#version 2.4
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	n_alt_count	n_ref_count
MYOM3	127294	broad.mit.edu	37	1	24397629	24397629	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:24397629T>C	ENST00000330966.7	-	25	3293	c.3131A>G	c.(3130-3132)aAc>aGc	p.N1044S	MYOM3_ENST00000329601.7_Missense_Mutation_p.N1043S|MYOM3_ENST00000374434.3_Missense_Mutation_p.N1043S|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1043										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GATCTCCTTGTTGTTGAAGAT	0.567											OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	44	---	---	---	---	0	0
LPPR5	0	broad.mit.edu	37	1	99380467	99380467	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:99380467C>T	ENST00000370188.3	-	5	1168	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	LPPR5_ENST00000263177.4_Missense_Mutation_p.V270M	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		270						integral to membrane	hydrolase activity										TTATTCACCACGCACACAACC	0.393													19	98	---	---	---	---	0	0
CD1C	911	broad.mit.edu	37	1	158262073	158262073	+	Silent	SNP	A	A	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:158262073A>T	ENST00000368170.3	+	3	807	c.528A>T	c.(526-528)acA>acT	p.T176T		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	176					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCACAGAAACAGTGTATAATC	0.478													7	281	---	---	---	---	0	0
LBH	81606	broad.mit.edu	37	2	30480447	30480447	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr2:30480447A>G	ENST00000395323.3	+	3	486	c.278A>G	c.(277-279)gAt>gGt	p.D93G	LBH_ENST00000401506.1_Missense_Mutation_p.D99G|LBH_ENST00000407930.2_Missense_Mutation_p.D76G|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000404397.1_Intron	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	93					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					GATGAGCAAGATAACTGCGAA	0.557													13	25	---	---	---	---	0	0
C6	729	broad.mit.edu	37	5	41160290	41160290	+	Silent	SNP	G	G	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr5:41160290G>T	ENST00000263413.3	-	11	1902	c.1638C>A	c.(1636-1638)ggC>ggA	p.G546G	C6_ENST00000337836.5_Silent_p.G546G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	546	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACCATAGGTGCCACTCTGAC	0.463													19	59	---	---	---	---	0	0
FRS3	10817	broad.mit.edu	37	6	41738928	41738928	+	Missense_Mutation	SNP	C	C	T	rs143790685		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr6:41738928C>T	ENST00000373018.3	-	7	1159	c.908G>A	c.(907-909)aGc>aAc	p.S303N	FRS3_ENST00000259748.2_Missense_Mutation_p.S303N	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	303					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCCTCTGGGCTCAGTCTCCA	0.652													8	23	---	---	---	---	0	0
BAI3	577	broad.mit.edu	37	6	69703688	69703688	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr6:69703688G>A	ENST00000370598.1	+	11	2584	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	588					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R588P(1)|p.R588Q(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGGGCAGCGAATGCTGGCA	0.418													33	171	---	---	---	---	0	0
MYB	4602	broad.mit.edu	37	6	135515025	135515025	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr6:135515025A>T	ENST00000341911.5	+	7	1011	c.812A>T	c.(811-813)aAt>aTt	p.N271I	MYB_ENST00000527615.1_Missense_Mutation_p.N271I|MYB_ENST00000420123.2_Missense_Mutation_p.N247I|MYB_ENST00000528774.1_Missense_Mutation_p.N271I|MYB_ENST00000534044.1_Missense_Mutation_p.N271I|MYB_ENST00000316528.8_Missense_Mutation_p.N271I|MYB_ENST00000367814.4_Missense_Mutation_p.N271I|MYB_ENST00000533624.1_Missense_Mutation_p.N271I|MYB_ENST00000525369.1_Missense_Mutation_p.N271I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.N271I|MYB_ENST00000442647.2_Missense_Mutation_p.N271I	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	271					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AATATAGTCAATGTCCCTCAG	0.413			T	NFIB	adenoid cystic carcinoma								24	61	---	---	---	---	0	0
ADAM18	8749	broad.mit.edu	37	8	39495171	39495171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr8:39495171G>A	ENST00000265707.5	+	9	821	c.776G>A	c.(775-777)tGg>tAg	p.W259*	ADAM18_ENST00000379866.1_Nonsense_Mutation_p.W235*|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	259	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTTTGGCATGGAAACGGGAC	0.358													18	65	---	---	---	---	0	0
DNHD1	144132	broad.mit.edu	37	11	6541310	6541310	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:6541310C>T	ENST00000254579.6	+	9	2327	c.1763C>T	c.(1762-1764)tCt>tTt	p.S588F	DNHD1_ENST00000354685.3_Missense_Mutation_p.S588F|DNHD1_ENST00000527990.2_Missense_Mutation_p.S588F	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	588					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCCTACAGTCTGTCAAGACC	0.483													13	36	---	---	---	---	0	0
OR5D16	390144	broad.mit.edu	37	11	55606971	55606971	+	Silent	SNP	T	T	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:55606971T>A	ENST00000378396.1	+	1	744	c.744T>A	c.(742-744)acT>acA	p.T248T		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCCACCTGACTGCCATCACCA	0.507													11	60	---	---	---	---	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105948438	105948438	+	Translation_Start_Site	SNP	A	A	C			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:105948438A>C	ENST00000278618.4	+	1	223	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	KBTBD3_ENST00000531837.1_5'UTR	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	1					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		CTTTCAGTGTATGGTTTTCCC	0.667													8	43	---	---	---	---	0	0
TMED10	10972	broad.mit.edu	37	14	75602590	75602590	+	Splice_Site	SNP	C	C	G			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr14:75602590C>G	ENST00000303575.4	-	4	463		c.e4-1		RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		CTTTTGCAATCTGGAAAAGAA	0.368													20	40	---	---	---	---	0	0
ATG2B	55102	broad.mit.edu	37	14	96829289	96829289	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr14:96829289T>C	ENST00000359933.4	-	1	918	c.25A>G	c.(25-27)Atc>Gtc	p.I9V		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	9										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTCTTCTTGATGGACTCCGAA	0.647													18	61	---	---	---	---	0	0
LASP1	3927	broad.mit.edu	37	17	37074891	37074891	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr17:37074891G>A	ENST00000318008.6	+	7	977	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	LASP1_ENST00000433206.2_Missense_Mutation_p.A160T|LASP1_ENST00000435347.3_Missense_Mutation_p.A216T	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	216	SH3.					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CTACAGCGCCGCCGACGAGGA	0.637			T	MLL	AML								26	69	---	---	---	---	0	0
INTS2	57508	broad.mit.edu	37	17	60003895	60003895	+	Silent	SNP	A	A	C			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr17:60003895A>C	ENST00000444766.3	-	2	210	c.135T>G	c.(133-135)ctT>ctG	p.L45L	INTS2_ENST00000251334.6_Silent_p.L37L	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	45					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AACAGGGCAGAAGAAGTCTTA	0.478													6	14	---	---	---	---	0	0
NCOA6	23054	broad.mit.edu	37	20	33324502	33324502	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr20:33324502G>A	ENST00000374796.2	-	13	8524	c.5954C>T	c.(5953-5955)gCc>gTc	p.A1985V	NCOA6_ENST00000359003.2_Missense_Mutation_p.A1985V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1985	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACCTGGTCTGGCAACAGAGGC	0.453													3	52	---	---	---	---	0	0
GGT7	2686	broad.mit.edu	37	20	33440316	33440316	+	Missense_Mutation	SNP	C	C	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr20:33440316C>A	ENST00000336431.5	-	11	1389	c.1345G>T	c.(1345-1347)Ggc>Tgc	p.G449C		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	449					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TTGATATGGCCCCGGAGGTAG	0.582													9	48	---	---	---	---	0	0
ITIH6	347365	broad.mit.edu	37	X	54783701	54783701	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chrX:54783701G>T	ENST00000218436.6	-	8	2835	c.2806C>A	c.(2806-2808)Ccc>Acc	p.P936T		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	936	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CTTCCAGGGGGCAGAGTGGGA	0.562													11	13	---	---	---	---	0	0
TIE1	7075	broad.mit.edu	37	1	43779588	43779588	+	Silent	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:43779588C>T	ENST00000372476.3	+	14	2437	c.2358C>T	c.(2356-2358)atC>atT	p.I786I	TIE1_ENST00000433781.2_Silent_p.I431I|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	786					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTGTGCATCCGCAGAAGCT	0.632													13	35	---	---	---	---	0	0
B4GALT2	8704	broad.mit.edu	37	1	44446882	44446882	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:44446882T>A	ENST00000356836.6	+	2	840	c.50T>A	c.(49-51)cTc>cAc	p.L17H	B4GALT2_ENST00000309519.7_Missense_Mutation_p.L46H|B4GALT2_ENST00000434555.2_5'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.L17H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	17					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AAGGCTGTGCTCCTTCTCTGC	0.682													15	39	---	---	---	---	0	0
GATAD2B	57459	broad.mit.edu	37	1	153790536	153790536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:153790536G>A	ENST00000368655.4	-	5	952	c.709C>T	c.(709-711)Caa>Taa	p.Q237*		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	237						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCAAATTTTGAGGTTCAACC	0.493													45	149	---	---	---	---	0	0
HDGF	3068	broad.mit.edu	37	1	156714094	156714094	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:156714094T>C	ENST00000357325.5	-	4	664	c.350A>G	c.(349-351)gAa>gGa	p.E117G	HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Missense_Mutation_p.E85G|HDGF_ENST00000368206.5_Missense_Mutation_p.E133G|HDGF_ENST00000368209.5_Missense_Mutation_p.E110G|HDGF_ENST00000537739.1_Missense_Mutation_p.E117G	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	117	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTCTGCAGCTTCGGGCTCTGG	0.592													25	372	---	---	---	---	0	0
BRINP3	339479	broad.mit.edu	37	1	190067681	190067681	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr1:190067681C>T	ENST00000367462.3	-	8	1999	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	BRINP3_ENST00000534846.1_Missense_Mutation_p.E488K	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	590																	AAGCTGTTTTCATTCACAGGC	0.458													41	130	---	---	---	---	0	0
MED12L	116931	broad.mit.edu	37	3	151075043	151075043	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr3:151075043A>C	ENST00000474524.1	+	18	2637	c.2599A>C	c.(2599-2601)Aaa>Caa	p.K867Q	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.K727Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	867					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTGCTCCTAAAATCCTCCAG	0.423													14	71	---	---	---	---	0	0
CEP135	9662	broad.mit.edu	37	4	56886920	56886920	+	Silent	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr4:56886920G>A	ENST00000257287.4	+	24	3418	c.3294G>A	c.(3292-3294)agG>agA	p.R1098R		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1098					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTCTGAAAAGGCAGATCTCAA	0.323													14	123	---	---	---	---	0	0
KIAA1430	57587	broad.mit.edu	37	4	186111652	186111652	+	Silent	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr4:186111652C>T	ENST00000458385.2	-	2	818	c.699G>A	c.(697-699)caG>caA	p.Q233Q	KIAA1430_ENST00000514798.1_Silent_p.Q233Q|KIAA1430_ENST00000296775.6_Silent_p.Q233Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	233	Ser-rich.									endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TACTTGAAGGCTGTGTTTCTG	0.428													4	39	---	---	---	---	0	0
TBXAS1	6916	broad.mit.edu	37	7	139572059	139572059	+	Missense_Mutation	SNP	C	C	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr7:139572059C>A	ENST00000263552.6	+	6	656	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	TBXAS1_ENST00000336425.5_Missense_Mutation_p.L39M|TBXAS1_ENST00000455353.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L40M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000425687.1_5'UTR	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	39					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					ATTCTCAAGACTGGAGAAGTT	0.443													39	161	---	---	---	---	0	0
GTPBP4	23560	broad.mit.edu	37	10	1044996	1044996	+	Silent	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr10:1044996G>A	ENST00000360803.4	+	6	697	c.615G>A	c.(613-615)ctG>ctA	p.L205L	GTPBP4_ENST00000538293.1_Silent_p.L89L|GTPBP4_ENST00000545048.1_Silent_p.L158L|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	205					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CCAAGTCTCTGTTTGTTGGGC	0.413													11	26	---	---	---	---	0	0
ANK3	288	broad.mit.edu	37	10	61830119	61830119	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr10:61830119C>T	ENST00000280772.2	-	37	10711	c.10520G>A	c.(10519-10521)gGc>gAc	p.G3507D	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.G3507V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGATGTCTGCCTTCCAGTGT	0.428													21	97	---	---	---	---	0	0
CCDC87	55231	broad.mit.edu	37	11	66359398	66359398	+	Missense_Mutation	SNP	C	C	G	rs142496256		TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr11:66359398C>G	ENST00000333861.3	-	1	1156	c.1089G>C	c.(1087-1089)aaG>aaC	p.K363N		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	363										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCAACTTCATCTTCTTTATCA	0.597													7	33	---	---	---	---	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717134	13717134	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:13717134G>A	ENST00000609686.1	-	13	3247	c.3038C>T	c.(3037-3039)aCc>aTc	p.T1013I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTGGACTGGGTGGTGAAGGG	0.577													14	29	---	---	---	---	0	0
ERBB3	2065	broad.mit.edu	37	12	56482346	56482346	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr12:56482346A>T	ENST00000267101.3	+	8	1334	c.894A>T	c.(892-894)caA>caT	p.Q298H	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q239H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	298					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGGTGGATCAAACATCCTGTG	0.507													19	156	---	---	---	---	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43696671	43696671	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr15:43696671A>G	ENST00000564079.1	+	17	2149	c.1909A>G	c.(1909-1911)Atc>Gtc	p.I637V	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.I638V	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	638					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GAATCATCAGATCAACTCAGA	0.478													3	51	---	---	---	---	0	0
KRT9	3857	broad.mit.edu	37	17	39724878	39724878	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr17:39724878T>C	ENST00000246662.4	-	5	1117	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	KRT9_ENST00000588431.1_Missense_Mutation_p.Q118R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	351	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ATGCTCGATCTGGGTTATCTG	0.557													62	182	---	---	---	---	0	0
ZNF285	26974	broad.mit.edu	37	19	44891645	44891645	+	Silent	SNP	G	G	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chr19:44891645G>A	ENST00000330997.4	-	4	826	c.762C>T	c.(760-762)caC>caT	p.H254H	ZNF285_ENST00000591679.1_Silent_p.H261H|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.H254H	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTTCTCCTAGGTGAGTGCTGT	0.433													9	114	---	---	---	---	0	0
ZNF182	7569	broad.mit.edu	37	X	47836948	47836948	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chrX:47836948C>T	ENST00000396965.1	-	7	888	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ZNF182_ENST00000305127.6_Missense_Mutation_p.E180K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E161K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TATTTATTTTCTGCAGAACTT	0.333													15	15	---	---	---	---	0	0
IGSF1	3547	broad.mit.edu	37	X	130419246	130419246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2A-A8VO-01A-11D-A377-08	TCGA-2A-A8VO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea3d3e0f-ff85-4f89-99b5-375033ec614a	10813632-d72a-449d-a4a1-0d0811d48ec5	g.chrX:130419246C>A	ENST00000370904.1	-	11	1457	c.547G>T	c.(547-549)Gag>Tag	p.E183*	IGSF1_ENST00000370901.4_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E183*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	192	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCTTCATCCTCAGGTGTCAGG	0.517													28	36	---	---	---	---	0	0
GSTM3	2947	broad.mit.edu	37	1	110280790	110280790	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr1:110280790T>A	ENST00000540225.1	-	6	605	c.295A>T	c.(295-297)Att>Ttt	p.I99F	GSTM3_ENST00000361066.2_Missense_Mutation_p.I99F|GSTM3_ENST00000256594.3_Missense_Mutation_p.I99F|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	99	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TCCACTCGAATCTTTTCTTCT	0.473													3	38	---	---	---	---	0	0
LY9	4063	broad.mit.edu	37	1	160793350	160793350	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr1:160793350A>T	ENST00000368037.5	+	8	1666	c.1552A>T	c.(1552-1554)Acc>Tcc	p.T518S	LY9_ENST00000341032.4_Intron|LY9_ENST00000368041.2_Missense_Mutation_p.T402S|LY9_ENST00000263285.6_Missense_Mutation_p.T532S|LY9_ENST00000392203.4_Missense_Mutation_p.T442S|LY9_ENST00000368040.1_Missense_Mutation_p.T170S	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCTACACCCACCTCAGACAG	0.557													4	29	---	---	---	---	0	0
USH2A	7399	broad.mit.edu	37	1	215963501	215963501	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr1:215963501G>T	ENST00000366943.2	-	51	10468	c.10082C>A	c.(10081-10083)aCt>aAt	p.T3361N	USH2A_ENST00000307340.3_Missense_Mutation_p.T3361N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3361					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATAAGTTCAGTCTCACAGCA	0.383										HNSCC(13;0.011)			5	52	---	---	---	---	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043280	71043280	+	Missense_Mutation	SNP	G	G	T	rs148473537		TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:71043280G>T	ENST00000272367.2	-	4	1309	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	CLEC4F_ENST00000426626.1_Missense_Mutation_p.D411E	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	411					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GCAGATTGCTGTCTAACATCT	0.468													3	40	---	---	---	---	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530341	80530341	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:80530341G>A	ENST00000295057.3	-	2	1260	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R202C|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	202						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAAGAGTTGCGCGCCAGACTC	0.587										HNSCC(69;0.2)			10	59	---	---	---	---	0	0
ALPP	250	broad.mit.edu	37	2	233244506	233244506	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:233244506G>A	ENST00000392027.2	+	5	786	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	173						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACCACACGAGTGCAGCACGC	0.657													13	25	---	---	---	---	0	0
HLTF	6596	broad.mit.edu	37	3	148765942	148765942	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr3:148765942T>C	ENST00000310053.5	-	17	1958	c.1765A>G	c.(1765-1767)Atc>Gtc	p.I589V	HLTF_ENST00000392912.2_Missense_Mutation_p.I589V|HLTF_ENST00000465259.1_Missense_Mutation_p.I588V|HLTF_ENST00000494055.1_Missense_Mutation_p.I589V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	589	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAATTCTGGATTGGAGTACCT	0.348													16	25	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126372551	126372551	+	Silent	SNP	A	A	G			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr4:126372551A>G	ENST00000394329.3	+	9	10393	c.10380A>G	c.(10378-10380)ggA>ggG	p.G3460G	FAT4_ENST00000335110.5_Silent_p.G1758G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3460	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGCAGACAGGACAGATCACCG	0.473													18	59	---	---	---	---	0	0
C9	735	broad.mit.edu	37	5	39331784	39331784	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr5:39331784G>C	ENST00000263408.4	-	5	704	c.609C>G	c.(607-609)atC>atG	p.I203M	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	203	MACPF.		I -> V (in dbSNP:rs13361416).		complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTACTTCATAGATCAAAGAAG	0.398													20	24	---	---	---	---	0	0
NUDT12	83594	broad.mit.edu	37	5	102890441	102890441	+	Splice_Site	SNP	C	C	G			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr5:102890441C>G	ENST00000230792.2	-	5	1174	c.1078G>C	c.(1078-1080)Gga>Cga	p.G360R	NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Splice_Site_p.G342R	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	360	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AATGGCTTACCAGGCTCAATA	0.313													3	28	---	---	---	---	0	0
COQ3	51805	broad.mit.edu	37	6	99823923	99823923	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr6:99823923T>C	ENST00000254759.3	-	5	646	c.622A>G	c.(622-624)Att>Gtt	p.I208V	COQ3_ENST00000369242.1_Intron|COQ3_ENST00000369240.1_Intron	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	208					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TCTTCCACAATCTCTTCCAGG	0.403													4	75	---	---	---	---	0	0
TAB2	23118	broad.mit.edu	37	6	149699821	149699821	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr6:149699821C>T	ENST00000367456.1	+	4	1347	c.770C>T	c.(769-771)aCt>aTt	p.T257I	TAB2_ENST00000286332.5_Missense_Mutation_p.T257I|TAB2_ENST00000392282.1_Missense_Mutation_p.T257I|TAB2_ENST00000538427.1_Missense_Mutation_p.T257I|TAB2_ENST00000536230.1_Missense_Mutation_p.T225I			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	257					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GGTCCCTGGACTACTTGTCCT	0.488													28	42	---	---	---	---	0	0
MACC1	346389	broad.mit.edu	37	7	20180754	20180754	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr7:20180754G>C	ENST00000400331.5	-	7	2682	c.2374C>G	c.(2374-2376)Ctg>Gtg	p.L792V	MACC1_ENST00000332878.4_Missense_Mutation_p.L792V|MACC1_ENST00000589011.1_Missense_Mutation_p.L792V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	792					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CAGGTATACAGAAAATCATAG	0.358													5	30	---	---	---	---	0	0
RAD54B	25788	broad.mit.edu	37	8	95416434	95416434	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr8:95416434T>C	ENST00000336148.5	-	6	939	c.815A>G	c.(814-816)cAc>cGc	p.H272R		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACCCACTGGTGATTCTTATC	0.348								Direct reversal of damage;Homologous recombination					13	57	---	---	---	---	0	0
TYRP1	7306	broad.mit.edu	37	9	12695765	12695765	+	Translation_Start_Site	SNP	T	T	G			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:12695765T>G	ENST00000381137.2	+	0	814				TYRP1_ENST00000388918.5_Missense_Mutation_p.D212E|TYRP1_ENST00000381136.2_De_novo_Start_OutOfFrame			P17643	TYRP1_HUMAN	tyrosinase-related protein 1						melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTGAAGTGGATTTCTCTCATG	0.428									Oculocutaneous Albinism				19	27	---	---	---	---	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627521	43627521	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:43627521G>A	ENST00000332857.6	-	4	1194	c.1166C>T	c.(1165-1167)tCg>tTg	p.S389L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CAGCTGTTTCGAGTTCTCTCC	0.483													34	192	---	---	---	---	0	0
GOLM1	51280	broad.mit.edu	37	9	88651374	88651374	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:88651374G>T	ENST00000388712.3	-	7	814	c.646C>A	c.(646-648)Cca>Aca	p.P216T	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Missense_Mutation_p.P216T	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	216						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TCTGTGTGTGGCAGGCCTGCT	0.582													11	32	---	---	---	---	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32101744	32101744	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr10:32101744T>A	ENST00000375250.5	-	13	1993	c.1752A>T	c.(1750-1752)aaA>aaT	p.K584N	ARHGAP12_ENST00000344936.2_Missense_Mutation_p.K614N|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K609N|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K562N	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	614					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TGCTAGATACTTTAAAGGCTT	0.333													10	35	---	---	---	---	0	0
C10orf71	118461	broad.mit.edu	37	10	50531758	50531758	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr10:50531758G>T	ENST00000374144.3	+	3	1456	c.1168G>T	c.(1168-1170)Ggg>Tgg	p.G390W	C10orf71_ENST00000323868.4_Missense_Mutation_p.G390W			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	390								p.G390R(1)		endometrium(1)	1						TGGCAAAAAAGGGAAAGAAAG	0.473													10	33	---	---	---	---	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98386517	98386517	+	Silent	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr10:98386517G>A	ENST00000339364.5	-	10	1736	c.1617C>T	c.(1615-1617)acC>acT	p.T539T	PIK3AP1_ENST00000371110.2_Silent_p.T361T|PIK3AP1_ENST00000371109.3_Silent_p.T138T	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	539						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CAGGAGCAGTGGTCTCTGGTC	0.532													3	30	---	---	---	---	0	0
E2F8	79733	broad.mit.edu	37	11	19252363	19252363	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:19252363T>C	ENST00000527884.1	-	8	1317	c.1085A>G	c.(1084-1086)cAt>cGt	p.H362R	E2F8_ENST00000250024.4_Missense_Mutation_p.H362R|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	362					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGAGTAAAATGAATGACTGG	0.418													9	27	---	---	---	---	0	0
OR4C13	283092	broad.mit.edu	37	11	49974310	49974310	+	Silent	SNP	A	A	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:49974310A>C	ENST00000555099.1	+	1	368	c.336A>C	c.(334-336)ctA>ctC	p.L112L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AGGTCATCCTACTTACTGTAA	0.428													4	58	---	---	---	---	0	0
DAK	26007	broad.mit.edu	37	11	61110228	61110228	+	Splice_Site	SNP	C	C	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:61110228C>A	ENST00000394900.3	+	10	1006	c.777C>A	c.(775-777)ggC>ggA	p.G259G		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	259	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TACCCGCAGGCTCCTCAGTTG	0.627													14	23	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62284330	62284330	+	Silent	SNP	C	C	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:62284330C>A	ENST00000378024.4	-	5	17833	c.17559G>T	c.(17557-17559)gtG>gtT	p.V5853V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5853					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGCCAGGGACACCCCACTCC	0.522													35	69	---	---	---	---	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675192	54675192	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr12:54675192T>C	ENST00000546500.1	+	2	653	c.38T>C	c.(37-39)cTg>cCg	p.L13P	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.L13P|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.L13P|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.L13P			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	13	Globular A domain.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CCCGAACAGCTGAGGAAGCTC	0.483													18	26	---	---	---	---	0	0
ANXA2	302	broad.mit.edu	37	15	60641330	60641330	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr15:60641330T>A	ENST00000396024.3	-	13	1063	c.904A>T	c.(904-906)Aaa>Taa	p.K302*	ANXA2_ENST00000421017.2_Nonsense_Mutation_p.K302*|ANXA2_ENST00000332680.4_Nonsense_Mutation_p.K320*|ANXA2_ENST00000451270.2_Nonsense_Mutation_p.K302*	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	302					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	GACCTAATTTTCAACATGTCC	0.483													3	30	---	---	---	---	0	0
CHD9	80205	broad.mit.edu	37	16	53190610	53190610	+	Silent	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr16:53190610T>A	ENST00000566029.1	+	2	818	c.609T>A	c.(607-609)tcT>tcA	p.S203S	CHD9_ENST00000564845.1_Silent_p.S203S|CHD9_ENST00000447540.1_Silent_p.S203S|CHD9_ENST00000398510.3_Silent_p.S203S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	203					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGAATGTTTCTGGTCCACATA	0.373													26	55	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7579592	7579592	+	Splice_Site	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr17:7579592T>C	ENST00000420246.2	-	4	229		c.e4-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAGGGGGACTGTAGATGGGT	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			41	38	---	---	---	---	0	0
OR10H2	26538	broad.mit.edu	37	19	15839766	15839766	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:15839766A>G	ENST00000305899.3	+	1	933	c.913A>G	c.(913-915)Acc>Gcc	p.T305A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGAAGAGGACCTTCCTCAG	0.527													3	25	---	---	---	---	0	0
COX7A1	1346	broad.mit.edu	37	19	36641901	36641901	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:36641901A>T	ENST00000292907.3	-	4	684	c.223T>A	c.(223-225)Tcc>Acc	p.S75T	COX7A1_ENST00000437291.2_Missense_Mutation_p.S19T	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	75					generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGGGGAAGGAGGCCCAGCCA	0.532													4	59	---	---	---	---	0	0
RYR1	6261	broad.mit.edu	37	19	38933032	38933032	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:38933032A>T	ENST00000355481.4	+	3	340	c.209A>T	c.(208-210)cAg>cTg	p.Q70L	RYR1_ENST00000359596.3_Missense_Mutation_p.Q70L|RYR1_ENST00000360985.3_Missense_Mutation_p.Q70L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	70					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCCTGGAGCAGTCCCTGTCT	0.652													15	37	---	---	---	---	0	0
SLC1A5	6510	broad.mit.edu	37	19	47278981	47278981	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:47278981T>A	ENST00000542575.2	-	8	2040	c.1412A>T	c.(1411-1413)aAt>aTt	p.N471I	SLC1A5_ENST00000594991.1_Missense_Mutation_p.N295I|SLC1A5_ENST00000412532.2_Missense_Mutation_p.N243I|SLC1A5_ENST00000434726.2_Missense_Mutation_p.N269I|FKRP_ENST00000600646.1_Intron	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	471					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	ACCTTCTACATTGAGGACGGT	0.552													10	29	---	---	---	---	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248542	49248542	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:49248542T>A	ENST00000332955.2	-	3	786	c.239A>T	c.(238-240)gAg>gTg	p.E80V		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	80					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CAGTGTGGCCTCATCTGTCAG	0.498													3	24	---	---	---	---	0	0
DSTN	11034	broad.mit.edu	37	20	17581394	17581394	+	Silent	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr20:17581394G>T	ENST00000246069.7	+	2	361	c.15G>T	c.(13-15)gtG>gtT	p.V5V	DSTN_ENST00000474024.1_5'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)		ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						CCTCAGGAGTGCAAGTAGCTG	0.323													3	23	---	---	---	---	0	0
CD40	958	broad.mit.edu	37	20	44756996	44756996	+	Splice_Site	SNP	A	A	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr20:44756996A>T	ENST00000372285.3	+	8	746	c.674A>T	c.(673-675)aAg>aTg	p.K225M	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Splice_Site_p.*204Y	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	225					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CCAACCAATAAGGTAGGTCAC	0.468									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	12	---	---	---	---	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762490	131762490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chrX:131762490G>A	ENST00000370836.2	-	4	1994	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	HS6ST2_ENST00000521489.1_Nonsense_Mutation_p.Q567*|HS6ST2_ENST00000406696.3_Nonsense_Mutation_p.Q253*|HS6ST2_ENST00000370833.2_Nonsense_Mutation_p.Q421*	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	527						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AAATGGGTCTGAAGGAGCCTT	0.498													5	13	---	---	---	---	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042487	59042487	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:59042487G>T	ENST00000371225.2	-	1	679	c.342C>A	c.(340-342)ttC>ttA	p.F114L		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	114	Thyroglobulin type-1.				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					GGCGCGCCTTGAAGCGGCCCT	0.701													10	4	---	---	---	---	0	0
OR2G2	81470	broad.mit.edu	37	1	247752563	247752563	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:247752563A>T	ENST00000320065.1	+	1	902	c.902A>T	c.(901-903)aAa>aTa	p.K301I	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGGAGGTGAAAGGGGCATTA	0.368													6	101	---	---	---	---	0	0
CCDC108	255101	broad.mit.edu	37	2	219892592	219892592	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr2:219892592G>A	ENST00000341552.5	-	13	2074	c.1991C>T	c.(1990-1992)cCa>cTa	p.P664L	CCDC108_ENST00000410037.1_Missense_Mutation_p.P599L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P664L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P664L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P653L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	664						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCAGGCCCTGGGCAGGCACC	0.617													16	24	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100682353	100682353	+	Silent	SNP	C	C	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr7:100682353C>A	ENST00000306151.4	+	3	7720	c.7656C>A	c.(7654-7656)atC>atA	p.I2552I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2552	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACTGAAATCAGTTCATCTG	0.502													74	197	---	---	---	---	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110452985	110452985	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr8:110452985A>C	ENST00000378402.5	+	33	4107	c.4003A>C	c.(4003-4005)Atg>Ctg	p.M1335L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1335	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGACCAGCATGTTTCCACA	0.368										HNSCC(38;0.096)			14	111	---	---	---	---	0	0
SLC17A6	57084	broad.mit.edu	37	11	22382484	22382484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:22382484G>A	ENST00000263160.3	+	5	1052	c.615G>A	c.(613-615)tgG>tgA	p.W205*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	205					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGAGCAAATGGGCCCCACCTC	0.478													3	33	---	---	---	---	0	0
MYO7A	4647	broad.mit.edu	37	11	76873971	76873971	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:76873971A>T	ENST00000409709.3	+	14	1899	c.1627A>T	c.(1627-1629)Aac>Tac	p.N543Y	MYO7A_ENST00000458637.2_Missense_Mutation_p.N543Y|MYO7A_ENST00000409893.1_Missense_Mutation_p.N543Y|MYO7A_ENST00000409619.2_Missense_Mutation_p.N532Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	543	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCCCCCAAGAACAACCATGA	0.572													8	153	---	---	---	---	0	0
OR8G5	219865	broad.mit.edu	37	11	124135393	124135393	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:124135393G>C	ENST00000524943.2	+	1	671	c.671G>C	c.(670-672)tGt>tCt	p.C224S	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1			olfactory receptor, family 8, subfamily G, member 5														Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		AAGCTCTCCTGTTCTAGTACT	0.368													18	120	---	---	---	---	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113223466	113223466	+	Splice_Site	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr13:113223466G>A	ENST00000261965.3	-	2	370	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	TUBGCP3_ENST00000375669.3_Splice_Site_p.L62F	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	62					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AAATACGTACGCTCTTTCTTG	0.413													9	31	---	---	---	---	0	0
CEP152	22995	broad.mit.edu	37	15	49059645	49059645	+	Nonsense_Mutation	SNP	A	A	C			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr15:49059645A>C	ENST00000380950.2	-	16	2221	c.2034T>G	c.(2032-2034)taT>taG	p.Y678*	CEP152_ENST00000325747.5_Nonsense_Mutation_p.Y585*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Y678*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	678					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GGTGCTGCTGATAAGTCCTTT	0.458													21	33	---	---	---	---	0	0
ZNF568	374900	broad.mit.edu	37	19	37440962	37440962	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr19:37440962G>C	ENST00000415168.1	+	5	1091	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E303Q|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATACTGGGGAGAAACCTTA	0.378													4	40	---	---	---	---	0	0
NBPF8	728841	broad.mit.edu	37	1	144220806	144220806	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:144220806G>T	ENST00000369373.5	+	2	73	c.73G>T	c.(73-75)Gat>Tat	p.D25Y						neuroblastoma breakpoint family, member 8																		GGAGCTGCTGGATGAGAAAGA	0.483													20	170	---	---	---	---	0	0
UCK2	7371	broad.mit.edu	37	1	165872475	165872475	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:165872475A>C	ENST00000367879.4	+	5	859	c.556A>C	c.(556-558)Att>Ctt	p.I186L	UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.I36L|UCK2_ENST00000470820.1_Missense_Mutation_p.I36L	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	186					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATCTCAGTACATTACGTTCGT	0.388													6	172	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	185880806	185880806	+	Splice_Site	SNP	G	G	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:185880806G>A	ENST00000271588.4	+	6	1023	c.794G>A	c.(793-795)gGg>gAg	p.G265E	HMCN1_ENST00000367492.2_Splice_Site_p.G265E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	265					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCTTTCAGGGAAGCTGATA	0.373													42	64	---	---	---	---	0	0
MIA3	375056	broad.mit.edu	37	1	222833531	222833531	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr1:222833531A>G	ENST00000344922.5	+	24	5013	c.4988A>G	c.(4987-4989)cAg>cGg	p.Q1663R	MIA3_ENST00000344441.6_Missense_Mutation_p.Q1663R|MIA3_ENST00000344507.1_Intron|RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Missense_Mutation_p.Q541R	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1663	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCTCTGAGCCAGAATGGCTCT	0.468													25	25	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	141945999	141945999	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr2:141945999G>C	ENST00000389484.3	-	7	1975	c.1004C>G	c.(1003-1005)cCa>cGa	p.P335R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	335					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCTGCTATTGGATCTACTGC	0.368										TSP Lung(27;0.18)			17	47	---	---	---	---	0	0
EPHB1	2047	broad.mit.edu	37	3	134670794	134670794	+	Silent	SNP	C	C	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr3:134670794C>T	ENST00000398015.3	+	3	1075	c.705C>T	c.(703-705)ccC>ccT	p.P235P	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	235	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGACGTGCCCATCAAACTCT	0.557													65	79	---	---	---	---	0	0
PDK4	5166	broad.mit.edu	37	7	95222106	95222106	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr7:95222106G>C	ENST00000005178.5	-	4	692	c.495C>G	c.(493-495)aaC>aaG	p.N165K		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	165	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TAGAAATACGGTTCATGTAAA	0.373													4	64	---	---	---	---	0	0
XKR9	389668	broad.mit.edu	37	8	71646088	71646088	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr8:71646088T>C	ENST00000408926.3	+	5	1085	c.551T>C	c.(550-552)gTa>gCa	p.V184A	XKR9_ENST00000520030.1_Missense_Mutation_p.V184A|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	184						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GATTATCAAGTAGCTTTAAGA	0.313													16	67	---	---	---	---	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24880205	24880205	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr10:24880205G>T	ENST00000396432.2	-	24	4585	c.4099C>A	c.(4099-4101)Cat>Aat	p.H1367N	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H1154N	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1366					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGAGTAAATGATCTATGTTT	0.448													28	55	---	---	---	---	0	0
LRRC43	254050	broad.mit.edu	37	12	122685876	122685876	+	Splice_Site	SNP	G	G	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr12:122685876G>C	ENST00000339777.4	+	11	1871	c.1843G>C	c.(1843-1845)Gaa>Caa	p.E615Q	LRRC43_ENST00000425921.1_Splice_Site_p.E430Q|LRRC43_ENST00000537733.1_3'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	615										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGCCAAAAAAGGTGAGTGCCG	0.522													24	39	---	---	---	---	0	0
VWA8	23078	broad.mit.edu	37	13	42273390	42273390	+	Silent	SNP	A	A	C			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr13:42273390A>C	ENST00000379310.3	-	29	3449	c.3381T>G	c.(3379-3381)acT>acG	p.T1127T		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CTACATAGAGAGTATTTTGCT	0.378													29	35	---	---	---	---	0	0
IRX3	79191	broad.mit.edu	37	16	54319405	54319405	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr16:54319405G>A	ENST00000329734.3	-	2	1100	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	130					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						TTCTTGGGACGGGACGGGTCC	0.677													3	28	---	---	---	---	0	0
ZNF846	162993	broad.mit.edu	37	19	9868382	9868382	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr19:9868382T>A	ENST00000397902.2	-	6	1784	c.1371A>T	c.(1369-1371)aaA>aaT	p.K457N	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						GAGCAAATGCTTTACCGCATT	0.438													6	87	---	---	---	---	0	0
EPHA10	284656	broad.mit.edu	37	1	38192843	38192843	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr1:38192843A>G	ENST00000373048.4	-	8	1702	c.1703T>C	c.(1702-1704)gTc>gCc	p.V568A	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.V568A|EPHA10_ENST00000540011.1_Missense_Mutation_p.V63A|EPHA10_ENST00000330210.7_Missense_Mutation_p.V63A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	568						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTACGGTGACGACAATGGC	0.642													3	23	---	---	---	---	0	0
FAM151A	338094	broad.mit.edu	37	1	55075174	55075174	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr1:55075174A>G	ENST00000302250.2	-	8	1685	c.1525T>C	c.(1525-1527)Tcc>Ccc	p.S509P	FAM151A_ENST00000371304.2_Missense_Mutation_p.S322P|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	509						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ATCTGGAAGGACACAGGTTGC	0.632													21	103	---	---	---	---	0	0
CCT4	10575	broad.mit.edu	37	2	62099698	62099698	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:62099698T>C	ENST00000394440.3	-	11	1447	c.1151A>G	c.(1150-1152)aAa>aGa	p.K384R	CCT4_ENST00000544079.1_Missense_Mutation_p.K354R|CCT4_ENST00000538252.1_Missense_Mutation_p.K328R|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544185.1_Missense_Mutation_p.K234R|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	384					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TGTAACTGTTTTTCCAGGGCT	0.448													14	42	---	---	---	---	0	0
IGKV2-30	0	broad.mit.edu	37	2	89544386	89544386	+	RNA	SNP	C	C	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:89544386C>G	ENST00000468494.1	-	0	267																											ACCCCAGAGTCCCGGTTAGAA	0.498													41	156	---	---	---	---	0	0
COL6A3	1293	broad.mit.edu	37	2	238283426	238283426	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:238283426C>T	ENST00000295550.4	-	8	3760	c.3308G>A	c.(3307-3309)gGg>gAg	p.G1103E	COL6A3_ENST00000347401.3_Missense_Mutation_p.G902E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G496E|COL6A3_ENST00000392004.3_Missense_Mutation_p.G897E|COL6A3_ENST00000392003.2_Missense_Mutation_p.G696E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G897E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G903E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G897E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1103	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGGGTCGGCCCTCCCAGCAG	0.617													15	37	---	---	---	---	0	0
CNTN6	27255	broad.mit.edu	37	3	1367541	1367541	+	Missense_Mutation	SNP	C	C	T	rs150393896	by1000genomes	TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr3:1367541C>T	ENST00000446702.2	+	9	1616	c.989C>T	c.(988-990)tCt>tTt	p.S330F	CNTN6_ENST00000539053.1_Missense_Mutation_p.S258F|CNTN6_ENST00000350110.2_Missense_Mutation_p.S330F			Q9UQ52	CNTN6_HUMAN	contactin 6	330	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACACACCTCTCTATCTATGAC	0.418													12	62	---	---	---	---	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055452	9055452	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr3:9055452C>T	ENST00000383836.3	-	16	2315	c.1888G>A	c.(1888-1890)Gtc>Atc	p.V630I	SRGAP3_ENST00000360413.3_Missense_Mutation_p.V606I	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	630	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TATCTCATGACCACAATGACC	0.557			T	RAF1	pilocytic astrocytoma								8	42	---	---	---	---	0	0
DNAJC13	23317	broad.mit.edu	37	3	132196704	132196704	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr3:132196704T>A	ENST00000260818.6	+	23	2765	c.2517T>A	c.(2515-2517)gaT>gaA	p.D839E		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	839							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGGAGGAAGATGAGAATGAAG	0.348													17	104	---	---	---	---	0	0
ATP8A1	10396	broad.mit.edu	37	4	42576684	42576684	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr4:42576684C>T	ENST00000381668.5	-	14	1478	c.1247G>A	c.(1246-1248)tGc>tAc	p.C416Y	ATP8A1_ENST00000264449.10_Missense_Mutation_p.C416Y	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	416					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CATTACATTGCATGTCAGAGT	0.308													16	81	---	---	---	---	0	0
NAA15	80155	broad.mit.edu	37	4	140297585	140297585	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr4:140297585A>G	ENST00000296543.5	+	16	2337	c.2014A>G	c.(2014-2016)Ata>Gta	p.I672V	NAA15_ENST00000398947.1_Missense_Mutation_p.I672V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	672					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAGAACAAGATAGAGACTCA	0.333													12	45	---	---	---	---	0	0
PCDHA1	0	broad.mit.edu	37	5	140168038	140168038	+	Silent	SNP	G	G	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr5:140168038G>T	ENST00000504120.2	+	1	2163	c.2163G>T	c.(2161-2163)ctG>ctT	p.L721L	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.L721L	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGCGCTGCGGTGCTCAG	0.657													4	49	---	---	---	---	0	0
RANBP9	10048	broad.mit.edu	37	6	13625976	13625976	+	Silent	SNP	T	T	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:13625976T>C	ENST00000011619.3	-	13	2026	c.1968A>G	c.(1966-1968)gcA>gcG	p.A656A	RANBP9_ENST00000539980.1_Silent_p.A427A|NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	656	Interaction with FMR1.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GATCTGAATATGCTAGTAGAC	0.388													26	68	---	---	---	---	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045770	26045770	+	Silent	SNP	G	G	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:26045770G>A	ENST00000540144.1	+	1	132	c.132G>A	c.(130-132)ccG>ccA	p.P44P		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	44					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCTACCGCCCGGGCACCGTGG	0.647													6	68	---	---	---	---	0	0
CHRM2	1129	broad.mit.edu	37	7	136699850	136699850	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr7:136699850T>C	ENST00000445907.2	+	3	766	c.238T>C	c.(238-240)Tac>Cac	p.Y80H	hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.Y80H|CHRM2_ENST00000453373.1_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.Y80H|CHRM2_ENST00000402486.3_Missense_Mutation_p.Y80H|CHRM2_ENST00000397608.3_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	80					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CATGAACTTGTACACCCTCTA	0.468													22	90	---	---	---	---	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134472109	134472109	+	Silent	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr8:134472109C>T	ENST00000319914.5	-	9	1948	c.921G>A	c.(919-921)gcG>gcA	p.A307A	ST3GAL1_ENST00000521180.1_Silent_p.A307A|ST3GAL1_ENST00000522652.1_Silent_p.A307A|ST3GAL1_ENST00000399640.2_Silent_p.A307A			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	307					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAAAAGCCCCCGCGGATGGGT	0.552													4	167	---	---	---	---	0	0
PDE6C	5146	broad.mit.edu	37	10	95399905	95399905	+	Silent	SNP	T	T	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr10:95399905T>C	ENST00000371447.3	+	12	1699	c.1561T>C	c.(1561-1563)Ttg>Ctg	p.L521L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	521					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGAGCACGGATTGATTAAATG	0.413													17	47	---	---	---	---	0	0
TACC2	10579	broad.mit.edu	37	10	123844843	123844843	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr10:123844843C>T	ENST00000369005.1	+	4	3168	c.2828C>T	c.(2827-2829)gCa>gTa	p.A943V	TACC2_ENST00000453444.2_Missense_Mutation_p.A943V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A943V|TACC2_ENST00000515273.1_Missense_Mutation_p.A943V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A943V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	943						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGTTGCCTGCACTAGGGGAG	0.527													22	66	---	---	---	---	0	0
USP35	57558	broad.mit.edu	37	11	77917055	77917055	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr11:77917055C>T	ENST00000441408.2	+	5	684	c.119C>T	c.(118-120)tCc>tTc	p.S40F	USP35_ENST00000530267.1_Silent_p.I23I|USP35_ENST00000526425.1_Silent_p.I186I|USP35_ENST00000529308.1_Silent_p.I455I|USP35_ENST00000530535.1_Intron			Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	0					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCAACAGCATCCTTCAGGCCT	0.547													5	298	---	---	---	---	0	0
WNK1	65125	broad.mit.edu	37	12	994555	994555	+	Missense_Mutation	SNP	C	C	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr12:994555C>G	ENST00000537687.1	+	19	6008	c.5365C>G	c.(5365-5367)Cta>Gta	p.L1789V	WNK1_ENST00000315939.6_Missense_Mutation_p.L1529V|WNK1_ENST00000530271.2_Missense_Mutation_p.L2027V|WNK1_ENST00000535572.1_Missense_Mutation_p.L1282V|WNK1_ENST00000340908.4_Missense_Mutation_p.L1122V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1529					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CGCACACTCACTAGATAAGAC	0.468													64	166	---	---	---	---	0	0
IL4R	3566	broad.mit.edu	37	16	27367221	27367221	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr16:27367221A>C	ENST00000395762.2	+	8	1022	c.763A>C	c.(763-765)Atc>Ctc	p.I255L	IL4R_ENST00000170630.2_Missense_Mutation_p.I255L|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Missense_Mutation_p.I240L|IL4R_ENST00000543915.2_Missense_Mutation_p.I255L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	255					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTATGTCAGCATCACCAAGTG	0.612													6	42	---	---	---	---	0	0
EVPL	2125	broad.mit.edu	37	17	74006445	74006445	+	Silent	SNP	G	G	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr17:74006445G>C	ENST00000301607.3	-	22	3094	c.2841C>G	c.(2839-2841)acC>acG	p.T947T	EVPL_ENST00000586740.1_Silent_p.T969T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	947	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGGCCGCTGGGTCCTCAGCT	0.667													11	36	---	---	---	---	0	0
ZNF750	79755	broad.mit.edu	37	17	80790121	80790121	+	Silent	SNP	T	T	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr17:80790121T>G	ENST00000269394.3	-	2	1043	c.210A>C	c.(208-210)tcA>tcC	p.S70S	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	70						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGGGTCTAGTGAGTTAGATT	0.473													21	86	---	---	---	---	0	0
EPB41L3	23136	broad.mit.edu	37	18	5398057	5398057	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr18:5398057A>G	ENST00000341928.2	-	17	2775	c.2435T>C	c.(2434-2436)aTa>aCa	p.I812T	EPB41L3_ENST00000342933.3_Missense_Mutation_p.I812T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Missense_Mutation_p.I117T|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.I643T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.I109T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	812	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AACCCCTCCTATGAATTCTGT	0.443													38	163	---	---	---	---	0	0
PHACTR3	116154	broad.mit.edu	37	20	58348360	58348360	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr20:58348360A>T	ENST00000371015.1	+	6	1245	c.778A>T	c.(778-780)Agc>Tgc	p.S260C	PHACTR3_ENST00000361300.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S257C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S219C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S219C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S219C	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	260						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCAAGCCTCCAGCATGAAGAG	0.632													22	57	---	---	---	---	0	0
SPEN	23013	broad.mit.edu	37	1	16257094	16257094	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:16257094C>T	ENST00000375759.3	+	11	4563	c.4359C>T	c.(4357-4359)tcC>tcT	p.S1453S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1453					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.S1453S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGCTAAATCCCTCTCTTCAT	0.363													66	163	---	---	---	---	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17958926	17958926	+	Silent	SNP	C	C	T	rs116425261	by1000genomes	TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:17958926C>T	ENST00000361221.3	+	16	1854	c.1695C>T	c.(1693-1695)ctC>ctT	p.L565L	ARHGEF10L_ENST00000375420.3_Silent_p.L323L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.L526L|ARHGEF10L_ENST00000375408.3_Silent_p.L343L|ARHGEF10L_ENST00000434513.1_Silent_p.L565L|ARHGEF10L_ENST00000167825.4_Silent_p.L273L|ARHGEF10L_ENST00000452522.1_Silent_p.L526L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	565					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.L565L(3)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCTTCCTGCTCAACGACATGC	0.602													7	288	---	---	---	---	0	0
NBPF3	84224	broad.mit.edu	37	1	21799965	21799965	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:21799965C>A	ENST00000318220.6	+	10	1707	c.659C>A	c.(658-660)tCc>tAc	p.S220Y	NBPF3_ENST00000318249.5_Missense_Mutation_p.S276Y|NBPF3_ENST00000454000.2_Missense_Mutation_p.S206Y|NBPF3_ENST00000342104.5_Missense_Mutation_p.S276Y			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	276						cytoplasm		p.S276Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTTGTGAGTCCAACCAGCCT	0.493													7	436	---	---	---	---	0	0
ZMYM4	9202	broad.mit.edu	37	1	35855556	35855556	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:35855556A>G	ENST00000314607.6	+	15	2524	c.2444A>G	c.(2443-2445)aAa>aGa	p.K815R	ZMYM4_ENST00000373297.2_Missense_Mutation_p.K726R	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	815					multicellular organismal development		DNA binding|zinc ion binding	p.K815R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGATGGCCAAATGTGATGCT	0.368													24	87	---	---	---	---	0	0
NSUN4	387338	broad.mit.edu	37	1	46818651	46818651	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:46818651C>A	ENST00000474844.1	+	4	1354	c.704C>A	c.(703-705)tCa>tAa	p.S235*	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Nonsense_Mutation_p.S186*|NSUN4_ENST00000537428.1_Nonsense_Mutation_p.S186*	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	235							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					CGAGTTACCTCATGGGATGGC	0.517													4	201	---	---	---	---	0	0
C1orf173	127254	broad.mit.edu	37	1	75072359	75072359	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:75072359A>T	ENST00000326665.5	-	10	1633	c.1415T>A	c.(1414-1416)gTg>gAg	p.V472E	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V275E	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	472	Glu-rich.							p.V472E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATTTCCTCCACAGCAGTTAC	0.363													9	495	---	---	---	---	0	0
CDC7	8317	broad.mit.edu	37	1	91989955	91989955	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:91989955C>A	ENST00000428239.1	+	12	1947	c.1688C>A	c.(1687-1689)gCt>gAt	p.A563D	CDC7_ENST00000430031.2_Missense_Mutation_p.A535D|CDC7_ENST00000234626.6_Missense_Mutation_p.A563D	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	563	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A563D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GCAGAAGAAGCTTTGTTGCAT	0.328													14	263	---	---	---	---	0	0
ABCD3	5825	broad.mit.edu	37	1	94980700	94980700	+	Splice_Site	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:94980700A>G	ENST00000370214.4	+	22	1869		c.e22-1		ABCD3_ENST00000394233.2_Splice_Site|ABCD3_ENST00000536817.1_Splice_Site|ABCD3_ENST00000454898.2_Splice_Site|ABCD3_ENST00000484213.1_Splice_Site	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TCTTTGTATTAGGTTGGCATC	0.328													3	245	---	---	---	---	0	0
LRIG2	9860	broad.mit.edu	37	1	113655223	113655223	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:113655223A>G	ENST00000361127.5	+	14	2119	c.1921A>G	c.(1921-1923)Act>Gct	p.T641A	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2		Ig-like C2-type 2.					cytoplasm|integral to membrane|plasma membrane		p.T641A(2)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGATGGTGGTACTGACTTTCC	0.493													5	201	---	---	---	---	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576525	158576525	+	Silent	SNP	C	C	T	rs146841755		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:158576525C>T	ENST00000361284.1	+	1	297	c.297C>T	c.(295-297)gcC>gcT	p.A99A		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A99A(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCTGTGCTGCCCAGATGTTCT	0.542													107	396	---	---	---	---	0	0
IFRG15	0	broad.mit.edu	37	1	179833985	179833985	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:179833985G>T	ENST00000553856.1	-	1	326	c.327C>A	c.(325-327)aaC>aaA	p.N109K	TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000609928.1_Intron	NM_022347.3	NP_071742.1												p.N109K(2)									GTAATGCAGGGTTAAAACCAG	0.383													9	276	---	---	---	---	0	0
NR5A2	2494	broad.mit.edu	37	1	200089985	200089985	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:200089985T>C	ENST00000367362.3	+	7	1526	c.1280T>C	c.(1279-1281)cTc>cCc	p.L427P	NR5A2_ENST00000236914.3_Missense_Mutation_p.L381P|NR5A2_ENST00000544748.1_Missense_Mutation_p.L355P	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	427					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTCAACAACCTCATGAGTCAT	0.418													3	209	---	---	---	---	0	0
IRF6	3664	broad.mit.edu	37	1	209963071	209963071	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:209963071A>C	ENST00000367021.3	-	8	1292	c.1120T>G	c.(1120-1122)Tgc>Ggc	p.C374G	IRF6_ENST00000542854.1_Missense_Mutation_p.C279G	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	374			C -> W (in VWS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.C374G(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCCCAAAGCATAAGTAGATC	0.443										HNSCC(57;0.16)			3	156	---	---	---	---	0	0
LBR	3930	broad.mit.edu	37	1	225607439	225607439	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:225607439T>C	ENST00000338179.2	-	4	553	c.428A>G	c.(427-429)gAc>gGc	p.D143G	LBR_ENST00000272163.4_Missense_Mutation_p.D143G	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	143	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	p.D143G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATGAGGTGCGTCATTTCTCTC	0.348													4	297	---	---	---	---	0	0
REG3G	130120	broad.mit.edu	37	2	79255008	79255008	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:79255008C>G	ENST00000272324.5	+	5	593	c.409C>G	c.(409-411)Ccc>Gcc	p.P137A	REG3G_ENST00000393897.2_Missense_Mutation_p.P137A|REG3G_ENST00000409471.1_Missense_Mutation_p.P91A	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	137	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.P137A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGAAAAATCCCTCCACCAT	0.517													70	183	---	---	---	---	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089935	113089935	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:113089935A>G	ENST00000409871.1	+	12	3841	c.3440A>G	c.(3439-3441)gAt>gGt	p.D1147G	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D1147G	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1147							nucleic acid binding|zinc ion binding	p.D1147G(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAGTACAGTGATCCAAGGCAG	0.517													6	149	---	---	---	---	0	0
GYPC	2995	broad.mit.edu	37	2	127453705	127453705	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:127453705A>T	ENST00000259254.4	+	4	705	c.374A>T	c.(373-375)gAg>gTg	p.E125V	GYPC_ENST00000356887.7_Missense_Mutation_p.E104V|GYPC_ENST00000409836.3_Missense_Mutation_p.E106V|GYPC_ENST00000464053.1_3'UTR	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	125						cortical cytoskeleton|integral to plasma membrane	protein binding	p.E125V(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		AGCAGAAAGGAGTACTTTATT	0.547													14	76	---	---	---	---	0	0
ACVR1C	130399	broad.mit.edu	37	2	158401075	158401075	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:158401075C>A	ENST00000243349.8	-	5	1185	c.825G>T	c.(823-825)caG>caT	p.Q275H	ACVR1C_ENST00000409680.3_Missense_Mutation_p.Q225H|ACVR1C_ENST00000335450.7_Missense_Mutation_p.Q195H|ACVR1C_ENST00000348328.5_Missense_Mutation_p.Q118H	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC		Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATAAGGAGCCCTGTTCATGAT	0.383													4	171	---	---	---	---	0	0
HOXD3	3232	broad.mit.edu	37	2	177034058	177034058	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:177034058C>T	ENST00000468418.3	+	3	2306	c.216C>T	c.(214-216)agC>agT	p.S72S	HOXD3_ENST00000410016.1_Silent_p.S72S|HOXD3_ENST00000249440.3_Silent_p.S72S			P31249	HXD3_HUMAN	homeobox D3	72					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S72S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CCATCCAGAGCTCTGCCCCTC	0.652													36	101	---	---	---	---	0	0
TNS1	7145	broad.mit.edu	37	2	218750505	218750505	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:218750505T>C	ENST00000171887.4	-	13	1155	c.703A>G	c.(703-705)Acc>Gcc	p.T235A	TNS1_ENST00000310858.6_Missense_Mutation_p.T266A|TNS1_ENST00000430930.1_Missense_Mutation_p.T235A|TNS1_ENST00000419504.1_Missense_Mutation_p.T235A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	235	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding	p.T235A(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCTCGATGGTGATGCAGACG	0.532													6	145	---	---	---	---	0	0
KLHL2	11275	broad.mit.edu	37	4	166218818	166218818	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:166218818A>C	ENST00000226725.6	+	7	971	c.712A>C	c.(712-714)Atg>Ctg	p.M238L	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000538127.1_Missense_Mutation_p.M150L|KLHL2_ENST00000421009.2_Missense_Mutation_p.M141L|KLHL2_ENST00000506761.1_Missense_Mutation_p.M72L|KLHL2_ENST00000514860.1_Missense_Mutation_p.M242L	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	238					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	p.M238L(2)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GCAAGAGTTTATGGCCCGACT	0.393													4	174	---	---	---	---	0	0
CDH12	1010	broad.mit.edu	37	5	21755850	21755850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:21755850G>A	ENST00000382254.1	-	14	2821	c.1735C>T	c.(1735-1737)Cag>Tag	p.Q579*	CDH12_ENST00000522262.1_Nonsense_Mutation_p.Q539*|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q579*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	579	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q579*(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGCTGCTCTGGACAGGGTAG	0.468										HNSCC(59;0.17)			4	207	---	---	---	---	0	0
MTMR12	54545	broad.mit.edu	37	5	32274132	32274132	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:32274132A>C	ENST00000382142.3	-	3	409	c.239T>G	c.(238-240)tTc>tGc	p.F80C	MTMR12_ENST00000280285.5_Missense_Mutation_p.F80C|MTMR12_ENST00000264934.5_Missense_Mutation_p.F80C	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	80						cytoplasm	phosphatase activity	p.F80C(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGCAATCTTGAAGTCTGTGCA	0.483													12	310	---	---	---	---	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54635836	54635836	+	Splice_Site	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:54635836A>G	ENST00000230640.5	+	6	769		c.e6-1		SKIV2L2_ENST00000545714.1_Splice_Site	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)						maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.?(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCACATTTGTAGGTATGCCAT	0.303													25	120	---	---	---	---	0	0
ARSB	411	broad.mit.edu	37	5	78260259	78260259	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:78260259T>G	ENST00000264914.4	-	3	1206	c.670A>C	c.(670-672)Act>Cct	p.T224P	ARSB_ENST00000396151.3_Missense_Mutation_p.T224P|ARSB_ENST00000565165.1_Missense_Mutation_p.T224P	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	224					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GGATGGTTAGTTATGAGGGCT	0.363													3	191	---	---	---	---	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786251	121786251	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:121786251G>T	ENST00000261367.7	+	12	3278	c.1850G>T	c.(1849-1851)aGa>aTa	p.R617I	SNCAIP_ENST00000379538.3_Missense_Mutation_p.R204I|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R128I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R510I|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R617I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R172I|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R570I|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	570					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.R617I(1)|p.R570I(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCTGCCTCCAGAAAGTCCCAG	0.458													11	348	---	---	---	---	0	0
MATR3	9782	broad.mit.edu	37	5	138643657	138643657	+	Silent	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:138643657A>C	ENST00000394800.2	+	6	1102	c.553A>C	c.(553-555)Aga>Cga	p.R185R	MATR3_ENST00000509990.1_Silent_p.R185R|MATR3_ENST00000361059.2_Silent_p.R185R|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Silent_p.R185R|MATR3_ENST00000510056.1_Silent_p.R185R|MATR3_ENST00000394805.3_Silent_p.R185R			P43243	MATR3_HUMAN	matrin 3	185						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	p.R185R(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGCACTTTAGAAGAGATAG	0.443													5	143	---	---	---	---	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407223	148407223	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:148407223G>A	ENST00000538184.1	-	7	1601	c.713C>T	c.(712-714)gCc>gTc	p.A238V	SH3TC2_ENST00000512049.1_Missense_Mutation_p.A684V|SH3TC2_ENST00000515425.1_Missense_Mutation_p.A691V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A576V			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	691							binding	p.A576V(1)|p.A691V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGACAGAGGCCACTGCAAG	0.527													49	176	---	---	---	---	0	0
ATP10B	23120	broad.mit.edu	37	5	160042863	160042863	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:160042863T>G	ENST00000327245.5	-	17	3481	c.2635A>C	c.(2635-2637)Aat>Cat	p.N879H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	879					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.N879H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGAGTTGATTCTCCAGATGC	0.493													114	173	---	---	---	---	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252136	26252136	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:26252136G>T	ENST00000356350.2	+	1	258	c.258G>T	c.(256-258)aaG>aaT	p.K86N		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	86					nucleosome assembly	nucleosome|nucleus	DNA binding	p.K86N(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						ATTACAACAAGCGTTCGACCA	0.607													15	167	---	---	---	---	0	0
BTN3A1	0	broad.mit.edu	37	6	26407900	26407900	+	Splice_Site	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:26407900A>T	ENST00000289361.6	+	4	803	c.435A>T	c.(433-435)gcA>gcT	p.A145A	BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000425234.2_Splice_Site_p.A145A|BTN3A1_ENST00000476549.2_Splice_Site_p.A145A	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	145	Ig-like V-type 2.				lipid metabolic process	integral to membrane		p.A145A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTCCACAGCACTGGGTTCTG	0.473													4	111	---	---	---	---	0	0
ROS1	6098	broad.mit.edu	37	6	117663708	117663708	+	Splice_Site	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:117663708C>A	ENST00000368508.3	-	28	4723		c.e28-1		ROS1_ENST00000368507.3_Splice_Site|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase						transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.?(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTGAAATTCCTGTAATTGAT	0.254			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								14	46	---	---	---	---	0	0
ABCB5	340273	broad.mit.edu	37	7	20685387	20685387	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:20685387C>T	ENST00000404938.2	+	8	1339	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	415					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATGGTCATCTCATTGACCA	0.403													4	231	---	---	---	---	0	0
SUMF2	25870	broad.mit.edu	37	7	56142370	56142370	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:56142370G>A	ENST00000434526.2	+	5	564	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	SUMF2_ENST00000395436.2_Missense_Mutation_p.R163Q|SUMF2_ENST00000413756.1_Missense_Mutation_p.R159Q|SUMF2_ENST00000275607.9_Missense_Mutation_p.R71Q|SUMF2_ENST00000342190.6_Missense_Mutation_p.R178Q|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	159						endoplasmic reticulum lumen	metal ion binding	p.R159L(1)|p.R178L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTGCTTGGCGGGGAAAACGA	0.587											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	226	---	---	---	---	0	0
SEMA3D	223117	broad.mit.edu	37	7	84694822	84694822	+	Silent	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:84694822A>G	ENST00000284136.6	-	6	679	c.636T>C	c.(634-636)gaT>gaC	p.D212D	SEMA3D_ENST00000444867.1_Silent_p.D212D	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	212	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.D212D(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAATGCAGTATCTTTGCCAA	0.423													6	95	---	---	---	---	0	0
PON2	5445	broad.mit.edu	37	7	95053856	95053856	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:95053856A>G	ENST00000536183.1	-	2	362	c.179T>C	c.(178-180)cTt>cCt	p.L60P	PON2_ENST00000433091.2_Missense_Mutation_p.L39P|PON2_ENST00000222572.3_Missense_Mutation_p.L39P	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	39					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	p.L39P(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GCAGTGTGGAAGGTCTACAGA	0.333													16	183	---	---	---	---	0	0
PAXIP1	22976	broad.mit.edu	37	7	154754078	154754078	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:154754078G>A	ENST00000404141.1	-	10	2234	c.2080C>T	c.(2080-2082)Cac>Tac	p.H694Y	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.H694Y			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	694	BRCT 3.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		p.H660Y(1)|p.H694Y(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACTGGGAAGTGAAGGGCTCGG	0.468													5	163	---	---	---	---	0	0
MPDZ	8777	broad.mit.edu	37	9	13224386	13224386	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:13224386T>G	ENST00000319217.7	-	4	627	c.380A>C	c.(379-381)aAa>aCa	p.K127T	MPDZ_ENST00000541718.1_Missense_Mutation_p.K127T|MPDZ_ENST00000536827.1_Missense_Mutation_p.K127T|MPDZ_ENST00000546205.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381015.4_Missense_Mutation_p.K127T|MPDZ_ENST00000447879.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381022.2_Missense_Mutation_p.K127T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	127					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.K127T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGCCATATTTTTGATAAGCTG	0.338													53	207	---	---	---	---	0	0
MSMP	692094	broad.mit.edu	37	9	35753744	35753744	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:35753744T>G	ENST00000436428.2	-	2	291	c.152A>C	c.(151-153)aAa>aCa	p.K51T	RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_5'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	51						extracellular region		p.K51T(1)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						GGTAAAATATTTCCCCTCATA	0.537													9	60	---	---	---	---	0	0
VPS13A	23230	broad.mit.edu	37	9	79938099	79938099	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:79938099A>G	ENST00000360280.3	+	45	6207	c.5947A>G	c.(5947-5949)Aca>Gca	p.T1983A	VPS13A_ENST00000376636.3_Missense_Mutation_p.T1944A|VPS13A_ENST00000376634.4_Missense_Mutation_p.T1983A|VPS13A_ENST00000357409.5_Missense_Mutation_p.T1983A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1983					Golgi to endosome transport|protein transport	intracellular	protein binding	p.T1983A(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCAAATTGATACAGTAGAAGG	0.403													3	186	---	---	---	---	0	0
SNX30	401548	broad.mit.edu	37	9	115631068	115631068	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:115631068T>C	ENST00000374232.3	+	9	1423	c.1259T>C	c.(1258-1260)cTc>cCc	p.L420P	SNX30_ENST00000604751.1_Intron	NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	420					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTCCAGTGCCTCATGGCGTGG	0.493													3	195	---	---	---	---	0	0
GOLGA2	2801	broad.mit.edu	37	9	131023799	131023799	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:131023799T>A	ENST00000421699.2	-	15	1197	c.1185A>T	c.(1183-1185)aaA>aaT	p.K395N	GOLGA2_ENST00000609374.1_Missense_Mutation_p.K383N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	395						Golgi cisterna membrane	protein binding	p.K383N(1)|p.K395N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTCCGCATATTTATCTCTCT	0.517													9	217	---	---	---	---	0	0
ARID5B	84159	broad.mit.edu	37	10	63851205	63851205	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:63851205C>G	ENST00000279873.7	+	10	2393	c.1983C>G	c.(1981-1983)gaC>gaG	p.D661E	ARID5B_ENST00000309334.5_Missense_Mutation_p.D418E	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	661					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.D661E(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAGACAAAGACCTGACTGGGC	0.537													3	59	---	---	---	---	0	0
MICU1	10367	broad.mit.edu	37	10	74135571	74135571	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:74135571C>G	ENST00000398761.4	-	13	1378	c.1246G>C	c.(1246-1248)Gat>Cat	p.D416H	MICU1_ENST00000361114.5_Missense_Mutation_p.D414H|MICU1_ENST00000398763.4_Missense_Mutation_p.D216H|MICU1_ENST00000418483.2_Missense_Mutation_p.D216H|MICU1_ENST00000401998.3_Missense_Mutation_p.D414H			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	414	EF-hand 2.				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	p.D414H(1)|p.D416H(1)									AACACCACATCACACACGTGG	0.537													6	22	---	---	---	---	0	0
PTEN	5728	broad.mit.edu	37	10	89692871	89692871	+	Missense_Mutation	SNP	G	G	T	rs139767111		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:89692871G>T	ENST00000371953.3	+	5	1712	c.355G>T	c.(355-357)Gtt>Ttt	p.V119F		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	119	Phosphatase tensin-type.		V -> L (in multiple cancers).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.V119F(2)|p.V119fs*15(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGACAATCATGTTGCAGCAAT	0.403		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			58	83	---	---	---	---	0	0
CCDC147	159686	broad.mit.edu	37	10	106125599	106125599	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:106125599A>C	ENST00000369704.3	+	5	759	c.625A>C	c.(625-627)Aac>Cac	p.N209H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	209								p.N209H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCAACGTCAGAACGAAGCTTC	0.512													4	86	---	---	---	---	0	0
OR5T1	390155	broad.mit.edu	37	11	56043918	56043918	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:56043918C>T	ENST00000313033.2	+	1	890	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L268L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGACAATCCTCTTCATGTATG	0.428													165	329	---	---	---	---	0	0
VWCE	220001	broad.mit.edu	37	11	61034970	61034970	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:61034970C>T	ENST00000335613.5	-	16	2315	c.1929G>A	c.(1927-1929)ccG>ccA	p.P643P	VWCE_ENST00000535710.1_Silent_p.P108P	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	643	VWFC 5.					extracellular region	calcium ion binding	p.P643P(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCAGCACAGACGGGAAGGTCT	0.597													40	83	---	---	---	---	0	0
FERMT3	83706	broad.mit.edu	37	11	63978262	63978262	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:63978262G>T	ENST00000279227.5	+	3	435	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	FERMT3_ENST00000345728.5_Missense_Mutation_p.A114S	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	114					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	p.A114S(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCGCCTCCGTGCCAGCTTCTC	0.667													6	192	---	---	---	---	0	0
TIGD3	220359	broad.mit.edu	37	11	65123663	65123663	+	Silent	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:65123663A>G	ENST00000309880.5	+	2	591	c.384A>G	c.(382-384)aaA>aaG	p.K128K		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	128	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.K128K(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCCGCTGGAAACGCCGAAACA	0.657													7	62	---	---	---	---	0	0
DPP3	10072	broad.mit.edu	37	11	66259193	66259193	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:66259193C>T	ENST00000532677.1	+	9	1412	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	DPP3_ENST00000541961.1_Silent_p.Y318Y|DPP3_ENST00000360510.2_Silent_p.Y318Y|DPP3_ENST00000530165.1_Silent_p.Y288Y|DPP3_ENST00000531863.1_Silent_p.Y338Y|DPP3_ENST00000453114.1_Silent_p.Y318Y	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	318					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	p.Y318Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCGAGAGCTACCGCGACCCCT	0.612													6	390	---	---	---	---	0	0
KIF5A	3798	broad.mit.edu	37	12	57962799	57962799	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:57962799C>T	ENST00000455537.2	+	9	1042	c.768C>T	c.(766-768)aaC>aaT	p.N256N	KIF5A_ENST00000286452.5_Silent_p.N167N	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	256	Kinesin-motor.|Microtubule-binding.		Missing (in SPG10).|N -> S (in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover).		blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.N256N(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAATATCAACAAGTCACTGT	0.557													16	97	---	---	---	---	0	0
HELB	92797	broad.mit.edu	37	12	66696411	66696411	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:66696411C>A	ENST00000247815.4	+	1	87	c.28C>A	c.(28-30)Caa>Aaa	p.Q10K		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	10					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.Q10K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCTGCGCCAACTTCAGGG	0.557													6	116	---	---	---	---	0	0
GZMH	2999	broad.mit.edu	37	14	25076555	25076555	+	Missense_Mutation	SNP	T	T	G	rs144759599		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:25076555T>G	ENST00000216338.4	-	4	441	c.397A>C	c.(397-399)Aag>Cag	p.K133Q	GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	133	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.K133Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		ACCTGGGCCTTGCTGCTAGGT	0.572													7	116	---	---	---	---	0	0
OTX2	5015	broad.mit.edu	37	14	57268617	57268617	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:57268617C>G	ENST00000339475.5	-	5	1006	c.730G>C	c.(730-732)Gct>Cct	p.A244P	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.A236P|OTX2_ENST00000555006.1_Missense_Mutation_p.A236P	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	236					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.A244P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GAAAGAGAAGCTGGGGACTGA	0.502													66	128	---	---	---	---	0	0
UNC79	57578	broad.mit.edu	37	14	94060090	94060090	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:94060090C>A	ENST00000553484.1	+	23	3251	c.3097C>A	c.(3097-3099)Cat>Aat	p.H1033N	UNC79_ENST00000256339.4_Missense_Mutation_p.H856N|UNC79_ENST00000555664.1_Missense_Mutation_p.H1033N|UNC79_ENST00000393151.2_Missense_Mutation_p.H1033N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1033						integral to membrane		p.H856N(1)|p.H1033N(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCTTCTCCTCCATGCCCTGTC	0.493													5	279	---	---	---	---	0	0
TYRO3	7301	broad.mit.edu	37	15	41865931	41865931	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:41865931G>T	ENST00000263798.3	+	18	2424	c.2200G>T	c.(2200-2202)Gct>Tct	p.A734S	TYRO3_ENST00000559066.1_Missense_Mutation_p.A689S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	734	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GACGCCATATGCTGGCATCGA	0.562													4	189	---	---	---	---	0	0
TLN2	83660	broad.mit.edu	37	15	62978869	62978869	+	Silent	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:62978869G>T	ENST00000561311.1	+	11	1217	c.987G>T	c.(985-987)gtG>gtT	p.V329V	RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Silent_p.V329V			Q9Y4G6	TLN2_HUMAN	talin 2	329	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.V329V(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAGCTGGTGCCTCGCCTGC	0.537													12	31	---	---	---	---	0	0
LRRK1	79705	broad.mit.edu	37	15	101593153	101593153	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:101593153A>G	ENST00000284395.5	+	26	4107	c.3707A>G	c.(3706-3708)gAg>gGg	p.E1236G	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.E1239G			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1239					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1239G(1)|p.E1251G(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCAAGCTGGAGCACAGCGAG	0.692													3	60	---	---	---	---	0	0
SLX4	84464	broad.mit.edu	37	16	3640681	3640681	+	Silent	SNP	G	G	A	rs148111699		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:3640681G>A	ENST00000294008.3	-	12	3598	c.2958C>T	c.(2956-2958)ctC>ctT	p.L986L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	986	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.L986L(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGATGAGAAGAGCTGTTCGT	0.557								Direct reversal of damage					7	180	---	---	---	---	0	0
SMG1	23049	broad.mit.edu	37	16	18866183	18866183	+	Silent	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:18866183T>C	ENST00000446231.2	-	30	4690	c.4278A>G	c.(4276-4278)ctA>ctG	p.L1426L	SMG1_ENST00000389467.3_Silent_p.L1426L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1426	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTGCTGCTGTTAGACCTAATT	0.438													6	257	---	---	---	---	0	0
PDILT	204474	broad.mit.edu	37	16	20370791	20370791	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:20370791C>T	ENST00000302451.4	-	12	1853	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	535					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.S535S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCAGCTCAGGCGACTGCTGTT	0.502													12	468	---	---	---	---	0	0
GNAO1	2775	broad.mit.edu	37	16	56362633	56362633	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:56362633T>C	ENST00000262494.7	+	4	654	c.394T>C	c.(394-396)Tgg>Cgg	p.W132R	GNAO1_ENST00000262493.6_Missense_Mutation_p.W132R	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	132					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.W132R(3)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GATGCGGCTCTGGGGCGACTC	0.587													16	91	---	---	---	---	0	0
KCNH4	23415	broad.mit.edu	37	17	40328219	40328219	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:40328219T>G	ENST00000264661.3	-	5	1014	c.682A>C	c.(682-684)Atc>Ctc	p.I228L	KCNH4_ENST00000607371.1_Missense_Mutation_p.I228L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	228					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCGTCCCAGATGGCCTTGGAG	0.592													3	230	---	---	---	---	0	0
KIF2B	84643	broad.mit.edu	37	17	51900688	51900688	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:51900688G>T	ENST00000268919.4	+	1	450	c.294G>T	c.(292-294)ttG>ttT	p.L98F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	98					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.L98F(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCCCCCTTGGCTCTGGCGC	0.587													6	260	---	---	---	---	0	0
TRIM25	7706	broad.mit.edu	37	17	54969322	54969322	+	Silent	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:54969322G>A	ENST00000316881.4	-	9	1681	c.1632C>T	c.(1630-1632)cgC>cgT	p.R544R	TRIM25_ENST00000537230.1_Silent_p.R544R	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	544	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R544R(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					AGGCGCTGTTGCGGCCGAGCC	0.602													37	94	---	---	---	---	0	0
FSCN2	25794	broad.mit.edu	37	17	79496338	79496338	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:79496338G>T	ENST00000417245.2	+	1	917	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	FSCN2_ENST00000334850.7_Missense_Mutation_p.V261L	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	261					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	p.V261L(2)		endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCACCCACAGGTGGTGCTGGT	0.662													4	7	---	---	---	---	0	0
CXADRP3	0	broad.mit.edu	37	18	14479261	14479261	+	RNA	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr18:14479261C>T	ENST00000581457.1	-	0	647					NR_024076.1																						GCAGCAGGAGCGCCATGGTGG	0.597													4	17	---	---	---	---	0	0
PSMA8	143471	broad.mit.edu	37	18	23759096	23759096	+	Splice_Site	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr18:23759096T>C	ENST00000308268.6	+	6	767		c.e6+2		PSMA8_ENST00000415576.2_Splice_Site|PSMA8_ENST00000343848.6_Splice_Site	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCTTTGAAGGTAAGTCATTAA	0.313													3	172	---	---	---	---	0	0
UNC13A	23025	broad.mit.edu	37	19	17780382	17780382	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:17780382G>A	ENST00000428389.2	-	6	637	c.638C>T	c.(637-639)aCg>aTg	p.T213M	UNC13A_ENST00000519716.2_Missense_Mutation_p.T125M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T125M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T125M			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	125					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.T213M(2)|p.T125M(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCAAAGCGCGTGTCCAGGAG	0.612													3	64	---	---	---	---	0	0
ZNF676	163223	broad.mit.edu	37	19	22364321	22364321	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22364321C>T	ENST00000397121.2	-	3	515	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M66I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCAATATCATTTTTTGGA	0.303													5	148	---	---	---	---	0	0
ZNF98	148198	broad.mit.edu	37	19	22585674	22585674	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22585674G>T	ENST00000357774.5	-	3	291	c.170C>A	c.(169-171)tCt>tAt	p.S57Y	ZNF98_ENST00000601553.1_Missense_Mutation_p.S57Y	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S57Y(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTCTGGCTTAGAGGCAGCAAT	0.393													34	130	---	---	---	---	0	0
ZNF492	57615	broad.mit.edu	37	19	22836734	22836734	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22836734C>A	ENST00000456783.2	+	3	291	c.47C>A	c.(46-48)tCt>tAt	p.S16Y		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S16Y(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATTGCTGCCTCTAAGCCAGAC	0.398													14	151	---	---	---	---	0	0
ZNF536	9745	broad.mit.edu	37	19	31039026	31039026	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:31039026A>G	ENST00000355537.3	+	4	2647	c.2500A>G	c.(2500-2502)Agg>Ggg	p.R834G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	834					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R834G(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCTGTTCATCAGGCCAGACAT	0.587													5	225	---	---	---	---	0	0
GPI	2821	broad.mit.edu	37	19	34887247	34887247	+	Silent	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:34887247A>G	ENST00000415930.3	+	13	1307	c.1137A>G	c.(1135-1137)ggA>ggG	p.G379G	GPI_ENST00000356487.5_Silent_p.G368G|GPI_ENST00000586425.1_Silent_p.G368G	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	368					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCAAATCTGGAACCCGTGTGG	0.502													4	209	---	---	---	---	0	0
SUPT5H	6829	broad.mit.edu	37	19	39959750	39959750	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:39959750A>G	ENST00000599117.1	+	16	1542	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G	SUPT5H_ENST00000432763.2_Missense_Mutation_p.E392G|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E392G|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E388G|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E388G			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	392	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	p.E392G(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACACTCTCTGAGCTGGAAAAG	0.567													17	115	---	---	---	---	0	0
SPTBN4	57731	broad.mit.edu	37	19	41009977	41009977	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:41009977C>A	ENST00000352632.3	+	12	1689	c.1603C>A	c.(1603-1605)Ctt>Att	p.L535I	SPTBN4_ENST00000595535.1_Missense_Mutation_p.L535I|SPTBN4_ENST00000338932.3_Missense_Mutation_p.L535I|SPTBN4_ENST00000344104.3_Missense_Mutation_p.L535I|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L535I			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	535					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.L535I(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGCAGAACCTTGCCCTGCA	0.667													4	121	---	---	---	---	0	0
PSG8	0	broad.mit.edu	37	19	43259290	43259290	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:43259290G>T	ENST00000404209.4	-	4	934	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	PSG8_ENST00000406636.3_Missense_Mutation_p.L158I|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L187I|PSG8_ENST00000306511.4_Missense_Mutation_p.L280I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	280	Ig-like C2-type 2.					extracellular region		p.L280I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTGACCGGGAGGCTCTGACCA	0.448													95	584	---	---	---	---	0	0
ZC3H4	23211	broad.mit.edu	37	19	47589711	47589711	+	Missense_Mutation	SNP	C	C	T	rs653615		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:47589711C>T	ENST00000253048.5	-	6	837	c.800G>A	c.(799-801)gGc>gAc	p.G267D	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	267	Gly-rich.						nucleic acid binding|zinc ion binding	p.G267D(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCTGCCCCTGCCTCGGCTGCC	0.667													4	81	---	---	---	---	0	0
LILRA5	353514	broad.mit.edu	37	19	54823141	54823141	+	Silent	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:54823141C>A	ENST00000301219.3	-	4	521	c.402G>T	c.(400-402)gtG>gtT	p.V134V	LILRA5_ENST00000446712.3_Silent_p.V122V|LILRA5_ENST00000432233.3_Silent_p.V134V|LILRA5_ENST00000346508.3_Silent_p.V122V|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	134	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACCTGTCACCACCAGCTCCA	0.632													4	176	---	---	---	---	0	0
DDX27	55661	broad.mit.edu	37	20	47845307	47845307	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:47845307C>T	ENST00000371764.4	+	8	864	c.855C>T	c.(853-855)cgC>cgT	p.R285R	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	285	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R285R(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATAAACCCCGCCAGGCTCCAG	0.572													109	226	---	---	---	---	0	0
CTCFL	140690	broad.mit.edu	37	20	56099193	56099193	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:56099193C>T	ENST00000608263.1	-	1	730	c.69G>A	c.(67-69)ccG>ccA	p.P23P	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Silent_p.P23P|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000429804.3_Silent_p.P23P|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000423479.3_Silent_p.P23P|CTCFL_ENST00000608425.1_Silent_p.P23P|CTCFL_ENST00000609232.1_Silent_p.P23P|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000608158.1_Silent_p.P23P|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000422869.2_Silent_p.P23P|CTCFL_ENST00000432255.2_Silent_p.P23P|CTCFL_ENST00000481655.2_Silent_p.P23P|CTCFL_ENST00000371196.2_Silent_p.P23P|CTCFL_ENST00000608440.1_Silent_p.P23P	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.P23P(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGCCTTTTTCCGGCATCAACT	0.507													241	498	---	---	---	---	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884778	38884778	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr21:38884778G>C	ENST00000339659.4	+	11	3679	c.2209G>C	c.(2209-2211)Gaa>Caa	p.E737Q	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E746Q|DYRK1A_ENST00000455387.2_Missense_Mutation_p.E518Q	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A						nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.E746Q(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCTGATAGAGAAGAGTCCCC	0.438													7	178	---	---	---	---	0	0
RFPL1	5988	broad.mit.edu	37	22	29837851	29837851	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr22:29837851C>T	ENST00000354373.2	+	2	903	c.694C>T	c.(694-696)Ccg>Tcg	p.P232S	RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	232	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CAGCACGGTGCCGCTGACTTT	0.522													4	163	---	---	---	---	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716066	50716066	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr22:50716066T>C	ENST00000449103.1	-	33	5290	c.5150A>G	c.(5149-5151)cAg>cGg	p.Q1717R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1717R			O15031	PLXB2_HUMAN	plexin B2	1717					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.Q1760R(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATGAAGGTCTGCGCGATGAC	0.627													3	119	---	---	---	---	0	0
TSPAN7	7102	broad.mit.edu	37	X	38540490	38540490	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:38540490G>C	ENST00000378482.2	+	6	807	c.630G>C	c.(628-630)gaG>gaC	p.E210D	TSPAN7_ENST00000545599.1_Missense_Mutation_p.E184D|TM4SF2_ENST00000465127.1_Missense_Mutation_p.E240D|TSPAN7_ENST00000422612.2_Missense_Mutation_p.E236D|TSPAN7_ENST00000286824.6_Missense_Mutation_p.E227D	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	210					interspecies interaction between organisms	integral to plasma membrane		p.E210D(2)|p.E205D(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTTTCATGGAGACTAACATGG	0.478													59	105	---	---	---	---	0	0
ABCB7	22	broad.mit.edu	37	X	74318818	74318818	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:74318818C>A	ENST00000253577.3	-	4	439	c.415G>T	c.(415-417)Gct>Tct	p.A139S	ABCB7_ENST00000373394.3_Missense_Mutation_p.A138S|ABCB7_ENST00000339447.4_Intron	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	138					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	p.A139S(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCAACTCTAGCTCGTAGATCT	0.363													55	70	---	---	---	---	0	0
OR10R2	343406	broad.mit.edu	37	1	158449980	158449980	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:158449980C>G	ENST00000368152.1	+	1	313	c.313C>G	c.(313-315)Cta>Gta	p.L105V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L105V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GCTCATCAATCTACTTTCTGT	0.438													6	603	---	---	---	---	0	0
FMOD	2331	broad.mit.edu	37	1	203316790	203316790	+	Silent	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:203316790C>T	ENST00000354955.4	-	2	1072	c.609G>A	c.(607-609)acG>acA	p.T203T	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	203					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		p.T203T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTACAAGGCCGTGAGGTTCT	0.582													73	242	---	---	---	---	0	0
ITGB6	3694	broad.mit.edu	37	2	160994176	160994176	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:160994176C>A	ENST00000283249.2	-	10	1666	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W	ITGB6_ENST00000409967.2_Missense_Mutation_p.G477W|ITGB6_ENST00000409872.1_Missense_Mutation_p.G477W|ITGB6_ENST00000428609.2_Missense_Mutation_p.G435W	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	477	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	p.G477W(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCACACACCCCACACTGGAAA	0.572													4	92	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179444120	179444120	+	Splice_Site	SNP	A	A	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:179444120A>T	ENST00000589042.1	-	320	67861	c.67637T>A	c.(67636-67638)gTg>gAg	p.V22546E	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V13606E|TTN_ENST00000460472.2_Splice_Site_p.V13481E|TTN_ENST00000342992.6_Splice_Site_p.V19978E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.V20905E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.V13673E|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20905	Fibronectin type-III 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V13481E(2)|p.V19976E(1)|p.V13606E(1)|p.V19978E(1)|p.V13673E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAGGAGCCACTGTAAAATA	0.378													4	76	---	---	---	---	0	0
AOX1	316	broad.mit.edu	37	2	201468741	201468741	+	Splice_Site	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:201468741C>A	ENST00000374700.2	+	8	831	c.590C>A	c.(589-591)aCa>aAa	p.T197K		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	197					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.T197K(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCTTTTTAGACAAGTCCAAAA	0.383													10	146	---	---	---	---	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190217	209190217	+	Missense_Mutation	SNP	G	G	T	rs139157818	byFrequency	TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:209190217G>T	ENST00000264380.4	+	20	2840	c.2682G>T	c.(2680-2682)gaG>gaT	p.E894D		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	894					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.E894D(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCCTGATTGAGGGACGAGGGC	0.493													5	262	---	---	---	---	0	0
LNX1	84708	broad.mit.edu	37	4	54424152	54424152	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:54424152C>A	ENST00000306888.2	-	0	232				FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase							cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTGTGCTGCCTTCTCCCTGG	0.527													3	49	---	---	---	---	0	0
C4orf21	55345	broad.mit.edu	37	4	113468559	113468559	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:113468559T>C	ENST00000505019.1	-	24	5605	c.5480A>G	c.(5479-5481)gAg>gGg	p.E1827G		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0								p.E1827G(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTTTCACACTCAAACCTAAA	0.348													4	54	---	---	---	---	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806476	27806476	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:27806476A>C	ENST00000606613.1	+	1	98	c.37A>C	c.(37-39)Aaa>Caa	p.K13Q	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.K13Q			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	13					nucleosome assembly	nucleosome|nucleus	DNA binding	p.K13Q(1)		central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						TGCCCCGAAGAAAGGCTCCAA	0.552													5	201	---	---	---	---	0	0
BAI3	577	broad.mit.edu	37	6	69348738	69348738	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:69348738G>T	ENST00000370598.1	+	3	992	c.171G>T	c.(169-171)tgG>tgT	p.W57C		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	57	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W57C(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTGCACTTGGACGCTGGAAA	0.393													5	226	---	---	---	---	0	0
EFCAB1	79645	broad.mit.edu	37	8	49641698	49641698	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr8:49641698T>C	ENST00000433756.1	-	4	482	c.323A>G	c.(322-324)gAc>gGc	p.D108G	EFCAB1_ENST00000262103.3_Missense_Mutation_p.D160G|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D108G	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	160	EF-hand 2.						calcium ion binding	p.D160G(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CCCATCATGGTCATGATCCTA	0.408													3	151	---	---	---	---	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259894	71259894	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr11:71259894C>T	ENST00000528743.2	+	1	429	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	64	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament		p.S64F(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GGCTGTGGCTCCTGTGGGGGC	0.632													6	211	---	---	---	---	0	0
R3HDM2	22864	broad.mit.edu	37	12	57662763	57662763	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr12:57662763C>A	ENST00000402412.1	-	17	2207	c.1817G>T	c.(1816-1818)aGc>aTc	p.S606I	R3HDM2_ENST00000403821.2_Missense_Mutation_p.S626I|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000347140.3_Missense_Mutation_p.S592I|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S287I|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S592I|R3HDM2_ENST00000413953.2_Missense_Mutation_p.S319I			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	592	Gln-rich.					nucleus	nucleic acid binding	p.S253I(1)|p.S592I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCCCCCATGCTGCTCCTCTG	0.587													5	255	---	---	---	---	0	0
METTL3	56339	broad.mit.edu	37	14	21969230	21969230	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr14:21969230C>G	ENST00000298717.4	-	5	1092	c.941G>C	c.(940-942)tGc>tCc	p.C314S	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	314					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	p.C314S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGGAAAGAGCAGTCACCTAA	0.413													3	137	---	---	---	---	0	0
SNHG14	0	broad.mit.edu	37	15	25486926	25486926	+	RNA	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:25486926G>T	ENST00000453082.2	+	0	2156				SNORD115-39_ENST00000363694.1_RNA	NR_003343.1																						TTGTCCTGAAGAGAGGTGATG	0.478													11	536	---	---	---	---	0	0
ADAM10	102	broad.mit.edu	37	15	58902623	58902623	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:58902623T>C	ENST00000260408.3	-	14	2341	c.1898A>G	c.(1897-1899)aAc>aGc	p.N633S	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.N332S|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	633	Cys-rich.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	p.N633S(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TCTAAAATCGTTGCAAGGGGA	0.478													5	161	---	---	---	---	0	0
KIAA1199	57214	broad.mit.edu	37	15	81234649	81234649	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:81234649C>T	ENST00000394685.3	+	27	4089	c.3670C>T	c.(3670-3672)Cac>Tac	p.H1224Y	KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1224Y|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.H1224Y			Q8WUJ3	K1199_HUMAN	KIAA1199	1224								p.H1224Y(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCACTTCTTCCACCTCTGGAA	0.478													47	173	---	---	---	---	0	0
DNAH9	1770	broad.mit.edu	37	17	11790187	11790187	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:11790187G>A	ENST00000262442.4	+	57	11085	c.11017G>A	c.(11017-11019)Gag>Aag	p.E3673K	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K|DNAH9_ENST00000608377.1_5'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3673K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGAGGCCCGAGAGCACTACCG	0.527													7	180	---	---	---	---	0	0
LLGL1	3996	broad.mit.edu	37	17	18137336	18137336	+	Silent	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:18137336C>T	ENST00000316843.4	+	6	657	c.561C>T	c.(559-561)gaC>gaT	p.D187D		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	187					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	p.D187D(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCGTGCCAGACGACTACCGCT	0.652													5	32	---	---	---	---	0	0
KIAA0355	9710	broad.mit.edu	37	19	34818760	34818760	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:34818760G>A	ENST00000299505.6	+	5	1804	c.931G>A	c.(931-933)Gca>Aca	p.A311T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	311								p.A311T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCGATTGAAGCAAGTTTGCA	0.453													28	183	---	---	---	---	0	0
ZNF420	147923	broad.mit.edu	37	19	37618589	37618589	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:37618589T>A	ENST00000337995.3	+	5	911	c.696T>A	c.(694-696)ttT>ttA	p.F232L	ZNF420_ENST00000304239.7_Missense_Mutation_p.F232L|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F232L(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAAGCCTTTATTCGTAGCT	0.368													11	203	---	---	---	---	0	0
ZNF600	162966	broad.mit.edu	37	19	53270592	53270592	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:53270592A>C	ENST00000338230.3	-	3	684	c.417T>G	c.(415-417)taT>taG	p.Y139*		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y139*(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AATTATTCCCATAGTTATTAG	0.373													5	390	---	---	---	---	0	0
NRIP1	8204	broad.mit.edu	37	21	16338592	16338592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr21:16338592G>T	ENST00000400202.1	-	3	2634	c.1922C>A	c.(1921-1923)tCa>tAa	p.S641*	NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S641*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S641*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	641	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	p.S641*(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGACATGGATGACTGCATTCC	0.438													8	316	---	---	---	---	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28211980	28211980	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr21:28211980C>T	ENST00000284984.3	-	7	2408	c.1954G>A	c.(1954-1956)Gtc>Atc	p.V652I		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1		Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.V652I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTTGGTGAGACGCCAGCGTAC	0.468													20	299	---	---	---	---	0	0
SYN3	8224	broad.mit.edu	37	22	33260926	33260926	+	Silent	SNP	T	T	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr22:33260926T>C	ENST00000358763.2	-	6	929	c.687A>G	c.(685-687)acA>acG	p.T229T	SYN3_ENST00000332840.5_Silent_p.T229T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	229	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.T229T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGGGAAAAATGTTTGCTCCA	0.438													15	371	---	---	---	---	0	0
ZMYM3	9203	broad.mit.edu	37	X	70472907	70472907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:70472907C>A	ENST00000373998.1	-	2	896	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373978.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	67					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.E67*(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGGTCTTTTTCCAGGCCAGCA	0.642													3	30	---	---	---	---	0	0
POF1B	79983	broad.mit.edu	37	X	84561266	84561266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:84561266G>T	ENST00000262753.4	-	12	1383	c.1238C>A	c.(1237-1239)tCa>tAa	p.S413*	POF1B_ENST00000373145.3_Nonsense_Mutation_p.S413*	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	413							actin binding	p.S413*(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTCCATGTCTGATAGTGTATG	0.343													50	155	---	---	---	---	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869832	151869832	+	Silent	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:151869832C>T	ENST00000329342.5	+	3	747	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	174	MAGE.						protein binding	p.H174H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCGGCCACGTGTACATCT	0.532													13	143	---	---	---	---	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1148396	1148396	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:1148396G>T	ENST00000379236.3	-	3	350	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	116					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TAGCTGTCCAGGGGCTGGGTG	0.701													3	16	---	---	---	---	0	0
NADK	65220	broad.mit.edu	37	1	1685503	1685503	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:1685503C>A	ENST00000344463.4	-	12	1744	c.1523G>T	c.(1522-1524)gGg>gTg	p.G508V	NADK_ENST00000341991.3_Missense_Mutation_p.G363V|NADK_ENST00000341426.5_Missense_Mutation_p.G363V|NADK_ENST00000378625.1_Missense_Mutation_p.G508V|NADK_ENST00000342348.5_Missense_Mutation_p.G331V			O95544	NADK_HUMAN	NAD kinase	363					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CAGCTCGACCCCTGCGGGGAC	0.642													6	135	---	---	---	---	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074380	8074380	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:8074380G>T	ENST00000469499.1	-	3	413	c.202C>A	c.(202-204)Ccc>Acc	p.P68T	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000377482.5_Silent_p.P93P|ERRFI1_ENST00000474874.1_Intron			Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	0					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TAAGAAGAGGGGGCAAGCTGG	0.448													8	454	---	---	---	---	0	0
TMEM201	199953	broad.mit.edu	37	1	9661280	9661280	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:9661280C>A	ENST00000340305.5	+	5	733	c.724C>A	c.(724-726)Cca>Aca	p.P242T	TMEM201_ENST00000340381.6_Missense_Mutation_p.P242T|TMEM201_ENST00000377376.4_Missense_Mutation_p.P242T	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	242						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		ACACTTCGCCCCAGGCACCAC	0.687													5	73	---	---	---	---	0	0
UBE4B	10277	broad.mit.edu	37	1	10207136	10207136	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:10207136C>A	ENST00000377157.3	+	18	2905	c.1844C>A	c.(1843-1845)cCc>cAc	p.P615H	UBE4B_ENST00000343090.6_Missense_Mutation_p.P860H|UBE4B_ENST00000253251.8_Missense_Mutation_p.P731H	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	860					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATCCTGGACCCCGCATATCCC	0.493													6	292	---	---	---	---	0	0
PLOD1	5351	broad.mit.edu	37	1	12024347	12024347	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:12024347G>T	ENST00000196061.4	+	12	1345	c.1318G>T	c.(1318-1320)Ggg>Tgg	p.G440W	PLOD1_ENST00000376369.3_Missense_Mutation_p.G487W	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	440					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	p.G440W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CATTGTGCAGGGGCGGCGTGT	0.617													7	213	---	---	---	---	0	0
VPS13D	55187	broad.mit.edu	37	1	12313858	12313858	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:12313858G>T	ENST00000358136.3	+	7	774	c.644G>T	c.(643-645)gGg>gTg	p.G215V	VPS13D_ENST00000356315.4_Missense_Mutation_p.G215V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	215					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACTTTACTGGGGGATTTGCCT	0.473													7	205	---	---	---	---	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837551	12837551	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:12837551C>A	ENST00000357726.4	+	3	1288	c.1261C>A	c.(1261-1263)Cag>Aag	p.Q421K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	421										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATGATGCCCAGGGTGCTCT	0.562													5	170	---	---	---	---	0	0
FBXO42	54455	broad.mit.edu	37	1	16577701	16577701	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:16577701G>T	ENST00000375592.3	-	10	1834	c.1618C>A	c.(1618-1620)Cca>Aca	p.P540T		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	540										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACGTGAGGTGGGGTATGCACA	0.587													5	171	---	---	---	---	0	0
NBPF1	55672	broad.mit.edu	37	1	16907919	16907919	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:16907919G>T	ENST00000430580.2	-	15	2262	c.1375C>A	c.(1375-1377)Ccc>Acc	p.P459T		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	459	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTTACCTGGGGGCAGATGAT	0.433													13	1160	---	---	---	---	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808274	18808274	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:18808274C>A	ENST00000400664.1	+	1	851	c.799C>A	c.(799-801)Cgc>Agc	p.R267S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	267						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCATAGCCCGCGTCCGAAT	0.592													4	167	---	---	---	---	0	0
PQLC2	54896	broad.mit.edu	37	1	19644262	19644262	+	Missense_Mutation	SNP	C	C	A	rs141141870		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:19644262C>A	ENST00000375153.3	+	2	731	c.91C>A	c.(91-93)Cag>Aag	p.Q31K	PQLC2_ENST00000400548.2_Intron|PQLC2_ENST00000375155.3_Missense_Mutation_p.Q31K	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	31						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGAATGTGCCCAGGACGGCTG	0.592													8	553	---	---	---	---	0	0
KDM1A	23028	broad.mit.edu	37	1	23408760	23408760	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:23408760G>T	ENST00000400181.4	+	20	2450	c.2346G>T	c.(2344-2346)cgG>cgT	p.R782R	KDM1A_ENST00000356634.3_Silent_p.R758R|KDM1A_ENST00000542151.1_Silent_p.R782R|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	758	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCTGGGCTCGGGGCTCTTATT	0.498													5	100	---	---	---	---	0	0
HNRNPR	10236	broad.mit.edu	37	1	23650124	23650124	+	Silent	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:23650124T>C	ENST00000478691.1	-	5	568	c.297A>G	c.(295-297)ccA>ccG	p.P99P	HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000374612.1_Silent_p.P200P|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000374616.3_Silent_p.P200P	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	200	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.P200P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GACCGGACAGTGGATCCATCA	0.443													10	197	---	---	---	---	0	0
HMGCL	3155	broad.mit.edu	37	1	24129055	24129055	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:24129055C>A	ENST00000374483.4	-	10	1473		c.e10-1		HMGCL_ENST00000374490.3_Splice_Site|HMGCL_ENST00000436439.2_Splice_Site			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase						acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GATTCACACCCTTTGAGAAAC	0.448													4	96	---	---	---	---	0	0
UBXN11	91544	broad.mit.edu	37	1	26609170	26609170	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:26609170C>A	ENST00000314675.7	-	10	981	c.902G>T	c.(901-903)gGg>gTg	p.G301V	UBXN11_ENST00000374223.1_Missense_Mutation_p.G178V|UBXN11_ENST00000374222.1_Missense_Mutation_p.G421V|UBXN11_ENST00000374217.2_Missense_Mutation_p.G388V|UBXN11_ENST00000357089.4_Missense_Mutation_p.G388V|UBXN11_ENST00000374221.3_Missense_Mutation_p.G421V	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	421						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCGCACGTCCCCAATGGTGTT	0.642													5	129	---	---	---	---	0	0
ARID1A	8289	broad.mit.edu	37	1	27058085	27058085	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:27058085C>A	ENST00000324856.7	+	3	2164	c.1793C>A	c.(1792-1794)cCt>cAt	p.P598H	ARID1A_ENST00000374152.2_Missense_Mutation_p.P215H|ARID1A_ENST00000457599.2_Missense_Mutation_p.P598H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	598					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGCGCTTCCCTCCACCGCAG	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	154	---	---	---	---	0	0
SLC9A1	6548	broad.mit.edu	37	1	27427032	27427032	+	Missense_Mutation	SNP	C	C	A	rs138292060		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:27427032C>A	ENST00000263980.3	-	12	2789	c.2214G>T	c.(2212-2214)aaG>aaT	p.K738N	SLC9A1_ENST00000545949.1_Missense_Mutation_p.K399N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	738					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGACTTTGCCCTTCAGCTCTT	0.602													7	462	---	---	---	---	0	0
PTAFR	5724	broad.mit.edu	37	1	28476664	28476664	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:28476664G>T	ENST00000373857.3	-	2	1503	c.869C>A	c.(868-870)cCt>cAt	p.P290H	PTAFR_ENST00000539896.1_Missense_Mutation_p.P290H|PTAFR_ENST00000305392.3_Missense_Mutation_p.P290H	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	290					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGATAACAGGGTCTAAGAC	0.532													4	101	---	---	---	---	0	0
CSMD2	114784	broad.mit.edu	37	1	34286096	34286096	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:34286096C>A	ENST00000373381.4	-	8	1349	c.1173G>T	c.(1171-1173)agG>agT	p.R391S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	351	Sushi 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCTTTTGCCCCTTTCGGGTA	0.463													7	421	---	---	---	---	0	0
TEKT2	27285	broad.mit.edu	37	1	36552430	36552430	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:36552430C>A	ENST00000207457.3	+	5	741	c.614C>A	c.(613-615)cCc>cAc	p.P205H		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	205					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGTTGACCCCACACGTGTA	0.552													5	113	---	---	---	---	0	0
MANEAL	149175	broad.mit.edu	37	1	38265330	38265330	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:38265330C>A	ENST00000373045.6	+	4	1210	c.829C>A	c.(829-831)Cct>Act	p.P277T	MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Missense_Mutation_p.P55T|MANEAL_ENST00000525897.1_Missense_Mutation_p.P83T	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	277						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTGACGTCCCCTGAGGCCTG	0.572													7	241	---	---	---	---	0	0
INPP5B	3633	broad.mit.edu	37	1	38357094	38357094	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:38357094C>A	ENST00000373023.2	-	8	898	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	INPP5B_ENST00000373027.1_Missense_Mutation_p.G25W|INPP5B_ENST00000373026.1_Missense_Mutation_p.G269W|INPP5B_ENST00000373024.3_Missense_Mutation_p.G189W	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	269					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTCCCTTCCCATTTGGTCTC	0.448													7	293	---	---	---	---	0	0
MACF1	23499	broad.mit.edu	37	1	39768669	39768669	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:39768669C>A	ENST00000564288.1	+	23	3485	c.2708C>A	c.(2707-2709)cCc>cAc	p.P903H	MACF1_ENST00000539005.1_Missense_Mutation_p.P908H|MACF1_ENST00000317713.7_Missense_Mutation_p.P908H|MACF1_ENST00000545844.1_Missense_Mutation_p.P908H|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.P908H|MACF1_ENST00000567887.1_Missense_Mutation_p.P940H|MACF1_ENST00000372915.3_Missense_Mutation_p.P908H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	908	SH3.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGATCAGCCCCACAGGGAAC	0.473													5	86	---	---	---	---	0	0
MACF1	23499	broad.mit.edu	37	1	39910390	39910390	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:39910390G>T	ENST00000564288.1	+	80	20265	c.19488G>T	c.(19486-19488)aaG>aaT	p.K6496N	MACF1_ENST00000539005.1_Missense_Mutation_p.K4307N|MACF1_ENST00000317713.7_Missense_Mutation_p.K4437N|MACF1_ENST00000545844.1_Missense_Mutation_p.K4437N|MACF1_ENST00000361689.2_Missense_Mutation_p.K4437N|MACF1_ENST00000567887.1_Missense_Mutation_p.K6533N|MACF1_ENST00000372915.3_Missense_Mutation_p.K6395N|MACF1_ENST00000289893.4_Missense_Mutation_p.K4939N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6505					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TACTTGACAAGGGCAGACTCA	0.458													5	112	---	---	---	---	0	0
MACF1	23499	broad.mit.edu	37	1	39927561	39927561	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:39927561C>A	ENST00000564288.1	+	93	22307	c.21530C>A	c.(21529-21531)cCc>cAc	p.P7177H	MACF1_ENST00000539005.1_Missense_Mutation_p.P4988H|MACF1_ENST00000317713.7_Missense_Mutation_p.P5118H|MACF1_ENST00000545844.1_Missense_Mutation_p.P5118H|MACF1_ENST00000361689.2_Missense_Mutation_p.P5118H|MACF1_ENST00000567887.1_Missense_Mutation_p.P7214H|MACF1_ENST00000372915.3_Missense_Mutation_p.P7076H|MACF1_ENST00000289893.4_Missense_Mutation_p.P5620H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7076	C-terminal tail (By similarity).|GAR.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAGTTCCCCACCACCAAG	0.378													6	387	---	---	---	---	0	0
RLF	6018	broad.mit.edu	37	1	40688302	40688302	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:40688302G>T	ENST00000372771.4	+	6	894	c.867G>T	c.(865-867)gaG>gaT	p.E289D		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	289					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGGAATCTGAGGGGCAGGATA	0.373													6	251	---	---	---	---	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928275	40928275	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:40928275G>T	ENST00000411995.2	+	6	994	c.619G>T	c.(619-621)Ggg>Tgg	p.G207W	ZFP69B_ENST00000361584.3_Missense_Mutation_p.G105W|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		AATGGGTAAGGGGCAAATCCC	0.403													6	310	---	---	---	---	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050098	42050098	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:42050098G>T	ENST00000372584.1	-	3	1385	c.371C>A	c.(370-372)cCc>cAc	p.P124H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P124H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P124H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P124H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	124					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGTCTCATGGGGTCAACCAG	0.607													6	241	---	---	---	---	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44386558	44386558	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:44386558C>A	ENST00000262915.3	+	12	1380	c.1203C>A	c.(1201-1203)ccC>ccA	p.P401P	ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000361400.4_Silent_p.P316P|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361746.4_Silent_p.P401P|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372369.1_Silent_p.P302P|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000332628.6_Silent_p.P301P|ST3GAL3_ENST00000372374.2_Silent_p.P301P|ST3GAL3_ENST00000372372.2_Silent_p.P370P|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361392.4_Silent_p.P332P|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000351035.3_Silent_p.P370P|ST3GAL3_ENST00000347631.2_Silent_p.P347P|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372375.2_Silent_p.P386P|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372368.2_Silent_p.P386P	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	332					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCAACGCACCCCTGCACTACT	0.587													4	43	---	---	---	---	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515758	47515758	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:47515758C>A	ENST00000371901.3	+	12	1692	c.1442C>A	c.(1441-1443)cCc>cAc	p.P481H	CYP4X1_ENST00000538609.1_Missense_Mutation_p.P480H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	481						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACTCCAGACCCCACCAGGCCT	0.468													7	284	---	---	---	---	0	0
STIL	6491	broad.mit.edu	37	1	47746590	47746590	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:47746590C>A	ENST00000360380.3	-	13	1903	c.1540G>T	c.(1540-1542)Ggg>Tgg	p.G514W	STIL_ENST00000243182.6_Missense_Mutation_p.G514W|STIL_ENST00000396221.2_Missense_Mutation_p.G514W|STIL_ENST00000337817.5_Missense_Mutation_p.G514W|STIL_ENST00000371877.3_Missense_Mutation_p.G514W	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	514					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGGGGGTTCCCTTTCTTATAG	0.418													9	222	---	---	---	---	0	0
USP1	7398	broad.mit.edu	37	1	62910475	62910475	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:62910475G>T	ENST00000339950.4	+	6	1439	c.624G>T	c.(622-624)ttG>ttT	p.L208F	USP1_ENST00000371146.1_Missense_Mutation_p.L208F	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	208					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AATGTATTTTGGGAAACATTC	0.338													5	235	---	---	---	---	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861329	67861329	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:67861329C>A	ENST00000262345.1	+	16	2786	c.2146C>A	c.(2146-2148)Cca>Aca	p.P716T	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P630T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	716					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCAAGTGACCCCAGTTTTCAG	0.537													5	106	---	---	---	---	0	0
RPE65	6121	broad.mit.edu	37	1	68906685	68906685	+	Splice_Site	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:68906685T>C	ENST00000262340.5	-	6	549		c.e6-2			NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa						visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.?(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AAGATCAACCTACGGAAGTAA	0.428													4	79	---	---	---	---	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510218	77510218	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:77510218C>A	ENST00000477717.1	+	3	826	c.591C>A	c.(589-591)ccC>ccA	p.P197P		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	197					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGGTGCTGCCCCGGCTGAAGG	0.577													6	235	---	---	---	---	0	0
ZNF644	84146	broad.mit.edu	37	1	91405265	91405265	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:91405265C>A	ENST00000370440.1	-	3	1863	c.1646G>T	c.(1645-1647)gGg>gTg	p.G549V	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G549V|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TACCACTGCCCCATGTGCAAT	0.393													7	258	---	---	---	---	0	0
ABCA4	24	broad.mit.edu	37	1	94517240	94517240	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:94517240G>T	ENST00000370225.3	-	17	2688	c.2602C>A	c.(2602-2604)Cca>Aca	p.P868T	ABCA4_ENST00000535735.1_Missense_Mutation_p.P794T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	868					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAGGAAGTGGGGTTCCATAG	0.398													5	100	---	---	---	---	0	0
COL11A1	1301	broad.mit.edu	37	1	103462681	103462681	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:103462681C>A	ENST00000358392.2	-	26	2550		c.e26-1		COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGATGACCCTATATTTAGC	0.318													8	529	---	---	---	---	0	0
AMY2B	280	broad.mit.edu	37	1	104117851	104117851	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:104117851G>T	ENST00000361355.4	+	8	1501	c.885G>T	c.(883-885)tgG>tgT	p.W295C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	295					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATAGGAACTGGGGAGAAGGTT	0.418													15	1340	---	---	---	---	0	0
VAV3	10451	broad.mit.edu	37	1	108185310	108185310	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:108185310G>T	ENST00000370056.4	-	20	2119	c.1845C>A	c.(1843-1845)ccC>ccA	p.P615P	VAV3_ENST00000527011.1_Silent_p.P615P|VAV3_ENST00000415432.2_Silent_p.P55P|VAV3_ENST00000544443.1_Silent_p.P19P|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	615	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCTGTAAAGGGGGTCCTTCAT	0.478													6	203	---	---	---	---	0	0
CSF1	1435	broad.mit.edu	37	1	110466551	110466551	+	Silent	SNP	C	C	A	rs151241389		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110466551C>A	ENST00000329608.6	+	6	1699	c.1308C>A	c.(1306-1308)ccC>ccA	p.P436P	CSF1_ENST00000369802.3_Silent_p.P436P|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369801.1_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	436					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCGTGCTGCCCCTTGGGGAGC	0.682													5	132	---	---	---	---	0	0
AHCYL1	10768	broad.mit.edu	37	1	110562206	110562206	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110562206G>T	ENST00000369799.5	+	15	1790	c.1423G>T	c.(1423-1425)Ggg>Tgg	p.G475W	AHCYL1_ENST00000359172.3_Missense_Mutation_p.G428W|AHCYL1_ENST00000393614.4_Missense_Mutation_p.G428W	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	475					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TGCACCCGAGGGGCGATACAA	0.408													7	267	---	---	---	---	0	0
SLC16A4	9122	broad.mit.edu	37	1	110925493	110925493	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110925493C>G	ENST00000369779.4	-	3	432	c.183G>C	c.(181-183)tgG>tgC	p.W61C	SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C|SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	61						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.W61C(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TGGATCCAATCCAACCAATTT	0.408													62	156	---	---	---	---	0	0
CEPT1	10390	broad.mit.edu	37	1	111703854	111703854	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:111703854G>T	ENST00000545121.1	+	4	773	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	CEPT1_ENST00000357172.4_Missense_Mutation_p.G189W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	189						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TTGTTTTGCGGGGACATTTAT	0.383													9	575	---	---	---	---	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454708	114454708	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:114454708G>T	ENST00000369563.3	+	4	1940	c.1494G>T	c.(1492-1494)agG>agT	p.R498S	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	498					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAATTCAGGGGTCTAGCAC	0.507								Other identified genes with known or suspected DNA repair function					6	245	---	---	---	---	0	0
AMPD1	270	broad.mit.edu	37	1	115222228	115222228	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:115222228G>T	ENST00000369538.3	-	6	1003	c.956C>A	c.(955-957)cCc>cAc	p.P319H	AMPD1_ENST00000520113.2_Missense_Mutation_p.P323H|AMPD1_ENST00000353928.6_Missense_Mutation_p.P290H	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	290					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ATCTCGGTGGGGGTTGTTTTT	0.433													7	303	---	---	---	---	0	0
VANGL1	81839	broad.mit.edu	37	1	116202355	116202355	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:116202355C>A	ENST00000355485.2	+	3	436	c.165C>A	c.(163-165)ccC>ccA	p.P55P	VANGL1_ENST00000369510.4_Silent_p.P55P|VANGL1_ENST00000310260.3_Silent_p.P55P|VANGL1_ENST00000369509.1_Silent_p.P55P	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	55					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTGGAGAGCCCCTGTTGGGAA	0.488													6	190	---	---	---	---	0	0
ATP1A1	476	broad.mit.edu	37	1	116931321	116931321	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:116931321G>T	ENST00000537345.1	+	6	926	c.563G>T	c.(562-564)gGg>gTg	p.G188V	ATP1A1_ENST00000369496.4_Missense_Mutation_p.G157V|ATP1A1_ENST00000295598.5_Missense_Mutation_p.G188V	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	188					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GTTGTGGTTGGGGATCTGGTG	0.418													7	271	---	---	---	---	0	0
ATP1A1	476	broad.mit.edu	37	1	116932153	116932153	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:116932153C>A	ENST00000537345.1	+	8	1210	c.847C>A	c.(847-849)Ccc>Acc	p.P283T	ATP1A1_ENST00000369496.4_Missense_Mutation_p.P252T|ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000295598.5_Missense_Mutation_p.P283T	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	283					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGGCCAGACCCCCATTGCTGC	0.493													7	227	---	---	---	---	0	0
PTGFRN	5738	broad.mit.edu	37	1	117516926	117516926	+	Missense_Mutation	SNP	G	G	T	rs142086076		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117516926G>T	ENST00000393203.2	+	7	2295	c.2148G>T	c.(2146-2148)gaG>gaT	p.E716D	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	716	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCACTGTCGAGGGAGCAGCAC	0.438													6	240	---	---	---	---	0	0
PTGFRN	5738	broad.mit.edu	37	1	117529548	117529548	+	Missense_Mutation	SNP	C	C	T	rs140355100		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117529548C>T	ENST00000393203.2	+	9	2746	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	867						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.R867W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCAGGAGACACGGCGCGAGCG	0.617													56	108	---	---	---	---	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944807	117944807	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117944807G>T	ENST00000356554.3	+	2	1037		c.e2-1		MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TTTTCTCACAGGGAAGAGGAA	0.353													4	159	---	---	---	---	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882782	144882782	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:144882782C>A	ENST00000369359.4	-	27	3686	c.3648G>T	c.(3646-3648)aaG>aaT	p.K1216N	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1079N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1216N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1145N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1079N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1079					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCACCTCGCCCTTCTCCTTGT	0.517			T	PDGFRB	MPD								10	792	---	---	---	---	0	0
POLR3C	10623	broad.mit.edu	37	1	145601557	145601557	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:145601557G>T	ENST00000334163.3	-	7	1009	c.849C>A	c.(847-849)ccC>ccA	p.P283P	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Silent_p.P283P	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	283					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GCTGGGTGAAGGGAGCACTAG	0.418													5	118	---	---	---	---	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057837	152057837	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152057837G>T	ENST00000368806.1	-	3	2385	c.2321C>A	c.(2320-2322)cCc>cAc	p.P774H		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	774							calcium ion binding	p.P774H(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTTGACCAGGGGACTGAAGA	0.502													8	316	---	---	---	---	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057905	152057905	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152057905G>T	ENST00000368806.1	-	3	2317	c.2253C>A	c.(2251-2253)ccC>ccA	p.P751P		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	751							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGCTCTTGGGGACTTTCAT	0.453													10	399	---	---	---	---	0	0
RPTN	126638	broad.mit.edu	37	1	152127798	152127798	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152127798C>A	ENST00000316073.3	-	3	1841	c.1777G>T	c.(1777-1779)Ggg>Tgg	p.G593W		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	593	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTATTTTGCCCTTGTATTTCC	0.458													9	560	---	---	---	---	0	0
HRNR	388697	broad.mit.edu	37	1	152188056	152188056	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152188056C>A	ENST00000368801.2	-	3	6124	c.6049G>T	c.(6049-6051)Ggg>Tgg	p.G2017W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2017					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGCCCATGGGTAGAG	0.562													17	1601	---	---	---	---	0	0
HRNR	388697	broad.mit.edu	37	1	152195662	152195662	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152195662C>A	ENST00000368801.2	-	2	143	c.68G>T	c.(67-69)gGg>gTg	p.G23V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	23	EF-hand 1.|S-100-like.				keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCATACTCCCCATGCTGGGT	0.418													7	241	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152276103	152276103	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152276103C>A	ENST00000368799.1	-	3	11294	c.11259G>T	c.(11257-11259)gaG>gaT	p.E3753D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3753	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E3753D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCCTCTTGGGACG	0.617									Ichthyosis				9	710	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152277601	152277601	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152277601G>T	ENST00000368799.1	-	3	9796	c.9761C>A	c.(9760-9762)cCc>cAc	p.P3254H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3254	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P3254H(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGACCTGGGGTGTCTGGA	0.582									Ichthyosis				9	589	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152280128	152280128	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152280128C>A	ENST00000368799.1	-	3	7269	c.7234G>T	c.(7234-7236)Ggg>Tgg	p.G2412W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2412	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGAAAGACCCTGAACGTCCA	0.602									Ichthyosis				6	332	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152284559	152284559	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152284559C>A	ENST00000368799.1	-	3	2838	c.2803G>T	c.(2803-2805)Ggg>Tgg	p.G935W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	935	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G935W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGGACCCCTCTGATTGT	0.572									Ichthyosis				9	580	---	---	---	---	0	0
LCE2A	353139	broad.mit.edu	37	1	152671631	152671631	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152671631C>A	ENST00000368779.1	+	2	305	c.254C>A	c.(253-255)cCc>cAc	p.P85H		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	85	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCAGAGCCCCGATTGTTGT	0.652													5	91	---	---	---	---	0	0
LCE1C	353133	broad.mit.edu	37	1	152777624	152777624	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152777624C>T	ENST00000368768.1	-	2	381	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	LCE1C_ENST00000607093.1_Missense_Mutation_p.G111S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	111	Gly-rich.				keratinization			p.G111S(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTGCTGGCCACTCCCCCCG	0.657													14	39	---	---	---	---	0	0
LCE1A	353131	broad.mit.edu	37	1	152800255	152800255	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152800255G>A	ENST00000335123.2	+	1	307	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	103	Cys-rich.				keratinization			p.G103S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGGACAGCGGCCAGCACTC	0.622													4	14	---	---	---	---	0	0
NUP210L	91181	broad.mit.edu	37	1	153998193	153998193	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:153998193C>A	ENST00000368559.3	-	30	4019		c.e30-1		NUP210L_ENST00000368553.1_Splice_Site|NUP210L_ENST00000271854.3_Splice_Site	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like							integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGCTCCTTCCCTAGGGAACAA	0.473													7	333	---	---	---	---	0	0
C1orf189	388701	broad.mit.edu	37	1	154173005	154173005	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:154173005G>T	ENST00000368525.3	-	3	159	c.134C>A	c.(133-135)cCg>cAg	p.P45Q		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	45										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GGTGGCATACGGGTTTCTTCT	0.517													9	468	---	---	---	---	0	0
ASH1L	55870	broad.mit.edu	37	1	155385613	155385613	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:155385613C>A	ENST00000368346.3	-	6	6569	c.5930G>T	c.(5929-5931)aGg>aTg	p.R1977M	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1977M			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1977					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTCTTTTCCCTTGGGATGAG	0.453													7	342	---	---	---	---	0	0
KIAA0907	22889	broad.mit.edu	37	1	155883915	155883915	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:155883915G>T	ENST00000368321.3	-	14	1865	c.1842C>A	c.(1840-1842)ccC>ccA	p.P614P	KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	614										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTGTTTCCTAGGGAGCCATCC	0.443													6	173	---	---	---	---	0	0
PMF1	11243	broad.mit.edu	37	1	156203446	156203446	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156203446G>T	ENST00000368277.3	+	3	304	c.295G>T	c.(295-297)Ggg>Tgg	p.G99W	PMF1_ENST00000567140.1_Missense_Mutation_p.G99W|PMF1_ENST00000565805.1_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.G99W|PMF1_ENST00000368273.4_Missense_Mutation_p.G101W|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.G99W|PMF1_ENST00000368279.3_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.G99W	NM_007221.3	NP_009152.2			polyamine-modulated factor 1									p.G99R(1)		kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CAAAGAGGAGGGGAACCTAGA	0.478													6	310	---	---	---	---	0	0
TMEM79	84283	broad.mit.edu	37	1	156255745	156255745	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156255745G>T	ENST00000405535.2	+	2	899	c.728G>T	c.(727-729)gGg>gTg	p.G243V	TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Missense_Mutation_p.G243V|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	243						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CTGCGCTGCGGGGTCTTTGCC	0.607													6	227	---	---	---	---	0	0
HAPLN2	60484	broad.mit.edu	37	1	156593630	156593630	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156593630C>A	ENST00000255039.1	+	4	524	c.117C>A	c.(115-117)ccC>ccA	p.P39P		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	39	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTCCTGCCCCCCATCCACG	0.682													3	14	---	---	---	---	0	0
RRNAD1	51093	broad.mit.edu	37	1	156702827	156702827	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156702827G>T	ENST00000368216.4	+	4	1110	c.480G>T	c.(478-480)gtG>gtT	p.V160V	RRNAD1_ENST00000368218.4_Silent_p.V160V|RRNAD1_ENST00000476229.1_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	160						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TTGTAGACGTGGGCTCAGGCC	0.517													5	165	---	---	---	---	0	0
FCRL5	83416	broad.mit.edu	37	1	157494290	157494290	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:157494290C>A	ENST00000361835.3	-	10	2175	c.2018G>T	c.(2017-2019)gGg>gTg	p.G673V	FCRL5_ENST00000368191.3_Missense_Mutation_p.G588V|FCRL5_ENST00000356953.4_Missense_Mutation_p.G673V|FCRL5_ENST00000368190.3_Missense_Mutation_p.G673V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	673	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGCAGGTCCCCCACCACAGC	0.552													4	78	---	---	---	---	0	0
AIM2	9447	broad.mit.edu	37	1	159043120	159043120	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159043120C>A	ENST00000368130.4	-	2	458	c.170G>T	c.(169-171)gGg>gTg	p.G57V	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	57	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AGACACCGCCCCAGCATTTTG	0.393													6	154	---	---	---	---	0	0
DARC	2532	broad.mit.edu	37	1	159176132	159176132	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159176132C>A	ENST00000537147.1	+	3	1746	c.903C>A	c.(901-903)ccC>ccA	p.P301P	DARC_ENST00000368122.2_Silent_p.P301P|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Silent_p.P303P			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	301					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGGCTACGCCCCTGCTCCTCG	0.602													8	465	---	---	---	---	0	0
FCRL6	343413	broad.mit.edu	37	1	159785241	159785241	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159785241G>T	ENST00000321935.6	+	10	1278	c.1192G>T	c.(1192-1194)Ggg>Tgg	p.G398W	FCRL6_ENST00000339348.5_Intron|FCRL6_ENST00000392235.3_Missense_Mutation_p.G296W|FCRL6_ENST00000368106.3_Missense_Mutation_p.G391W	NM_001284217.1	NP_001271146.1	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	391						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GTTCACCGTGGGGAGAAAGGT	0.542													4	87	---	---	---	---	0	0
TAGLN2	8407	broad.mit.edu	37	1	159889590	159889590	+	Missense_Mutation	SNP	C	C	A	rs150286561		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159889590C>A	ENST00000368097.4	-	3	526	c.216G>T	c.(214-216)gaG>gaT	p.E72D	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Missense_Mutation_p.E93D|TAGLN2_ENST00000320307.4_Missense_Mutation_p.E72D	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	72	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGCCTGCCCCTCGGGGTACA	0.552													7	355	---	---	---	---	0	0
COPA	1314	broad.mit.edu	37	1	160260403	160260403	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:160260403G>T	ENST00000241704.7	-	32	3723	c.3494C>A	c.(3493-3495)cCc>cAc	p.P1165H	COPA_ENST00000368069.3_Missense_Mutation_p.P1174H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1165					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AATGTCAAAGGGGTTGTGCAT	0.493													8	285	---	---	---	---	0	0
COPA	1314	broad.mit.edu	37	1	160267460	160267460	+	Missense_Mutation	SNP	C	C	A	rs112109460		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:160267460C>A	ENST00000241704.7	-	20	2282	c.2053G>T	c.(2053-2055)Ggg>Tgg	p.G685W	COPA_ENST00000368069.3_Missense_Mutation_p.G694W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	685					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGTGGTTCCCCTGCAGCAGG	0.468													6	210	---	---	---	---	0	0
CD48	962	broad.mit.edu	37	1	160651144	160651144	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:160651144C>A	ENST00000368046.3	-	3	587	c.500G>T	c.(499-501)gGg>gTg	p.G167V	RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	167	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTTTTGTCCCCATACCAGGT	0.443													7	360	---	---	---	---	0	0
AL590714.1	0	broad.mit.edu	37	1	161192276	161192276	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:161192276G>T	ENST00000594609.1	+	2	211	c.211G>T	c.(211-213)Ggg>Tgg	p.G71W	APOA2_ENST00000470459.2_Intron|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000468465.1_Silent_p.P26P|APOA2_ENST00000464492.1_Silent_p.P107P|APOA2_ENST00000367990.3_Silent_p.P74P|APOA2_ENST00000463812.1_Silent_p.P26P																							TCTTGATCAGGGGTGTCAGCT	0.507													9	421	---	---	---	---	0	0
LMX1A	4009	broad.mit.edu	37	1	165175156	165175156	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:165175156G>T	ENST00000342310.3	-	8	1315	c.933C>A	c.(931-933)ccC>ccA	p.P311P	LMX1A_ENST00000367893.4_Silent_p.P311P|LMX1A_ENST00000294816.2_Silent_p.P311P|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	311						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCTGTCGGAAGGGATCTGAGC	0.592													5	154	---	---	---	---	0	0
FAM78B	149297	broad.mit.edu	37	1	166039992	166039992	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:166039992C>A	ENST00000338353.3	-	3	861	c.272G>T	c.(271-273)tGg>tTg	p.W91L	FAM78B_ENST00000354422.3_Missense_Mutation_p.W91L			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	91										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGGCAGTTCCCAGCTTGACCT	0.483													4	82	---	---	---	---	0	0
ILDR2	387597	broad.mit.edu	37	1	166927175	166927175	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:166927175C>A	ENST00000271417.3	-	2	265	c.210G>T	c.(208-210)ttG>ttT	p.L70F	ILDR2_ENST00000528703.1_Missense_Mutation_p.L70F|ILDR2_ENST00000526687.1_Missense_Mutation_p.L70F|ILDR2_ENST00000525740.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529387.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529071.1_Missense_Mutation_p.L70F|ILDR2_ENST00000469934.2_Missense_Mutation_p.L70F	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	70	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGGACATGCCCAAGGATTCTC	0.542													6	232	---	---	---	---	0	0
SELE	6401	broad.mit.edu	37	1	169696959	169696959	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:169696959C>A	ENST00000333360.7	-	9	1528	c.1389G>T	c.(1387-1389)gaG>gaT	p.E463D	SELE_ENST00000367774.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.E338D|SELE_ENST00000367776.1_Missense_Mutation_p.E400D|SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.E338D|SELE_ENST00000367781.4_Missense_Mutation_p.E400D|SELE_ENST00000367777.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	463	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ATTCAAATCCCTCCTCACAGC	0.498													6	251	---	---	---	---	0	0
ASTN1	460	broad.mit.edu	37	1	176984012	176984012	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:176984012C>A	ENST00000367654.3	-	8	1674		c.e8-1		ASTN1_ENST00000361833.2_Splice_Site|ASTN1_ENST00000281881.3_Splice_Site|ASTN1_ENST00000424564.2_Splice_Site|ASTN1_ENST00000367657.3_Splice_Site	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGCATTCCCCTTAGAAGCAG	0.423													7	516	---	---	---	---	0	0
XPR1	9213	broad.mit.edu	37	1	180794397	180794397	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:180794397C>A	ENST00000367590.4	+	9	1249	c.1051C>A	c.(1051-1053)Ctt>Att	p.L351I	XPR1_ENST00000367589.3_Missense_Mutation_p.L351I	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	351						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCCACTTGCCCTTTATGGATT	0.438													8	476	---	---	---	---	0	0
LAMC2	3918	broad.mit.edu	37	1	183177169	183177169	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:183177169G>T	ENST00000264144.4	+	2	298	c.233G>T	c.(232-234)aGg>aTg	p.R78M	LAMC2_ENST00000493293.1_Missense_Mutation_p.R78M	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	78	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CACAGAGAAAGGGACCGCTGT	0.507													10	509	---	---	---	---	0	0
SMG7	9887	broad.mit.edu	37	1	183514075	183514075	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:183514075C>A	ENST00000367537.3	+	17	2142	c.1947C>A	c.(1945-1947)ccC>ccA	p.P649P	SMG7_ENST00000347615.2_Silent_p.P666P|SMG7_ENST00000515829.2_Silent_p.P620P|SMG7_ENST00000508461.1_Silent_p.P624P|SMG7_ENST00000456731.2_Silent_p.P578P|SMG7_ENST00000507469.1_Silent_p.P620P			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	666	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GGTTTCCGCCCCCAACATATG	0.438													6	262	---	---	---	---	0	0
APOBEC4	403314	broad.mit.edu	37	1	183617132	183617132	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:183617132G>T	ENST00000308641.4	-	2	1056	c.785C>A	c.(784-786)cCc>cAc	p.P262H	RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	262					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						ATTGTTTAAGGGGTAGCTCTC	0.448													6	279	---	---	---	---	0	0
PRG4	10216	broad.mit.edu	37	1	186280621	186280621	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:186280621C>A	ENST00000445192.2	+	10	3731	c.3686C>A	c.(3685-3687)cCc>cAc	p.P1229H	PRG4_ENST00000367485.4_Missense_Mutation_p.P1136H|PRG4_ENST00000367486.3_Missense_Mutation_p.P1186H|PRG4_ENST00000367484.3_Missense_Mutation_p.P758H|PRG4_ENST00000367483.4_Missense_Mutation_p.P1188H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1229	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCAGGGTACCCCAAACCAATT	0.353													6	333	---	---	---	---	0	0
TPR	7175	broad.mit.edu	37	1	186289546	186289546	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:186289546G>A	ENST00000367478.4	-	46	6762	c.6466C>T	c.(6466-6468)Ccg>Tcg	p.P2156S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.P2156S(2)|p.P2143S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAACCTGCGGCGAACTAAAT	0.398			T	NTRK1	papillary thyroid								14	63	---	---	---	---	0	0
CRB1	23418	broad.mit.edu	37	1	197404276	197404276	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:197404276G>T	ENST00000367397.1	+	5	2284	c.1426G>T	c.(1426-1428)Ggg>Tgg	p.G476W	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G576W|CRB1_ENST00000367400.3_Missense_Mutation_p.G1095W|CRB1_ENST00000367399.2_Missense_Mutation_p.G983W|CRB1_ENST00000535699.1_Missense_Mutation_p.G1071W			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1095	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGGCCTGCAAGGGTGTCTAAG	0.368													6	213	---	---	---	---	0	0
KIF14	9928	broad.mit.edu	37	1	200587192	200587192	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:200587192G>T	ENST00000367350.4	-	2	1098	c.660C>A	c.(658-660)ccC>ccA	p.P220P		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	220	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GGGAAGCAATGGGTGGTCTAT	0.398													9	505	---	---	---	---	0	0
C1orf106	55765	broad.mit.edu	37	1	200880632	200880632	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:200880632C>A	ENST00000367342.4	+	9	1466	c.1266C>A	c.(1264-1266)ccC>ccA	p.P422P	C1orf106_ENST00000413687.2_Silent_p.P337P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	422										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCGCCTTTCCCCGCCGCCGCC	0.662													6	239	---	---	---	---	0	0
GPR37L1	9283	broad.mit.edu	37	1	202096908	202096908	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:202096908C>A	ENST00000367282.5	+	2	776	c.670C>A	c.(670-672)Ctg>Atg	p.L224M		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTCTGTGCCCTGGGCATTGA	0.587													4	102	---	---	---	---	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204380335	204380335	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:204380335G>T	ENST00000367188.4	-	1	584	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	69					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GCAAGGAGCTGGGAGAGCAGT	0.572													5	192	---	---	---	---	0	0
CD46	4179	broad.mit.edu	37	1	207959026	207959026	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:207959026G>T	ENST00000358170.2	+	12	1282	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	CD46_ENST00000367042.1_Splice_Site_p.G361C|CD46_ENST00000360212.2_Splice_Site_p.G332W|CD46_ENST00000480003.1_Splice_Site_p.G347W|CD46_ENST00000367047.1_Splice_Site_p.G313W|CD46_ENST00000367041.1_Splice_Site_p.G346C|CD46_ENST00000322918.5_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Splice_Site_p.G361W|CD46_ENST00000361067.1_Splice_Site_p.G362W|CD46_ENST00000441839.2_Intron|CD46_ENST00000322875.4_Splice_Site_p.G376W|CD46_ENST00000357714.1_Splice_Site_p.G346W	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	376					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GAAGAAGAAAGGGTAAATTAA	0.338													6	360	---	---	---	---	0	0
GPATCH2	55105	broad.mit.edu	37	1	217604600	217604600	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:217604600C>A	ENST00000366935.3	-	10	1584	c.1474G>T	c.(1474-1476)Ggg>Tgg	p.G492W		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	492	G-patch.					intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCAGAGATCCCCTTGCCATCT	0.493													7	349	---	---	---	---	0	0
BPNT1	10380	broad.mit.edu	37	1	220247316	220247316	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:220247316C>A	ENST00000469520.2	-	4	667	c.218G>T	c.(217-219)gGg>gTg	p.G73V	BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000322067.7_Missense_Mutation_p.G73V|BPNT1_ENST00000354807.3_Missense_Mutation_p.G73V|BPNT1_ENST00000544404.1_Missense_Mutation_p.G18V|BPNT1_ENST00000414869.2_Missense_Mutation_p.G73V			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	73					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TACCTCTTCCCCTATAATTGT	0.388													9	384	---	---	---	---	0	0
LBR	3930	broad.mit.edu	37	1	225607004	225607004	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:225607004G>T	ENST00000338179.2	-	5	726	c.601C>A	c.(601-603)Ccc>Acc	p.P201T	LBR_ENST00000272163.4_Missense_Mutation_p.P201T|LBR_ENST00000487054.1_5'UTR	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	201	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GCCCGGATGGGGGTCACTTCA	0.498													6	169	---	---	---	---	0	0
TRIM11	81559	broad.mit.edu	37	1	228582614	228582614	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:228582614G>T	ENST00000493030.2	-	5	4533	c.824C>A	c.(823-825)cCa>cAa	p.P275Q	TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000284551.6_Missense_Mutation_p.P400Q			Q96F44	TRI11_HUMAN	tripartite motif containing 11	400	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCGCCTGGGTGGGTCCCGGAG	0.597													4	83	---	---	---	---	0	0
CAPN9	10753	broad.mit.edu	37	1	230933908	230933908	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:230933908G>T	ENST00000354537.1	+	18	1992	c.1910G>T	c.(1909-1911)cGg>cTg	p.R637L	CAPN9_ENST00000271971.2_Splice_Site_p.R663L|CAPN9_ENST00000366666.2_Splice_Site_p.R600L|CAPN9_ENST00000480004.1_Intron	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	663	Domain IV.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.R663L(1)|p.R637L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CTCCTATCAGGGGTGTTCCAG	0.502											OREG0014318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	411	---	---	---	---	0	0
MLK4	0	broad.mit.edu	37	1	233489601	233489601	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:233489601G>T	ENST00000366624.3	+	3	1296	c.1035G>T	c.(1033-1035)cgG>cgT	p.R345R	MLK4_ENST00000366623.3_Silent_p.R345R	NM_032435.2	NP_115811.2																					TCCCCTATCGGGGCATTGATG	0.512													7	164	---	---	---	---	0	0
LYST	1130	broad.mit.edu	37	1	235950607	235950607	+	Silent	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:235950607A>G	ENST00000389794.3	-	14	4929	c.4755T>C	c.(4753-4755)aaT>aaC	p.N1585N	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.N1585N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1585					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGAGGAAAATATTCTCCTGTG	0.418													7	457	---	---	---	---	0	0
HEATR1	55127	broad.mit.edu	37	1	236746435	236746435	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:236746435C>A	ENST00000366582.3	-	18	2417	c.2303G>T	c.(2302-2304)tGg>tTg	p.W768L	HEATR1_ENST00000366581.2_Missense_Mutation_p.W768L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	768					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATAATGTGCCCACAGCTCCAC	0.413													7	441	---	---	---	---	0	0
MTR	4548	broad.mit.edu	37	1	237060398	237060398	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:237060398G>T	ENST00000366577.5	+	32	4085	c.3691G>T	c.(3691-3693)Ggg>Tgg	p.G1231W	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.G1180W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1231	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTTTGCTGTGGGGAAGATTTC	0.408													6	318	---	---	---	---	0	0
RYR2	6262	broad.mit.edu	37	1	237802315	237802315	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:237802315G>T	ENST00000366574.2	+	46	7246	c.6929G>T	c.(6928-6930)gGg>gTg	p.G2310V	RYR2_ENST00000542537.1_Splice_Site_p.G2294V|RYR2_ENST00000360064.6_Splice_Site_p.G2308V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2310	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTACTTTAGGGGAGAGTGTG	0.383													4	51	---	---	---	---	0	0
OR2G2	81470	broad.mit.edu	37	1	247751791	247751791	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:247751791G>T	ENST00000320065.1	+	1	130	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AACTATTTTGGGGAATACCAC	0.408													8	444	---	---	---	---	0	0
OR2M5	127059	broad.mit.edu	37	1	248308964	248308964	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:248308964G>T	ENST00000366476.1	+	1	515	c.515G>T	c.(514-516)cGg>cTg	p.R172L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTGGGTCTCGGGAAATAGCC	0.428													9	676	---	---	---	---	0	0
OR2T4	127074	broad.mit.edu	37	1	248525150	248525150	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:248525150C>A	ENST00000366475.1	+	1	268	c.268C>A	c.(268-270)Ccc>Acc	p.P90T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCCACACCCCCATGTACTT	0.478													8	501	---	---	---	---	0	0
CPSF3	51692	broad.mit.edu	37	2	9595849	9595849	+	Silent	SNP	C	C	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:9595849C>G	ENST00000460593.1	+	13	2593	c.1455C>G	c.(1453-1455)ccC>ccG	p.P485P	CPSF3_ENST00000238112.3_Silent_p.P522P			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	522					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	p.P522P(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATACTGGTCCCTTTAATTTGC	0.383													14	121	---	---	---	---	0	0
WDR35	57539	broad.mit.edu	37	2	20113344	20113344	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:20113344G>T	ENST00000345530.3	-	28	3636	c.3521C>A	c.(3520-3522)cCc>cAc	p.P1174H	WDR35_ENST00000281405.4_Missense_Mutation_p.P1163H|WDR35_ENST00000416055.2_3'UTR	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1174										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGCATAAGGGGCAGAAGCT	0.398													6	336	---	---	---	---	0	0
CGREF1	10669	broad.mit.edu	37	2	27324218	27324218	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:27324218C>A	ENST00000402394.1	-	6	1149	c.881G>T	c.(880-882)gGg>gTg	p.G294V	CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.G277V|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.G294V|CGREF1_ENST00000404694.3_Missense_Mutation_p.G416V|CGREF1_ENST00000312734.4_Missense_Mutation_p.G294V	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	277					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGTTTCCCCTGGAAGTTC	0.557													8	563	---	---	---	---	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27666311	27666311	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:27666311G>T	ENST00000543753.1	+	5	574	c.527G>T	c.(526-528)gGg>gTg	p.G176V	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.G176V|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.G158V	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	176						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					ATGTCTGCAGGGGAGGCTGCT	0.552													5	162	---	---	---	---	0	0
IFT172	26160	broad.mit.edu	37	2	27688721	27688721	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:27688721C>A	ENST00000260570.3	-	17	1824	c.1721G>T	c.(1720-1722)gGg>gTg	p.G574V		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	574					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGTCTTTCCCCCGCCCCGCTC	0.488													9	623	---	---	---	---	0	0
IFT172	26160	broad.mit.edu	37	2	27688726	27688726	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:27688726C>A	ENST00000260570.3	-	17	1819	c.1716G>T	c.(1714-1716)cgG>cgT	p.R572R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	572					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTCCCCCGCCCCGCTCCAGAC	0.488													11	602	---	---	---	---	0	0
SLC30A6	55676	broad.mit.edu	37	2	32418958	32418958	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:32418958G>T	ENST00000282587.5	+	8	439	c.402G>T	c.(400-402)acG>acT	p.T134T	SLC30A6_ENST00000379343.2_Splice_Site_p.T174T|SLC30A6_ENST00000406369.1_Splice_Site_p.T60T|SLC30A6_ENST00000435660.1_Splice_Site_p.T134T|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000538303.1_Splice_Site_p.T105T	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	134						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTTTTTAGGGGAAGATTAT	0.358													6	312	---	---	---	---	0	0
NLRC4	58484	broad.mit.edu	37	2	32474764	32474764	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:32474764G>T	ENST00000404025.2	-	5	2657	c.2169C>A	c.(2167-2169)ccC>ccA	p.P723P	NLRC4_ENST00000402280.1_Silent_p.P723P|NLRC4_ENST00000360906.5_Silent_p.P723P|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	723					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTATGGTGAGGGGACTGGCTT	0.458													6	358	---	---	---	---	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873715	37873715	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:37873715G>T	ENST00000295324.3	-	2	1016	c.16C>A	c.(16-18)Cca>Aca	p.P6T	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	6					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				AGGTAAATTGGGGTCTTGGCT	0.418													7	376	---	---	---	---	0	0
ATL2	64225	broad.mit.edu	37	2	38536592	38536592	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:38536592G>T	ENST00000378954.4	-	9	1001	c.1000C>A	c.(1000-1002)Cct>Act	p.P334T	ATL2_ENST00000332337.4_Missense_Mutation_p.P316T|ATL2_ENST00000406122.1_Missense_Mutation_p.P163T|ATL2_ENST00000402054.1_Missense_Mutation_p.P163T|ATL2_ENST00000546051.1_Missense_Mutation_p.P163T|ATL2_ENST00000419554.2_Missense_Mutation_p.P334T|ATL2_ENST00000539122.1_Missense_Mutation_p.P163T|ATL2_ENST00000452935.2_Missense_Mutation_p.P316T	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	334					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AAATTTTCAGGGGCAAGCAGC	0.328													6	185	---	---	---	---	0	0
ABCG8	64241	broad.mit.edu	37	2	44100976	44100976	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:44100976G>T	ENST00000272286.2	+	9	1352	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	421	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCATCCATGGGGCGGAGGCC	0.537													7	463	---	---	---	---	0	0
MSH6	2956	broad.mit.edu	37	2	48018072	48018072	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:48018072C>A	ENST00000234420.5	+	2	419	c.267C>A	c.(265-267)gaC>gaA	p.D89E	MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Intron|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.D89E(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGTTGTGACTTCTCACCAG	0.433			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	201	---	---	---	---	0	0
MSH6	2956	broad.mit.edu	37	2	48026149	48026149	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:48026149C>A	ENST00000234420.5	+	4	1179	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	MSH6_ENST00000538136.1_Missense_Mutation_p.P41T|MSH6_ENST00000540021.1_Missense_Mutation_p.P213T|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTCTCTGCCCCTCAAAATTC	0.443			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	260	---	---	---	---	0	0
MSH6	2956	broad.mit.edu	37	2	48027463	48027463	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:48027463C>A	ENST00000234420.5	+	4	2493	c.2341C>A	c.(2341-2343)Cca>Aca	p.P781T	MSH6_ENST00000538136.1_Missense_Mutation_p.P479T|MSH6_ENST00000540021.1_Missense_Mutation_p.P651T|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.P781T(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTTGTGCCCCACTCTGTAA	0.433			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	428	---	---	---	---	0	0
REL	5966	broad.mit.edu	37	2	61118892	61118892	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:61118892G>T	ENST00000295025.8	+	2	405	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W	REL_ENST00000394479.3_Missense_Mutation_p.G29W	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog		RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CAAATGTGAAGGGCGATCAGC	0.453			A		Hodgkin Lymphoma								5	211	---	---	---	---	0	0
REL	5966	broad.mit.edu	37	2	61148946	61148946	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:61148946G>T	ENST00000295025.8	+	11	1456	c.1136G>T	c.(1135-1137)gGg>gTg	p.G379V	REL_ENST00000394479.3_Missense_Mutation_p.G347V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ATGCCTACAGGGGTTTCAAGT	0.408			A		Hodgkin Lymphoma								6	228	---	---	---	---	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449806	62449806	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:62449806C>A	ENST00000301998.4	+	2	703	c.451C>A	c.(451-453)Ctc>Atc	p.L151I	B3GNT2_ENST00000405767.1_Missense_Mutation_p.L151I	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	151						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GATTAAGTCCCTCACTCCACA	0.498													6	228	---	---	---	---	0	0
PROKR1	10887	broad.mit.edu	37	2	68882252	68882252	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:68882252G>T	ENST00000303786.3	+	3	1146	c.726G>T	c.(724-726)gtG>gtT	p.V242V	PROKR1_ENST00000394342.2_Silent_p.V242V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	242						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.V242V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGAATTCGTGGGCCCCGTGG	0.557													32	86	---	---	---	---	0	0
GFPT1	2673	broad.mit.edu	37	2	69554133	69554133	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:69554133G>T	ENST00000357308.4	-	19	2146	c.1968C>A	c.(1966-1968)ccC>ccA	p.P656P	GFPT1_ENST00000361060.5_Silent_p.P638P	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	656	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CCACTGAGTGGGGCACCTTGA	0.473													5	171	---	---	---	---	0	0
SNRNP27	11017	broad.mit.edu	37	2	70122252	70122252	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:70122252C>A	ENST00000244227.3	+	2	486	c.61C>A	c.(61-63)Cgg>Agg	p.R21R	SNRNP27_ENST00000409116.1_Silent_p.R21R	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	21	Arg-rich.				mRNA processing|RNA splicing	nucleus	nucleic acid binding	p.R21W(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GTCCACATCCCGGGAGAGAGA	0.562													6	273	---	---	---	---	0	0
SNRPG	6637	broad.mit.edu	37	2	70515272	70515272	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:70515272G>T	ENST00000482975.2	-	3	839	c.72C>A	c.(70-72)ccC>ccA	p.P24P	SNRPG_ENST00000413456.2_Silent_p.P28P|SNRPG_ENST00000449935.2_Silent_p.P24P|SNRPG_ENST00000454893.1_Silent_p.P36P|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000438261.1_Silent_p.P24P|SNRPG_ENST00000272348.2_Silent_p.P36P			P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	36					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			endometrium(1)	1						GGTTCATAAAGGGATCAAATC	0.368													5	172	---	---	---	---	0	0
MOGS	7841	broad.mit.edu	37	2	74690103	74690103	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:74690103G>T	ENST00000409065.1	-	4	760	c.623C>A	c.(622-624)cCc>cAc	p.P208H	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000233616.4_Silent_p.P271P|MOGS_ENST00000452063.2_Silent_p.P165P|MOGS_ENST00000535045.1_3'UTR			Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	0					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTGTCAGCAGGGGCAGTCCTG	0.517													9	323	---	---	---	---	0	0
SEMA4C	54910	broad.mit.edu	37	2	97530119	97530119	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:97530119C>A	ENST00000305476.5	-	10	1095	c.963G>T	c.(961-963)tgG>tgT	p.W321C		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	321	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						ACATGTCACCCCTGTCACAGC	0.582													5	172	---	---	---	---	0	0
SEMA4C	54910	broad.mit.edu	37	2	97531227	97531227	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:97531227C>A	ENST00000305476.5	-	6	600	c.468G>T	c.(466-468)aaG>aaT	p.K156N		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	156	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GACACTTGCCCTTCCCATCTT	0.567													6	96	---	---	---	---	0	0
SLC9A4	389015	broad.mit.edu	37	2	103141515	103141515	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:103141515C>A	ENST00000295269.4	+	10	2308	c.1851C>A	c.(1849-1851)ccC>ccA	p.P617P		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	617					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCTCAAACCCCAAACAAGTG	0.498													7	447	---	---	---	---	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148815	103148815	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:103148815C>A	ENST00000295269.4	+	12	2522	c.2065C>A	c.(2065-2067)Cca>Aca	p.P689T		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	689					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCAGGATCCCCATCCATCAC	0.458													6	199	---	---	---	---	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998896	108998896	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:108998896C>A	ENST00000272452.2	+	3	677	c.351C>A	c.(349-351)ccC>ccA	p.P117P	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	117					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	p.P117P(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CACATCTTCCCTTTCACTTGC	0.388													7	473	---	---	---	---	0	0
DDX18	8886	broad.mit.edu	37	2	118577355	118577355	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:118577355C>A	ENST00000263239.2	+	3	629	c.501C>A	c.(499-501)ccC>ccA	p.P167P	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	167							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCAGTCTGCCCCTGGGACTGA	0.423													4	80	---	---	---	---	0	0
GPR17	0	broad.mit.edu	37	2	128408804	128408804	+	Silent	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:128408804G>A	ENST00000544369.1	+	4	1190	c.579G>A	c.(577-579)ccG>ccA	p.P193P	LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Silent_p.P193P|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Silent_p.P193P|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	193						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.P193P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCATGGCCCCGCTGCTGGTGA	0.667													45	106	---	---	---	---	0	0
WDR33	55339	broad.mit.edu	37	2	128467377	128467377	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:128467377C>A	ENST00000322313.4	-	19	3520	c.3362G>T	c.(3361-3363)aGg>aTg	p.R1121M		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1121					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAAACCATCCCTTCCTCTGGG	0.557													6	380	---	---	---	---	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541067	133541067	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:133541067C>A	ENST00000409261.1	-	14	3690	c.3317G>T	c.(3316-3318)gGg>gTg	p.G1106V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1106V|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1106	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCATTTACCCCTAAGAAGGA	0.498													8	465	---	---	---	---	0	0
ZRANB3	84083	broad.mit.edu	37	2	136026567	136026567	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:136026567G>T	ENST00000401392.1	-	11	1563	c.1351C>A	c.(1351-1353)Cta>Ata	p.L451I	ZRANB3_ENST00000536680.1_Missense_Mutation_p.L451I|ZRANB3_ENST00000264159.6_Missense_Mutation_p.L451I			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	451	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGGGTGTCTAGGGTTCCATTT	0.408													6	378	---	---	---	---	0	0
SPOPL	339745	broad.mit.edu	37	2	139322356	139322356	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:139322356C>A	ENST00000280098.4	+	9	1295	c.916C>A	c.(916-918)Ctt>Att	p.L306I		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	306						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TGCAGATACCCTTGTCCTTGC	0.413													7	377	---	---	---	---	0	0
SCN1A	6323	broad.mit.edu	37	2	166929887	166929887	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:166929887G>T	ENST00000423058.2	-	1	262	c.245C>A	c.(244-246)cCc>cAc	p.P82H	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P82H|SCN1A_ENST00000375405.3_Missense_Mutation_p.P82H|SCN1A_ENST00000303395.4_Missense_Mutation_p.P82H|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	82						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GATATAGTAGGGGTCCAGGTC	0.438													6	295	---	---	---	---	0	0
SCN9A	6335	broad.mit.edu	37	2	167142854	167142854	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:167142854G>T	ENST00000375387.4	-	11	1937	c.1597C>A	c.(1597-1599)Ccc>Acc	p.P533T	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.P532T|SCN9A_ENST00000303354.6_Missense_Mutation_p.P533T|SCN9A_ENST00000409672.1_Missense_Mutation_p.P532T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	532						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACCTGATTGGGGGTAGACAAC	0.443													8	547	---	---	---	---	0	0
XIRP2	129446	broad.mit.edu	37	2	168099319	168099319	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:168099319C>A	ENST00000409195.1	+	9	1506	c.1417C>A	c.(1417-1419)Cct>Act	p.P473T	XIRP2_ENST00000295237.9_Missense_Mutation_p.P473T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P251T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	298					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCCCAGTCCCCTGAACTGCC	0.408													7	180	---	---	---	---	0	0
ABCB11	8647	broad.mit.edu	37	2	169847386	169847386	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:169847386C>A	ENST00000263817.6	-	9	957	c.833G>T	c.(832-834)gGg>gTg	p.G278V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	278	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGCCACCACCCCTGCTTTGGC	0.398													7	349	---	---	---	---	0	0
MYO3B	140469	broad.mit.edu	37	2	171260843	171260843	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:171260843C>A	ENST00000334231.6	+	20	2391	c.2391C>A	c.(2389-2391)ccC>ccA	p.P797P	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.P788P|MYO3B_ENST00000408978.4_Silent_p.P788P			Q8WXR4	MYO3B_HUMAN	myosin IIIB	788	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCCAGAAACCCCTGGGACTGC	0.493													5	172	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179395544	179395544	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:179395544G>T	ENST00000589042.1	-	358	106022	c.105798C>A	c.(105796-105798)ccC>ccA	p.P35266P	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.P32698P|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.P26326P|TTN_ENST00000460472.2_Silent_p.P26201P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Silent_p.P26393P|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000591111.1_Silent_p.P33625P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33625							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCTCTGTGGGTGATACGG	0.488													4	110	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179413235	179413235	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:179413235G>T	ENST00000589042.1	-	339	93342	c.93118C>A	c.(93118-93120)Cct>Act	p.P31040T	TTN_ENST00000342992.6_Missense_Mutation_p.P28472T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P22100T|TTN_ENST00000460472.2_Missense_Mutation_p.P21975T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P22167T|TTN_ENST00000591111.1_Missense_Mutation_p.P29399T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29399	Fibronectin type-III 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAGAAGAGGGGCATCCCAC	0.507													7	386	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179545040	179545040	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:179545040C>A	ENST00000589042.1	-	139	33583	c.33359G>T	c.(33358-33360)aGg>aTg	p.R11120M	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9876M|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R10803M|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10803	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCGACAACCCTCTTGGGCTT	0.403													8	432	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179640649	179640649	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:179640649C>A	ENST00000589042.1	-	28	6166	c.5942G>T	c.(5941-5943)aGg>aTg	p.R1981M	TTN_ENST00000342992.6_Missense_Mutation_p.R1981M|TTN_ENST00000360870.5_Missense_Mutation_p.R1981M|TTN_ENST00000359218.5_Missense_Mutation_p.R1935M|TTN_ENST00000460472.2_Missense_Mutation_p.R1935M|TTN_ENST00000342175.6_Missense_Mutation_p.R1935M|TTN_ENST00000591111.1_Missense_Mutation_p.R1981M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1716							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTCAGCCCTTTTCAACTT	0.428													8	492	---	---	---	---	0	0
SSFA2	6744	broad.mit.edu	37	2	182780991	182780991	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:182780991G>T	ENST00000431877.2	+	11	2803	c.2624G>T	c.(2623-2625)gGg>gTg	p.G875V	SSFA2_ENST00000409001.1_Missense_Mutation_p.G875V|SSFA2_ENST00000320370.7_Missense_Mutation_p.G875V|SSFA2_ENST00000428267.2_Missense_Mutation_p.G722V|SSFA2_ENST00000409136.1_Missense_Mutation_p.G384V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	875						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AACATATCAGGGGCTACTTGT	0.522													5	181	---	---	---	---	0	0
DNAJC10	54431	broad.mit.edu	37	2	183593382	183593382	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:183593382C>A	ENST00000264065.7	+	6	913	c.498C>A	c.(496-498)ccC>ccA	p.P166P	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Silent_p.P166P	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10		Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATTTAGCTCCCACAGTATGTA	0.299													6	238	---	---	---	---	0	0
COL3A1	1281	broad.mit.edu	37	2	189863408	189863408	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:189863408G>T	ENST00000304636.3	+	29	2156	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	COL3A1_ENST00000317840.5_Missense_Mutation_p.K662N	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	662	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGGTCCAAAGGGTGATGCCG	0.368													4	88	---	---	---	---	0	0
HECW2	57520	broad.mit.edu	37	2	197184291	197184291	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:197184291C>A	ENST00000260983.3	-	9	1505	c.1323G>T	c.(1321-1323)atG>atT	p.M441I	HECW2_ENST00000409111.1_Missense_Mutation_p.M85I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAGAGGCACCCATGGACCTCT	0.502													4	94	---	---	---	---	0	0
FAM126B	285172	broad.mit.edu	37	2	201846109	201846109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:201846109G>A	ENST00000418596.3	-	12	1664	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular		p.Q493*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CGGTCTTCCTGCAGACTGACA	0.512													33	60	---	---	---	---	0	0
NRP2	8828	broad.mit.edu	37	2	206562332	206562332	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:206562332C>A	ENST00000360409.3	+	2	929	c.138C>A	c.(136-138)ccC>ccA	p.P46P	NRP2_ENST00000272849.3_Silent_p.P46P|NRP2_ENST00000355117.4_Silent_p.P46P|NRP2_ENST00000357118.4_Silent_p.P46P|NRP2_ENST00000417189.1_Silent_p.P46P|NRP2_ENST00000357785.5_Silent_p.P46P|NRP2_ENST00000412873.2_Silent_p.P46P|NRP2_ENST00000540178.1_Silent_p.P46P|NRP2_ENST00000540841.1_Silent_p.P46P	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	46	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCGGTTACCCCCAGGACTACC	0.502													10	611	---	---	---	---	0	0
MDH1B	130752	broad.mit.edu	37	2	207615682	207615682	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:207615682G>T	ENST00000374412.3	-	6	1303	c.1028C>A	c.(1027-1029)cCt>cAt	p.P343H	MDH1B_ENST00000449792.1_Missense_Mutation_p.P245H|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.P343H	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	343					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTTTAAAACAGGGCGTGAATA	0.328													5	169	---	---	---	---	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209192967	209192967	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:209192967C>A	ENST00000264380.4	+	21	3840	c.3682C>A	c.(3682-3684)Cag>Aag	p.Q1228K		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1228					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTCTTCTGCCCAGTCCAGCAA	0.438													5	285	---	---	---	---	0	0
MAP2	4133	broad.mit.edu	37	2	210518007	210518007	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:210518007G>T	ENST00000360351.4	+	4	619	c.113G>T	c.(112-114)gGg>gTg	p.G38V	MAP2_ENST00000361559.4_Missense_Mutation_p.G38V|MAP2_ENST00000199940.6_Missense_Mutation_p.G38V|MAP2_ENST00000392194.1_Missense_Mutation_p.G38V|MAP2_ENST00000447185.1_Missense_Mutation_p.G38V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	38					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.G38V(3)|p.G38E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGCGGAGCAGGGGAAGGACTT	0.532													4	81	---	---	---	---	0	0
RPE	6120	broad.mit.edu	37	2	210881324	210881324	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:210881324G>T	ENST00000359429.6	+	4	533	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	RPE_ENST00000429907.1_Missense_Mutation_p.G78W|RPE_ENST00000452025.1_Missense_Mutation_p.G146W|RPE_ENST00000454822.1_Missense_Mutation_p.G96W|RPE_ENST00000438204.2_Missense_Mutation_p.G78W|RPE_ENST00000411934.2_Missense_Mutation_p.G78W|RPE_ENST00000445268.1_Missense_Mutation_p.G78W|RPE_ENST00000429921.1_Missense_Mutation_p.G96W|RPE_ENST00000435437.2_Missense_Mutation_p.G146W|RPE_ENST00000540255.1_Missense_Mutation_p.G146W|RPE_ENST00000354506.6_Missense_Mutation_p.G138W|RPE_ENST00000436630.2_Missense_Mutation_p.G96W	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	146	Substrate binding.				pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AGTGGAACCGGGGTTTGGAGG	0.438													6	278	---	---	---	---	0	0
PECR	55825	broad.mit.edu	37	2	216914052	216914052	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:216914052C>A	ENST00000265322.7	-	6	722	c.648G>T	c.(646-648)tgG>tgT	p.W216C	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	216					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	AGCTTTGTCCCCAGGAACCAT	0.358													6	318	---	---	---	---	0	0
ZNF142	7701	broad.mit.edu	37	2	219508775	219508775	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:219508775C>A	ENST00000411696.2	-	7	3243	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W	ZNF142_ENST00000449707.1_Missense_Mutation_p.G822W			P52746	ZN142_HUMAN	zinc finger protein 142	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCACCCGCCCCTCTAGCACC	0.577													7	300	---	---	---	---	0	0
ZNF142	7701	broad.mit.edu	37	2	219508853	219508853	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:219508853G>T	ENST00000411696.2	-	7	3165	c.2386C>A	c.(2386-2388)Cca>Aca	p.P796T	ZNF142_ENST00000449707.1_Missense_Mutation_p.P796T			P52746	ZN142_HUMAN	zinc finger protein 142	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGTAATGGGGGCAAGGGT	0.532													7	310	---	---	---	---	0	0
TTLL4	9654	broad.mit.edu	37	2	219617870	219617870	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:219617870G>T	ENST00000392102.1	+	18	3560	c.3220G>T	c.(3220-3222)Ggg>Tgg	p.G1074W	TTLL4_ENST00000258398.4_Missense_Mutation_p.G1074W|TTLL4_ENST00000457313.1_Missense_Mutation_p.G909W|TTLL4_ENST00000442769.1_Missense_Mutation_p.G1010W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1074					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GTGCTACAAAGGGTTCCACAT	0.517													8	556	---	---	---	---	0	0
FAM134A	79137	broad.mit.edu	37	2	220047109	220047109	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:220047109C>A	ENST00000430297.2	+	9	1526	c.1390C>A	c.(1390-1392)Cct>Act	p.P464T		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	464						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCCCTCCCCTTCCATTCT	0.617													6	138	---	---	---	---	0	0
EPHA4	2043	broad.mit.edu	37	2	222428928	222428928	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:222428928C>A	ENST00000281821.2	-	3	387	c.346G>T	c.(346-348)Ggg>Tgg	p.G116W	EPHA4_ENST00000409938.1_Missense_Mutation_p.G116W|EPHA4_ENST00000392071.4_Missense_Mutation_p.G65W|EPHA4_ENST00000409854.1_Missense_Mutation_p.G116W	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	116						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGCAAGTCCCCATGACGCCC	0.463													6	358	---	---	---	---	0	0
MFF	56947	broad.mit.edu	37	2	228197205	228197205	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:228197205C>A	ENST00000524634.1	+	0	228				MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000353339.3_Silent_p.P110P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000409616.1_Silent_p.P84P			Q9GZY8	MFF_HUMAN	mitochondrial fission factor							integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CCTTTAAACCCCTGGCACTGA	0.398													12	844	---	---	---	---	0	0
GIGYF2	26058	broad.mit.edu	37	2	233671322	233671322	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:233671322G>T	ENST00000373566.3	+	16	2024	c.1827G>T	c.(1825-1827)tgG>tgT	p.W609C	GIGYF2_ENST00000409451.3_Missense_Mutation_p.W608C|GIGYF2_ENST00000452341.2_Missense_Mutation_p.W418C|GIGYF2_ENST00000409196.3_Missense_Mutation_p.W581C|GIGYF2_ENST00000409480.1_Missense_Mutation_p.W609C|GIGYF2_ENST00000409547.1_Missense_Mutation_p.W587C|GIGYF2_ENST00000373563.4_Missense_Mutation_p.W587C			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	587	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGAAAATGTGGGGAAGGGTTC	0.458													6	352	---	---	---	---	0	0
UGT1A1	0	broad.mit.edu	37	2	234526904	234526904	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:234526904C>A	ENST00000373450.4	+	1	614	c.551C>A	c.(550-552)cCt>cAt	p.P184H		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCACAGTGCCCTGCTCCTCTT	0.493													7	425	---	---	---	---	0	0
UGT1A3	0	broad.mit.edu	37	2	234638401	234638401	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:234638401G>T	ENST00000482026.1	+	1	648	c.629G>T	c.(628-630)aGg>aTg	p.R210M	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R210M|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron																breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTCATGCAAAGGGTCAAGAAC	0.453													8	439	---	---	---	---	0	0
COL6A3	1293	broad.mit.edu	37	2	238274414	238274414	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:238274414G>T	ENST00000295550.4	-	12	6217	c.5765C>A	c.(5764-5766)cCc>cAc	p.P1922H	COL6A3_ENST00000346358.4_Missense_Mutation_p.P1722H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1716H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1721H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1315H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1716H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1922	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGGACGTAGGGGTGCTGGCT	0.612													6	126	---	---	---	---	0	0
COL6A3	1293	broad.mit.edu	37	2	238275770	238275770	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:238275770G>T	ENST00000295550.4	-	11	5512	c.5060C>A	c.(5059-5061)cCc>cAc	p.P1687H	COL6A3_ENST00000346358.4_Missense_Mutation_p.P1487H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1481H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1486H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1080H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1481H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1687	Nonhelical region.|VWFA 9.		P -> S (in dbSNP:rs35273032).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCGTCAGTGGGGTCAGAGTT	0.473													4	65	---	---	---	---	0	0
RAB17	64284	broad.mit.edu	37	2	238494758	238494758	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:238494758G>T	ENST00000264601.3	-	2	669	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Intron|RAB17_ENST00000538644.1_5'UTR|RAB17_ENST00000416106.1_5'UTR	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	14					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GGCTGGCTGGGGGCAGCCCTG	0.582													4	82	---	---	---	---	0	0
MTERFD2	130916	broad.mit.edu	37	2	242035730	242035730	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:242035730G>T	ENST00000391980.2	-	4	887	c.829C>A	c.(829-831)Cct>Act	p.P277T	MTERFD2_ENST00000406593.1_Missense_Mutation_p.P89T|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	277										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TTCTTATCAGGGGTTTGGTAC	0.468													6	319	---	---	---	---	0	0
CHL1	10752	broad.mit.edu	37	3	367694	367694	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:367694C>A	ENST00000256509.2	+	4	786	c.144C>A	c.(142-144)ccC>ccA	p.P48P	CHL1_ENST00000397491.2_Silent_p.P48P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	48	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGCCTTTCCCTTCGATGAGT	0.348													5	140	---	---	---	---	0	0
CNTN6	27255	broad.mit.edu	37	3	1424996	1424996	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:1424996G>T	ENST00000446702.2	+	19	3048	c.2421G>T	c.(2419-2421)agG>agT	p.R807S	CNTN6_ENST00000350110.2_Missense_Mutation_p.R807S|CNTN6_ENST00000539053.1_Missense_Mutation_p.R735S			Q9UQ52	CNTN6_HUMAN	contactin 6	807	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGCCCCAAGGGGAACTTCTC	0.438													8	448	---	---	---	---	0	0
SLC6A11	6538	broad.mit.edu	37	3	10976836	10976836	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:10976836C>A	ENST00000254488.2	+	13	1763	c.1697C>A	c.(1696-1698)cCg>cAg	p.P566Q		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	566					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P566Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTCTGCATCCCGCTCTGGATC	0.602													6	192	---	---	---	---	0	0
HDAC11	79885	broad.mit.edu	37	3	13538270	13538270	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:13538270C>A	ENST00000295757.3	+	4	470	c.287C>A	c.(286-288)cCc>cAc	p.P96H	HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000437379.2_Missense_Mutation_p.P68H|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000433119.1_Missense_Mutation_p.P68H|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000522202.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	96	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						ACAGAAATCCCCCCCGTTATC	0.587											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	88	---	---	---	---	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15131941	15131941	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:15131941C>A	ENST00000253699.3	-	5	867	c.254G>T	c.(253-255)gGg>gTg	p.G85V	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.G85V|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.G85V|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	85					blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AGGATCAACCCCTCCATAGCT	0.443													6	201	---	---	---	---	0	0
RFTN1	23180	broad.mit.edu	37	3	16358387	16358387	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:16358387C>A	ENST00000334133.4	-	10	1957	c.1685G>T	c.(1684-1686)aGg>aTg	p.R562M	OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.R526M|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	562						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATCCCCGTCCCTGGCATCCTC	0.567													7	388	---	---	---	---	0	0
OXSM	54995	broad.mit.edu	37	3	25833460	25833460	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:25833460C>A	ENST00000280701.3	+	2	1048	c.949C>A	c.(949-951)Cct>Act	p.P317T	OXSM_ENST00000420173.2_Missense_Mutation_p.P234T	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	317					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CATAACTGCCCCTGATCCTGA	0.428													6	205	---	---	---	---	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436109	27436109	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:27436109C>A	ENST00000295736.5	-	20	3060	c.2990G>T	c.(2989-2991)gGg>gTg	p.G997V	SLC4A7_ENST00000437179.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G882V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G547V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G873V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G1006V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G989V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	997						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GGGTTGTTCCCCTGGAGCAGA	0.433													5	166	---	---	---	---	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710260	31710260	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:31710260C>A	ENST00000396556.2	-	10	2092	c.1970G>T	c.(1969-1971)gGg>gTg	p.G657V	OSBPL10_ENST00000438237.2_Missense_Mutation_p.G593V	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	657					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ATTCCATTCCCCATGGGCTTT	0.418													8	345	---	---	---	---	0	0
GOLGA4	2803	broad.mit.edu	37	3	37388772	37388772	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:37388772G>T	ENST00000361924.2	+	21	6935	c.6561G>T	c.(6559-6561)atG>atT	p.M2187I	GOLGA4_ENST00000356847.4_Missense_Mutation_p.M2202I|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2187	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTATATGATGGGTCGTGAGA	0.363													5	168	---	---	---	---	0	0
DLEC1	9940	broad.mit.edu	37	3	38138188	38138188	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:38138188G>T	ENST00000308059.6	+	15	2321	c.2300G>T	c.(2299-2301)gGg>gTg	p.G767V	DLEC1_ENST00000346219.3_Missense_Mutation_p.G767V|DLEC1_ENST00000452631.2_Missense_Mutation_p.G767V			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	767					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATCATCCCAGGGGAGAACTAC	0.488													6	319	---	---	---	---	0	0
ACAA1	30	broad.mit.edu	37	3	38167373	38167373	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:38167373C>A	ENST00000333167.8	-	10	1170		c.e10-1		ACAA1_ENST00000480865.1_Splice_Site|ACAA1_ENST00000301810.7_Splice_Site|ACAA1_ENST00000450296.1_Splice_Site	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		ACTGTCAGCCCTGCAGACAAG	0.582													4	142	---	---	---	---	0	0
XIRP1	165904	broad.mit.edu	37	3	39227674	39227674	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:39227674G>T	ENST00000340369.3	-	2	3491	c.3263C>A	c.(3262-3264)cCc>cAc	p.P1088H	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P1088H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1088							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCCTGGATGGGGTTGGAAGT	0.597													5	133	---	---	---	---	0	0
ENTPD3	956	broad.mit.edu	37	3	40456250	40456250	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:40456250G>T	ENST00000301825.3	+	6	634	c.516G>T	c.(514-516)agG>agT	p.R172S	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.R172S|ENTPD3_ENST00000456402.1_Missense_Mutation_p.R172S	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	172						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TTGACTTTAGGGGTGCTCAAA	0.428													6	344	---	---	---	---	0	0
CTNNB1	1499	broad.mit.edu	37	3	41275023	41275023	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:41275023G>T	ENST00000349496.5	+	9	1469	c.1189G>T	c.(1189-1191)Ggg>Tgg	p.G397W	CTNNB1_ENST00000396183.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G397W|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G390W	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	397					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCCATAGGAAGGGATGGAAGG	0.428		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				6	329	---	---	---	---	0	0
ZNF197	10168	broad.mit.edu	37	3	44673623	44673623	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:44673623C>A	ENST00000396058.1	+	3	744	c.577C>A	c.(577-579)Ctt>Att	p.L193I	ZNF197_ENST00000383745.2_Missense_Mutation_p.L193I|ZNF197_ENST00000383744.4_Missense_Mutation_p.L193I|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.L193I			O14709	ZN197_HUMAN	zinc finger protein 197	193					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGCTTCTGCCCTTTCCCAGGA	0.498													7	475	---	---	---	---	0	0
LTF	4057	broad.mit.edu	37	3	46492139	46492139	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:46492139C>A	ENST00000231751.4	-	7	1023	c.728G>T	c.(727-729)aGg>aTg	p.R243M	LTF_ENST00000426532.2_Missense_Mutation_p.R199M|LTF_ENST00000417439.1_Missense_Mutation_p.R243M	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	243	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ATACTCGTCCCTTTCAGCCTC	0.557													6	168	---	---	---	---	0	0
RTP3	83597	broad.mit.edu	37	3	46542219	46542219	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:46542219C>A	ENST00000296142.3	+	2	1101	c.529C>A	c.(529-531)Cca>Aca	p.P177T		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	177					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ATCTCAGACCCCAAGAGTACA	0.522													5	152	---	---	---	---	0	0
MAP4	4134	broad.mit.edu	37	3	47951275	47951275	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:47951275C>A	ENST00000426837.2	-	10	4774	c.4687G>T	c.(4687-4689)Ggg>Tgg	p.G1563W	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.G153W|MAP4_ENST00000360240.6_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	933					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		ATCACATGCCCTTCATCGATC	0.438													5	206	---	---	---	---	0	0
ATRIP	84126	broad.mit.edu	37	3	48506045	48506045	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:48506045G>T	ENST00000412052.1	+	11	2222	c.1760G>T	c.(1759-1761)tGc>tTc	p.C587F	ATRIP_ENST00000357105.6_Missense_Mutation_p.C553F|ATRIP_ENST00000320211.3_Missense_Mutation_p.C680F|ATRIP_ENST00000346691.4_Intron	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	680					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	p.C680F(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTCCAACTGCCAGTGTAAT	0.607								Other conserved DNA damage response genes					5	158	---	---	---	---	0	0
TREX1	11277	broad.mit.edu	37	3	48508890	48508890	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:48508890C>A	ENST00000296443.9	+	3	1723	c.836C>A	c.(835-837)cCt>cAt	p.P279H	TREX1_ENST00000456089.1_Missense_Mutation_p.P140H|TREX1_ENST00000422277.2_Missense_Mutation_p.P334H|TREX1_ENST00000436480.2_Missense_Mutation_p.P279H|TREX1_ENST00000444177.1_Missense_Mutation_p.P269H|TREX1_ENST00000433541.1_Missense_Mutation_p.P140H			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	334					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGAAGGACCCTGGAGCCCTA	0.602													5	112	---	---	---	---	0	0
CCDC71	64925	broad.mit.edu	37	3	49201177	49201177	+	Silent	SNP	C	C	A	rs142878485		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:49201177C>A	ENST00000321895.6	-	2	571	c.465G>T	c.(463-465)cgG>cgT	p.R155R		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	155										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGCTGCACCCCGGGCATGGC	0.592													4	72	---	---	---	---	0	0
BSN	8927	broad.mit.edu	37	3	49692404	49692404	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:49692404C>A	ENST00000296452.4	+	5	5529	c.5415C>A	c.(5413-5415)ccC>ccA	p.P1805P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1805					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATAACCTACCCAACCAAGTAG	0.592													6	198	---	---	---	---	0	0
ALAS1	211	broad.mit.edu	37	3	52240720	52240720	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52240720C>A	ENST00000394965.2	+	8	1478	c.1118C>A	c.(1117-1119)cCc>cAc	p.P373H	ALAS1_ENST00000484952.1_Missense_Mutation_p.P373H|ALAS1_ENST00000310271.2_Missense_Mutation_p.P373H|ALAS1_ENST00000469224.1_Missense_Mutation_p.P373H	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	373					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGATCTGACCCCTCAGTCCCC	0.473													6	200	---	---	---	---	0	0
WDR82	80335	broad.mit.edu	37	3	52293888	52293888	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52293888C>A	ENST00000296490.3	-	6	825	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	182					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		GCAAATGGCCCCTGCAAAAGA	0.403													6	224	---	---	---	---	0	0
STAB1	23166	broad.mit.edu	37	3	52547910	52547910	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52547910C>A	ENST00000321725.6	+	32	3436	c.3360C>A	c.(3358-3360)ccC>ccA	p.P1120P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1120					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTTACTGCCCCCCCGAGGGG	0.622													9	354	---	---	---	---	0	0
STAB1	23166	broad.mit.edu	37	3	52557149	52557149	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52557149G>T	ENST00000321725.6	+	63	7095	c.7019G>T	c.(7018-7020)gGg>gTg	p.G2340V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2340	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACCTTCTATGGGGTGTGTGGG	0.622													5	91	---	---	---	---	0	0
ACTR8	93973	broad.mit.edu	37	3	53905310	53905310	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:53905310C>A	ENST00000335754.3	-	11	1616	c.1516G>T	c.(1516-1518)Gga>Tga	p.G506*	ACTR8_ENST00000231909.7_Nonsense_Mutation_p.G211*|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.G395*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	506					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	p.G506*(1)|p.G211*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AGGGCTTTTCCTTCAAACAGC	0.547													6	234	---	---	---	---	0	0
ACTR8	93973	broad.mit.edu	37	3	53912392	53912392	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:53912392G>T	ENST00000335754.3	-	3	497	c.397C>A	c.(397-399)Cct>Act	p.P133T	ACTR8_ENST00000482349.1_Missense_Mutation_p.P22T	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	133					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ACCTGTTCAGGGGACACAGGA	0.363													7	425	---	---	---	---	0	0
SLMAP	7871	broad.mit.edu	37	3	57882650	57882650	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:57882650C>A	ENST00000383718.3	+	15	1527	c.1429C>A	c.(1429-1431)Ctt>Att	p.L477I	SLMAP_ENST00000442599.2_Missense_Mutation_p.L15I|SLMAP_ENST00000494088.1_Missense_Mutation_p.L15I|SLMAP_ENST00000295951.3_Missense_Mutation_p.L464I|SLMAP_ENST00000449503.2_Missense_Mutation_p.L443I|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000416870.1_Missense_Mutation_p.L15I|SLMAP_ENST00000428312.1_Missense_Mutation_p.L481I|SLMAP_ENST00000495364.1_Missense_Mutation_p.L15I|SLMAP_ENST00000295952.3_Missense_Mutation_p.L464I			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	481					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	p.L464F(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CAAAGTGTCCCTTTTAAAAGG	0.343													6	236	---	---	---	---	0	0
LRIG1	26018	broad.mit.edu	37	3	66467662	66467662	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:66467662C>A	ENST00000383703.3	-	4	997	c.394G>T	c.(394-396)Ggg>Tgg	p.G132W	LRIG1_ENST00000273261.3_Missense_Mutation_p.G132W			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	132						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGCTGGCTCCCCTCCACGCTG	0.483													7	369	---	---	---	---	0	0
C3orf38	285237	broad.mit.edu	37	3	88202481	88202481	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:88202481G>T	ENST00000318887.3	+	2	545	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W	C3orf38_ENST00000464919.1_3'UTR|C3orf38_ENST00000486971.1_Missense_Mutation_p.G79W	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	79					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GGCAACACAGGGGATTGTTAT	0.398													5	191	---	---	---	---	0	0
PROS1	5627	broad.mit.edu	37	3	93615462	93615462	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:93615462C>A	ENST00000394236.3	-	9	1239	c.923G>T	c.(922-924)gGg>gTg	p.G308V	PROS1_ENST00000407433.1_Missense_Mutation_p.G177V	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	308	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TAAAACAACCCCTGCAAACTG	0.373													6	294	---	---	---	---	0	0
ARL13B	200894	broad.mit.edu	37	3	93769675	93769675	+	Missense_Mutation	SNP	G	G	T	rs139897675		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:93769675G>T	ENST00000535334.1	+	8	1363	c.840G>T	c.(838-840)tgG>tgT	p.W280C	ARL13B_ENST00000539730.1_Missense_Mutation_p.W104C|ARL13B_ENST00000471138.1_Missense_Mutation_p.W383C|ARL13B_ENST00000394222.3_Missense_Mutation_p.W383C|DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000303097.7_Missense_Mutation_p.W276C	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	383							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TAGTTGGCTGGGGAACCCCTA	0.378													5	132	---	---	---	---	0	0
NSUN3	63899	broad.mit.edu	37	3	93803223	93803223	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:93803223G>T	ENST00000314622.4	+	3	606	c.395G>T	c.(394-396)gGg>gTg	p.G132V		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	132							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TTAAGGGATGGGGAGAAGGTT	0.453													6	133	---	---	---	---	0	0
EPHA6	285220	broad.mit.edu	37	3	96706580	96706580	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:96706580G>T	ENST00000389672.5	+	3	895	c.857G>T	c.(856-858)gGg>gTg	p.G286V	EPHA6_ENST00000470610.2_Missense_Mutation_p.G286V|EPHA6_ENST00000542517.1_Missense_Mutation_p.G192V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	191						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAAGACATTGGGGCGTGCATT	0.458													9	573	---	---	---	---	0	0
CRYBG3	131544	broad.mit.edu	37	3	97662113	97662113	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:97662113C>A	ENST00000182096.4	+	19	3088	c.3024C>A	c.(3022-3024)ccC>ccA	p.P1008P	CRYBG3_ENST00000485253.1_3'UTR|MINA_ENST00000333396.7_3'UTR|CRYBG3_ENST00000389622.2_Silent_p.P215P	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TAAATCAGCCCCTGGAGGGAG	0.363													5	103	---	---	---	---	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806257	97806257	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:97806257C>A	ENST00000358642.2	+	1	241	c.241C>A	c.(241-243)Cct>Act	p.P81T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTCTATAACCCCTAGGATGCT	0.418													7	477	---	---	---	---	0	0
MYH15	22989	broad.mit.edu	37	3	108117984	108117984	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:108117984A>T	ENST00000273353.3	-	35	4983	c.4927T>A	c.(4927-4929)Tgt>Agt	p.C1643S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1643						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.C1643S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CGGTTGGCACAGCTAAGCTGG	0.488													66	96	---	---	---	---	0	0
SIDT1	54847	broad.mit.edu	37	3	113286504	113286504	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:113286504C>A	ENST00000264852.4	+	3	1188	c.462C>A	c.(460-462)ccC>ccA	p.P154P	SIDT1_ENST00000393830.3_Silent_p.P154P	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	154						integral to membrane		p.P154P(2)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCATGGCACCCCTGGGTGCTC	0.502													6	345	---	---	---	---	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672875	113672875	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:113672875G>T	ENST00000330212.3	+	3	789	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G158W	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	164						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GGTCCCCAAAGGGCGTGTGGG	0.517													6	269	---	---	---	---	0	0
PARP15	165631	broad.mit.edu	37	3	122340367	122340367	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:122340367G>T	ENST00000483793.1	+	6	802	c.762G>T	c.(760-762)ggG>ggT	p.G254G	PARP15_ENST00000310366.4_Silent_p.G146G|PARP15_ENST00000464300.2_Silent_p.G380G|PARP15_ENST00000493645.1_Silent_p.G146G|PARP15_ENST00000465304.1_3'UTR			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ATGTTCCTGGGGGAAAAGATG	0.418													5	177	---	---	---	---	0	0
COPG1	22820	broad.mit.edu	37	3	128971467	128971467	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:128971467G>T	ENST00000314797.6	+	4	277	c.173G>T	c.(172-174)gGg>gTg	p.G58V		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	58					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										TTAACACAGGGGGAGCACCTG	0.532													6	209	---	---	---	---	0	0
DNAJC13	23317	broad.mit.edu	37	3	132211347	132211347	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:132211347C>A	ENST00000260818.6	+	33	3961	c.3713C>A	c.(3712-3714)cCc>cAc	p.P1238H		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1238							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAGTATTGCCCCATTCCTATA	0.408													10	581	---	---	---	---	0	0
SRPRB	58477	broad.mit.edu	37	3	133525537	133525537	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:133525537T>G	ENST00000466490.2	+	3	524	c.239T>G	c.(238-240)cTc>cGc	p.L80R		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	80						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	p.L80R(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AAAACGTTGCTCTTTGTCAGG	0.403													21	165	---	---	---	---	0	0
CLSTN2	64084	broad.mit.edu	37	3	140122471	140122471	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:140122471G>T	ENST00000458420.3	+	3	423	c.233G>T	c.(232-234)gGg>gTg	p.G78V		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	78	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTTCTGCAGGGGAAATCTGT	0.542										HNSCC(16;0.037)			9	328	---	---	---	---	0	0
RASA2	5922	broad.mit.edu	37	3	141272749	141272749	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:141272749C>A	ENST00000286364.3	+	6	613	c.578C>A	c.(577-579)cCt>cAt	p.P193H	RASA2_ENST00000452898.1_Missense_Mutation_p.P193H			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	193	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGCTGTGACCCTTATGCAACA	0.318													6	288	---	---	---	---	0	0
MED12L	116931	broad.mit.edu	37	3	150877858	150877858	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:150877858C>A	ENST00000474524.1	+	7	1115	c.1077C>A	c.(1075-1077)ccC>ccA	p.P359P	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Silent_p.P359P|MED12L_ENST00000309237.4_Silent_p.P359P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	359					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCATGGTCCCCTGGTTTATG	0.522													6	336	---	---	---	---	0	0
IGSF10	285313	broad.mit.edu	37	3	151166339	151166339	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:151166339C>A	ENST00000282466.3	-	4	1429	c.1430G>T	c.(1429-1431)aGg>aTg	p.R477M		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	477	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGTTATCCCTTGAAATCAT	0.473													8	329	---	---	---	---	0	0
SMC4	10051	broad.mit.edu	37	3	160143934	160143934	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:160143934C>A	ENST00000357388.3	+	17	3002	c.2551C>A	c.(2551-2553)Cct>Act	p.P851T	SMC4_ENST00000344722.5_Missense_Mutation_p.P851T|SMC4_ENST00000462787.1_Missense_Mutation_p.P851T|SMC4_ENST00000469762.1_Missense_Mutation_p.P826T|SMC4_ENST00000360111.2_Missense_Mutation_p.P851T|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	851					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGCTACAGCCCCTGACAAAAA	0.338													8	430	---	---	---	---	0	0
PPM1L	151742	broad.mit.edu	37	3	160783260	160783260	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:160783260G>T	ENST00000498165.1	+	3	745	c.644G>T	c.(643-645)gGg>gTg	p.G215V	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.G36V|PPM1L_ENST00000295839.9_Missense_Mutation_p.G88V	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	215	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GACTCGCGCGGGGTCCTGTGT	0.483													6	161	---	---	---	---	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905816	164905816	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:164905816G>T	ENST00000475390.1	-	2	3246	c.2803C>A	c.(2803-2805)Ctt>Att	p.L935I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L935I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	935						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAGAAGAGAAGGGTTTCTTTG	0.498										HNSCC(40;0.11)			8	426	---	---	---	---	0	0
FNDC3B	64778	broad.mit.edu	37	3	172070714	172070714	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:172070714C>A	ENST00000336824.4	+	22	2735	c.2636C>A	c.(2635-2637)cCt>cAt	p.P879H	FNDC3B_ENST00000416957.1_Missense_Mutation_p.P879H|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P879H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	879	Fibronectin type-III 7.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GATGCCTACCCTGATTCACCT	0.547													5	141	---	---	---	---	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039469	184039469	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:184039469C>A	ENST00000342981.4	+	9	1511	c.1097C>A	c.(1096-1098)cCa>cAa	p.P366Q	EIF4G1_ENST00000411531.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P202Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P366Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P170Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P279Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P366Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P373Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P170Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P279Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P202Q	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	366					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCATGGTCCCATCTGAAGAT	0.552													7	280	---	---	---	---	0	0
TPRG1	285386	broad.mit.edu	37	3	188925227	188925227	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:188925227G>T	ENST00000345063.3	+	2	221	c.54G>T	c.(52-54)gaG>gaT	p.E18D	TPRG1_ENST00000433971.1_Missense_Mutation_p.E18D	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	18										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TGAAGCAAGAGGGAGATGACC	0.458													5	182	---	---	---	---	0	0
LSG1	55341	broad.mit.edu	37	3	194379704	194379704	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:194379704G>T	ENST00000265245.5	-	7	1055	c.741C>A	c.(739-741)ccC>ccA	p.P247P		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	247					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CACCATTCAGGGGAATGGCTC	0.453													6	343	---	---	---	---	0	0
UBXN7	26043	broad.mit.edu	37	3	196094919	196094919	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:196094919G>T	ENST00000296328.4	-	8	888	c.814C>A	c.(814-816)Ccc>Acc	p.P272T	UBXN7_ENST00000428095.1_Missense_Mutation_p.P110T|UBXN7_ENST00000535858.1_Missense_Mutation_p.P124T	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	272							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CATTTTTTGGGGGGACTGCTA	0.403													6	278	---	---	---	---	0	0
ADD1	118	broad.mit.edu	37	4	2929972	2929972	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:2929972C>A	ENST00000264758.7	+	15	2217	c.2029C>A	c.(2029-2031)Cct>Act	p.P677T	ADD1_ENST00000398129.1_Missense_Mutation_p.P646T|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.P646T	NM_014189.3	NP_054908.2	P35611	ADDA_HUMAN	adducin 1 (alpha)	646					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGATCTGTCCCCTGATGAACC	0.577													8	466	---	---	---	---	0	0
AFAP1	60312	broad.mit.edu	37	4	7787997	7787997	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:7787997C>A	ENST00000420658.1	-	12	1726	c.1454G>T	c.(1453-1455)gGg>gTg	p.G485V	AFAP1_ENST00000382543.3_Missense_Mutation_p.G485V|AFAP1_ENST00000358461.2_Missense_Mutation_p.G485V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000360265.4_Missense_Mutation_p.G485V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	485						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GGAGGTGCCCCCTAGATATGG	0.488													6	232	---	---	---	---	0	0
LAP3	51056	broad.mit.edu	37	4	17590565	17590565	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:17590565C>A	ENST00000226299.4	+	7	1102	c.828C>A	c.(826-828)ccC>ccA	p.P276P	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Silent_p.P245P|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	276					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ACGAACCACCCCTGGTGTTTG	0.443													8	254	---	---	---	---	0	0
NCAPG	64151	broad.mit.edu	37	4	17839311	17839311	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:17839311C>A	ENST00000251496.2	+	16	2529	c.2353C>A	c.(2353-2355)Cct>Act	p.P785T		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	785					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GGCCAATGCCCCTGCATCTTC	0.398													10	464	---	---	---	---	0	0
GPR125	166647	broad.mit.edu	37	4	22390780	22390780	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:22390780G>T	ENST00000334304.5	-	18	2923	c.2654C>A	c.(2653-2655)cCc>cAc	p.P885H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	885					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AACAATGATGGGGATACCACC	0.413													6	355	---	---	---	---	0	0
RBPJ	3516	broad.mit.edu	37	4	26432054	26432054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:26432054G>T	ENST00000342320.4	+	10	1231	c.1055G>T	c.(1054-1056)gGg>gTg	p.G352V	RBPJ_ENST00000345843.3_Missense_Mutation_p.G351V|RBPJ_ENST00000342295.1_Missense_Mutation_p.G366V|RBPJ_ENST00000348160.4_Missense_Mutation_p.G353V|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000361572.6_Missense_Mutation_p.G366V|RBPJ_ENST00000355476.3_Missense_Mutation_p.G352V|RBPJ_ENST00000507561.1_Missense_Mutation_p.G331V			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	366					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AATGGCGGTGGGGACGTAGCA	0.363													5	162	---	---	---	---	0	0
PGM2	55276	broad.mit.edu	37	4	37839188	37839188	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:37839188G>T	ENST00000381967.4	+	4	494	c.394G>T	c.(394-396)Ggg>Tgg	p.G132W	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	132					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TATCAGTCAGGGGATTCCTGT	0.463													6	351	---	---	---	---	0	0
KLHL5	51088	broad.mit.edu	37	4	39109314	39109314	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:39109314C>A	ENST00000261425.3	+	9	1803	c.1651C>A	c.(1651-1653)Cct>Act	p.P551T	KLHL5_ENST00000261426.5_Missense_Mutation_p.P536T|KLHL5_ENST00000359687.2_Missense_Mutation_p.P597T|KLHL5_ENST00000508137.2_Missense_Mutation_p.P410T|KLHL5_ENST00000504108.1_Missense_Mutation_p.P597T|KLHL5_ENST00000381930.3_Missense_Mutation_p.P597T	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	597						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TATGTCTACCCCTAGGAGTAC	0.418													5	131	---	---	---	---	0	0
KCTD8	386617	broad.mit.edu	37	4	44177054	44177054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:44177054G>T	ENST00000360029.3	-	2	1458	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	392						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTTTTTAGAGGGGCGATCCAA	0.507										HNSCC(17;0.042)			7	424	---	---	---	---	0	0
TECRL	253017	broad.mit.edu	37	4	65147241	65147241	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:65147241G>T	ENST00000381210.3	-	10	979	c.869C>A	c.(868-870)cCc>cAc	p.P290H	TECRL_ENST00000507440.1_Missense_Mutation_p.P290H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	290					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCATGTGAAGGGGTTATAATT	0.328													5	161	---	---	---	---	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798449	69798449	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:69798449C>A	ENST00000251566.4	-	3	923	c.893G>T	c.(892-894)gGg>gTg	p.G298V	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G9V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	298						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACCATCTTCCCCTGAACTCTG	0.358													8	373	---	---	---	---	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73186567	73186567	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:73186567C>A	ENST00000286657.4	-	7	1002	c.966G>T	c.(964-966)agG>agT	p.R322S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	322	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGGGTTTCCCCTTTCTATGA	0.428													5	152	---	---	---	---	0	0
CCDC158	339965	broad.mit.edu	37	4	77276527	77276527	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:77276527G>T	ENST00000388914.3	-	14	2388	c.2236C>A	c.(2236-2238)Ctt>Att	p.L746I		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	746										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTGCTCTGAAGGGCATCTATC	0.438													7	468	---	---	---	---	0	0
PRDM8	56978	broad.mit.edu	37	4	81123291	81123291	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:81123291C>A	ENST00000339711.4	+	10	1906	c.675C>A	c.(673-675)ccC>ccA	p.P225P	PRDM8_ENST00000504452.1_Silent_p.P225P|PRDM8_ENST00000415738.2_Silent_p.P225P	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	225	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCCGGGTCCCAAGTTTTGCA	0.697											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	28	---	---	---	---	0	0
WDFY3	23001	broad.mit.edu	37	4	85664946	85664946	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:85664946G>T	ENST00000322366.6	-	37	6387	c.5980C>A	c.(5980-5982)Cct>Act	p.P1994T	WDFY3_ENST00000295888.4_Missense_Mutation_p.P1994T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1994						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GACCTTTCAGGGGAAGCCTAA	0.318													6	118	---	---	---	---	0	0
HSD17B11	51170	broad.mit.edu	37	4	88303482	88303482	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:88303482C>A	ENST00000358290.4	-	2	558	c.243G>T	c.(241-243)aaG>aaT	p.K81N	HSD17B11_ENST00000507286.1_Missense_Mutation_p.K81N	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	81					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CACCCAGTCCCTTGCATTTGG	0.398													6	385	---	---	---	---	0	0
TACR3	6870	broad.mit.edu	37	4	104510993	104510993	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:104510993G>T	ENST00000304883.2	-	5	1384	c.1244C>A	c.(1243-1245)cCc>cAc	p.P415H	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	415						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGCATCGTTGGGGTCAAACAC	0.512													8	517	---	---	---	---	0	0
ANK2	287	broad.mit.edu	37	4	114176921	114176921	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:114176921C>A	ENST00000357077.4	+	11	1074	c.1021C>A	c.(1021-1023)Cag>Aag	p.Q341K	ANK2_ENST00000264366.6_Missense_Mutation_p.Q341K|ANK2_ENST00000506722.1_Missense_Mutation_p.Q320K|ANK2_ENST00000394537.3_Missense_Mutation_p.Q341K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	341					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATGGCTGCCCAGGGAGACCA	0.458													7	251	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126242169	126242169	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:126242169C>A	ENST00000394329.3	+	1	4616	c.4603C>A	c.(4603-4605)Ctt>Att	p.L1535I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1535	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAAACGCCCTTGCTGCAGA	0.433													7	372	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126411433	126411433	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:126411433G>T	ENST00000394329.3	+	17	13469	c.13456G>T	c.(13456-13458)Ggg>Tgg	p.G4486W	FAT4_ENST00000335110.5_Missense_Mutation_p.G2727W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4486					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGTCCTGCGGGGCATGTCTG	0.617													5	162	---	---	---	---	0	0
PCDH18	54510	broad.mit.edu	37	4	138449941	138449941	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:138449941C>A	ENST00000344876.4	-	2	2907	c.2521G>T	c.(2521-2523)Ggg>Tgg	p.G841W	PCDH18_ENST00000412923.2_Missense_Mutation_p.G840W|PCDH18_ENST00000507846.1_Missense_Mutation_p.G620W|PCDH18_ENST00000510305.1_Missense_Mutation_p.G52W|PCDH18_ENST00000511115.1_Missense_Mutation_p.G21W	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	841					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGATATTGCCCCTGGTGAAGC	0.403													7	300	---	---	---	---	0	0
MAML3	55534	broad.mit.edu	37	4	140641171	140641171	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:140641171C>A	ENST00000509479.2	-	5	3579	c.2723G>T	c.(2722-2724)gGg>gTg	p.G908V	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	904	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CATTCCAACCCCCTGCCCAGA	0.557													7	390	---	---	---	---	0	0
FGG	2266	broad.mit.edu	37	4	155526061	155526061	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:155526061C>A	ENST00000404648.3	-	9	1526	c.1287G>T	c.(1285-1287)ggG>ggT	p.G429G	FGG_ENST00000405164.1_Silent_p.G437G|FGG_ENST00000336098.3_Silent_p.G429G|FGG_ENST00000407946.1_Silent_p.G437G	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	429	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTTTGGCTCCCCCCAGGTGGT	0.448													8	358	---	---	---	---	0	0
GLRB	2743	broad.mit.edu	37	4	158073995	158073995	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:158073995C>A	ENST00000264428.4	+	9	1300	c.1030C>A	c.(1030-1032)Ctg>Atg	p.L344M	GLRB_ENST00000509282.1_Missense_Mutation_p.L344M|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	344					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GTTTGCTTCCCTGGTGGAGTA	0.488													5	168	---	---	---	---	0	0
NAF1	92345	broad.mit.edu	37	4	164050386	164050386	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:164050386G>T	ENST00000274054.2	-	8	1341	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	383					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GCAAGATCGAGGGTATCTGGC	0.438													5	165	---	---	---	---	0	0
FAT1	2195	broad.mit.edu	37	4	187541626	187541626	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:187541626G>T	ENST00000441802.2	-	10	6323	c.6114C>A	c.(6112-6114)ccC>ccA	p.P2038P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2038	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACGATCGAAGGGCGTGCCAG	0.488										HNSCC(5;0.00058)			7	407	---	---	---	---	0	0
SDHA	6389	broad.mit.edu	37	5	233690	233690	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:233690C>A	ENST00000264932.6	+	8	1109	c.994C>A	c.(994-996)Cct>Act	p.P332T	SDHA_ENST00000510361.1_Missense_Mutation_p.P284T|SDHA_ENST00000504309.1_Missense_Mutation_p.P332T	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	332					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCGATACGCCCCTGTCGCGAA	0.527									Familial Paragangliomas				6	242	---	---	---	---	0	0
CEP72	55722	broad.mit.edu	37	5	635690	635690	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:635690C>A	ENST00000264935.5	+	6	985	c.895C>A	c.(895-897)Cca>Aca	p.P299T	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	299					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTACTTCACCCCACACCCAGG	0.532													5	115	---	---	---	---	0	0
CDH9	1007	broad.mit.edu	37	5	26881607	26881607	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:26881607G>T	ENST00000231021.4	-	12	2180	c.2008C>A	c.(2008-2010)Caa>Aaa	p.Q670K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	670					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCAAAAGCTTGGGTATCTTCT	0.433													6	390	---	---	---	---	0	0
RAI14	26064	broad.mit.edu	37	5	34821917	34821917	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:34821917C>A	ENST00000265109.3	+	14	1362	c.1075C>A	c.(1075-1077)Ctt>Att	p.L359I	RAI14_ENST00000512629.1_Missense_Mutation_p.L330I|RAI14_ENST00000503673.1_Missense_Mutation_p.L359I|RAI14_ENST00000397449.1_Missense_Mutation_p.L352I|RAI14_ENST00000428746.2_Missense_Mutation_p.L359I|RAI14_ENST00000515799.1_Missense_Mutation_p.L362I|RAI14_ENST00000506376.1_Missense_Mutation_p.L351I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	359						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGTTGCTTCCCTTACCTTACA	0.368													6	238	---	---	---	---	0	0
PRLR	5618	broad.mit.edu	37	5	35065849	35065849	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:35065849G>T	ENST00000382002.5	-	10	1637	c.1211C>A	c.(1210-1212)cCc>cAc	p.P404H	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P303H|PRLR_ENST00000511486.1_Missense_Mutation_p.P303H|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	404					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGAAAATAGGGGATTTTGCC	0.493													6	251	---	---	---	---	0	0
NADK2	133686	broad.mit.edu	37	5	36217949	36217949	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:36217949C>A	ENST00000397338.1	-	6	414	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	NADK2_ENST00000282512.3_Missense_Mutation_p.G65W|NADK2_ENST00000514504.1_Missense_Mutation_p.G228W|NADK2_ENST00000506945.1_Missense_Mutation_p.G65W|NADK2_ENST00000381937.4_Missense_Mutation_p.G228W					NAD kinase 2, mitochondrial																		ATGCCAGTCCCTTCAAGGTAT	0.388													5	178	---	---	---	---	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427338	38427338	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:38427338G>T	ENST00000322350.5	+	14	2384	c.2038G>T	c.(2038-2040)Ggg>Tgg	p.G680W	EGFLAM_ENST00000336740.6_Missense_Mutation_p.G446W|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G680W|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G46W	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	680	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGTGGCTCTGGGACCGGTGT	0.502													6	313	---	---	---	---	0	0
LIFR	3977	broad.mit.edu	37	5	38481998	38481998	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:38481998C>A	ENST00000263409.4	-	20	3155	c.2993G>T	c.(2992-2994)gGg>gTg	p.G998V	LIFR_ENST00000453190.2_Missense_Mutation_p.G998V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	998					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATAGCCTGCCCCTCCTACAGG	0.458			T	PLAG1	salivary adenoma								6	214	---	---	---	---	0	0
MROH2B	133558	broad.mit.edu	37	5	41061824	41061824	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:41061824G>T	ENST00000399564.4	-	6	913	c.463C>A	c.(463-465)Ctt>Att	p.L155I		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AATTTCTCAAGGGCTGCATTT	0.398													4	75	---	---	---	---	0	0
C6	729	broad.mit.edu	37	5	41195902	41195902	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:41195902C>A	ENST00000263413.3	-	5	843	c.579G>T	c.(577-579)atG>atT	p.M193I	C6_ENST00000337836.5_Missense_Mutation_p.M193I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	193	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACCCATTGCCCATCAACTGTA	0.433													6	256	---	---	---	---	0	0
NNT	23530	broad.mit.edu	37	5	43649338	43649338	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:43649338G>T	ENST00000264663.5	+	11	1755	c.1534G>T	c.(1534-1536)Ggg>Tgg	p.G512W	NNT_ENST00000344920.4_Missense_Mutation_p.G512W|NNT_ENST00000512996.2_Missense_Mutation_p.G381W	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	512					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGGCATTGTGGGGTATCATAC	0.502													7	442	---	---	---	---	0	0
ITGA1	3672	broad.mit.edu	37	5	52183671	52183671	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:52183671G>T	ENST00000282588.6	+	8	1256	c.798G>T	c.(796-798)cgG>cgT	p.R266R		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	266	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CGGAAGCCCGGGGTGCCCGAA	0.398													5	131	---	---	---	---	0	0
TMEM171	134285	broad.mit.edu	37	5	72419699	72419699	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:72419699G>T	ENST00000454765.2	+	2	972	c.499G>T	c.(499-501)Ggg>Tgg	p.G167W	TMEM171_ENST00000287773.5_Missense_Mutation_p.G167W			Q8WVE6	TM171_HUMAN	transmembrane protein 171	167						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCAGATCATGGGGCCCTTGAT	0.547													5	179	---	---	---	---	0	0
TMEM171	134285	broad.mit.edu	37	5	72427549	72427549	+	Missense_Mutation	SNP	C	C	A	rs17853415		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:72427549C>A	ENST00000454765.2	+	4	1440	c.967C>A	c.(967-969)Cca>Aca	p.P323T	TMEM171_ENST00000287773.5_Missense_Mutation_p.P322T			Q8WVE6	TM171_HUMAN	transmembrane protein 171	323				P -> S (in Ref. 2; AAH35310).		integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TGAGCCTTCCCCACCGTAAAC	0.353													6	329	---	---	---	---	0	0
CRHBP	1393	broad.mit.edu	37	5	76259235	76259235	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:76259235C>A	ENST00000274368.4	+	6	1183	c.761C>A	c.(760-762)cCt>cAt	p.P254H	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	254					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGATTGGACCCTTCCAAGATG	0.453													7	408	---	---	---	---	0	0
AGGF1	55109	broad.mit.edu	37	5	76349809	76349809	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:76349809C>A	ENST00000312916.7	+	10	1869	c.1487C>A	c.(1486-1488)cCt>cAt	p.P496H		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	496					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAATGTGACCCTTACGTACTT	0.393													6	232	---	---	---	---	0	0
WDR41	55255	broad.mit.edu	37	5	76734163	76734163	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:76734163C>A	ENST00000296679.4	-	10	1281	c.906G>T	c.(904-906)agG>agT	p.R302S	WDR41_ENST00000414719.2_Missense_Mutation_p.R48S|WDR41_ENST00000507029.1_Missense_Mutation_p.R247S	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	302										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CGTATAAACCCCTTCCAACTG	0.458													8	207	---	---	---	---	0	0
VCAN	1462	broad.mit.edu	37	5	82833038	82833038	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:82833038C>A	ENST00000265077.3	+	8	4781	c.4216C>A	c.(4216-4218)Cca>Aca	p.P1406T	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P419T|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1406	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GACAACCACCCCATCTGTGCA	0.458													4	74	---	---	---	---	0	0
FER	2241	broad.mit.edu	37	5	108521967	108521967	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:108521967G>T	ENST00000281092.4	+	19	2654	c.2270G>T	c.(2269-2271)gGg>gTg	p.G757V	FER_ENST00000438717.2_Missense_Mutation_p.G582V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	757	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTCAGCTTAGGGGTTTGTCCG	0.488													6	222	---	---	---	---	0	0
FER	2241	broad.mit.edu	37	5	108523221	108523221	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:108523221C>A	ENST00000281092.4	+	20	2798	c.2414C>A	c.(2413-2415)cCt>cAt	p.P805H	FER_ENST00000438717.2_Missense_Mutation_p.P630H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	805	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GAAAATCGCCCTAAGTTCAGT	0.463													4	134	---	---	---	---	0	0
MAN2A1	4124	broad.mit.edu	37	5	109106195	109106195	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:109106195C>A	ENST00000261483.4	+	7	2201	c.1149C>A	c.(1147-1149)ccC>ccA	p.P383P		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	383					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTGGTTGTCCCTGGGGAGTCC	0.433													6	215	---	---	---	---	0	0
DCP2	167227	broad.mit.edu	37	5	112349073	112349073	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:112349073G>T	ENST00000389063.2	+	11	1353	c.1155G>T	c.(1153-1155)gaG>gaT	p.E385D	DCP2_ENST00000515408.1_Missense_Mutation_p.E350D|DCP2_ENST00000543319.1_Missense_Mutation_p.E174D	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	385					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		AACATGCTGAGGGACAGCCCG	0.393													6	280	---	---	---	---	0	0
FEM1C	56929	broad.mit.edu	37	5	114860425	114860425	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:114860425C>A	ENST00000274457.3	-	3	1995	c.1434G>T	c.(1432-1434)agG>agT	p.R478S		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	478						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TATTCTTTCCCCTTGGATGCA	0.393													7	469	---	---	---	---	0	0
MEGF10	84466	broad.mit.edu	37	5	126734475	126734475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:126734475C>A	ENST00000274473.6	+	8	1034	c.767C>A	c.(766-768)cCt>cAt	p.P256H	MEGF10_ENST00000503335.2_Missense_Mutation_p.P256H|MEGF10_ENST00000508365.1_Missense_Mutation_p.P256H|MEGF10_ENST00000418761.2_Missense_Mutation_p.P256H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	256	EGF-like 4.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTTGCCCTTCTGGCTGG	0.522													5	123	---	---	---	---	0	0
FBN2	2201	broad.mit.edu	37	5	127670475	127670475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:127670475C>A	ENST00000508053.1	-	37	5009	c.4035G>T	c.(4033-4035)aaG>aaT	p.K1345N	FBN2_ENST00000508989.1_Missense_Mutation_p.K1312N|FBN2_ENST00000507835.1_Missense_Mutation_p.K195N|FBN2_ENST00000262464.4_Missense_Mutation_p.K1345N			P35556	FBN2_HUMAN	fibrillin 2	1345	EGF-like 21; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAAGGATCCCTTTGTGTTCT	0.388													7	186	---	---	---	---	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128994403	128994403	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:128994403G>T	ENST00000274487.4	+	15	2525	c.2380G>T	c.(2380-2382)Ggg>Tgg	p.G794W	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	794	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GATCATTAAAGGGGATTTTAA	0.343													6	337	---	---	---	---	0	0
GDF9	2661	broad.mit.edu	37	5	132200139	132200139	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:132200139C>A	ENST00000378673.2	-	2	953	c.87G>T	c.(85-87)ggG>ggT	p.G29G	GDF9_ENST00000296875.2_Silent_p.G29G|GDF9_ENST00000464378.1_Intron			O60383	GDF9_HUMAN	growth differentiation factor 9	29					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGCTTCTCCCCCAGAAGCCT	0.517													5	149	---	---	---	---	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235236	137235236	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:137235236C>A	ENST00000508638.1	+	5	611	c.556C>A	c.(556-558)Cct>Act	p.P186T	PKD2L2_ENST00000350250.4_Missense_Mutation_p.P152T|PKD2L2_ENST00000290431.5_Missense_Mutation_p.P186T|PKD2L2_ENST00000502810.1_Missense_Mutation_p.P186T|PKD2L2_ENST00000508883.1_Missense_Mutation_p.P186T	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	186						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TACCAACTCCCCTTGGCACTG	0.353													6	238	---	---	---	---	0	0
ETF1	2107	broad.mit.edu	37	5	137844470	137844470	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:137844470G>T	ENST00000499810.2	-	10	1468	c.1020C>A	c.(1018-1020)ccC>ccA	p.P340P	ETF1_ENST00000360541.5_Silent_p.P373P|ETF1_ENST00000503014.1_Silent_p.P359P	NM_001256302.1|NM_001282185.1	NP_001243231.1|NP_001269114.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	373					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTCCAACAGGGGCATGCTCT	0.413													6	288	---	---	---	---	0	0
PCDHA3	0	broad.mit.edu	37	5	140180997	140180997	+	Missense_Mutation	SNP	G	G	T	rs149543626		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140180997G>T	ENST00000522353.2	+	1	215	c.215G>T	c.(214-216)gGg>gTg	p.G72V	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G72V|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGACACGGGGACCTTCTG	0.627													5	186	---	---	---	---	0	0
PCDHB4	0	broad.mit.edu	37	5	140502609	140502609	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140502609C>A	ENST00000194152.1	+	1	1029	c.1029C>A	c.(1027-1029)ccC>ccA	p.P343P		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		343	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGACAATCCCCCAGAACTTA	0.443													8	402	---	---	---	---	0	0
PCDHB8	0	broad.mit.edu	37	5	140558651	140558651	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140558651C>A	ENST00000239444.2	+	1	1281	c.1036C>A	c.(1036-1038)Cca>Aca	p.P346T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		346	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGACCATGCCCCAGAAGTTAC	0.448													11	792	---	---	---	---	0	0
PCDHGA3	0	broad.mit.edu	37	5	140723735	140723735	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140723735G>T	ENST00000253812.6	+	1	135	c.135G>T	c.(133-135)gtG>gtT	p.V45V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCTTCGTGGGCAACATCG	0.617											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	329	---	---	---	---	0	0
PCDHGA6	0	broad.mit.edu	37	5	140755086	140755086	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140755086C>A	ENST00000517434.1	+	1	1436	c.1436C>A	c.(1435-1437)cCt>cAt	p.P479H	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGGACCCTGACGTGGAC	0.582													6	300	---	---	---	---	0	0
PCDHGA8	0	broad.mit.edu	37	5	140773098	140773098	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140773098C>A	ENST00000398604.2	+	1	718	c.718C>A	c.(718-720)Ccg>Acg	p.P240T	PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAATGCCCCGGTTTTTCC	0.582													5	162	---	---	---	---	0	0
TCERG1	10915	broad.mit.edu	37	5	145843328	145843328	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:145843328C>A	ENST00000296702.5	+	5	1145	c.1107C>A	c.(1105-1107)ccC>ccA	p.P369P	TCERG1_ENST00000394421.2_Silent_p.P369P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	369	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGTGTTCCCCTTCCTGGCA	0.448													6	372	---	---	---	---	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145969654	145969654	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:145969654C>A	ENST00000394413.3	-	9	1758	c.1188G>T	c.(1186-1188)ggG>ggT	p.G396G	PPP2R2B_ENST00000453001.1_Silent_p.G396G|PPP2R2B_ENST00000504198.1_Silent_p.G402G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Silent_p.G385G|PPP2R2B_ENST00000394411.4_Silent_p.G396G|PPP2R2B_ENST00000336640.6_Silent_p.G399G|PPP2R2B_ENST00000394410.2_Silent_p.G385G|PPP2R2B_ENST00000394409.3_Silent_p.G454G|PPP2R2B_ENST00000356826.3_Silent_p.G396G|PPP2R2B_ENST00000394414.1_Silent_p.G462G|CTB-99A3.1_ENST00000512730.1_RNA			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	396					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.G454G(1)|p.G399G(1)|p.G396G(1)|p.G385G(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGCTTGCCCCCCACACACA	0.498													7	374	---	---	---	---	0	0
DPYSL3	1809	broad.mit.edu	37	5	146795341	146795341	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:146795341G>T	ENST00000343218.5	-	4	948	c.751C>A	c.(751-753)Ctg>Atg	p.L251M	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.L137M	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	137					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACATGCAGGGCATAGTCA	0.552													6	346	---	---	---	---	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149011707	149011707	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149011707G>C	ENST00000333677.6	+	13	2144	c.1981G>C	c.(1981-1983)Gcc>Ccc	p.A661P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	661	SH3 2.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.A661P(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGGCTTCTTGGCCAGGGCTCG	0.592													3	93	---	---	---	---	0	0
CSF1R	1436	broad.mit.edu	37	5	149447876	149447876	+	Missense_Mutation	SNP	G	G	T	rs139203165	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149447876G>T	ENST00000286301.3	-	11	1819	c.1528C>A	c.(1528-1530)Ccg>Acg	p.P510T		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	510					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AACTCATCCGGGGGATGCGTG	0.597													4	83	---	---	---	---	0	0
SLC6A7	6534	broad.mit.edu	37	5	149581948	149581948	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149581948G>T	ENST00000230671.2	+	7	1268	c.897G>T	c.(895-897)ctG>ctT	p.L299L	SLC6A7_ENST00000524041.1_Silent_p.L299L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	299						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCTATTCCCTGGGTGTGGGCT	0.572													5	175	---	---	---	---	0	0
CD74	972	broad.mit.edu	37	5	149784707	149784707	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149784707C>A	ENST00000353334.6	-	5	657	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W	CD74_ENST00000377795.3_Intron|CD74_ENST00000009530.7_Missense_Mutation_p.G160W|CD74_ENST00000524315.1_Intron	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	160					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAAGCTCCCCTTCAGTGGC	0.547			T	ROS1	NSCLC								5	161	---	---	---	---	0	0
ZNF300	91975	broad.mit.edu	37	5	150276299	150276299	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:150276299C>A	ENST00000446148.2	-	7	977	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	ZNF300_ENST00000418587.2_Missense_Mutation_p.G132W|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.G168W|ZNF300_ENST00000394226.2_Missense_Mutation_p.G168W	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATATTTTCCCCAGTGGATTA	0.348													8	305	---	---	---	---	0	0
G3BP1	10146	broad.mit.edu	37	5	151166205	151166205	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:151166205C>A	ENST00000543466.1	+	0	186				G3BP1_ENST00000394123.3_Silent_p.P8P|G3BP1_ENST00000356245.3_Silent_p.P8P			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1						Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGCCTAGTCCCCTGCTGGTCG	0.478													7	244	---	---	---	---	0	0
ATP10B	23120	broad.mit.edu	37	5	160114833	160114833	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:160114833G>T	ENST00000327245.5	-	5	1095	c.249C>A	c.(247-249)ccC>ccA	p.P83P	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	83					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGATTCCGGGGCAGGAAGG	0.458													6	252	---	---	---	---	0	0
GABRB2	0	broad.mit.edu	37	5	160758068	160758068	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:160758068G>T	ENST00000274547.2	-	9	1116	c.899C>A	c.(898-900)cCc>cAc	p.P300H	GABRB2_ENST00000517901.1_Missense_Mutation_p.P237H|GABRB2_ENST00000393959.1_Missense_Mutation_p.P300H|GABRB2_ENST00000353437.6_Missense_Mutation_p.P300H|GABRB2_ENST00000517547.1_Missense_Mutation_p.P140H|GABRB2_ENST00000520240.1_Missense_Mutation_p.P300H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	300					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTTCACATAGGGGATTTTAGG	0.448													7	337	---	---	---	---	0	0
STK10	6793	broad.mit.edu	37	5	171471911	171471911	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:171471911G>T	ENST00000176763.5	-	19	3225	c.2882C>A	c.(2881-2883)cCc>cAc	p.P961H		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	961							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAACTGTAGGGGAAGAACTT	0.587													5	136	---	---	---	---	0	0
HK3	3101	broad.mit.edu	37	5	176309037	176309037	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:176309037C>A	ENST00000292432.5	-	16	2236	c.2145G>T	c.(2143-2145)tgG>tgT	p.W715C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	715	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAAGGCGCCCCACTCCATGT	0.632													5	133	---	---	---	---	0	0
UIMC1	51720	broad.mit.edu	37	5	176332480	176332480	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:176332480C>A	ENST00000377219.2	-	15	2132	c.1966G>T	c.(1966-1968)Ggg>Tgg	p.G656W	UIMC1_ENST00000511320.1_Missense_Mutation_p.G655W|UIMC1_ENST00000377227.4_Missense_Mutation_p.G655W|UIMC1_ENST00000506128.1_Missense_Mutation_p.G489W	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	655					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTTCCATCCCTGGTGAAGGC	0.433													4	85	---	---	---	---	0	0
COL23A1	91522	broad.mit.edu	37	5	177715351	177715351	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:177715351C>A	ENST00000390654.3	-	5	772	c.415G>T	c.(415-417)Ggg>Tgg	p.G139W	COL23A1_ENST00000407622.1_Intron	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	139	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCTGATTGCCCCTGTGGTAAT	0.443													6	213	---	---	---	---	0	0
MAML1	9794	broad.mit.edu	37	5	179193269	179193269	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:179193269C>A	ENST00000292599.3	+	2	1521	c.1258C>A	c.(1258-1260)Ccg>Acg	p.P420T	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	420					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGGCCACCCCGGCACCAGC	0.657													5	170	---	---	---	---	0	0
MAPK9	5601	broad.mit.edu	37	5	179676014	179676014	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:179676014C>A	ENST00000452135.2	-	6	873	c.575G>T	c.(574-576)cGg>cTg	p.R192L	MAPK9_ENST00000343111.6_Missense_Mutation_p.R192L|MAPK9_ENST00000539014.1_Missense_Mutation_p.R192L|MAPK9_ENST00000347470.4_Missense_Mutation_p.R192L|MAPK9_ENST00000393360.3_Missense_Mutation_p.R192L|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.R192L|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.R192L			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	192	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	p.R192L(4)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGGGCGCCCGGTAGTACCG	0.552													6	515	---	---	---	---	0	0
TRIM52	84851	broad.mit.edu	37	5	180687287	180687287	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:180687287G>T	ENST00000327767.4	-	1	832	c.528C>A	c.(526-528)ccC>ccA	p.P176P	CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	176						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GCCCTGGAAGGGGCAAGGAAG	0.527													8	259	---	---	---	---	0	0
TFAP2A	7020	broad.mit.edu	37	6	10400801	10400801	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:10400801C>A	ENST00000379613.3	-	6	1167	c.911G>T	c.(910-912)aGg>aTg	p.R304M	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Missense_Mutation_p.R296M|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R302M|TFAP2A_ENST00000482890.1_Missense_Mutation_p.R302M|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R298M			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	302	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CCCAAAGTCCCTGGCTAGGTG	0.527													5	140	---	---	---	---	0	0
ERVFRD-1	0	broad.mit.edu	37	6	11105026	11105026	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:11105026G>T	ENST00000472091.1	-	2	893	c.518C>A	c.(517-519)cCc>cAc	p.P173H	ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.P173H|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN		173						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TGGAGGTTTGGGGAATCTTGG	0.443													9	662	---	---	---	---	0	0
TBC1D7	51256	broad.mit.edu	37	6	13316809	13316809	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:13316809G>T	ENST00000607658.1	-	4	582	c.432C>A	c.(430-432)ccC>ccA	p.P144P	TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000379307.2_Silent_p.P144P|TBC1D7_ENST00000379300.3_Silent_p.P171P|TBC1D7_ENST00000356436.4_Silent_p.P171P|TBC1D7_ENST00000607532.1_5'UTR			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	171	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TCACCAACTGGGGCAAGGAAT	0.478													7	256	---	---	---	---	0	0
BTN2A1	11120	broad.mit.edu	37	6	26465542	26465542	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:26465542G>T	ENST00000429381.1	+	5	1054	c.842G>T	c.(841-843)gGg>gTg	p.G281V	BTN2A1_ENST00000469185.1_Missense_Mutation_p.G281V|BTN2A1_ENST00000312541.5_Missense_Mutation_p.G281V|BTN2A1_ENST00000541522.1_Missense_Mutation_p.G220V			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	281					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						ATTCTGTCAGGGGAAAAGGAG	0.403													6	215	---	---	---	---	0	0
MAS1L	116511	broad.mit.edu	37	6	29454728	29454728	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:29454728C>A	ENST00000377127.3	-	1	1010	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	318						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CTGAGGCTCCCCACAAAGAAA	0.443													6	271	---	---	---	---	0	0
HLA-F	3134	broad.mit.edu	37	6	29694719	29694719	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:29694719G>T	ENST00000440587.2	+	6	1068	c.709G>T	c.(709-711)Ggg>Tgg	p.G237W	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366W			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ATTTCTCCTGGGGGTGCTCTT	0.493													6	285	---	---	---	---	0	0
TRIM10	10107	broad.mit.edu	37	6	30128473	30128473	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:30128473G>T	ENST00000449742.2	-	1	238	c.163C>A	c.(163-165)Cct>Act	p.P55T	TRIM10_ENST00000376704.3_Missense_Mutation_p.P55T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	55						cytoplasm	zinc ion binding			ovary(1)	1						GGGCAAGTAGGGGACTCCTCC	0.617													9	318	---	---	---	---	0	0
MDC1	9656	broad.mit.edu	37	6	30670419	30670419	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:30670419G>T	ENST00000376406.3	-	14	6660	c.6013C>A	c.(6013-6015)Cct>Act	p.P2005T	MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2005	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGACTCCAGGGGTCACATAG	0.493								Other conserved DNA damage response genes					6	188	---	---	---	---	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927105	31927105	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:31927105C>A	ENST00000375394.2	+	2	167	c.54C>A	c.(52-54)ccC>ccA	p.P18P	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	18						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGGACCTACCCCTTCGGGCCG	0.567													8	577	---	---	---	---	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930234	31930234	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:31930234C>A	ENST00000375394.2	+	11	1196	c.1083C>A	c.(1081-1083)ccC>ccA	p.P361P	SKIV2L_ENST00000544581.1_Silent_p.P168P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	361	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ACACTTCGCCCATCAAGGCCC	0.597													5	125	---	---	---	---	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32905075	32905075	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:32905075C>A	ENST00000416244.2	-	3	690	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	HLA-DMB_ENST00000418107.2_Missense_Mutation_p.A166S			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	166	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		p.A166S(4)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGGGCTGGGCAGTCTTGTGC	0.562													5	200	---	---	---	---	0	0
RXRB	6257	broad.mit.edu	37	6	33164173	33164173	+	Missense_Mutation	SNP	C	C	A	rs112185934		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:33164173C>A	ENST00000413614.2	-	4	962	c.743G>T	c.(742-744)gGg>gTg	p.G248V	RXRB_ENST00000374685.4_Intron|RXRB_ENST00000374680.3_Intron|RXRB_ENST00000544186.1_Intron			P28702	RXRB_HUMAN	retinoid X receptor, beta	134					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCCCCAACCCCCATCACGAA	0.587													5	157	---	---	---	---	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246264	33246264	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:33246264C>A	ENST00000451237.1	+	1	1348	c.1068C>A	c.(1066-1068)ccC>ccA	p.P356P		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	356					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGACTGCGCCCTTTTGCTCCT	0.612													6	258	---	---	---	---	0	0
KIFC1	3833	broad.mit.edu	37	6	33374079	33374079	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:33374079G>T	ENST00000428849.2	+	8	2093	c.1643G>T	c.(1642-1644)gGg>gTg	p.G548V		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	548	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAGATTTCTGGGGAGCACTCC	0.657													7	255	---	---	---	---	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985545	34985545	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:34985545C>A	ENST00000360359.3	+	11	1857	c.1719C>A	c.(1717-1719)ccC>ccA	p.P573P	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	573						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAGGCCTGCCCACCACCAACA	0.647													5	113	---	---	---	---	0	0
SLC26A8	116369	broad.mit.edu	37	6	35980014	35980014	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:35980014G>T	ENST00000490799.1	-	3	677	c.324C>A	c.(322-324)ccC>ccA	p.P108P	SLC26A8_ENST00000394602.2_Silent_p.P108P|SLC26A8_ENST00000355574.2_Silent_p.P108P	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	108					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CCTTACCTTGGGGAACTTGCA	0.423													9	548	---	---	---	---	0	0
C6orf222	389384	broad.mit.edu	37	6	36297859	36297859	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:36297859C>A	ENST00000437635.2	-	2	786	c.609G>T	c.(607-609)agG>agT	p.R203S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	203										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCCGCTCACCCCTGCGAGCTG	0.647													6	107	---	---	---	---	0	0
ETV7	51513	broad.mit.edu	37	6	36334671	36334671	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:36334671C>A	ENST00000373738.1	-	6	1569	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	ETV7_ENST00000339796.5_Missense_Mutation_p.G297W|ETV7_ENST00000340181.4_Missense_Mutation_p.G297W|ETV7_ENST00000373737.4_Missense_Mutation_p.G220W|ETV7_ENST00000538992.1_Missense_Mutation_p.G146W	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	297					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						AGTTTCTGCCCCGGTTCCTTC	0.552													9	588	---	---	---	---	0	0
RNF8	9025	broad.mit.edu	37	6	37336306	37336306	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:37336306G>T	ENST00000373479.4	+	3	480	c.287G>T	c.(286-288)aGg>aTg	p.R96M	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.R96M	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	96					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAACCTTTAAGGGTCTATTCC	0.413													6	367	---	---	---	---	0	0
MDFI	4188	broad.mit.edu	37	6	41617368	41617368	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:41617368G>T	ENST00000373050.4	+	3	275	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W				Q99750	MDFI_HUMAN	MyoD family inhibitor	91					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CCAGCCTCAGGGGAACCCCTT	0.632													8	442	---	---	---	---	0	0
TFEB	7942	broad.mit.edu	37	6	41703948	41703948	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:41703948C>A	ENST00000358871.2	-	0	49				TFEB_ENST00000403298.4_De_novo_Start_OutOfFrame	NM_001167827.1	NP_001161299.2	P19484	TFEB_HUMAN	transcription factor EB						embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GTCACCTTCCCTTGTTGGAAG	0.547			T	ALPHA	renal (childhood epithelioid)								7	410	---	---	---	---	0	0
CUL9	23113	broad.mit.edu	37	6	43166385	43166385	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:43166385C>A	ENST00000252050.4	+	12	2926	c.2842C>A	c.(2842-2844)Cct>Act	p.P948T	CUL9_ENST00000354495.3_Missense_Mutation_p.P838T|CUL9_ENST00000372647.2_Missense_Mutation_p.P948T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	948					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGATGGGTCCCCTGAGCTACT	0.577													7	331	---	---	---	---	0	0
ABCC10	89845	broad.mit.edu	37	6	43416688	43416688	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:43416688C>A	ENST00000244533.3	+	17	4304	c.3945C>A	c.(3943-3945)ccC>ccA	p.P1315P	ABCC10_ENST00000372530.4_Silent_p.P1343P	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1343	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACCTGGACCCCCAGGGCCTAC	0.562													4	76	---	---	---	---	0	0
XPO5	57510	broad.mit.edu	37	6	43538333	43538333	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:43538333C>A	ENST00000265351.7	-	5	737	c.527G>T	c.(526-528)aGg>aTg	p.R176M		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	176					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTGGATGTCCCTTCTTCTTTG	0.413													6	381	---	---	---	---	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623673	46623673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:46623673C>A	ENST00000371347.5	+	2	452	c.200C>A	c.(199-201)cCc>cAc	p.P67H	SLC25A27_ENST00000411689.2_Missense_Mutation_p.P67H|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	67					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAATCTGCCCCCTATAGGGGA	0.507													6	188	---	---	---	---	0	0
PKHD1	5314	broad.mit.edu	37	6	51609253	51609253	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:51609253C>A	ENST00000371117.3	-	60	10361	c.10086G>T	c.(10084-10086)ctG>ctT	p.L3362L	PKHD1_ENST00000340994.4_Silent_p.L3362L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3362					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGCAGACCCAGGGCTCTCC	0.448													6	258	---	---	---	---	0	0
PKHD1	5314	broad.mit.edu	37	6	51777278	51777278	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:51777278C>A	ENST00000371117.3	-	38	6493	c.6218G>T	c.(6217-6219)gGg>gTg	p.G2073V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2073V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2073					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACTTCATCCCCAGGGTTCCA	0.473													6	294	---	---	---	---	0	0
MLIP	90523	broad.mit.edu	37	6	53989461	53989461	+	Missense_Mutation	SNP	G	G	T	rs143336016		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:53989461G>T	ENST00000514921.1	+	3	523	c.410G>T	c.(409-411)gGg>gTg	p.G137V	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Missense_Mutation_p.G75V|MLIP_ENST00000358276.5_Missense_Mutation_p.G131V|MLIP_ENST00000509997.1_Missense_Mutation_p.G85V|MLIP_ENST00000274897.5_Missense_Mutation_p.G137V|MLIP_ENST00000370877.2_Missense_Mutation_p.G85V|MLIP_ENST00000502396.1_Missense_Mutation_p.G148V	NM_001281746.1	NP_001268675.1	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	137						nuclear envelope|PML body	protein binding	p.G137V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GACTCCGAAGGGGAAGATGAG	0.502													9	197	---	---	---	---	0	0
DST	667	broad.mit.edu	37	6	56481294	56481294	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:56481294C>A	ENST00000370765.6	-	24	7078	c.6971G>T	c.(6970-6972)gGg>gTg	p.G2324V	DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1657					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTCCTCTCCCCAAATGGAAA	0.383													6	251	---	---	---	---	0	0
BAI3	577	broad.mit.edu	37	6	70034913	70034913	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:70034913G>T	ENST00000370598.1	+	21	3785	c.2964G>T	c.(2962-2964)tgG>tgT	p.W988C	BAI3_ENST00000238918.8_Splice_Site_p.W194C	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	988					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCCTTGGATGGGGTAAGCATA	0.408													7	214	---	---	---	---	0	0
COL12A1	1303	broad.mit.edu	37	6	75884838	75884838	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:75884838C>A	ENST00000322507.8	-	13	2935	c.2626G>T	c.(2626-2628)Ggg>Tgg	p.G876W	COL12A1_ENST00000416123.2_Missense_Mutation_p.G876W|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.G876W	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	876	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATTGTGTCCCTTCCTTCAAT	0.498													6	347	---	---	---	---	0	0
FILIP1	27145	broad.mit.edu	37	6	76124424	76124424	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:76124424C>A	ENST00000393004.2	-	2	486	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	FILIP1_ENST00000237172.7_Missense_Mutation_p.G89W			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	89				ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589).						breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGCAACTCCCCTTCCATTATA	0.383													7	489	---	---	---	---	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86324701	86324701	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:86324701C>A	ENST00000355238.6	-	11	1851	c.1645G>T	c.(1645-1647)Ggg>Tgg	p.G549W	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G549W|RP11-321N4.5_ENST00000503906.1_Silent_p.A84A	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	549	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCACGTACCCCGCGGCCTCTT	0.602													6	298	---	---	---	---	0	0
ZNF292	23036	broad.mit.edu	37	6	87943065	87943065	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:87943065G>T	ENST00000369577.3	+	5	604	c.561G>T	c.(559-561)gaG>gaT	p.E187D	ZNF292_ENST00000339907.4_Missense_Mutation_p.E182D	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGCTTTTGAGGGTCCCATCT	0.303													4	103	---	---	---	---	0	0
MDN1	23195	broad.mit.edu	37	6	90424370	90424370	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:90424370G>T	ENST00000369393.3	-	46	7076	c.6961C>A	c.(6961-6963)Cca>Aca	p.P2321T	MDN1_ENST00000428876.1_Missense_Mutation_p.P2321T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2321					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGTTGTCTGGGGTGCTTGCA	0.493													5	168	---	---	---	---	0	0
SIM1	6492	broad.mit.edu	37	6	100841442	100841442	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:100841442G>T	ENST00000369208.3	-	11	2273	c.1491C>A	c.(1489-1491)ccC>ccA	p.P497P	SIM1_ENST00000262901.4_Silent_p.P497P			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	497	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCTTTGTCAGGGGCAAGGCTG	0.612													6	155	---	---	---	---	0	0
ARMC2	84071	broad.mit.edu	37	6	109215669	109215669	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:109215669G>T	ENST00000392644.4	+	6	839		c.e6-1		ARMC2_ENST00000368972.3_Splice_Site	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2								binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ATTCCTCCTAGGGACCAGGGG	0.453													5	150	---	---	---	---	0	0
MICAL1	64780	broad.mit.edu	37	6	109768401	109768401	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:109768401C>A	ENST00000368952.4	-	17	2449	c.2159G>T	c.(2158-2160)gGg>gTg	p.G720V	MICAL1_ENST00000358577.3_Missense_Mutation_p.G615V|MICAL1_ENST00000358807.3_Missense_Mutation_p.G701V			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	701	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GAGGTGTTCCCCACAAAGTGC	0.612													5	123	---	---	---	---	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746101	110746101	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:110746101G>T	ENST00000368919.3	-	8	1775	c.1709C>A	c.(1708-1710)cCc>cAc	p.P570H	SLC22A16_ENST00000330550.4_Missense_Mutation_p.P536H	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	570					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		AGAATCCCTGGGGGTAATCGC	0.418													6	302	---	---	---	---	0	0
SLC16A10	117247	broad.mit.edu	37	6	111540220	111540220	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:111540220C>A	ENST00000368850.3	+	4	834	c.348C>A	c.(346-348)ccC>ccA	p.P116P	SLC16A10_ENST00000368851.5_Silent_p.P430P			Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	430					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TGTCTATACCCATGACTGTTG	0.393													4	123	---	---	---	---	0	0
COL10A1	1300	broad.mit.edu	37	6	116446572	116446572	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:116446572G>T	ENST00000327673.4	-	1	491	c.84C>A	c.(82-84)ccC>ccA	p.P28P	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.P28P			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	28	Nonhelical region (NC2).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TTATGCCTGTGGGCATTTGGT	0.393													7	499	---	---	---	---	0	0
FAM26E	254228	broad.mit.edu	37	6	116832984	116832984	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:116832984C>A	ENST00000368599.3	+	1	176	c.125C>A	c.(124-126)cCc>cAc	p.P42H	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	42						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTTAAGTGCCCCTGCAGCACT	0.468													6	224	---	---	---	---	0	0
LAMA2	3908	broad.mit.edu	37	6	129785457	129785457	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:129785457G>T	ENST00000421865.2	+	50	7064	c.7015G>T	c.(7015-7017)Ggg>Tgg	p.G2339W		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2339					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGATAGTGAGGGGACTATTCA	0.418													8	272	---	---	---	---	0	0
LAMA2	3908	broad.mit.edu	37	6	129837448	129837448	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:129837448C>A	ENST00000421865.2	+	65	9374	c.9325C>A	c.(9325-9327)Ctg>Atg	p.L3109M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3109	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCCAAGGCCCTGGAACTGAG	0.468													4	92	---	---	---	---	0	0
CTAGE9	643854	broad.mit.edu	37	6	132030025	132030025	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:132030025C>A	ENST00000314099.8	-	1	2181	c.2133G>T	c.(2131-2133)agG>agT	p.R711S	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	711	Pro-rich.					integral to membrane				endometrium(1)|lung(1)	2						TGAATGGGCCCCTTGTATCCA	0.522													8	288	---	---	---	---	0	0
ENPP3	5169	broad.mit.edu	37	6	132047228	132047228	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:132047228G>T	ENST00000414305.1	+	21	2169	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	ENPP3_ENST00000357639.3_Missense_Mutation_p.R614M|ENPP3_ENST00000358229.5_Missense_Mutation_p.R614M			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	614	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGGAGGCCTAGGGTACTGCAG	0.388													5	216	---	---	---	---	0	0
KIAA1244	57221	broad.mit.edu	37	6	138583871	138583871	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:138583871G>T	ENST00000251691.4	+	12	1417	c.1251G>T	c.(1249-1251)aaG>aaT	p.K417N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	417					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CATGCATCAAGGGTGGCATCG	0.488													5	199	---	---	---	---	0	0
GPR126	0	broad.mit.edu	37	6	142736944	142736944	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:142736944G>T	ENST00000230173.6	+	20	3157	c.2681G>T	c.(2680-2682)aGg>aTg	p.R894M	GPR126_ENST00000367609.3_Missense_Mutation_p.R894M|GPR126_ENST00000367608.2_Missense_Mutation_p.R866M|GPR126_ENST00000296932.8_Missense_Mutation_p.R866M	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	894					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAATTGCGAAGGGATTATCCC	0.393													5	203	---	---	---	---	0	0
SHPRH	257218	broad.mit.edu	37	6	146276179	146276179	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:146276179G>T	ENST00000367503.3	-	2	678	c.280C>A	c.(280-282)Cct>Act	p.P94T	SHPRH_ENST00000438092.2_Missense_Mutation_p.P94T|SHPRH_ENST00000275233.7_Missense_Mutation_p.P94T|SHPRH_ENST00000367505.2_Missense_Mutation_p.P94T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	94					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACAGACAAAGGGGAAAAAATA	0.363													6	311	---	---	---	---	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161652	151161652	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:151161652C>A	ENST00000367328.1	+	17	4090	c.3778C>A	c.(3778-3780)Caa>Aaa	p.Q1260K	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.Q1260K	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1260					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTTAAATGCCCAAATTGCAAC	0.403													5	174	---	---	---	---	0	0
SYNE1	23345	broad.mit.edu	37	6	152708417	152708417	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:152708417G>T	ENST00000367255.5	-	54	8878	c.8277C>A	c.(8275-8277)ccC>ccA	p.P2759P	SYNE1_ENST00000423061.1_Silent_p.P2766P|SYNE1_ENST00000448038.1_Silent_p.P2766P|SYNE1_ENST00000341594.5_Silent_p.P2798P|SYNE1_ENST00000265368.4_Silent_p.P2759P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2759					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGGTTGTAAGGGATGTTCTA	0.478										HNSCC(10;0.0054)			6	239	---	---	---	---	0	0
LPAL2	0	broad.mit.edu	37	6	160905230	160905230	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:160905230G>T	ENST00000335388.5	-	0	897					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GTAACACCAAGGGCCTTCCAC	0.498													4	82	---	---	---	---	0	0
FAM120B	84498	broad.mit.edu	37	6	170627813	170627813	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:170627813C>A	ENST00000476287.1	+	2	1443	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P	FAM120B_ENST00000537664.1_Silent_p.P468P|FAM120B_ENST00000540480.1_Silent_p.P457P|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	445					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ACTCTGAACCCAGGCAAGAAG	0.498													7	568	---	---	---	---	0	0
CARD11	84433	broad.mit.edu	37	7	2985561	2985561	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:2985561C>A	ENST00000396946.4	-	4	653	c.250G>T	c.(250-252)Ggg>Tgg	p.G84W	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	84	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCCTTTGCCCCTTGGTATGT	0.493			Mis		DLBCL								6	386	---	---	---	---	0	0
COL28A1	340267	broad.mit.edu	37	7	7557428	7557428	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:7557428C>A	ENST00000399429.3	-	7	994	c.854G>T	c.(853-855)gGg>gTg	p.G285V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	285					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGTACATACCCCTGGACCTCT	0.433													7	349	---	---	---	---	0	0
C7orf31	136895	broad.mit.edu	37	7	25194743	25194743	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:25194743G>T	ENST00000409280.1	-	6	790	c.482C>A	c.(481-483)cCc>cAc	p.P161H	C7orf31_ENST00000283905.3_Missense_Mutation_p.P161H			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	161										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CGTGAAGGTGGGGAACATGGC	0.502													4	79	---	---	---	---	0	0
FKBP14	55033	broad.mit.edu	37	7	30065991	30065991	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:30065991C>A	ENST00000222803.5	-	1	309	c.134G>T	c.(133-135)gGg>gTg	p.G45V		NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	45	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CATCAAATCCCCTCCTTTGGT	0.433													6	273	---	---	---	---	0	0
AVL9	23080	broad.mit.edu	37	7	32582773	32582773	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:32582773C>A	ENST00000318709.4	+	2	335	c.114C>A	c.(112-114)ccC>ccA	p.P38P	AVL9_ENST00000409301.1_Silent_p.P38P|AVL9_ENST00000404479.1_Silent_p.P38P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	38						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTTACCCGCCCCTGATTCCAG	0.423													8	342	---	---	---	---	0	0
HERPUD2	64224	broad.mit.edu	37	7	35674969	35674969	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:35674969G>T	ENST00000396081.1	-	6	1521	c.717C>A	c.(715-717)ccC>ccA	p.P239P	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.P239P	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	239					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GAGCTGGTGGGGGTTCTTCTC	0.473													7	327	---	---	---	---	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279465	73279465	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:73279465C>A	ENST00000320531.2	+	2	251	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	72						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCAGCCTGCCCCCTGGGCCAG	0.667													8	198	---	---	---	---	0	0
LAT2	7462	broad.mit.edu	37	7	73635998	73635998	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:73635998G>T	ENST00000460943.1	+	10	1253	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W	LAT2_ENST00000275635.7_Missense_Mutation_p.G122W|LAT2_ENST00000344995.5_Missense_Mutation_p.G122W|LAT2_ENST00000398475.1_Missense_Mutation_p.G122W	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	122					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						TTACAACTGGGGGCGGTTCTC	0.577													5	187	---	---	---	---	0	0
RFC2	5982	broad.mit.edu	37	7	73661093	73661093	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:73661093C>A	ENST00000055077.3	-	5	393	c.333G>T	c.(331-333)agG>agT	p.R111S	RFC2_ENST00000352131.3_Intron	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	111					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CGTCAATGCCCCTGAAAGAAT	0.418													5	181	---	---	---	---	0	0
PCLO	27445	broad.mit.edu	37	7	82545722	82545722	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:82545722G>T	ENST00000333891.9	-	7	11917	c.11580C>A	c.(11578-11580)ccC>ccA	p.P3860P	PCLO_ENST00000437081.1_Silent_p.P580P|PCLO_ENST00000423517.2_Silent_p.P3860P	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTCAGTTTGGGGAGCAGTTC	0.463													10	496	---	---	---	---	0	0
CPSF4	10898	broad.mit.edu	37	7	99051673	99051673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:99051673C>A	ENST00000436336.2	+	7	741	c.580C>A	c.(580-582)Ccg>Acg	p.P194T	CPSF4_ENST00000451876.1_Missense_Mutation_p.P161T|CPSF4_ENST00000441580.1_Missense_Mutation_p.P141T|ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Missense_Mutation_p.P219T|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000466753.1_Intron	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	219					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	p.P219T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAGAGAACCCCGCAGGTCAT	0.557													8	367	---	---	---	---	0	0
ZNF789	285989	broad.mit.edu	37	7	99084289	99084289	+	Missense_Mutation	SNP	G	G	T	rs139820028		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:99084289G>T	ENST00000331410.5	+	5	726	c.456G>T	c.(454-456)agG>agT	p.R152S	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AATACAGCAGGGGCTTCCTTC	0.413													5	191	---	---	---	---	0	0
ZNF394	84124	broad.mit.edu	37	7	99091246	99091246	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:99091246C>A	ENST00000337673.6	-	3	1795	c.1592G>T	c.(1591-1593)gGg>gTg	p.G531V	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	531					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAATCTTTCCCCACATTCAAG	0.458													6	391	---	---	---	---	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99117481	99117481	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:99117481C>A	ENST00000394170.2	+	4	836	c.585C>A	c.(583-585)ccC>ccA	p.P195P	ZKSCAN5_ENST00000326775.5_Silent_p.P195P|ZKSCAN5_ENST00000451158.1_Silent_p.P195P	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	195					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTTCCCTTCCCCTGAAGGACA	0.532													5	136	---	---	---	---	0	0
AGFG2	3268	broad.mit.edu	37	7	100151028	100151028	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100151028C>A	ENST00000300176.4	+	4	612	c.490C>A	c.(490-492)Cct>Act	p.P164T	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	164					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCCTCCACCCCTGTGCAGGG	0.552													5	183	---	---	---	---	0	0
ZAN	7455	broad.mit.edu	37	7	100352869	100352869	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100352869C>A	ENST00000542585.1	+	0	3293				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCAAATGCCCGCTACGAATC	0.572													8	319	---	---	---	---	0	0
MUC3A	4584	broad.mit.edu	37	7	100549663	100549663	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100549663C>A	ENST00000379458.4	+	2	244	c.244C>A	c.(244-246)Ccc>Acc	p.P82T	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CACTACCTCCCCCCATGACAC	0.557													5	163	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100675141	100675141	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100675141C>A	ENST00000306151.4	+	3	508	c.444C>A	c.(442-444)ccC>ccA	p.P148P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	148	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGACGTGCCCATGTCAACAC	0.458													7	318	---	---	---	---	0	0
COG5	0	broad.mit.edu	37	7	107188737	107188737	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:107188737C>A	ENST00000393603.2	-	4	697	c.426G>T	c.(424-426)caG>caT	p.Q142H	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.Q142H|COG5_ENST00000347053.3_Missense_Mutation_p.Q142H	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	142					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CAACAGCTCCCTGTAAAGCCC	0.348													8	459	---	---	---	---	0	0
CBLL1	79872	broad.mit.edu	37	7	107395935	107395935	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:107395935G>T	ENST00000440859.3	+	5	906	c.439G>T	c.(439-441)Ggc>Tgc	p.G147C	CBLL1_ENST00000222597.2_Splice_Site_p.G146C|CBLL1_ENST00000415884.2_Intron	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase						cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GATGTGTCCAGGGTAAGATAA	0.313													6	284	---	---	---	---	0	0
TMEM168	64418	broad.mit.edu	37	7	112423930	112423930	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:112423930C>A	ENST00000312814.6	-	2	1511	c.951G>T	c.(949-951)tgG>tgT	p.W317C	TMEM168_ENST00000454074.1_Missense_Mutation_p.W317C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TATGGAATCCCCAAAGAGTTA	0.353													8	416	---	---	---	---	0	0
CAV2	858	broad.mit.edu	37	7	116146187	116146187	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:116146187C>A	ENST00000343213.2	+	2	355	c.313C>A	c.(313-315)Cca>Aca	p.P105T	CAV2_ENST00000222693.4_3'UTR	NM_198212.2	NP_937855.1	P51636	CAV2_HUMAN	caveolin 2	0					caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			TACTTGGACCCCAGGTCTGGA	0.408													5	186	---	---	---	---	0	0
MET	0	broad.mit.edu	37	7	116435754	116435754	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:116435754C>A	ENST00000397752.3	+	20	4044	c.3844C>A	c.(3844-3846)Cca>Aca	p.P1282T	MET_ENST00000539704.1_Missense_Mutation_p.P152T|MET_ENST00000318493.6_Missense_Mutation_p.P1300T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1282	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAGAGGAGCCCCACCTTATCC	0.463			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	392	---	---	---	---	0	0
AASS	10157	broad.mit.edu	37	7	121731808	121731808	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:121731808C>A	ENST00000393376.1	-	17	2060	c.1965G>T	c.(1963-1965)gtG>gtT	p.V655V	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.V655V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	655	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCAAAACTCCCACTGGACTCC	0.398													4	90	---	---	---	---	0	0
CNOT4	4850	broad.mit.edu	37	7	135047678	135047678	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:135047678G>T	ENST00000541284.1	-	12	2431	c.2101C>A	c.(2101-2103)Ccc>Acc	p.P701T	CNOT4_ENST00000361528.4_Missense_Mutation_p.P627T|CNOT4_ENST00000451834.1_Missense_Mutation_p.P698T|CNOT4_ENST00000423368.2_Missense_Mutation_p.P630T	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	370					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AAATCTGTGGGGGTTTTGCTG	0.527													9	509	---	---	---	---	0	0
BRAF	673	broad.mit.edu	37	7	140434425	140434425	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:140434425C>A	ENST00000288602.6	-	18	2333	c.2273G>T	c.(2272-2274)gGg>gTg	p.G758V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	758					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ACCATATCCCCCTGCCTGGAT	0.438		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	752	---	---	---	---	0	0
WEE2	494551	broad.mit.edu	37	7	141408679	141408679	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:141408679C>A	ENST00000397541.2	+	1	527	c.121C>A	c.(121-123)Cca>Aca	p.P41T	WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	41					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GAGCCAAACCCCAGAGAAGGG	0.473													6	277	---	---	---	---	0	0
MGAM	8972	broad.mit.edu	37	7	141758042	141758042	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:141758042G>T	ENST00000475668.2	+	31	3787	c.3733G>T	c.(3733-3735)Ggg>Tgg	p.G1245W	MGAM_ENST00000549489.2_Missense_Mutation_p.G1245W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1245	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.G1245W(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGGTCTTTGGGGTTCCAGCT	0.463													9	597	---	---	---	---	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140817	143140817	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:143140817C>A	ENST00000332690.1	+	1	272	c.272C>A	c.(271-273)cCt>cAt	p.P91H	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	91					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.P91L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCATACAACCCTGTACTGCAG	0.478													7	296	---	---	---	---	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141423	143141423	+	Missense_Mutation	SNP	C	C	A	rs144018396	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:143141423C>A	ENST00000332690.1	+	1	878	c.878C>A	c.(877-879)cCc>cAc	p.P293H	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	293					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCAGTTCACCCCATCATTCTG	0.493													7	326	---	---	---	---	0	0
OR2A14	135941	broad.mit.edu	37	7	143827062	143827062	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:143827062C>A	ENST00000408899.2	+	1	912	c.857C>A	c.(856-858)cCc>cAc	p.P286H		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ATGCTGAACCCCCTGATATAT	0.542													8	362	---	---	---	---	0	0
ZNF425	155054	broad.mit.edu	37	7	148800929	148800929	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:148800929C>A	ENST00000378061.2	-	4	2166	c.2034G>T	c.(2032-2034)agG>agT	p.R678S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	678					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCAAGCTGCCCCTGATGCAGT	0.552													6	239	---	---	---	---	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963960	148963960	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:148963960G>T	ENST00000434415.1	+	3	634	c.471G>T	c.(469-471)tgG>tgT	p.W157C		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	157					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AGCTGGAGTGGGGCAAGCTGG	0.592													6	263	---	---	---	---	0	0
NOS3	4846	broad.mit.edu	37	7	150696367	150696367	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:150696367C>A	ENST00000297494.3	+	9	1403	c.1046C>A	c.(1045-1047)cCc>cAc	p.P349H	NOS3_ENST00000484524.1_Missense_Mutation_p.P349H|NOS3_ENST00000461406.1_Missense_Mutation_p.P143H|NOS3_ENST00000467517.1_Missense_Mutation_p.P349H	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	349	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CTGGAGTTCCCCGCAGCCCCC	0.632													5	164	---	---	---	---	0	0
NCAPG2	54892	broad.mit.edu	37	7	158451099	158451099	+	Splice_Site	SNP	T	T	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:158451099T>A	ENST00000409339.3	-	17	2104	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V	NCAPG2_ENST00000409423.1_Splice_Site_p.D664V|NCAPG2_ENST00000356309.3_Splice_Site_p.D664V|NCAPG2_ENST00000541468.1_Splice_Site_p.D165V|NCAPG2_ENST00000275830.10_Splice_Site_p.D456V|NCAPG2_ENST00000449727.2_Splice_Site_p.D664V	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	664					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	p.D664V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCAGCGATCATCCTAAAAGCG	0.383													14	31	---	---	---	---	0	0
CSMD1	64478	broad.mit.edu	37	8	2830703	2830703	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:2830703C>A	ENST00000602557.1	-	58	9417	c.8862G>T	c.(8860-8862)agG>agT	p.R2954S	CSMD1_ENST00000602723.1_Missense_Mutation_p.R2896S|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2953S|CSMD1_ENST00000520002.1_Missense_Mutation_p.R2954S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2896S|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2895S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2954	Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGGGAGCCCCTCAGCTGGT	0.567													5	112	---	---	---	---	0	0
SGK223	0	broad.mit.edu	37	8	8185557	8185557	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:8185557C>A	ENST00000520004.1	-	5	2999	c.2735G>T	c.(2734-2736)gGg>gTg	p.G912V	SGK223_ENST00000330777.4_Missense_Mutation_p.G912V			Q86YV5	SG223_HUMAN		912							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGAGGGGGCCCCTTTGCACTG	0.662													4	51	---	---	---	---	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20072428	20072428	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:20072428G>T	ENST00000276390.2	+	10	1067	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	343					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		GCGAGTGGAAGGGAGAAACGG	0.438													5	110	---	---	---	---	0	0
CDCA2	157313	broad.mit.edu	37	8	25327468	25327468	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:25327468C>A	ENST00000330560.3	+	7	1269	c.792C>A	c.(790-792)ccC>ccA	p.P264P	CDCA2_ENST00000380665.3_Silent_p.P249P	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	264					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGTCTCTTCCCCTTTCAGAGC	0.348													5	185	---	---	---	---	0	0
RNF122	79845	broad.mit.edu	37	8	33408563	33408563	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:33408563C>A	ENST00000256257.1	-	4	670	c.269G>T	c.(268-270)gGg>gTg	p.G90V		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	90						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CACACTTACCCCATATAATTG	0.512													7	348	---	---	---	---	0	0
GOT1L1	137362	broad.mit.edu	37	8	37793285	37793285	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:37793285G>T	ENST00000307599.4	-	7	965	c.866C>A	c.(865-867)cCc>cAc	p.P289H	GOT1L1_ENST00000518826.1_Missense_Mutation_p.P30H	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	289					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CGTGTTGGGGGGGTTTAGCCA	0.602													4	36	---	---	---	---	0	0
DDHD2	23259	broad.mit.edu	37	8	38109666	38109666	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:38109666C>A	ENST00000397166.2	+	13	2003	c.1478C>A	c.(1477-1479)cCc>cAc	p.P493H	DDHD2_ENST00000520272.2_Missense_Mutation_p.P493H|DDHD2_ENST00000517385.1_Missense_Mutation_p.P112H|DDHD2_ENST00000529845.1_5'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	493					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GTGAAATACCCCCGGCTCATC	0.383													8	320	---	---	---	---	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38205040	38205040	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:38205040G>T	ENST00000317025.8	-	2	1167	c.650C>A	c.(649-651)cCc>cAc	p.P217H	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P217H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P217H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P217H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	217					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTCTAATTTGGGGATTTTGTG	0.343			T	NUP98	AML								6	322	---	---	---	---	0	0
RP1	6101	broad.mit.edu	37	8	55541471	55541471	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:55541471G>T	ENST00000220676.1	+	4	5177	c.5029G>T	c.(5029-5031)Ggg>Tgg	p.G1677W		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1677					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGATTCTGAAGGGCAGTCATT	0.413													8	581	---	---	---	---	0	0
TGS1	96764	broad.mit.edu	37	8	56723475	56723475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:56723475C>A	ENST00000260129.5	+	11	2656	c.2179C>A	c.(2179-2181)Ctt>Att	p.L727I		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	727	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TAAGATTGCCCTTGCTCGCAA	0.353													8	580	---	---	---	---	0	0
LYN	4067	broad.mit.edu	37	8	56863046	56863046	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:56863046C>A	ENST00000520220.2	+	5	524	c.250C>A	c.(250-252)Ctt>Att	p.L84I	LYN_ENST00000519728.1_Missense_Mutation_p.L105I	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	105	SH3.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AGCAAAGTCCCTTTTAACAAA	0.388													8	621	---	---	---	---	0	0
CHD7	55636	broad.mit.edu	37	8	61654708	61654708	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:61654708C>A	ENST00000423902.2	+	2	1196	c.717C>A	c.(715-717)ccC>ccA	p.P239P	CHD7_ENST00000524602.1_Silent_p.P239P|CHD7_ENST00000525508.1_Silent_p.P239P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	239					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCACGTGCCCCAGCAGAGTC	0.577													6	231	---	---	---	---	0	0
CHD7	55636	broad.mit.edu	37	8	61773508	61773508	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:61773508C>A	ENST00000423902.2	+	35	8133	c.7654C>A	c.(7654-7656)Cca>Aca	p.P2552T	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2552					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TATAGAGACCCCACCAACAAG	0.488													6	192	---	---	---	---	0	0
CSPP1	79848	broad.mit.edu	37	8	68028335	68028335	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:68028335C>A	ENST00000262210.5	+	11	1490	c.1459C>A	c.(1459-1461)Ctt>Att	p.L487I	CSPP1_ENST00000412460.1_Missense_Mutation_p.L193I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	522	Pro-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAGCAGCGCCCTTGGTGAAAT	0.443													8	254	---	---	---	---	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68204210	68204210	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:68204210C>A	ENST00000262215.3	-	6	1177	c.788G>T	c.(787-789)gGg>gTg	p.G263V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	263					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTCAAGGTCCCCTTCGTGTTC	0.423													8	568	---	---	---	---	0	0
C8orf34	116328	broad.mit.edu	37	8	69434117	69434117	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:69434117C>A	ENST00000337103.4	+	5	2108	c.516C>A	c.(514-516)ccC>ccA	p.P172P	C8orf34_ENST00000539993.1_Silent_p.P197P|C8orf34_ENST00000518698.1_Silent_p.P283P|C8orf34_ENST00000348340.2_Silent_p.P197P|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	197					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATGCTGATCCCCTAGCTGCTG	0.443													6	186	---	---	---	---	0	0
NCOA2	10499	broad.mit.edu	37	8	71128949	71128949	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:71128949G>T	ENST00000452400.2	-	3	213	c.32C>A	c.(31-33)cCc>cAc	p.P11H		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	11					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGCCCTGGAGGGGTCAGAGGT	0.433			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								6	356	---	---	---	---	0	0
STAU2	27067	broad.mit.edu	37	8	74495061	74495061	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:74495061C>A	ENST00000355780.5	-	11	1288	c.1070G>T	c.(1069-1071)gGg>gTg	p.G357V	STAU2_ENST00000522695.1_Missense_Mutation_p.G357V|STAU2_ENST00000522509.1_Missense_Mutation_p.G357V|STAU2_ENST00000523558.1_Missense_Mutation_p.G217V|STAU2_ENST00000517542.1_Missense_Mutation_p.G351V|STAU2_ENST00000524300.1_Missense_Mutation_p.G389V|STAU2_ENST00000521451.1_Missense_Mutation_p.G169V|STAU2_ENST00000519961.1_Missense_Mutation_p.G389V|STAU2_ENST00000521727.1_Missense_Mutation_p.G369V|STAU2_ENST00000521210.1_Missense_Mutation_p.G285V	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	389	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTTGTTTTCCCCTGTCTGAAA	0.368													8	372	---	---	---	---	0	0
FABP9	646480	broad.mit.edu	37	8	82371443	82371443	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:82371443C>A	ENST00000379071.2	-	2	258	c.203G>T	c.(202-204)gGg>gTg	p.G68V	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	68							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			AAATTCTTCCCCCAGCTTGAA	0.403													8	500	---	---	---	---	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87126083	87126083	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:87126083C>A	ENST00000285393.3	+	2	418	c.276C>A	c.(274-276)ccC>ccA	p.P92P	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	92					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CCCTGGAGCCCCTCAGCACAT	0.438													9	459	---	---	---	---	0	0
VPS13B	157680	broad.mit.edu	37	8	100883834	100883834	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:100883834C>A	ENST00000358544.2	+	61	11840	c.11729C>A	c.(11728-11730)cCc>cAc	p.P3910H	VPS13B_ENST00000357162.2_Missense_Mutation_p.P3885H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3910					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGGCCTTCCCCGTCACAGAA	0.557													6	262	---	---	---	---	0	0
GRHL2	79977	broad.mit.edu	37	8	102570793	102570793	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:102570793C>A	ENST00000251808.3	+	4	769	c.431C>A	c.(430-432)cCc>cAc	p.P144H	GRHL2_ENST00000395927.1_Missense_Mutation_p.P128H	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	144						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATCAGCTTCCCCGAGAGCTCT	0.522													7	299	---	---	---	---	0	0
NCALD	83988	broad.mit.edu	37	8	102731682	102731682	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:102731682C>A	ENST00000395923.1	-	4	635	c.176G>T	c.(175-177)gGg>gTg	p.G59V	NCALD_ENST00000311028.3_Missense_Mutation_p.G59V|NCALD_ENST00000519508.2_Missense_Mutation_p.G59V|NCALD_ENST00000521599.1_Missense_Mutation_p.G59V|NCALD_ENST00000220931.6_Missense_Mutation_p.G59V|NCALD_ENST00000522951.1_Missense_Mutation_p.G59V	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	59					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			GGAAGCATCCCCATAAGGGAA	0.423													7	562	---	---	---	---	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811108	106811108	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:106811108C>A	ENST00000407775.2	+	7	1146	c.896C>A	c.(895-897)cCc>cAc	p.P299H	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P167H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P30H|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P167H|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	299					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCCTGTGCCCCTTCCCACAG	0.498													7	316	---	---	---	---	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815538	106815538	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:106815538C>A	ENST00000407775.2	+	8	3478	c.3228C>A	c.(3226-3228)ccC>ccA	p.P1076P	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.P944P|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.P807P|ZFPM2_ENST00000517361.1_Silent_p.P944P|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1076					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACAAATCTCCCTCGTGGATCT	0.478													4	74	---	---	---	---	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412391	110412391	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:110412391G>T	ENST00000378402.5	+	13	1203	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	367					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAAAACGCCTGGGTACATGGG	0.448										HNSCC(38;0.096)			8	665	---	---	---	---	0	0
TAF2	6873	broad.mit.edu	37	8	120759089	120759089	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:120759089G>T	ENST00000378164.2	-	23	3262	c.2964C>A	c.(2962-2964)ccC>ccA	p.P988P		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	988					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCTCTGGCAAGGGTAAACAGG	0.438													6	323	---	---	---	---	0	0
HAS2	3037	broad.mit.edu	37	8	122626619	122626619	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:122626619C>A	ENST00000303924.4	-	4	1926	c.1389G>T	c.(1387-1389)tgG>tgT	p.W463C		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	463						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGATGTGCCCCACCCAGCTT	0.408													8	538	---	---	---	---	0	0
ZHX2	22882	broad.mit.edu	37	8	123964946	123964946	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:123964946G>T	ENST00000314393.4	+	3	2031	c.1196G>T	c.(1195-1197)gGa>gTa	p.G399V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	399	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G399V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCGTGGCAGGAGTCACCAAC	0.627													25	57	---	---	---	---	0	0
TBC1D31	93594	broad.mit.edu	37	8	124096568	124096568	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:124096568G>T	ENST00000287380.1	+	4	597	c.507G>T	c.(505-507)gtG>gtT	p.V169V	TBC1D31_ENST00000309336.3_Silent_p.V169V|TBC1D31_ENST00000522420.1_Silent_p.V64V|TBC1D31_ENST00000521676.1_Silent_p.V64V|TBC1D31_ENST00000327098.5_Silent_p.V169V|TBC1D31_ENST00000378080.2_Silent_p.V64V	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		GCCAGTCTGTGGGTATACAGA	0.413													6	303	---	---	---	---	0	0
ANXA13	312	broad.mit.edu	37	8	124693587	124693587	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:124693587C>A	ENST00000262219.6	-	12	1034	c.967G>T	c.(967-969)Ggg>Tgg	p.G323W	ANXA13_ENST00000419625.1_Missense_Mutation_p.G282W	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	282					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTTTGATCCCCTGAAGGTCC	0.443													8	494	---	---	---	---	0	0
FER1L6	654463	broad.mit.edu	37	8	124992823	124992823	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:124992823G>T	ENST00000522917.1	+	11	1388	c.1182G>T	c.(1180-1182)agG>agT	p.R394S	FER1L6_ENST00000399018.1_Missense_Mutation_p.R394S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	394						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGTCATTCAGGGGCAGAATCT	0.512											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	352	---	---	---	---	0	0
ASAP1	50807	broad.mit.edu	37	8	131138263	131138263	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:131138263C>A	ENST00000357668.1	-	16	1481	c.1454G>T	c.(1453-1455)gGg>gTg	p.G485V	ASAP1_ENST00000518721.1_Missense_Mutation_p.G485V			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	485	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AATATGAACCCCCATTTCCCT	0.398													6	308	---	---	---	---	0	0
ZFAT	57623	broad.mit.edu	37	8	135524772	135524772	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:135524772C>A	ENST00000520727.1	-	15	3570	c.3271G>T	c.(3271-3273)Ggg>Tgg	p.G1091W	ZFAT_ENST00000429442.2_Missense_Mutation_p.G1091W|ZFAT_ENST00000377838.3_Missense_Mutation_p.G1103W|ZFAT_ENST00000520214.1_Missense_Mutation_p.G1091W|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.G1041W	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCCTGTGTCCCTTGAACGTCT	0.527													8	498	---	---	---	---	0	0
COL22A1	169044	broad.mit.edu	37	8	139737668	139737668	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:139737668G>T	ENST00000303045.6	-	24	2601	c.2155C>A	c.(2155-2157)Cct>Act	p.P719T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P719T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	719	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGACACCAGGGGGTCCTGGA	0.582										HNSCC(7;0.00092)			7	229	---	---	---	---	0	0
RPL8	6132	broad.mit.edu	37	8	146015222	146015222	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:146015222C>A	ENST00000262584.3	-	6	973	c.741G>T	c.(739-741)cgG>cgT	p.R247R	RPL8_ENST00000394920.2_Silent_p.R247R|RPL8_ENST00000527914.1_Silent_p.R138R|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000528957.1_Silent_p.R247R	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	247					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		TCTTGGTTCCCCGGAGACGTC	0.587													9	493	---	---	---	---	0	0
DMRT2	10655	broad.mit.edu	37	9	1056357	1056357	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:1056357G>T	ENST00000382251.3	+	5	1099	c.770G>T	c.(769-771)aGg>aTg	p.R257M	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.R257M|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.R257M			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	257					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TATAAAGAAAGGGAGATGTTG	0.478													6	266	---	---	---	---	0	0
SMARCA2	6595	broad.mit.edu	37	9	2073246	2073246	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:2073246C>A	ENST00000382203.1	+	11	1990	c.1781C>A	c.(1780-1782)cCt>cAt	p.P594H	SMARCA2_ENST00000349721.2_Missense_Mutation_p.P594H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P594H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P594H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	594					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGTGACCTCCCTGTCAAAGTG	0.517													4	81	---	---	---	---	0	0
ERMP1	79956	broad.mit.edu	37	9	5811200	5811200	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:5811200G>T	ENST00000339450.5	-	7	1327	c.1238C>A	c.(1237-1239)cCc>cAc	p.P413H	ERMP1_ENST00000381506.3_Missense_Mutation_p.P189H|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	413					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AATACGAGAGGGGTAGGCAAT	0.418													6	185	---	---	---	---	0	0
PTPRD	5789	broad.mit.edu	37	9	8518276	8518276	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:8518276C>A	ENST00000381196.4	-	18	1658	c.1115G>T	c.(1114-1116)gGg>gTg	p.G372V	PTPRD_ENST00000537002.1_Missense_Mutation_p.G369V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G369V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G372V|PTPRD_ENST00000486161.1_Missense_Mutation_p.G372V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G362V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G359V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G359V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G362V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G372V|PTPRD_ENST00000356435.5_Missense_Mutation_p.G372V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	372	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTCGCCACCCCATCAATTTC	0.478										TSP Lung(15;0.13)			8	252	---	---	---	---	0	0
MPDZ	8777	broad.mit.edu	37	9	13168467	13168467	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:13168467C>A	ENST00000319217.7	-	22	3399	c.3152G>T	c.(3151-3153)gGg>gTg	p.G1051V	MPDZ_ENST00000536827.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1051V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1051V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1051V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1051	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GATGCAGTCCCCAATGGCAAT	0.463													9	448	---	---	---	---	0	0
IFNA21	3452	broad.mit.edu	37	9	21166427	21166427	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:21166427G>T	ENST00000380225.1	-	1	232	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	62					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCCTCCTGGGGGAATCCAAA	0.512													7	314	---	---	---	---	0	0
ACO1	48	broad.mit.edu	37	9	32420870	32420870	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:32420870G>T	ENST00000309951.6	+	8	953	c.815G>T	c.(814-816)gGg>gTg	p.G272V	ACO1_ENST00000541043.1_Missense_Mutation_p.G173V|ACO1_ENST00000379923.1_Missense_Mutation_p.G272V	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGCCAGGTTGGGGTAGTGGGC	0.483													6	252	---	---	---	---	0	0
TAF1L	138474	broad.mit.edu	37	9	32631563	32631563	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:32631563C>A	ENST00000242310.4	-	1	4104	c.4015G>T	c.(4015-4017)Ggg>Tgg	p.G1339W		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1339					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATTTTGGTCCCTTCAACCTTG	0.428													11	620	---	---	---	---	0	0
TAF1L	138474	broad.mit.edu	37	9	32633778	32633778	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:32633778C>A	ENST00000242310.4	-	1	1889	c.1800G>T	c.(1798-1800)cgG>cgT	p.R600R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	600					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAAAGGTGCCCCGAAGACCCT	0.488													7	405	---	---	---	---	0	0
PRSS3	5646	broad.mit.edu	37	9	33796754	33796754	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:33796754C>A	ENST00000361005.5	+	2	325	c.325C>A	c.(325-327)Ctc>Atc	p.L109I	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.L45I|PRSS3_ENST00000342836.4_Missense_Mutation_p.L66I|PRSS3_ENST00000379405.3_Missense_Mutation_p.L52I	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	109	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CGGTGGCTCCCTCATCAGCGA	0.572													5	156	---	---	---	---	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971620	34971620	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:34971620C>A	ENST00000242315.3	+	2	407	c.325C>A	c.(325-327)Cgg>Agg	p.R109R	KIAA1045_ENST00000544237.1_Silent_p.R109R|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	109							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCGCCCCACCCGGAAGCTGGA	0.602													5	255	---	---	---	---	0	0
CD72	971	broad.mit.edu	37	9	35618112	35618112	+	Missense_Mutation	SNP	C	C	A	rs150199723		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:35618112C>A	ENST00000396757.1	-	3	253	c.89G>T	c.(88-90)gGg>gTg	p.G30V	CD72_ENST00000378431.1_Missense_Mutation_p.G30V|CD72_ENST00000378430.3_Missense_Mutation_p.G30V|CD72_ENST00000259633.4_Missense_Mutation_p.G30V|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	30					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCATCAGCCCCTGGGTCTAG	0.557													6	279	---	---	---	---	0	0
SPAG8	26206	broad.mit.edu	37	9	35811260	35811260	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:35811260G>T	ENST00000340291.2	-	2	907	c.783C>A	c.(781-783)ccC>ccA	p.P261P	SPAG8_ENST00000396638.2_Silent_p.P261P|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Silent_p.P259P	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	261						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TAATGTCTGGGGGTTTCCATA	0.522													8	385	---	---	---	---	0	0
FBXO10	26267	broad.mit.edu	37	9	37541291	37541291	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:37541291C>A	ENST00000432825.2	-	2	523	c.475G>T	c.(475-477)Ggg>Tgg	p.G159W	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	159						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCCAACTTCCCCTGCCCTACA	0.562													7	240	---	---	---	---	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396013	38396013	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:38396013G>T	ENST00000377698.3	+	2	421	c.268G>T	c.(268-270)Ggg>Tgg	p.G90W		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	90					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CTTCCGCCTGGGGTCCCCATG	0.667													5	143	---	---	---	---	0	0
ZNF658	26149	broad.mit.edu	37	9	40773146	40773146	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:40773146C>A	ENST00000602553.1	-	5	2423	c.2129G>T	c.(2128-2130)gGg>gTg	p.G710V	ZNF658_ENST00000377626.3_Missense_Mutation_p.G710V|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGTTTCTCCCCCGTGTGAAT	0.403													12	854	---	---	---	---	0	0
APBA1	320	broad.mit.edu	37	9	72131016	72131016	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:72131016G>T	ENST00000265381.4	-	2	1333	c.1111C>A	c.(1111-1113)Ccc>Acc	p.P371T		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	371	Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGCTCGTCGGGGGTGTAAGGC	0.592													5	163	---	---	---	---	0	0
TRPM6	140803	broad.mit.edu	37	9	77365581	77365581	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:77365581G>T	ENST00000451710.3	-	30	5293	c.5056C>A	c.(5056-5058)Ctc>Atc	p.L1686I	TRPM6_ENST00000360774.1_Splice_Site_p.L1686M|TRPM6_ENST00000376872.3_Splice_Site_p.L637I|TRPM6_ENST00000361255.3_Splice_Site_p.L1681M|TRPM6_ENST00000449912.2_Splice_Site_p.L1681M|TRPM6_ENST00000376871.3_Splice_Site_p.L519I|TRPM6_ENST00000376864.4_Splice_Site_p.L1686I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1686					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L1686L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AATACTCACAGGGAGTTCCTA	0.393													5	139	---	---	---	---	0	0
FRMD3	257019	broad.mit.edu	37	9	85925435	85925435	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:85925435C>A	ENST00000304195.3	-	9	1008	c.802G>T	c.(802-804)Ggg>Tgg	p.G268W	FRMD3_ENST00000376438.1_Missense_Mutation_p.G268W|FRMD3_ENST00000376434.1_Missense_Mutation_p.G74W	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	268	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.G164W(1)|p.G268W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AATGTCTTCCCTTCAAACTTC	0.408													8	526	---	---	---	---	0	0
KIF27	55582	broad.mit.edu	37	9	86506251	86506251	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:86506251C>A	ENST00000297814.2	-	6	1911	c.1768G>T	c.(1768-1770)Ggg>Tgg	p.G590W	KIF27_ENST00000413982.1_Missense_Mutation_p.G590W|KIF27_ENST00000334204.2_Missense_Mutation_p.G590W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	590					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATATAATGCCCCAAATGAGTA	0.378													6	281	---	---	---	---	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88938005	88938005	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:88938005C>A	ENST00000277141.6	-	14	2951	c.527G>T	c.(526-528)gGg>gTg	p.G176V	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.G887V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.G764V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.G887V			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	887					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTCCTCATCCCCTGACCCAGT	0.463													7	293	---	---	---	---	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88960033	88960033	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:88960033G>T	ENST00000375961.2	-	5	1070	c.856C>A	c.(856-858)Cca>Aca	p.P286T	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.P286T|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.P286T|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.P119T			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	286					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GGTGTTGGTGGGGGTAACGTA	0.413													7	286	---	---	---	---	0	0
SECISBP2	79048	broad.mit.edu	37	9	91972384	91972384	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:91972384C>A	ENST00000375807.3	+	15	2243	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	SECISBP2_ENST00000339901.4_Silent_p.P651P|SECISBP2_ENST00000534113.2_Silent_p.P656P	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	724					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAACATTCCCTTTGTGTTTG	0.483													7	485	---	---	---	---	0	0
ASPN	54829	broad.mit.edu	37	9	95227269	95227269	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:95227269C>A	ENST00000375544.3	-	5	887	c.644G>T	c.(643-645)gGg>gTg	p.G215V	ASPN_ENST00000395538.3_Missense_Mutation_p.G215V|ASPN_ENST00000375543.1_Missense_Mutation_p.G215V|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	215					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TTCAAATGCCCCTGGCTCTAT	0.398													6	345	---	---	---	---	0	0
ECM2	1842	broad.mit.edu	37	9	95277239	95277239	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:95277239C>A	ENST00000344604.5	-	4	877	c.728G>T	c.(727-729)gGg>gTg	p.G243V	ECM2_ENST00000444490.2_Missense_Mutation_p.G221V|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	243					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCTGCTGTCCCCCTCACTGTA	0.527													10	676	---	---	---	---	0	0
ECM2	1842	broad.mit.edu	37	9	95277276	95277276	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:95277276G>T	ENST00000344604.5	-	4	840	c.691C>A	c.(691-693)Cct>Act	p.P231T	ECM2_ENST00000444490.2_Missense_Mutation_p.P209T|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	231					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CTAGATTCAGGGGTCTCTCTC	0.498													8	578	---	---	---	---	0	0
KLF4	9314	broad.mit.edu	37	9	110248118	110248118	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:110248118C>A	ENST00000374672.4	-	5	1827	c.1354G>T	c.(1354-1356)Ggg>Tgg	p.G452W		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	486					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGGCGGTGCCCCGTGTGTTTA	0.532													6	233	---	---	---	---	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625668	111625668	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:111625668G>T	ENST00000333999.3	+	1	1066	c.1066G>T	c.(1066-1068)Ggg>Tgg	p.G356W		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	356						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGACCTCATGGGGAACATCCT	0.577													5	170	---	---	---	---	0	0
PALM2-AKAP2	0	broad.mit.edu	37	9	112898575	112898575	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:112898575C>A	ENST00000374530.3	+	8	931	c.751C>A	c.(751-753)Cca>Aca	p.P251T	AKAP2_ENST00000555236.1_Missense_Mutation_p.P251T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P251T|AKAP2_ENST00000510514.5_Missense_Mutation_p.P251T|AKAP2_ENST00000259318.7_Missense_Mutation_p.P20T|AKAP2_ENST00000434623.2_Missense_Mutation_p.P109T|AKAP2_ENST00000374525.1_Missense_Mutation_p.P109T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		20							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CACCTCTACCCCACATCCCAT	0.498													7	350	---	---	---	---	0	0
PALM2-AKAP2	0	broad.mit.edu	37	9	112898615	112898615	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:112898615C>A	ENST00000374530.3	+	8	971	c.791C>A	c.(790-792)cCg>cAg	p.P264Q	AKAP2_ENST00000555236.1_Missense_Mutation_p.P264Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P264Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.P264Q|AKAP2_ENST00000259318.7_Missense_Mutation_p.P33Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.P122Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.P122Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		33							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TATTCACCCCCGCATAATGGC	0.488													5	340	---	---	---	---	0	0
PAPPA	5069	broad.mit.edu	37	9	118949849	118949849	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:118949849C>A	ENST00000328252.3	+	2	1201	c.832C>A	c.(832-834)Cac>Aac	p.H278N		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	278	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCATGGCGCCCACACTGCTCT	0.567													6	170	---	---	---	---	0	0
PAPPA	5069	broad.mit.edu	37	9	118974050	118974050	+	Missense_Mutation	SNP	C	C	A	rs146832580	by1000genomes	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:118974050C>A	ENST00000328252.3	+	4	2126	c.1757C>A	c.(1756-1758)cCc>cAc	p.P586H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	586					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGCAGTGACCCCTGCATGGAG	0.562													6	251	---	---	---	---	0	0
OR1J2	26740	broad.mit.edu	37	9	125273777	125273777	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125273777G>T	ENST00000335302.5	+	1	697	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTCAACCAAAGGGATCCACAA	0.498													6	224	---	---	---	---	0	0
OR1N2	138882	broad.mit.edu	37	9	125316129	125316129	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125316129C>A	ENST00000373688.2	+	1	739	c.681C>A	c.(679-681)ccC>ccA	p.P227P		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCACTGTTCCCCTCCTGCTGA	0.507													7	345	---	---	---	---	0	0
RC3H2	54542	broad.mit.edu	37	9	125622392	125622392	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125622392G>T	ENST00000373670.1	-	10	2253	c.1653C>A	c.(1651-1653)ccC>ccA	p.P551P	RC3H2_ENST00000423239.2_Silent_p.P551P|RC3H2_ENST00000357244.2_Silent_p.P551P			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	551						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CAGGAGTCTTGGGTGGAGAAC	0.393													6	295	---	---	---	---	0	0
RABGAP1	23637	broad.mit.edu	37	9	125760997	125760997	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125760997C>A	ENST00000373647.4	+	10	1460	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	442					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TATTCTGGCCCTTCAGCAAAC	0.373													6	264	---	---	---	---	0	0
GOLGA1	2800	broad.mit.edu	37	9	127652687	127652687	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:127652687C>A	ENST00000373555.4	-	16	1811	c.1478G>T	c.(1477-1479)aGg>aTg	p.R493M		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	493	Gln-rich.					Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAACTCTTCCCTTTGCTTCCG	0.582													7	145	---	---	---	---	0	0
RALGPS1	9649	broad.mit.edu	37	9	129930977	129930977	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:129930977C>A	ENST00000259351.5	+	10	1035	c.768C>A	c.(766-768)ccC>ccA	p.P256P	RALGPS1_ENST00000394022.3_Silent_p.P256P|RALGPS1_ENST00000373436.1_Silent_p.P256P|RALGPS1_ENST00000424082.2_Silent_p.P256P|RALGPS1_ENST00000373434.1_Silent_p.P256P	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	256	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CCACCCTGCCCCATGTGCAGA	0.478													6	280	---	---	---	---	0	0
NUP214	8021	broad.mit.edu	37	9	134090730	134090730	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:134090730G>T	ENST00000359428.5	+	31	5868	c.5724G>T	c.(5722-5724)ggG>ggT	p.G1908G	NUP214_ENST00000411637.2_Silent_p.G1898G|NUP214_ENST00000483497.2_Silent_p.G734G|NUP214_ENST00000451030.1_Silent_p.G1909G			P35658	NU214_HUMAN	nucleoporin 214kDa	1908	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CGGCCAGTGGGGGCTTTGGAT	0.507			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								5	151	---	---	---	---	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714837	138714837	+	Missense_Mutation	SNP	G	G	T	rs138818284	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:138714837G>T	ENST00000389532.4	-	11	1734	c.1670C>A	c.(1669-1671)cCg>cAg	p.P557Q	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P279Q|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P568Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	557						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGGGAACTCCGGGTCAGCCTG	0.577													5	366	---	---	---	---	0	0
SEC16A	9919	broad.mit.edu	37	9	139357510	139357510	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:139357510G>T	ENST00000313050.7	-	10	4795	c.4722C>A	c.(4720-4722)ccC>ccA	p.P1574P	SEC16A_ENST00000371706.3_Silent_p.P1396P|SEC16A_ENST00000431893.2_Silent_p.P1396P|SEC16A_ENST00000290037.6_Silent_p.P1396P	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1396					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTGCTTCATTGGGCGACTTCC	0.552													5	121	---	---	---	---	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331457	140331457	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:140331457C>A	ENST00000371506.2	-	5	602	c.419G>T	c.(418-420)aGg>aTg	p.R140M	ENTPD8_ENST00000344119.2_Missense_Mutation_p.R140M|ENTPD8_ENST00000472938.1_Missense_Mutation_p.R140M	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	140						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		AAAGATGTCCCTGGCCTGAGA	0.687													4	70	---	---	---	---	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262401	7262401	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:7262401C>A	ENST00000361972.4	-	11	1392	c.1302G>T	c.(1300-1302)aaG>aaT	p.K434N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K434N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	434					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTAGCCGCCCCTTCACACTCA	0.522													7	237	---	---	---	---	0	0
DHTKD1	55526	broad.mit.edu	37	10	12155041	12155041	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:12155041C>A	ENST00000263035.4	+	13	2359	c.2297C>A	c.(2296-2298)cCt>cAt	p.P766H		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	766					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GTTGCTTCCCCTAAGATGTTA	0.433													4	129	---	---	---	---	0	0
SEC61A2	55176	broad.mit.edu	37	10	12203061	12203061	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:12203061G>T	ENST00000379033.3	+	9	1189	c.1042G>T	c.(1042-1044)Ggg>Tgg	p.G348W	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.G370W|SEC61A2_ENST00000304267.8_Missense_Mutation_p.G370W|SEC61A2_ENST00000379020.4_Missense_Mutation_p.G304W	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	370						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CTTCATGTTGGGGTCATGTGC	0.423													6	231	---	---	---	---	0	0
SEPHS1	22929	broad.mit.edu	37	10	13361211	13361211	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:13361211G>T	ENST00000327347.5	-	9	1485	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	SEPHS1_ENST00000537130.1_Silent_p.P303P|SEPHS1_ENST00000378614.4_Silent_p.P299P|SEPHS1_ENST00000545675.1_3'UTR	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	370					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CGATGATCCGGGGTTTGTCTA	0.488													8	528	---	---	---	---	0	0
FRMD4A	55691	broad.mit.edu	37	10	13900904	13900904	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:13900904C>A	ENST00000357447.2	-	3	422	c.54G>T	c.(52-54)gaG>gaT	p.E18D	FRMD4A_ENST00000342409.2_Missense_Mutation_p.E34D|FRMD4A_ENST00000378503.1_Missense_Mutation_p.E18D|FRMD4A_ENST00000358621.4_Missense_Mutation_p.E3D	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	18						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						ATCGGCGGCCCTCCGTCATCT	0.498													5	205	---	---	---	---	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874770	24874770	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:24874770G>T	ENST00000396432.2	-	26	4934	c.4448C>A	c.(4447-4449)cCc>cAc	p.P1483H		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1482					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGTCGTGCTGGGGTCTTTCCT	0.423													9	589	---	---	---	---	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849107	26849107	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:26849107G>T	ENST00000376236.4	+	12	1684	c.1229G>T	c.(1228-1230)tGg>tTg	p.W410L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	410	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTTAACCAGTGGGTCATGGGA	0.502													6	161	---	---	---	---	0	0
ZNF438	220929	broad.mit.edu	37	10	31137869	31137869	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:31137869G>T	ENST00000452305.1	-	8	1998	c.1435C>A	c.(1435-1437)Cct>Act	p.P479T	ZNF438_ENST00000375311.1_Missense_Mutation_p.P53T|ZNF438_ENST00000436087.2_Missense_Mutation_p.P489T|ZNF438_ENST00000331737.6_Missense_Mutation_p.P479T|ZNF438_ENST00000413025.1_Missense_Mutation_p.P489T|ZNF438_ENST00000361310.3_Missense_Mutation_p.P489T|ZNF438_ENST00000444692.2_Missense_Mutation_p.P479T|ZNF438_ENST00000442986.1_Missense_Mutation_p.P489T|ZNF438_ENST00000538351.2_Missense_Mutation_p.P440T	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CTGGGCTTAGGGGAAGAGCTG	0.473													9	260	---	---	---	---	0	0
EPC1	80314	broad.mit.edu	37	10	32560609	32560609	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:32560609G>T	ENST00000319778.6	-	13	2544	c.2242C>A	c.(2242-2244)Cca>Aca	p.P748T	EPC1_ENST00000375110.2_Missense_Mutation_p.P698T|EPC1_ENST00000263062.8_Missense_Mutation_p.P771T	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	771					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GCATTTATTGGGGCAATAGAG	0.443													6	352	---	---	---	---	0	0
NRP1	8829	broad.mit.edu	37	10	33469173	33469173	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:33469173C>A	ENST00000265371.4	-	18	3128	c.2603G>T	c.(2602-2604)gGg>gTg	p.G868V	NRP1_ENST00000374875.1_Missense_Mutation_p.G680V|NRP1_ENST00000374867.2_Missense_Mutation_p.G868V|NRP1_ENST00000395995.1_Missense_Mutation_p.G851V			O14786	NRP1_HUMAN	neuropilin 1	868					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CAGGAGGACCCCCAGGGCACT	0.522													6	257	---	---	---	---	0	0
BMS1	9790	broad.mit.edu	37	10	43288532	43288532	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:43288532G>T	ENST00000374518.5	+	8	1092	c.1029G>T	c.(1027-1029)ggG>ggT	p.G343G		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGGAGTTGGGGGTGTGCTGT	0.483													9	339	---	---	---	---	0	0
ZNF32	7580	broad.mit.edu	37	10	44140142	44140142	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:44140142G>T	ENST00000395797.1	-	3	366	c.178C>A	c.(178-180)Cca>Aca	p.P60T	ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.P60T	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCGAATCTGGGGATTTTTGT	0.463													7	371	---	---	---	---	0	0
UBE2D1	7321	broad.mit.edu	37	10	60127731	60127731	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:60127731C>A	ENST00000373910.4	+	6	580	c.353C>A	c.(352-354)cCc>cAc	p.P118H		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	118					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						CCAGATGACCCCTTAGTACCA	0.313													6	274	---	---	---	---	0	0
ANK3	288	broad.mit.edu	37	10	61831142	61831142	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:61831142G>T	ENST00000280772.2	-	37	9688	c.9497C>A	c.(9496-9498)cCt>cAt	p.P3166H	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGGGTTAAAGGGCTTTTCCC	0.448													5	174	---	---	---	---	0	0
ARID5B	84159	broad.mit.edu	37	10	63845636	63845636	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:63845636C>A	ENST00000279873.7	+	9	1785	c.1375C>A	c.(1375-1377)Cca>Aca	p.P459T	ARID5B_ENST00000309334.5_Missense_Mutation_p.P216T	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	459					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGAAAATGCCCCAAAGCCCCA	0.448													7	231	---	---	---	---	0	0
H2AFY2	55506	broad.mit.edu	37	10	71868954	71868954	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:71868954C>A	ENST00000373255.4	+	8	1208	c.944C>A	c.(943-945)cCc>cAc	p.P315H	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	315	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CCGCCTTTCCCCAGCGGCAGG	0.542													5	80	---	---	---	---	0	0
PSAP	5660	broad.mit.edu	37	10	73578465	73578465	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:73578465G>T	ENST00000394936.3	-	13	1595	c.1448C>A	c.(1447-1449)cCc>cAc	p.P483H	PSAP_ENST00000394934.1_Missense_Mutation_p.P485H			P07602	SAP_HUMAN	prosaposin	483	Saposin B-type 4.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						ATGGGCCGAGGGGCAGGCTCC	0.493													6	296	---	---	---	---	0	0
P4HA1	5033	broad.mit.edu	37	10	74810827	74810827	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:74810827C>A	ENST00000412021.2	-	8	1217	c.884G>T	c.(883-885)gGg>gTg	p.G295V	P4HA1_ENST00000394890.2_Missense_Mutation_p.G295V|P4HA1_ENST00000263556.3_Missense_Mutation_p.G295V|P4HA1_ENST00000440381.1_Missense_Mutation_p.G295V|P4HA1_ENST00000373008.2_Missense_Mutation_p.G295V|P4HA1_ENST00000307116.2_Missense_Mutation_p.G295V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	295						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GATACCCTCCCCACGGCACAG	0.418													11	582	---	---	---	---	0	0
POLR3A	11128	broad.mit.edu	37	10	79785871	79785871	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:79785871C>A	ENST00000372371.3	-	2	298	c.161G>T	c.(160-162)gGg>gTg	p.G54V		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	54					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTCGAGCACCCCATATAGCAA	0.537													5	150	---	---	---	---	0	0
GRID1	2894	broad.mit.edu	37	10	87487628	87487628	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:87487628C>A	ENST00000327946.7	-	10	1602	c.1517G>T	c.(1516-1518)gGg>gTg	p.G506V	GRID1_ENST00000536331.1_Missense_Mutation_p.G77V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	506						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GATGAGCTCCCCGATCATCCC	0.542										Multiple Myeloma(13;0.14)			5	181	---	---	---	---	0	0
IFIT1	3434	broad.mit.edu	37	10	91162647	91162647	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:91162647C>A	ENST00000546318.1	+	2	1809	c.522C>A	c.(520-522)ccC>ccA	p.P174P	IFIT1_ENST00000371804.3_Silent_p.P205P|LIPA_ENST00000371837.1_Intron	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	205					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	p.P205P(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CTTTGCTTCCCCTAAGGCAGG	0.463													10	693	---	---	---	---	0	0
CPEB3	22849	broad.mit.edu	37	10	93851634	93851634	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:93851634G>T	ENST00000412050.4	-	8	1686	c.1598C>A	c.(1597-1599)cCc>cAc	p.P533H	CPEB3_ENST00000265997.4_Missense_Mutation_p.P547H	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	547							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AGTTTTTCTGGGGTCCAAAGG	0.433													5	137	---	---	---	---	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97366611	97366611	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:97366611C>A	ENST00000371224.2	-	18	2433	c.2296G>T	c.(2296-2298)Ggg>Tgg	p.G766W	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G764W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	766	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TGGTCCTTCCCTCGCAGCAGC	0.488													7	400	---	---	---	---	0	0
SLIT1	6585	broad.mit.edu	37	10	98824595	98824595	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:98824595C>A	ENST00000266058.4	-	6	769	c.524G>T	c.(523-525)gGg>gTg	p.G175V	SLIT1_ENST00000371041.3_Missense_Mutation_p.G175V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G175V	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	175					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACGGAAGGCCCCTTCCTCAAT	0.562													6	310	---	---	---	---	0	0
RRP12	23223	broad.mit.edu	37	10	99139075	99139075	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:99139075G>T	ENST00000370992.4	-	15	1884	c.1773C>A	c.(1771-1773)ccC>ccA	p.P591P	RRP12_ENST00000536831.1_Silent_p.P309P|RRP12_ENST00000315563.6_Silent_p.P491P|RRP12_ENST00000414986.1_Silent_p.P530P	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	591						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGTTAGCCAGGGGCAAGAAGT	0.562													10	445	---	---	---	---	0	0
EXOSC1	51013	broad.mit.edu	37	10	99203015	99203015	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:99203015C>A	ENST00000370902.3	-	3	232	c.201G>T	c.(199-201)gtG>gtT	p.V67V	EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000485122.2_Silent_p.V67V|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000370886.5_Silent_p.V67V	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	67	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding	p.V67V(1)		breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CAATAGCTCCCACATCTGGCA	0.458													7	442	---	---	---	---	0	0
DNMBP	23268	broad.mit.edu	37	10	101715791	101715791	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:101715791C>A	ENST00000342239.3	-	4	1531	c.1440G>T	c.(1438-1440)agG>agT	p.R480S	DNMBP_ENST00000324109.4_Missense_Mutation_p.R480S|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	480					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CAGAAGAGCCCCTGTAAAGAG	0.473													6	300	---	---	---	---	0	0
SCD	6319	broad.mit.edu	37	10	102107910	102107910	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:102107910C>A	ENST00000370355.2	+	2	498	c.117C>A	c.(115-117)ccC>ccA	p.P39P		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	39					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		AGACGATGCCCCTCTACTTGG	0.507													7	261	---	---	---	---	0	0
FAM178A	0	broad.mit.edu	37	10	102698452	102698452	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:102698452C>A	ENST00000238961.4	+	11	3155	c.2613C>A	c.(2611-2613)ccC>ccA	p.P871P	FAM178A_ENST00000370269.3_Silent_p.P871P	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		CTTTGTTTCCCCTGGAGAATC	0.363													6	352	---	---	---	---	0	0
HPS6	79803	broad.mit.edu	37	10	103826089	103826089	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:103826089G>T	ENST00000299238.5	+	1	943	c.858G>T	c.(856-858)ggG>ggT	p.G286G		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	286						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TTGACTTCGGGGGCACTGTGA	0.672									Hermansky-Pudlak syndrome				4	76	---	---	---	---	0	0
HPS6	79803	broad.mit.edu	37	10	103826902	103826902	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:103826902C>A	ENST00000299238.5	+	1	1756	c.1671C>A	c.(1669-1671)ccC>ccA	p.P557P		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	557						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GAAAGGAACCCCCCAATGGAA	0.587									Hermansky-Pudlak syndrome				5	118	---	---	---	---	0	0
SUFU	51684	broad.mit.edu	37	10	104264005	104264005	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:104264005G>T	ENST00000369902.3	+	1	262	c.96G>T	c.(94-96)ccG>ccT	p.P32P	SUFU_ENST00000423559.2_Silent_p.P32P|SUFU_ENST00000369899.2_Silent_p.P32P	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	32					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCTTTCCCCCGGGACTGCACG	0.721			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				3	40	---	---	---	---	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105363021	105363021	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:105363021G>T	ENST00000369774.4	-	15	2230	c.1954C>A	c.(1954-1956)Ctg>Atg	p.L652M	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L487M|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L624M|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L519M			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	652	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCCTGGTCAGGGACAGCGAG	0.572													6	313	---	---	---	---	0	0
SORCS3	22986	broad.mit.edu	37	10	106737151	106737151	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:106737151G>T	ENST00000369701.3	+	4	1081	c.854G>T	c.(853-855)gGg>gTg	p.G285V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	285						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGACGAAGGGGCGACCTAT	0.468													5	164	---	---	---	---	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111633142	111633142	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:111633142G>T	ENST00000502935.1	-	16	1554	c.1435C>A	c.(1435-1437)Cct>Act	p.P479T	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.P365T|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.P436T|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.P455T			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	436					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TAGGCTGTAGGGGTCCCAAAA	0.413													7	252	---	---	---	---	0	0
NRAP	4892	broad.mit.edu	37	10	115413823	115413823	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:115413823G>T	ENST00000369358.4	-	5	666	c.422C>A	c.(421-423)cCc>cAc	p.P141H	NRAP_ENST00000360478.3_Missense_Mutation_p.P141H|NRAP_ENST00000359988.3_Missense_Mutation_p.P141H|NRAP_ENST00000369360.3_Missense_Mutation_p.P141H			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	141						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TACAATTTCGGGGTCTGGCAG	0.463													7	454	---	---	---	---	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115540429	115540429	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:115540429C>A	ENST00000354462.3	+	6	644	c.486C>A	c.(484-486)ccC>ccA	p.P162P	PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.P330P|PLEKHS1_ENST00000369309.1_Silent_p.P246P					pleckstrin homology domain containing, family S member 1																		GTATGTGTCCCTCAAAATGCC	0.453													4	105	---	---	---	---	0	0
RGS10	6001	broad.mit.edu	37	10	121275092	121275092	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:121275092C>A	ENST00000392865.1	-	4	348	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W	RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369101.3_Missense_Mutation_p.G102W|RGS10_ENST00000369103.2_Missense_Mutation_p.G110W	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	102	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CGAGACTGCCCCTCCACGTTG	0.552													4	69	---	---	---	---	0	0
TACC2	10579	broad.mit.edu	37	10	123970974	123970974	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:123970974C>A	ENST00000369005.1	+	9	7374	c.7034C>A	c.(7033-7035)cCc>cAc	p.P2345H	TACC2_ENST00000368999.1_Missense_Mutation_p.P423H|TACC2_ENST00000453444.2_Missense_Mutation_p.P2349H|TACC2_ENST00000369001.1_Missense_Mutation_p.P49H|TACC2_ENST00000358010.1_Missense_Mutation_p.P491H|TACC2_ENST00000513429.1_Missense_Mutation_p.P491H|TACC2_ENST00000369000.1_Missense_Mutation_p.P49H|TACC2_ENST00000515273.1_Missense_Mutation_p.P2349H|TACC2_ENST00000334433.3_Missense_Mutation_p.P2345H|TACC2_ENST00000369004.3_Missense_Mutation_p.P423H|TACC2_ENST00000260733.3_Missense_Mutation_p.P423H|TACC2_ENST00000360561.3_Missense_Mutation_p.P423H|TACC2_ENST00000515603.1_Missense_Mutation_p.P2300H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2345	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGGGATGACCCCAATTTTAAC	0.473													8	510	---	---	---	---	0	0
BTBD16	118663	broad.mit.edu	37	10	124049456	124049456	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:124049456C>A	ENST00000368994.2	+	6	672	c.421C>A	c.(421-423)Cct>Act	p.P141T	BTBD16_ENST00000260723.4_Missense_Mutation_p.P140T			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	140										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AGAAAAATCCCCTGCAAAGAG	0.428													6	290	---	---	---	---	0	0
ADAM12	8038	broad.mit.edu	37	10	127731623	127731623	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:127731623G>T	ENST00000368679.4	-	18	2408	c.2099C>A	c.(2098-2100)cCc>cAc	p.P700H	ADAM12_ENST00000368676.4_Missense_Mutation_p.P700H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	700					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTGCCGGATGGGGCCGCTGTC	0.627													4	43	---	---	---	---	0	0
ADAM12	8038	broad.mit.edu	37	10	127787032	127787032	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:127787032G>T	ENST00000368679.4	-	10	1267	c.958C>A	c.(958-960)Cca>Aca	p.P320T	ADAM12_ENST00000368676.4_Missense_Mutation_p.P320T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	320	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTCATGATTGGGGCCATGCCG	0.473													7	362	---	---	---	---	0	0
MKI67	4288	broad.mit.edu	37	10	129923869	129923869	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:129923869G>T	ENST00000368654.3	-	2	438	c.63C>A	c.(61-63)ccC>ccA	p.P21P	MKI67_ENST00000368653.3_Silent_p.P21P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	21					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGAGGCTCAGGGGAAAGTGGG	0.527													6	189	---	---	---	---	0	0
EBF3	253738	broad.mit.edu	37	10	131640484	131640484	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:131640484G>T	ENST00000368648.3	-	13	1313	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	EBF3_ENST00000355311.5_Missense_Mutation_p.P423H	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	423					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCCCAGGGTGGGGATCTGGTT	0.617													7	282	---	---	---	---	0	0
DUSP8	1850	broad.mit.edu	37	11	1579410	1579410	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:1579410C>A	ENST00000397374.3	-	5	756	c.629G>T	c.(628-630)cGg>cTg	p.R210L	DUSP8_ENST00000331588.4_Missense_Mutation_p.R210L|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	210	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GATGGGGACCCGCATGAAGCG	0.577													4	167	---	---	---	---	0	0
ZNF195	0	broad.mit.edu	37	11	3381267	3381267	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:3381267C>A	ENST00000354599.6	-	4	859	c.755G>T	c.(754-756)gGg>gTg	p.G252V	ZNF195_ENST00000399602.4_Missense_Mutation_p.G324V|ZNF195_ENST00000343338.7_Missense_Mutation_p.G256V|ZNF195_ENST00000005082.9_Missense_Mutation_p.G301V|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Missense_Mutation_p.G256V|ZNF195_ENST00000526601.1_Missense_Mutation_p.G305V	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTAATGTTCCCCTCCGGCATA	0.388													6	370	---	---	---	---	0	0
RRM1	6240	broad.mit.edu	37	11	4144501	4144501	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:4144501C>A	ENST00000300738.5	+	12	1411	c.1207C>A	c.(1207-1209)Ccg>Acg	p.P403T	RRM1_ENST00000423050.2_Missense_Mutation_p.P306T|RRM1_ENST00000537197.1_Missense_Mutation_p.P65T|RRM1_ENST00000534285.1_Missense_Mutation_p.P181T|RRM1_ENST00000528470.1_3'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	403					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AACAGGCACCCCGTATATGCT	0.463													7	202	---	---	---	---	0	0
RRM1	6240	broad.mit.edu	37	11	4148347	4148347	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:4148347C>A	ENST00000300738.5	+	14	1757	c.1553C>A	c.(1552-1554)cCt>cAt	p.P518H	RRM1_ENST00000423050.2_Missense_Mutation_p.P421H|RRM1_ENST00000537197.1_Missense_Mutation_p.P180H|RRM1_ENST00000534285.1_Missense_Mutation_p.P296H	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	518					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATGAGATACCCTTTTGAGAGT	0.458													6	297	---	---	---	---	0	0
OR52I1	390037	broad.mit.edu	37	11	4615305	4615305	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:4615305C>A	ENST00000450052.2	+	2	109	c.109C>A	c.(109-111)Cct>Act	p.P37T	OR52I1_ENST00000530443.2_Missense_Mutation_p.P13T			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGGAAACCCCTGCCTCCTT	0.473													6	382	---	---	---	---	0	0
HBB	3043	broad.mit.edu	37	11	5247873	5247873	+	Missense_Mutation	SNP	C	C	A	rs33991993		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:5247873C>A	ENST00000335295.4	-	2	298	c.249G>T	c.(247-249)aaG>aaT	p.K83N		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta			Not glycated.	K -> M (in Helsinki; O(2) affinity up).|K -> N (in Providence).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAAAGGTGCCCTTGAGGTTGT	0.537									Sickle Cell Trait				6	142	---	---	---	---	0	0
OR56B1	387748	broad.mit.edu	37	11	5758698	5758698	+	Missense_Mutation	SNP	C	C	A	rs148131819		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:5758698C>A	ENST00000317121.3	+	1	1018	c.952C>A	c.(952-954)Ctt>Att	p.L318I	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTGTTTGCCCTTACAAAAGA	0.408													8	375	---	---	---	---	0	0
OR52N4	390072	broad.mit.edu	37	11	5776301	5776301	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:5776301G>T	ENST00000317254.3	+	1	379	c.331G>T	c.(331-333)Ggg>Tgg	p.G111W	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CACCTTCACAGGGATGGAGTC	0.478													6	246	---	---	---	---	0	0
DENND5A	23258	broad.mit.edu	37	11	9182364	9182364	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9182364C>A	ENST00000328194.3	-	12	2652	c.2332G>T	c.(2332-2334)Ggg>Tgg	p.G778W	DENND5A_ENST00000527700.1_Missense_Mutation_p.G121W|DENND5A_ENST00000530044.1_Missense_Mutation_p.G778W	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	778										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCCCATGCCCTAGCTCCACA	0.498													5	169	---	---	---	---	0	0
DENND5A	23258	broad.mit.edu	37	11	9191477	9191477	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9191477G>T	ENST00000328194.3	-	10	2397	c.2077C>A	c.(2077-2079)Cct>Act	p.P693T	DENND5A_ENST00000527700.1_Missense_Mutation_p.P36T|DENND5A_ENST00000530044.1_Missense_Mutation_p.P693T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	693										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACTGGGCAGGGGCATTCCTT	0.433													6	352	---	---	---	---	0	0
IPO7	10527	broad.mit.edu	37	11	9430093	9430093	+	Missense_Mutation	SNP	G	G	T	rs148503390	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9430093G>T	ENST00000379719.3	+	3	369	c.227G>T	c.(226-228)gGg>gTg	p.G76V		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	76	Importin N-terminal.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAGCACCAGGGGATATATCC	0.368													5	191	---	---	---	---	0	0
SBF2	81846	broad.mit.edu	37	11	9867158	9867158	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9867158G>T	ENST00000256190.8	-	24	3201	c.3064C>A	c.(3064-3066)Cca>Aca	p.P1022T	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1022					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATTATTTGTGGGGTAGTTTGT	0.383													7	297	---	---	---	---	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17111359	17111359	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:17111359G>T	ENST00000265970.7	-	32	4986	c.4987C>A	c.(4987-4989)Ctg>Atg	p.L1663M	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L1283M|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1663					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTCAAAGGCAGGGTTACTCCA	0.423													7	513	---	---	---	---	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077926	19077926	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:19077926C>A	ENST00000329773.2	-	2	111	c.24G>T	c.(22-24)tgG>tgT	p.W8C		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	8					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TTTCTGTTCCCCAGGCCGGGG	0.502													9	517	---	---	---	---	0	0
NAV2	89797	broad.mit.edu	37	11	20070636	20070636	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:20070636G>T	ENST00000396085.1	+	15	4626	c.4265G>T	c.(4264-4266)gGg>gTg	p.G1422V	NAV2_ENST00000527559.2_Missense_Mutation_p.G1374V|NAV2_ENST00000349880.4_Missense_Mutation_p.G1422V|NAV2_ENST00000311043.8_Missense_Mutation_p.G508V|NAV2_ENST00000540292.1_Missense_Mutation_p.G1376V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000533917.1_Missense_Mutation_p.G508V|NAV2_ENST00000360655.4_Missense_Mutation_p.G1358V|NAV2_ENST00000396087.3_Missense_Mutation_p.G1445V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1445	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGCAGTGGAGGGGTCCCCAGC	0.567													6	226	---	---	---	---	0	0
NAV2	89797	broad.mit.edu	37	11	20104694	20104694	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:20104694C>A	ENST00000396085.1	+	27	5837	c.5476C>A	c.(5476-5478)Cca>Aca	p.P1826T	NAV2_ENST00000527559.2_Missense_Mutation_p.P1811T|NAV2_ENST00000349880.4_Missense_Mutation_p.P1823T|NAV2_ENST00000311043.8_Missense_Mutation_p.P887T|NAV2_ENST00000540292.1_Missense_Mutation_p.P1813T|NAV2_ENST00000533917.1_Missense_Mutation_p.P887T|NAV2_ENST00000360655.4_Missense_Mutation_p.P1759T|NAV2_ENST00000396087.3_Missense_Mutation_p.P1882T	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1882	Poly-Lys.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGTTCCACCCCACTGCTGAG	0.488													7	171	---	---	---	---	0	0
ANO5	203859	broad.mit.edu	37	11	22296150	22296150	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:22296150C>A	ENST00000324559.8	+	20	2588	c.2271C>A	c.(2269-2271)ccC>ccA	p.P757P	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	757						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACATCATTCCCCGTCTAGTTT	0.358													8	255	---	---	---	---	0	0
EXT2	2132	broad.mit.edu	37	11	44146521	44146521	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:44146521C>A	ENST00000395673.3	+	5	1081	c.1025C>A	c.(1024-1026)cCa>cAa	p.P342Q	EXT2_ENST00000358681.4_Missense_Mutation_p.P309Q|EXT2_ENST00000533608.1_Missense_Mutation_p.P309Q|EXT2_ENST00000343631.3_Missense_Mutation_p.P309Q	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	309					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCGATTACCCACAGGTGCTA	0.488			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				5	135	---	---	---	---	0	0
PRDM11	56981	broad.mit.edu	37	11	45245859	45245859	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:45245859G>T	ENST00000263765.4	+	8	1185	c.936G>T	c.(934-936)caG>caT	p.Q312H	PRDM11_ENST00000424263.2_Missense_Mutation_p.Q278H|PRDM11_ENST00000530656.1_Missense_Mutation_p.Q312H|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	312										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TGCTGAGACAGGGCAAAAGTC	0.507													8	345	---	---	---	---	0	0
NR1H3	10062	broad.mit.edu	37	11	47281462	47281462	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47281462G>T	ENST00000467728.1	+	2	1402	c.164G>T	c.(163-165)gGg>gTg	p.G55V	NR1H3_ENST00000405576.1_Missense_Mutation_p.G10V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Missense_Mutation_p.G10V|NR1H3_ENST00000481889.2_Missense_Mutation_p.G10V|NR1H3_ENST00000405853.3_Missense_Mutation_p.G55V|NR1H3_ENST00000441012.2_Missense_Mutation_p.G55V|NR1H3_ENST00000407404.1_Missense_Mutation_p.G55V			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	55					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGTACTGCAGGGGTGGGGCTG	0.657											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	31	---	---	---	---	0	0
MADD	8567	broad.mit.edu	37	11	47296695	47296695	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47296695C>A	ENST00000342922.4	+	3	1001	c.644C>A	c.(643-645)cCt>cAt	p.P215H	MADD_ENST00000395344.3_Missense_Mutation_p.P215H|MADD_ENST00000395336.3_Missense_Mutation_p.P215H|MADD_ENST00000406482.1_Missense_Mutation_p.P215H|MADD_ENST00000402799.1_Missense_Mutation_p.P215H|MADD_ENST00000407859.3_Missense_Mutation_p.P215H|MADD_ENST00000402192.2_Missense_Mutation_p.P215H|MADD_ENST00000311027.5_Missense_Mutation_p.P215H|MADD_ENST00000349238.3_Missense_Mutation_p.P215H	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	215	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGGGCATCCCTCGAGGCGTA	0.498													5	172	---	---	---	---	0	0
MADD	8567	broad.mit.edu	37	11	47299747	47299747	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47299747G>T	ENST00000342922.4	+	6	1484	c.1127G>T	c.(1126-1128)gGg>gTg	p.G376V	MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.G376V|MADD_ENST00000395336.3_Missense_Mutation_p.G376V|MADD_ENST00000406482.1_Missense_Mutation_p.G376V|MADD_ENST00000402799.1_Missense_Mutation_p.G376V|MADD_ENST00000407859.3_Missense_Mutation_p.G376V|MADD_ENST00000402192.2_Missense_Mutation_p.G376V|MADD_ENST00000311027.5_Missense_Mutation_p.G376V|MADD_ENST00000349238.3_Missense_Mutation_p.G376V	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	376	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TACATCATTGGGGTTCCTGCC	0.458													8	502	---	---	---	---	0	0
CELF1	10658	broad.mit.edu	37	11	47508712	47508712	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47508712C>A	ENST00000395290.2	-	2	269	c.260G>T	c.(259-261)gGg>gTg	p.G87V	CELF1_ENST00000358597.3_Splice_Site_p.G87V|CELF1_ENST00000531165.1_Splice_Site_p.G114V|CELF1_ENST00000532048.1_Splice_Site_p.G114V|CELF1_ENST00000395292.2_Splice_Site_p.G87V|CELF1_ENST00000310513.5_Splice_Site_p.G87V|CELF1_ENST00000361904.3_Splice_Site_p.G87V	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	87	RRM 1.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CTTTCTTACCCCTGGGAGGAC	0.388													6	305	---	---	---	---	0	0
OR4C12	283093	broad.mit.edu	37	11	50003461	50003461	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:50003461G>T	ENST00000335238.4	-	1	610	c.577C>A	c.(577-579)Ctt>Att	p.L193I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGAGACCAAGGGTATGAGTG	0.408													5	151	---	---	---	---	0	0
OR5T3	390154	broad.mit.edu	37	11	56020461	56020461	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:56020461G>T	ENST00000303059.3	+	1	786	c.786G>T	c.(784-786)aaG>aaT	p.K262N		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K262N(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATTCTGCTAAGGGAAGGCAAA	0.413													8	470	---	---	---	---	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077242	57077242	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:57077242G>T	ENST00000532437.1	-	5	3254	c.2943C>A	c.(2941-2943)ccC>ccA	p.P981P	TNKS1BP1_ENST00000358252.3_Silent_p.P981P			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	981	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGAGCTCAGGGGTCTCGTTC	0.567													8	167	---	---	---	---	0	0
OR5A1	219982	broad.mit.edu	37	11	59211048	59211048	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:59211048C>A	ENST00000302030.2	+	1	432	c.407C>A	c.(406-408)cCc>cAc	p.P136H		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTTCTCTACCCCACTATCATG	0.542													11	505	---	---	---	---	0	0
PPP1R32	220004	broad.mit.edu	37	11	61254627	61254627	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:61254627G>T	ENST00000338608.2	+	11	1083	c.958G>T	c.(958-960)Ggg>Tgg	p.G320W	PPP1R32_ENST00000432063.2_Missense_Mutation_p.G300W	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	320								p.G320R(1)									GGAGCCCACAGGGTTCAGCCT	0.562													6	354	---	---	---	---	0	0
BEST1	7439	broad.mit.edu	37	11	61730039	61730039	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:61730039C>A	ENST00000449131.2	+	9	1319	c.1233C>A	c.(1231-1233)ccC>ccA	p.P411P	BEST1_ENST00000378042.3_Silent_p.P384P|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378043.4_Silent_p.P471P|BEST1_ENST00000301774.9_Silent_p.P99P	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	471					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CACAGACGCCCCTCAGCCCCA	0.552													5	84	---	---	---	---	0	0
SCGB2A2	4250	broad.mit.edu	37	11	62038408	62038408	+	Silent	SNP	G	G	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62038408G>C	ENST00000525380.1	+	2	170	c.111G>C	c.(109-111)gtG>gtC	p.V37V	SCGB2A2_ENST00000227918.2_Silent_p.V37V			Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	37						extracellular region	steroid binding	p.V37V(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						ATCCACAAGTGTCTAAGACTG	0.418													55	128	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62287590	62287590	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62287590G>T	ENST00000378024.4	-	5	14573	c.14299C>A	c.(14299-14301)Cct>Act	p.P4767T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4767					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATCAGGGGTGTTGATG	0.517													7	335	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62292624	62292624	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62292624G>T	ENST00000378024.4	-	5	9539	c.9265C>A	c.(9265-9267)Ccc>Acc	p.P3089T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3089					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGATCTTGGGGGCTTTGATG	0.458													12	543	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62294419	62294419	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62294419C>A	ENST00000378024.4	-	5	7744	c.7470G>T	c.(7468-7470)agG>agT	p.R2490S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2490					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTGGGGCCCCTGATGTTCA	0.478													6	300	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62294886	62294886	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62294886G>T	ENST00000378024.4	-	5	7277	c.7003C>A	c.(7003-7005)Cca>Aca	p.P2335T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2335					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCAGCTTTGGGGCAGAAACA	0.458													8	476	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62295786	62295786	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62295786G>T	ENST00000378024.4	-	5	6377	c.6103C>A	c.(6103-6105)Cca>Aca	p.P2035T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2035					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATCTGGGGCATCAATG	0.493													10	682	---	---	---	---	0	0
EML3	256364	broad.mit.edu	37	11	62375763	62375763	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62375763C>A	ENST00000394773.2	-	10	1423	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	EML3_ENST00000529309.1_Missense_Mutation_p.Q372H|EML3_ENST00000494176.2_Missense_Mutation_p.Q344H|EML3_ENST00000531557.1_Missense_Mutation_p.Q155H|EML3_ENST00000278845.4_Missense_Mutation_p.Q373H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	372						cytoplasm|microtubule	protein binding	p.Q372H(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAAAGGCACCCTGATCCTGAA	0.532													6	259	---	---	---	---	0	0
RARRES3	5920	broad.mit.edu	37	11	63312350	63312350	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:63312350C>A	ENST00000439013.2	+	3	429	c.376C>A	c.(376-378)Cgc>Agc	p.R126S	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R126S|RARRES3_ENST00000255688.3_Missense_Mutation_p.R126S			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	126					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	p.R126S(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TGGCAAGTCCCGCTGTAAACA	0.517													5	287	---	---	---	---	0	0
PLA2G16	11145	broad.mit.edu	37	11	63381507	63381507	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:63381507C>A	ENST00000323646.5	-	0	334				PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_De_novo_Start_OutOfFrame	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN	phospholipase A2, group XVI						lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						GGTGTGGACCCTCAAGGCCAG	0.627													5	119	---	---	---	---	0	0
BAD	572	broad.mit.edu	37	11	64037705	64037705	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64037705C>A	ENST00000394532.3	-	3	753	c.483G>T	c.(481-483)agG>agT	p.R161S	BAD_ENST00000309032.3_Missense_Mutation_p.R161S|BAD_ENST00000544785.1_Missense_Mutation_p.G98W	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	161					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						CGGAGCTTCCCCTGCCCAAGT	0.627													5	74	---	---	---	---	0	0
GPR137	56834	broad.mit.edu	37	11	64055537	64055537	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64055537G>T	ENST00000539851.1	+	5	1101	c.634G>T	c.(634-636)Ggg>Tgg	p.G212W	GPR137_ENST00000313074.3_Splice_Site_p.G212W|GPR137_ENST00000411458.1_Splice_Site_p.G270W|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000438980.2_Splice_Site_p.G212W	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	212						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTGTGCCAGGGGACCAGTGT	0.642													5	112	---	---	---	---	0	0
NRXN2	9379	broad.mit.edu	37	11	64427831	64427831	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64427831C>A	ENST00000265459.6	-	11	2823	c.2362G>T	c.(2362-2364)Ggg>Tgg	p.G788W	NRXN2_ENST00000377559.3_Missense_Mutation_p.G757W|NRXN2_ENST00000377551.1_Missense_Mutation_p.G788W|NRXN2_ENST00000409571.1_Missense_Mutation_p.G781W	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	788	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTCATCTGCCCCCCATCCAGC	0.617													5	115	---	---	---	---	0	0
PYGM	5837	broad.mit.edu	37	11	64525943	64525943	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64525943C>A	ENST00000164139.3	-	3	788	c.390G>T	c.(388-390)gcG>gcT	p.A130A	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	130					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGCCCAGCCCCGCATCCTCCT	0.652													5	163	---	---	---	---	0	0
SF1	7536	broad.mit.edu	37	11	64537846	64537846	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64537846C>A	ENST00000377390.3	-	4	608	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	SF1_ENST00000377394.3_Missense_Mutation_p.G91W|SF1_ENST00000377387.1_Missense_Mutation_p.G216W|SF1_ENST00000227503.9_Missense_Mutation_p.G91W|SF1_ENST00000433274.2_Missense_Mutation_p.G65W|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.G91W	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	91					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AGCCGCTTCCCCTCGCTATTG	0.532													5	188	---	---	---	---	0	0
ATG2A	23130	broad.mit.edu	37	11	64676776	64676776	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64676776G>T	ENST00000421419.2	-	15	2285	c.2171C>A	c.(2170-2172)cCc>cAc	p.P724H	ATG2A_ENST00000377264.3_Missense_Mutation_p.P724H			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	724							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGTGCTCTTGGGGTCCAGGGC	0.617													4	103	---	---	---	---	0	0
LTBP3	4054	broad.mit.edu	37	11	65320672	65320672	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:65320672G>T	ENST00000301873.5	-	5	1294	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Silent_p.P342P	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	342						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGTAGCCCTGGGGACAGTCAG	0.627													5	132	---	---	---	---	0	0
SSSCA1	10534	broad.mit.edu	37	11	65339074	65339074	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:65339074C>A	ENST00000531405.1	+	3	594	c.358C>A	c.(358-360)Ctc>Atc	p.L120I	SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.L157I			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	157	Pro-rich.				cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						ACAGACAGCCCTCTTGCAGAA	0.617													4	104	---	---	---	---	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350073	65350073	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:65350073C>A	ENST00000309295.4	+	9	2195	c.1930C>A	c.(1930-1932)Cca>Aca	p.P644T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	644	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CATAGAGACCCCAGGGACAGA	0.542													4	96	---	---	---	---	0	0
NPAS4	266743	broad.mit.edu	37	11	66192519	66192519	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:66192519C>A	ENST00000311034.2	+	7	2334	c.2158C>A	c.(2158-2160)Cca>Aca	p.P720T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	720					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCTCTCTACCCCAGATCCCAG	0.582													6	188	---	---	---	---	0	0
CCS	9973	broad.mit.edu	37	11	66367007	66367007	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:66367007C>A	ENST00000533244.1	+	4	769	c.328C>A	c.(328-330)Cct>Act	p.P110T	CCS_ENST00000310190.4_Missense_Mutation_p.P91T	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	110	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						ACAGCTGACCCCTGAGCGCTG	0.612													4	38	---	---	---	---	0	0
SSH3	54961	broad.mit.edu	37	11	67072366	67072366	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:67072366G>T	ENST00000308127.4	+	3	405	c.227G>T	c.(226-228)gGg>gTg	p.G76V	SSH3_ENST00000308298.7_Missense_Mutation_p.G76V|SSH3_ENST00000376757.5_Missense_Mutation_p.G76V|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	76					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGCTCCACGGGGACCAGACA	0.622													4	48	---	---	---	---	0	0
INPPL1	3636	broad.mit.edu	37	11	71948310	71948310	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:71948310C>A	ENST00000298229.2	+	26	3226	c.3022C>A	c.(3022-3024)Cct>Act	p.P1008T	INPPL1_ENST00000538751.1_Missense_Mutation_p.P766T|INPPL1_ENST00000541756.1_Missense_Mutation_p.P766T	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1008	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCCAGGGCCCCTGTCCCATC	0.632													5	151	---	---	---	---	0	0
RNF169	254225	broad.mit.edu	37	11	74547027	74547027	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:74547027G>T	ENST00000299563.4	+	6	1392	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	460							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CCTGAAATGGGGGAAGAGTTA	0.473													7	357	---	---	---	---	0	0
DGAT2	84649	broad.mit.edu	37	11	75507428	75507428	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:75507428C>A	ENST00000228027.7	+	5	745	c.485C>A	c.(484-486)cCc>cAc	p.P162H	DGAT2_ENST00000376262.3_Missense_Mutation_p.P119H	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	162					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GGATACCACCCCCATGGTATC	0.547													6	353	---	---	---	---	0	0
TRIM49	57093	broad.mit.edu	37	11	89531568	89531568	+	Silent	SNP	T	T	C	rs139075721	by1000genomes	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:89531568T>C	ENST00000329758.1	-	8	1417	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	TRIM49_ENST00000532501.2_Silent_p.K286K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	363	B30.2/SPRY.					intracellular	zinc ion binding	p.K363K(3)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCTTCTCTTTCCGATACA	0.458													6	225	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92523311	92523311	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:92523311C>A	ENST00000298047.6	+	7	4555	c.4538C>A	c.(4537-4539)cCt>cAt	p.P1513H	FAT3_ENST00000409404.2_Missense_Mutation_p.P1513H|FAT3_ENST00000525166.1_Missense_Mutation_p.P1363H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1513	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGGATTGACCCTAGCACTGGC	0.488										TCGA Ovarian(4;0.039)			6	264	---	---	---	---	0	0
GPR83	10888	broad.mit.edu	37	11	94134379	94134379	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:94134379G>T	ENST00000243673.2	-	1	206	c.35C>A	c.(34-36)cCc>cAc	p.P12H	GPR83_ENST00000539203.2_Missense_Mutation_p.P12H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	12						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCGCACCAAGGGGAGGAGACA	0.706													5	59	---	---	---	---	0	0
MMP1	4312	broad.mit.edu	37	11	102662178	102662178	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:102662178G>T	ENST00000315274.6	-	8	1149	c.1082C>A	c.(1081-1083)cCc>cAc	p.P361H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	361	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GATGTCCTTGGGGTATCCGTG	0.448													7	535	---	---	---	---	0	0
MMP13	4322	broad.mit.edu	37	11	102820888	102820888	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:102820888G>T	ENST00000260302.3	-	6	896	c.868C>A	c.(868-870)Ctt>Att	p.L290I	MMP13_ENST00000340273.4_Missense_Mutation_p.L290I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	290	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATGGCATCAAGGGATAAGGAA	0.433													8	312	---	---	---	---	0	0
MMP13	4322	broad.mit.edu	37	11	102820932	102820932	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:102820932G>T	ENST00000260302.3	-	6	852	c.824C>A	c.(823-825)cCt>cAt	p.P275H	MMP13_ENST00000340273.4_Missense_Mutation_p.P275H	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	275					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TGGATGTTTAGGGTTGGGGTC	0.448													6	370	---	---	---	---	0	0
CARD17	440068	broad.mit.edu	37	11	104971436	104971436	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:104971436C>A	ENST00000375707.1	-	2	94	c.78G>T	c.(76-78)ctG>ctT	p.L26L	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1			caspase recruitment domain family, member 17											breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						ATAATTCACCCAGTAAGCCAT	0.438													7	439	---	---	---	---	0	0
PHLDB1	23187	broad.mit.edu	37	11	118501983	118501983	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:118501983G>T	ENST00000361417.2	+	8	2298	c.1887G>T	c.(1885-1887)ggG>ggT	p.G629G	PHLDB1_ENST00000356063.5_Silent_p.G629G|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	629										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGGCTGATGGGGGACCTGAGG	0.667													7	238	---	---	---	---	0	0
ACRV1	56	broad.mit.edu	37	11	125547733	125547733	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:125547733C>A	ENST00000533904.1	-	2	854	c.512G>T	c.(511-513)gGg>gTg	p.G171V	ACRV1_ENST00000530048.1_Missense_Mutation_p.G116V|ACRV1_ENST00000348856.3_Missense_Mutation_p.G71V|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Missense_Mutation_p.G76V|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000345274.1_Missense_Mutation_p.G101V|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000315608.3_Intron|ACRV1_ENST00000527795.1_Missense_Mutation_p.G101V			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	171	9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		AGCCTGTTCCCCTGAAGCGTG	0.542													5	137	---	---	---	---	0	0
SRPR	6734	broad.mit.edu	37	11	126135967	126135967	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:126135967C>A	ENST00000332118.6	-	8	1096	c.942G>T	c.(940-942)aaG>aaT	p.K314N	SRPR_ENST00000532259.1_Missense_Mutation_p.K286N	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	314					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCAGTGTTCCCTTGGTCGCAC	0.493													6	360	---	---	---	---	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839338	128839338	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:128839338C>A	ENST00000310343.9	-	22	5727	c.5728G>T	c.(5728-5730)Ggg>Tgg	p.G1910W	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1561W|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1561W	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1910	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCTGGAATCCCTTTGGACCCA	0.502													5	172	---	---	---	---	0	0
NFRKB	4798	broad.mit.edu	37	11	129752403	129752403	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:129752403C>A	ENST00000446488.3	-	9	1128	c.1025G>T	c.(1024-1026)gGg>gTg	p.G342V	NFRKB_ENST00000304521.5_Missense_Mutation_p.G342V|NFRKB_ENST00000524794.1_Missense_Mutation_p.G367V|NFRKB_ENST00000524746.1_Missense_Mutation_p.G342V	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	342					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AGGTGCGACCCCTTCAGTACT	0.468													6	249	---	---	---	---	0	0
WNK1	65125	broad.mit.edu	37	12	978200	978200	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:978200C>A	ENST00000537687.1	+	9	3951	c.3308C>A	c.(3307-3309)cCc>cAc	p.P1103H	WNK1_ENST00000574564.1_Missense_Mutation_p.P402H|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1188H	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	849					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCTGTTTCCCCCAAGGAACC	0.458													9	780	---	---	---	---	0	0
RAD52	5893	broad.mit.edu	37	12	1039296	1039296	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:1039296C>A	ENST00000539046.1	-	0	82				RAD52_ENST00000430095.2_Missense_Mutation_p.E67D|RAD52_ENST00000545564.1_Missense_Mutation_p.E67D|RAD52_ENST00000544742.1_Missense_Mutation_p.E67D|RAD52_ENST00000536177.1_Missense_Mutation_p.E67D|RAD52_ENST00000541619.1_Missense_Mutation_p.E67D|RAD52_ENST00000358495.3_Missense_Mutation_p.E67D			P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)						DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CCCGATGACCCTCAATGTAGC	0.398								Homologous recombination					4	111	---	---	---	---	0	0
NCAPD2	9918	broad.mit.edu	37	12	6640148	6640148	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:6640148C>A	ENST00000315579.5	+	31	4825	c.4026C>A	c.(4024-4026)ccC>ccA	p.P1342P	NCAPD2_ENST00000545962.1_Silent_p.P1297P	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1342					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.P1342P(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CACCAGAGCCCCGCCGTACTA	0.483													5	118	---	---	---	---	0	0
CHD4	1108	broad.mit.edu	37	12	6710586	6710586	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:6710586C>A	ENST00000309577.6	-	6	831	c.668G>T	c.(667-669)gGg>gTg	p.G223V	CHD4_ENST00000544040.1_Missense_Mutation_p.G216V|CHD4_ENST00000544484.1_Missense_Mutation_p.G220V|CHD4_ENST00000357008.2_Missense_Mutation_p.G223V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	223					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CACTGATGCCCCAGAACTGCC	0.562													7	324	---	---	---	---	0	0
CD163	9332	broad.mit.edu	37	12	7635313	7635313	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:7635313C>A	ENST00000359156.4	-	14	3375	c.3173G>T	c.(3172-3174)gGg>gTg	p.G1058V	CD163_ENST00000396620.3_Missense_Mutation_p.G1091V|CD163_ENST00000432237.2_Missense_Mutation_p.G1058V|CD163_ENST00000541972.1_Missense_Mutation_p.G1046V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1058					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAGAACAACCCCAAGGATCCC	0.413													6	244	---	---	---	---	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21391915	21391915	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:21391915G>T	ENST00000256958.2	+	15	1964	c.1868G>T	c.(1867-1869)aGg>aTg	p.R623M		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	623					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTCTACAGAAGGGTCTACTTG	0.264													5	188	---	---	---	---	0	0
KLHL42	57542	broad.mit.edu	37	12	27933756	27933756	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:27933756C>A	ENST00000381271.2	+	1	804	c.493C>A	c.(493-495)Cag>Aag	p.Q165K	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1			kelch-like family member 42																		GTGCAAGCCCCAGTTCCACCT	0.662													4	99	---	---	---	---	0	0
FAR2	55711	broad.mit.edu	37	12	29463970	29463970	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:29463970G>T	ENST00000536681.3	+	7	1024	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Missense_Mutation_p.G163W|FAR2_ENST00000182377.4_Missense_Mutation_p.G260W	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2						ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GACTGGGAAAGGGTTTCTTCG	0.408													5	226	---	---	---	---	0	0
OVCH1	341350	broad.mit.edu	37	12	29614858	29614858	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:29614858G>T	ENST00000318184.5	-	19	2208	c.2209C>A	c.(2209-2211)Cat>Aat	p.H737N	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	737	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCTCCTGGATGGGCAGAATAG	0.458													5	226	---	---	---	---	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43847793	43847793	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:43847793C>A	ENST00000389420.3	-	12	1676	c.1677G>T	c.(1675-1677)tgG>tgT	p.W559C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W559C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	559	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCCATGGTCCCCATTCACCAT	0.413													4	44	---	---	---	---	0	0
KMT2D	8085	broad.mit.edu	37	12	49415605	49415605	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:49415605G>T	ENST00000301067.7	-	54	16571	c.16572C>A	c.(16570-16572)ccC>ccA	p.P5524P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CACAGTGGCAGGGGATCTTGT	0.507													4	96	---	---	---	---	0	0
DIP2B	57609	broad.mit.edu	37	12	51126155	51126155	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:51126155G>T	ENST00000301180.5	+	32	3851	c.3817G>T	c.(3817-3819)Ggg>Tgg	p.G1273W		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1273						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GCAGACCAGAGGGATCAACCT	0.537													5	183	---	---	---	---	0	0
SCN8A	6334	broad.mit.edu	37	12	52145217	52145217	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:52145217C>A	ENST00000354534.6	+	14	2388	c.2210C>A	c.(2209-2211)cCc>cAc	p.P737H	SCN8A_ENST00000550891.1_Missense_Mutation_p.P737H|SCN8A_ENST00000545061.1_Missense_Mutation_p.P737H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GAGTGCCACCCCTACTGGATA	0.428													6	279	---	---	---	---	0	0
AAAS	8086	broad.mit.edu	37	12	53709129	53709129	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:53709129G>T	ENST00000209873.4	-	4	554	c.389C>A	c.(388-390)cCc>cAc	p.P130H	AAAS_ENST00000394384.3_Missense_Mutation_p.P130H|AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	130					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGACAGATGGGGGAACAGGGA	0.582													4	50	---	---	---	---	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876438	53876438	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:53876438C>A	ENST00000267079.2	-	12	2275	c.2050G>T	c.(2050-2052)Ggg>Tgg	p.G684W	MAP3K12_ENST00000547035.1_Missense_Mutation_p.G717W|MAP3K12_ENST00000547488.1_Missense_Mutation_p.G717W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	684					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCTGAGGTCCCTTCCCTTCCA	0.637													6	261	---	---	---	---	0	0
CBX5	23468	broad.mit.edu	37	12	54639979	54639979	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:54639979C>A	ENST00000209875.4	-	4	481	c.345G>T	c.(343-345)cgG>cgT	p.R115R	CBX5_ENST00000550411.1_Silent_p.R115R|CBX5_ENST00000439541.2_Silent_p.R115R	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	115					blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TCTCAAAGCCCCGAGCGATAT	0.413													7	371	---	---	---	---	0	0
OR6C1	390321	broad.mit.edu	37	12	55715238	55715238	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:55715238C>A	ENST00000379668.2	+	1	893	c.855C>A	c.(853-855)ccC>ccA	p.P285P		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGATGAACCCCTTTATTTACA	0.408													6	335	---	---	---	---	0	0
OR6C4	341418	broad.mit.edu	37	12	55945163	55945163	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:55945163C>A	ENST00000394256.2	+	1	181	c.153C>A	c.(151-153)ccC>ccA	p.P51P	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TACTAGACCCCCACCTCCAGA	0.418													9	596	---	---	---	---	0	0
ESYT1	23344	broad.mit.edu	37	12	56525301	56525301	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56525301G>T	ENST00000394048.5	+	6	1019	c.755G>T	c.(754-756)gGg>gTg	p.G252V	ESYT1_ENST00000267113.4_Missense_Mutation_p.G252V|ESYT1_ENST00000541590.1_Missense_Mutation_p.G252V	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	252						integral to membrane		p.G252V(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCACTCATTGGGGACCTTCCC	0.527													7	405	---	---	---	---	0	0
ESYT1	23344	broad.mit.edu	37	12	56527607	56527607	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56527607C>A	ENST00000394048.5	+	13	1687	c.1423C>A	c.(1423-1425)Ccg>Acg	p.P475T	ESYT1_ENST00000267113.4_Missense_Mutation_p.P475T|ESYT1_ENST00000541590.1_Missense_Mutation_p.P475T	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	475	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						ACCAGATCCCCCGTCAGCTGC	0.567													5	189	---	---	---	---	0	0
ESYT1	23344	broad.mit.edu	37	12	56531371	56531371	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56531371C>A	ENST00000394048.5	+	18	2291	c.2027C>A	c.(2026-2028)cCc>cAc	p.P676H	ESYT1_ENST00000267113.4_Missense_Mutation_p.P686H|ESYT1_ENST00000541590.1_Missense_Mutation_p.P686H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	676	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAGTCAGACCCCTATGTCAAA	0.512													7	332	---	---	---	---	0	0
STAT2	6773	broad.mit.edu	37	12	56743919	56743919	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56743919C>A	ENST00000314128.4	-	13	1194	c.1171G>T	c.(1171-1173)Ggg>Tgg	p.G391W	STAT2_ENST00000557235.1_Missense_Mutation_p.G387W|STAT2_ENST00000418572.2_Missense_Mutation_p.G387W			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	391					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGACTCTGCCCCTTCTCGGGG	0.408													6	271	---	---	---	---	0	0
BAZ2A	11176	broad.mit.edu	37	12	56997322	56997322	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56997322C>A	ENST00000179765.5	-	18	3310	c.3111G>T	c.(3109-3111)agG>agT	p.R1037S	BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1067S|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1039S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R1069S			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1069					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTCTTCGACCCCTGCGGCCAG	0.493													7	293	---	---	---	---	0	0
NACA	4666	broad.mit.edu	37	12	57109690	57109690	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:57109690G>T	ENST00000454682.1	-	3	5905	c.5624C>A	c.(5623-5625)cCc>cAc	p.P1875H	NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P722H|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	12					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTGGCAGAGGGGGTTGGGAC	0.572			T	BCL6	NHL								6	174	---	---	---	---	0	0
INHBE	83729	broad.mit.edu	37	12	57849951	57849951	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:57849951C>A	ENST00000266646.2	+	2	589	c.373C>A	c.(373-375)Cgc>Agc	p.R125S	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	125					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GTACCATGCCCGCCTGTGGCT	0.602											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	245	---	---	---	---	0	0
AGAP2	116986	broad.mit.edu	37	12	58126738	58126738	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:58126738C>A	ENST00000257897.3	-	6	651	c.566G>T	c.(565-567)cGg>cTg	p.R189L	AGAP2_ENST00000547588.1_Missense_Mutation_p.R525L	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	525	Interactions with HOMER1 and NF2 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCCCACCACCCGAGGGGAGGA	0.547													5	358	---	---	---	---	0	0
PTPRR	5801	broad.mit.edu	37	12	71095060	71095060	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:71095060C>A	ENST00000283228.2	-	7	1503	c.1051G>T	c.(1051-1053)Ggg>Tgg	p.G351W	PTPRR_ENST00000342084.4_Missense_Mutation_p.G239W|PTPRR_ENST00000440835.2_Missense_Mutation_p.G106W|PTPRR_ENST00000549308.1_Missense_Mutation_p.G106W|PTPRR_ENST00000378778.1_Missense_Mutation_p.G145W	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	351					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCAATGTTCCCCAAGCTACTC	0.428													5	169	---	---	---	---	0	0
LGR5	8549	broad.mit.edu	37	12	71898436	71898436	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:71898436C>A	ENST00000266674.5	+	2	566	c.255C>A	c.(253-255)ccC>ccA	p.P85P	LGR5_ENST00000536515.1_Silent_p.P85P|LGR5_ENST00000540815.2_Silent_p.P85P			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	85						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCCGAATCCCCTGCCCAGTC	0.502													8	484	---	---	---	---	0	0
TRHDE	29953	broad.mit.edu	37	12	72667052	72667052	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:72667052G>T	ENST00000261180.4	+	1	590	c.494G>T	c.(493-495)gGg>gTg	p.G165V	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	165					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCTTCTCCGGGGAGGTCAAC	0.652													4	78	---	---	---	---	0	0
NAP1L1	4673	broad.mit.edu	37	12	76443026	76443026	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:76443026C>A	ENST00000261182.8	-	14	1580	c.1094G>T	c.(1093-1095)gGg>gTg	p.G365V	NAP1L1_ENST00000393263.3_Missense_Mutation_p.G365V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.G297V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.G182V|NAP1L1_ENST00000535020.2_3'UTR|NAP1L1_ENST00000547773.1_Missense_Mutation_p.G302V|NAP1L1_ENST00000549596.1_3'UTR|NAP1L1_ENST00000542344.1_Missense_Mutation_p.G323V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	365	Asp/Glu-rich (acidic).				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TTCTTCTTCCCCTTCCTATAT	0.343													6	171	---	---	---	---	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77222206	77222206	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:77222206C>A	ENST00000426126.2	+	10	1726	c.1077C>A	c.(1075-1077)ccC>ccA	p.P359P	ZDHHC17_ENST00000334822.5_Silent_p.P359P	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	359					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GTGCATTGCCCCTTGGGATAT	0.313													9	678	---	---	---	---	0	0
SYT1	6857	broad.mit.edu	37	12	79837937	79837937	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:79837937C>A	ENST00000261205.4	+	10	1670	c.1013C>A	c.(1012-1014)cCc>cAc	p.P338H	SYT1_ENST00000393240.3_Missense_Mutation_p.P338H|SYT1_ENST00000552744.1_Missense_Mutation_p.P338H|SYT1_ENST00000457153.2_Missense_Mutation_p.P335H|RP1-78O14.1_ENST00000550268.1_lincRNA	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	338	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACACTTAACCCCTACTACAAT	0.363													6	326	---	---	---	---	0	0
CCER1	196477	broad.mit.edu	37	12	91347703	91347703	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:91347703G>T	ENST00000358859.2	-	1	1250	c.817C>A	c.(817-819)Ccg>Acg	p.P273T	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		accAGCAGCGGGGCAAGAGAC	0.522													8	587	---	---	---	---	0	0
SLC25A3	5250	broad.mit.edu	37	12	98989599	98989599	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:98989599C>A	ENST00000188376.5	+	2	606	c.252C>A	c.(250-252)ccC>ccA	p.P84P	SLC25A3_ENST00000548847.1_Silent_p.P84P|SLC25A3_ENST00000228318.3_Intron|SLC25A3_ENST00000549338.1_Silent_p.P84P|SLC25A3_ENST00000401722.3_Silent_p.P84P|SLC25A3_ENST00000551917.1_Intron|SLC25A3_ENST00000552981.1_Silent_p.P84P|SLC25A3_ENST00000547534.1_Silent_p.P84P	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	85					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		CTGTGGTTCCCCTGGATTTAG	0.408													7	203	---	---	---	---	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158274	102158274	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:102158274G>T	ENST00000299314.7	-	13	2683	c.2421C>A	c.(2419-2421)ccC>ccA	p.P807P		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	807					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCAAGTCCAGGGGTGGATTCT	0.458													7	323	---	---	---	---	0	0
NUP37	79023	broad.mit.edu	37	12	102512208	102512208	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:102512208C>A	ENST00000552283.1	-	2	228	c.89G>T	c.(88-90)gGg>gTg	p.G30V	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.G30V			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	30					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TCCTGAATCCCCATTCTCAAA	0.408													6	328	---	---	---	---	0	0
SART3	9733	broad.mit.edu	37	12	108931915	108931915	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:108931915G>T	ENST00000228284.3	-	8	1361	c.1127C>A	c.(1126-1128)cCc>cAc	p.P376H	SART3_ENST00000431469.2_Missense_Mutation_p.P376H	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	376					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AACTGTCCAGGGGCAGTTTCT	0.418									Porokeratosis				7	196	---	---	---	---	0	0
USP30	84749	broad.mit.edu	37	12	109522779	109522779	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:109522779C>A	ENST00000257548.5	+	12	1283	c.1190C>A	c.(1189-1191)cCc>cAc	p.P397H	USP30_ENST00000392784.2_Missense_Mutation_p.P366H	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	397					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCAGGGGCCCCCAAAACACAG	0.493													8	546	---	---	---	---	0	0
ATP2A2	488	broad.mit.edu	37	12	110771909	110771909	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:110771909G>T	ENST00000395494.2	+	10	1862	c.1299G>T	c.(1297-1299)aaG>aaT	p.K433N	ATP2A2_ENST00000308664.6_Missense_Mutation_p.K460N|ATP2A2_ENST00000539276.2_Missense_Mutation_p.K460N			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	460					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCGAATTGAAGGGTCTTTCTA	0.388													6	359	---	---	---	---	0	0
ATXN2	6311	broad.mit.edu	37	12	111893858	111893858	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:111893858G>T	ENST00000377617.3	-	23	3880	c.3719C>A	c.(3718-3720)cCa>cAa	p.P1240Q	ATXN2_ENST00000608853.1_Missense_Mutation_p.P1080Q|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.P975Q|ATXN2_ENST00000535949.1_Missense_Mutation_p.P933Q|ATXN2_ENST00000389153.4_Missense_Mutation_p.P977Q	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1240					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	p.P1240Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CATGTGGGGTGGGTTGGTATA	0.517													6	251	---	---	---	---	0	0
TRAFD1	10906	broad.mit.edu	37	12	112589916	112589916	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:112589916C>A	ENST00000257604.5	+	10	2208	c.1591C>A	c.(1591-1593)Cct>Act	p.P531T	TRAFD1_ENST00000412615.2_Missense_Mutation_p.P531T	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	531					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	p.P531T(1)		kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CTCTTTCTCCCCTGGGCCTTC	0.547													6	253	---	---	---	---	0	0
HECTD4	283450	broad.mit.edu	37	12	112622379	112622379	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:112622379G>T	ENST00000550722.1	-	61	10348	c.9953C>A	c.(9952-9954)cCc>cAc	p.P3318H	HECTD4_ENST00000430131.2_Missense_Mutation_p.P3042H|HECTD4_ENST00000377560.5_Missense_Mutation_p.P3292H	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTCTGTGCCGGGGAAGGCCAG	0.632													5	55	---	---	---	---	0	0
TPCN1	53373	broad.mit.edu	37	12	113698209	113698209	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:113698209C>A	ENST00000550785.1	+	4	534	c.365C>A	c.(364-366)cCc>cAc	p.P122H	TPCN1_ENST00000541517.1_Missense_Mutation_p.P122H|TPCN1_ENST00000335509.6_Missense_Mutation_p.P50H|TPCN1_ENST00000392569.4_5'UTR	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	50						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCCAGGCCCCCAGTCTCAGC	0.562													4	73	---	---	---	---	0	0
TAOK3	51347	broad.mit.edu	37	12	118693363	118693363	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:118693363C>A	ENST00000392533.3	-	3	500	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	TAOK3_ENST00000419821.2_Missense_Mutation_p.G4W	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	4					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCAGCACCCCTTTACGCATG	0.413													6	379	---	---	---	---	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582545	120582545	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:120582545G>T	ENST00000300648.6	-	41	5262	c.5250C>A	c.(5248-5250)ccC>ccA	p.P1750P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1750					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGGACATGGGGTGCAATGT	0.512													7	320	---	---	---	---	0	0
VPS37B	79720	broad.mit.edu	37	12	123355528	123355528	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:123355528G>T	ENST00000267202.2	-	2	573	c.192C>A	c.(190-192)ccC>ccA	p.P64P		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	64	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TGTCCAGCTGGGGCTGGTACA	0.453													6	277	---	---	---	---	0	0
SBNO1	55206	broad.mit.edu	37	12	123812310	123812310	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:123812310C>A	ENST00000420886.2	-	11	1481	c.1482G>T	c.(1480-1482)tgG>tgT	p.W494C	SBNO1_ENST00000602398.1_Missense_Mutation_p.W494C|SBNO1_ENST00000602750.1_Missense_Mutation_p.W493C|SBNO1_ENST00000267176.4_Missense_Mutation_p.W493C	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	494							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TACCCTCACCCCATATGCCAA	0.378													5	135	---	---	---	---	0	0
GPR133	283383	broad.mit.edu	37	12	131487813	131487813	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:131487813C>A	ENST00000261654.5	+	10	1669	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	GPR133_ENST00000535015.1_Silent_p.P402P|GPR133_ENST00000376682.4_Silent_p.P56P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	370					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCAGCACGCCCCAGGTCACCG	0.622													5	145	---	---	---	---	0	0
POLE	5426	broad.mit.edu	37	12	133233834	133233834	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:133233834G>T	ENST00000320574.5	-	29	3513	c.3470C>A	c.(3469-3471)cCa>cAa	p.P1157Q	POLE_ENST00000535270.1_Missense_Mutation_p.P1130Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1157					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACGTGGCACTGGGTTCTTTAC	0.532								DNA polymerases (catalytic subunits)					5	151	---	---	---	---	0	0
PSPC1	55269	broad.mit.edu	37	13	20356679	20356679	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:20356679C>A	ENST00000338910.4	-	1	378	c.219G>T	c.(217-219)ccG>ccT	p.P73P		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TCTTCTCGCCCGGCTTGAGGA	0.642													4	90	---	---	---	---	0	0
RNF17	56163	broad.mit.edu	37	13	25416253	25416253	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:25416253A>G	ENST00000255324.5	+	19	2609	c.2557A>G	c.(2557-2559)Att>Gtt	p.I853V	RNF17_ENST00000381921.1_Missense_Mutation_p.I853V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	853					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.I853V(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TACTACTAGTATTAATGACCA	0.343													55	127	---	---	---	---	0	0
LNX2	0	broad.mit.edu	37	13	28136686	28136686	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:28136686C>A	ENST00000316334.3	-	5	1217	c.1088G>T	c.(1087-1089)gGg>gTg	p.G363V		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	363	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AATAAAAACCCCTGGCTCATC	0.522													7	295	---	---	---	---	0	0
TEX26	122046	broad.mit.edu	37	13	31531071	31531071	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:31531071C>A	ENST00000380473.3	+	4	387	c.374C>A	c.(373-375)cCt>cAt	p.P125H		NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	125																	AACTGCCTCCCTTGGAAAATC	0.388													5	117	---	---	---	---	0	0
KL	9365	broad.mit.edu	37	13	33635044	33635044	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:33635044C>A	ENST00000380099.3	+	4	1836	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	610	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TAACCAGTCCCAGGTGAACCA	0.582													5	182	---	---	---	---	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543054	46543054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:46543054G>T	ENST00000242848.4	-	14	3973	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T	ZC3H13_ENST00000282007.3_Missense_Mutation_p.P1209T|ZC3H13_ENST00000378921.2_Missense_Mutation_p.P165T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1209	Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCATTGGATGGGGAGCGAAGA	0.498													7	211	---	---	---	---	0	0
LRCH1	23143	broad.mit.edu	37	13	47269054	47269054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:47269054G>T	ENST00000311191.6	+	9	1376	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	LRCH1_ENST00000389797.3_Nonsense_Mutation_p.E383*|LRCH1_ENST00000389798.3_Nonsense_Mutation_p.E383*	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	383								p.E383*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATTTCAACCGGAGCCTTCCCT	0.408													84	82	---	---	---	---	0	0
INTS6	26512	broad.mit.edu	37	13	51961586	51961586	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:51961586C>A	ENST00000311234.4	-	7	1302	c.830G>T	c.(829-831)gGg>gTg	p.G277V	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000463928.1_Missense_Mutation_p.G277V|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.G264V|INTS6_ENST00000497989.1_Missense_Mutation_p.G99V	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	277					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TATAGGAACCCCAGTTTTAGG	0.423													5	182	---	---	---	---	0	0
ATP7B	540	broad.mit.edu	37	13	52524476	52524476	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:52524476C>A	ENST00000242839.4	-	10	2663	c.2507G>T	c.(2506-2508)gGg>gTg	p.G836V	ATP7B_ENST00000418097.2_Missense_Mutation_p.G836V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G758V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G725V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.G674V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G108V|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	836					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AAACTTTCCCCCAGGGACCAC	0.547									Wilson disease				4	79	---	---	---	---	0	0
ATP7B	540	broad.mit.edu	37	13	52548505	52548505	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:52548505C>A	ENST00000242839.4	-	2	1007	c.851G>T	c.(850-852)gGg>gTg	p.G284V	ATP7B_ENST00000418097.2_Missense_Mutation_p.G284V|ATP7B_ENST00000542656.1_Missense_Mutation_p.G252V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G284V|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000400370.3_Missense_Mutation_p.G284V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G284V|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	284	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACTTTGAACCCCTAGGAGCTG	0.468									Wilson disease				7	191	---	---	---	---	0	0
PCDH20	64881	broad.mit.edu	37	13	61986618	61986618	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:61986618G>T	ENST00000409186.1	-	5	3719	c.1614C>A	c.(1612-1614)ccC>ccA	p.P538P	PCDH20_ENST00000409204.4_Silent_p.P538P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	511	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTTCTATTAAGGGTTGAAGGA	0.423													7	448	---	---	---	---	0	0
PCDH9	5101	broad.mit.edu	37	13	67801206	67801206	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:67801206C>A	ENST00000544246.1	-	2	2058	c.1367G>T	c.(1366-1368)aGg>aTg	p.R456M	PCDH9_ENST00000328454.5_Missense_Mutation_p.R456M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R456M|PCDH9_ENST00000377865.2_Missense_Mutation_p.R456M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R456M	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	456	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGCTTAACCCTTACCAGGGC	0.423													5	189	---	---	---	---	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327880	88327880	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:88327880C>A	ENST00000325089.6	+	2	456	c.237C>A	c.(235-237)ccC>ccA	p.P79P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	79						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTAGCCCTCCCCGTTTCCCAA	0.453													7	450	---	---	---	---	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328403	88328403	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:88328403T>C	ENST00000325089.6	+	2	979	c.760T>C	c.(760-762)Tcc>Ccc	p.S254P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	254	LRRCT 1.					integral to membrane		p.S254P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGACAGCATCTCCTATTCAGC	0.507													75	242	---	---	---	---	0	0
DOCK9	23348	broad.mit.edu	37	13	99554604	99554604	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:99554604C>A	ENST00000376460.1	-	12	1398	c.1318G>T	c.(1318-1320)Ggg>Tgg	p.G440W	DOCK9_ENST00000442173.1_Missense_Mutation_p.G440W|DOCK9_ENST00000448493.2_Missense_Mutation_p.G452W|DOCK9_ENST00000339416.2_Missense_Mutation_p.G441W	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	441					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCTCTGCCCACTGCCATTC	0.552													4	62	---	---	---	---	0	0
TMTC4	84899	broad.mit.edu	37	13	101257324	101257324	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:101257324G>T	ENST00000342624.5	-	19	2465	c.2207C>A	c.(2206-2208)cCc>cAc	p.P736H	TMTC4_ENST00000376234.3_Missense_Mutation_p.P717H|TMTC4_ENST00000328767.5_Missense_Mutation_p.P606H	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	717						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGATGCCGTGGGGTCAAGCTG	0.428													6	321	---	---	---	---	0	0
GRK1	6011	broad.mit.edu	37	13	114324001	114324001	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:114324001G>T	ENST00000335678.6	+	2	931		c.e2-1			NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1						regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TCACTTTTCAGGGTGCTATGG	0.537													6	372	---	---	---	---	0	0
TEP1	7011	broad.mit.edu	37	14	20864042	20864042	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:20864042G>T	ENST00000262715.5	-	11	1766	c.1726C>A	c.(1726-1728)Ctc>Atc	p.L576I	TEP1_ENST00000556935.1_Missense_Mutation_p.L468I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	576	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGAGCCTCGAGGGCATCAATG	0.468													4	116	---	---	---	---	0	0
OR6S1	341799	broad.mit.edu	37	14	21109838	21109838	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:21109838C>A	ENST00000320704.3	-	1	12	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGTGGTTCCCATCAGGACTC	0.438													6	306	---	---	---	---	0	0
METTL3	56339	broad.mit.edu	37	14	21967909	21967909	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:21967909C>A	ENST00000298717.4	-	7	1493	c.1342G>T	c.(1342-1344)Ggg>Tgg	p.G448W		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	448					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ACTACTTACCCCCAGAGATTT	0.378													6	285	---	---	---	---	0	0
ACIN1	22985	broad.mit.edu	37	14	23531693	23531693	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:23531693C>A	ENST00000262710.1	-	15	3424	c.3097G>T	c.(3097-3099)Ggg>Tgg	p.G1033W	ACIN1_ENST00000357481.2_Missense_Mutation_p.G275W|ACIN1_ENST00000605057.1_Missense_Mutation_p.G975W|ACIN1_ENST00000338631.6_Missense_Mutation_p.G306W|ACIN1_ENST00000555053.1_Missense_Mutation_p.G1020W|ACIN1_ENST00000557515.1_Missense_Mutation_p.G274W|ACIN1_ENST00000397341.3_Missense_Mutation_p.G275W|ACIN1_ENST00000457657.1_Missense_Mutation_p.G993W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1033					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCTGTGCGCCCCAACAACTCC	0.478													6	388	---	---	---	---	0	0
TGM1	7051	broad.mit.edu	37	14	24729790	24729790	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:24729790C>A	ENST00000206765.6	-	4	746	c.623G>T	c.(622-624)cGg>cTg	p.R208L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	208					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGTGTGGACCCGCAGGTTCAG	0.607													4	157	---	---	---	---	0	0
NOVA1	4857	broad.mit.edu	37	14	26949216	26949216	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:26949216G>T	ENST00000539517.2	-	3	731	c.414C>A	c.(412-414)ccC>ccA	p.P138P	NOVA1_ENST00000574031.1_Silent_p.P138P|NOVA1_ENST00000344429.5_Silent_p.P138P|NOVA1_ENST00000547619.1_Silent_p.P138P|NOVA1_ENST00000267422.7_Silent_p.P16P|NOVA1_ENST00000465357.2_Silent_p.P138P	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	141					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CGGTGGTCTGGGGTTGTAGAA	0.408													6	380	---	---	---	---	0	0
BNIP3P1	0	broad.mit.edu	37	14	28733959	28733959	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:28733959C>A	ENST00000550043.1	+	0	364																											TGTGACAGCCCACCTCGCTCA	0.463													6	174	---	---	---	---	0	0
LRFN5	145581	broad.mit.edu	37	14	42360791	42360791	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:42360791G>T	ENST00000298119.4	+	4	2913	c.1724G>T	c.(1723-1725)gGg>gTg	p.G575V	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	575						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAAACTAACGGGGCTCAAATA	0.458										HNSCC(30;0.082)			5	135	---	---	---	---	0	0
NIN	51199	broad.mit.edu	37	14	51288706	51288706	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:51288706C>A	ENST00000245441.5	-	3	259	c.69G>T	c.(67-69)acG>acT	p.T23T	NIN_ENST00000453196.1_Silent_p.T23T|NIN_ENST00000382043.4_Silent_p.T23T|NIN_ENST00000389868.3_Silent_p.T23T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Silent_p.T23T|NIN_ENST00000382041.3_Silent_p.T23T|NIN_ENST00000324330.9_Silent_p.T23T	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	23	EF-hand 1.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACCCTGTGCCCGTCGTGTCAA	0.577			T	PDGFRB	MPD								6	371	---	---	---	---	0	0
SOCS4	122809	broad.mit.edu	37	14	55510674	55510674	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:55510674G>T	ENST00000395472.2	+	2	1247	c.915G>T	c.(913-915)gaG>gaT	p.E305D	SOCS4_ENST00000339298.2_Missense_Mutation_p.E305D|SOCS4_ENST00000555846.1_Missense_Mutation_p.E305D	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	305	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GAAAACCAGAGGGTACCTTTT	0.428													6	267	---	---	---	---	0	0
SNAPC1	6617	broad.mit.edu	37	14	62245576	62245576	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:62245576G>T	ENST00000216294.4	+	7	877	c.773G>T	c.(772-774)aGg>aTg	p.R258M		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	258	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGATGTGAAAGGGCAGAATCA	0.289													5	151	---	---	---	---	0	0
SYNE2	23224	broad.mit.edu	37	14	64518896	64518896	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:64518896C>A	ENST00000358025.3	+	48	8495	c.8265C>A	c.(8263-8265)ccC>ccA	p.P2755P	SYNE2_ENST00000344113.4_Silent_p.P2755P|SYNE2_ENST00000554584.1_Silent_p.P2788P|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2755					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTCCATTCCCCTTCTCCCAG	0.428													8	408	---	---	---	---	0	0
SYNE2	23224	broad.mit.edu	37	14	64593108	64593108	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:64593108C>A	ENST00000357395.3	+	73	13917	c.2773C>A	c.(2773-2775)Ctc>Atc	p.L925I	SYNE2_ENST00000344113.4_Missense_Mutation_p.L4540I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4491I|SYNE2_ENST00000394768.2_Missense_Mutation_p.L925I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4540I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.L1174I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4540					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTCCTGACCCTCAGTCAGTG	0.423													5	151	---	---	---	---	0	0
SPTB	6710	broad.mit.edu	37	14	65220429	65220429	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:65220429C>A	ENST00000389722.3	-	32	6481	c.6428G>T	c.(6427-6429)gGg>gTg	p.G2143V	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000556626.1_Missense_Mutation_p.G2143V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTCTCATCCCCAGTGGATTT	0.647													5	168	---	---	---	---	0	0
GPHN	10243	broad.mit.edu	37	14	67610144	67610144	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:67610144G>T	ENST00000478722.1	+	18	2935	c.1814G>T	c.(1813-1815)gGg>gTg	p.G605V	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.G541V|GPHN_ENST00000315266.5_Missense_Mutation_p.G572V|GPHN_ENST00000543237.1_Missense_Mutation_p.G618V	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	572	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATCACATCAGGGGGTGTATCC	0.423			T	MLL	AL								7	269	---	---	---	---	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256411	69256411	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:69256411G>T	ENST00000439696.2	-	2	1157	c.856C>A	c.(856-858)Cct>Act	p.P286T	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.P286T	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	286					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AACATGTGAGGGGACTCGGAC	0.652											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	161	---	---	---	---	0	0
PAPLN	89932	broad.mit.edu	37	14	73730438	73730438	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:73730438C>A	ENST00000427855.1	+	20	2911	c.2809C>A	c.(2809-2811)Ccg>Acg	p.P937T	PAPLN_ENST00000340738.5_Missense_Mutation_p.P910T|PAPLN_ENST00000554301.1_Missense_Mutation_p.P937T|PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000381166.3_Missense_Mutation_p.P937T|PAPLN_ENST00000555445.1_Missense_Mutation_p.P921T			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	937	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGACACTGCCCCGGAATCCCA	0.642													4	74	---	---	---	---	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876080	74876080	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:74876080C>A	ENST00000331628.3	-	2	615	c.368G>T	c.(367-369)gGg>gTg	p.G123V	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.G123V	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	123					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CTCTTGTACCCCATAGGACAC	0.572													6	387	---	---	---	---	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76633061	76633061	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:76633061G>T	ENST00000261530.7	+	3	784	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	GPATCH2L_ENST00000557263.1_Missense_Mutation_p.G240W|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.G240W|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.G240W	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		CAATGATGAAGGGCGACAAGG	0.433													4	59	---	---	---	---	0	0
FLRT2	23768	broad.mit.edu	37	14	86088951	86088951	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:86088951C>A	ENST00000330753.4	+	2	1860	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T	FLRT2_ENST00000554746.1_Missense_Mutation_p.P365T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	365					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CACCACGACCCCCGGCCTGCC	0.572													5	153	---	---	---	---	0	0
KCNK13	56659	broad.mit.edu	37	14	90650658	90650658	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:90650658G>T	ENST00000282146.4	+	2	979	c.538G>T	c.(538-540)Ggg>Tgg	p.G180W		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	180						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GAAGGATGCGGGGCAGTGTGA	0.632													6	187	---	---	---	---	0	0
CATSPERB	79820	broad.mit.edu	37	14	92102831	92102831	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:92102831G>T	ENST00000256343.3	-	17	1836	c.1680C>A	c.(1678-1680)ccC>ccA	p.P560P		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	560					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCGTTTCCTGGGGTTCGTTCT	0.428													6	207	---	---	---	---	0	0
UNC79	57578	broad.mit.edu	37	14	93994952	93994952	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:93994952C>A	ENST00000553484.1	+	9	1166	c.1012C>A	c.(1012-1014)Ccg>Acg	p.P338T	UNC79_ENST00000393151.2_Missense_Mutation_p.P338T|UNC79_ENST00000555664.1_Missense_Mutation_p.P338T|UNC79_ENST00000256339.4_Missense_Mutation_p.P161T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	338						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAAACCACCCCCGTTGTATCT	0.403													5	180	---	---	---	---	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756493	94756493	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:94756493C>A	ENST00000554723.1	-	2	976	c.558G>T	c.(556-558)aaG>aaT	p.K186N	SERPINA10_ENST00000554173.1_Missense_Mutation_p.K146N|SERPINA10_ENST00000393096.1_Missense_Mutation_p.K146N|SERPINA10_ENST00000261994.4_Missense_Mutation_p.K146N			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	146					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTCTGAGTCCCTTAAAGAGGG	0.572													6	185	---	---	---	---	0	0
DICER1	23405	broad.mit.edu	37	14	95557424	95557424	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:95557424G>T	ENST00000541352.1	-	24	5395	c.5387C>A	c.(5386-5388)cCc>cAc	p.P1796H	DICER1_ENST00000343455.3_Silent_p.P1850P|DICER1_ENST00000556045.1_Silent_p.P748P|DICER1_ENST00000393063.1_Silent_p.P1850P|DICER1_ENST00000526495.1_Silent_p.P1850P|DICER1_ENST00000527414.1_Silent_p.P1850P|DICER1_ENST00000527416.2_5'UTR	NM_001195573.1	NP_001182502.1	Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	0	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAGGGGAACGGGGTACATTTG	0.303			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				5	138	---	---	---	---	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102472334	102472334	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:102472334C>A	ENST00000360184.4	+	27	5707	c.5543C>A	c.(5542-5544)cCt>cAt	p.P1848H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1848	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACTTTGACCCTAAGCAAACT	0.418													6	301	---	---	---	---	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500413	102500413	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:102500413G>T	ENST00000360184.4	+	55	10678	c.10514G>T	c.(10513-10515)gGg>gTg	p.G3505V	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3505					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCATTGCTGGGGACTGTCTC	0.488													8	398	---	---	---	---	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103601680	103601680	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:103601680C>A	ENST00000560869.1	+	12	2587	c.1948C>A	c.(1948-1950)Ctt>Att	p.L650I	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.L319I|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.L133I|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.L650I			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	650					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CCTATTTTCCCTTATAAAGGT	0.597													6	354	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409232	105409232	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:105409232G>T	ENST00000333244.5	-	7	12675	c.12556C>A	c.(12556-12558)Cct>Act	p.P4186T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4186						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGGAAGGGGACTGAATG	0.657													9	344	---	---	---	---	0	0
IGHV3-23	0	broad.mit.edu	37	14	106725471	106725471	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:106725471C>A	ENST00000390609.2	-	0	159																											CCAAGCCTCCCCCAGACTCCA	0.557													6	217	---	---	---	---	0	0
SNHG14	0	broad.mit.edu	37	15	25444499	25444499	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:25444499G>T	ENST00000424208.1	+	0	1772				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GCTGAAGCGCGGGACCTACCT	0.632													4	79	---	---	---	---	0	0
HERC2	8924	broad.mit.edu	37	15	28370323	28370323	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:28370323C>A	ENST00000261609.7	-	84	12927	c.12819G>T	c.(12817-12819)tgG>tgT	p.W4273C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4273					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATTGTCGCCCCATGTATAAA	0.522													7	304	---	---	---	---	0	0
EMC4	51234	broad.mit.edu	37	15	34520689	34520689	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:34520689G>T	ENST00000267750.4	+	4	531	c.415G>T	c.(415-417)Ggg>Tgg	p.G139W	EMC4_ENST00000559078.1_Intron|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000249209.4_Intron	NM_016454.2	NP_057538.1			ER membrane protein complex subunit 4																		CTATCTCATTGGGAACCTGAT	0.448													7	400	---	---	---	---	0	0
MEIS2	4212	broad.mit.edu	37	15	37184642	37184642	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:37184642C>A	ENST00000338564.5	-	13	1591	c.1145G>T	c.(1144-1146)gGg>gTg	p.G382V	MEIS2_ENST00000561208.1_Missense_Mutation_p.G389V|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.G382V|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000340545.5_3'UTR	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	389					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.G389V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AACGTAGTCCCCTGGCATGCT	0.433													7	404	---	---	---	---	0	0
VPS18	57617	broad.mit.edu	37	15	41192388	41192388	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:41192388C>A	ENST00000220509.5	+	4	1711	c.1372C>A	c.(1372-1374)Ctc>Atc	p.L458I	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	458					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAGATTGCCCTCAAGTTCCT	0.617													5	163	---	---	---	---	0	0
CKMT1B	1159	broad.mit.edu	37	15	43891443	43891443	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:43891443C>A	ENST00000300283.6	+	10	1618	c.1226C>A	c.(1225-1227)cCc>cAc	p.P409H	CKMT1B_ENST00000441322.1_Missense_Mutation_p.P409H	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	409					creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	ATCCGCATCCCCACACCTGTC	0.502													5	159	---	---	---	---	0	0
CASC4	113201	broad.mit.edu	37	15	44671971	44671971	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:44671971C>A	ENST00000299957.6	+	7	1185	c.886C>A	c.(886-888)Cca>Aca	p.P296T	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.P296T	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	296						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACCTCTCTCCCCAAATATGCC	0.353													6	294	---	---	---	---	0	0
HDC	3067	broad.mit.edu	37	15	50534614	50534614	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:50534614C>A	ENST00000267845.3	-	12	2234	c.1832G>T	c.(1831-1833)aGg>aTg	p.R611M	HDC_ENST00000543581.1_Missense_Mutation_p.R578M	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	611					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GATTCTGACCCTGGAGGAGCC	0.502													7	395	---	---	---	---	0	0
DMXL2	23312	broad.mit.edu	37	15	51763506	51763506	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:51763506G>T	ENST00000251076.5	-	29	7590	c.7303C>A	c.(7303-7305)Cca>Aca	p.P2435T	DMXL2_ENST00000543779.2_Missense_Mutation_p.P2436T|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.P1799T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2435						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCGGTGGTGGGGTAGCATCT	0.433													7	426	---	---	---	---	0	0
MYO5A	4644	broad.mit.edu	37	15	52675337	52675337	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:52675337G>T	ENST00000399231.3	-	16	2206	c.1963C>A	c.(1963-1965)Cct>Act	p.P655T	MYO5A_ENST00000356338.6_Missense_Mutation_p.P655T|MYO5A_ENST00000358212.6_Missense_Mutation_p.P655T|MYO5A_ENST00000399233.2_Missense_Mutation_p.P655T|MYO5A_ENST00000553916.1_Missense_Mutation_p.P655T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	655	Actin-binding (Potential).|Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACATAGTGAGGGGTAGTGGCA	0.438													7	293	---	---	---	---	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081150	53081150	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:53081150G>T	ENST00000305901.5	-	1	1059	c.932C>A	c.(931-933)cCa>cAa	p.P311Q	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	311					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GATGGCCTGTGGGATGCTGTA	0.602													4	133	---	---	---	---	0	0
DYX1C1	161582	broad.mit.edu	37	15	55742473	55742473	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:55742473G>T	ENST00000321149.3	-	6	1097	c.730C>A	c.(730-732)Cct>Act	p.P244T	DYX1C1_ENST00000380679.1_Missense_Mutation_p.P244T|DYX1C1_ENST00000348518.3_Missense_Mutation_p.P244T|DYX1C1_ENST00000457155.2_Missense_Mutation_p.P244T|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.P244T	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	244					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AATACTCGAGGGGTAAAGTTG	0.363													5	162	---	---	---	---	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58306166	58306166	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:58306166G>A	ENST00000249750.4	-	3	1020	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	85					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.R85S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AAAGCCAGGCGGGCTGCCTGC	0.498													7	547	---	---	---	---	0	0
SLTM	79811	broad.mit.edu	37	15	59180632	59180632	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:59180632C>A	ENST00000380516.2	-	17	2414	c.2327G>T	c.(2326-2328)aGg>aTg	p.R776M	SLTM_ENST00000536328.1_Missense_Mutation_p.R345M	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	776	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAACCTGCCCCTCTCTCGGTG	0.388													6	228	---	---	---	---	0	0
MYO1E	4643	broad.mit.edu	37	15	59510201	59510201	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:59510201C>A	ENST00000288235.4	-	10	1395	c.996G>T	c.(994-996)tgG>tgT	p.W332C		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	332	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		ATTTGCCTCCCCACTTGCTAT	0.517													6	269	---	---	---	---	0	0
SPESP1	246777	broad.mit.edu	37	15	69238017	69238017	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:69238017C>A	ENST00000310673.3	+	2	298	c.144C>A	c.(142-144)ccC>ccA	p.P48P	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	48					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GAAGTGTTCCCTCTGGGGAGC	0.373													7	227	---	---	---	---	0	0
TLE3	7090	broad.mit.edu	37	15	70358460	70358460	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:70358460G>T	ENST00000558939.1	-	7	1847	c.470C>A	c.(469-471)cCc>cAc	p.P157H	TLE3_ENST00000440567.3_Missense_Mutation_p.P150H|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000557907.1_Missense_Mutation_p.P157H|TLE3_ENST00000559929.1_Missense_Mutation_p.P167H|TLE3_ENST00000442299.2_Missense_Mutation_p.P157H|TLE3_ENST00000560939.1_Missense_Mutation_p.P162H|TLE3_ENST00000558201.1_Missense_Mutation_p.P163H|TLE3_ENST00000559048.1_Missense_Mutation_p.P162H|TLE3_ENST00000451782.2_Missense_Mutation_p.P157H|TLE3_ENST00000558379.1_Missense_Mutation_p.P157H|TLE3_ENST00000560589.1_Missense_Mutation_p.P101H|TLE3_ENST00000557997.1_Missense_Mutation_p.P157H|TLE3_ENST00000317509.8_Missense_Mutation_p.P157H|TLE3_ENST00000539550.1_Missense_Mutation_p.P101H	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	157	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTCACTGGGGGGATTCCTGG	0.667													4	47	---	---	---	---	0	0
PARP6	56965	broad.mit.edu	37	15	72553902	72553902	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:72553902G>T	ENST00000569795.1	-	9	1229	c.542C>A	c.(541-543)cCc>cAc	p.P181H	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.P181H|PARP6_ENST00000287196.9_Missense_Mutation_p.P181H			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	181							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CACTTACTTGGGGATGGGTGA	0.488													6	386	---	---	---	---	0	0
C15orf59	388135	broad.mit.edu	37	15	74043425	74043425	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:74043425G>T	ENST00000569673.1	-	2	1251	c.47C>A	c.(46-48)cCc>cAc	p.P16H	C15orf59_ENST00000379822.4_Missense_Mutation_p.P16H			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	16										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACCACTGCTGGGGTCGTCACT	0.652													5	106	---	---	---	---	0	0
PML	5371	broad.mit.edu	37	15	74328275	74328275	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:74328275C>A	ENST00000268059.6	+	8	2569	c.2473C>A	c.(2473-2475)Cgt>Agt	p.R825S	PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.R777S|PML_ENST00000268058.3_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCAGGCGCCCGTCAAGCAGG	0.622			T	"""RARA, PAX5"""	"""APL, ALL"""								7	424	---	---	---	---	0	0
EDC3	80153	broad.mit.edu	37	15	74948192	74948192	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:74948192C>A	ENST00000315127.4	-	4	883	c.702G>T	c.(700-702)cgG>cgT	p.R234R	EDC3_ENST00000426797.3_Silent_p.R234R|EDC3_ENST00000568176.1_Silent_p.R234R	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	234	Required for interaction with DDX6 (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTGGGATGCCCCGGGAACGGG	0.498													5	185	---	---	---	---	0	0
BTBD1	53339	broad.mit.edu	37	15	83698965	83698965	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:83698965C>A	ENST00000261721.4	-	5	1180	c.978G>T	c.(976-978)agG>agT	p.R326S	RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.R326S	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	326						cytoplasmic mRNA processing body|protein complex	protein binding	p.R326R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATTCCTTTCCCCTGAGACAGC	0.453													9	613	---	---	---	---	0	0
TM6SF1	53346	broad.mit.edu	37	15	83781633	83781633	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:83781633C>A	ENST00000322019.9	+	2	451	c.177C>A	c.(175-177)ccC>ccA	p.P59P	TM6SF1_ENST00000379390.6_Silent_p.P59P|TM6SF1_ENST00000379386.4_Silent_p.P59P|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Silent_p.P59P			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	59			P -> S (in dbSNP:rs1989).			integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GAAAACCACCCCGGGACCCAC	0.483													7	174	---	---	---	---	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84373226	84373226	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:84373226G>T	ENST00000286744.5	+	3	379	c.155G>T	c.(154-156)gGg>gTg	p.G52V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G52V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	52						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACACAACAGGGGAGCAGTTC	0.468													10	425	---	---	---	---	0	0
AKAP13	11214	broad.mit.edu	37	15	86278321	86278321	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:86278321C>A	ENST00000394518.2	+	31	7476	c.7381C>A	c.(7381-7383)Ctg>Atg	p.L2461M	AKAP13_ENST00000361243.2_Missense_Mutation_p.L2465M|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.L706M	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2461	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCCCGTTTCCCTGCCCCGGAG	0.507													6	365	---	---	---	---	0	0
ABHD2	11057	broad.mit.edu	37	15	89719095	89719095	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:89719095C>A	ENST00000352732.5	+	6	1111	c.591C>A	c.(589-591)ccC>ccA	p.P197P	ABHD2_ENST00000565973.1_Silent_p.P197P|ABHD2_ENST00000355100.3_Silent_p.P197P	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	197						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGACATATCCCCTGACCCAGC	0.522													5	164	---	---	---	---	0	0
CRTC3	64784	broad.mit.edu	37	15	91169054	91169054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:91169054G>T	ENST00000420329.2	+	10	943	c.796G>T	c.(796-798)Ggg>Tgg	p.G266W	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.G266W	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	266					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ACCCTTCTTGGGGACCTTGAA	0.488			T	MAML2	salivary gland mucoepidermoid								10	609	---	---	---	---	0	0
CRTC3	64784	broad.mit.edu	37	15	91172673	91172673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:91172673C>A	ENST00000420329.2	+	11	1322	c.1175C>A	c.(1174-1176)cCt>cAt	p.P392H	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.P392H	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	392					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CCCGTCAGCCCTCTCACGCTT	0.582			T	MAML2	salivary gland mucoepidermoid								6	330	---	---	---	---	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981724	92981724	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:92981724C>A	ENST00000268164.3	+	4	669	c.432C>A	c.(430-432)ccC>ccA	p.P144P	ST8SIA2_ENST00000539113.1_Silent_p.P123P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	144					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGCTCCTCCCCAGGACTTCGC	0.537													5	248	---	---	---	---	0	0
SYNM	23336	broad.mit.edu	37	15	99672871	99672871	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:99672871C>A	ENST00000336292.6	+	5	4423	c.4303C>A	c.(4303-4305)Cct>Act	p.P1435T	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1436	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGCGGACTCCCCTGAGCTAGG	0.512													7	371	---	---	---	---	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100594132	100594132	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:100594132C>A	ENST00000268070.4	-	16	2370	c.2265G>T	c.(2263-2265)aaG>aaT	p.K755N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	755	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGGTTGGTCCCTTGGCAGAGA	0.532													8	487	---	---	---	---	0	0
MSLN	10232	broad.mit.edu	37	16	812728	812728	+	Silent	SNP	C	C	A	rs138683708		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:812728C>A	ENST00000566549.1	+	2	465	c.48C>A	c.(46-48)ccC>ccA	p.P16P	MSLN_ENST00000382862.3_Silent_p.P16P|MSLN_ENST00000545450.2_Silent_p.P16P|MSLN_ENST00000563941.1_Silent_p.P16P			Q13421	MSLN_HUMAN	mesothelin	16				TPAL -> DRP (in Ref. 2; AAC50348).	cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTGGGACCCCCGCCCTCGGCA	0.692													5	290	---	---	---	---	0	0
EME2	197342	broad.mit.edu	37	16	1825078	1825078	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:1825078C>A	ENST00000307394.7	+	4	514	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	EME2_ENST00000568449.1_Missense_Mutation_p.P172T			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	172					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CTGGATCTCCCCCGAGACCAC	0.657								Direct reversal of damage;Homologous recombination					6	290	---	---	---	---	0	0
SRRM2	23524	broad.mit.edu	37	16	2819215	2819215	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:2819215C>A	ENST00000301740.8	+	12	8500	c.7951C>A	c.(7951-7953)Cct>Act	p.P2651T	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2651	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ctccccttccCCTGCTAAGCC	0.587													6	304	---	---	---	---	0	0
SRRM2	23524	broad.mit.edu	37	16	2819272	2819272	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:2819272C>A	ENST00000301740.8	+	12	8557	c.8008C>A	c.(8008-8010)Cct>Act	p.P2670T	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2670	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAGCCACCCCCTGGCGAGCG	0.637													6	309	---	---	---	---	0	0
OR1F1	4992	broad.mit.edu	37	16	3254942	3254942	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:3254942G>T	ENST00000304646.2	+	1	696	c.696G>T	c.(694-696)aaG>aaT	p.K232N	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CATCCACAAAGGGAAGGTGGA	0.512													8	306	---	---	---	---	0	0
MGRN1	0	broad.mit.edu	37	16	4714730	4714730	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:4714730G>T	ENST00000399577.5	+	6	675	c.582G>T	c.(580-582)cgG>cgT	p.R194R	MGRN1_ENST00000262370.7_Silent_p.R194R|MGRN1_ENST00000586183.1_Silent_p.R194R|MGRN1_ENST00000415496.1_Silent_p.R194R|MGRN1_ENST00000588994.1_Silent_p.R194R	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	194					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						ACCTGGACCGGGGCGTGTTTC	0.597													5	164	---	---	---	---	0	0
MKL2	57496	broad.mit.edu	37	16	14234515	14234515	+	Missense_Mutation	SNP	C	C	A	rs139420323		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:14234515C>A	ENST00000571589.1	+	3	224	c.52C>A	c.(52-54)Cat>Aat	p.H18N	MKL2_ENST00000318282.5_Missense_Mutation_p.H18N|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000574045.1_Missense_Mutation_p.H18N	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCTTTAGCCCATCTTGCTCC	0.507													5	179	---	---	---	---	0	0
RP11-65J21.3	0	broad.mit.edu	37	16	14397848	14397848	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:14397848G>T	ENST00000570945.1	+	0	310				MIR193B_ENST00000384907.1_RNA																							GGGGTTTTGAGGGCGAGATGA	0.577													7	333	---	---	---	---	0	0
KIAA0430	9665	broad.mit.edu	37	16	15719561	15719561	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:15719561C>A	ENST00000396368.3	-	8	1827	c.1621G>T	c.(1621-1623)Ggg>Tgg	p.G541W	KIAA0430_ENST00000551742.1_Missense_Mutation_p.G540W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G363W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	540						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGCACTTTCCCACCACAATTA	0.483													7	242	---	---	---	---	0	0
SMG1	23049	broad.mit.edu	37	16	18844357	18844357	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:18844357G>T	ENST00000446231.2	-	51	9109	c.8697C>A	c.(8695-8697)ccC>ccA	p.P2899P	SMG1_ENST00000389467.3_Silent_p.P2899P			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2899			P -> A.		DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GAGTCTGCAGGGGAACGCCAT	0.468													10	501	---	---	---	---	0	0
ACSM5	54988	broad.mit.edu	37	16	20448426	20448426	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:20448426G>T	ENST00000331849.4	+	11	1508	c.1361G>T	c.(1360-1362)gGg>gTg	p.G454V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	454					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TACATCACAGGGGACCGAGCT	0.488													8	327	---	---	---	---	0	0
ACSM3	6296	broad.mit.edu	37	16	20803376	20803376	+	Missense_Mutation	SNP	G	G	T	rs140665877	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:20803376G>T	ENST00000289416.5	+	11	1854	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.G452V	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	460					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.G460V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TATATCACTGGGGACAGAGGA	0.373													7	378	---	---	---	---	0	0
DNAH3	55567	broad.mit.edu	37	16	21147786	21147786	+	Missense_Mutation	SNP	G	G	T	rs140282790		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:21147786G>T	ENST00000261383.3	-	6	744	c.745C>A	c.(745-747)Cct>Act	p.P249T	DNAH3_ENST00000415178.1_Missense_Mutation_p.P249T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	249	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCTCCTCAGGGGCAATCATG	0.478													7	351	---	---	---	---	0	0
PDZD9	255762	broad.mit.edu	37	16	21995621	21995621	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:21995621C>A	ENST00000286143.6	-	5	897	c.576G>T	c.(574-576)gaG>gaT	p.E192D	PDZD9_ENST00000424898.2_Missense_Mutation_p.E254D|PDZD9_ENST00000537222.2_Missense_Mutation_p.E194D			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	254										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GGGCTTTACCCTCTTCAACTT	0.453													14	1392	---	---	---	---	0	0
GGA2	23062	broad.mit.edu	37	16	23498080	23498080	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:23498080G>T	ENST00000309859.4	-	7	693	c.611C>A	c.(610-612)cCc>cAc	p.P204H	GGA2_ENST00000567468.1_Missense_Mutation_p.P204H	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	204	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.P204H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AAGGTCCTCGGGGTGGTTGCT	0.507													8	544	---	---	---	---	0	0
PRKCB	5579	broad.mit.edu	37	16	24104145	24104145	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:24104145C>A	ENST00000303531.7	+	6	715	c.563C>A	c.(562-564)cCc>cAc	p.P188H	PRKCB_ENST00000321728.7_Missense_Mutation_p.P188H|PRKCB_ENST00000482000.1_3'UTR	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	188	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CCTATGGACCCCAATGGCCTG	0.423													6	350	---	---	---	---	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258052	25258052	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:25258052G>T	ENST00000328086.7	-	5	2268	c.1465C>A	c.(1465-1467)Cct>Act	p.P489T		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	489					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AACAAGACAGGGGCACCATGG	0.443													7	396	---	---	---	---	0	0
CCDC101	112869	broad.mit.edu	37	16	28602973	28602973	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:28602973C>A	ENST00000317058.3	+	10	1015	c.828C>A	c.(826-828)ccC>ccA	p.P276P		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	276	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						ATTCCCCTCCCCTCAATGTGG	0.582													7	210	---	---	---	---	0	0
EIF3C	8663	broad.mit.edu	37	16	28734623	28734623	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:28734623G>T	ENST00000331666.6	+	9	1101	c.915G>T	c.(913-915)cgG>cgT	p.R305R	EIF3C_ENST00000566866.1_Silent_p.R305R|EIF3C_ENST00000564243.1_Silent_p.R295R|EIF3C_ENST00000395587.1_Silent_p.R305R|EIF3C_ENST00000566501.1_Silent_p.R305R			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	305						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						AAAGGGTCCGGGGCGGAGTGC	0.537													14	1271	---	---	---	---	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28965930	28965930	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:28965930C>A	ENST00000320805.4	+	3	580	c.505C>A	c.(505-507)Cca>Aca	p.P169T	NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	169						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						TGAGGGCTCCCCATCACCAGG	0.562													6	367	---	---	---	---	0	0
CORO1A	11151	broad.mit.edu	37	16	30197992	30197992	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30197992C>A	ENST00000219150.5	+	3	577	c.272C>A	c.(271-273)cCg>cAg	p.P91Q	CORO1A_ENST00000565497.1_Missense_Mutation_p.P91Q|CORO1A_ENST00000570045.1_Missense_Mutation_p.P91Q	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	91					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GCCTGGTGCCCGCACAATGAC	0.617													3	39	---	---	---	---	0	0
ZNF688	146542	broad.mit.edu	37	16	30581354	30581354	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30581354C>A	ENST00000223459.6	-	3	1818	c.714G>T	c.(712-714)ggG>ggT	p.G238G	ZNF688_ENST00000395219.1_Silent_p.G224G	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCCGCCGCCCCCCGGAGCAGG	0.706													4	32	---	---	---	---	0	0
ZNF629	23361	broad.mit.edu	37	16	30793264	30793264	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30793264G>T	ENST00000262525.4	-	3	2592	c.2385C>A	c.(2383-2385)ccC>ccA	p.P795P		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	795					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CGGGATTGGGGGGTTTTTCCT	0.662													9	296	---	---	---	---	0	0
ZNF668	79759	broad.mit.edu	37	16	31072440	31072440	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:31072440G>T	ENST00000538906.1	-	3	2593	c.1809C>A	c.(1807-1809)ccC>ccA	p.P603P	ZNF668_ENST00000426488.2_Silent_p.P626P|ZNF668_ENST00000535577.1_Silent_p.P603P|ZNF668_ENST00000300849.4_Silent_p.P603P|ZNF668_ENST00000394983.2_Silent_p.P603P|ZNF668_ENST00000539836.3_Silent_p.P626P	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGGGCTCCAGGGGTGTGGGGG	0.672													5	153	---	---	---	---	0	0
ITGAX	3687	broad.mit.edu	37	16	31373412	31373412	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:31373412G>T	ENST00000268296.4	+	11	1224	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V	ITGAX_ENST00000562522.1_Missense_Mutation_p.G368V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	368					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCGTTCTGGGGGCTGTGGGG	0.582													7	333	---	---	---	---	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638210	46638210	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:46638210C>A	ENST00000303383.3	-	6	1119	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	285										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AATTTTAACCCTTCCACCATG	0.363													6	323	---	---	---	---	0	0
SHCBP1	79801	broad.mit.edu	37	16	46649932	46649932	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:46649932G>T	ENST00000303383.3	-	4	788	c.522C>A	c.(520-522)ccC>ccA	p.P174P		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	174										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GCTCCTGCAGGGGCAACCGAT	0.483													6	240	---	---	---	---	0	0
PAPD5	64282	broad.mit.edu	37	16	50250028	50250028	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:50250028C>A	ENST00000357464.3	+	5	570	c.570C>A	c.(568-570)ccC>ccA	p.P190P	PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Silent_p.P202P|PAPD5_ENST00000436909.3_Silent_p.P269P			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	190					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAACCTACCCCTCTGGACTC	0.438													5	186	---	---	---	---	0	0
SALL1	6299	broad.mit.edu	37	16	51174722	51174722	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:51174722G>T	ENST00000440970.1	-	2	1551	c.1120C>A	c.(1120-1122)Cat>Aat	p.H374N	SALL1_ENST00000251020.4_Missense_Mutation_p.H471N|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	471	Poly-Ser.				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTCCGGTATGGGAACGCAAG	0.512													4	116	---	---	---	---	0	0
PLCG2	5336	broad.mit.edu	37	16	81942029	81942029	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:81942029C>A	ENST00000359376.3	+	17	1780	c.1566C>A	c.(1564-1566)ccC>ccA	p.P522P		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	522					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGGATATACCCCCTACAGAAC	0.542													4	87	---	---	---	---	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87451234	87451234	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:87451234C>A	ENST00000268616.4	-	8	1021	c.804G>T	c.(802-804)gcG>gcT	p.A268A		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	268					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGCTGAGCCCGCGCTGCCCG	0.682													4	174	---	---	---	---	0	0
FAM57A	79850	broad.mit.edu	37	17	641201	641201	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:641201C>A	ENST00000308278.8	+	3	558	c.322C>A	c.(322-324)Ctc>Atc	p.L108I	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.L108I	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	108	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGCGCCCTCCCTCACTCTTCG	0.507													6	259	---	---	---	---	0	0
FAM57A	79850	broad.mit.edu	37	17	644626	644626	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:644626C>A	ENST00000308278.8	+	5	826	c.590C>A	c.(589-591)cCc>cAc	p.P197H	FAM57A_ENST00000301324.8_Missense_Mutation_p.P165H	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	197	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CTTCTCTTCCCCTTCATGTAC	0.542													5	139	---	---	---	---	0	0
OR1D2	4991	broad.mit.edu	37	17	2996055	2996055	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:2996055G>T	ENST00000331459.1	-	1	235	c.236C>A	c.(235-237)cCc>cAc	p.P79H		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	79					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGCATCTTGGGGATTGTGTT	0.547													6	269	---	---	---	---	0	0
OR1E2	8388	broad.mit.edu	37	17	3336249	3336249	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:3336249G>T	ENST00000248384.1	-	1	886	c.887C>A	c.(886-888)cCc>cAc	p.P296H		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	296					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GTAGATGAAGGGGGTCAGCAT	0.453													6	165	---	---	---	---	0	0
ZZEF1	23140	broad.mit.edu	37	17	3937384	3937384	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:3937384C>A	ENST00000381638.2	-	40	6633	c.6509G>T	c.(6508-6510)gGg>gTg	p.G2170V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2170							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGAACTGTCCCCTGCAGCAAA	0.542													7	372	---	---	---	---	0	0
USP6	9098	broad.mit.edu	37	17	5040480	5040480	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:5040480G>T	ENST00000574788.1	+	19	3054	c.824G>T	c.(823-825)gGg>gTg	p.G275V	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Splice_Site_p.G275V|USP6_ENST00000332776.4_Splice_Site_p.G275V			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	275	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGATTGACGGGGTAAGGAGG	0.642			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								5	107	---	---	---	---	0	0
NLRP1	22861	broad.mit.edu	37	17	5437289	5437289	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:5437289G>T	ENST00000345221.3	-	9	3534	c.2980C>A	c.(2980-2982)Cct>Act	p.P994T	NLRP1_ENST00000269280.4_Missense_Mutation_p.P994T|NLRP1_ENST00000354411.3_Missense_Mutation_p.P964T|NLRP1_ENST00000572272.1_Missense_Mutation_p.P994T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.P964T|NLRP1_ENST00000262467.5_Missense_Mutation_p.P994T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	994					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCCTCAGTAGGGGTCATCACA	0.498													8	436	---	---	---	---	0	0
AIPL1	23746	broad.mit.edu	37	17	6331819	6331819	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:6331819C>A	ENST00000381129.3	-	3	364	c.284G>T	c.(283-285)gGg>gTg	p.G95V	AIPL1_ENST00000576776.1_Missense_Mutation_p.G95V|AIPL1_ENST00000576307.1_Missense_Mutation_p.G35V|AIPL1_ENST00000570466.1_Missense_Mutation_p.G73V|AIPL1_ENST00000575265.1_Missense_Mutation_p.G95V|AIPL1_ENST00000571740.1_Missense_Mutation_p.G95V|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000574506.1_Missense_Mutation_p.G83V	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	95	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GGGGTAGACCCCCGTGTGCTG	0.637													6	91	---	---	---	---	0	0
DLG4	1742	broad.mit.edu	37	17	7106238	7106238	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7106238G>T	ENST00000399510.2	-	10	1752	c.900C>A	c.(898-900)ccC>ccA	p.P300P	DLG4_ENST00000399506.2_Silent_p.P257P|DLG4_ENST00000485100.1_Silent_p.P254P|DLG4_ENST00000302955.6_Silent_p.P254P	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	257					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TGATGTCTGGGGGAGCATAGC	0.527													5	87	---	---	---	---	0	0
PHF23	79142	broad.mit.edu	37	17	7139749	7139749	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7139749G>T	ENST00000320316.3	-	4	723	c.497C>A	c.(496-498)cCc>cAc	p.P166H	PHF23_ENST00000571362.1_Missense_Mutation_p.P99H|PHF23_ENST00000576955.1_Missense_Mutation_p.P36H|PHF23_ENST00000454255.2_Missense_Mutation_p.P162H	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	166							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						AAGGGGCACGGGGGTAAGAGC	0.602													6	120	---	---	---	---	0	0
YBX2	51087	broad.mit.edu	37	17	7192148	7192148	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7192148G>T	ENST00000007699.5	-	8	1117	c.1054C>A	c.(1054-1056)Cct>Act	p.P352T		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	352	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CTGTTGACAGGGGCTGAGGTC	0.532													4	78	---	---	---	---	0	0
CNTROB	116840	broad.mit.edu	37	17	7852466	7852466	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7852466C>A	ENST00000380262.3	+	18	3568	c.2643C>A	c.(2641-2643)ccC>ccA	p.P881P	CNTROB_ENST00000565740.1_Silent_p.P860P|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Silent_p.P859P	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	859	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GTGAGATCCCCCGGAAAGAGG	0.572													6	87	---	---	---	---	0	0
DNAH9	1770	broad.mit.edu	37	17	11757555	11757555	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:11757555C>A	ENST00000262442.4	+	50	9811	c.9743C>A	c.(9742-9744)cCc>cAc	p.P3248H	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3248H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCAAGACCCCGAGTTCAAT	0.483													6	314	---	---	---	---	0	0
TOM1L2	146691	broad.mit.edu	37	17	17797015	17797015	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:17797015G>T	ENST00000379504.3	-	4	409	c.326C>A	c.(325-327)cCt>cAt	p.P109H	TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000318094.10_Missense_Mutation_p.P109H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.P109H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.P109H|TOM1L2_ENST00000581396.1_Intron|TOM1L2_ENST00000540946.1_Missense_Mutation_p.P109H	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	109	VHS.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					AATGGTGGGAGGGTTGTTCTT	0.468													6	199	---	---	---	---	0	0
SHMT1	6470	broad.mit.edu	37	17	18238892	18238892	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:18238892G>T	ENST00000316694.3	-	8	1046	c.912C>A	c.(910-912)ccC>ccA	p.P304P	SHMT1_ENST00000539052.1_Silent_p.P166P|SHMT1_ENST00000354098.3_Intron|SHMT1_ENST00000352886.6_Intron	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	304					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGTGGTTGTGGGGACCTCCCT	0.517													7	392	---	---	---	---	0	0
EPN2	22905	broad.mit.edu	37	17	19235220	19235220	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:19235220C>A	ENST00000314728.5	+	10	1950	c.1466C>A	c.(1465-1467)cCc>cAc	p.P489H	EPN2_ENST00000571254.1_Missense_Mutation_p.P425H|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.P432H|EPN2_ENST00000395618.3_Missense_Mutation_p.P204H|EPN2_ENST00000395620.2_Missense_Mutation_p.P432H|EPN2_ENST00000575595.1_Missense_Mutation_p.P197H	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	489	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AGCCCTGACCCCTTTGAGTCT	0.582													7	240	---	---	---	---	0	0
SPECC1	92521	broad.mit.edu	37	17	20107684	20107684	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:20107684C>A	ENST00000395530.2	+	2	287	c.79C>A	c.(79-81)Cca>Aca	p.P27T	SPECC1_ENST00000395527.4_Missense_Mutation_p.P108T|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.P27T|SPECC1_ENST00000395529.3_Missense_Mutation_p.P108T|SPECC1_ENST00000395525.3_Missense_Mutation_p.P27T|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Missense_Mutation_p.P108T	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	108						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CATTCCAGCCCCACGGGAATT	0.443													8	423	---	---	---	---	0	0
PROCA1	147011	broad.mit.edu	37	17	27030734	27030734	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27030734C>A	ENST00000301039.2	-	4	1046	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W	PROCA1_ENST00000439862.3_Missense_Mutation_p.G287W|PROCA1_ENST00000581289.1_3'UTR	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	313					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCTCCCTGCCCCCGGCCATTG	0.572													7	212	---	---	---	---	0	0
RAB34	83871	broad.mit.edu	37	17	27043922	27043922	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27043922C>A	ENST00000395245.3	-	2	771	c.145G>T	c.(145-147)Gga>Tga	p.G49*	RAB34_ENST00000395242.2_Splice_Site_p.G49C|RAB34_ENST00000453384.3_Splice_Site_p.G106C|RAB34_ENST00000436730.3_Splice_Site_p.G49*|RAB34_ENST00000395243.3_Splice_Site_p.G49*|RAB34_ENST00000415040.2_Splice_Site_p.G49W|RAB34_ENST00000447716.1_Splice_Site_p.G106*|RAB34_ENST00000301043.6_Splice_Site_p.G49*|RAB34_ENST00000450529.1_Splice_Site_p.G49*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	49					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CTAACTCACCCCACGGTGCCT	0.602													5	123	---	---	---	---	0	0
SSH2	85464	broad.mit.edu	37	17	27958281	27958281	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27958281G>T	ENST00000269033.3	-	15	4001	c.3850C>A	c.(3850-3852)Cct>Act	p.P1284T	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.P1311T	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1284					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGAGATGAGGGGATTCACAG	0.542													7	166	---	---	---	---	0	0
SSH2	85464	broad.mit.edu	37	17	27959328	27959328	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27959328C>A	ENST00000269033.3	-	15	2954	c.2803G>T	c.(2803-2805)Ggg>Tgg	p.G935W	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.G962W	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	935					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGTATTTCCCTTTGCCTTTG	0.512													6	291	---	---	---	---	0	0
C17orf66	256957	broad.mit.edu	37	17	34191783	34191783	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:34191783G>T	ENST00000311880.2	-	4	580	c.432C>A	c.(430-432)ccC>ccA	p.P144P	C17orf66_ENST00000592980.1_Intron|C17orf66_ENST00000587585.1_5'UTR	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	144							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GCCACTTCAGGGGGTCCTGGG	0.542													5	141	---	---	---	---	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36375117	36375117	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:36375117G>T	ENST00000312412.4	-	3	400	c.401C>A	c.(400-402)cCt>cAt	p.P134H	RP11-1407O15.2_ENST00000544906.1_5'UTR																kidney(1)|lung(3)	4						CAGAGTACTAGGGAAAGACAA	0.343													4	110	---	---	---	---	0	0
GPR179	440435	broad.mit.edu	37	17	36485335	36485335	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:36485335G>T	ENST00000342292.4	-	11	4137	c.4117C>A	c.(4117-4119)Cct>Act	p.P1373T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1373						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTGATGTCAGGGGTATGAGCT	0.597													6	182	---	---	---	---	0	0
MED1	5469	broad.mit.edu	37	17	37566496	37566496	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:37566496G>T	ENST00000300651.6	-	17	2201	c.1978C>A	c.(1978-1980)Ctt>Att	p.L660I	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	660	Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTTCCATAAAGGGTTGAGAAA	0.512										HNSCC(31;0.082)			6	250	---	---	---	---	0	0
MED1	5469	broad.mit.edu	37	17	37566851	37566851	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:37566851G>T	ENST00000300651.6	-	17	1846	c.1623C>A	c.(1621-1623)ccC>ccA	p.P541P	MED1_ENST00000394287.3_Silent_p.P541P	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	541	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGCTAGCCGGGGGCAGGTTCT	0.547										HNSCC(31;0.082)			5	174	---	---	---	---	0	0
CDK12	51755	broad.mit.edu	37	17	37686895	37686895	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:37686895C>A	ENST00000447079.4	+	14	3832	c.3799C>A	c.(3799-3801)Cct>Act	p.P1267T	CDK12_ENST00000430627.2_Missense_Mutation_p.P1258T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1267	Poly-Pro.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GAAGAGGCCCCCTGAGCCCCC	0.557			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			9	387	---	---	---	---	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38348923	38348923	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38348923C>A	ENST00000436615.3	+	12	1594	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P	RAPGEFL1_ENST00000544503.1_Silent_p.P417P|RAPGEFL1_ENST00000264644.6_Silent_p.P368P|RAPGEFL1_ENST00000456989.2_Silent_p.P423P	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	574					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CTGTGATTCCCTTCGTGCCTC	0.532													7	373	---	---	---	---	0	0
WIPF2	147179	broad.mit.edu	37	17	38420795	38420795	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38420795C>A	ENST00000323571.4	+	5	607	c.367C>A	c.(367-369)Cca>Aca	p.P123T	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P123T|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P123T	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	123						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AGCTGCTGCCCCAAGGCCTCC	0.567										HNSCC(43;0.11)			6	158	---	---	---	---	0	0
TNS4	84951	broad.mit.edu	37	17	38643289	38643289	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38643289C>A	ENST00000254051.6	-	4	1445	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	429					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACGACGTACCCTCTGGGCATG	0.507													8	723	---	---	---	---	0	0
KRT24	192666	broad.mit.edu	37	17	38859679	38859679	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38859679C>A	ENST00000264651.2	-	1	323	c.267G>T	c.(265-267)ggG>ggT	p.G89G		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	89	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGCTAGAACCCCCACCAAATC	0.567													5	119	---	---	---	---	0	0
KCNH4	23415	broad.mit.edu	37	17	40328132	40328132	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40328132G>T	ENST00000264661.3	-	5	1101	c.769C>A	c.(769-771)Ccc>Acc	p.P257T	KCNH4_ENST00000607371.1_Missense_Mutation_p.P257T	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	257					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAAGTGATGGGGGTGTCATCG	0.592													7	197	---	---	---	---	0	0
STAT3	6774	broad.mit.edu	37	17	40474448	40474448	+	Silent	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40474448A>G	ENST00000264657.5	-	21	2265	c.1953T>C	c.(1951-1953)gcT>gcC	p.A651A	STAT3_ENST00000585517.1_Silent_p.A651A|STAT3_ENST00000588969.1_Silent_p.A651A|STAT3_ENST00000404395.3_Silent_p.A651A|STAT3_ENST00000389272.3_Silent_p.A553A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	651	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.A651A(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGATGATTTCAGCAAATGACA	0.473									Hyperimmunoglobulin E Recurrent Infection Syndrome				98	239	---	---	---	---	0	0
NAGLU	4669	broad.mit.edu	37	17	40690429	40690429	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40690429G>T	ENST00000225927.2	+	3	705	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	202						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTGGCCTGGGGGCGAATGGG	0.587													6	262	---	---	---	---	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843875	40843875	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40843875C>A	ENST00000264638.4	+	16	2613	c.2396C>A	c.(2395-2397)cCc>cAc	p.P799H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	799					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTACGCTTCCCCCCAATCCGT	0.562													9	615	---	---	---	---	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476068	42476068	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:42476068G>T	ENST00000434000.1	-	9	3425	c.3143C>A	c.(3142-3144)cCc>cAc	p.P1048H	GPATCH8_ENST00000591680.1_Missense_Mutation_p.P1126H			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1126						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACCTTGTGGGGGGTCCTTGAG	0.547													5	175	---	---	---	---	0	0
KANSL1	284058	broad.mit.edu	37	17	44248976	44248976	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:44248976C>A	ENST00000262419.6	-	2	1004	c.534G>T	c.(532-534)ggG>ggT	p.G178G	KANSL1_ENST00000574590.1_Silent_p.G178G|KANSL1_ENST00000572904.1_Silent_p.G178G|KANSL1_ENST00000432791.1_Silent_p.G178G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.G178G	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	178						MLL1 complex	protein binding										CCCGTTTTCCCCCATTGAGGG	0.478													7	337	---	---	---	---	0	0
SCRN2	90507	broad.mit.edu	37	17	45915953	45915953	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:45915953G>T	ENST00000407215.3	-	6	963	c.882C>A	c.(880-882)ccC>ccA	p.P294P	SCRN2_ENST00000290216.9_Silent_p.P294P|SCRN2_ENST00000584123.1_Silent_p.P302P			Q96FV2	SCRN2_HUMAN	secernin 2	294					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TGGGATCCTGGGGCAGGACAG	0.607													5	144	---	---	---	---	0	0
SNX11	29916	broad.mit.edu	37	17	46198732	46198732	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:46198732C>A	ENST00000393405.2	+	8	1029	c.675C>A	c.(673-675)ccC>ccA	p.P225P	SNX11_ENST00000580219.1_Silent_p.P217P|SNX11_ENST00000582104.1_Silent_p.P217P|SNX11_ENST00000439357.2_Silent_p.P164P|SNX11_ENST00000359238.2_Silent_p.P225P|SNX11_ENST00000452859.2_Silent_p.P81P	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	225					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CTCTCCCACCCCTCTCCTCAC	0.532													7	297	---	---	---	---	0	0
HOXB1	3211	broad.mit.edu	37	17	46608169	46608169	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:46608169G>T	ENST00000239174.6	-	1	190	c.98C>A	c.(97-99)cCa>cAa	p.P33Q	HOXB1_ENST00000577092.1_Missense_Mutation_p.P33Q	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	33						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGCCGAGCTTGGGGGAAAGGA	0.622													5	168	---	---	---	---	0	0
COL1A1	1277	broad.mit.edu	37	17	48264184	48264184	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:48264184C>T	ENST00000225964.5	-	48	3749	c.3631G>A	c.(3631-3633)Gat>Aat	p.D1211N		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1211	Nonhelical region (C-terminal).				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.D1211N(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGGCCACCATCGTGAGCCTTC	0.637			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						45	122	---	---	---	---	0	0
SPAG9	9043	broad.mit.edu	37	17	49057226	49057226	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:49057226C>A	ENST00000262013.7	-	26	3498	c.3290G>T	c.(3289-3291)tGg>tTg	p.W1097L	SPAG9_ENST00000505279.1_Missense_Mutation_p.W1087L|SPAG9_ENST00000357122.4_Missense_Mutation_p.W1083L|SPAG9_ENST00000510283.1_Missense_Mutation_p.W940L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1097					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATCCCCCACCCACGCAAGCTG	0.473													4	155	---	---	---	---	0	0
C17orf67	339210	broad.mit.edu	37	17	54892322	54892322	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:54892322G>T	ENST00000397861.2	-	6	1343	c.64C>A	c.(64-66)Ccg>Acg	p.P22T	C17orf67_ENST00000575658.1_Missense_Mutation_p.P46T|C17orf67_ENST00000397862.2_Missense_Mutation_p.P46T			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	46						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					GTCAAAATCGGGGAGGTCTCT	0.522													8	545	---	---	---	---	0	0
CACNG5	27091	broad.mit.edu	37	17	64873579	64873579	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:64873579C>A	ENST00000533854.1	+	2	366	c.129C>A	c.(127-129)ccC>ccA	p.P43P	CACNG5_ENST00000169565.3_Silent_p.P43P|CACNG5_ENST00000307139.3_Silent_p.P43P			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	43					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGATTGTGCCCCAGAACCAGA	0.622													4	95	---	---	---	---	0	0
COG1	9382	broad.mit.edu	37	17	71197345	71197345	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:71197345C>A	ENST00000299886.4	+	7	1459	c.1379C>A	c.(1378-1380)cCt>cAt	p.P460H		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	460					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AGCAACTCCCCTTCAAATAAG	0.507													6	296	---	---	---	---	0	0
DNAI2	64446	broad.mit.edu	37	17	72285780	72285780	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:72285780C>A	ENST00000579490.1	+	4	821	c.686C>A	c.(685-687)cCc>cAc	p.P229H	DNAI2_ENST00000311014.6_Missense_Mutation_p.P172H|DNAI2_ENST00000446837.2_Missense_Mutation_p.P172H|DNAI2_ENST00000307504.5_Missense_Mutation_p.P29H|DNAI2_ENST00000582036.1_Missense_Mutation_p.P172H			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	172					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCCTGGCACCCCGATGGCAAC	0.582									Kartagener syndrome				4	69	---	---	---	---	0	0
NUP85	79902	broad.mit.edu	37	17	73204669	73204669	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:73204669G>T	ENST00000245544.4	+	2	152	c.81G>T	c.(79-81)tgG>tgT	p.W27C	NUP85_ENST00000541827.1_Intron|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000579298.1_Missense_Mutation_p.W27C|NUP85_ENST00000447371.2_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	27					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ATTTTGACTGGGGTCCAGGGG	0.363													7	583	---	---	---	---	0	0
CANT1	124583	broad.mit.edu	37	17	76993250	76993250	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:76993250C>A	ENST00000302345.2	-	2	949	c.455G>T	c.(454-456)gGg>gTg	p.G152V	CANT1_ENST00000392446.5_Missense_Mutation_p.G152V|CANT1_ENST00000591773.1_Missense_Mutation_p.G152V	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	152					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTCCAGGACCCCATGGTCTTT	0.567			T	ETV4	prostate								7	403	---	---	---	---	0	0
GAA	2548	broad.mit.edu	37	17	78079689	78079689	+	Missense_Mutation	SNP	G	G	T	rs145866792	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:78079689G>T	ENST00000302262.3	+	3	907	c.688G>T	c.(688-690)Gtg>Ttg	p.V230L	GAA_ENST00000390015.3_Missense_Mutation_p.V230L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	230					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	p.V230L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGACGGCCGCGTGCTGTGAGT	0.662													22	36	---	---	---	---	0	0
RPTOR	57521	broad.mit.edu	37	17	78796034	78796034	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:78796034C>A	ENST00000306801.3	+	8	1286	c.924C>A	c.(922-924)ccC>ccA	p.P308P	RPTOR_ENST00000537330.1_Silent_p.P123P|RPTOR_ENST00000570891.1_Silent_p.P308P|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.P308P	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	308					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGAGGACGCCCCTGGGTGAAC	0.622													11	417	---	---	---	---	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612297	79612297	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:79612297G>T	ENST00000328585.4	+	0	406				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGCTGTCAAGGGGTCTCTGGG	0.667													5	116	---	---	---	---	0	0
LPIN2	9663	broad.mit.edu	37	18	2925282	2925282	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:2925282G>T	ENST00000261596.4	-	14	2116	c.1878C>A	c.(1876-1878)ccC>ccA	p.P626P		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	626					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CGTGGCTCAGGGGCTCTGTGG	0.537													5	171	---	---	---	---	0	0
MYOM1	8736	broad.mit.edu	37	18	3129449	3129449	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:3129449C>A	ENST00000400569.3	-	18	2908	c.2575G>T	c.(2575-2577)Ggg>Tgg	p.G859W	MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000356443.4_Missense_Mutation_p.G859W			P52179	MYOM1_HUMAN	myomesin 1	859						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCACGCGCCCCCTGGAGGCG	0.557											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	185	---	---	---	---	0	0
SOGA2	23255	broad.mit.edu	37	18	8819031	8819031	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:8819031C>A	ENST00000359865.3	+	13	3072	c.2930C>A	c.(2929-2931)cCc>cAc	p.P977H	SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Missense_Mutation_p.P1296H|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000400050.3_Missense_Mutation_p.P936H|SOGA2_ENST00000517570.1_Missense_Mutation_p.P936H	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1287																	AACGTTCGCCCCTTTCCCCAC	0.527													6	152	---	---	---	---	0	0
CDH2	1000	broad.mit.edu	37	18	25565614	25565614	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:25565614G>T	ENST00000269141.3	-	12	2276	c.1853C>A	c.(1852-1854)cCc>cAc	p.P618H	CDH2_ENST00000399380.3_Missense_Mutation_p.P587H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	618	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATTGAATTGGGGTCTGGAGT	0.388													6	208	---	---	---	---	0	0
DTNA	1837	broad.mit.edu	37	18	32438306	32438306	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:32438306C>A	ENST00000283365.9	+	15	1689	c.1338C>A	c.(1336-1338)ccC>ccA	p.P446P	DTNA_ENST00000597599.1_Silent_p.P443P|DTNA_ENST00000598334.1_Silent_p.P443P|DTNA_ENST00000599844.1_Silent_p.P125P|DTNA_ENST00000597674.1_Silent_p.P125P|DTNA_ENST00000598142.1_Silent_p.P446P|DTNA_ENST00000595022.1_Silent_p.P443P|DTNA_ENST00000399121.5_Silent_p.P443P|DTNA_ENST00000269192.7_Silent_p.P212P|DTNA_ENST00000399097.3_Silent_p.P151P|DTNA_ENST00000348997.5_Silent_p.P500P|DTNA_ENST00000444659.1_Silent_p.P503P|DTNA_ENST00000399113.3_Silent_p.P503P|DTNA_ENST00000596745.1_Silent_p.P253P|DTNA_ENST00000269191.6_Silent_p.P503P|DTNA_ENST00000601125.1_Silent_p.P125P|DTNA_ENST00000269190.7_Silent_p.P504P|DTNA_ENST00000556414.3_Silent_p.P155P|DTNA_ENST00000591182.1_Silent_p.P151P|DTNA_ENST00000598774.1_Silent_p.P446P	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	503	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CTTCTCAGCCCACGCCAGAGA	0.517													4	75	---	---	---	---	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566869	45566869	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:45566869G>T	ENST00000588982.1	-	3	1111	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P204T|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P204T			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	204						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AAGTCCCTGGGGGTGTCTGAA	0.567													5	169	---	---	---	---	0	0
CTIF	9811	broad.mit.edu	37	18	46284729	46284729	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:46284729C>A	ENST00000256413.3	+	8	1319	c.1024C>A	c.(1024-1026)Ctg>Atg	p.L342M	CTIF_ENST00000382998.4_Missense_Mutation_p.L342M	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	342					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CAAAATTACCCTGCTCCAGTC	0.537													8	495	---	---	---	---	0	0
MBD2	8932	broad.mit.edu	37	18	51690931	51690931	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:51690931G>T	ENST00000256429.3	-	5	1299	c.1071C>A	c.(1069-1071)ccC>ccA	p.P357P		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	357					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CTTTGCAGAGGGGTTGAGATG	0.438													7	165	---	---	---	---	0	0
MC4R	4160	broad.mit.edu	37	18	58038857	58038857	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:58038857C>A	ENST00000299766.3	-	1	1144	c.726G>T	c.(724-726)aaG>aaT	p.K242N		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	242					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TAATCGCTCCCTTCATATTGG	0.502													6	106	---	---	---	---	0	0
SERPINB12	89777	broad.mit.edu	37	18	61223488	61223488	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:61223488C>A	ENST00000382768.1	+	1	96	c.96C>A	c.(94-96)ccC>ccA	p.P32P	SERPINB12_ENST00000269491.1_Silent_p.P32P			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	32					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTTCTCTCCCCTGAGCCTCT	0.438													8	470	---	---	---	---	0	0
ADNP2	22850	broad.mit.edu	37	18	77894468	77894468	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:77894468C>A	ENST00000262198.4	+	4	1627	c.1172C>A	c.(1171-1173)cCc>cAc	p.P391H		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	391	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGTGTCCTCCCCATAAATCAG	0.542													6	206	---	---	---	---	0	0
CDC34	997	broad.mit.edu	37	19	537038	537038	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:537038C>A	ENST00000215574.4	+	4	606	c.388C>A	c.(388-390)Ctc>Atc	p.L130I		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	130					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGATCTCCCTCCTGAACGA	0.627													4	91	---	---	---	---	0	0
TICAM1	148022	broad.mit.edu	37	19	4816548	4816548	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:4816548G>T	ENST00000248244.5	-	2	2071	c.1842C>A	c.(1840-1842)ccC>ccA	p.P614P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	614	Pro-rich.|Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGCTCCCAGGGGCACCTGGC	0.701													4	34	---	---	---	---	0	0
PTPRS	5802	broad.mit.edu	37	19	5218485	5218485	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:5218485G>T	ENST00000372412.4	-	25	4230	c.3997C>A	c.(3997-3999)Cct>Act	p.P1333T	PTPRS_ENST00000348075.2_Missense_Mutation_p.P1310T|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1332T|PTPRS_ENST00000353284.2_Missense_Mutation_p.P901T|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1332T|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1328T|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.P901T|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1310T			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1332					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGGTGGTGAGGGGCGAGGTCG	0.537													8	493	---	---	---	---	0	0
ZNF358	140467	broad.mit.edu	37	19	7584157	7584157	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:7584157C>A	ENST00000597229.1	+	2	199	c.29C>A	c.(28-30)cCa>cAa	p.P10Q	ZNF358_ENST00000394341.2_Missense_Mutation_p.P10Q|CTD-2207O23.12_ENST00000599312.1_Missense_Mutation_p.Q43K	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	10					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GTCAGGAACCCAGGCCACAAA	0.582													5	168	---	---	---	---	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987016	7987016	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:7987016C>A	ENST00000597584.1	+	0	391				SNAPC2_ENST00000221573.6_Missense_Mutation_p.P157T|SNAPC2_ENST00000595035.1_3'UTR			Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa						snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTGAGCGCCCCTGGAGGACA	0.662													6	190	---	---	---	---	0	0
FBN3	84467	broad.mit.edu	37	19	8152723	8152723	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:8152723C>A	ENST00000600128.1	-	53	7019	c.6605G>T	c.(6604-6606)gGg>gTg	p.G2202V	FBN3_ENST00000270509.2_Missense_Mutation_p.G2202V|FBN3_ENST00000601739.1_Missense_Mutation_p.G2202V			Q75N90	FBN3_HUMAN	fibrillin 3	2202	EGF-like 35; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						aCACATGGCCCCATCCTCCCG	0.562													5	168	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	8959691	8959691	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:8959691G>A	ENST00000397910.4	-	84	43644	c.43441C>T	c.(43441-43443)Cgg>Tgg	p.R14481W	MUC16_ENST00000380951.5_Missense_Mutation_p.R1122W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22126	SEA 16.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R14481W(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTTCTTCCGCCGGCGGGTG	0.582													8	17	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9065764	9065764	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:9065764G>T	ENST00000397910.4	-	3	21885	c.21682C>A	c.(21682-21684)Cct>Act	p.P7228T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7230	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAAGTGAGGGGTTGATATG	0.483													7	369	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9071802	9071802	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:9071802G>T	ENST00000397910.4	-	3	15847	c.15644C>A	c.(15643-15645)cCc>cAc	p.P5215H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5217	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTACCAGTGGGGACTTTGGA	0.483													6	318	---	---	---	---	0	0
DNMT1	1786	broad.mit.edu	37	19	10260302	10260302	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10260302C>A	ENST00000340748.4	-	25	2600	c.2365G>T	c.(2365-2367)Ggg>Tgg	p.G789W	DNMT1_ENST00000540357.1_Missense_Mutation_p.G789W|DNMT1_ENST00000359526.4_Missense_Mutation_p.G805W			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	789	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AACATCTGCCCGTTGCTGCTG	0.582													6	306	---	---	---	---	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10418870	10418870	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10418870G>T	ENST00000403903.3	-	1	1686	c.488C>A	c.(487-489)cCc>cAc	p.P163H	ZGLP1_ENST00000403352.1_Missense_Mutation_p.P79H|FDX1L_ENST00000541276.1_3'UTR|CTD-2369P2.10_ENST00000452032.2_3'UTR	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	163					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						CCTGTACGTGGGGATGATCTG	0.632													5	168	---	---	---	---	0	0
ILF3	3609	broad.mit.edu	37	19	10799884	10799884	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10799884C>A	ENST00000449870.1	+	20	2910	c.2593C>A	c.(2593-2595)Ccg>Acg	p.P865T	ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000590261.1_Missense_Mutation_p.P861T|ILF3_ENST00000588657.1_Missense_Mutation_p.P865T|ILF3_ENST00000318511.3_Missense_Mutation_p.P861T	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	861	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CTACAACTCCCCGGGGTCCGG	0.612													7	272	---	---	---	---	0	0
DNM2	1785	broad.mit.edu	37	19	10935779	10935779	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10935779C>A	ENST00000314646.5	+	18	2104	c.1940C>A	c.(1939-1941)cCc>cAc	p.P647H	DNM2_ENST00000585892.1_Missense_Mutation_p.P647H|DNM2_ENST00000359692.6_Missense_Mutation_p.P643H|DNM2_ENST00000408974.4_Missense_Mutation_p.P643H|DNM2_ENST00000389253.4_Missense_Mutation_p.P647H|DNM2_ENST00000355667.6_Missense_Mutation_p.P647H			P50570	DYN2_HUMAN	dynamin 2	647					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCCATGGACCCCCAACTGGAG	0.602			"""F, N, Splice, Mis, O"""		ETP ALL								5	108	---	---	---	---	0	0
ZNF763	284390	broad.mit.edu	37	19	12088995	12088995	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:12088995C>A	ENST00000343949.5	+	4	420	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	ZNF763_ENST00000545530.1_5'UTR|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000590798.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000358987.3_Missense_Mutation_p.Q86K|ZNF763_ENST00000591944.1_3'UTR	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AACTTTTACCCAGGTTCCAGA	0.398													6	277	---	---	---	---	0	0
OR7A5	26659	broad.mit.edu	37	19	14938133	14938133	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:14938133C>A	ENST00000322301.3	-	2	1008	c.921G>T	c.(919-921)tgG>tgT	p.W307C	OR7A5_ENST00000594432.1_Missense_Mutation_p.W307C|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCATTGTTCCCCACAACAAAT	0.433													6	230	---	---	---	---	0	0
SIN3B	23309	broad.mit.edu	37	19	16973789	16973789	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:16973789G>T	ENST00000379803.1	+	10	1375	c.1361G>T	c.(1360-1362)gGg>gTg	p.G454V	SIN3B_ENST00000248054.5_Intron	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	454	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TATAGTGcaggggtcagcaaa	0.493													8	290	---	---	---	---	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394162	17394162	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:17394162C>A	ENST00000394458.3	+	5	865	c.589C>A	c.(589-591)Ctt>Att	p.L197I	ANKLE1_ENST00000598347.1_Missense_Mutation_p.L197I|ANKLE1_ENST00000433424.2_Missense_Mutation_p.L251I|ANKLE1_ENST00000594072.1_Missense_Mutation_p.L186I|ANKLE1_ENST00000404085.1_Missense_Mutation_p.L219I	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	197						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CCCTGTTCCCCTTGAAACTGT	0.597													5	214	---	---	---	---	0	0
FAM129C	199786	broad.mit.edu	37	19	17648257	17648257	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:17648257C>A	ENST00000335393.4	+	6	731	c.593C>A	c.(592-594)cCc>cAc	p.P198H	FAM129C_ENST00000599124.1_Missense_Mutation_p.P167H|FAM129C_ENST00000332386.5_Missense_Mutation_p.P198H|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599164.1_Missense_Mutation_p.P167H|FAM129C_ENST00000352727.3_Missense_Mutation_p.P198H|FAM129C_ENST00000600871.1_Missense_Mutation_p.P144H|FAM129C_ENST00000300971.2_Missense_Mutation_p.P198H|FAM129C_ENST00000601861.1_Missense_Mutation_p.P167H|FAM129C_ENST00000595684.1_Missense_Mutation_p.P198H	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	198										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTGCAGCACCCCTTCCGCCGG	0.617													5	159	---	---	---	---	0	0
JAK3	3718	broad.mit.edu	37	19	17943457	17943457	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:17943457G>T	ENST00000458235.1	-	19	2650	c.2551C>A	c.(2551-2553)Ctg>Atg	p.L851M	JAK3_ENST00000534444.1_Missense_Mutation_p.L851M|JAK3_ENST00000527670.1_Missense_Mutation_p.L851M	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	851	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						ACGGCCACCAGGGCACCTGTA	0.587		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	140	---	---	---	---	0	0
SLC25A42	284439	broad.mit.edu	37	19	19218792	19218792	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:19218792G>T	ENST00000318596.7	+	7	738	c.587G>T	c.(586-588)gGg>gTg	p.G196V	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	196					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			ACCGTGCTGGGGGTCATTCCC	0.547													5	155	---	---	---	---	0	0
NCAN	1463	broad.mit.edu	37	19	19337519	19337519	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:19337519C>A	ENST00000252575.6	+	7	1396	c.1297C>A	c.(1297-1299)Cct>Act	p.P433T		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CAGCCCTACCCCTGGGGACCC	0.622													4	49	---	---	---	---	0	0
URI1	8725	broad.mit.edu	37	19	30476158	30476158	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:30476158C>A	ENST00000542441.2	+	3	478	c.181C>A	c.(181-183)Ctt>Att	p.L61I	URI1_ENST00000360605.4_Missense_Mutation_p.L43I|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000312051.6_Missense_Mutation_p.L21I			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	61					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										CTATAATGCCCTTCGAGAAAG	0.274													9	391	---	---	---	---	0	0
URI1	8725	broad.mit.edu	37	19	30477259	30477259	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:30477259G>T	ENST00000392271.1	+	4	599	c.74G>T	c.(73-75)gGg>gTg	p.G25V	URI1_ENST00000360605.4_Missense_Mutation_p.G83V|URI1_ENST00000542441.2_Missense_Mutation_p.G101V|URI1_ENST00000312051.6_Missense_Mutation_p.G61V	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	101					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										GTTTTACTGGGGGACAACTGG	0.398													7	276	---	---	---	---	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769507	31769507	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:31769507G>T	ENST00000240587.4	-	2	1519	c.1192C>A	c.(1192-1194)Ctg>Atg	p.L398M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	398					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGCTCCTGCAGGGTGTCATGC	0.572													6	228	---	---	---	---	0	0
ANKRD27	84079	broad.mit.edu	37	19	33113352	33113352	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:33113352G>T	ENST00000306065.4	-	18	1961	c.1803C>A	c.(1801-1803)ccC>ccA	p.P601P		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	601					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CACACTTGAGGGGCGTCTCCT	0.527													8	514	---	---	---	---	0	0
CEP89	84902	broad.mit.edu	37	19	33424468	33424468	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:33424468G>T	ENST00000305768.5	-	8	863	c.775C>A	c.(775-777)Ctt>Att	p.L259I	CEP89_ENST00000590597.2_Missense_Mutation_p.L259I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTTAGTTCAAGGGTAAGGCTT	0.358													8	382	---	---	---	---	0	0
RHPN2	85415	broad.mit.edu	37	19	33535271	33535271	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:33535271C>A	ENST00000254260.3	-	2	105		c.e2-1		RHPN2_ENST00000400226.4_Splice_Site	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2						signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GATTACAGCCCTGAGGAAAAA	0.428													6	124	---	---	---	---	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832949	34832949	+	Missense_Mutation	SNP	C	C	A	rs142267455		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:34832949C>A	ENST00000299505.6	+	10	2983	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	704										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ACGGGCACCCCAGGCTGGGGC	0.612													6	106	---	---	---	---	0	0
ZNF181	339318	broad.mit.edu	37	19	35231965	35231965	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:35231965C>A	ENST00000392232.3	+	6	979	c.811C>A	c.(811-813)Ctt>Att	p.L271I	ZNF181_ENST00000492450.1_Missense_Mutation_p.L227I|ZNF181_ENST00000459757.2_Missense_Mutation_p.L226I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			ATCTCTTACCCTTCCCCAGAC	0.393													7	366	---	---	---	---	0	0
LSR	51599	broad.mit.edu	37	19	35749931	35749931	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:35749931G>T	ENST00000602122.1	+	3	1169	c.682G>T	c.(682-684)Ggg>Tgg	p.G228W	LSR_ENST00000354900.3_Missense_Mutation_p.G228W|LSR_ENST00000347609.4_Missense_Mutation_p.G191W|LSR_ENST00000360798.3_Missense_Mutation_p.G228W|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000427250.1_Intron|LSR_ENST00000361790.3_Missense_Mutation_p.G228W			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	228	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGACCTCCAGGGGAACAATGA	0.592													5	113	---	---	---	---	0	0
KMT2B	9757	broad.mit.edu	37	19	36210766	36210766	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:36210766C>A	ENST00000222270.7	+	3	517	c.517C>A	c.(517-519)Ccc>Acc	p.P173T	KMT2B_ENST00000420124.1_Missense_Mutation_p.P173T|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Missense_Mutation_p.P173T	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		GGCTCCTACCCCCCCAAAGAC	0.632													6	138	---	---	---	---	0	0
KMT2B	9757	broad.mit.edu	37	19	36216191	36216191	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:36216191C>A	ENST00000222270.7	+	11	3599	c.3599C>A	c.(3598-3600)cCc>cAc	p.P1200H	KMT2B_ENST00000420124.1_Missense_Mutation_p.P1200H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		CCAGGGGGCCCCCCGATGGTG	0.597													4	50	---	---	---	---	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677768	37677768	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:37677768G>T	ENST00000532828.2	-	5	922	c.671C>A	c.(670-672)cCt>cAt	p.P224H	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.P169H|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGTTATAAGGGAAACCTTT	0.393													6	237	---	---	---	---	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858158	38858158	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:38858158C>A	ENST00000409235.3	+	24	2895	c.2780C>A	c.(2779-2781)cCc>cAc	p.P927H	CATSPERG_ENST00000410018.1_Missense_Mutation_p.P887H|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	927					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GTTTTCTACCCCTTCTTCTTG	0.552													11	976	---	---	---	---	0	0
SPRED3	399473	broad.mit.edu	37	19	38881008	38881008	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:38881008G>T	ENST00000338502.4	+	1	169	c.66G>T	c.(64-66)ggG>ggT	p.G22G	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron|SPRED3_ENST00000586301.1_Silent_p.G22G	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	22	WH1.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCCTGTGGGGGGCGGGGGCC	0.716													4	45	---	---	---	---	0	0
RYR1	6261	broad.mit.edu	37	19	39039027	39039027	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:39039027C>A	ENST00000355481.4	+	88	12365	c.12234C>A	c.(12232-12234)ccC>ccA	p.P4078P	RYR1_ENST00000360985.3_Silent_p.P4078P|RYR1_ENST00000359596.3_Silent_p.P4083P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4083					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TAACGGATCCCCGTGGCCTCA	0.552													5	189	---	---	---	---	0	0
PLD3	0	broad.mit.edu	37	19	40880402	40880402	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:40880402C>A	ENST00000409587.1	+	10	1291	c.894C>A	c.(892-894)ccC>ccA	p.P298P	PLD3_ENST00000409281.1_Silent_p.P298P|PLD3_ENST00000409419.1_Silent_p.P298P|PLD3_ENST00000409735.4_Silent_p.P298P|PLD3_ENST00000356508.5_Silent_p.P298P			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	298					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CGCCCCCACCCCTGTGTCCAA	0.597													5	151	---	---	---	---	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386418	41386418	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:41386418C>A	ENST00000301146.4	-	3	1000	c.459G>T	c.(457-459)tcG>tcT	p.S153S	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.S102S	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	153						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGAGGAAGCCCGACTCCTCCT	0.672													4	108	---	---	---	---	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132091	42132091	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:42132091G>T	ENST00000221954.2	-	2	418	c.308C>A	c.(307-309)cCc>cAc	p.P103H	CEACAM4_ENST00000600925.1_Missense_Mutation_p.P103H	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	103	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GGATCCATTGGGGTATACTGT	0.512													6	289	---	---	---	---	0	0
ATP1A3	478	broad.mit.edu	37	19	42490070	42490070	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:42490070C>A	ENST00000545399.1	-	6	744	c.591G>T	c.(589-591)aaG>aaT	p.K197N	ATP1A3_ENST00000543770.1_Missense_Mutation_p.K195N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K154N|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K184N	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	184					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.K184K(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGTCTCCACCCTTGATCTCCA	0.642													5	175	---	---	---	---	0	0
PSG1	0	broad.mit.edu	37	19	43383715	43383715	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:43383715G>T	ENST00000244296.2	-	1	156	c.19C>A	c.(19-21)Cct>Act	p.P7T	PSG1_ENST00000312439.6_Missense_Mutation_p.P7T|PSG1_ENST00000436291.2_Missense_Mutation_p.P7T|PSG1_ENST00000595356.1_Missense_Mutation_p.P7T|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.P7T|PSG1_ENST00000595124.1_Missense_Mutation_p.P7T	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GTGCAGGGAGGGGCTGAGAGG	0.567													6	237	---	---	---	---	0	0
ZNF283	284349	broad.mit.edu	37	19	44352689	44352689	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:44352689A>G	ENST00000324461.7	+	7	2233	c.1936A>G	c.(1936-1938)Aga>Gga	p.R646G	ZNF283_ENST00000588797.1_Missense_Mutation_p.R507G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	646			R -> I (in dbSNP:rs10417624).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R646G(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGTTCATGAGAGAACTCATAG	0.368													5	132	---	---	---	---	0	0
BCAM	4059	broad.mit.edu	37	19	45314562	45314562	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:45314562C>A	ENST00000589651.1	+	2	217	c.163C>A	c.(163-165)Cct>Act	p.P55T	BCAM_ENST00000270233.6_Missense_Mutation_p.P55T			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)		Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGACTGCACCCCTACGGGAAC	0.592													6	208	---	---	---	---	0	0
CD3EAP	10849	broad.mit.edu	37	19	45911704	45911704	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:45911704G>T	ENST00000309424.3	+	3	966	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.G162W|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	160					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		ACCAGTCACAGGGCCTAGGTC	0.622													5	99	---	---	---	---	0	0
TPRX1	284355	broad.mit.edu	37	19	48305095	48305095	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:48305095G>T	ENST00000535759.1	-	4	1463	c.1464C>A	c.(1462-1464)ccC>ccA	p.P488P	TPRX1_ENST00000543508.1_Silent_p.P381P|TPRX1_ENST00000322175.3_Silent_p.P391P			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	391						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CCTCCTCTTGGGGCTGAGACC	0.527													7	293	---	---	---	---	0	0
SPHK2	56848	broad.mit.edu	37	19	49131475	49131475	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:49131475G>T	ENST00000443164.1	+	4	1704	c.999G>T	c.(997-999)gtG>gtT	p.V333V	SPHK2_ENST00000598088.1_Silent_p.V271V|SPHK2_ENST00000599029.1_Silent_p.V235V|SPHK2_ENST00000599748.1_Silent_p.V235V|SPHK2_ENST00000600537.1_Silent_p.V212V|SPHK2_ENST00000245222.4_Silent_p.V271V|SPHK2_ENST00000340932.3_Silent_p.V235V|SPHK2_ENST00000601712.1_Silent_p.V235V			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	271					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGATGCCTGTGGGCATCCTCC	0.652													4	79	---	---	---	---	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967984	49967984	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:49967984C>A	ENST00000293350.4	+	12	1696	c.1533C>A	c.(1531-1533)ccC>ccA	p.P511P	ALDH16A1_ENST00000540132.1_Silent_p.P348P|CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Silent_p.P346P|ALDH16A1_ENST00000455361.2_Silent_p.P460P	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	511							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TCGCTGTTCCCTCAACCCTGC	0.617													6	273	---	---	---	---	0	0
ZNF616	90317	broad.mit.edu	37	19	52620075	52620075	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:52620075G>T	ENST00000600228.1	-	4	603	c.342C>A	c.(340-342)ccC>ccA	p.P114P	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGTTTTCATGGGGCACTGGCA	0.343													6	351	---	---	---	---	0	0
ZNF836	162962	broad.mit.edu	37	19	52659287	52659287	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:52659287C>A	ENST00000322146.8	-	5	2170	c.1649G>T	c.(1648-1650)gGg>gTg	p.G550V	ZNF836_ENST00000597252.1_Missense_Mutation_p.G550V|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTTGCTCCCCAGTATGAAT	0.373													8	418	---	---	---	---	0	0
ZNF701	55762	broad.mit.edu	37	19	53085779	53085779	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:53085779C>A	ENST00000540331.1	+	5	890	c.665C>A	c.(664-666)cCc>cAc	p.P222H	ZNF701_ENST00000391785.3_Missense_Mutation_p.P156H|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.P222H	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATATTTCACCCCGAAGGGAAA	0.418													6	225	---	---	---	---	0	0
VN1R2	317701	broad.mit.edu	37	19	53762616	53762616	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:53762616C>A	ENST00000341702.3	+	1	1072	c.988C>A	c.(988-990)Ctt>Att	p.L330I	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	330					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATGTTACGCCCTTTCCTTCAT	0.443													7	379	---	---	---	---	0	0
MIR520A	0	broad.mit.edu	37	19	54194198	54194198	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:54194198C>A	ENST00000384862.1	+	0	64					NR_030189.1																						AAGTGCTTCCCTTTGGACTGT	0.458													5	199	---	---	---	---	0	0
TMC4	147798	broad.mit.edu	37	19	54676750	54676750	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:54676750G>T	ENST00000376591.4	-	1	194	c.63C>A	c.(61-63)ccC>ccA	p.P21P	TMC4_ENST00000301187.4_Silent_p.P21P	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	21						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGCCTCCCGGGGGGCCAGCC	0.637													7	292	---	---	---	---	0	0
LILRA1	11024	broad.mit.edu	37	19	55106604	55106604	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55106604C>A	ENST00000453777.1	+	5	568	c.398C>A	c.(397-399)cCt>cAt	p.P133H	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.P133H|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	133	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTACCCAGCCCTGTGGTGACC	0.547													5	181	---	---	---	---	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331383	55331383	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55331383G>T	ENST00000391728.4	+	4	604	c.571G>T	c.(571-573)Ggg>Tgg	p.G191W	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.G191W|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.G191W|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.G96W	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TGCCCTTGCAGGGACCTACAG	0.552													7	510	---	---	---	---	0	0
EPS8L1	54869	broad.mit.edu	37	19	55589469	55589469	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55589469C>A	ENST00000201647.6	+	3	87	c.31C>A	c.(31-33)Cca>Aca	p.P11T	EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	11						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGAAGCTGCCCCAAAGCCAAG	0.572													6	88	---	---	---	---	0	0
BRSK1	84446	broad.mit.edu	37	19	55805464	55805464	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55805464C>A	ENST00000309383.1	+	5	815	c.538C>A	c.(538-540)Ctg>Atg	p.L180M	BRSK1_ENST00000590333.1_Missense_Mutation_p.L196M|BRSK1_ENST00000585418.1_Missense_Mutation_p.L180M	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	180	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CATGGCGTCCCTGCAGGTGGG	0.607													7	362	---	---	---	---	0	0
NLRP9	338321	broad.mit.edu	37	19	56243925	56243925	+	Missense_Mutation	SNP	C	C	A	rs75470507		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:56243925C>A	ENST00000332836.2	-	2	1299	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	424	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACATCACGCCCTCAGACTCAG	0.473													6	290	---	---	---	---	0	0
NLRP8	126205	broad.mit.edu	37	19	56482023	56482023	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:56482023G>T	ENST00000291971.3	+	6	2566	c.2495G>T	c.(2494-2496)gGg>gTg	p.G832V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G832V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	832						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGAACTGTGGGGCGTATTAC	0.478													6	307	---	---	---	---	0	0
ZNF304	57343	broad.mit.edu	37	19	57867524	57867524	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:57867524C>A	ENST00000391705.3	+	4	571	c.287C>A	c.(286-288)cCa>cAa	p.P96Q	ZNF304_ENST00000282286.5_Missense_Mutation_p.P96Q|ZNF304_ENST00000598744.1_Missense_Mutation_p.P54Q|ZNF304_ENST00000443917.2_Missense_Mutation_p.P143Q	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATGTGTGACCCACTCTTGAAA	0.502													4	93	---	---	---	---	0	0
ZNF304	57343	broad.mit.edu	37	19	57867922	57867922	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:57867922G>T	ENST00000391705.3	+	4	969	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	ZNF304_ENST00000282286.5_Missense_Mutation_p.G229W|ZNF304_ENST00000598744.1_Missense_Mutation_p.G187W|ZNF304_ENST00000443917.2_Missense_Mutation_p.G276W	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CGGTGATGAAGGGAAAGCCTT	0.493													5	182	---	---	---	---	0	0
ZNF587	84914	broad.mit.edu	37	19	58370392	58370392	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:58370392C>A	ENST00000339656.5	+	3	794	c.612C>A	c.(610-612)ccC>ccA	p.P204P	ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Silent_p.P203P|ZNF587_ENST00000419854.1_Silent_p.P161P|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ATGGCCCACCCTTTCAGGAGG	0.463													6	333	---	---	---	---	0	0
ZNF256	10172	broad.mit.edu	37	19	58453683	58453683	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:58453683C>A	ENST00000282308.3	-	3	689	c.493G>T	c.(493-495)Ggg>Tgg	p.G165W	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	165					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAGGGCTTCCCAGATACTTCA	0.468													5	180	---	---	---	---	0	0
DEFB128	245939	broad.mit.edu	37	20	168756	168756	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:168756C>A	ENST00000334391.4	-	2	110	c.53G>T	c.(52-54)gGg>gTg	p.G18V		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	18					defense response to bacterium	extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GAGTCTTGCCCCGTCTGTGCA	0.428													6	324	---	---	---	---	0	0
SIRPG	55423	broad.mit.edu	37	20	1616989	1616989	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:1616989G>T	ENST00000381580.1	-	3	673	c.494C>A	c.(493-495)cCc>cAc	p.P165H	RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.P198H|SIRPG_ENST00000216927.4_Missense_Mutation_p.P198H|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.P198H			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	198	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTGTCCTGTGGGGTCCACGTT	0.567													5	151	---	---	---	---	0	0
GPCPD1	56261	broad.mit.edu	37	20	5528362	5528362	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:5528362C>A	ENST00000379019.4	-	20	2176	c.1964G>T	c.(1963-1965)gGg>gTg	p.G655V	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	655					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	p.G655V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATCAGACTCCCCACACAAAGA	0.488													7	280	---	---	---	---	0	0
PLCB1	23236	broad.mit.edu	37	20	8862392	8862392	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:8862392C>A	ENST00000338037.6	+	32	3574	c.3547C>A	c.(3547-3549)Cct>Act	p.P1183T	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1183					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CGGTTCTGCCCCTCTCTCCCT	0.488													6	276	---	---	---	---	0	0
MKKS	8195	broad.mit.edu	37	20	10393194	10393194	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:10393194G>T	ENST00000347364.3	-	3	1731	c.969C>A	c.(967-969)ccC>ccA	p.P323P	MKKS_ENST00000399054.2_Silent_p.P323P	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome		Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TTTTAGTCAGGGGTTCCATCA	0.363													6	362	---	---	---	---	0	0
JAG1	182	broad.mit.edu	37	20	10620399	10620399	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:10620399G>T	ENST00000254958.5	-	26	3919	c.3404C>A	c.(3403-3405)cCc>cAc	p.P1135H	JAG1_ENST00000423891.2_Missense_Mutation_p.P976H	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1135					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATCCTTGATGGGGACCGTGTT	0.478									Alagille Syndrome				5	163	---	---	---	---	0	0
NAA20	51126	broad.mit.edu	37	20	19998659	19998659	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:19998659C>A	ENST00000398602.2	+	0	626				NAA20_ENST00000484480.1_Intron|NAA20_ENST00000334982.4_Intron|NAA20_ENST00000310450.4_Intron	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit							cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						CACTGCGTCCCCTGCAGCAGA	0.517													7	333	---	---	---	---	0	0
ZNF337	26152	broad.mit.edu	37	20	25666253	25666253	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:25666253C>A	ENST00000376436.1	-	3	739	c.200G>T	c.(199-201)gGg>gTg	p.G67V	ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.G67V|ZNF337_ENST00000538750.1_Intron					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGCACTTCCCCTTGCTCTAG	0.582													6	350	---	---	---	---	0	0
DLGAP4	22839	broad.mit.edu	37	20	35071155	35071155	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:35071155C>A	ENST00000373913.3	+	6	1862	c.1382C>A	c.(1381-1383)cCc>cAc	p.P461H	DLGAP4_ENST00000373907.2_Missense_Mutation_p.P461H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P461H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P461H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	461					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TCCCTGATCCCCCAGTTGTTT	0.582													17	1554	---	---	---	---	0	0
RBL1	5933	broad.mit.edu	37	20	35627245	35627245	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:35627245G>T	ENST00000373664.3	-	22	3190	c.3124C>A	c.(3124-3126)Cct>Act	p.P1042T		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	1042					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CGTTTGGCAGGGGATTCTGCA	0.398													7	204	---	---	---	---	0	0
RBL1	5933	broad.mit.edu	37	20	35668629	35668629	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:35668629G>T	ENST00000373664.3	-	14	1896	c.1830C>A	c.(1828-1830)ccC>ccA	p.P610P	RBL1_ENST00000344359.3_Silent_p.P610P	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	610	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTGGCATCAGGGGAAGATGTC	0.403													6	249	---	---	---	---	0	0
RALGAPB	57148	broad.mit.edu	37	20	37121612	37121612	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:37121612C>A	ENST00000262879.6	+	3	510	c.226C>A	c.(226-228)Ctt>Att	p.L76I	RALGAPB_ENST00000397040.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000537204.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.L76I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	76					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGGACTGACCCTTCCATTGGA	0.353													6	363	---	---	---	---	0	0
ZHX3	23051	broad.mit.edu	37	20	39830761	39830761	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:39830761G>T	ENST00000309060.3	-	4	3211	c.2796C>A	c.(2794-2796)ccC>ccA	p.P932P	ZHX3_ENST00000560361.1_Silent_p.P932P|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P932P|ZHX3_ENST00000432768.2_Silent_p.P932P|ZHX3_ENST00000559234.1_Silent_p.P932P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	932					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAGGGACACGGGGCTCCCACG	0.597													5	150	---	---	---	---	0	0
CHD6	0	broad.mit.edu	37	20	40049243	40049243	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:40049243G>T	ENST00000373233.3	-	31	6209	c.6032C>A	c.(6031-6033)cCc>cAc	p.P2011H		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2011					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGATATGTGGGGAAAACGTT	0.418													5	185	---	---	---	---	0	0
PABPC1L	80336	broad.mit.edu	37	20	43545423	43545423	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:43545423G>T	ENST00000255136.3	+	3	496	c.414G>T	c.(412-414)cgG>cgT	p.R138R	PABPC1L_ENST00000217073.2_Silent_p.R138R|PABPC1L_ENST00000537323.1_Silent_p.R138R|PABPC1L_ENST00000217074.4_Silent_p.R138R	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	138	RRM 2.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						ATGGCTCCCGGGGTTTCGGCT	0.557													7	286	---	---	---	---	0	0
PLTP	5360	broad.mit.edu	37	20	44540149	44540149	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:44540149C>A	ENST00000542937.1	-	1	537	c.3G>T	c.(1-3)atG>atT	p.M1I	PLTP_ENST00000420868.2_Intron|PLTP_ENST00000477313.1_5'UTR|PLTP_ENST00000372431.3_Intron|PLTP_ENST00000354050.4_Intron			P55058	PLTP_HUMAN	phospholipid transfer protein	0					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CGCTTAAACCCATTCCTTGGA	0.587													3	25	---	---	---	---	0	0
NCOA3	8202	broad.mit.edu	37	20	46262785	46262785	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:46262785C>A	ENST00000341724.6	+	10	1249	c.988C>A	c.(988-990)Cca>Aca	p.P330T	NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371998.3_Intron|NCOA3_ENST00000371997.3_Missense_Mutation_p.P330T			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	321					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GATATTTTCCCCAACAGCTTA	0.403													6	259	---	---	---	---	0	0
ATP9A	10079	broad.mit.edu	37	20	50245576	50245576	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:50245576C>A	ENST00000338821.5	-	16	1968	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	ATP9A_ENST00000402822.1_Missense_Mutation_p.K447N|ATP9A_ENST00000311637.5_Missense_Mutation_p.K432N	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	568					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CATCTGCTCCCTTCATGTAAA	0.488													5	255	---	---	---	---	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036205	57036205	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:57036205C>A	ENST00000371149.3	-	4	1377	c.1147G>T	c.(1147-1149)Ggg>Tgg	p.G383W	APCDD1L_ENST00000439429.1_Missense_Mutation_p.G394W|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	383						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GACCAGGCCCCCGCACCCCCA	0.632													5	111	---	---	---	---	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19716360	19716360	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:19716360G>T	ENST00000284885.3	-	11	1222	c.1189C>A	c.(1189-1191)Cca>Aca	p.P397T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	397	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGTCCAGTTGGGGTAGAAATG	0.393													6	215	---	---	---	---	0	0
KRTAP11-1	0	broad.mit.edu	37	21	32253560	32253560	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:32253560G>T	ENST00000332378.4	-	1	314	c.284C>A	c.(283-285)cCc>cAc	p.P95H		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	95						keratin filament	structural molecule activity	p.P95H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTTGAGCAGGGGTTGGAAAT	0.572													4	71	---	---	---	---	0	0
SON	6651	broad.mit.edu	37	21	34922453	34922453	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:34922453C>A	ENST00000356577.4	+	3	1391	c.916C>A	c.(916-918)Ctt>Att	p.L306I	SON_ENST00000381679.4_Missense_Mutation_p.L306I|SON_ENST00000300278.4_Missense_Mutation_p.L306I|SON_ENST00000290239.6_Missense_Mutation_p.L306I|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	306					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTCAGAAACCCTTGTGGTATC	0.463											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	139	---	---	---	---	0	0
ITSN1	6453	broad.mit.edu	37	21	35247673	35247673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:35247673C>A	ENST00000381318.3	+	34	4477	c.4189C>A	c.(4189-4191)Cct>Act	p.P1397T	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.P1392T|ITSN1_ENST00000381285.4_Missense_Mutation_p.P1397T|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1397	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAAAACACCCCTGAAAACCA	0.577													5	106	---	---	---	---	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467811	35467811	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:35467811G>T	ENST00000608209.1	+	2	826	c.314G>T	c.(313-315)gGg>gTg	p.G105V	SLC5A3_ENST00000381151.3_Missense_Mutation_p.G105V|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATCCGGTCAGGGGTATATACC	0.453													13	421	---	---	---	---	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468305	35468305	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:35468305C>A	ENST00000608209.1	+	2	1320	c.808C>A	c.(808-810)Cca>Aca	p.P270T	SLC5A3_ENST00000381151.3_Missense_Mutation_p.P270T|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGGCAGACCCCAGCTTCAGT	0.483													6	199	---	---	---	---	0	0
DSCR10	0	broad.mit.edu	37	21	39580507	39580507	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:39580507C>A	ENST00000432141.1	+	0	629					NR_027695.1																						CAAGCTGTCCCCGTGTGTATG	0.483													10	718	---	---	---	---	0	0
UMODL1	89766	broad.mit.edu	37	21	43541262	43541262	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:43541262G>T	ENST00000400424.2	+	16	2935	c.2539G>T	c.(2539-2541)Ggg>Tgg	p.G847W	UMODL1_ENST00000408910.2_Missense_Mutation_p.G919W|UMODL1_ENST00000400427.1_Missense_Mutation_p.G975W|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1047W	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		SEA 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AAACACCCTCGGGTCTTTCAC	0.498													5	225	---	---	---	---	0	0
UMODL1	89766	broad.mit.edu	37	21	43543034	43543034	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:43543034C>A	ENST00000400424.2	+	17	3101	c.2705C>A	c.(2704-2706)cCc>cAc	p.P902H	UMODL1_ENST00000408910.2_Missense_Mutation_p.P974H|UMODL1_ENST00000400427.1_Missense_Mutation_p.P1030H|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.P1102H	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		EGF-like 3; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCACCAGCCCCACCCCCCAA	0.632													5	58	---	---	---	---	0	0
ADARB1	104	broad.mit.edu	37	21	46642109	46642109	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:46642109C>A	ENST00000539173.1	+	12	2658	c.2223C>A	c.(2221-2223)ccC>ccA	p.P741P	ADARB1_ENST00000360697.3_Silent_p.P741P|ADARB1_ENST00000389863.4_Intron|ADARB1_ENST00000348831.4_Silent_p.P701P|ADARB1_ENST00000437626.1_3'UTR	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	741					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CACTCACGCCCTGACCCGGGC	0.652													4	27	---	---	---	---	0	0
LSS	4047	broad.mit.edu	37	21	47615609	47615609	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:47615609C>A	ENST00000397728.3	-	19	1876	c.1798G>T	c.(1798-1800)Ggg>Tgg	p.G600W	LSS_ENST00000522411.1_Missense_Mutation_p.G589W|LSS_ENST00000356396.4_Missense_Mutation_p.G600W|LSS_ENST00000457828.2_Missense_Mutation_p.G520W	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	600					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TAGGTCTGCCCCATACAGGCG	0.577													5	121	---	---	---	---	0	0
DIP2A	23181	broad.mit.edu	37	21	47957170	47957170	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:47957170G>T	ENST00000318711.7	+	14	1862	c.1679G>T	c.(1678-1680)aGg>aTg	p.R560M	DIP2A_ENST00000417564.2_Missense_Mutation_p.R559M|DIP2A_ENST00000427143.2_Missense_Mutation_p.R495M|DIP2A_ENST00000457905.3_Missense_Mutation_p.R559M|DIP2A_ENST00000435722.3_Missense_Mutation_p.R559M|DIP2A_ENST00000400274.1_Missense_Mutation_p.R555M|DIP2A_ENST00000466639.1_Missense_Mutation_p.R516M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	559					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GATTTCAAAAGGGATGCTGGT	0.458													7	514	---	---	---	---	0	0
MRPL40	64976	broad.mit.edu	37	22	19423373	19423373	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:19423373C>A	ENST00000333130.3	+	4	1162	c.509C>A	c.(508-510)cCc>cAc	p.P170H	HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	170					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AACCTGTTCCCCTTTGAGAAG	0.542													4	80	---	---	---	---	0	0
CDC45	8318	broad.mit.edu	37	22	19504130	19504130	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:19504130G>T	ENST00000407835.1	+	17	1777	c.1521G>T	c.(1519-1521)gtG>gtT	p.V507V	CDC45_ENST00000437685.2_Silent_p.V539V|CDC45_ENST00000404724.3_Silent_p.V461V|CDC45_ENST00000263201.1_Silent_p.V507V			O75419	CDC45_HUMAN	cell division cycle 45	507					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGACCGTGGTGGGCATCCCCC	0.612													4	60	---	---	---	---	0	0
IGLV2-11	0	broad.mit.edu	37	22	23135371	23135371	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:23135371G>T	ENST00000390314.2	+	0	275																											CGGCCCTCAGGGGTCCCTGAT	0.537													8	511	---	---	---	---	0	0
IGLV2-8	0	broad.mit.edu	37	22	23165662	23165662	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:23165662G>T	ENST00000390317.2	+	0	395																											CGGCCCTCAGGGGTCCCTGAT	0.552													8	458	---	---	---	---	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688975	26688975	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:26688975C>A	ENST00000529632.2	+	2	894	c.698C>A	c.(697-699)cCc>cAc	p.P233H	SEZ6L_ENST00000403121.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P233H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P233H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P233H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P233H	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	233						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGGAGGCCCCCCAGGAGGAC	0.632													4	73	---	---	---	---	0	0
SRRD	402055	broad.mit.edu	37	22	26884425	26884425	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:26884425C>A	ENST00000215917.7	+	4	594	c.580C>A	c.(580-582)Ctt>Att	p.L194I		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing						rhythmic process			p.L194I(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTTAACACCCTTGGTGTGAC	0.458													6	307	---	---	---	---	0	0
CRYBA4	1413	broad.mit.edu	37	22	27021546	27021546	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:27021546C>A	ENST00000354760.3	+	4	295	c.260C>A	c.(259-261)cCc>cAc	p.P87H	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	87	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ACGGCCTACCCCGCCGAGAGG	0.632													7	202	---	---	---	---	0	0
THOC5	8563	broad.mit.edu	37	22	29907141	29907141	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:29907141C>A	ENST00000490103.1	-	19	2064	c.1942G>T	c.(1942-1944)Ggg>Tgg	p.G648W	THOC5_ENST00000397871.1_Missense_Mutation_p.G648W|THOC5_ENST00000397872.1_Missense_Mutation_p.G648W|THOC5_ENST00000397873.2_Missense_Mutation_p.G648W	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	648					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCTTGGGCCCCTCCACACTG	0.587													5	175	---	---	---	---	0	0
NF2	4771	broad.mit.edu	37	22	30057273	30057273	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:30057273C>A	ENST00000338641.4	+	8	1196	c.755C>A	c.(754-756)cCc>cAc	p.P252H	NF2_ENST00000347330.5_Missense_Mutation_p.P93H|NF2_ENST00000403999.3_Missense_Mutation_p.P252H|NF2_ENST00000361676.4_Missense_Mutation_p.P210H|NF2_ENST00000334961.7_Missense_Mutation_p.P169H|NF2_ENST00000397789.3_Missense_Mutation_p.P252H|NF2_ENST00000403435.1_Missense_Mutation_p.P252H|NF2_ENST00000361452.4_Missense_Mutation_p.P211H|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Missense_Mutation_p.P169H|NF2_ENST00000361166.4_Missense_Mutation_p.P252H	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	252	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.R249fs*8(1)|p.D245fs*31(1)|p.N226_E270del(1)|p.L232_P257del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AGACTGACCCCCAAGATCTCC	0.498			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				5	182	---	---	---	---	0	0
MTMR3	8897	broad.mit.edu	37	22	30412587	30412587	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:30412587G>T	ENST00000333027.3	+	15	1902	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.G525V|MTMR3_ENST00000401950.2_Missense_Mutation_p.G525V|MTMR3_ENST00000323630.5_Missense_Mutation_p.G389V|MTMR3_ENST00000406629.1_Missense_Mutation_p.G525V	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	525	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAGGAGAGAGGGGAAAAGCAT	0.478													7	315	---	---	---	---	0	0
RBFOX2	23543	broad.mit.edu	37	22	36177715	36177715	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:36177715G>T	ENST00000405409.2	-	3	699	c.331C>A	c.(331-333)Ccg>Acg	p.P111T	RBFOX2_ENST00000449924.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000262829.7_Missense_Mutation_p.P110T|RBFOX2_ENST00000359369.4_Missense_Mutation_p.P90T|RBFOX2_ENST00000438146.2_Missense_Mutation_p.P181T|RBFOX2_ENST00000397303.2_Missense_Mutation_p.P91T|RBFOX2_ENST00000416721.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000414461.2_Missense_Mutation_p.P110T	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	120					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						AGCCGTTTCGGGGTAGATTTA	0.458													6	344	---	---	---	---	0	0
GGA1	26088	broad.mit.edu	37	22	38010280	38010280	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:38010280G>T	ENST00000343632.4	+	2	513	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	GGA1_ENST00000414350.3_Splice_Site_p.G43W|GGA1_ENST00000325180.8_Splice_Site_p.G43W|GGA1_ENST00000381756.5_Splice_Site_p.G43W|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Splice_Site_p.G43W|GGA1_ENST00000337437.4_Splice_Site_p.G43W	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	43	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	p.G43R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGACTTTGAGGGGTAGGTGGC	0.592													4	56	---	---	---	---	0	0
EIF3L	51386	broad.mit.edu	37	22	38258978	38258978	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:38258978G>T	ENST00000412331.2	+	6	1020	c.438G>T	c.(436-438)ggG>ggT	p.G146G	EIF3L_ENST00000406934.1_Silent_p.G48G|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	146						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTTACAGGGGGGACCTTCCT	0.378													6	218	---	---	---	---	0	0
EP300	2033	broad.mit.edu	37	22	41527561	41527561	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:41527561C>A	ENST00000263253.7	+	6	2671	c.1452C>A	c.(1450-1452)ccC>ccA	p.P484P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	484					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CGACACAACCCCAGGTGCAAG	0.498			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				5	138	---	---	---	---	0	0
EP300	2033	broad.mit.edu	37	22	41551078	41551078	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:41551078C>A	ENST00000263253.7	+	17	4441	c.3222C>A	c.(3220-3222)ccC>ccA	p.P1074P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1074	Bromo.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATCCCTTCCCTTTCGTCAAC	0.383			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				8	566	---	---	---	---	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41605896	41605896	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:41605896C>A	ENST00000216237.5	+	2	379	c.221C>A	c.(220-222)cCt>cAt	p.P74H	RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	74					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGCTCAGCCCTGGGACTCCT	0.567													5	180	---	---	---	---	0	0
POLDIP3	84271	broad.mit.edu	37	22	42998805	42998805	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:42998805G>T	ENST00000252115.5	-	2	525	c.421C>A	c.(421-423)Cct>Act	p.P141T	POLDIP3_ENST00000451060.2_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.P141T|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Missense_Mutation_p.P141T	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	141					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TTCAGAGCAGGGGTCACTGTC	0.532													6	186	---	---	---	---	0	0
EFCAB6	64800	broad.mit.edu	37	22	44178084	44178084	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:44178084G>T	ENST00000262726.7	-	3	368	c.115C>A	c.(115-117)Cca>Aca	p.P39T	EFCAB6_ENST00000358439.4_Silent_p.P3P|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000356087.4_Silent_p.P3P	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AACTTATTTGGGGAACCATTC	0.358													8	267	---	---	---	---	0	0
TRMU	55687	broad.mit.edu	37	22	46733731	46733731	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:46733731G>T	ENST00000290846.4	+	2	478	c.138G>T	c.(136-138)ggG>ggT	p.G46G	TRMU_ENST00000424260.2_Silent_p.G11G|TRMU_ENST00000381019.3_Silent_p.G46G	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	46						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		ATGAACATGGGGTCTGTACTG	0.453													5	170	---	---	---	---	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987604	50987604	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:50987604C>A	ENST00000395676.2	+	1	1143	c.1009C>A	c.(1009-1011)Cag>Aag	p.Q337K		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	337										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCCTGACCCAGGTGCCCGA	0.697													5	187	---	---	---	---	0	0
PPP2R3B	28227	broad.mit.edu	37	X	307979	307979	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:307979G>T	ENST00000390665.3	-	4	725	c.707C>A	c.(706-708)cCc>cAc	p.P236H		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	236					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCAAGAAGGGGACAAAGTC	0.617													5	139	---	---	---	---	0	0
BMX	660	broad.mit.edu	37	X	15534241	15534241	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:15534241G>T	ENST00000357607.2	+	5	520	c.332G>T	c.(331-333)aGg>aTg	p.R111M	BMX_ENST00000342014.6_Missense_Mutation_p.R111M|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Missense_Mutation_p.R111M			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	111	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TCAGAGATAAGGGGTAACCCC	0.478													5	159	---	---	---	---	0	0
GPR64	10149	broad.mit.edu	37	X	19031991	19031991	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:19031991G>T	ENST00000354791.3	-	15	1105	c.864C>A	c.(862-864)ccC>ccA	p.P288P	GPR64_ENST00000360279.4_Silent_p.P282P|GPR64_ENST00000340581.3_Silent_p.P274P|GPR64_ENST00000379876.1_Silent_p.P280P|GPR64_ENST00000379869.3_Silent_p.P304P|GPR64_ENST00000357544.3_Silent_p.P274P|GPR64_ENST00000356606.4_Silent_p.P290P|GPR64_ENST00000379873.2_Silent_p.P304P|GPR64_ENST00000379878.3_Silent_p.P288P|GPR64_ENST00000357991.3_Silent_p.P301P			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	304					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTGAAGGCTGGGGTGAAAGGG	0.557													4	84	---	---	---	---	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20185708	20185708	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:20185708C>A	ENST00000379565.3	-	17	1808	c.1601G>T	c.(1600-1602)gGg>gTg	p.G534V	RPS6KA3_ENST00000379548.4_Splice_Site_p.G504V|RPS6KA3_ENST00000540702.1_Splice_Site_p.G505V|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Splice_Site_p.G506V	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	534	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						AAGACTTACCCCTTGTGCGTG	0.343													6	239	---	---	---	---	0	0
PHEX	5251	broad.mit.edu	37	X	22132642	22132642	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:22132642C>A	ENST00000379374.4	+	11	1805	c.1240C>A	c.(1240-1242)Ctc>Atc	p.L414I	PHEX_ENST00000535894.1_Missense_Mutation_p.L317I|PHEX_ENST00000418858.3_Missense_Mutation_p.L117I|PHEX_ENST00000537599.1_Missense_Mutation_p.L414I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	414					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGAAAGTGCCCTCCCTTATGT	0.403													5	122	---	---	---	---	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972728	29972728	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:29972728C>A	ENST00000378993.1	+	10	1964	c.1291C>A	c.(1291-1293)Ctt>Att	p.L431I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L431I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	431	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.L431I(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACGTTTTGCCCTTGAAATCCT	0.348													5	115	---	---	---	---	0	0
BTK	695	broad.mit.edu	37	X	100613415	100613415	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:100613415C>A	ENST00000308731.7	-	12	1148	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	BTK_ENST00000372880.1_Missense_Mutation_p.G329W	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	329	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CGTATCACCCCTTGAGGGTCC	0.473									Agammaglobulinemia, X-linked				4	111	---	---	---	---	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911778	100911778	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:100911778C>A	ENST00000328766.5	-	5	1250	c.797G>T	c.(796-798)gGg>gTg	p.G266V	ARMCX2_ENST00000356824.4_Missense_Mutation_p.G266V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G266V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	266	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CGGTATAGCCCCAGTGTGAGC	0.587													5	144	---	---	---	---	0	0
CAPN6	827	broad.mit.edu	37	X	110494932	110494932	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:110494932C>A	ENST00000324068.1	-	6	905	c.738G>T	c.(736-738)tgG>tgT	p.W246C	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	246	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TCAGCAGACCCCAATCAGTTT	0.453													7	426	---	---	---	---	0	0
TRPC5	7224	broad.mit.edu	37	X	111025269	111025269	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:111025269G>T	ENST00000262839.2	-	8	2912	c.1994C>A	c.(1993-1995)cCc>cAc	p.P665H		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	665					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTGGGGCTGGGGATGATGTT	0.488													5	148	---	---	---	---	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185484	127185484	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:127185484C>A	ENST00000371124.3	-	1	898	c.702G>T	c.(700-702)cgG>cgT	p.R234R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	234						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGACCTCTCCCCGGCTCTTGC	0.512													5	166	---	---	---	---	0	0
BCORL1	63035	broad.mit.edu	37	X	129159054	129159054	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:129159054C>A	ENST00000540052.1	+	6	3822	c.3778C>A	c.(3778-3780)Ccc>Acc	p.P1260T	BCORL1_ENST00000218147.7_Missense_Mutation_p.P1260T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1260T|BCORL1_ENST00000359304.2_Intron	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1260					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGAGGTAACCCCCACCCCAGC	0.577													5	120	---	---	---	---	0	0
OR13H1	347468	broad.mit.edu	37	X	130678846	130678846	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:130678846C>A	ENST00000338616.3	+	1	897	c.799C>A	c.(799-801)Cct>Act	p.P267T		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CAAGTCCTACCCTGACCAGGA	0.453													5	186	---	---	---	---	0	0
ZIC3	7547	broad.mit.edu	37	X	136652080	136652080	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:136652080C>A	ENST00000287538.5	+	3	1805	c.1255C>A	c.(1255-1257)Cct>Act	p.P419T	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Intron	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	419					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGATTCCTCCCCTGCTGCCAG	0.403													5	156	---	---	---	---	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985097	140985097	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:140985097C>A	ENST00000298296.1	+	7	1553	c.1553C>A	c.(1552-1554)cCc>cAc	p.P518H	MAGEC3_ENST00000536088.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P140H	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	518	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GATATGGACCCCGACAACCAC	0.448													5	188	---	---	---	---	0	0
AFF2	2334	broad.mit.edu	37	X	147733627	147733627	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:147733627G>T	ENST00000370460.2	+	2	634	c.155G>T	c.(154-156)gGg>gTg	p.G52V	AFF2_ENST00000370458.1_Missense_Mutation_p.G52V|AFF2_ENST00000370457.5_Missense_Mutation_p.G52V|AFF2_ENST00000342251.3_Missense_Mutation_p.G52V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	52					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GATCTTTTTGGGGAGCCATAC	0.368													5	182	---	---	---	---	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798186	148798186	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:148798186G>T	ENST00000355220.5	+	5	1142	c.1040G>T	c.(1039-1041)aGg>aTg	p.R347M	MAGEA11_ENST00000333104.4_Missense_Mutation_p.R318M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	347	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TATGCTGGAAGGGAGCACTTC	0.537													7	251	---	---	---	---	0	0
CNGA2	1260	broad.mit.edu	37	X	150909341	150909341	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:150909341C>A	ENST00000329903.4	+	4	483	c.450C>A	c.(448-450)ccC>ccA	p.P150P		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	150					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCATGCCCGTCCTTTACA	0.557													4	168	---	---	---	---	0	0
C1orf173	127254	broad.mit.edu	37	1	75038884	75038884	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:75038884C>A	ENST00000326665.5	-	14	2728	c.2510G>T	c.(2509-2511)aGg>aTg	p.R837M	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	837	Glu-rich.							p.R837M(1)|p.R837K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTGCCCCCCTTTCTATGCC	0.562													21	227	---	---	---	---	0	0
NTNG1	22854	broad.mit.edu	37	1	107961230	107961230	+	Silent	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:107961230G>A	ENST00000370067.1	+	6	1743	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370071.2_Silent_p.P372P|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370061.3_Silent_p.P372P|NTNG1_ENST00000370070.2_Silent_p.P372P|NTNG1_ENST00000370066.1_Silent_p.P372P			Q9Y2I2	NTNG1_HUMAN	netrin G1	380	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding	p.P372P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGATATGGCCGAATATTTCTT	0.368													16	26	---	---	---	---	0	0
OVGP1	5016	broad.mit.edu	37	1	111969101	111969101	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:111969101T>C	ENST00000369732.3	-	3	273	c.218A>G	c.(217-219)gAt>gGt	p.D73G	OVGP1_ENST00000540696.1_Missense_Mutation_p.D13G	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	73					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.D73G(1)|p.D115G(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AATTTTCTCATCCTGGAGATC	0.428													11	201	---	---	---	---	0	0
LCE2D	353141	broad.mit.edu	37	1	152636733	152636733	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:152636733G>T	ENST00000368784.1	+	2	207	c.152G>T	c.(151-153)aGc>aTc	p.S51I		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	51	Cys-rich.				keratinization			p.S51I(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTCCCAGCTCTGGGAGC	0.647													109	191	---	---	---	---	0	0
AIM2	9447	broad.mit.edu	37	1	159033301	159033301	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:159033301G>A	ENST00000368130.4	-	5	1268	c.980C>T	c.(979-981)aCa>aTa	p.T327I		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	327	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.T327I(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AACTCCAGATGTCAGCTGTAG	0.423													91	348	---	---	---	---	0	0
CR1L	1379	broad.mit.edu	37	1	207870862	207870862	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:207870862C>A	ENST00000508064.2	+	6	937	c.877C>A	c.(877-879)Cca>Aca	p.P293T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	293	Sushi 5.					cytoplasm|extracellular region|membrane		p.P293T(1)|p.P301T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGCCACCTCCAGATGTCCT	0.478													110	249	---	---	---	---	0	0
CD46	4179	broad.mit.edu	37	1	207932991	207932991	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:207932991T>G	ENST00000358170.2	+	4	553	c.397T>G	c.(397-399)Tta>Gta	p.L133V	CD46_ENST00000367047.1_Missense_Mutation_p.L70V|CD46_ENST00000367041.1_Missense_Mutation_p.L133V|CD46_ENST00000480003.1_Missense_Mutation_p.L133V|CD46_ENST00000354848.1_Missense_Mutation_p.L133V|CD46_ENST00000357714.1_Missense_Mutation_p.L133V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.L133V|CD46_ENST00000367042.1_Missense_Mutation_p.L133V|CD46_ENST00000441839.2_Missense_Mutation_p.L133V|CD46_ENST00000360212.2_Missense_Mutation_p.L133V|CD46_ENST00000322875.4_Missense_Mutation_p.L133V|CD46_ENST00000361067.1_Missense_Mutation_p.L133V	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	133	Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	p.L133V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TAGTTATTACTTAATTGGTGA	0.279													23	45	---	---	---	---	0	0
HEATR1	55127	broad.mit.edu	37	1	236760202	236760202	+	Silent	SNP	C	C	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:236760202C>G	ENST00000366582.3	-	6	792	c.678G>C	c.(676-678)tcG>tcC	p.S226S	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Silent_p.S226S	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	226					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.S226S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTACCAGCGCCGACACTATGG	0.448													3	116	---	---	---	---	0	0
TFB2M	64216	broad.mit.edu	37	1	246729167	246729167	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:246729167G>C	ENST00000366514.4	-	1	459	c.274C>G	c.(274-276)Cca>Gca	p.P92A	TFB2M_ENST00000544618.1_Missense_Mutation_p.P92A	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	92					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	p.P92A(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			GGTCTACTTGGTTTTCCCAAA	0.473													3	137	---	---	---	---	0	0
OR11L1	391189	broad.mit.edu	37	1	248004290	248004290	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:248004290C>A	ENST00000355784.2	-	1	964	c.909G>T	c.(907-909)aaG>aaT	p.K303N		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K303N(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTCATGACCTTTCTAACAG	0.378													49	57	---	---	---	---	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125367413	125367413	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr2:125367413C>A	ENST00000431078.1	+	12	2153	c.1789C>A	c.(1789-1791)Cag>Aag	p.Q597K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	597	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.Q597K(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTACAGGCACCAGGGGAATAC	0.527													4	162	---	---	---	---	0	0
MUC4	4585	broad.mit.edu	37	3	195515854	195515854	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr3:195515854G>A	ENST00000463781.3	-	2	3056	c.2597C>T	c.(2596-2598)tCg>tTg	p.S866L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S866L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	871	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S866L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGACGATCGAAGACGCCAT	0.592													4	54	---	---	---	---	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73186511	73186511	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr4:73186511C>G	ENST00000286657.4	-	7	1058	c.1022G>C	c.(1021-1023)aGa>aCa	p.R341T		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	341	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.R341T(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGATCAGATCTTTGCTGTTG	0.443													10	227	---	---	---	---	0	0
EFHC1	114327	broad.mit.edu	37	6	52285247	52285247	+	Silent	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:52285247G>A	ENST00000371068.5	+	1	142	c.39G>A	c.(37-39)ccG>ccA	p.P13P	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	13						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	p.P13P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CCTTTCTTCCGGGCACGTCCT	0.622													3	72	---	---	---	---	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123127429	123127429	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:123127429G>A	ENST00000368440.4	+	7	1148	c.971G>A	c.(970-972)aGt>aAt	p.S324N	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.S193N	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	324					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	p.S324N(1)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CCAGTGAAGAGTGTTTTAGAA	0.358													14	124	---	---	---	---	0	0
MEPCE	56257	broad.mit.edu	37	7	100028387	100028387	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr7:100028387A>C	ENST00000310512.2	+	1	1134	c.746A>C	c.(745-747)cAt>cCt	p.H249P	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	249							methyltransferase activity	p.H249P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGAGGGCCATGTAGTTCTT	0.582													18	291	---	---	---	---	0	0
VGF	7425	broad.mit.edu	37	7	100807590	100807590	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr7:100807590C>G	ENST00000249330.2	-	2	774	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	VGF_ENST00000445482.2_Missense_Mutation_p.E179Q	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	179					response to cAMP	extracellular space|transport vesicle	growth factor activity	p.E179Q(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCGCCGTCTCCTGCTGGCGC	0.672													3	80	---	---	---	---	0	0
KLF10	7071	broad.mit.edu	37	8	103664291	103664291	+	Splice_Site	SNP	T	T	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr8:103664291T>A	ENST00000395884.3	-	3	1140		c.e3-2		KLF10_ENST00000285407.6_Splice_Site	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10						cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AGTCAAACACTAAAGAAAAGG	0.333											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	74	---	---	---	---	0	0
ZHX1	11244	broad.mit.edu	37	8	124265827	124265827	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr8:124265827T>C	ENST00000395571.3	-	3	2977	c.2360A>G	c.(2359-2361)gAt>gGt	p.D787G	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.D787G|ZHX1_ENST00000522655.1_Missense_Mutation_p.D787G	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	787					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D787G(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGGTAATAATCCTTAAGTAT	0.423													6	565	---	---	---	---	0	0
VPS13A	23230	broad.mit.edu	37	9	79981645	79981645	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr9:79981645A>T	ENST00000360280.3	+	61	8588	c.8328A>T	c.(8326-8328)ttA>ttT	p.L2776F	VPS13A_ENST00000357409.5_Missense_Mutation_p.L2776F|VPS13A_ENST00000376636.3_Missense_Mutation_p.L2737F|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2776F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2776					Golgi to endosome transport|protein transport	intracellular	protein binding	p.L2776F(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTTTAGTTACATTTAAGTG	0.269													4	79	---	---	---	---	0	0
SH2D3C	10044	broad.mit.edu	37	9	130504081	130504081	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr9:130504081G>C	ENST00000314830.8	-	9	2187	c.2074C>G	c.(2074-2076)Ctg>Gtg	p.L692V	SH2D3C_ENST00000373276.3_Missense_Mutation_p.L624V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L534V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L535V|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L338V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L532V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	692	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCATGTCCAGGGCACCCATG	0.637													15	32	---	---	---	---	0	0
PTEN	5728	broad.mit.edu	37	10	89720826	89720826	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr10:89720826A>G	ENST00000371953.3	+	8	2334	c.977A>G	c.(976-978)gAc>gGc	p.D326G	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	326	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AATGATCTTGACAAAGCAAAT	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			7	161	---	---	---	---	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734248	26734248	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr11:26734248T>A	ENST00000396005.3	-	2	654	c.345A>T	c.(343-345)ttA>ttT	p.L115F	SLC5A12_ENST00000280467.6_Missense_Mutation_p.L115F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	115					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.L115F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATCGTAGTTGTAAGTACTAAA	0.428													8	453	---	---	---	---	0	0
OR5L2	26338	broad.mit.edu	37	11	55595427	55595427	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr11:55595427C>A	ENST00000378397.1	+	1	733	c.733C>A	c.(733-735)Ctc>Atc	p.L245I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L245I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCCTCCCACCTCACAGCCAT	0.498										HNSCC(27;0.073)			5	179	---	---	---	---	0	0
UBC	7316	broad.mit.edu	37	12	125398090	125398090	+	Silent	SNP	C	C	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr12:125398090C>T	ENST00000536769.1	-	1	1804	c.228G>A	c.(226-228)ggG>ggA	p.G76G	UBC_ENST00000538617.1_Silent_p.G76G|UBC_ENST00000546120.1_Silent_p.G76G|UBC_ENST00000339647.5_Silent_p.G76G			P0CG48	UBC_HUMAN	ubiquitin C	76	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.G76G(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGATTTGCATCCCACCTCTGA	0.532													8	346	---	---	---	---	0	0
RNF17	56163	broad.mit.edu	37	13	25376711	25376711	+	Splice_Site	SNP	T	T	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.?(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTAGCAAAGTAAGTAACTTA	0.323													5	183	---	---	---	---	0	0
PCSK6	5046	broad.mit.edu	37	15	101938639	101938639	+	Silent	SNP	A	A	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr15:101938639A>C	ENST00000348070.1	-	8	962	c.963T>G	c.(961-963)gcT>gcG	p.A321A	PCSK6_ENST00000358417.3_Silent_p.A321A|PCSK6_ENST00000398181.2_Silent_p.A321A|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Silent_p.A321A|PCSK6_ENST00000331826.7_Silent_p.A156A	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	322	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.A321A(3)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCCTGCTTAGCCAGTCGGC	0.552													7	171	---	---	---	---	0	0
CDH8	1006	broad.mit.edu	37	16	61935093	61935093	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr16:61935093C>A	ENST00000577390.1	-	3	1491	c.537G>T	c.(535-537)atG>atT	p.M179I	CDH8_ENST00000584337.1_Missense_Mutation_p.M179I|CDH8_ENST00000299345.6_Missense_Mutation_p.M179I|CDH8_ENST00000577730.1_Missense_Mutation_p.M179I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	179	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.M179I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCAAAATGGACATTTCTGGCA	0.383													5	193	---	---	---	---	0	0
POLDIP2	26073	broad.mit.edu	37	17	26680002	26680002	+	Silent	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr17:26680002G>A	ENST00000540200.1	-	7	554	c.555C>T	c.(553-555)tcC>tcT	p.S185S	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	186						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCTGATCAGTGGAGGTGTAGG	0.488													17	41	---	---	---	---	0	0
INSR	0	broad.mit.edu	37	19	7174736	7174736	+	Silent	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:7174736C>A	ENST00000341500.5	-	4	1020	c.981G>T	c.(979-981)ctG>ctT	p.L327L	INSR_ENST00000302850.5_Silent_p.L327L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	327	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.L327L(3)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGGGGTGCACAGCAAGCTAA	0.587													3	37	---	---	---	---	0	0
SPC24	147841	broad.mit.edu	37	19	11258496	11258496	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:11258496C>A	ENST00000592540.1	-	4	516	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	162	Interaction with the C-terminus of SPBC25.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.G162V(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						AAGGATACTGCCTTTGACCAT	0.438													3	37	---	---	---	---	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48202015	48202015	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:48202015C>T	ENST00000396720.3	+	12	3567	c.3373C>T	c.(3373-3375)Ccc>Tcc	p.P1125S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1125							protein binding	p.P1125S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGGCGCCCTCCCCTCCCCCAG	0.682											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9	---	---	---	---	0	0
GRHL3	57822	broad.mit.edu	37	1	24676595	24676595	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:24676595C>G	ENST00000361548.4	+	15	1907	c.1677C>G	c.(1675-1677)taC>taG	p.Y559*	GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Y564*|GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Y513*|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Y466*|GRHL3_ENST00000350501.5_Nonsense_Mutation_p.Y559*	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	559					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Y564*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACAAAGTCTACAAGAAATGCA	0.498													3	51	---	---	---	---	0	0
RUNX3	864	broad.mit.edu	37	1	25229113	25229113	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:25229113G>A	ENST00000399916.1	-	6	1228	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	RUNX3_ENST00000338888.3_Missense_Mutation_p.R264C|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Missense_Mutation_p.R250C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R157C	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	250	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R264C(1)|p.R250C(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGGAAGGAGCGGTCAAACTGG	0.637													5	202	---	---	---	---	0	0
MACF1	23499	broad.mit.edu	37	1	39798824	39798824	+	Silent	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:39798824A>G	ENST00000564288.1	+	37	7341	c.6564A>G	c.(6562-6564)ggA>ggG	p.G2188G	MACF1_ENST00000289893.4_Silent_p.G628G|MACF1_ENST00000567887.1_Silent_p.G2225G|MACF1_ENST00000372915.3_Silent_p.G2193G|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2193					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGAAACTGGAGGATCTCACA	0.358													3	154	---	---	---	---	0	0
CACNA1S	779	broad.mit.edu	37	1	201061108	201061108	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:201061108C>A	ENST00000362061.3	-	4	759	c.533G>T	c.(532-534)gGg>gTg	p.G178V	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G178V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	178					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.G178V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACTAGGCACCCCCGACACCAG	0.612													3	69	---	---	---	---	0	0
ATP2B4	493	broad.mit.edu	37	1	203681221	203681221	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:203681221T>C	ENST00000357681.5	+	13	3288	c.2165T>C	c.(2164-2166)tTa>tCa	p.L722S	ATP2B4_ENST00000367219.3_Missense_Mutation_p.L710S|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L722S|ATP2B4_ENST00000367218.3_Missense_Mutation_p.L722S|ATP2B4_ENST00000391954.2_Missense_Mutation_p.L722S	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	722					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTCCTGTGCTTAGAAGGCAAA	0.547													3	168	---	---	---	---	0	0
TRIM43	129868	broad.mit.edu	37	2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular	zinc ion binding	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398													4	76	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179659235	179659235	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:179659235A>T	ENST00000589042.1	-	8	1513	c.1289T>A	c.(1288-1290)gTt>gAt	p.V430D	TTN_ENST00000591111.1_Missense_Mutation_p.V430D|TTN_ENST00000359218.5_Missense_Mutation_p.V430D|TTN_ENST00000460472.2_Missense_Mutation_p.V430D|TTN_ENST00000342175.6_Missense_Mutation_p.V430D|TTN_ENST00000342992.6_Missense_Mutation_p.V430D|TTN_ENST00000360870.5_Missense_Mutation_p.V430D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	430	Ala-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V430D(7)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACGGCAGCAACAACAGTCGC	0.458													9	151	---	---	---	---	0	0
PPARG	5468	broad.mit.edu	37	3	12475528	12475528	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr3:12475528A>G	ENST00000397026.2	+	9	1719	c.1336A>G	c.(1336-1338)Aca>Gca	p.T446A	PPARG_ENST00000309576.6_Missense_Mutation_p.T440A|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397010.2_Missense_Mutation_p.T440A|PPARG_ENST00000287820.6_Missense_Mutation_p.T468A|PPARG_ENST00000397015.2_Missense_Mutation_p.T440A|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397012.2_Missense_Mutation_p.T440A			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	468	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.T468A(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCAGAAAATGACAGACCTCAG	0.522			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						3	101	---	---	---	---	0	0
ATG12	9140	broad.mit.edu	37	5	115177236	115177236	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr5:115177236G>A	ENST00000509910.1	-	1	319	c.14C>T	c.(13-15)cCg>cTg	p.P5L	AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|ATG12_ENST00000274459.4_Missense_Mutation_p.P52L			O94817	ATG12_HUMAN	autophagy related 12	5					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	p.P52L(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CACAGACTGCGGCTCCTCCGC	0.607													81	92	---	---	---	---	0	0
SUN1	23353	broad.mit.edu	37	7	888226	888226	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr7:888226A>G	ENST00000456758.2	+	9	1004	c.1004A>G	c.(1003-1005)tAt>tGt	p.Y335C	SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000413514.2_Missense_Mutation_p.Y25C|SUN1_ENST00000389574.3_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCGAAAGCTATAAGTCAAAA	0.328													65	154	---	---	---	---	0	0
DLX5	1749	broad.mit.edu	37	7	96653697	96653697	+	Missense_Mutation	SNP	A	A	T	rs149635296	byFrequency	TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr7:96653697A>T	ENST00000222598.4	-	1	712	c.239T>A	c.(238-240)gTg>gAg	p.V80E	DLX5_ENST00000486603.2_Missense_Mutation_p.V80E|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	80					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V80E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGAGCCGTTCACGCCGTGATA	0.612													22	58	---	---	---	---	0	0
RGS20	8601	broad.mit.edu	37	8	54791832	54791832	+	Silent	SNP	A	A	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:54791832A>T	ENST00000297313.3	+	2	272	c.180A>T	c.(178-180)gcA>gcT	p.A60A	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	60					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.A60A(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TCCCGCCTGCACAGCTCCCAG	0.597													88	166	---	---	---	---	0	0
SULF1	23213	broad.mit.edu	37	8	70498706	70498706	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:70498706A>G	ENST00000260128.4	+	7	1244	c.527A>G	c.(526-528)aAt>aGt	p.N176S	SULF1_ENST00000402687.4_Missense_Mutation_p.N176S|SULF1_ENST00000419716.3_Missense_Mutation_p.N176S|SULF1_ENST00000458141.2_Missense_Mutation_p.N176S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	176					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.N176S(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTTTGTCGCAATGGCATCAAA	0.388													16	293	---	---	---	---	0	0
RBM12B	389677	broad.mit.edu	37	8	94746488	94746488	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:94746488C>G	ENST00000399300.2	-	3	2364	c.2151G>C	c.(2149-2151)caG>caC	p.Q717H	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	717							nucleotide binding|RNA binding	p.Q717H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTGGGGTGACTGCCTGAAGT	0.627													145	235	---	---	---	---	0	0
ANXA13	312	broad.mit.edu	37	8	124705463	124705463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:124705463G>A	ENST00000262219.6	-	9	806	c.739C>T	c.(739-741)Cga>Tga	p.R247*	ANXA13_ENST00000419625.1_Nonsense_Mutation_p.R206*	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	206					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	p.R247*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGGTGGCTCGTAACTGCTTG	0.448													9	404	---	---	---	---	0	0
CYC1	1537	broad.mit.edu	37	8	145150822	145150822	+	Silent	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:145150822G>A	ENST00000318911.4	+	2	289	c.216G>A	c.(214-216)gcG>gcA	p.A72A		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	72					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	p.A72A(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGGGTGCGGGGCTGGCCA	0.652											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	67	---	---	---	---	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968943	5968943	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr9:5968943G>T	ENST00000399933.3	-	3	1287	c.1288C>A	c.(1288-1290)Ctt>Att	p.L430I	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L430I	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	430								p.L430I(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGACCCTTAAGTAGCCACACT	0.383													5	32	---	---	---	---	0	0
OR52E4	390081	broad.mit.edu	37	11	5905957	5905957	+	Silent	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:5905957C>T	ENST00000316987.2	+	1	457	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I145I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCAGTATCCTAGCTTCTG	0.453													6	256	---	---	---	---	0	0
CNTN5	53942	broad.mit.edu	37	11	99690380	99690380	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:99690380A>C	ENST00000524871.1	+	4	451	c.161A>C	c.(160-162)tAc>tCc	p.Y54S	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.Y54S|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y54S|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y54S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	54					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.Y54S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGACCACGATACAGCAGCCCT	0.428													5	188	---	---	---	---	0	0
C11orf70	85016	broad.mit.edu	37	11	101946634	101946634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:101946634G>T	ENST00000434758.2	+	5	494	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	C11orf70_ENST00000526781.1_Nonsense_Mutation_p.E156*|C11orf70_ENST00000534360.1_Nonstop_Mutation_p.*100L	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	156								p.E118*(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAAAAATATGAAATATTCAG	0.343													17	191	---	---	---	---	0	0
HELB	92797	broad.mit.edu	37	12	66725033	66725033	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:66725033T>C	ENST00000247815.4	+	12	2829	c.2770T>C	c.(2770-2772)Tat>Cat	p.Y924H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	924					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.Y924H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGCCGAGTGTATGTGATTGC	0.532													43	99	---	---	---	---	0	0
NAV3	89795	broad.mit.edu	37	12	78562611	78562611	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:78562611A>G	ENST00000397909.2	+	24	5119	c.4946A>G	c.(4945-4947)cAg>cGg	p.Q1649R	NAV3_ENST00000228327.6_Missense_Mutation_p.Q1649R|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1472R|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1649R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1649						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCGGCTATTCAGGGAGCACTG	0.373										HNSCC(70;0.22)			3	226	---	---	---	---	0	0
ACSS3	79611	broad.mit.edu	37	12	81647350	81647350	+	Silent	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:81647350T>C	ENST00000548058.1	+	15	2806	c.1896T>C	c.(1894-1896)gcT>gcC	p.A632A	ACSS3_ENST00000261206.3_Silent_p.A631A|ACSS3_ENST00000548324.1_Silent_p.A314A			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	632						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTGTGGCTGCTTTTCGAAATG	0.433													6	207	---	---	---	---	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102474613	102474613	+	Silent	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr14:102474613C>A	ENST00000360184.4	+	29	6080	c.5916C>A	c.(5914-5916)tcC>tcA	p.S1972S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1972	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.S1972S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGCTGTGTCCCAGCAGGTGC	0.537													38	51	---	---	---	---	0	0
TIMM22	29928	broad.mit.edu	37	17	900589	900589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:900589C>A	ENST00000327158.4	+	1	233	c.207C>A	c.(205-207)tgC>tgA	p.C69*		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)						transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	p.C69*(1)		breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGGAAAGCTGCGCTTTCAAGG	0.662													3	47	---	---	---	---	0	0
NLRP1	22861	broad.mit.edu	37	17	5418327	5418327	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:5418327A>G	ENST00000345221.3	-	16	4591	c.4037T>C	c.(4036-4038)aTa>aCa	p.I1346T	NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000577119.1_Missense_Mutation_p.I1316T|NLRP1_ENST00000572272.1_Missense_Mutation_p.I1390T|NLRP1_ENST00000269280.4_Missense_Mutation_p.I1346T|NLRP1_ENST00000354411.3_Missense_Mutation_p.I1360T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1390					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.I1390T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CACTCGGGCTATCAGCTGCTC	0.582													3	93	---	---	---	---	0	0
RAB34	83871	broad.mit.edu	37	17	27042839	27042839	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:27042839C>T	ENST00000395245.3	-	4	919	c.293G>A	c.(292-294)gGc>gAc	p.G98D	RAB34_ENST00000447716.1_Missense_Mutation_p.G155D|RAB34_ENST00000415040.2_Missense_Mutation_p.G76D|RAB34_ENST00000450529.1_Missense_Mutation_p.G98D|RAB34_ENST00000301043.6_Missense_Mutation_p.G98D|RAB34_ENST00000453384.3_Missense_Mutation_p.G156D|RAB34_ENST00000436730.3_Missense_Mutation_p.G98D|RAB34_ENST00000395243.3_Missense_Mutation_p.G98D|RAB34_ENST00000395242.2_Missense_Mutation_p.G99D	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	98					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					GAAGGGAATGCCCAGCACCTC	0.517													4	315	---	---	---	---	0	0
KRT25	147183	broad.mit.edu	37	17	38911399	38911399	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:38911399C>A	ENST00000312150.4	-	1	185	c.125G>T	c.(124-126)gGa>gTa	p.G42V		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	42	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity	p.G42V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GAAGCCACTTCCAATCCCTGA	0.557													5	67	---	---	---	---	0	0
HID1	283987	broad.mit.edu	37	17	72949181	72949181	+	Splice_Site	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:72949181C>A	ENST00000425042.2	-	16	2049	c.1972G>T	c.(1972-1974)Gag>Tag	p.E658*		NM_030630.2	NP_085133.1			HID1 domain containing									p.E658*(1)									TGGCTGGGCTCCTGGCCCCCA	0.672													3	13	---	---	---	---	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14757889	14757889	+	Silent	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:14757889C>G	ENST00000358984.4	+	5	873	c.693C>G	c.(691-693)gtC>gtG	p.V231V	ANKRD30B_ENST00000447268.2_Silent_p.V231V|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	231								p.V231V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATGTTGACGTCTTTGCTGAAG	0.378													3	65	---	---	---	---	0	0
TTC39C	125488	broad.mit.edu	37	18	21663014	21663014	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:21663014T>C	ENST00000317571.3	+	6	1189	c.953T>C	c.(952-954)aTg>aCg	p.M318T	TTC39C_ENST00000304621.6_Missense_Mutation_p.M257T|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	318							binding	p.M257T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TCCCTCTTTATGTTTTTCAAG	0.398													71	47	---	---	---	---	0	0
LILRB5	0	broad.mit.edu	37	19	54760066	54760066	+	Silent	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr19:54760066G>T	ENST00000450632.1	-	4	545	c.468C>A	c.(466-468)acC>acA	p.T156T	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Silent_p.T165T|LILRB5_ENST00000449561.2_Silent_p.T165T			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	165	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.T165T(1)|p.T156T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGAGTACAGGGTCCTGGGGA	0.557													57	105	---	---	---	---	0	0
MMP24	10893	broad.mit.edu	37	20	33839802	33839802	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr20:33839802A>G	ENST00000246186.6	+	3	575	c.490A>G	c.(490-492)Agg>Ggg	p.R164G	MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	164					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R164G(1)		NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACAGAAGTGGAGGCAAAAACA	0.552													4	121	---	---	---	---	0	0
SHROOM2	357	broad.mit.edu	37	X	9912815	9912815	+	Silent	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:9912815C>T	ENST00000380913.3	+	9	4536	c.4446C>T	c.(4444-4446)ccC>ccT	p.P1482P	SHROOM2_ENST00000418909.2_Silent_p.P317P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1482	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	p.P1482P(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TCTGCAAGCCCAGCGAGTTTG	0.647													3	42	---	---	---	---	0	0
ZMYM3	9203	broad.mit.edu	37	X	70471027	70471027	+	Splice_Site	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:70471027C>A	ENST00000373998.1	-	4	1476		c.e4+1		ZMYM3_ENST00000373978.1_Splice_Site|ZMYM3_ENST00000489332.1_Splice_Site|ZMYM3_ENST00000373981.1_Splice_Site|ZMYM3_ENST00000373982.1_Splice_Site|ZMYM3_ENST00000314425.5_Splice_Site|ZMYM3_ENST00000373988.1_Splice_Site|ZMYM3_ENST00000373984.3_Splice_Site|ZMYM3_ENST00000353904.2_Splice_Site	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3						multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATCCTACTTACTGCTCTCAGT	0.532													65	15	---	---	---	---	0	0
OGT	8473	broad.mit.edu	37	X	70767813	70767813	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:70767813T>G	ENST00000373719.3	+	5	805	c.588T>G	c.(586-588)aaT>aaG	p.N196K	OGT_ENST00000373701.3_Missense_Mutation_p.N186K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	196					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.N196K(1)|p.N186K(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGGAGTAATCTTGGCTGTG	0.378													9	189	---	---	---	---	0	0
MT-ND5	4540	broad.mit.edu	37	M	12957	12957	+	Silent	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrM:12957T>C	ENST00000361567.2	+	1	621	c.621T>C	c.(619-621)aaT>aaC	p.N207N				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	207					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CTAAACGCTAATCCAAGCCTC	0.522													12	1	---	---	---	---	0	0
CRB1	23418	broad.mit.edu	37	1	197313415	197313415	+	Silent	SNP	A	A	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:197313415A>G	ENST00000367400.3	+	3	792	c.657A>G	c.(655-657)gtA>gtG	p.V219V	CRB1_ENST00000535699.1_Silent_p.V150V|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Silent_p.V219V|CRB1_ENST00000543483.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	219	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.V219V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAAAGGTGTAAACTGTGAAT	0.398													6	397	---	---	---	---	0	0
BCL11A	53335	broad.mit.edu	37	2	60773250	60773250	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:60773250C>T	ENST00000335712.6	-	2	468	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	BCL11A_ENST00000538214.1_Missense_Mutation_p.V81M|BCL11A_ENST00000537768.1_De_novo_Start_InFrame|BCL11A_ENST00000356842.4_Missense_Mutation_p.V81M|BCL11A_ENST00000358510.4_Missense_Mutation_p.V81M|BCL11A_ENST00000359629.5_Missense_Mutation_p.V81M	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	81	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.V81M(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGCTTATCCACAGCTTTTTCT	0.483			T	IGH@	B-CLL								5	133	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	141473639	141473639	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:141473639A>C	ENST00000389484.3	-	37	6897	c.5926T>G	c.(5926-5928)Tta>Gta	p.L1976V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1976					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L1976V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTCAATTAAGTTGAAACCA	0.343										TSP Lung(27;0.18)			92	216	---	---	---	---	0	0
CUL3	8452	broad.mit.edu	37	2	225379456	225379456	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:225379456T>C	ENST00000264414.4	-	4	750	c.412A>G	c.(412-414)Aac>Gac	p.N138D	CUL3_ENST00000344951.4_Missense_Mutation_p.N72D|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409096.1_Missense_Mutation_p.N114D|CUL3_ENST00000409777.1_Missense_Mutation_p.N114D	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	138					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	p.N138D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTGTAGACGTTCTCCACATTA	0.338													27	79	---	---	---	---	0	0
DOCK3	1795	broad.mit.edu	37	3	51101984	51101984	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51101984G>A	ENST00000266037.9	+	6	444	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	141						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.E130K(1)|p.E141K(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCAGGTGCGGGAGGTTAAGCG	0.453													28	120	---	---	---	---	0	0
DOCK3	1795	broad.mit.edu	37	3	51101986	51101986	+	Silent	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51101986G>A	ENST00000266037.9	+	6	446	c.423G>A	c.(421-423)gaG>gaA	p.E141E		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	141						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.E141E(2)|p.E130E(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTGCGGGAGGTTAAGCGGC	0.453													27	122	---	---	---	---	0	0
DOCK3	1795	broad.mit.edu	37	3	51102013	51102013	+	Silent	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51102013G>A	ENST00000266037.9	+	6	473	c.450G>A	c.(448-450)ctG>ctA	p.L150L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	150						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.L150L(2)|p.L139L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCGTGCGCCTGGACTGGGGTA	0.463													26	123	---	---	---	---	0	0
RYBP	23429	broad.mit.edu	37	3	72428496	72428496	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:72428496T>C	ENST00000477973.2	-	2	505	c.506A>G	c.(505-507)gAa>gGa	p.E169G		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein		Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.K169R(2)		prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		ACTTTCTCCTTCTTCTCCTTT	0.408													65	193	---	---	---	---	0	0
CDKL3	51265	broad.mit.edu	37	5	133634385	133634385	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:133634385C>T	ENST00000265334.4	-	13	1854	c.1736G>A	c.(1735-1737)tGc>tAc	p.C579Y	CDKL3_ENST00000536186.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000523054.1_3'UTR	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	579						cytoplasm	ATP binding|cyclin-dependent protein kinase activity	p.C579Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCCCCTCGCAATGGCCATC	0.348													37	125	---	---	---	---	0	0
PSD2	84249	broad.mit.edu	37	5	139189047	139189047	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:139189047T>C	ENST00000274710.3	+	2	227	c.22T>C	c.(22-24)Tct>Cct	p.S8P		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	8					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.S8P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTCTTATCTGCAGTGCC	0.627													3	21	---	---	---	---	0	0
ATP10B	23120	broad.mit.edu	37	5	159992774	159992774	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:159992774C>G	ENST00000327245.5	-	26	4918	c.4072G>C	c.(4072-4074)Gtc>Ctc	p.V1358L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1358					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V1358L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTCGGGGACAGGGGCAGGC	0.517													58	234	---	---	---	---	0	0
ZAN	7455	broad.mit.edu	37	7	100345786	100345786	+	RNA	SNP	G	G	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr7:100345786G>T	ENST00000542585.1	+	0	1198				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.K350N(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTTTTGGAAAGACCCCAGAGC	0.597													12	59	---	---	---	---	0	0
KDM4C	23081	broad.mit.edu	37	9	7169914	7169914	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:7169914G>C	ENST00000381306.3	+	21	3583	c.3018G>C	c.(3016-3018)ttG>ttC	p.L1006F	KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Intron|KDM4C_ENST00000381309.3_Intron	NM_001146694.1	NP_001140166.1	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	0					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.L1006F(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GATGCCACTTGGGGACCTGCC	0.448													12	53	---	---	---	---	0	0
IKBKAP	8518	broad.mit.edu	37	9	111662626	111662626	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:111662626C>T	ENST00000374647.5	-	19	2351	c.2044G>A	c.(2044-2046)Gtg>Atg	p.V682M	IKBKAP_ENST00000537196.1_Missense_Mutation_p.V333M	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	682					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	p.V682M(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCATGGGACACATGATTGCTG	0.458													22	108	---	---	---	---	0	0
WDR38	401551	broad.mit.edu	37	9	127618187	127618187	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:127618187C>A	ENST00000373574.1	+	4	411	c.355C>A	c.(355-357)Cag>Aag	p.Q119K		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	119								p.Q119K(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGACTCGAGACAGCTGGCATC	0.622											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	139	---	---	---	---	0	0
NCAM1	4684	broad.mit.edu	37	11	113105824	113105824	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:113105824C>T	ENST00000316851.7	+	13	1733	c.1733C>T	c.(1732-1734)gCg>gTg	p.A578V	NCAM1_ENST00000533760.1_Missense_Mutation_p.A460V|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A587V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	588	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.A587V(2)|p.A578V(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGCTGGCGGCGCTCAATGGC	0.587													9	15	---	---	---	---	0	0
KMT2A	4297	broad.mit.edu	37	11	118343971	118343971	+	Silent	SNP	T	T	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:118343971T>C	ENST00000534358.1	+	3	2120	c.2097T>C	c.(2095-2097)gcT>gcC	p.A699A	KMT2A_ENST00000354520.4_Silent_p.A699A|KMT2A_ENST00000389506.5_Silent_p.A699A	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.A699A(2)									TTCTGAGAGCTCCAAGATTTA	0.453													33	124	---	---	---	---	0	0
OR10G9	219870	broad.mit.edu	37	11	123893785	123893785	+	Silent	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:123893785C>T	ENST00000375024.1	+	1	66	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D22D(2)|p.D22E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGGGCTGGACGCCCCACTCT	0.587													18	416	---	---	---	---	0	0
OR10G7	390265	broad.mit.edu	37	11	123909643	123909643	+	Silent	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:123909643G>A	ENST00000330487.5	-	1	74	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D22D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGAGGGGGGCGTCCAGCCCTG	0.562													12	129	---	---	---	---	0	0
BARX2	8538	broad.mit.edu	37	11	129312807	129312807	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:129312807A>G	ENST00000281437.4	+	3	662	c.566A>G	c.(565-567)aAg>aGg	p.K189R	BARX2_ENST00000526127.1_Missense_Mutation_p.K44R|BARX2_ENST00000531946.1_Missense_Mutation_p.K67R	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	189								p.K189R(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ATGAAATGGAAGAAAATGGTA	0.498													7	125	---	---	---	---	0	0
SPIC	121599	broad.mit.edu	37	12	101876611	101876611	+	Silent	SNP	A	A	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:101876611A>G	ENST00000551346.1	+	5	411	c.252A>G	c.(250-252)caA>caG	p.Q84Q	SPIC_ENST00000299272.5_Silent_p.Q84Q			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q84Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ATATTCATCAATCTCTGCAGA	0.403													131	332	---	---	---	---	0	0
FERMT2	10979	broad.mit.edu	37	14	53385917	53385917	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr14:53385917G>T	ENST00000395631.2	-	3	531	c.315C>A	c.(313-315)aaC>aaA	p.N105K	FERMT2_ENST00000341590.3_Missense_Mutation_p.N105K|FERMT2_ENST00000343279.4_Missense_Mutation_p.N105K|FERMT2_ENST00000553373.1_Missense_Mutation_p.N105K|FERMT2_ENST00000399304.3_Missense_Mutation_p.N105K			Q96AC1	FERM2_HUMAN	fermitin family member 2	105					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	p.N105K(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CATACTTCATGTTGGGAAGCT	0.398													6	288	---	---	---	---	0	0
HYPK	25764	broad.mit.edu	37	15	44094002	44094002	+	Nonstop_Mutation	SNP	T	T	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr15:44094002T>G	ENST00000406925.1	+	5	4499	c.388T>G	c.(388-390)Tga>Gga	p.*130G	SERF2_ENST00000594896.1_Nonstop_Mutation_p.*176G|HYPK_ENST00000442995.2_Nonstop_Mutation_p.*130G|HYPK_ENST00000458412.1_3'UTR|SERF2_ENST00000600633.1_Nonstop_Mutation_p.*130G					huntingtin interacting protein K														all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		CCTAACCAACTGATGCGTGCT	0.413													31	92	---	---	---	---	0	0
ZSCAN32	54925	broad.mit.edu	37	16	3440104	3440104	+	Silent	SNP	T	T	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr16:3440104T>A	ENST00000396852.4	-	5	964	c.657A>T	c.(655-657)gtA>gtT	p.V219V	ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000573830.1_Intron|ZSCAN32_ENST00000422427.2_Silent_p.V7V|ZSCAN32_ENST00000574940.1_Silent_p.V219V|ZSCAN32_ENST00000396846.3_Silent_p.V219V|ZSCAN32_ENST00000304926.3_Silent_p.V7V	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1			zinc finger and SCAN domain containing 32									p.V7V(1)									GACAGAGGGATACAGCTCTGT	0.582													13	39	---	---	---	---	0	0
ZNF521	25925	broad.mit.edu	37	18	22804338	22804338	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr18:22804338G>A	ENST00000361524.3	-	4	3692	c.3544C>T	c.(3544-3546)Ccc>Tcc	p.P1182S	ZNF521_ENST00000584787.1_Missense_Mutation_p.P962S|ZNF521_ENST00000538137.2_Missense_Mutation_p.P1182S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1182					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGATTCTGGGCATTGGTGAT	0.478			T	PAX5	ALL								4	191	---	---	---	---	0	0
CATSPERD	257062	broad.mit.edu	37	19	5768180	5768180	+	Splice_Site	SNP	A	A	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:5768180A>C	ENST00000381624.3	+	18	1622	c.1561A>C	c.(1561-1563)Aaa>Caa	p.K521Q	CATSPERD_ENST00000381614.2_Splice_Site_p.K179Q|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	521						integral to membrane		p.K521Q(1)									TGCTTGCAGCAAAGTTTCCGC	0.537													39	104	---	---	---	---	0	0
LDLR	3949	broad.mit.edu	37	19	11227612	11227612	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:11227612C>T	ENST00000558518.1	+	12	1970	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	LDLR_ENST00000545707.1_Missense_Mutation_p.R468W|LDLR_ENST00000535915.1_Missense_Mutation_p.R554W|LDLR_ENST00000557933.1_Missense_Mutation_p.R595W|LDLR_ENST00000558013.1_Missense_Mutation_p.R595W|LDLR_ENST00000455727.2_Missense_Mutation_p.R427W	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	595					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.R595W(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGGGGGCAACCGGAAGACCAT	0.542													73	342	---	---	---	---	0	0
JAK3	3718	broad.mit.edu	37	19	17950419	17950419	+	Silent	SNP	T	T	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:17950419T>A	ENST00000458235.1	-	10	1407	c.1308A>T	c.(1306-1308)ggA>ggT	p.G436G	JAK3_ENST00000534444.1_Silent_p.G436G|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.G436G	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	436	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G436G(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GAAGGAAGGTTCCTGTGGGGC	0.612		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	30	---	---	---	---	0	0
TSKS	60385	broad.mit.edu	37	19	50248602	50248602	+	Silent	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:50248602C>T	ENST00000246801.3	-	7	1126	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	TSKS_ENST00000358830.3_Silent_p.V148V	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	348							protein binding	p.V348V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGGCTTCCTGCACCGCCCCCT	0.706													3	8	---	---	---	---	0	0
SNX12	29934	broad.mit.edu	37	X	70280884	70280884	+	Silent	SNP	C	C	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chrX:70280884C>A	ENST00000374274.3	-	4	587	c.471G>T	c.(469-471)ccG>ccT	p.P157P	SNX12_ENST00000465030.1_5'UTR|SNX12_ENST00000276105.3_Silent_p.P153P	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	157					cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding	p.P157P(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GCACCTTCCCCGGGACGTAGT	0.512													3	22	---	---	---	---	0	0
MT-CO1	4512	broad.mit.edu	37	M	7026	7026	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chrM:7026G>A	ENST00000361624.2	+	1	1123	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ACTACGTTGTAGCTCACTTCC	0.448													4	2	---	---	---	---	0	0
CROCCP2	0	broad.mit.edu	37	1	16946368	16946368	+	RNA	SNP	A	A	G			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:16946368A>G	ENST00000412962.1	-	0	1151																											GGCCAGGAGGAGGCCCTCGTC	0.667													2	16	---	---	---	---	0	0
ZNF683	257101	broad.mit.edu	37	1	26691329	26691329	+	Silent	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:26691329C>A	ENST00000436292.1	-	4	828	c.708G>T	c.(706-708)ctG>ctT	p.L236L	ZNF683_ENST00000374204.1_Silent_p.L236L|ZNF683_ENST00000349618.3_Silent_p.L236L|ZNF683_ENST00000403843.1_Silent_p.L236L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L236L(1)|p.L221L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCATCATCAGCAGGCTAGGCA	0.632													13	119	---	---	---	---	0	0
CYR61	3491	broad.mit.edu	37	1	86048170	86048170	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:86048170T>C	ENST00000451137.2	+	4	930	c.706T>C	c.(706-708)Tgg>Cgg	p.W236R		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	236	TSP type-1.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	p.W236R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AACAACTTCATGGTCCCAGTG	0.458											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	110	---	---	---	---	0	0
PDK1	5163	broad.mit.edu	37	2	173457705	173457705	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr2:173457705C>A	ENST00000282077.3	+	10	1281	c.1099C>A	c.(1099-1101)Caa>Aaa	p.Q367K	PDK1_ENST00000543905.1_Missense_Mutation_p.Q291K|PDK1_ENST00000392571.2_Missense_Mutation_p.Q387K|PDK1_ENST00000544863.1_Missense_Mutation_p.Q212K|PDK1_ENST00000410055.1_Missense_Mutation_p.Q367K			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1		Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.Q367K(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TCTTTACGCACAATACTTCCA	0.378									Autosomal Dominant Polycystic Kidney Disease				4	160	---	---	---	---	0	0
CHPF	79586	broad.mit.edu	37	2	220406592	220406592	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr2:220406592G>T	ENST00000243776.6	-	2	882	c.634C>A	c.(634-636)Cta>Ata	p.L212I	CHPF_ENST00000373891.2_Missense_Mutation_p.L212I|CHPF_ENST00000535926.1_Missense_Mutation_p.L50I	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	212						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	p.L212I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGCCAGTTAGGCGTGCCAGG	0.706											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	30	---	---	---	---	0	0
PHF15	0	broad.mit.edu	37	5	133914476	133914476	+	Silent	SNP	G	G	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr5:133914476G>A	ENST00000395003.1	+	11	2021	c.1842G>A	c.(1840-1842)ggG>ggA	p.G614G	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.G615G|PHF15_ENST00000282605.4_Silent_p.G658G	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		614	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.G614G(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCAGGACGGGCCTGGTTCAC	0.672													5	48	---	---	---	---	0	0
DPYSL2	1808	broad.mit.edu	37	8	26484737	26484737	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr8:26484737G>A	ENST00000311151.5	+	6	959	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	DPYSL2_ENST00000521913.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000523027.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000521983.1_3'UTR	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	183					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	p.E183K(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TCAGATTTATGAAGTACTGAG	0.483													14	55	---	---	---	---	0	0
YME1L1	10730	broad.mit.edu	37	10	27436415	27436415	+	Silent	SNP	C	C	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr10:27436415C>T	ENST00000477432.1	-	3	1406	c.351G>A	c.(349-351)ggG>ggA	p.G117G	YME1L1_ENST00000326799.3_Intron|YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron			Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	0					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTTGGAGAAACCCGCAGTGTA	0.468													3	69	---	---	---	---	0	0
CNGA4	1262	broad.mit.edu	37	11	6261464	6261464	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr11:6261464C>T	ENST00000379936.2	+	4	555	c.440C>T	c.(439-441)gCg>gTg	p.A147V	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	147					response to stimulus|sensory perception of smell		cAMP binding	p.A147V(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCCGCGCGCCCCGCCTC	0.587													5	205	---	---	---	---	0	0
SLC2A14	144195	broad.mit.edu	37	12	7982567	7982567	+	Missense_Mutation	SNP	G	G	A	rs145793375	byFrequency	TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:7982567G>A	ENST00000543909.1	-	10	1136	c.377C>T	c.(376-378)gCc>gTc	p.A126V	SLC2A14_ENST00000539924.1_Missense_Mutation_p.A141V|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A103V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A103V|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A126V			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	126					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.A126V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCCACCAGTGGCAGCCAACAG	0.478													3	69	---	---	---	---	0	0
POC1B-GALNT4	0	broad.mit.edu	37	12	89917323	89917323	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:89917323C>G	ENST00000548729.1	-	3	1297	c.995G>C	c.(994-996)gGa>gCa	p.G332A	POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.G335A|GALNT4_ENST00000413530.1_Missense_Mutation_p.G163A|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1												p.G335A(1)									GTTTTCACCTCCCCACACTTC	0.522													42	257	---	---	---	---	0	0
NOX5	79400	broad.mit.edu	37	15	69348910	69348910	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr15:69348910C>A	ENST00000260364.5	+	17	2419	c.2118C>A	c.(2116-2118)ttC>ttA	p.F706L	NOX5_ENST00000530406.2_Missense_Mutation_p.F696L|NOX5_ENST00000388866.3_Missense_Mutation_p.F724L|NOX5_ENST00000455873.3_Missense_Mutation_p.F689L|NOX5_ENST00000448182.3_Missense_Mutation_p.F678L			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	724					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.F706L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TCCAGGTGTTCCAGAAAGTGG	0.557													26	145	---	---	---	---	0	0
HRC	3270	broad.mit.edu	37	19	49656664	49656664	+	Splice_Site	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr19:49656664C>A	ENST00000252825.4	-	1	2017	c.1831G>T	c.(1831-1833)Ggt>Tgt	p.G611C	HRC_ENST00000595625.1_Splice_Site_p.G611C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	611					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.G611C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCCACTTACCTGTGTCCTCA	0.632													3	72	---	---	---	---	0	0
NCAM2	4685	broad.mit.edu	37	21	22849736	22849736	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr21:22849736A>G	ENST00000400546.1	+	15	2270	c.2021A>G	c.(2020-2022)tAt>tGt	p.Y674C	NCAM2_ENST00000284894.7_Missense_Mutation_p.Y532C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	674	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.Y674C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGATTGGGATATTCTGAACCG	0.368													21	129	---	---	---	---	0	0
DEPDC1	55635	broad.mit.edu	37	1	68948183	68948183	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:68948183C>G	ENST00000456315.2	-	8	1422	c.1308G>C	c.(1306-1308)gaG>gaC	p.E436D	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	436					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.E436D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACTGGATGCCTCTTTACTTG	0.373													9	227	---	---	---	---	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38818746	38818746	+	Silent	SNP	G	G	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr2:38818746G>C	ENST00000449105.3	-	2	573	c.234C>G	c.(232-234)gtC>gtG	p.V78V	HNRNPLL_ENST00000410076.1_Silent_p.V73V|HNRNPLL_ENST00000498516.1_5'UTR|HNRNPLL_ENST00000409328.1_Silent_p.V78V|HNRNPLL_ENST00000409636.1_Silent_p.V73V|HNRNPLL_ENST00000608859.1_Silent_p.V78V|HNRNPLL_ENST00000378915.3_Silent_p.V78V|HNRNPLL_ENST00000358367.4_Silent_p.V78V					heterogeneous nuclear ribonucleoprotein L-like									p.V78V(1)|p.V73V(1)									CTCGAACATGGACGACGGGTG	0.433													17	123	---	---	---	---	0	0
TMEFF2	23671	broad.mit.edu	37	2	193056699	193056699	+	Silent	SNP	T	T	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr2:193056699T>C	ENST00000409056.3	-	2	188	c.189A>G	c.(187-189)gaA>gaG	p.E63E	TMEFF2_ENST00000392314.1_Silent_p.E63E|TMEFF2_ENST00000272771.5_Silent_p.E63E			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	63				E -> G (in Ref. 6; BAC11030).		extracellular region|integral to membrane		p.E63E(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AGAGATCATTTTCTCTGTCAT	0.348													7	58	---	---	---	---	0	0
C3orf38	285237	broad.mit.edu	37	3	88202584	88202584	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr3:88202584C>T	ENST00000318887.3	+	2	648	c.338C>T	c.(337-339)cCa>cTa	p.P113L	C3orf38_ENST00000486971.1_Missense_Mutation_p.P113L	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	113					apoptosis			p.P111L(1)|p.P113L(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ACGCCAGAGCCAGTTACAAAG	0.368													5	71	---	---	---	---	0	0
SH3TC1	54436	broad.mit.edu	37	4	8235132	8235132	+	Silent	SNP	G	G	A			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:8235132G>A	ENST00000539824.1	+	14	3320	c.2946G>A	c.(2944-2946)ggG>ggA	p.G982G	SH3TC1_ENST00000245105.3_Silent_p.G1058G			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1058							binding	p.G1058G(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAAGTCTGGGGATTTTCATTG	0.537													6	34	---	---	---	---	0	0
TRMT44	152992	broad.mit.edu	37	4	8467202	8467202	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:8467202G>C	ENST00000389737.4	+	8	1408	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	TRMT44_ENST00000513449.2_Missense_Mutation_p.E229Q	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)									p.E470Q(1)|p.E78Q(1)									TCAGTACCGGGAATACCTTGA	0.473													5	126	---	---	---	---	0	0
CWH43	80157	broad.mit.edu	37	4	48994016	48994016	+	Silent	SNP	T	T	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:48994016T>C	ENST00000226432.4	+	4	603	c.420T>C	c.(418-420)taT>taC	p.Y140Y	CWH43_ENST00000513409.1_Silent_p.Y113Y	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	140					GPI anchor biosynthetic process	integral to membrane		p.Y140Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCATATGGTATACTTCACTAA	0.368													13	111	---	---	---	---	0	0
PCDH18	54510	broad.mit.edu	37	4	138451489	138451489	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:138451489G>A	ENST00000344876.4	-	1	2140	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	PCDH18_ENST00000507846.1_Missense_Mutation_p.T365M|PCDH18_ENST00000412923.2_Missense_Mutation_p.T585M|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	585	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T585M(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GATTTCTGCCGTATTATTACG	0.468													9	425	---	---	---	---	0	0
SNX18	112574	broad.mit.edu	37	5	53814839	53814839	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr5:53814839A>T	ENST00000343017.6	+	1	1251	c.1057A>T	c.(1057-1059)Agg>Tgg	p.R353W	SNX18_ENST00000326277.3_Missense_Mutation_p.R353W|SNX18_ENST00000381410.4_Missense_Mutation_p.R353W	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	353	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	p.R353W(3)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CTCTAAGCGCAGGAAGGGCCT	0.652													7	64	---	---	---	---	0	0
TTC37	9652	broad.mit.edu	37	5	94857934	94857934	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr5:94857934C>G	ENST00000358746.2	-	19	2133	c.1835G>C	c.(1834-1836)gGa>gCa	p.G612A		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	612							binding	p.G612A(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGTGTAGCCTCCTCTGCTTAA	0.413													19	137	---	---	---	---	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682861	140682861	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr5:140682861T>C	ENST00000239451.4	-	1	751	c.572A>G	c.(571-573)tAt>tGt	p.Y191C		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	191					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.Y191C(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GCTCAGTTCATAGCCACCAAA	0.458													12	122	---	---	---	---	0	0
EYS	346007	broad.mit.edu	37	6	66205253	66205253	+	Silent	SNP	A	A	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr6:66205253A>T	ENST00000503581.1	-	4	588	c.51T>A	c.(49-51)tcT>tcA	p.S17S	EYS_ENST00000370616.2_Silent_p.S17S|EYS_ENST00000370621.3_Silent_p.S17S|EYS_ENST00000393380.2_Silent_p.S17S|EYS_ENST00000342421.5_Silent_p.S17S|EYS_ENST00000370618.3_Silent_p.S17S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	17					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATTTATGAAAGAGCTGTGAA	0.378													16	95	---	---	---	---	0	0
HTR1E	3354	broad.mit.edu	37	6	87725481	87725481	+	Silent	SNP	C	C	A			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr6:87725481C>A	ENST00000305344.5	+	2	1132	c.429C>A	c.(427-429)atC>atA	p.I143I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled						G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.I143I(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CGCTGATGATCCTTACCGTCT	0.582													12	83	---	---	---	---	0	0
SCARA5	286133	broad.mit.edu	37	8	27762295	27762295	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr8:27762295T>G	ENST00000524352.1	-	7	1535	c.1153A>C	c.(1153-1155)Agt>Cgt	p.S385R	SCARA5_ENST00000301906.4_Missense_Mutation_p.S342R|SCARA5_ENST00000354914.3_Splice_Site_p.S385R|SCARA5_ENST00000380385.2_Splice_Site_p.S160R|SCARA5_ENST00000518030.1_Missense_Mutation_p.S342R|RP11-597M17.1_ENST00000517735.1_RNA			Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	385					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	p.S385R(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ATGTCCTTACTGGCATCCCCA	0.532													6	51	---	---	---	---	0	0
RNLS	55328	broad.mit.edu	37	10	90342915	90342915	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr10:90342915C>T	ENST00000371947.3	-	1	1372	c.33G>A	c.(31-33)atG>atA	p.M11I	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Missense_Mutation_p.M11I|RNLS_ENST00000437752.1_Missense_Mutation_p.M11I	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	11						extracellular region	oxidoreductase activity	p.M11I(1)		breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGCTTCCTGTCATCCCGGCGC	0.647											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	75	---	---	---	---	0	0
NUP98	4928	broad.mit.edu	37	11	3721914	3721914	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:3721914T>C	ENST00000324932.7	-	24	4088	c.3668A>G	c.(3667-3669)aAt>aGt	p.N1223S	NUP98_ENST00000359171.4_Missense_Mutation_p.N1223S|NUP98_ENST00000355260.3_Missense_Mutation_p.N1223S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1240					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	p.N1223S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACTCCCAGATTGGGGACAAT	0.418			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								5	94	---	---	---	---	0	0
NAV2	89797	broad.mit.edu	37	11	19955124	19955124	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:19955124C>G	ENST00000396085.1	+	7	1695	c.1334C>G	c.(1333-1335)gCc>gGc	p.A445G	NAV2_ENST00000360655.4_Missense_Mutation_p.A381G|NAV2_ENST00000540292.1_Missense_Mutation_p.A399G|NAV2_ENST00000349880.4_Missense_Mutation_p.A445G|NAV2_ENST00000527559.2_Missense_Mutation_p.A397G|NAV2_ENST00000396087.3_Missense_Mutation_p.A468G	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	468						nucleus	ATP binding|helicase activity	p.A468G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTGGAGGCCGCCAGTCGCATG	0.647													4	60	---	---	---	---	0	0
NPAT	4863	broad.mit.edu	37	11	108032027	108032027	+	Silent	SNP	A	A	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:108032027A>G	ENST00000278612.8	-	17	3891	c.3786T>C	c.(3784-3786)agT>agC	p.S1262S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1262					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.S1262S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTAAATCACTACTATCAGCAA	0.438													6	234	---	---	---	---	0	0
C1S	716	broad.mit.edu	37	12	7177943	7177943	+	Silent	SNP	C	C	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr12:7177943C>T	ENST00000406697.1	+	15	2683	c.2055C>T	c.(2053-2055)ccC>ccT	p.P685P	C1S_ENST00000402681.3_Silent_p.P518P|C1S_ENST00000360817.5_Silent_p.P685P|C1S_ENST00000328916.3_Silent_p.P685P			P09871	C1S_HUMAN	complement component 1, s subcomponent	685					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.P685P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATAGCACCCCCCGTGAGGACT	0.483													15	127	---	---	---	---	0	0
FREM2	341640	broad.mit.edu	37	13	39262558	39262558	+	Silent	SNP	T	T	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr13:39262558T>C	ENST00000280481.7	+	1	1293	c.1077T>C	c.(1075-1077)ctT>ctC	p.L359L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	359					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.L359L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTTCAACCTTACTTCTCCAT	0.572													5	79	---	---	---	---	0	0
GPR183	1880	broad.mit.edu	37	13	99948335	99948335	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr13:99948335T>G	ENST00000376414.4	-	2	148	c.65A>C	c.(64-66)gAc>gCc	p.D22A	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	22					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.D22A(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TGCATAGAGGTCACAGTCATT	0.478													7	96	---	---	---	---	0	0
PROZ	8858	broad.mit.edu	37	13	113825982	113825982	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr13:113825982G>A	ENST00000342783.4	+	9	839	c.832G>A	c.(832-834)Gac>Aac	p.D278N	PROZ_ENST00000375547.2_Missense_Mutation_p.D256N	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	256	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	p.D256N(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GTATGACGCGGACGCGGGGGA	0.562													9	129	---	---	---	---	0	0
DHRS7	51635	broad.mit.edu	37	14	60619800	60619800	+	Missense_Mutation	SNP	A	A	C	rs111656127		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr14:60619800A>C	ENST00000216500.5	-	5	945	c.490T>G	c.(490-492)Tta>Gta	p.L164V	DHRS7_ENST00000553986.1_5'UTR|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.L114V|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.L164V			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	164							binding|oxidoreductase activity	p.L164V(1)		endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		ACCGTCCCTAAGTAGTTAAGC	0.443													16	174	---	---	---	---	0	0
IGHV1OR15-9	0	broad.mit.edu	37	15	20170343	20170343	+	RNA	SNP	A	A	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr15:20170343A>G	ENST00000338912.5	-	0	11																											GGATCCTCCAAGTCCAGCCCA	0.522													6	195	---	---	---	---	0	0
ETFA	2108	broad.mit.edu	37	15	76584842	76584842	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr15:76584842G>A	ENST00000557943.1	-	4	361	c.281C>T	c.(280-282)cCa>cTa	p.P94L	ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000559602.1_Intron|ETFA_ENST00000433983.2_Missense_Mutation_p.P45L	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	94					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.P94L(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CAAAATCAATGGTGTCAGTTC	0.338													7	102	---	---	---	---	0	0
ITFG3	83986	broad.mit.edu	37	16	309488	309488	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:309488A>G	ENST00000399932.3	+	4	726	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	ITFG3_ENST00000442458.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000600536.1_Missense_Mutation_p.Y92C|ITFG3_ENST00000301679.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y92C|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y92C	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	92						integral to membrane		p.Y92C(1)		central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TCAGTTATCTATGACTTTCTG	0.453													19	369	---	---	---	---	0	0
PKD1	5310	broad.mit.edu	37	16	2140788	2140788	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:2140788C>T	ENST00000262304.4	-	44	12233	c.12025G>A	c.(12025-12027)Gtg>Atg	p.V4009M	PKD1_ENST00000423118.1_Missense_Mutation_p.V4008M	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4009					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.V4009M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACTGGCGCACGAAGCGTAGC	0.672													14	78	---	---	---	---	0	0
CREBBP	1387	broad.mit.edu	37	16	3786756	3786756	+	Silent	SNP	A	A	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:3786756A>G	ENST00000262367.5	-	27	5264	c.4455T>C	c.(4453-4455)caT>caC	p.H1485H	CREBBP_ENST00000382070.3_Silent_p.H1447H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1485	Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.H1485H(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGGGTGGCAATGGAAGATGT	0.512			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						16	169	---	---	---	---	0	0
XPO6	23214	broad.mit.edu	37	16	28157508	28157508	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:28157508T>C	ENST00000304658.5	-	9	1741	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	XPO6_ENST00000565698.1_Missense_Mutation_p.Y400C	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	414					protein export from nucleus		protein binding|protein transporter activity	p.Y414C(3)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACAAGAGAAGTAACCTTCATG	0.358													5	124	---	---	---	---	0	0
CRK	1398	broad.mit.edu	37	17	1359240	1359240	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr17:1359240A>C	ENST00000300574.2	-	1	312	c.172T>G	c.(172-174)Tcc>Gcc	p.S58A	CRK_ENST00000574295.1_Missense_Mutation_p.S58A|CRK_ENST00000398970.5_Missense_Mutation_p.S58A|CRK_ENST00000572145.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	58	SH2.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	p.S58A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		ATGTAGTGGGAGACGCGCGAG	0.731													7	40	---	---	---	---	0	0
NEURL4	84461	broad.mit.edu	37	17	7221921	7221921	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr17:7221921A>G	ENST00000399464.2	-	23	3772	c.3757T>C	c.(3757-3759)Tct>Cct	p.S1253P	NEURL4_ENST00000574120.1_5'UTR|RP11-542C16.2_ENST00000575474.1_Silent_p.A66A|NEURL4_ENST00000570460.1_Missense_Mutation_p.S1229P|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1251P	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.S1253P(1)|p.S1251P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCCCCAGAGCTGTCCAGC	0.617													8	63	---	---	---	---	0	0
NLE1	54475	broad.mit.edu	37	17	33462276	33462276	+	Silent	SNP	C	C	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr17:33462276C>T	ENST00000586869.1	-	9	1349	c.330G>A	c.(328-330)agG>agA	p.R110R	NLE1_ENST00000360831.5_Silent_p.R360R|NLE1_ENST00000442241.4_Silent_p.R402R			Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	402						nucleolus		p.R402R(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				ACTTGCCCGTCCTGCCATCCC	0.567													9	80	---	---	---	---	0	0
ZNF781	163115	broad.mit.edu	37	19	38160949	38160949	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr19:38160949T>A	ENST00000358582.4	-	4	849	c.101A>T	c.(100-102)gAa>gTa	p.E34V	ZNF781_ENST00000590008.1_Missense_Mutation_p.E34V|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E34V(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TATCTGACATTCATAGGGTTT	0.383													21	290	---	---	---	---	0	0
MED12	9968	broad.mit.edu	37	X	70349258	70349258	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chrX:70349258C>T	ENST00000333646.6	+	26	3869	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000374080.3_Missense_Mutation_p.L1224F|MED12_ENST00000374102.1_Missense_Mutation_p.L1224F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	33	---	---	---	---	0	0
PLCH2	9651	broad.mit.edu	37	1	2411659	2411659	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:2411659G>T	ENST00000449969.1	+	4	633	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.G185W|PLCH2_ENST00000378488.3_Missense_Mutation_p.G185W|PLCH2_ENST00000419816.2_Missense_Mutation_p.G185W			O75038	PLCH2_HUMAN	phospholipase C, eta 2	185					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G185W(1)|p.G32W(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGACAAGAACGGGGATGGCAG	0.617													36	100	---	---	---	---	0	0
VAV3	10451	broad.mit.edu	37	1	108247662	108247662	+	Silent	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:108247662A>G	ENST00000370056.4	-	16	1798	c.1524T>C	c.(1522-1524)taT>taC	p.Y508Y	VAV3_ENST00000371846.4_Silent_p.Y443Y|VAV3_ENST00000527011.1_Silent_p.Y508Y|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	508					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.Y508Y(2)|p.Y508*(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGGAGTCTGCATAGTCTGGTC	0.403													3	133	---	---	---	---	0	0
MSH6	2956	broad.mit.edu	37	2	48026269	48026269	+	Missense_Mutation	SNP	A	A	G	rs63751304		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:48026269A>G	ENST00000234420.5	+	4	1299	c.1147A>G	c.(1147-1149)Agg>Ggg	p.R383G	MSH6_ENST00000540021.1_Missense_Mutation_p.R253G|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.R81G	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.R383G(2)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGAGCACAGGAGGAGGCC	0.478			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				47	110	---	---	---	---	0	0
PROM2	150696	broad.mit.edu	37	2	95944760	95944760	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:95944760C>A	ENST00000317620.9	+	10	1275	c.1142C>A	c.(1141-1143)cCg>cAg	p.P381Q	PROM2_ENST00000403131.2_Missense_Mutation_p.P381Q|PROM2_ENST00000542147.1_Missense_Mutation_p.P381Q|PROM2_ENST00000317668.4_Missense_Mutation_p.P381Q	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	381						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.P381Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCCCAGCAGCCGGAAGGGGTG	0.662													3	99	---	---	---	---	0	0
SSB	6741	broad.mit.edu	37	2	170663358	170663358	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:170663358G>T	ENST00000409333.1	+	5	656	c.409G>T	c.(409-411)Gta>Tta	p.V137L	SSB_ENST00000260956.4_Missense_Mutation_p.V137L			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	137	RRM.				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	p.V137L(1)		endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TAAAGGTCAAGTACTAAATAT	0.299													5	165	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179472383	179472383	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:179472383C>T	ENST00000589042.1	-	277	53256	c.53032G>A	c.(53032-53034)Gtc>Atc	p.V17678I	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8613I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V8805I|TTN_ENST00000591111.1_Missense_Mutation_p.V16037I|TTN_ENST00000342992.6_Missense_Mutation_p.V15110I|TTN_ENST00000359218.5_Missense_Mutation_p.V8738I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16037	Fibronectin type-III 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V8613I(2)|p.V15110I(2)|p.V8738I(1)|p.V8805I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCCTTGACAGAAACATCC	0.428													79	116	---	---	---	---	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170939	207170939	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:207170939C>T	ENST00000374423.3	+	5	2073	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	563							nucleic acid binding|zinc ion binding	p.R563W(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAAACTTCGGAAGAAGGC	0.438													27	47	---	---	---	---	0	0
BRPF1	7862	broad.mit.edu	37	3	9788936	9788936	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:9788936A>G	ENST00000383829.2	+	14	3970	c.3566A>G	c.(3565-3567)aAc>aGc	p.N1189S	BRPF1_ENST00000433861.2_Missense_Mutation_p.N1088S|BRPF1_ENST00000302054.3_Missense_Mutation_p.N1183S|BRPF1_ENST00000457855.1_Missense_Mutation_p.N1183S|BRPF1_ENST00000424362.1_Missense_Mutation_p.N1182S	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1183					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	p.N1189S(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGCAAGTCCAACATCCGCAAG	0.567													28	124	---	---	---	---	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908014	164908014	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:164908014T>C	ENST00000475390.1	-	2	1048	c.605A>G	c.(604-606)gAc>gGc	p.D202G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	202						integral to membrane		p.D202G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCACGTAGGTCCAAATGGGT	0.408										HNSCC(40;0.11)			56	117	---	---	---	---	0	0
P4HA2	8974	broad.mit.edu	37	5	131531126	131531126	+	Silent	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:131531126C>A	ENST00000401867.1	-	14	1987	c.1419G>T	c.(1417-1419)ggG>ggT	p.G473G	P4HA2_ENST00000379104.2_Silent_p.G473G|P4HA2_ENST00000166534.4_Silent_p.G473G|P4HA2_ENST00000379086.1_Silent_p.G471G|P4HA2_ENST00000379100.2_Silent_p.G471G|P4HA2_ENST00000360568.3_Silent_p.G471G			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	473	Fe2OG dioxygenase.					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	p.G473G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	AAATTGCAGCCCCCAGATCAG	0.493													32	79	---	---	---	---	0	0
TCOF1	6949	broad.mit.edu	37	5	149755319	149755319	+	Silent	SNP	C	C	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:149755319C>T	ENST00000451292.1	+	12	1848	c.1740C>T	c.(1738-1740)ccC>ccT	p.P580P	TCOF1_ENST00000504761.2_Silent_p.P580P|TCOF1_ENST00000445265.2_Silent_p.P503P|TCOF1_ENST00000323668.7_Silent_p.P503P|TCOF1_ENST00000513346.1_Silent_p.P580P|TCOF1_ENST00000439160.2_Silent_p.P580P|TCOF1_ENST00000394269.3_Silent_p.P580P|TCOF1_ENST00000377797.3_Silent_p.P580P			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	580					skeletal system development	nucleolus	protein binding|transporter activity	p.P580P(1)|p.P503P(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCCAAACCCACCTCCAGTC	0.587													51	146	---	---	---	---	0	0
RANBP17	64901	broad.mit.edu	37	5	170395294	170395294	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:170395294T>G	ENST00000523189.1	+	14	1787	c.1623T>G	c.(1621-1623)tgT>tgG	p.C541W		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	541					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.C541W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCGATGTTGTAATGAGAAAA	0.343			T	TRD@	ALL								17	187	---	---	---	---	0	0
GSTA2	2939	broad.mit.edu	37	6	52616466	52616466	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:52616466T>A	ENST00000493422.1	-	6	610	c.455A>T	c.(454-456)aAg>aTg	p.K152M		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	152	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.K152M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	CCGGCTCAGCTTGTTGCCAAC	0.532													63	146	---	---	---	---	0	0
PNLDC1	154197	broad.mit.edu	37	6	160237001	160237001	+	Splice_Site	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:160237001T>C	ENST00000610273.1	+	13	1134	c.963T>C	c.(961-963)agT>agC	p.S321S	PNLDC1_ENST00000392167.3_Splice_Site_p.S332S	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding	p.S321S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTTCCAATAGTGACTTGAATC	0.378													5	126	---	---	---	---	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224957	26224957	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:26224957A>T	ENST00000056233.3	+	4	1898	c.1639A>T	c.(1639-1641)Atc>Ttc	p.I547F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	547					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.I547F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGCTTTGCATATCCCTTTTTC	0.413													5	268	---	---	---	---	0	0
HIBADH	11112	broad.mit.edu	37	7	27565971	27565971	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:27565971G>A	ENST00000265395.2	-	8	1079	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	291					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.D291D(1)		endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TGGTAGCAGAGTCTTGTGCCA	0.468													13	45	---	---	---	---	0	0
ANLN	54443	broad.mit.edu	37	7	36435954	36435954	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:36435954C>G	ENST00000265748.2	+	2	319	c.98C>G	c.(97-99)tCt>tGt	p.S33C	ANLN_ENST00000396068.2_Missense_Mutation_p.S33C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	33	Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.S33C(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCTCCAAGGTCTATGACTCAT	0.473													42	77	---	---	---	---	0	0
PHTF2	57157	broad.mit.edu	37	7	77469597	77469597	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:77469597A>G	ENST00000416283.2	+	1	151	c.25A>G	c.(25-27)Ata>Gta	p.I9V	PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	p.I9V(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CACAGATGCTATAGTCTGGTA	0.318													73	125	---	---	---	---	0	0
ADAM9	8754	broad.mit.edu	37	8	38899534	38899534	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:38899534C>A	ENST00000487273.2	+	12	1278	c.1200C>A	c.(1198-1200)aaC>aaA	p.N400K		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	400	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	p.N400K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AAGGAGGAAACTGCCTTCTTA	0.408													7	121	---	---	---	---	0	0
SOX17	64321	broad.mit.edu	37	8	55371662	55371662	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:55371662G>A	ENST00000297316.4	+	2	556	c.352G>A	c.(352-354)Gtg>Atg	p.V118M		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	118					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.V118M(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GCGGCCCTTCGTGGAGGAGGC	0.687													4	7	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113657357	113657357	+	Silent	SNP	A	A	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:113657357A>T	ENST00000297405.5	-	20	3535	c.3291T>A	c.(3289-3291)gtT>gtA	p.V1097V	CSMD3_ENST00000352409.3_Silent_p.V1097V|CSMD3_ENST00000455883.2_Silent_p.V993V|CSMD3_ENST00000343508.3_Silent_p.V1057V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1097	CUB 6.					integral to membrane|plasma membrane		p.V1097V(2)|p.V1057V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTTACATCAACAGTCCATG	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	112	---	---	---	---	0	0
GOLM1	51280	broad.mit.edu	37	9	88650293	88650293	+	Silent	SNP	A	A	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:88650293A>G	ENST00000388712.3	-	8	1173	c.1005T>C	c.(1003-1005)gcT>gcC	p.A335A	GOLM1_ENST00000388711.3_Silent_p.A335A	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	335						Golgi apparatus|integral to plasma membrane		p.A335A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTTCCCCGGCAGCTTCCTGCT	0.622											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	180	---	---	---	---	0	0
KIF12	113220	broad.mit.edu	37	9	116858374	116858374	+	Silent	SNP	C	C	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:116858374C>A	ENST00000374118.3	-	6	675	c.438G>T	c.(436-438)ctG>ctT	p.L146L	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	279	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L146L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTCAAGCATCAGCTCCCCAC	0.622													33	147	---	---	---	---	0	0
FAM171A1	221061	broad.mit.edu	37	10	15317865	15317865	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:15317865G>A	ENST00000378116.4	-	3	413	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	136						integral to membrane		p.S136L(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGGAATCCTGATACTATTTG	0.343													19	92	---	---	---	---	0	0
NCOA4	8031	broad.mit.edu	37	10	51584846	51584846	+	Silent	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:51584846G>A	ENST00000452682.1	+	9	1245	c.993G>A	c.(991-993)cgG>cgA	p.R331R	NCOA4_ENST00000438493.1_Silent_p.R331R|NCOA4_ENST00000374082.1_Silent_p.R315R|NCOA4_ENST00000414907.2_Silent_p.R149R|NCOA4_ENST00000430396.2_Silent_p.R215R|NCOA4_ENST00000344348.6_Silent_p.R315R|NCOA4_ENST00000374087.4_Silent_p.R315R|NCOA4_ENST00000443446.1_Silent_p.R315R	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	315					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.R331R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						ATAAGCTGCGGAAGCCTGAGA	0.453			T	RET	papillary thyroid								6	164	---	---	---	---	0	0
FGD4	121512	broad.mit.edu	37	12	32764089	32764089	+	Silent	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:32764089T>C	ENST00000427716.2	+	10	1634	c.1210T>C	c.(1210-1212)Tta>Cta	p.L404L	FGD4_ENST00000266482.3_Silent_p.L156L|FGD4_ENST00000525053.1_Silent_p.L516L|FGD4_ENST00000381025.3_Silent_p.L156L|FGD4_ENST00000531134.1_Silent_p.L489L|FGD4_ENST00000546442.1_Silent_p.L311L|FGD4_ENST00000534526.2_Silent_p.L541L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	404					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.L404L(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAAGAAACTCTTAGAGATTTA	0.353													4	196	---	---	---	---	0	0
PIWIL1	9271	broad.mit.edu	37	12	130845793	130845793	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:130845793T>G	ENST00000245255.3	+	15	2006	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	578	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.D578E(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGTGTACAGATTGCCCTACCC	0.433													30	76	---	---	---	---	0	0
ABCC4	10257	broad.mit.edu	37	13	95862980	95862980	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr13:95862980T>C	ENST00000376887.4	-	5	701	c.587A>G	c.(586-588)aAt>aGt	p.N196S	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.N196S|ABCC4_ENST00000536256.1_Missense_Mutation_p.N121S|ABCC4_ENST00000412704.1_Missense_Mutation_p.N196S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	196	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.N196S(3)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GGACAGCAGATTGACTATCTG	0.418													12	86	---	---	---	---	0	0
HERC1	8925	broad.mit.edu	37	15	63978653	63978653	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr15:63978653G>C	ENST00000443617.2	-	34	6217	c.6130C>G	c.(6130-6132)Cta>Gta	p.L2044V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2044	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.L2044V(3)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCTCCACTAGGCAACACTGA	0.473													7	439	---	---	---	---	0	0
RBFOX1	54715	broad.mit.edu	37	16	7657342	7657342	+	Splice_Site	SNP	T	T	G			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:7657342T>G	ENST00000340209.4	+	7	988		c.e7+2		RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000550418.1_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.?(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCTATGCAGGTACAGAGTTTC	0.368													31	187	---	---	---	---	0	0
TMC7	79905	broad.mit.edu	37	16	19041572	19041572	+	Silent	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:19041572T>C	ENST00000421369.3	+	6	966	c.408T>C	c.(406-408)ttT>ttC	p.F136F	TMC7_ENST00000569532.1_Silent_p.F246F|TMC7_ENST00000304381.5_Silent_p.F246F	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	246						integral to membrane		p.F246F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTAGCCTCTTTTACGGACATT	0.507													7	283	---	---	---	---	0	0
SLC5A2	6524	broad.mit.edu	37	16	31499068	31499068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:31499068G>A	ENST00000330498.3	+	7	892	c.873G>A	c.(871-873)tgG>tgA	p.W291*	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	291					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.W291*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCTGGTACTGGTGCAGCGACC	0.721													10	33	---	---	---	---	0	0
PRPF8	10594	broad.mit.edu	37	17	1559946	1559946	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:1559946A>C	ENST00000572621.1	-	34	5880	c.5615T>G	c.(5614-5616)cTg>cGg	p.L1872R	PRPF8_ENST00000304992.6_Missense_Mutation_p.L1872R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1872	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.L1872R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCTTACCTCCAGTGGGTCCAG	0.552													24	40	---	---	---	---	0	0
XAF1	54739	broad.mit.edu	37	17	6673970	6673970	+	Silent	SNP	T	T	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:6673970T>C	ENST00000361842.3	+	6	755	c.516T>C	c.(514-516)tgT>tgC	p.C172C	XAF1_ENST00000441631.1_Silent_p.C172C|XAF1_ENST00000346752.4_Silent_p.C153C	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	172					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	p.C172C(1)		large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						AGGGTAAATGTTGTCCAGACT	0.348													7	187	---	---	---	---	0	0
GH2	2689	broad.mit.edu	37	17	61958402	61958402	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:61958402G>A	ENST00000332800.7	-	3	411	c.278C>T	c.(277-279)aCg>aTg	p.T93M	GH2_ENST00000423893.2_Missense_Mutation_p.T93M|GH2_ENST00000449787.2_Missense_Mutation_p.T78M|GH2_ENST00000456543.2_Missense_Mutation_p.T93M	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	93						extracellular region	hormone activity	p.T93M(6)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TTTCTGCTGCGTTTTCACCCT	0.572													82	364	---	---	---	---	0	0
S1PR2	9294	broad.mit.edu	37	19	10335297	10335297	+	Silent	SNP	A	A	T			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:10335297A>T	ENST00000590320.1	-	2	395	c.285T>A	c.(283-285)tcT>tcA	p.S95S		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	95					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.S95S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCAGCGTGACAGAGCCAGAGA	0.612													9	42	---	---	---	---	0	0
LILRA3	0	broad.mit.edu	37	19	54803046	54803046	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:54803046G>C	ENST00000391745.1	-	8	998	c.682C>G	c.(682-684)Ccc>Gcc	p.P228A	LILRA3_ENST00000251390.3_Missense_Mutation_p.P211A|LILRA3_ENST00000391744.3_Intron					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3									p.P211A(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGATCACTGGGTAGAGACCAC	0.617													4	77	---	---	---	---	0	0
MT-RNR2	0	broad.mit.edu	37	M	2817	2817	+	RNA	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chrM:2817G>A	ENST00000387347.2	+	0	1147					NR_039705.1																						ATTTCGGTTGGGGCGACCTCG	0.433													8	4	---	---	---	---	0	0
MT-ND1	4535	broad.mit.edu	37	M	3526	3526	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chrM:3526G>A	ENST00000361390.2	+	1	220	c.220G>A	c.(220-222)Gcc>Acc	p.A74T						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						TCTACATCACCGCCCCGACCT	0.542													6	19	---	---	---	---	0	0
TRIM33	51592	broad.mit.edu	37	1	115005788	115005788	+	Silent	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:115005788G>A	ENST00000358465.2	-	4	944	c.861C>T	c.(859-861)ttC>ttT	p.F287F	TRIM33_ENST00000369543.2_Silent_p.F287F|TRIM33_ENST00000450349.2_5'UTR	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	287					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	p.F287F(2)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTTTCACAGAAAAGTTTCA	0.353			T	RET	papillary thyroid								5	74	---	---	---	---	0	0
ITGA10	8515	broad.mit.edu	37	1	145530284	145530284	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:145530284G>T	ENST00000369304.3	+	6	674	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	ITGA10_ENST00000539363.1_Missense_Mutation_p.D24Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.D36Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	167	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.D167Y(2)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACATACATGGATGTTGTCAT	0.498													7	205	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179426189	179426189	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr2:179426189T>G	ENST00000589042.1	-	326	84894	c.84670A>C	c.(84670-84672)Atg>Ctg	p.M28224L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19351L|TTN_ENST00000591111.1_Missense_Mutation_p.M26583L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M25656L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19284L|TTN_ENST00000460472.2_Missense_Mutation_p.M19159L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26583	Ig-like 131.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.M19159L(2)|p.M19351L(1)|p.M25656L(1)|p.M19284L(1)|p.M25654L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTCATACATCAGTCCTTCA	0.398													74	149	---	---	---	---	0	0
ZIC1	7545	broad.mit.edu	37	3	147128521	147128521	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:147128521C>A	ENST00000282928.4	+	1	1351	c.622C>A	c.(622-624)Cac>Aac	p.H208N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	208					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H208N(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCCGCGCATCACGGCGCCGG	0.642													15	64	---	---	---	---	0	0
SOD3	6649	broad.mit.edu	37	4	24801303	24801303	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr4:24801303G>A	ENST00000382120.3	+	2	365	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	54					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding	p.D54N(1)		prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GCAGCGGCGGGACGACGACGG	0.716													14	8	---	---	---	---	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834316	101834316	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:101834316G>A	ENST00000506729.1	-	1	404	c.233C>T	c.(232-234)cCg>cTg	p.P78L	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P78L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	78				KPG -> NRE (in Ref. 1; AAP33048).		integral to membrane|plasma membrane	transporter activity	p.P78L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CACTTCTCCCGGCTTCTTGGA	0.488													55	242	---	---	---	---	0	0
DCDC2	51473	broad.mit.edu	37	6	24357720	24357720	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:24357720C>T	ENST00000378454.3	-	1	560	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	87	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration			p.V87M(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTCCAGCCACGTAATTGCCC	0.587													40	105	---	---	---	---	0	0
KIFC1	3833	broad.mit.edu	37	6	33377450	33377450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:33377450C>T	ENST00000428849.2	+	11	2455	c.2005C>T	c.(2005-2007)Cag>Tag	p.Q669*		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	669					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	p.Q669*(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGGTACTGCTCAGGCCAACAG	0.483													39	259	---	---	---	---	0	0
FBXL4	26235	broad.mit.edu	37	6	99323344	99323344	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:99323344T>G	ENST00000369244.2	-	9	2077	c.1649A>C	c.(1648-1650)gAc>gCc	p.D550A	FBXL4_ENST00000229971.1_Missense_Mutation_p.D550A	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	550					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		p.D550A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTCATCAATGTCTGTGTCACA	0.413													46	121	---	---	---	---	0	0
BBS9	27241	broad.mit.edu	37	7	33573723	33573723	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:33573723T>C	ENST00000242067.6	+	21	2977	c.2456T>C	c.(2455-2457)tTa>tCa	p.L819S	BBS9_ENST00000354265.4_Missense_Mutation_p.L784S|BBS9_ENST00000396127.2_Missense_Mutation_p.L784S|BBS9_ENST00000355070.2_Missense_Mutation_p.L814S|BBS9_ENST00000350941.3_Missense_Mutation_p.L779S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	819					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.L819S(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGCGATAGATTATCCAAAGGT	0.493									Bardet-Biedl syndrome				45	86	---	---	---	---	0	0
TMEM243	79161	broad.mit.edu	37	7	86848787	86848787	+	Silent	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:86848787G>A	ENST00000433078.1	-	2	474	c.33C>T	c.(31-33)acC>acT	p.T11T	TMEM243_ENST00000423734.1_Silent_p.T11T|TMEM243_ENST00000257637.3_Silent_p.T11T					transmembrane protein 243, mitochondrial									p.T11T(1)									CCAGGCCACTGGTGCCGTAGG	0.572													16	68	---	---	---	---	0	0
KIF18A	81930	broad.mit.edu	37	11	28058051	28058051	+	Silent	SNP	A	A	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:28058051A>G	ENST00000263181.6	-	14	2399	c.2109T>C	c.(2107-2109)atT>atC	p.I703I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	703					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	p.I703I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTGTATATACAATAGGCTGAA	0.383													48	191	---	---	---	---	0	0
CABP4	57010	broad.mit.edu	37	11	67223061	67223061	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:67223061G>A	ENST00000325656.5	+	1	244	c.167G>A	c.(166-168)gGc>gAc	p.G56D	CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	56					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	p.G56D(1)		central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AAGCGCACTGGCAGCTCTGGG	0.687													13	9	---	---	---	---	0	0
FUT8	2530	broad.mit.edu	37	14	66208993	66208993	+	Silent	SNP	G	G	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr14:66208993G>C	ENST00000360689.5	+	11	3320	c.1593G>C	c.(1591-1593)gtG>gtC	p.V531V	FUT8_ENST00000557164.1_Silent_p.V368V|FUT8_ENST00000417683.1_Silent_p.V125V|FUT8_ENST00000394585.1_Silent_p.V531V|FUT8_ENST00000394586.2_Silent_p.V531V|FUT8_ENST00000358307.2_Silent_p.V402V	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	531	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	p.V531V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TCATTGGTGTGGCTGGAAATC	0.463													20	181	---	---	---	---	0	0
NBEAP1	0	broad.mit.edu	37	15	20874901	20874901	+	RNA	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr15:20874901G>A	ENST00000556948.1	-	0	347																											TTCTGCATATGGTGGTGTAGA	0.333													3	67	---	---	---	---	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512380	15512380	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:15512380C>T	ENST00000397410.5	-	5	527	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	AKAP8L_ENST00000595465.2_Missense_Mutation_p.V72I	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	p.V133I(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCACTCAGGACGGCCCTCGAG	0.592													5	23	---	---	---	---	0	0
CYP4F2	8529	broad.mit.edu	37	19	16003198	16003198	+	Missense_Mutation	SNP	C	C	T	rs140630977		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:16003198C>T	ENST00000221700.6	-	5	541	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.R149Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGTCAGCATCCGACGGTGGCG	0.567													27	131	---	---	---	---	0	0
GBP2	2634	broad.mit.edu	37	1	89587611	89587611	+	Silent	SNP	G	G	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:89587611G>C	ENST00000370466.3	-	2	307	c.39C>G	c.(37-39)ctC>ctG	p.L13L		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	13					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.L13L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGTTATCAATGAGGCTCATTG	0.498													5	252	---	---	---	---	0	0
GSTM5	2949	broad.mit.edu	37	1	110256100	110256100	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:110256100A>G	ENST00000369813.1	+	2	954	c.49A>G	c.(49-51)Atc>Gtc	p.I17V	GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Missense_Mutation_p.I77V			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	59	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.?(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TTTCCCATCTATCCAGCTGCC	0.592													84	186	---	---	---	---	0	0
ASH1L	55870	broad.mit.edu	37	1	155449745	155449745	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:155449745C>A	ENST00000368346.3	-	3	3555	c.2916G>T	c.(2914-2916)aaG>aaT	p.K972N	ASH1L_ENST00000392403.3_Missense_Mutation_p.K972N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	972					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.K972N(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATTGTTTCTCTTGGTAATTT	0.343													4	240	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158612201	158612201	+	Splice_Site	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:158612201C>T	ENST00000368147.4	-	33	4917	c.4737G>A	c.(4735-4737)aaG>aaA	p.K1579K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.K1579K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTTACCTTCATGGCCT	0.393													9	269	---	---	---	---	0	0
SUCO	51430	broad.mit.edu	37	1	172501831	172501831	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:172501831C>T	ENST00000367723.4	+	1	343	c.219C>T	c.(217-219)aaC>aaT	p.N73N	SUCO_ENST00000608151.1_Silent_p.N73N	NM_016227.2	NP_057311.3			SUN domain containing ossification factor									p.N73N(1)									ACTTCTCTAACAAAACCATGG	0.498													6	78	---	---	---	---	0	0
ARID4B	51742	broad.mit.edu	37	1	235345029	235345029	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:235345029T>C	ENST00000264183.3	-	20	3702	c.3205A>G	c.(3205-3207)Att>Gtt	p.I1069V	ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000349213.3_Missense_Mutation_p.I983V|ARID4B_ENST00000366603.2_Missense_Mutation_p.I1069V	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1069					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.I1069V(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCACCTCAATTGTGCTATCA	0.493													32	54	---	---	---	---	0	0
SRSF7	6432	broad.mit.edu	37	2	38976716	38976716	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:38976716T>A	ENST00000313117.6	-	3	578	c.341A>T	c.(340-342)cAt>cTt	p.H114L	SRSF7_ENST00000446327.2_Missense_Mutation_p.H114L|SRSF7_ENST00000409276.1_Missense_Mutation_p.H114L	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	114					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	p.H114L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATAAGCATAATGTCCCTTTTC	0.413													27	279	---	---	---	---	0	0
CCDC85A	114800	broad.mit.edu	37	2	56603059	56603059	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:56603059C>A	ENST00000407595.2	+	5	2063	c.1561C>A	c.(1561-1563)Cat>Aat	p.H521N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	521								p.H521N(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTGTGGTACATTCTCTTAA	0.498													32	60	---	---	---	---	0	0
CCDC115	84317	broad.mit.edu	37	2	131096732	131096732	+	Silent	SNP	G	G	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:131096732G>C	ENST00000259229.2	-	5	727	c.504C>G	c.(502-504)ctC>ctG	p.L168L	CCDC115_ENST00000409127.1_Silent_p.L163L|CCDC115_ENST00000437688.2_3'UTR	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	168						endosome|lysosome		p.L168L(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					GTTTCTCTTGGAGTCCCCGGA	0.612													7	62	---	---	---	---	0	0
TLK1	9874	broad.mit.edu	37	2	171862701	171862701	+	Silent	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:171862701A>G	ENST00000442919.2	-	18	2331	c.1716T>C	c.(1714-1716)ggT>ggC	p.G572G	TLK1_ENST00000360843.3_Silent_p.G641G|TLK1_ENST00000434911.2_Silent_p.G524G|TLK1_ENST00000521943.1_Silent_p.G572G|TLK1_ENST00000431350.2_Silent_p.G620G	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	620	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G572G(2)|p.G620G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTCCATCTACACCATAGCTAT	0.398													15	213	---	---	---	---	0	0
TTLL3	26140	broad.mit.edu	37	3	9870957	9870957	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:9870957C>A	ENST00000383827.1	+	4	3077	c.796C>A	c.(796-798)Ccc>Acc	p.P266T	TTLL3_ENST00000547186.1_Missense_Mutation_p.P478T|TTLL3_ENST00000426895.4_Missense_Mutation_p.P621T|TTLL3_ENST00000427853.3_Missense_Mutation_p.P266T|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P539T|TTLL3_ENST00000397241.1_Missense_Mutation_p.P266T|TTLL3_ENST00000455274.1_Missense_Mutation_p.P266T|TTLL3_ENST00000430793.1_Missense_Mutation_p.P266T|TTLL3_ENST00000466245.1_3'UTR			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	478	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	p.P478T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CACGATGGCACCCTCCACAGC	0.622													59	91	---	---	---	---	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	rs121913407		TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CACAGCTCCTTCTCTGAGTGG	0.502		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	105	---	---	---	---	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612332	44612332	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:44612332A>G	ENST00000273320.3	+	6	2159	c.1730A>G	c.(1729-1731)aAg>aGg	p.K577R	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.K577R|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7									p.K577R(1)									ACTGGGGAAAAGCCATACAAA	0.433													3	254	---	---	---	---	0	0
SACM1L	22908	broad.mit.edu	37	3	45761023	45761023	+	Silent	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:45761023A>G	ENST00000389061.5	+	8	813	c.609A>G	c.(607-609)ggA>ggG	p.G203G	SACM1L_ENST00000418611.1_Silent_p.G100G|SACM1L_ENST00000541314.1_Silent_p.G142G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	203	SAC.					Golgi apparatus		p.G203G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CTATTAATGGAAAATACTTTG	0.338													6	77	---	---	---	---	0	0
ATP6V1A	523	broad.mit.edu	37	3	113508598	113508598	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:113508598G>T	ENST00000273398.3	+	8	1007	c.899G>T	c.(898-900)gGt>gTt	p.G300V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G267V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	300					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.G300V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGTTGATGGTAAGGTAGAG	0.353													51	103	---	---	---	---	0	0
COL6A5	256076	broad.mit.edu	37	3	130159274	130159274	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:130159274A>T	ENST00000265379.6	+	35	6586	c.6092A>T	c.(6091-6093)gAt>gTt	p.D2031V	COL6A5_ENST00000432398.2_Missense_Mutation_p.D2031V			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2031	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen		p.D70V(1)|p.D2031V(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ACAGAGTTTGATTTCATCACT	0.423													45	100	---	---	---	---	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176755961	176755961	+	Splice_Site	SNP	C	C	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:176755961C>G	ENST00000430069.1	-	12	1307		c.e12-1		TBL1XR1_ENST00000457928.2_Splice_Site			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	p.?(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTACTTCATTCTAAAAATAAT	0.323													4	57	---	---	---	---	0	0
EHHADH	1962	broad.mit.edu	37	3	184910384	184910384	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:184910384G>A	ENST00000231887.3	-	7	1877	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L	EHHADH_ENST00000456310.1_Missense_Mutation_p.S505L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	601						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.S601L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCTATACCGTGATAGGAATTT	0.428													34	227	---	---	---	---	0	0
USP38	84640	broad.mit.edu	37	4	144133502	144133502	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr4:144133502A>G	ENST00000307017.4	+	8	2035	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G	USP38_ENST00000510377.1_Missense_Mutation_p.E510G	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	510					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.E510G(2)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ATATTCTTTGAGGCTTCCAGA	0.383													3	232	---	---	---	---	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629679	9629679	+	Silent	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr5:9629679G>A	ENST00000382492.2	-	1	784	c.466C>T	c.(466-468)Cta>Tta	p.L156L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	156					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.L156L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AATTTCCTTAGGAAGTATGGG	0.393													8	151	---	---	---	---	0	0
LINC00518	0	broad.mit.edu	37	6	10430364	10430364	+	RNA	SNP	T	T	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr6:10430364T>C	ENST00000496285.1	-	0	671					NR_027793.1													p.S42G(1)									atttggtcactctCATTGAGG	0.443													3	178	---	---	---	---	0	0
CROT	54677	broad.mit.edu	37	7	86990868	86990868	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:86990868T>A	ENST00000331536.3	+	5	588	c.403T>A	c.(403-405)Tac>Aac	p.Y135N	CROT_ENST00000419147.2_Missense_Mutation_p.Y163N|CROT_ENST00000442291.1_Missense_Mutation_p.Y135N	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	135					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.Y135N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TAACTTGAACTACTGGCAGCT	0.398													6	178	---	---	---	---	0	0
ABCB4	5244	broad.mit.edu	37	7	87082328	87082328	+	Silent	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:87082328A>G	ENST00000265723.4	-	6	579	c.468T>C	c.(466-468)gcT>gcC	p.A156A	ABCB4_ENST00000545634.1_Silent_p.A156A|ABCB4_ENST00000453593.1_Silent_p.A156A|ABCB4_ENST00000358400.3_Silent_p.A156A|ABCB4_ENST00000359206.3_Silent_p.A156A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	156	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.A156A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTCGTAGAATAGCATGAAAAA	0.413													3	189	---	---	---	---	0	0
GALNT11	63917	broad.mit.edu	37	7	151814291	151814291	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151814291A>G	ENST00000434507.1	+	11	1720	c.1283A>G	c.(1282-1284)aAt>aGt	p.N428S	GALNT11_ENST00000430044.2_Missense_Mutation_p.N428S|GALNT11_ENST00000320311.2_Missense_Mutation_p.N428S|GALNT11_ENST00000452146.2_Missense_Mutation_p.N347S			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	428						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.N428S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGCTATGGCAATATCAGTGAG	0.348													104	238	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151845758	151845758	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151845758C>A	ENST00000355193.2	-	53	13643	c.13425G>T	c.(13423-13425)agG>agT	p.R4475S	KMT2C_ENST00000262189.6_Missense_Mutation_p.R4418S					lysine (K)-specific methyltransferase 2C									p.R4418S(1)|p.R4475S(1)									GGTTGAGTAGCCTTGCTGGTC	0.488													5	172	---	---	---	---	0	0
TRPM6	140803	broad.mit.edu	37	9	77448983	77448983	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr9:77448983T>G	ENST00000451710.3	-	6	837	c.600A>C	c.(598-600)agA>agC	p.R200S	TRPM6_ENST00000360774.1_Missense_Mutation_p.R200S|TRPM6_ENST00000376872.3_Missense_Mutation_p.R200S|TRPM6_ENST00000361255.3_Missense_Mutation_p.R195S|TRPM6_ENST00000449912.2_Missense_Mutation_p.R195S|TRPM6_ENST00000376871.3_Missense_Mutation_p.R200S|TRPM6_ENST00000376864.4_Missense_Mutation_p.R200S|TRPM6_ENST00000359047.2_Missense_Mutation_p.R200S			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	200					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R200S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCAGATTTTTCTCAAGGAAT	0.403													12	186	---	---	---	---	0	0
CUBN	8029	broad.mit.edu	37	10	17032435	17032435	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:17032435C>T	ENST00000377833.4	-	29	4313	c.4248G>A	c.(4246-4248)gaG>gaA	p.E1416E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1416	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.E1416E(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCAGATACACTCCTTGTTTG	0.517													13	147	---	---	---	---	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916435	97916435	+	RNA	SNP	T	T	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:97916435T>G	ENST00000534948.1	+	0	1213							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F119C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATACTCAATTTCAGCTGTTTA	0.388													13	277	---	---	---	---	0	0
DAK	26007	broad.mit.edu	37	11	61111398	61111398	+	Silent	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr11:61111398G>A	ENST00000394900.3	+	12	1282	c.1053G>A	c.(1051-1053)cgG>cgA	p.R351R		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	351					glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	p.R351R(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCGGAGCCGGGTAGCCCCTG	0.602													6	85	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92568131	92568131	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr11:92568131G>A	ENST00000298047.6	+	14	9984	c.9967G>A	c.(9967-9969)Gct>Act	p.A3323T	FAT3_ENST00000409404.2_Missense_Mutation_p.A3323T|FAT3_ENST00000525166.1_Missense_Mutation_p.A3173T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3323	Cadherin 30.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A3323T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTCTCAGCGCTGTGGCCAC	0.498										TCGA Ovarian(4;0.039)			17	17	---	---	---	---	0	0
METTL25	84190	broad.mit.edu	37	12	82792603	82792603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:82792603C>A	ENST00000248306.3	+	4	630	c.561C>A	c.(559-561)taC>taA	p.Y187*	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25									p.Y187*(1)									GTAAAGGCTACCTAAGCTCTT	0.318													6	103	---	---	---	---	0	0
LHX5	64211	broad.mit.edu	37	12	113909233	113909233	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:113909233G>A	ENST00000261731.3	-	1	644	c.71C>T	c.(70-72)gCg>gTg	p.A24V		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	24	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A24V(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GATGTGCCACGCGCGGTCCAG	0.612													3	16	---	---	---	---	0	0
SCARB1	949	broad.mit.edu	37	12	125348169	125348169	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:125348169G>C	ENST00000339570.5	-	1	294	c.98C>G	c.(97-99)cCg>cGg	p.P33R	SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000376788.1_Missense_Mutation_p.P33R|SCARB1_ENST00000415380.2_Missense_Mutation_p.P33R|SCARB1_ENST00000546215.1_Missense_Mutation_p.P33R|SCARB1_ENST00000261693.6_Missense_Mutation_p.P33R	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	33					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	p.P33R(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GATGAGCGACGGCACCATCAC	0.716													3	15	---	---	---	---	0	0
USP12	219333	broad.mit.edu	37	13	27649444	27649444	+	Silent	SNP	T	T	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr13:27649444T>A	ENST00000282344.6	-	7	1072	c.816A>T	c.(814-816)acA>acT	p.T272T		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	272					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.T272T(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		AAGAGAGTTTTGTATATCGAT	0.358													42	61	---	---	---	---	0	0
PCNXL4	64430	broad.mit.edu	37	14	60591549	60591549	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:60591549A>G	ENST00000406854.1	+	9	3214	c.2660A>G	c.(2659-2661)gAc>gGc	p.D887G	PCNXL4_ENST00000404681.2_Missense_Mutation_p.D887G|PCNXL4_ENST00000317623.4_Missense_Mutation_p.D653G|PCNXL4_ENST00000406949.1_Missense_Mutation_p.D653G|PCNXL4_ENST00000535349.1_Missense_Mutation_p.D94G					pecanex-like 4 (Drosophila)									p.D653G(1)|p.D887G(1)									CCTGCTGTTGACAAAGGAAAA	0.438													13	384	---	---	---	---	0	0
VIPAS39	63894	broad.mit.edu	37	14	77896064	77896064	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:77896064C>T	ENST00000553888.1	-	17	1736	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	VIPAS39_ENST00000557658.1_Missense_Mutation_p.R409Q|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R360Q|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R435Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R396Q|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R409Q	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog									p.R409Q(1)									TTCGACAACCCGATGGAAGCC	0.502													25	414	---	---	---	---	0	0
TJP1	7082	broad.mit.edu	37	15	30025006	30025006	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:30025006C>A	ENST00000346128.6	-	14	2224	c.1750G>T	c.(1750-1752)Gcc>Tcc	p.A584S	TJP1_ENST00000400011.2_Missense_Mutation_p.A588S|TJP1_ENST00000545208.2_Missense_Mutation_p.A584S|TJP1_ENST00000356107.6_Missense_Mutation_p.A584S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	584	SH3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.A584S(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTACACTGGCTAGCTGCTCA	0.403													40	45	---	---	---	---	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30925726	30925726	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:30925726A>C	ENST00000428041.2	+	3	379	c.234A>C	c.(232-234)gaA>gaC	p.E78D		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	78	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E78D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTTTAGAAGAACATATTCATA	0.373													4	186	---	---	---	---	0	0
AFG3L2	10939	broad.mit.edu	37	18	12358924	12358924	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr18:12358924C>A	ENST00000269143.3	-	8	1002	c.771G>T	c.(769-771)atG>atT	p.M257I		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	257					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.M257I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CCGTAGGCAGCATGCTCAGCA	0.552													3	33	---	---	---	---	0	0
MED16	10025	broad.mit.edu	37	19	881676	881676	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:881676G>T	ENST00000312090.6	-	7	1174	c.1024C>A	c.(1024-1026)Cta>Ata	p.L342I	MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.L342I|MED16_ENST00000325464.1_Missense_Mutation_p.L342I|MED16_ENST00000395808.3_Missense_Mutation_p.L342I|MED16_ENST00000269814.4_Missense_Mutation_p.L342I			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	342					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	p.L342I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCCGATAGGATCCGCCAT	0.577													4	136	---	---	---	---	0	0
RYR1	6261	broad.mit.edu	37	19	38976722	38976722	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:38976722C>A	ENST00000355481.4	+	34	5558	c.5427C>A	c.(5425-5427)gaC>gaA	p.D1809E	RYR1_ENST00000360985.3_Missense_Mutation_p.D1809E|RYR1_ENST00000359596.3_Missense_Mutation_p.D1809E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1809	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D1809E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTGCGGGACAAGGCACTGA	0.711													43	57	---	---	---	---	0	0
A1BG	1	broad.mit.edu	37	19	58863782	58863782	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:58863782C>T	ENST00000263100.3	-	4	541	c.480G>A	c.(478-480)gaG>gaA	p.E160E	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	160	Ig-like V-type 2.					extracellular region		p.E160E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCTCAGGCACCTCCAGAAACT	0.627													12	207	---	---	---	---	0	0
PHF20	51230	broad.mit.edu	37	20	34389529	34389529	+	Splice_Site	SNP	T	T	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:34389529T>G	ENST00000374012.3	+	2	212		c.e2+2		PHF20_ENST00000481202.1_Splice_Site|PHF20_ENST00000439301.1_Splice_Site			Q9BVI0	PHF20_HUMAN	PHD finger protein 20						regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	p.?(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAAAAACTGGTACTTTTACAT	0.413													4	74	---	---	---	---	0	0
OSER1	51526	broad.mit.edu	37	20	42826279	42826279	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:42826279T>C	ENST00000372970.2	-	6	472	c.292A>G	c.(292-294)Ata>Gta	p.I98V	OSER1_ENST00000255174.2_Missense_Mutation_p.I98V					oxidative stress responsive serine-rich 1									p.I98V(1)									GAAGACGCTATTGTACTGCAA	0.488													21	159	---	---	---	---	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421246	39421246	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr22:39421246C>T	ENST00000216099.8	+	3	789	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	APOBEC3D_ENST00000381568.4_Silent_p.L128L|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.L128L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CAATGTCACCCTGACCATCTC	0.572													7	103	---	---	---	---	0	0
AGL	178	broad.mit.edu	37	1	100327247	100327247	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:100327247T>C	ENST00000294724.4	+	3	749	c.271T>C	c.(271-273)Ttt>Ctt	p.F91L	AGL_ENST00000361302.3_Missense_Mutation_p.F75L|AGL_ENST00000370163.3_Missense_Mutation_p.F91L|AGL_ENST00000370165.3_Missense_Mutation_p.F91L|AGL_ENST00000361915.3_Missense_Mutation_p.F91L|AGL_ENST00000361522.4_Missense_Mutation_p.F74L|AGL_ENST00000370161.2_Missense_Mutation_p.F75L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	91					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.F91L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATCTGGTTCATTTCAGTATTA	0.313													37	108	---	---	---	---	0	0
NHLH2	4808	broad.mit.edu	37	1	116380707	116380707	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:116380707G>T	ENST00000369506.1	-	1	5831	c.287C>A	c.(286-288)gCc>gAc	p.A96D	NHLH2_ENST00000320238.3_Missense_Mutation_p.A96D			Q02577	HEN2_HUMAN	nescient helix loop helix 2	96	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.A96D(1)		prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCGGCGAAGGCCAAGTTGAA	0.672													3	14	---	---	---	---	0	0
TDRKH	11022	broad.mit.edu	37	1	151751596	151751596	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:151751596C>G	ENST00000368822.1	-	5	1177	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q	TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.E182Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E182Q|TDRKH_ENST00000368827.6_Missense_Mutation_p.E182Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E178Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E137Q			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	182	KH 2.						RNA binding	p.E182Q(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCCACTTCCTTCTGTGTT	0.398													98	293	---	---	---	---	0	0
BCAN	63827	broad.mit.edu	37	1	156616762	156616762	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:156616762G>T	ENST00000329117.5	+	3	597	c.261G>T	c.(259-261)gaG>gaT	p.E87D	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E87D	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.E87D(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCCGGGAGGCAGAGGTGC	0.706													4	60	---	---	---	---	0	0
FAM163A	148753	broad.mit.edu	37	1	179782917	179782917	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:179782917T>C	ENST00000341785.4	+	5	493	c.97T>C	c.(97-99)Tac>Cac	p.Y33H		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	33						integral to membrane		p.Y33H(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CGCACAGTATTACTGCTGCAA	0.627													8	59	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	141473656	141473656	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:141473656G>T	ENST00000389484.3	-	37	6880	c.5909C>A	c.(5908-5910)aCa>aAa	p.T1970K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1970					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.T1970K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCATGATCTGTCCAATATAT	0.318										TSP Lung(27;0.18)			22	344	---	---	---	---	0	0
PLK4	0	broad.mit.edu	37	4	128814966	128814966	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:128814966G>A	ENST00000270861.5	+	13	2766	c.2492G>A	c.(2491-2493)aGa>aAa	p.R831K	PLK4_ENST00000513090.1_Missense_Mutation_p.R799K|PLK4_ENST00000514379.1_Missense_Mutation_p.R790K|PLK4_ENST00000515069.1_Missense_Mutation_p.R753K|PLK4_ENST00000507249.1_Missense_Mutation_p.R770K	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	831					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R831K(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ACGAGAGAGAGAGCATCTTTC	0.418													9	306	---	---	---	---	0	0
F11	2160	broad.mit.edu	37	4	187197050	187197050	+	Splice_Site	SNP	G	G	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:187197050G>T	ENST00000264692.4	+	6	772	c.439G>T	c.(439-441)Gct>Tct	p.A147S	F11_ENST00000403665.2_Splice_Site_p.A199S			P03951	FA11_HUMAN	coagulation factor XI	199	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.A199S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TTCTAATCTGGGTAATTATCG	0.408													18	40	---	---	---	---	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54603876	54603876	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:54603876T>A	ENST00000230640.5	+	1	289	c.35T>A	c.(34-36)gTg>gAg	p.V12E	SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_5'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	12					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.V12E(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CTGTTCAGCGTGTTCGAGGGC	0.582													23	110	---	---	---	---	0	0
NR2F1	7025	broad.mit.edu	37	5	92923847	92923847	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:92923847G>A	ENST00000327111.3	+	2	2375	c.688G>A	c.(688-690)Gcc>Acc	p.A230T		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	230					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.A230T(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCTCTTCAGCGCCGTCGAGTG	0.637													14	105	---	---	---	---	0	0
FAM135A	57579	broad.mit.edu	37	6	71232237	71232237	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr6:71232237T>G	ENST00000418814.2	+	13	1665	c.1051T>G	c.(1051-1053)Ttc>Gtc	p.F351V	FAM135A_ENST00000505769.1_Missense_Mutation_p.F351V|FAM135A_ENST00000361499.3_Missense_Mutation_p.F351V|FAM135A_ENST00000457062.2_Missense_Mutation_p.F334V|FAM135A_ENST00000505868.1_Missense_Mutation_p.F351V|FAM135A_ENST00000370479.3_Missense_Mutation_p.F334V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	351								p.F351V(1)|p.F334V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTCTGAGGCATTCTTTTGTTT	0.333													72	192	---	---	---	---	0	0
FDFT1	2222	broad.mit.edu	37	8	11667248	11667248	+	Silent	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:11667248G>A	ENST00000220584.4	+	3	492	c.270G>A	c.(268-270)gtG>gtA	p.V90V	FDFT1_ENST00000528643.1_Silent_p.V5V|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000443614.2_Silent_p.V90V|FDFT1_ENST00000528812.1_Silent_p.V26V|FDFT1_ENST00000525777.1_Silent_p.V5V|FDFT1_ENST00000530664.1_Silent_p.V26V|FDFT1_ENST00000525900.1_Silent_p.V83V|FDFT1_ENST00000446331.2_Intron	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	90					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	p.V90V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCATCAGTGTGGAAAAGAAGG	0.463													6	95	---	---	---	---	0	0
MCM4	4173	broad.mit.edu	37	8	48878815	48878815	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:48878815G>A	ENST00000262105.2	+	8	1110	c.901G>A	c.(901-903)Gag>Aag	p.E301K	MCM4_ENST00000523944.1_Missense_Mutation_p.E301K	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	301					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.E301K(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CGAGATGCAGGAGGCCTTCTT	0.617													93	76	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113277665	113277665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:113277665C>T	ENST00000297405.5	-	60	9907	c.9663G>A	c.(9661-9663)tgG>tgA	p.W3221*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W3181*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W3052*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W3151*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3221	Sushi 24.					integral to membrane|plasma membrane		p.W3221*(1)|p.T3214_W3221del(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTACTCCACTCCATGTGCCAT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			104	288	---	---	---	---	0	0
TTLL11	158135	broad.mit.edu	37	9	124751554	124751554	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr9:124751554C>A	ENST00000321582.5	-	4	1646	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F	TTLL11_ENST00000373776.3_Missense_Mutation_p.V487F|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	487	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.V487F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGCGCGATGACCGTCTTAATC	0.532													25	239	---	---	---	---	0	0
LCN8	138307	broad.mit.edu	37	9	139651558	139651558	+	Silent	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr9:139651558C>T	ENST00000371688.3	-	2	382	c.87G>A	c.(85-87)ccG>ccA	p.P29P	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	52					transport	extracellular region	binding	p.P29P(1)		endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CCACCCGCTTCGGGGCCGTCA	0.587													4	49	---	---	---	---	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508619	37508619	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr10:37508619C>A	ENST00000374660.1	+	40	4267	c.4168C>A	c.(4168-4170)Caa>Aaa	p.Q1390K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q1271K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q1271K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1327						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q1271K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTCAACTACAAAGCAAAAA	0.338													7	78	---	---	---	---	0	0
MLEC	9761	broad.mit.edu	37	12	121132062	121132062	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr12:121132062C>A	ENST00000228506.3	+	2	832	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	MLEC_ENST00000412616.2_Missense_Mutation_p.S135Y	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	135					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.S135Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TTTGCACAGTCCCAGCAAAAG	0.522													37	87	---	---	---	---	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878180	24878180	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr14:24878180C>A	ENST00000382554.3	+	4	1498	c.1180C>A	c.(1180-1182)Cag>Aag	p.Q394K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	394					DNA integration	integral to membrane	DNA binding	p.Q394K(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCCTTCTGGCAGAGACCTCT	0.567													11	34	---	---	---	---	0	0
NRXN3	9369	broad.mit.edu	37	14	80271470	80271470	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr14:80271470C>A	ENST00000281127.7	+	5	1804	c.925C>A	c.(925-927)Ctt>Att	p.L309I	NRXN3_ENST00000335750.5_Missense_Mutation_p.L941I|NRXN3_ENST00000557594.1_Missense_Mutation_p.L309I|NRXN3_ENST00000428277.2_Missense_Mutation_p.L339I|NRXN3_ENST00000554719.1_Missense_Mutation_p.L941I|NRXN3_ENST00000556003.1_Intron	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	309					angiogenesis|cell adhesion	integral to membrane		p.L941I(1)|p.L339I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCAGATGATCTTGTTTCATC	0.383													9	228	---	---	---	---	0	0
RYR3	6263	broad.mit.edu	37	15	33835896	33835896	+	Silent	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:33835896C>T	ENST00000389232.4	+	8	790	c.720C>T	c.(718-720)gaC>gaT	p.D240D	RYR3_ENST00000415757.3_Silent_p.D240D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	240	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D240D(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCTACAGACCAGAATGATT	0.398													46	262	---	---	---	---	0	0
STRC	161497	broad.mit.edu	37	15	43896963	43896963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:43896963G>A	ENST00000450892.2	-	20	4089	c.4012C>T	c.(4012-4014)Cga>Tga	p.R1338*	STRC_ENST00000541030.1_Nonsense_Mutation_p.R565*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1338					sensory perception of sound	cell surface		p.R1338*(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGGATCTGTCGTGTGCTCTCT	0.552													44	50	---	---	---	---	0	0
CEP152	22995	broad.mit.edu	37	15	49036526	49036526	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:49036526C>T	ENST00000380950.2	-	24	3933	c.3746G>A	c.(3745-3747)gGg>gAg	p.G1249E	CEP152_ENST00000325747.5_Missense_Mutation_p.G1156E|CEP152_ENST00000399334.3_Missense_Mutation_p.G1193E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1193					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.G1193E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCAATGGCCCCTGCTGACAA	0.338													47	58	---	---	---	---	0	0
VPS13C	54832	broad.mit.edu	37	15	62266506	62266506	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:62266506G>A	ENST00000261517.5	-	25	2592	c.2519C>T	c.(2518-2520)gCc>gTc	p.A840V	VPS13C_ENST00000395896.4_Missense_Mutation_p.A840V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A797V|VPS13C_ENST00000249837.3_Missense_Mutation_p.A797V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	840					protein localization			p.A840V(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGGAGACTGGGCTGATGATTT	0.373													82	140	---	---	---	---	0	0
ACAN	176	broad.mit.edu	37	15	89386657	89386657	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:89386657G>A	ENST00000439576.2	+	6	1203	c.829G>A	c.(829-831)Ggt>Agt	p.G277S	ACAN_ENST00000558207.1_Missense_Mutation_p.G277S|ACAN_ENST00000559004.1_Missense_Mutation_p.G277S|ACAN_ENST00000561243.1_Missense_Mutation_p.G277S|ACAN_ENST00000352105.7_Missense_Mutation_p.G277S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	277					cell adhesion		hyaluronic acid binding|sugar binding	p.G277S(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCGGCGGCTGGGTGCCCGGCT	0.647													6	13	---	---	---	---	0	0
TCEB2	6923	broad.mit.edu	37	16	2827129	2827129	+	Splice_Site	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:2827129C>T	ENST00000409906.4	-	2	61		c.e2-1		TCEB2_ENST00000262306.7_Splice_Site|TCEB2_ENST00000572954.1_Splice_Site|TCEB2_ENST00000409477.1_5'UTR	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)						positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding	p.?(1)		endometrium(2)|prostate(1)	3						GGAACACGTCCTGGGGGCGGC	0.756													7	10	---	---	---	---	0	0
ABCC12	94160	broad.mit.edu	37	16	48121966	48121966	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:48121966C>T	ENST00000311303.3	-	25	3851	c.3506G>A	c.(3505-3507)cGt>cAt	p.R1169H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1169	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1169H(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTCCACCAGACGAAACAAAGC	0.433													27	32	---	---	---	---	0	0
TLK2	11011	broad.mit.edu	37	17	60654069	60654069	+	Splice_Site	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr17:60654069G>A	ENST00000582809.1	+	14	1377		c.e14-1		TLK2_ENST00000542523.1_Splice_Site|TLK2_ENST00000343388.7_Splice_Site|TLK2_ENST00000326270.9_Splice_Site|TLK2_ENST00000346027.5_Splice_Site			Q86UE8	TLK2_HUMAN	tousled-like kinase 2						cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.?(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CTGTTTTTCAGGTTAACGTTA	0.313													9	271	---	---	---	---	0	0
NDC80	10403	broad.mit.edu	37	18	2610828	2610828	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr18:2610828G>A	ENST00000261597.4	+	16	1941	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	587	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	p.E587K(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ACGTCTGTTAGAGATGGTTGC	0.373													14	255	---	---	---	---	0	0
LMAN1	3998	broad.mit.edu	37	18	57006162	57006162	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr18:57006162C>T	ENST00000251047.5	-	9	1696	c.979G>A	c.(979-981)Gga>Aga	p.G327R		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	327					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	p.G327R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCTCGATCTCCTACACTCTCA	0.368													41	178	---	---	---	---	0	0
GABRE	2564	broad.mit.edu	37	X	151138738	151138738	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chrX:151138738C>T	ENST00000370325.1	-	2	246	c.193G>A	c.(193-195)Gtt>Att	p.V65I	GABRE_ENST00000370328.3_Missense_Mutation_p.V65I|GABRE_ENST00000393914.3_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	65					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V65I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTTGCCAACTCTGCTCCCA	0.532													10	220	---	---	---	---	0	0
PLCH2	9651	broad.mit.edu	37	1	2419086	2419086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:2419086C>A	ENST00000449969.1	+	8	1244	c.1083C>A	c.(1081-1083)taC>taA	p.Y361*	PLCH2_ENST00000419816.2_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.Y388*			O75038	PLCH2_HUMAN	phospholipase C, eta 2	388	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Y388*(1)|p.Y235*(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACCATGGCTACACTCTGACTT	0.592													5	64	---	---	---	---	0	0
VPS13D	55187	broad.mit.edu	37	1	12337950	12337950	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:12337950T>G	ENST00000358136.3	+	19	4435	c.4305T>G	c.(4303-4305)aaT>aaG	p.N1435K	VPS13D_ENST00000356315.4_Missense_Mutation_p.N1435K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1435					protein localization			p.N1435K(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTCTTTGAATTGCACCCAGT	0.498													88	179	---	---	---	---	0	0
TGFBR3	7049	broad.mit.edu	37	1	92262994	92262994	+	Silent	SNP	A	A	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:92262994A>T	ENST00000212355.4	-	3	561	c.96T>A	c.(94-96)ccT>ccA	p.P32P	TGFBR3_ENST00000370399.2_Silent_p.P32P|TGFBR3_ENST00000525962.1_Silent_p.P32P	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	32					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.P32P(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGCACTGACAGGTGACAGTT	0.552													42	96	---	---	---	---	0	0
VAV3	10451	broad.mit.edu	37	1	108417620	108417620	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:108417620A>C	ENST00000370056.4	-	2	498	c.224T>G	c.(223-225)aTa>aGa	p.I75R	VAV3_ENST00000527011.1_Missense_Mutation_p.I75R|VAV3_ENST00000371846.4_Missense_Mutation_p.I10R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	75	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.I75R(2)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAATGTCCTTATGTTCTTCAA	0.398													48	104	---	---	---	---	0	0
CACYBP	27101	broad.mit.edu	37	1	174979201	174979201	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:174979201G>A	ENST00000367681.2	+	6	1184	c.544G>A	c.(544-546)Gac>Aac	p.D182N	CACYBP_ENST00000367679.2_Missense_Mutation_p.D225N|CACYBP_ENST00000405362.1_Missense_Mutation_p.D182N	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	225	Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS.					beta-catenin destruction complex	protein homodimerization activity	p.D225N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AGCCAAAGGAGACACGGAATT	0.378													30	77	---	---	---	---	0	0
TDRD5	163589	broad.mit.edu	37	1	179638343	179638343	+	Silent	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:179638343T>C	ENST00000444136.1	+	17	2914	c.2664T>C	c.(2662-2664)aaT>aaC	p.N888N	TDRD5_ENST00000294848.8_Silent_p.N834N|TDRD5_ENST00000367614.1_Silent_p.N834N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	860					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.N834N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGACATAAATGGTTCTTCAG	0.403													69	148	---	---	---	---	0	0
F13B	2165	broad.mit.edu	37	1	197030932	197030932	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:197030932T>C	ENST00000367412.1	-	3	476	c.433A>G	c.(433-435)Acc>Gcc	p.T145A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	145	Sushi 2.				blood coagulation	extracellular region		p.T145A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCCTACAGGTTGGTTGAGAA	0.373													36	79	---	---	---	---	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092294	202092294	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:202092294C>T	ENST00000367282.5	+	1	309	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.P68L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GCGGAGTACCCCCGGCCCATT	0.672													6	45	---	---	---	---	0	0
GPATCH2	55105	broad.mit.edu	37	1	217604605	217604605	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:217604605C>T	ENST00000366935.3	-	10	1579	c.1469G>A	c.(1468-1470)gGc>gAc	p.G490D		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	490	G-patch.					intracellular	nucleic acid binding	p.G490D(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GATCCCCTTGCCATCTCGTCC	0.478													6	377	---	---	---	---	0	0
NLRP3	114548	broad.mit.edu	37	1	247587856	247587856	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:247587856C>A	ENST00000366497.2	+	4	1891	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	NLRP3_ENST00000336119.3_Missense_Mutation_p.L371M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L371M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391827.2_Missense_Mutation_p.L371M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	371	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L371M(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTGGAGATCCTGGGTTTCTC	0.547													58	129	---	---	---	---	0	0
SNRNP200	23020	broad.mit.edu	37	2	96970455	96970455	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:96970455T>G	ENST00000323853.5	-	2	274	c.197A>C	c.(196-198)gAa>gCa	p.E66A	SNRNP200_ENST00000349783.5_Missense_Mutation_p.E66A	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	66						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E66A(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGCTCTTCTTTCCTCCTGCAT	0.517													41	105	---	---	---	---	0	0
SLC5A7	60482	broad.mit.edu	37	2	108614336	108614336	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:108614336C>G	ENST00000264047.2	+	5	767	c.491C>G	c.(490-492)tCt>tGt	p.S164C	SLC5A7_ENST00000540517.1_Missense_Mutation_p.S59C|SLC5A7_ENST00000409059.1_Missense_Mutation_p.S164C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	164					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.S164C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGCACATTTCTGTCATCATC	0.468													174	372	---	---	---	---	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279676	217279676	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:217279676C>G	ENST00000357276.4	+	3	579	c.249C>G	c.(247-249)gaC>gaG	p.D83E	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D83E	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	83					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	p.D83E(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTAATGCTGACCAAAGACCTC	0.478									Schimke Immuno-Osseous Dysplasia				27	134	---	---	---	---	0	0
VIL1	7429	broad.mit.edu	37	2	219305571	219305571	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:219305571C>T	ENST00000248444.5	+	19	2444	c.2356C>T	c.(2356-2358)Ccc>Tcc	p.P786S	VIL1_ENST00000392114.2_Missense_Mutation_p.P475S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	786	HP.|Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.P786S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTGTGGACCCCAGCAGGAA	0.537													17	45	---	---	---	---	0	0
STAC	6769	broad.mit.edu	37	3	36524554	36524554	+	Silent	SNP	C	C	T	rs145962483		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:36524554C>T	ENST00000273183.3	+	3	759	c.459C>T	c.(457-459)ggC>ggT	p.G153G	STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	153					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.G153G(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCACAGATGGCCTGGCACCCC	0.562													33	90	---	---	---	---	0	0
SCN11A	11280	broad.mit.edu	37	3	38946767	38946767	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:38946767G>T	ENST00000302328.3	-	11	1717	c.1519C>A	c.(1519-1521)Ctg>Atg	p.L507M	SCN11A_ENST00000450244.1_Missense_Mutation_p.L507M|SCN11A_ENST00000444237.2_Missense_Mutation_p.L507M|SCN11A_ENST00000456224.3_Missense_Mutation_p.L507M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	507					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L507M(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGTGGTCCAGTGATAGATTC	0.512													85	190	---	---	---	---	0	0
GBE1	2632	broad.mit.edu	37	3	81695585	81695585	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:81695585G>A	ENST00000429644.2	-	6	1383	c.740C>T	c.(739-741)gCc>gTc	p.A247V	GBE1_ENST00000489715.1_Missense_Mutation_p.A206V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	247					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.A247V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ACCAAAGCTGGCATAGTAAGC	0.338									Glycogen Storage Disease, type IV				54	111	---	---	---	---	0	0
DNAJC13	23317	broad.mit.edu	37	3	132198111	132198111	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:132198111T>C	ENST00000260818.6	+	25	2998	c.2750T>C	c.(2749-2751)cTt>cCt	p.L917P		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	917							heat shock protein binding	p.L917P(1)|p.L300P(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTCTCTTCCTTAACAAGTTG	0.303													15	153	---	---	---	---	0	0
CEP63	80254	broad.mit.edu	37	3	134264447	134264447	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:134264447A>C	ENST00000337090.3	+	7	748	c.575A>C	c.(574-576)aAa>aCa	p.K192T	CEP63_ENST00000332047.5_Missense_Mutation_p.K192T|CEP63_ENST00000513612.2_Missense_Mutation_p.K192T|CEP63_ENST00000606977.1_Missense_Mutation_p.K192T|CEP63_ENST00000354446.3_Missense_Mutation_p.K192T|CEP63_ENST00000383229.3_Missense_Mutation_p.K192T			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	192					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.K192T(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCAATCGGAAACAGAAATTA	0.353													34	119	---	---	---	---	0	0
IGSF10	285313	broad.mit.edu	37	3	151161667	151161667	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:151161667C>G	ENST00000282466.3	-	5	5067	c.5068G>C	c.(5068-5070)Gat>Cat	p.D1690H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1690	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.D1690H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTAGATAAATCAAGTCCTGAG	0.398													24	96	---	---	---	---	0	0
PSMD2	5708	broad.mit.edu	37	3	184026525	184026525	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:184026525G>C	ENST00000310118.4	+	21	3132	c.2574G>C	c.(2572-2574)aaG>aaC	p.K858N	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.K728N|PSMD2_ENST00000435761.1_Missense_Mutation_p.K699N	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	858					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.K858N(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AGGCTGGCAAGCCGAAGACTA	0.547											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	106	---	---	---	---	0	0
MASP1	5648	broad.mit.edu	37	3	186971086	186971086	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:186971086T>G	ENST00000337774.5	-	6	1151	c.762A>C	c.(760-762)aaA>aaC	p.K254N	MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.K254N	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	254	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.K254N(2)|p.K254K(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCCCCAAAACTTTTGGACCAA	0.498													159	436	---	---	---	---	0	0
ATP13A3	79572	broad.mit.edu	37	3	194126843	194126843	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:194126843C>T	ENST00000439040.1	-	33	4277	c.3486G>A	c.(3484-3486)gaG>gaA	p.E1162E	ATP13A3_ENST00000256031.4_Silent_p.E1162E			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1162					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.E1162E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GATCCACTGACTCCTAAGAAA	0.428													14	133	---	---	---	---	0	0
FSTL5	56884	broad.mit.edu	37	4	162577600	162577600	+	Silent	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:162577600A>G	ENST00000306100.5	-	7	1210	c.774T>C	c.(772-774)acT>acC	p.T258T	FSTL5_ENST00000536695.1_Silent_p.T257T|FSTL5_ENST00000379164.4_Silent_p.T257T|FSTL5_ENST00000427802.2_Silent_p.T257T|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	258	Ig-like 1.					extracellular region	calcium ion binding	p.T258T(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGTTGCTGCAGTGATGCTTA	0.398													18	88	---	---	---	---	0	0
PCDHA1	0	broad.mit.edu	37	5	140166478	140166478	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr5:140166478T>A	ENST00000504120.2	+	1	603	c.603T>A	c.(601-603)gaT>gaA	p.D201E	PCDHA1_ENST00000378133.3_Missense_Mutation_p.D201E|PCDHA1_ENST00000394633.3_Missense_Mutation_p.D201E	NM_018900.2	NP_061723.1												p.D201E(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATATTTGGATAGAGAAGAAA	0.453													11	121	---	---	---	---	0	0
PGBD1	84547	broad.mit.edu	37	6	28269738	28269738	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:28269738G>C	ENST00000405948.2	+	7	2527	c.2107G>C	c.(2107-2109)Ggc>Cgc	p.G703R	PGBD1_ENST00000259883.3_Missense_Mutation_p.G703R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	703					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.G703R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAATGCTGTGGGCATAGAACC	0.398													24	251	---	---	---	---	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976509	47976509	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:47976509G>C	ENST00000543600.1	-	2	756	c.717C>G	c.(715-717)gaC>gaG	p.D239E	PTCHD4_ENST00000339488.4_Missense_Mutation_p.D256E			Q6ZW05	CF138_HUMAN	patched domain containing 4	256	SSD.					integral to membrane	hedgehog receptor activity	p.D256E(1)									TGCGCAAGCAGTCCTTCATGG	0.567													8	73	---	---	---	---	0	0
DST	667	broad.mit.edu	37	6	56341001	56341001	+	Silent	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:56341001T>C	ENST00000370754.5	-	92	21716	c.21717A>G	c.(21715-21717)aaA>aaG	p.K7239K	DST_ENST00000370769.4_Silent_p.K7061K|DST_ENST00000421834.2_Silent_p.K4973K|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.K4647K|DST_ENST00000370788.2_Silent_p.K4864K|DST_ENST00000446842.2_Silent_p.K6735K|DST_ENST00000361203.3_Silent_p.K6950K			Q03001	DYST_HUMAN	dystonin	7059	EF-hand 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.K4647K(1)|p.K7061K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGATGACTTCTTTATCCTTAT	0.423													7	43	---	---	---	---	0	0
PARK2	5071	broad.mit.edu	37	6	161969991	161969991	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:161969991C>A	ENST00000366898.1	-	9	1080	c.978G>T	c.(976-978)caG>caT	p.Q326H	PARK2_ENST00000366897.1_Missense_Mutation_p.Q298H|PARK2_ENST00000366896.1_Missense_Mutation_p.Q177H|PARK2_ENST00000338468.3_Missense_Mutation_p.Q135H|PARK2_ENST00000366894.1_Missense_Mutation_p.Q135H|PARK2_ENST00000366892.1_Missense_Mutation_p.Q326H	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	326					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q326H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CGCCCCCCATCTGCAGGACAC	0.577													60	150	---	---	---	---	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474214	99474214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:99474214G>T	ENST00000316368.2	-	1	466	c.443C>A	c.(442-444)tCa>tAa	p.S148*		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S148*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCCCAACCATGACATGACAGC	0.502													54	122	---	---	---	---	0	0
SERPINE1	5054	broad.mit.edu	37	7	100775170	100775170	+	Silent	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:100775170T>C	ENST00000223095.4	+	4	677	c.520T>C	c.(520-522)Ttg>Ctg	p.L174L	SERPINE1_ENST00000445463.2_Silent_p.L159L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	174					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.L174L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GATCAGCAACTTGCTTGGGAA	0.493													20	317	---	---	---	---	0	0
SERPINE1	5054	broad.mit.edu	37	7	100775172	100775172	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:100775172G>A	ENST00000223095.4	+	4	679	c.522G>A	c.(520-522)ttG>ttA	p.L174L	SERPINE1_ENST00000445463.2_Silent_p.L159L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	174					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.L174L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCAGCAACTTGCTTGGGAAAG	0.498													19	311	---	---	---	---	0	0
C7orf60	154743	broad.mit.edu	37	7	112555403	112555403	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:112555403G>C	ENST00000297145.4	-	2	425	c.260C>G	c.(259-261)gCa>gGa	p.A87G	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	87								p.A87G(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						ACAAGTTTTTGCCCAATGATT	0.363													49	147	---	---	---	---	0	0
CNOT4	4850	broad.mit.edu	37	7	135106938	135106938	+	Silent	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:135106938A>C	ENST00000428680.2	-	3	618	c.339T>G	c.(337-339)gtT>gtG	p.V113V	CNOT4_ENST00000541284.1_Silent_p.V113V|CNOT4_ENST00000451834.1_Silent_p.V113V|CNOT4_ENST00000361528.4_Silent_p.V113V|CNOT4_ENST00000423368.2_Silent_p.V113V|CNOT4_ENST00000414802.1_Silent_p.V113V|CNOT4_ENST00000356162.4_Silent_p.V113V|CNOT4_ENST00000315544.5_Silent_p.V113V	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	113	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.V113V(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATAAACCTACAACAAAGACGA	0.348													54	128	---	---	---	---	0	0
ESYT2	57488	broad.mit.edu	37	7	158557460	158557460	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:158557460C>G	ENST00000251527.5	-	9	1218	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	413	C2 1.					integral to membrane|plasma membrane		p.D385H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCATAGGGGTCTGACTTTCCC	0.433													41	323	---	---	---	---	0	0
PREX2	80243	broad.mit.edu	37	8	69002823	69002823	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:69002823C>T	ENST00000288368.4	+	20	2400	c.2123C>T	c.(2122-2124)gCt>gTt	p.A708V	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	708	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.A708V(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAACTGTGGCTGCAGCAGCT	0.368													54	63	---	---	---	---	0	0
GRHL2	79977	broad.mit.edu	37	8	102570788	102570788	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:102570788C>A	ENST00000251808.3	+	4	764	c.426C>A	c.(424-426)agC>agA	p.S142R	GRHL2_ENST00000395927.1_Missense_Mutation_p.S126R	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	142						cytoplasm|nucleus	DNA binding	p.S142R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACAGCATCAGCTTCCCCGAGA	0.517													70	235	---	---	---	---	0	0
SNTB1	6641	broad.mit.edu	37	8	121554095	121554095	+	Silent	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:121554095T>A	ENST00000395601.3	-	7	1893	c.1479A>T	c.(1477-1479)ggA>ggT	p.G493G	MTBP_ENST00000519841.1_Intron|SNTB1_ENST00000517992.1_Silent_p.G493G	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	493	SU.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.G493G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GCATCCTGATTCCATCATCTG	0.363													10	219	---	---	---	---	0	0
FAM83A	84985	broad.mit.edu	37	8	124219675	124219675	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:124219675C>T	ENST00000518448.1	+	5	3066	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.A351V|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	351	Ser-rich.							p.A351V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTGTGTCCGCGTCTTCAGGG	0.731													6	28	---	---	---	---	0	0
AGO2	27161	broad.mit.edu	37	8	141567320	141567320	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:141567320C>T	ENST00000220592.5	-	8	1006	c.894G>A	c.(892-894)caG>caA	p.Q298Q	AGO2_ENST00000519980.1_Silent_p.Q298Q	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2									p.Q298Q(2)									GCCCGCTCTCCTGCTGCAGCG	0.592													6	286	---	---	---	---	0	0
TSTA3	7264	broad.mit.edu	37	8	144696809	144696809	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:144696809A>C	ENST00000425753.2	-	5	552	c.449T>G	c.(448-450)aTc>aGc	p.I150S	TSTA3_ENST00000529064.1_Missense_Mutation_p.I150S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	150					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	p.I150S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CTGCACGTCGATCATCCTCTT	0.662													27	119	---	---	---	---	0	0
KANK1	23189	broad.mit.edu	37	9	711931	711931	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:711931T>C	ENST00000382303.1	+	7	1817	c.1165T>C	c.(1165-1167)Tcc>Ccc	p.S389P	KANK1_ENST00000382293.3_Missense_Mutation_p.S231P|KANK1_ENST00000382297.2_Missense_Mutation_p.S389P|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	389					negative regulation of actin filament polymerization	cytoplasm		p.S231P(2)|p.S389P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTGTGAGGCCTCCTCAGAGCT	0.577													22	68	---	---	---	---	0	0
TAF1L	138474	broad.mit.edu	37	9	32632549	32632549	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:32632549G>A	ENST00000242310.4	-	1	3118	c.3029C>T	c.(3028-3030)aCa>aTa	p.T1010I		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1010					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.T1010I(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTCTGCATCTGTTCCTGTCAC	0.458													154	334	---	---	---	---	0	0
KIF24	347240	broad.mit.edu	37	9	34257426	34257426	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:34257426C>T	ENST00000379166.2	-	11	2298	c.2179G>A	c.(2179-2181)Gcc>Acc	p.A727T	KIF24_ENST00000345050.2_Missense_Mutation_p.A593T|KIF24_ENST00000379174.3_Missense_Mutation_p.A593T|KIF24_ENST00000402558.2_Missense_Mutation_p.A727T	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	727					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A209T(1)|p.A727T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTGTGGTGGGCGTTGCCAAAG	0.567													134	303	---	---	---	---	0	0
SPAG6	9576	broad.mit.edu	37	10	22690118	22690118	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:22690118A>G	ENST00000376603.2	+	9	1596	c.1454A>G	c.(1453-1455)cAa>cGa	p.Q485R	SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376601.1_Missense_Mutation_p.Q170R|SPAG6_ENST00000313311.6_Missense_Mutation_p.Q409R|SPAG6_ENST00000376624.3_Missense_Mutation_p.Q409R|SPAG6_ENST00000538630.1_Missense_Mutation_p.Q384R|RP11-301N24.3_ENST00000422675.1_RNA			O75602	SPAG6_HUMAN	sperm associated antigen 6	409					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	p.Q409R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AATATCCTGCAAAAATGTACC	0.348													11	124	---	---	---	---	0	0
RBP3	5949	broad.mit.edu	37	10	48390797	48390797	+	Silent	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:48390797C>A	ENST00000224600.4	-	1	194	c.81G>T	c.(79-81)ctG>ctT	p.L27L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	27	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L27L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGTCCAGCACCAGGCTTGGCT	0.602													23	64	---	---	---	---	0	0
ZNF518A	9849	broad.mit.edu	37	10	97918959	97918959	+	RNA	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:97918959G>C	ENST00000534948.1	+	0	3737							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L960F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CACTTCCATTGGTTAATTCAC	0.363													55	262	---	---	---	---	0	0
OR5P2	120065	broad.mit.edu	37	11	7818051	7818051	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:7818051C>A	ENST00000329434.2	-	1	469	c.439G>T	c.(439-441)Gct>Tct	p.A147S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A147S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAAACCAGCTATGTAAACT	0.403													42	137	---	---	---	---	0	0
CHRDL2	25884	broad.mit.edu	37	11	74421957	74421957	+	Silent	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:74421957G>T	ENST00000376332.3	-	4	865	c.369C>A	c.(367-369)atC>atA	p.I123I	CHRDL2_ENST00000263671.5_Silent_p.I123I|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	123	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		p.I123I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GGGCACTGAAGATCTCTCCGT	0.622													6	54	---	---	---	---	0	0
INTS4	92105	broad.mit.edu	37	11	77702308	77702308	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:77702308G>C	ENST00000534064.1	-	2	126	c.92C>G	c.(91-93)aCa>aGa	p.T31R	INTS4_ENST00000529807.1_Missense_Mutation_p.T31R|INTS4_ENST00000527522.1_Missense_Mutation_p.T31R	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	31					snRNA processing	integrator complex	protein binding	p.T31R(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ACTTGGTTTTGTTAGTCGGAG	0.443													50	125	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92570900	92570900	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:92570900C>T	ENST00000298047.6	+	16	10313	c.10296C>T	c.(10294-10296)gtC>gtT	p.V3432V	FAT3_ENST00000409404.2_Silent_p.V3432V|FAT3_ENST00000525166.1_Silent_p.V3282V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3432	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V3432V(2)|p.V7V(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCAACTGTCAACATTGATA	0.463										TCGA Ovarian(4;0.039)			32	66	---	---	---	---	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832589	101832589	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:101832589T>C	ENST00000263468.8	+	6	1093	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S76P	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	275			S -> Y (in dbSNP:rs11225089).				protein binding	p.S275P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCATTCCACATCCATCCAGCG	0.373													42	90	---	---	---	---	0	0
ANO4	121601	broad.mit.edu	37	12	101473041	101473041	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:101473041G>C	ENST00000392979.3	+	14	1639	c.1278G>C	c.(1276-1278)tgG>tgC	p.W426C	ANO4_ENST00000299222.9_Missense_Mutation_p.W28C|ANO4_ENST00000550015.1_Missense_Mutation_p.W28C|ANO4_ENST00000392977.3_Missense_Mutation_p.W461C	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	461						chloride channel complex	chloride channel activity	p.W426C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGATAGACTGGGAAGAAGAGG	0.433										HNSCC(74;0.22)			63	159	---	---	---	---	0	0
TMEM255B	348013	broad.mit.edu	37	13	114514745	114514745	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr13:114514745C>T	ENST00000375353.3	+	9	877	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1			transmembrane protein 255B									p.L284L(1)									CTCCTCTGCCCTGGCTTCGTC	0.657													39	107	---	---	---	---	0	0
PRMT5	10419	broad.mit.edu	37	14	23398392	23398392	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:23398392T>A	ENST00000397441.2	-	1	218	c.43A>T	c.(43-45)Atc>Ttc	p.I15F	PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000216350.8_Missense_Mutation_p.I15F|PRMT5_ENST00000397440.4_Missense_Mutation_p.I15F	NM_001039619.1	NP_001034708.1	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	0					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.I15F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTCTCCGGGATGACTAGTCTG	0.627													41	91	---	---	---	---	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885319	24885319	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:24885319G>C	ENST00000382554.3	+	9	4682	c.4364G>C	c.(4363-4365)tGg>tCg	p.W1455S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1455					DNA integration	integral to membrane	DNA binding	p.W1455S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGTGGGCAGTGGTGGAGTTTG	0.592													36	62	---	---	---	---	0	0
FSCB	84075	broad.mit.edu	37	14	44976183	44976183	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:44976183C>A	ENST00000340446.4	-	1	299	c.8G>T	c.(7-9)gGc>gTc	p.G3V		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	3						cilium		p.G3V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGGGATTTGCCTACCATTGG	0.413													105	274	---	---	---	---	0	0
FANCM	57697	broad.mit.edu	37	14	45639925	45639925	+	Silent	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:45639925T>G	ENST00000267430.5	+	12	2221	c.2136T>G	c.(2134-2136)tcT>tcG	p.S712S	FANCM_ENST00000542564.2_Silent_p.S686S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	712					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.S712S(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGTTTTCTTCTTTACAAAATG	0.323								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				62	122	---	---	---	---	0	0
PCNX	22990	broad.mit.edu	37	14	71514563	71514563	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:71514563G>A	ENST00000304743.2	+	22	4646	c.4200G>A	c.(4198-4200)ttG>ttA	p.L1400L	PCNX_ENST00000439984.3_Silent_p.L1289L|PCNX_ENST00000238570.5_Silent_p.L1400L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1400						integral to membrane		p.L1400L(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTTGAAGTTGCTACGATCCT	0.373													46	233	---	---	---	---	0	0
ZNF410	57862	broad.mit.edu	37	14	74370665	74370665	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:74370665G>A	ENST00000555044.1	+	6	777	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000540593.1_Missense_Mutation_p.E122K|ZNF410_ENST00000324593.6_Missense_Mutation_p.E195K|ZNF410_ENST00000442160.3_Missense_Mutation_p.E212K|ZNF410_ENST00000334521.4_Missense_Mutation_p.E142K|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.5_ENST00000554009.1_RNA	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E195K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TGTTACAGGAGAAAATGTCCA	0.428													39	105	---	---	---	---	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294750	77294750	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:77294750C>A	ENST00000393774.3	+	2	329	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	C14orf166B_ENST00000450042.2_Missense_Mutation_p.L52M|C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Missense_Mutation_p.L26M	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	69								p.L69M(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAAACAGACCTGGAGATTGA	0.532													27	89	---	---	---	---	0	0
AQR	9716	broad.mit.edu	37	15	35185937	35185937	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185937G>A	ENST00000156471.5	-	23	2723	c.2498C>T	c.(2497-2499)gCa>gTa	p.A833V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	833						catalytic step 2 spliceosome	RNA binding	p.A833V(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GATCTGAACTGCCACATCTGT	0.413													70	144	---	---	---	---	0	0
AQR	9716	broad.mit.edu	37	15	35185970	35185970	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185970A>C	ENST00000156471.5	-	23	2690	c.2465T>G	c.(2464-2466)gTg>gGg	p.V822G		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	822						catalytic step 2 spliceosome	RNA binding	p.V822G(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGGTGGGCCCACAACCTAAAA	0.393													41	123	---	---	---	---	0	0
TTBK2	146057	broad.mit.edu	37	15	43044437	43044437	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:43044437G>C	ENST00000267890.6	-	14	3115	c.3007C>G	c.(3007-3009)Cta>Gta	p.L1003V		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1003					cell death		ATP binding|protein serine/threonine kinase activity	p.L1003V(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTCTCCTCTAGCAATTTATCA	0.468													13	150	---	---	---	---	0	0
UNC13C	440279	broad.mit.edu	37	15	54305247	54305247	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:54305247G>T	ENST00000545554.1	+	1	147	c.147G>T	c.(145-147)caG>caT	p.Q49H	UNC13C_ENST00000260323.11_Missense_Mutation_p.Q49H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q49H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	49					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q49H(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGCTGGCCAGACCAAATCCC	0.398													43	82	---	---	---	---	0	0
IGDCC3	9543	broad.mit.edu	37	15	65623027	65623027	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:65623027C>G	ENST00000327987.4	-	10	1865	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	538	Fibronectin type-III 2.							p.Q538H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCACAGCAGCTGCAAGGAGG	0.657													9	22	---	---	---	---	0	0
VWA9	81556	broad.mit.edu	37	15	65890710	65890710	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:65890710G>C	ENST00000395644.4	-	6	1032	c.697C>G	c.(697-699)Cct>Gct	p.P233A	VWA9_ENST00000313182.2_Missense_Mutation_p.P233A|VWA9_ENST00000569491.1_Missense_Mutation_p.P184A|VWA9_ENST00000567744.1_Missense_Mutation_p.P269A|VWA9_ENST00000420799.2_Missense_Mutation_p.P176A|VWA9_ENST00000442903.3_Missense_Mutation_p.P197A|VWA9_ENST00000431261.2_Missense_Mutation_p.P154A					von Willebrand factor A domain containing 9									p.P233A(1)									ACAACAAAAGGTTCTGGCCTG	0.363													47	100	---	---	---	---	0	0
CSPG4	1464	broad.mit.edu	37	15	75981610	75981610	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:75981610G>C	ENST00000308508.5	-	3	1888	c.1796C>G	c.(1795-1797)tCt>tGt	p.S599C		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	599	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.S599C(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGGAGGCCAGAGGAGGTGCC	0.672													8	54	---	---	---	---	0	0
IQGAP1	8826	broad.mit.edu	37	15	91016148	91016148	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:91016148T>A	ENST00000268182.5	+	19	2379	c.2255T>A	c.(2254-2256)cTg>cAg	p.L752Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.L180Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	752	IQ 1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.L752Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCACCAGGCTGCAGGCTCGC	0.498													63	123	---	---	---	---	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498984	31498984	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:31498984C>G	ENST00000330498.3	+	7	808	c.789C>G	c.(787-789)taC>taG	p.Y263*	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	263					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.Y263*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CCGACTCCTACCACCTGCTCC	0.652													10	89	---	---	---	---	0	0
LRRC36	55282	broad.mit.edu	37	16	67405081	67405081	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:67405081G>C	ENST00000329956.6	+	9	1449	c.1430G>C	c.(1429-1431)tGg>tCg	p.W477S	LRRC36_ENST00000290940.7_Missense_Mutation_p.W209S|LRRC36_ENST00000563189.1_Missense_Mutation_p.W356S|LRRC36_ENST00000435835.3_Missense_Mutation_p.W356S|LRRC36_ENST00000541146.1_Start_Codon_SNP_p.M1I	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	477								p.W477S(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GGATTCAAATGGAAGGACAAT	0.463													25	238	---	---	---	---	0	0
BCL6B	255877	broad.mit.edu	37	17	6930071	6930071	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:6930071C>G	ENST00000293805.5	+	7	1194	c.1102C>G	c.(1102-1104)Cca>Gca	p.P368A		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	368						nucleus	zinc ion binding	p.P368A(2)		skin(1)	1						TTTTAACCGGCCAGCAAACCT	0.577													8	103	---	---	---	---	0	0
FOXN1	8456	broad.mit.edu	37	17	26851604	26851604	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:26851604C>T	ENST00000226247.2	+	2	236	c.207C>T	c.(205-207)cgC>cgT	p.R69R	FOXN1_ENST00000579795.1_Silent_p.R69R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	69			R -> C (in dbSNP:rs2071587).		defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R69R(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACAGCCCCCGCATTGCGTCAC	0.652													51	107	---	---	---	---	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072056	34072056	+	Silent	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:34072056C>A	ENST00000254466.6	-	6	2487	c.2460G>T	c.(2458-2460)ctG>ctT	p.L820L	GAS2L2_ENST00000587565.1_Silent_p.L804L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	820					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTGCTGCCCAGCACAGCTC	0.622													5	232	---	---	---	---	0	0
CSF3	1440	broad.mit.edu	37	17	38172080	38172080	+	Silent	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:38172080A>G	ENST00000331769.2	+	1	381	c.165A>G	c.(163-165)gcA>gcG	p.A55A	CSF3_ENST00000394149.3_Silent_p.A59A|CSF3_ENST00000577675.1_Silent_p.A55A|CSF3_ENST00000225474.2_Silent_p.A59A|CSF3_ENST00000394148.3_Silent_p.A59A			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	59					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	p.A55A(1)		endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCGATGGCGCAGCGCTCCAGG	0.642													5	42	---	---	---	---	0	0
ACTG1	71	broad.mit.edu	37	17	79478427	79478427	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:79478427C>T	ENST00000575842.1	-	3	1015	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	ACTG1_ENST00000575087.1_Missense_Mutation_p.G197S|ACTG1_ENST00000573283.1_Missense_Mutation_p.G197S|ACTG1_ENST00000331925.2_Missense_Mutation_p.G197S			P63261	ACTG_HUMAN	actin, gamma 1	197					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.G197S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			AAGCTGTAGCCTCGCTCAGTG	0.642													39	86	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9071591	9071591	+	Silent	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:9071591G>T	ENST00000397910.4	-	3	16058	c.15855C>A	c.(15853-15855)ccC>ccA	p.P5285P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5287	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5285P(2)|p.P918P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGTCCAAGGGAAGGGTAC	0.522													43	118	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9071592	9071592	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:9071592G>T	ENST00000397910.4	-	3	16057	c.15854C>A	c.(15853-15855)cCc>cAc	p.P5285H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5287	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5285H(2)|p.P918H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGTCCAAGGGAAGGGTACT	0.517													44	117	---	---	---	---	0	0
FAM71E1	112703	broad.mit.edu	37	19	50979132	50979132	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:50979132G>A	ENST00000600100.1	-	2	682	c.318C>T	c.(316-318)gaC>gaT	p.D106D	FAM71E1_ENST00000595790.1_Silent_p.D106D			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	106								p.D106D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		CCCGAAACTGGTCGAATTCGC	0.627													12	48	---	---	---	---	0	0
BANF2	140836	broad.mit.edu	37	20	17716422	17716422	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr20:17716422A>C	ENST00000246090.5	+	4	501	c.239A>C	c.(238-240)cAc>cCc	p.H80P	BANF2_ENST00000467330.1_3'UTR|BANF2_ENST00000545418.2_Missense_Mutation_p.H87P|BANF2_ENST00000377805.3_Missense_Mutation_p.H80P	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	80						cytoplasm|nucleus	DNA binding	p.H80P(1)		large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CAGACTTCTCACTGCCTCAAG	0.542													37	86	---	---	---	---	0	0
SLC35C2	51006	broad.mit.edu	37	20	44979077	44979077	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr20:44979077C>A	ENST00000372227.1	-	10	1594	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y	SLC35C2_ENST00000317734.8_Missense_Mutation_p.D331Y|SLC35C2_ENST00000372229.1_Missense_Mutation_p.D219Y|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000543605.1_Missense_Mutation_p.D381Y|SLC35C2_ENST00000243896.2_Missense_Mutation_p.D352Y|SLC35C2_ENST00000372230.5_Missense_Mutation_p.D352Y	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	352					transport	integral to membrane		p.D352Y(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TCCTCATTGTCACCTTCCTCC	0.642													33	135	---	---	---	---	0	0
TPTE	7179	broad.mit.edu	37	21	10921956	10921956	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr21:10921956G>C	ENST00000298232.7	-	17	1380	c.1013C>G	c.(1012-1014)tCt>tGt	p.S338C	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S318C|TPTE_ENST00000361285.4_Missense_Mutation_p.S356C	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	356	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S338Y(1)|p.S356Y(1)|p.S338C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACATATTTCAGAGGCAATAAG	0.343													28	170	---	---	---	---	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458475	20458475	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:20458475C>T	ENST00000426804.1	-	1	3311	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R		NM_015672.1	NP_056487.1			RIMS binding protein 3									p.G943R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGGCACAGCCCTCTGTCCACC	0.577													19	84	---	---	---	---	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658215	46658215	+	Silent	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:46658215G>T	ENST00000253255.5	-	1	1004	c.1005C>A	c.(1003-1005)tcC>tcA	p.S335S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	335	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.S335S(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCGCCTGCAGGGAACTCCTGA	0.552													50	196	---	---	---	---	0	0
EFCAB7	84455	broad.mit.edu	37	1	63999825	63999825	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:63999825A>C	ENST00000371088.4	+	6	988	c.742A>C	c.(742-744)Aca>Cca	p.T248P		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	248			T -> I (in dbSNP:rs6693255).				calcium ion binding	p.T248P(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TGTTTCCTTCACAGTTACCAT	0.358													64	121	---	---	---	---	0	0
DPYD	1806	broad.mit.edu	37	1	97564128	97564128	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:97564128T>C	ENST00000370192.3	-	21	2783	c.2683A>G	c.(2683-2685)Att>Gtt	p.I895V	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	895					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.I895V(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCAGTCTAATCTTGTTTTCT	0.363													68	131	---	---	---	---	0	0
TSPAN2	10100	broad.mit.edu	37	1	115601593	115601593	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:115601593G>T	ENST00000369516.2	-	5	386	c.355C>A	c.(355-357)Cat>Aat	p.H119N	TSPAN2_ENST00000369514.2_Missense_Mutation_p.H119N|TSPAN2_ENST00000369515.2_Missense_Mutation_p.H94N	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	119						integral to membrane		p.H119N(1)		central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GTCTGAACATGTCGGATAGCC	0.418													6	325	---	---	---	---	0	0
CHD1L	9557	broad.mit.edu	37	1	146731533	146731533	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:146731533G>T	ENST00000369258.4	+	6	557	c.537G>T	c.(535-537)ttG>ttT	p.L179F	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L179F	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	179	Helicase ATP-binding.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.L179F(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CTCACAGGTTGAAAAACCAAA	0.358													152	308	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	186077666	186077666	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:186077666A>C	ENST00000271588.4	+	71	11155	c.10926A>C	c.(10924-10926)gaA>gaC	p.E3642D	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3642D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3642	Ig-like C2-type 35.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACATTGGAATGCAAGTCAG	0.423													3	139	---	---	---	---	0	0
CFH	3075	broad.mit.edu	37	1	196658588	196658588	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:196658588C>G	ENST00000367429.4	+	8	1243	c.1003C>G	c.(1003-1005)Cta>Gta	p.L335V	CFH_ENST00000359637.2_Missense_Mutation_p.L271V|CFH_ENST00000439155.2_Missense_Mutation_p.L335V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	335	Sushi 6.				complement activation, alternative pathway	extracellular space		p.L335V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACATGGAGGTCTATATCATGA	0.308													9	150	---	---	---	---	0	0
C1orf116	79098	broad.mit.edu	37	1	207195634	207195634	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:207195634C>A	ENST00000359470.5	-	4	1724	c.1475G>T	c.(1474-1476)aGc>aTc	p.S492I	C1orf116_ENST00000461135.2_Missense_Mutation_p.S246I	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	492						cytoplasm|plasma membrane	receptor activity	p.S492T(1)|p.S492I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGGTAGCTGCTCAGTCCCAC	0.542													3	41	---	---	---	---	0	0
TARBP1	6894	broad.mit.edu	37	1	234556448	234556448	+	Splice_Site	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:234556448C>T	ENST00000040877.1	-	21	3554	c.3555G>A	c.(3553-3555)caG>caA	p.Q1185Q		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1185					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AATATGATACCTGGTCAAGTC	0.338													49	96	---	---	---	---	0	0
PDIA6	10130	broad.mit.edu	37	2	10933278	10933278	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:10933278G>C	ENST00000404371.2	-	7	890	c.553C>G	c.(553-555)Cag>Gag	p.Q185E	PDIA6_ENST00000381611.4_Missense_Mutation_p.Q138E|PDIA6_ENST00000540494.1_Missense_Mutation_p.Q130E|PDIA6_ENST00000404824.2_Missense_Mutation_p.Q181E|PDIA6_ENST00000272227.3_Missense_Mutation_p.Q133E	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	133	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.Q133E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TTCACGAGCTGGCGCAGAGCA	0.522													18	68	---	---	---	---	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135922225	135922225	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:135922225G>A	ENST00000264158.8	+	23	2711	c.2668G>A	c.(2668-2670)Gct>Act	p.A890T	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A890T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A846T|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	890						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	p.A890T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGAGGACATGCTGGCAGGAT	0.488													20	44	---	---	---	---	0	0
ERBB4	2066	broad.mit.edu	37	2	212251657	212251657	+	Silent	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:212251657C>A	ENST00000342788.4	-	27	3712	c.3402G>T	c.(3400-3402)gtG>gtT	p.V1134V	ERBB4_ENST00000436443.1_Silent_p.V1118V|ERBB4_ENST00000402597.1_Silent_p.V1124V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1134					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V1134V(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGGGGCAAACACGGTGGGGT	0.522										TSP Lung(8;0.080)			54	124	---	---	---	---	0	0
RHBDD1	84236	broad.mit.edu	37	2	227729679	227729679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:227729679G>A	ENST00000392062.2	+	4	794	c.270G>A	c.(268-270)tgG>tgA	p.W90*	RHBDD1_ENST00000341329.3_Nonsense_Mutation_p.W90*	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	90						integral to membrane	serine-type endopeptidase activity	p.W90*(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CCATGCTCTGGAAAGGAATAA	0.423													7	329	---	---	---	---	0	0
RHBDD1	84236	broad.mit.edu	37	2	227729702	227729702	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:227729702G>C	ENST00000392062.2	+	4	817	c.293G>C	c.(292-294)aGa>aCa	p.R98T	RHBDD1_ENST00000341329.3_Missense_Mutation_p.R98T	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	98						integral to membrane	serine-type endopeptidase activity	p.R98T(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CTAGAAAGAAGACTGGGAAGT	0.423													8	330	---	---	---	---	0	0
PASK	23178	broad.mit.edu	37	2	242066484	242066484	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:242066484C>A	ENST00000403638.3	-	10	1937	c.1846G>T	c.(1846-1848)Gaa>Taa	p.E616*	PASK_ENST00000358649.4_Nonsense_Mutation_p.E616*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E430*|PASK_ENST00000405260.1_Nonsense_Mutation_p.E616*|PASK_ENST00000234040.4_Nonsense_Mutation_p.E616*|PASK_ENST00000539818.1_Nonsense_Mutation_p.E400*	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	616					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AAGCCCCATTCACTCCCATAG	0.662													4	156	---	---	---	---	0	0
CNTN4	152330	broad.mit.edu	37	3	2613235	2613235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:2613235C>A	ENST00000397461.1	+	3	432	c.48C>A	c.(46-48)tgC>tgA	p.C16*	CNTN4_ENST00000418658.1_Nonsense_Mutation_p.C16*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.C16*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	16					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.C16*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCATTTTGTGCCTTGCAGGTA	0.393													66	111	---	---	---	---	0	0
SETD5	55209	broad.mit.edu	37	3	9482170	9482170	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482170G>A	ENST00000402466.1	+	9	1072	c.304G>A	c.(304-306)Gag>Aag	p.E102K	SETD5_ENST00000402198.1_Missense_Mutation_p.E200K|SETD5_ENST00000407969.1_Missense_Mutation_p.E219K|SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000406341.1_Missense_Mutation_p.E200K			Q9C0A6	SETD5_HUMAN	SET domain containing 5	200								p.E200K(1)|p.E102K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTAGATGAGAATACAAC	0.433													15	39	---	---	---	---	0	0
SETD5	55209	broad.mit.edu	37	3	9482199	9482199	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482199G>A	ENST00000402466.1	+	9	1101	c.333G>A	c.(331-333)cgG>cgA	p.R111R	SETD5_ENST00000402198.1_Silent_p.R209R|SETD5_ENST00000407969.1_Silent_p.R228R|SETD5_ENST00000302463.6_Silent_p.R111R|SETD5_ENST00000406341.1_Silent_p.R209R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	209								p.R111R(1)|p.R209R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGGAAAATCGGATAAGACTAT	0.413													4	50	---	---	---	---	0	0
SETD5	55209	broad.mit.edu	37	3	9482254	9482254	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482254G>A	ENST00000402466.1	+	9	1156	c.388G>A	c.(388-390)Gat>Aat	p.D130N	SETD5_ENST00000402198.1_Missense_Mutation_p.D228N|SETD5_ENST00000407969.1_Missense_Mutation_p.D247N|SETD5_ENST00000302463.6_Missense_Mutation_p.D130N|SETD5_ENST00000406341.1_Missense_Mutation_p.D228N			Q9C0A6	SETD5_HUMAN	SET domain containing 5	228								p.D228N(1)|p.D130N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTACAGTGCAGATGTACAGAA	0.398													8	55	---	---	---	---	0	0
SETD5	55209	broad.mit.edu	37	3	9482262	9482262	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482262G>C	ENST00000402466.1	+	9	1164	c.396G>C	c.(394-396)caG>caC	p.Q132H	SETD5_ENST00000402198.1_Missense_Mutation_p.Q230H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q249H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q132H|SETD5_ENST00000406341.1_Missense_Mutation_p.Q230H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	230								p.Q230H(1)|p.Q132H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CAGATGTACAGAACGCGCTTG	0.393													11	53	---	---	---	---	0	0
U2SURP	23350	broad.mit.edu	37	3	142773862	142773862	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:142773862C>T	ENST00000397933.2	+	26	2907	c.1625C>T	c.(1624-1626)tCg>tTg	p.S542L	U2SURP_ENST00000473835.2_Missense_Mutation_p.S951L|U2SURP_ENST00000493598.2_Missense_Mutation_p.S950L			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	951	CID.				RNA processing	nucleus	nucleotide binding|RNA binding	p.S951L(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TCACCAAAATCGGAGCGATCA	0.488													10	13	---	---	---	---	0	0
ZIC1	7545	broad.mit.edu	37	3	147130364	147130364	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:147130364G>A	ENST00000282928.4	+	2	1771	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	348					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D348N(2)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TAACAGCAGCGACCGCAAGAA	0.532													39	208	---	---	---	---	0	0
AADAC	13	broad.mit.edu	37	3	151545911	151545911	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:151545911G>T	ENST00000232892.7	+	5	1277	c.1151G>T	c.(1150-1152)aGt>aTt	p.S384I	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase						positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	p.S384I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAAAATTAGTCACAGACTT	0.348													59	111	---	---	---	---	0	0
CLGN	1047	broad.mit.edu	37	4	141317358	141317358	+	Splice_Site	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:141317358C>T	ENST00000325617.5	-	9	1326	c.886G>A	c.(886-888)Gat>Aat	p.D296N	CLGN_ENST00000414773.1_Splice_Site_p.D296N|CLGN_ENST00000537281.1_Splice_Site_p.D296N	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	296					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	p.D296N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCACTTTCATCCCTGTAAATA	0.338													63	246	---	---	---	---	0	0
FGA	2243	broad.mit.edu	37	4	155507194	155507194	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:155507194T>G	ENST00000302053.3	-	5	1465	c.1387A>C	c.(1387-1389)Aaa>Caa	p.K463Q	FGA_ENST00000403106.3_Missense_Mutation_p.K463Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	463					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.K463Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTAACGGTTTTAGAGCATGAA	0.468													133	312	---	---	---	---	0	0
ARAP3	64411	broad.mit.edu	37	5	141052581	141052581	+	Splice_Site	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr5:141052581C>A	ENST00000239440.4	-	7	1157	c.1092G>T	c.(1090-1092)gaG>gaT	p.E364D	ARAP3_ENST00000513878.1_Splice_Site_p.E26D|ARAP3_ENST00000508305.1_Splice_Site_p.E286D	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	364	PH 1.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.E364D(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCCCTCACCCTCGCTCTCTG	0.607													3	37	---	---	---	---	0	0
DEK	7913	broad.mit.edu	37	6	18258550	18258550	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr6:18258550A>C	ENST00000397239.3	-	3	679	c.232T>G	c.(232-234)Ttt>Gtt	p.F78V	DEK_ENST00000244776.7_Intron	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	78					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	p.F78V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GCAATTGTAAATGGCTCTCTC	0.363			T	NUP214	AML								56	186	---	---	---	---	0	0
INTS1	26173	broad.mit.edu	37	7	1538175	1538175	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:1538175G>A	ENST00000389470.4	-	11	1681	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	INTS1_ENST00000404767.3_Missense_Mutation_p.A433V			Q8N201	INT1_HUMAN	integrator complex subunit 1	433					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.A561V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTCCTTGTGCGCGCTCAGCAG	0.647													18	22	---	---	---	---	0	0
KCND2	3751	broad.mit.edu	37	7	120381668	120381668	+	Silent	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:120381668C>A	ENST00000331113.4	+	3	2324	c.1359C>A	c.(1357-1359)ctC>ctA	p.L453L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	453					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.L453L(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ATGGTTTACTCAGTAATCAGC	0.358													30	48	---	---	---	---	0	0
MGAM	8972	broad.mit.edu	37	7	141754596	141754596	+	Silent	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:141754596C>T	ENST00000475668.2	+	27	3256	c.3202C>T	c.(3202-3204)Ctg>Ttg	p.L1068L	MGAM_ENST00000549489.2_Silent_p.L1068L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1068	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.L1068L(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCAGTCCCTCTGAACATACC	0.433													118	84	---	---	---	---	0	0
TRBV10-1	0	broad.mit.edu	37	7	142231820	142231820	+	RNA	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:142231820C>A	ENST00000390364.3	-	0	164																											CTTCCTGTCTCTGTGATCTTG	0.507													4	136	---	---	---	---	0	0
C5	727	broad.mit.edu	37	9	123805397	123805397	+	Silent	SNP	C	C	T	rs151322743	byFrequency	TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:123805397C>T	ENST00000223642.1	-	3	335	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	102					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	p.V102V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTTCCAAATACACATAAGAAA	0.299													23	80	---	---	---	---	0	0
HARBI1	283254	broad.mit.edu	37	11	46625305	46625305	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:46625305A>C	ENST00000326737.3	-	3	1072	c.825T>G	c.(823-825)gaT>gaG	p.D275E		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	275						cytoplasm|nucleus	metal ion binding|nuclease activity	p.D275E(1)		large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCTTGGATCCATCCAGGCAGC	0.517													15	33	---	---	---	---	0	0
FZD4	8322	broad.mit.edu	37	11	86662613	86662613	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662613G>A	ENST00000531380.1	-	2	1490	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	395					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.L395L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATAAGTAAAGAGGGGAGCCA	0.453													8	182	---	---	---	---	0	0
FZD4	8322	broad.mit.edu	37	11	86662648	86662648	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662648G>A	ENST00000531380.1	-	2	1455	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	384					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.L384F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGCATCGAGATTTTGGTTT	0.483													10	150	---	---	---	---	0	0
FZD4	8322	broad.mit.edu	37	11	86662880	86662880	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662880G>A	ENST00000531380.1	-	2	1223	c.918C>T	c.(916-918)ttC>ttT	p.F306F	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	306					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.F306F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACATCAGCAAGAAAATTATTG	0.448													3	86	---	---	---	---	0	0
FZD4	8322	broad.mit.edu	37	11	86663024	86663024	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86663024G>A	ENST00000531380.1	-	2	1079	c.774C>T	c.(772-774)ctC>ctT	p.L258L	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	258					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.L258L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCACATACTGAGAAATATGA	0.458													7	61	---	---	---	---	0	0
PATE2	399967	broad.mit.edu	37	11	125647403	125647403	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:125647403C>T	ENST00000358524.3	-	4	261	c.216G>A	c.(214-216)atG>atA	p.M72I	PATE2_ENST00000436890.2_Missense_Mutation_p.M29I	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	72						extracellular space		p.M72I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AATAATGATACATGCTCTGCC	0.423													33	100	---	---	---	---	0	0
VWF	7450	broad.mit.edu	37	12	6153556	6153556	+	Silent	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr12:6153556C>A	ENST00000261405.5	-	18	2597	c.2343G>T	c.(2341-2343)ctG>ctT	p.L781L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	781	Amino-terminal.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.L781L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTTCAGCCCGCAGGTTGTCAG	0.577													3	50	---	---	---	---	0	0
SLC5A8	160728	broad.mit.edu	37	12	101588917	101588917	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr12:101588917C>T	ENST00000536262.2	-	4	1051	c.493G>A	c.(493-495)Gcg>Acg	p.A165T		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	165					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.A165T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCACTACCGCGCCCCACAGA	0.403													29	38	---	---	---	---	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63858555	63858555	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr14:63858555T>C	ENST00000337537.3	-	10	1536	c.934A>G	c.(934-936)Aaa>Gaa	p.K312E	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.K236E|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.K312E	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	312					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.K312E(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTACATGTTTTAGGCCAAAAT	0.333													40	97	---	---	---	---	0	0
MIR376C	0	broad.mit.edu	37	14	101506035	101506035	+	RNA	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr14:101506035G>T	ENST00000607441.1	+	0	19					NR_029861.1																						TTAAAAGGTGGATATTCCTTC	0.383													36	69	---	---	---	---	0	0
RMDN3	55177	broad.mit.edu	37	15	41036294	41036294	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:41036294C>T	ENST00000260385.6	-	5	1928	c.861G>A	c.(859-861)atG>atA	p.M287I	RMDN3_ENST00000338376.3_Missense_Mutation_p.M287I|RMDN3_ENST00000558560.1_Intron					regulator of microtubule dynamics 3																		TGAGCTCACACATGTCACTGT	0.557													4	143	---	---	---	---	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45695108	45695108	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695108G>A	ENST00000305560.6	+	1	580	c.481G>A	c.(481-483)Gct>Act	p.A161T	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A161T	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	161						cytoplasm	ATP binding|nucleoside-triphosphatase activity	p.A161T(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TGGCCTGGTGGCTGCCTTGCA	0.711													7	37	---	---	---	---	0	0
MYO1E	4643	broad.mit.edu	37	15	59564611	59564611	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:59564611T>G	ENST00000288235.4	-	2	440	c.41A>C	c.(40-42)cAc>cCc	p.H14P		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	14	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	p.H14P(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTTGACATTGTGGCTTTGCCA	0.438													62	131	---	---	---	---	0	0
VPS33B	26276	broad.mit.edu	37	15	91549291	91549291	+	Splice_Site	SNP	T	T	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:91549291T>A	ENST00000333371.3	-	12	1206		c.e12-2		VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000535906.1_Splice_Site	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)						cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATTAAACACCTGTGAGGACAG	0.473													3	77	---	---	---	---	0	0
ITFG1	81533	broad.mit.edu	37	16	47189690	47189690	+	Splice_Site	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:47189690C>A	ENST00000320640.6	-	18	2008		c.e18-1		ITFG1_ENST00000568047.1_Splice_Site|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Splice_Site	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1							extracellular region|integral to membrane		p.?(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CATCTGCTTTCTGAAAAAGAA	0.333													132	275	---	---	---	---	0	0
HOXB2	3212	broad.mit.edu	37	17	46622154	46622154	+	Silent	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:46622154C>G	ENST00000330070.4	-	1	1287	c.120G>C	c.(118-120)tcG>tcC	p.S40S	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	40					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S40S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GAATTAATGTCGACTCCTTGA	0.557													11	126	---	---	---	---	0	0
SOGA2	23255	broad.mit.edu	37	18	8798101	8798101	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr18:8798101C>A	ENST00000359865.3	+	10	2390	c.2248C>A	c.(2248-2250)Cat>Aat	p.H750N	SOGA2_ENST00000306329.11_Missense_Mutation_p.H1069N|SOGA2_ENST00000400050.3_Missense_Mutation_p.H709N|SOGA2_ENST00000306285.7_Missense_Mutation_p.H65N|SOGA2_ENST00000517570.1_Missense_Mutation_p.H709N|SOGA2_ENST00000518815.1_Missense_Mutation_p.H65N	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1060								p.H750N(1)									TCAGGGTGAACATCCAGAGAC	0.547													3	59	---	---	---	---	0	0
SERPINB2	5055	broad.mit.edu	37	18	61558743	61558743	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr18:61558743C>G	ENST00000457692.1	+	3	398	c.65C>G	c.(64-66)gCa>gGa	p.A22G	SERPINB2_ENST00000299502.4_Missense_Mutation_p.A22G	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	22					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.A22G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTGGCAAAAGCAAGCCCCACC	0.502													41	36	---	---	---	---	0	0
DUS3L	56931	broad.mit.edu	37	19	5787682	5787682	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:5787682C>T	ENST00000309061.7	-	6	1226	c.1130G>A	c.(1129-1131)tGt>tAt	p.C377Y	DUS3L_ENST00000320699.8_Missense_Mutation_p.C135Y	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	377					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	p.C377Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGCTCGGCACACTTGGTCAT	0.627													64	139	---	---	---	---	0	0
EMR3	84658	broad.mit.edu	37	19	14758071	14758071	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:14758071C>A	ENST00000253673.5	-	8	904	c.804G>T	c.(802-804)caG>caT	p.Q268H	EMR3_ENST00000443157.2_Missense_Mutation_p.Q142H|EMR3_ENST00000344373.4_Missense_Mutation_p.Q216H|EMR3_ENST00000599900.1_Missense_Mutation_p.Q53H	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	268					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CACTCACAACCTGAGAGTTCA	0.423													5	294	---	---	---	---	0	0
SRMS	6725	broad.mit.edu	37	20	62172641	62172641	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr20:62172641C>G	ENST00000217188.1	-	7	1228	c.1188G>C	c.(1186-1188)gaG>gaC	p.E396D		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	396	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity	p.E396D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AATTGGCCGCCTCAGGCGCTG	0.617													45	229	---	---	---	---	0	0
GPR174	84636	broad.mit.edu	37	X	78426887	78426887	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:78426887A>G	ENST00000276077.1	+	1	419	c.383A>G	c.(382-384)gAc>gGc	p.D128G		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	128						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.D128G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CGCTTCCATGACTGCAAACAG	0.458										HNSCC(63;0.18)			124	63	---	---	---	---	0	0
PNMA5	114824	broad.mit.edu	37	X	152158951	152158951	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:152158951T>G	ENST00000439251.1	-	2	1630	c.1192A>C	c.(1192-1194)Agt>Cgt	p.S398R	PNMA5_ENST00000452693.1_Missense_Mutation_p.S398R|PNMA5_ENST00000361887.5_Missense_Mutation_p.S398R|PNMA5_ENST00000535214.1_Missense_Mutation_p.S398R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	398					apoptosis			p.S398R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTTTCACTGCCTAACAGC	0.597													74	42	---	---	---	---	0	0
MT-ND5	4540	broad.mit.edu	37	M	14097	14097	+	Silent	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrM:14097C>T	ENST00000361567.2	+	1	1761	c.1761C>T	c.(1759-1761)taC>taT	p.Y587Y				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	587					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	ATTAAACTTTACTTCCTCTCT	0.388													25	2	---	---	---	---	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1148405	1148405	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:1148405T>G	ENST00000379236.3	-	3	341	c.337A>C	c.(337-339)Acc>Ccc	p.T113P	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	113					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGGCTGGGTGCCCGCCCGG	0.692													6	29	---	---	---	---	0	0
KIF1B	23095	broad.mit.edu	37	1	10292482	10292482	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:10292482C>T	ENST00000377086.1	+	2	298	c.96C>T	c.(94-96)ggC>ggT	p.G32G	KIF1B_ENST00000377081.1_Silent_p.G32G|KIF1B_ENST00000377083.1_Silent_p.G32G|KIF1B_ENST00000263934.6_Silent_p.G32G|KIF1B_ENST00000377093.4_Silent_p.G32G			O60333	KIF1B_HUMAN	kinesin family member 1B	32	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.G32G(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGATGCAAGGCAACTCGACCA	0.458													6	28	---	---	---	---	0	0
MASP2	10747	broad.mit.edu	37	1	11090302	11090302	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:11090302A>T	ENST00000400897.3	-	10	1243	c.1228T>A	c.(1228-1230)Tat>Aat	p.Y410N	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	410	Sushi 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	p.Y410N(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCACACACATATTTACCTGCA	0.393													23	139	---	---	---	---	0	0
HTR6	3362	broad.mit.edu	37	1	20005147	20005147	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:20005147C>A	ENST00000289753.1	+	2	1269	c.802C>A	c.(802-804)Ctg>Atg	p.L268M		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	268					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GAAGGCCAGCCTGACGCTGGG	0.622													4	105	---	---	---	---	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484152	45484152	+	Silent	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:45484152G>A	ENST00000359600.5	-	14	3737	c.3532C>T	c.(3532-3534)Ctg>Ttg	p.L1178L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1178							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CGCACCAGCAGCATCAACTTT	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	243	---	---	---	---	0	0
GSTM2	2946	broad.mit.edu	37	1	110217403	110217403	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:110217403G>T	ENST00000241337.4	+	8	652	c.602G>T	c.(601-603)aGc>aTc	p.S201I	GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369827.3_Missense_Mutation_p.S162I	NM_000848.3	NP_000839.1			glutathione S-transferase mu 2 (muscle)									p.S201I(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		ATGAAGTCCAGCCGCTTCCTC	0.577													20	137	---	---	---	---	0	0
GSTM2	2946	broad.mit.edu	37	1	110217413	110217413	+	Silent	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:110217413C>G	ENST00000241337.4	+	8	662	c.612C>G	c.(610-612)ctC>ctG	p.L204L	GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369827.3_Silent_p.L165L	NM_000848.3	NP_000839.1			glutathione S-transferase mu 2 (muscle)									p.L204L(2)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCCGCTTCCTCCCAAGACCTG	0.582													23	146	---	---	---	---	0	0
EPRS	2058	broad.mit.edu	37	1	220205767	220205767	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:220205767C>G	ENST00000366923.3	-	5	759	c.490G>C	c.(490-492)Ggt>Cgt	p.G164R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	164	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CACTTGGTACCTACTGACTGG	0.438													4	127	---	---	---	---	0	0
DRC1	92749	broad.mit.edu	37	2	26671662	26671662	+	Silent	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:26671662T>C	ENST00000288710.2	+	11	1574	c.1500T>C	c.(1498-1500)tgT>tgC	p.C500C		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		TGCTCCTGTGTGACGAGTCGG	0.602													8	269	---	---	---	---	0	0
RTKN	6242	broad.mit.edu	37	2	74666743	74666743	+	Missense_Mutation	SNP	C	C	T	rs112456374		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:74666743C>T	ENST00000305557.5	-	2	592	c.7G>A	c.(7-9)Gac>Aac	p.D3N	RTKN_ENST00000233330.6_Intron|RTKN_ENST00000272430.5_Intron|RTKN_ENST00000484453.1_Intron	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	0					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	p.D3N(1)		endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TGCAATCTGTCCTGCATCTCT	0.577													11	48	---	---	---	---	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88870483	88870483	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:88870483T>A	ENST00000303236.3	-	14	3195	c.2894A>T	c.(2893-2895)gAt>gTt	p.D965V	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D814V|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	965	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	p.D965V(2)		ovary(3)	3						CTCTTCCTCATCCTGGTCCAT	0.463													39	252	---	---	---	---	0	0
NPAS2	4862	broad.mit.edu	37	2	101591316	101591316	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:101591316G>A	ENST00000335681.5	+	13	1477	c.1192G>A	c.(1192-1194)Ggt>Agt	p.G398S	NPAS2_ENST00000542504.1_Missense_Mutation_p.G463S|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	398					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G398S(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTCGACGTGGGTGCCTCGGG	0.532													18	82	---	---	---	---	0	0
ITGA6	0	broad.mit.edu	37	2	173349859	173349859	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:173349859G>C	ENST00000375221.2	+	14	2041	c.1838G>C	c.(1837-1839)aGa>aCa	p.R613T	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.R613T|ITGA6_ENST00000409532.1_Missense_Mutation_p.R455T|ITGA6_ENST00000343713.4_Missense_Mutation_p.R569T|ITGA6_ENST00000409080.1_Missense_Mutation_p.R574T|ITGA6_ENST00000264107.7_Missense_Mutation_p.R574T			P23229	ITA6_HUMAN	integrin, alpha 6	613					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATAATATCAGAGATAAACTG	0.428													6	171	---	---	---	---	0	0
STAT4	6775	broad.mit.edu	37	2	191897839	191897839	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:191897839T>G	ENST00000392320.2	-	21	2203	c.1889A>C	c.(1888-1890)aAa>aCa	p.K630T	STAT4_ENST00000358470.4_Missense_Mutation_p.K630T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	630	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAACCGGCCTTTATTGTAGGG	0.423													3	128	---	---	---	---	0	0
ICA1L	130026	broad.mit.edu	37	2	203661648	203661648	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:203661648T>A	ENST00000392237.2	-	11	1107	c.950A>T	c.(949-951)gAa>gTa	p.E317V	ICA1L_ENST00000358299.2_Missense_Mutation_p.E317V	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	317								p.E317V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCCAAATTCTCTCATTTG	0.279													11	86	---	---	---	---	0	0
PTH2R	5746	broad.mit.edu	37	2	209302260	209302260	+	Splice_Site	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:209302260A>T	ENST00000272847.2	+	3	391		c.e3-1		PTH2R_ENST00000413482.1_Splice_Site	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor							integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTTTCTCATTAGAAGGTAATT	0.348													4	141	---	---	---	---	0	0
ASIC4	55515	broad.mit.edu	37	2	220396491	220396491	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:220396491C>T	ENST00000358078.4	+	2	989	c.975C>T	c.(973-975)cgC>cgT	p.R325R	ASIC4_ENST00000347842.3_Silent_p.R325R|ASIC4_ENST00000473709.1_3'UTR			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	325						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TCTATACTCGCTATGGGAAGT	0.632													7	209	---	---	---	---	0	0
NDUFA10	4705	broad.mit.edu	37	2	240960668	240960668	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:240960668A>G	ENST00000252711.2	-	3	506	c.406T>C	c.(406-408)Tac>Cac	p.Y136H	NDUFA10_ENST00000404554.1_Missense_Mutation_p.Y136H|NDUFA10_ENST00000407129.3_Missense_Mutation_p.Y136H|NDUFA10_ENST00000307300.4_Missense_Mutation_p.Y136H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	136					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CGACTGCTGTACAACCAGGAC	0.498											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	97	---	---	---	---	0	0
CCR4	1233	broad.mit.edu	37	3	32995672	32995672	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:32995672G>T	ENST00000330953.5	+	2	926	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	253					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTCTTCCTTGGGTTCTGGACA	0.468													4	112	---	---	---	---	0	0
DNAH12	201625	broad.mit.edu	37	3	57488129	57488129	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:57488129C>T	ENST00000351747.2	-	10	1344	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	DNAH12_ENST00000389536.4_Silent_p.V388V|DNAH12_ENST00000311202.6_Silent_p.V388V	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	388	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V388V(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CCCAGTGTAACACGTGTTCAG	0.388													48	224	---	---	---	---	0	0
UBA5	79876	broad.mit.edu	37	3	132394111	132394111	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:132394111A>T	ENST00000356232.4	+	9	1904	c.832A>T	c.(832-834)Act>Tct	p.T278S	UBA5_ENST00000473651.1_Missense_Mutation_p.T278S|UBA5_ENST00000493720.2_Missense_Mutation_p.T278S|UBA5_ENST00000264991.4_Missense_Mutation_p.T222S|UBA5_ENST00000494238.2_Missense_Mutation_p.T222S	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	278					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAATTTTGGTACTGTTAGTTT	0.294													4	85	---	---	---	---	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133672578	133672578	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:133672578C>G	ENST00000310926.4	-	5	926	c.653G>C	c.(652-654)gGa>gCa	p.G218A	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G142A	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	218					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GAAAGCCGGTCCAAATACAGA	0.517													3	73	---	---	---	---	0	0
FAM193A	8603	broad.mit.edu	37	4	2691264	2691264	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:2691264C>A	ENST00000324666.5	+	12	1841	c.1490C>A	c.(1489-1491)aCa>aAa	p.T497K	FAM193A_ENST00000545951.1_Missense_Mutation_p.T497K|FAM193A_ENST00000505311.1_Missense_Mutation_p.T497K|FAM193A_ENST00000382839.3_Missense_Mutation_p.T497K|FAM193A_ENST00000502458.1_Missense_Mutation_p.T519K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	497										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAGAATCACACAAATAAGCAT	0.328													5	151	---	---	---	---	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170165	90170165	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:90170165C>T	ENST00000609438.1	-	2	1615	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	GPRIN3_ENST00000333209.4_Missense_Mutation_p.G366E	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3									p.G366E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGTGTGGCTCCCACTGCTGTG	0.582													34	158	---	---	---	---	0	0
FAT1	2195	broad.mit.edu	37	4	187629931	187629931	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:187629931T>C	ENST00000441802.2	-	2	1260	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	351					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.K351E(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAATGACTTTAACAGAAGAG	0.458										HNSCC(5;0.00058)			44	242	---	---	---	---	0	0
GPR111	222611	broad.mit.edu	37	6	47650245	47650245	+	Silent	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:47650245G>A	ENST00000398742.2	+	5	1795	c.1746G>A	c.(1744-1746)aaG>aaA	p.K582K	GPR111_ENST00000507065.1_Silent_p.K582K|GPR111_ENST00000296862.1_Silent_p.K650K			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	650					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAATCAGCAAGAACATCGCCA	0.507													7	104	---	---	---	---	0	0
DDX43	55510	broad.mit.edu	37	6	74107454	74107454	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:74107454A>C	ENST00000370336.4	+	2	451	c.293A>C	c.(292-294)aAc>aCc	p.N98T	DDX43_ENST00000539829.1_Missense_Mutation_p.N98T	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	98	KH.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGTACAACAAACACCACAATC	0.333													3	112	---	---	---	---	0	0
CYB5R4	51167	broad.mit.edu	37	6	84649905	84649905	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:84649905G>C	ENST00000369681.5	+	13	1379	c.1239G>C	c.(1237-1239)ttG>ttC	p.L413F	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4						cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	p.L413F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTATGCTTTGACTGATATAC	0.333													31	166	---	---	---	---	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30102304	30102304	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:30102304A>C	ENST00000449726.1	+	12	1596	c.1246A>C	c.(1246-1248)Aag>Cag	p.K416Q	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.K416Q	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	416					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	p.K416Q(2)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAAATTTTTGAAGGGATTTTT	0.343													17	139	---	---	---	---	0	0
PDE1C	5137	broad.mit.edu	37	7	31862740	31862740	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:31862740C>G	ENST00000396184.3	-	15	1733	c.1529G>C	c.(1528-1530)tGg>tCg	p.W510S	PDE1C_ENST00000321453.7_Missense_Mutation_p.W510S|PDE1C_ENST00000396182.2_Missense_Mutation_p.W510S|PDE1C_ENST00000396191.1_Missense_Mutation_p.W510S|PDE1C_ENST00000396193.1_Missense_Mutation_p.W570S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	510	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.W510S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CACTTCCGTCCAAGTAGCTTT	0.488													31	286	---	---	---	---	0	0
14-Sep	346288	broad.mit.edu	37	7	55874871	55874871	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:55874871T>C	ENST00000388975.3	-	8	1014	c.898A>G	c.(898-900)Acc>Gcc	p.T300A		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	300					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAGTGTGGGTTTTTTCTTTT	0.353													5	194	---	---	---	---	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86539226	86539226	+	Missense_Mutation	SNP	C	C	T	rs139786503	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:86539226C>T	ENST00000450689.2	-	16	2446	c.2261G>A	c.(2260-2262)gGg>gAg	p.G754E	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G514E|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G683E|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G587E	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	754						integral to membrane		p.G514E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACAAATGCCCCTACCAAATT	0.398													21	121	---	---	---	---	0	0
FSCN3	29999	broad.mit.edu	37	7	127235734	127235734	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:127235734C>G	ENST00000265825.5	+	2	737	c.518C>G	c.(517-519)cCc>cGc	p.P173R	FSCN3_ENST00000420086.2_Missense_Mutation_p.P39R	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	173						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.P173R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGCAGTTCCCTGCCTGGAG	0.602													24	128	---	---	---	---	0	0
KAT6A	7994	broad.mit.edu	37	8	41845068	41845068	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:41845068G>A	ENST00000396930.3	-	4	1157	c.614C>T	c.(613-615)cCa>cTa	p.P205L	KAT6A_ENST00000265713.2_Missense_Mutation_p.P205L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P205L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P205L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	205					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GATGGGGATTGGTTCAGCAAC	0.378													13	549	---	---	---	---	0	0
RIPK2	8767	broad.mit.edu	37	8	90802606	90802606	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:90802606T>C	ENST00000220751.4	+	11	1899	c.1585T>C	c.(1585-1587)Tca>Cca	p.S529P	RIPK2_ENST00000540020.1_Missense_Mutation_p.S392P	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	529					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			GGTTTCTAGATCACCATCTTT	0.313													7	111	---	---	---	---	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017401	93017401	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:93017401T>C	ENST00000523629.1	-	6	1137	c.683A>G	c.(682-684)gAc>gGc	p.D228G	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D228G|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D239G|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D191G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	228					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTCTGAGGAGTCAACAGGTGA	0.572													12	268	---	---	---	---	0	0
SNX31	169166	broad.mit.edu	37	8	101589258	101589258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:101589258G>A	ENST00000311812.2	-	13	1366	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q307*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	406					cell communication|protein transport		phosphatidylinositol binding	p.Q406*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGGCTTTGTTGAATGTGGTAT	0.343													52	334	---	---	---	---	0	0
GLI4	2738	broad.mit.edu	37	8	144358723	144358723	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:144358723C>A	ENST00000340042.1	+	4	965	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.P294T	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	294						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGGTGAGAAGCCCTACGCCTG	0.657													3	21	---	---	---	---	0	0
FREM1	158326	broad.mit.edu	37	9	14823308	14823308	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:14823308C>A	ENST00000380881.4	-	14	3005	c.2190G>T	c.(2188-2190)atG>atT	p.M730I	FREM1_ENST00000380880.3_Missense_Mutation_p.M729I|FREM1_ENST00000422223.2_Missense_Mutation_p.M729I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	729					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.M729I(1)|p.M730I(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCCACTTTCATATAGTTCA	0.453													74	350	---	---	---	---	0	0
TMC1	117531	broad.mit.edu	37	9	75357381	75357381	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:75357381G>A	ENST00000297784.5	+	10	1015	c.475G>A	c.(475-477)Gat>Aat	p.D159N	TMC1_ENST00000340019.3_Missense_Mutation_p.D159N|TMC1_ENST00000396237.3_Missense_Mutation_p.D159N	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	159	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane		p.D159N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTCCTCCGTGATTTTGAGAA	0.378													16	87	---	---	---	---	0	0
FGD3	89846	broad.mit.edu	37	9	95784668	95784668	+	Silent	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:95784668A>C	ENST00000375482.3	+	14	2050	c.1554A>C	c.(1552-1554)gcA>gcC	p.A518A	FGD3_ENST00000538555.1_Silent_p.A121A|FGD3_ENST00000416701.2_Silent_p.A518A|FGD3_ENST00000337352.6_Silent_p.A518A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	518					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.A518A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGGTGCAGCAGGGGTAAGTG	0.612													13	103	---	---	---	---	0	0
DDIT4	54541	broad.mit.edu	37	10	74034535	74034535	+	Silent	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:74034535G>A	ENST00000307365.3	+	3	489	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	96					apoptosis			p.L96L(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GTGCCAACCTGATGCAGCTGC	0.627											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	371	---	---	---	---	0	0
USP54	159195	broad.mit.edu	37	10	75258743	75258743	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:75258743T>C	ENST00000339859.4	-	23	4799	c.4699A>G	c.(4699-4701)Acc>Gcc	p.T1567A	RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.T608A|USP54_ENST00000428547.1_Missense_Mutation_p.T1417A|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Missense_Mutation_p.T702A|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.T1567A|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1567					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCAGTGTAGGTTAGTTGAGGA	0.532													7	419	---	---	---	---	0	0
C10orf99	387695	broad.mit.edu	37	10	85933664	85933664	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:85933664C>G	ENST00000372126.3	+	1	171	c.57C>G	c.(55-57)atC>atG	p.I19M		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	19						extracellular region		p.I19M(1)|p.I19I(1)		endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GCTTCTCCATCTTCTCCACAG	0.547													25	251	---	---	---	---	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003545	119003545	+	Missense_Mutation	SNP	C	C	G	rs140529367		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:119003545C>G	ENST00000298472.5	+	3	328	c.185C>G	c.(184-186)aCg>aGg	p.T62R	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	62					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAATCCAGACGGCCAGGCCA	0.493													3	75	---	---	---	---	0	0
ACADSB	36	broad.mit.edu	37	10	124806813	124806813	+	Splice_Site	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:124806813A>G	ENST00000358776.4	+	8	1003	c.989A>G	c.(988-990)cAg>cGg	p.Q330R	ACADSB_ENST00000368869.4_Splice_Site_p.Q228R	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	330					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TTTGATTTTCAGGTATGTAAT	0.403													3	103	---	---	---	---	0	0
ASCL3	56676	broad.mit.edu	37	11	8959683	8959683	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:8959683C>G	ENST00000325884.1	-	2	85	c.26G>C	c.(25-27)aGt>aCt	p.S9T	ASCL3_ENST00000531618.1_Missense_Mutation_p.S9T	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	8					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GTCAGGTAGACTAGAGTTGCC	0.463													5	346	---	---	---	---	0	0
TTC17	55761	broad.mit.edu	37	11	43418961	43418961	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:43418961G>C	ENST00000039989.4	+	7	852	c.838G>C	c.(838-840)Gat>Cat	p.D280H	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.D280H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	280							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTTCTCTGCTGATGCTGCTGT	0.438													11	445	---	---	---	---	0	0
OR4S2	219431	broad.mit.edu	37	11	55418545	55418545	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:55418545C>G	ENST00000312422.2	+	1	166	c.166C>G	c.(166-168)Ccc>Gcc	p.P56A		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTTAAGTCACCCATGTATTT	0.393													7	488	---	---	---	---	0	0
NPAS4	266743	broad.mit.edu	37	11	66192368	66192368	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:66192368C>T	ENST00000311034.2	+	7	2183	c.2007C>T	c.(2005-2007)gaC>gaT	p.D669D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	669					transcription, DNA-dependent		DNA binding|signal transducer activity	p.D669D(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCCCCTGGACTCCAACCTGT	0.607													46	269	---	---	---	---	0	0
LRFN4	78999	broad.mit.edu	37	11	66627358	66627358	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:66627358A>C	ENST00000309602.4	+	2	1843	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	534						integral to membrane		p.T534P(1)		breast(1)|lung(1)|prostate(1)	3						ACTGGTCTTCACTGTGGCCTT	0.721													7	27	---	---	---	---	0	0
USP35	57558	broad.mit.edu	37	11	77911274	77911274	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:77911274C>T	ENST00000529308.1	+	5	1293	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	USP35_ENST00000530267.1_Intron|USP35_ENST00000526425.1_Silent_p.F75F|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	344					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.F344F(1)|p.F100F(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACGAAGCCTTCCACCTGGTAA	0.627													12	82	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108170450	108170450	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:108170450G>C	ENST00000278616.4	+	34	5400	c.5015G>C	c.(5014-5016)gGa>gCa	p.G1672A	ATM_ENST00000452508.2_Missense_Mutation_p.G1672A	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1672					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G1672A(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGGCTGTTGGAAGCTGCTTG	0.333			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			30	209	---	---	---	---	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214315	11214315	+	Silent	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:11214315T>A	ENST00000533467.1	-	1	578	c.579A>T	c.(577-579)atA>atT	p.I193I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	193					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	p.I193I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCAGAAAAGATATCAGGGTCA	0.413													39	231	---	---	---	---	0	0
RERGL	79785	broad.mit.edu	37	12	18237549	18237549	+	Silent	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:18237549C>A	ENST00000229002.2	-	5	443	c.237G>T	c.(235-237)ggG>ggT	p.G79G	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Silent_p.G78G|RERGL_ENST00000536890.1_Intron	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	79	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CAATAACAAACCCATCTGCCC	0.408													6	235	---	---	---	---	0	0
CASC1	55259	broad.mit.edu	37	12	25264722	25264722	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:25264722A>C	ENST00000354189.5	-	14	1972	c.1937T>G	c.(1936-1938)gTt>gGt	p.V646G	CASC1_ENST00000395987.3_Missense_Mutation_p.V588G|CASC1_ENST00000545133.1_Missense_Mutation_p.V523G|CASC1_ENST00000395990.2_Missense_Mutation_p.V542G|CASC1_ENST00000320267.9_Missense_Mutation_p.V582G|CASC1_ENST00000537577.1_Missense_Mutation_p.V470G	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	582										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTTTATAATAACATAAAAATG	0.279													5	140	---	---	---	---	0	0
IPO8	10526	broad.mit.edu	37	12	30818715	30818715	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:30818715T>A	ENST00000256079.4	-	12	1624	c.1286A>T	c.(1285-1287)aAg>aTg	p.K429M	IPO8_ENST00000544829.1_Missense_Mutation_p.K224M	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	429					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.K429M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCATCTTTCTTCCTAGGGTC	0.358													22	134	---	---	---	---	0	0
IPO8	10526	broad.mit.edu	37	12	30818751	30818751	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:30818751T>A	ENST00000256079.4	-	12	1588	c.1250A>T	c.(1249-1251)tAt>tTt	p.Y417F	IPO8_ENST00000544829.1_Missense_Mutation_p.Y212F	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	417					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.Y417F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGATTTGATAACAGAATGC	0.378													28	120	---	---	---	---	0	0
EEA1	8411	broad.mit.edu	37	12	93171901	93171901	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:93171901C>T	ENST00000322349.8	-	26	3973	c.3709G>A	c.(3709-3711)Gct>Act	p.A1237T		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1237					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAAGTTTAGCCTCATTTTCT	0.373													7	295	---	---	---	---	0	0
CHFR	0	broad.mit.edu	37	12	133428223	133428223	+	Silent	SNP	C	C	T	rs142511371		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:133428223C>T	ENST00000266880.7	-	13	1569	c.1506G>A	c.(1504-1506)ccG>ccA	p.P502P	CHFR_ENST00000443047.2_Silent_p.P411P|CHFR_ENST00000450056.2_Silent_p.P491P|CHFR_ENST00000315585.7_Silent_p.P462P|CHFR_ENST00000537522.1_Silent_p.P125P|CHFR_ENST00000432561.2_Silent_p.P503P|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	503					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P462P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGGCGACACGCGGGTCCTGCT	0.657													58	292	---	---	---	---	0	0
RNASE6	6039	broad.mit.edu	37	14	21250158	21250158	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:21250158C>T	ENST00000304677.2	+	2	593	c.300C>T	c.(298-300)aaC>aaT	p.N100N		NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	100					defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		AGCCTGTCAACATGACTGACT	0.502													8	286	---	---	---	---	0	0
TRAV40	0	broad.mit.edu	37	14	22783112	22783112	+	RNA	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:22783112C>A	ENST00000390467.3	+	0	78																											AGCAGACGGGCCAAATAACCG	0.478													3	74	---	---	---	---	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693191	45693191	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:45693191G>T	ENST00000310806.4	-	11	3057	c.2599C>A	c.(2599-2601)Ccc>Acc	p.P867T		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	867					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CATTCTAAGGGATGCCTATTT	0.383													8	207	---	---	---	---	0	0
DDHD1	0	broad.mit.edu	37	14	53513502	53513502	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:53513502T>C	ENST00000357758.3	-	12	2786	c.2603A>G	c.(2602-2604)aAt>aGt	p.N868S	DDHD1_ENST00000323669.5_Missense_Mutation_p.N896S|DDHD1_ENST00000395606.1_Missense_Mutation_p.N875S	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	896	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	p.N868S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TGGATCTAAATTGGGTTTTGC	0.388													25	133	---	---	---	---	0	0
DACT1	51339	broad.mit.edu	37	14	59112942	59112942	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:59112942A>G	ENST00000395153.3	+	4	1637	c.1490A>G	c.(1489-1491)gAg>gGg	p.E497G	DACT1_ENST00000335867.4_Missense_Mutation_p.E534G|DACT1_ENST00000556859.1_Missense_Mutation_p.E253G|DACT1_ENST00000541264.2_Missense_Mutation_p.E253G	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	534					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.E534G(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCCGTGGAAGAGAGGCCTGCC	0.592													26	161	---	---	---	---	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548653	102548653	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:102548653C>T	ENST00000334701.7	-	11	2531	c.2250G>A	c.(2248-2250)atG>atA	p.M750I	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.M628I	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	628					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCTTTGCTGCCATGTAACCCA	0.448													7	394	---	---	---	---	0	0
CILP	8483	broad.mit.edu	37	15	65502037	65502037	+	Silent	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:65502037C>A	ENST00000261883.4	-	2	223	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	19					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.V19V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTATACCCAACACAGATGTGA	0.542													10	83	---	---	---	---	0	0
DENND4A	10260	broad.mit.edu	37	15	66015198	66015198	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:66015198G>T	ENST00000443035.3	-	12	1791	c.1576C>A	c.(1576-1578)Caa>Aaa	p.Q526K	DENND4A_ENST00000431932.2_Missense_Mutation_p.Q526K	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTTGCCAATTGCTGATGCAAA	0.303													3	43	---	---	---	---	0	0
IL16	3603	broad.mit.edu	37	15	81598322	81598322	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:81598322T>G	ENST00000394660.2	+	17	3854	c.3494T>G	c.(3493-3495)aTc>aGc	p.I1165S	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.I464S|IL16_ENST00000302987.4_Missense_Mutation_p.I1165S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1165	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTTCTTTCCATCAACGGCAAG	0.547													8	347	---	---	---	---	0	0
POLG	5428	broad.mit.edu	37	15	89868709	89868709	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:89868709C>T	ENST00000268124.5	-	10	2254	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	POLG_ENST00000442287.2_Missense_Mutation_p.E641K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	641					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAGCTGACTCCAGGGTGGTA	0.657								DNA polymerases (catalytic subunits)					12	194	---	---	---	---	0	0
SYT4	6860	broad.mit.edu	37	18	40853620	40853620	+	Silent	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr18:40853620T>A	ENST00000255224.3	-	2	1142	c.774A>T	c.(772-774)ctA>ctT	p.L258L	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L240L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	258	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGAGAGGAATTAGAACTTCCC	0.353													4	127	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9074121	9074121	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:9074121G>C	ENST00000397910.4	-	3	13528	c.13325C>G	c.(13324-13326)aCa>aGa	p.T4442R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4444	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGGGCTTGTCCAGGACAC	0.493													13	186	---	---	---	---	0	0
C19orf57	79173	broad.mit.edu	37	19	14015677	14015677	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:14015677G>A	ENST00000454313.1	-	2	87	c.29C>T	c.(28-30)tCa>tTa	p.S10L	C19orf57_ENST00000591586.1_Missense_Mutation_p.S10L|C19orf57_ENST00000346736.2_Missense_Mutation_p.S10L|C19orf57_ENST00000586783.1_Missense_Mutation_p.S10L			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	10					multicellular organismal development		protein binding	p.S10L(1)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAACGTACCTGAGGTCCGCAG	0.413													27	155	---	---	---	---	0	0
HAPLN4	404037	broad.mit.edu	37	19	19371864	19371864	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:19371864C>T	ENST00000291481.7	-	3	305	c.242G>A	c.(241-243)gGc>gAc	p.G81D	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	81	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.G81D(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GAGCCGGACGCCGTCGTGACC	0.667													9	49	---	---	---	---	0	0
FAM98C	147965	broad.mit.edu	37	19	38895746	38895746	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:38895746A>T	ENST00000252530.5	+	4	567	c.548A>T	c.(547-549)cAt>cTt	p.H183L	FAM98C_ENST00000343358.7_Missense_Mutation_p.H183L|FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000585954.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	183								p.H183L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGAGTTGCATGCTAAGGTA	0.627													16	66	---	---	---	---	0	0
BFSP1	631	broad.mit.edu	37	20	17475376	17475376	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:17475376C>A	ENST00000377873.3	-	8	1380	c.1341G>T	c.(1339-1341)aaG>aaT	p.K447N	BFSP1_ENST00000377868.2_Missense_Mutation_p.K322N|BFSP1_ENST00000536626.1_Missense_Mutation_p.K308N|BFSP1_ENST00000544874.1_Missense_Mutation_p.K308N	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	447	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	p.K447N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TCTCCTTGACCTTCCTGTATA	0.527													35	217	---	---	---	---	0	0
RAE1	8480	broad.mit.edu	37	20	55948566	55948566	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:55948566C>G	ENST00000395841.2	+	9	1098	c.678C>G	c.(676-678)aaC>aaG	p.N226K	RAE1_ENST00000371242.2_Missense_Mutation_p.N226K|RAE1_ENST00000527947.1_Missense_Mutation_p.N226K|RAE1_ENST00000395840.2_Missense_Mutation_p.N226K	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	226					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	p.N226K(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACAAACAGAACAAGCCTACTG	0.408													24	176	---	---	---	---	0	0
CDH4	1002	broad.mit.edu	37	20	60504782	60504782	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:60504782A>T	ENST00000360469.5	+	13	2209	c.2121A>T	c.(2119-2121)aaA>aaT	p.K707N	CDH4_ENST00000543233.1_Missense_Mutation_p.K633N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	707	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCATCATCAAAGTCAAGGTGT	0.592													5	199	---	---	---	---	0	0
SRRD	402055	broad.mit.edu	37	22	26884148	26884148	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr22:26884148G>C	ENST00000215917.7	+	3	418	c.404G>C	c.(403-405)gGa>gCa	p.G135A		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing						rhythmic process			p.G135E(1)|p.G135A(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTGGTCACAGGAACCTGCCAT	0.468													52	210	---	---	---	---	0	0
LIMK2	3985	broad.mit.edu	37	22	31667167	31667167	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr22:31667167C>A	ENST00000331728.4	+	12	1477	c.1363C>A	c.(1363-1365)Cac>Aac	p.H455N	LIMK2_ENST00000444929.2_Missense_Mutation_p.H209N|LIMK2_ENST00000340552.4_Missense_Mutation_p.H434N|LIMK2_ENST00000333611.4_Missense_Mutation_p.H434N|LIMK2_ENST00000406516.1_Missense_Mutation_p.H377N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	455	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.H455N(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TCTGAACTCGCACAACTGCCT	0.542													29	158	---	---	---	---	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821237	5821237	+	Silent	SNP	G	G	C	rs146227486		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:5821237G>C	ENST00000381095.3	-	5	2109	c.1482C>G	c.(1480-1482)ccC>ccG	p.P494P	NLGN4X_ENST00000538097.1_Silent_p.P494P|NLGN4X_ENST00000381092.1_Silent_p.P494P|NLGN4X_ENST00000381093.2_Silent_p.P514P|NLGN4X_ENST00000275857.6_Silent_p.P494P	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	494					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.P494P(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGAAGACATAGGGGACCTCAT	0.552													11	72	---	---	---	---	0	0
DMD	1756	broad.mit.edu	37	X	32380926	32380926	+	Silent	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:32380926T>C	ENST00000357033.4	-	37	5510	c.5304A>G	c.(5302-5304)tcA>tcG	p.S1768S	DMD_ENST00000378677.2_Silent_p.S1764S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1768	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAATTCTGTGTGAAATGGCTG	0.478													5	150	---	---	---	---	0	0
UBR4	23352	broad.mit.edu	37	1	19493625	19493625	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr1:19493625G>C	ENST00000375267.2	-	29	4003	c.4000C>G	c.(4000-4002)Ctg>Gtg	p.L1334V	UBR4_ENST00000375254.3_Missense_Mutation_p.L1334V|UBR4_ENST00000375226.2_Missense_Mutation_p.L1334V|UBR4_ENST00000375217.2_Missense_Mutation_p.L1334V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1334					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGCGTTCCAGGGAGTTGCTA	0.483													6	192	---	---	---	---	0	0
NCKAP1	10787	broad.mit.edu	37	2	183846059	183846059	+	Silent	SNP	A	A	G			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr2:183846059A>G	ENST00000361354.4	-	13	1626	c.1254T>C	c.(1252-1254)caT>caC	p.H418H	NCKAP1_ENST00000360982.2_Silent_p.H424H	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	p.H424H(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATTTCCTCACATGTGCTCTAA	0.328													7	109	---	---	---	---	0	0
CCDC140	151278	broad.mit.edu	37	2	223168894	223168894	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr2:223168894G>C	ENST00000295226.1	+	2	657	c.273G>C	c.(271-273)aaG>aaC	p.K91N		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	91								p.K91N(1)		endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTTTTGAAGAGTGCTGCGC	0.662													3	40	---	---	---	---	0	0
BCL6	604	broad.mit.edu	37	3	187447376	187447376	+	Missense_Mutation	SNP	T	T	C	rs139857005		TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr3:187447376T>C	ENST00000406870.2	-	5	1183	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.M273V|BCL6_ENST00000232014.4_Missense_Mutation_p.M273V|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	273					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M273V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGTAGTGCATATCACTTCGT	0.547			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								7	122	---	---	---	---	0	0
TNIP3	79931	broad.mit.edu	37	4	122075727	122075727	+	Silent	SNP	A	A	G			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr4:122075727A>G	ENST00000454328.1	-	7	698	c.471T>C	c.(469-471)tgT>tgC	p.C157C	TNIP3_ENST00000057513.3_Silent_p.C157C|TNIP3_ENST00000509841.1_Silent_p.C234C|TNIP3_ENST00000507879.1_Silent_p.C227C			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	157								p.C157C(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTTTATTTCACATTCGTAAT	0.348													7	260	---	---	---	---	0	0
TLL1	7092	broad.mit.edu	37	4	166981195	166981195	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr4:166981195T>C	ENST00000061240.2	+	15	2509	c.1862T>C	c.(1861-1863)cTt>cCt	p.L621P	TLL1_ENST00000507499.1_Missense_Mutation_p.L644P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	621	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGGTGGACTTCTTACCAAA	0.458													5	118	---	---	---	---	0	0
TNXB	7148	broad.mit.edu	37	6	32037587	32037587	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr6:32037587C>T	ENST00000375244.3	-	15	5531	c.5330G>A	c.(5329-5331)cGt>cAt	p.R1777H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H			P22105	TENX_HUMAN	tenascin XB	1859	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R1864H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGACGGGGTTTTGG	0.582													3	42	---	---	---	---	0	0
DAAM2	23500	broad.mit.edu	37	6	39832798	39832798	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr6:39832798A>G	ENST00000538976.1	+	5	558	c.376A>G	c.(376-378)Agg>Ggg	p.R126G	DAAM2_ENST00000274867.4_Missense_Mutation_p.R126G|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000398904.2_Missense_Mutation_p.R126G	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	126	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R126G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACGGAGATGAGGAACCAAGT	0.557											OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	14	---	---	---	---	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529391	5529391	+	Silent	SNP	T	T	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:5529391T>C	ENST00000311659.4	-	2	1545	c.1398A>G	c.(1396-1398)gcA>gcG	p.A466A	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	466										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAATGGCTGCCGTGGGGG	0.547													5	102	---	---	---	---	0	0
TRIM6	117854	broad.mit.edu	37	11	5632424	5632424	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:5632424A>G	ENST00000380097.3	+	8	1645	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G	AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000278302.5_Missense_Mutation_p.E440G|TRIM6_ENST00000380107.1_Missense_Mutation_p.E414G|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000515022.1_Missense_Mutation_p.E265G|TRIM6_ENST00000507320.1_Missense_Mutation_p.E265G|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Missense_Mutation_p.E265G|TRIM6_ENST00000445329.1_Missense_Mutation_p.E265G	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6									p.E468G(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTAGATTATGAGGCTGGTACT	0.433													14	316	---	---	---	---	0	0
OR5B17	219965	broad.mit.edu	37	11	58126475	58126475	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:58126475A>C	ENST00000357377.3	-	1	67	c.68T>G	c.(67-69)gTt>gGt	p.V23G		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V23G(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAGAGGGGAACCTGTAGTTC	0.438													11	166	---	---	---	---	0	0
GRIA4	0	broad.mit.edu	37	11	105774694	105774694	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:105774694G>A	ENST00000393127.2	+	8	1486	c.1040G>A	c.(1039-1041)aGg>aAg	p.R347K	GRIA4_ENST00000530497.1_Missense_Mutation_p.R347K|GRIA4_ENST00000282499.5_Missense_Mutation_p.R347K|GRIA4_ENST00000393125.2_Missense_Mutation_p.R347K|GRIA4_ENST00000525187.1_Missense_Mutation_p.R347K|GRIA4_ENST00000428631.2_Missense_Mutation_p.R347K	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	347					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GACATGGAGAGGACACTCAAA	0.398													4	111	---	---	---	---	0	0
DRD2	1813	broad.mit.edu	37	11	113295366	113295366	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:113295366G>A	ENST00000362072.3	-	2	352	c.8C>T	c.(7-9)cCa>cTa	p.P3L	DRD2_ENST00000544518.1_Missense_Mutation_p.P3L|DRD2_ENST00000346454.3_Missense_Mutation_p.P3L|DRD2_ENST00000542968.1_Missense_Mutation_p.P3L|DRD2_ENST00000355319.2_Missense_Mutation_p.P3L|DRD2_ENST00000538967.1_Missense_Mutation_p.P3L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	3					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.P3L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAGATTCAGTGGATCCATCAG	0.582													4	79	---	---	---	---	0	0
LRIG3	121227	broad.mit.edu	37	12	59267899	59267899	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr12:59267899G>A	ENST00000320743.3	-	18	3339	c.3053C>T	c.(3052-3054)tCc>tTc	p.S1018F	LRIG3_ENST00000379141.4_Missense_Mutation_p.S958F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1018						integral to membrane		p.S1018F(2)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATCTAAAGAGGACTTGTTTAG	0.403			T	ROS1	NSCLC								11	219	---	---	---	---	0	0
MED13L	23389	broad.mit.edu	37	12	116446661	116446661	+	Silent	SNP	C	C	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr12:116446661C>A	ENST00000281928.3	-	10	1763	c.1557G>T	c.(1555-1557)gtG>gtT	p.V519V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	519					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.V519V(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TACTGCTAGACACCTCTAAGG	0.453													7	97	---	---	---	---	0	0
P2RX2	0	broad.mit.edu	37	12	133197607	133197607	+	Silent	SNP	T	T	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr12:133197607T>C	ENST00000389110.3	+	8	832	c.795T>C	c.(793-795)atT>atC	p.I265I	P2RX2_ENST00000350048.5_Silent_p.I241I|P2RX2_ENST00000449132.2_Silent_p.I231I|P2RX2_ENST00000343948.4_Silent_p.I265I|P2RX2_ENST00000352418.4_Silent_p.I193I|P2RX2_ENST00000348800.5_Silent_p.I265I|P2RX2_ENST00000351222.4_Silent_p.I173I	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	265					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.I265I(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCGGGGTCATTATCAACTGGG	0.637													5	84	---	---	---	---	0	0
MTHFD1	4522	broad.mit.edu	37	14	64909059	64909059	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr14:64909059C>G	ENST00000545908.1	+	21	2472	c.2243C>G	c.(2242-2244)cCc>cGc	p.P748R	MTHFD1_ENST00000216605.8_Missense_Mutation_p.P692R|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	692	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	p.P692R(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGCCTCTGCCCCCACGTGGTG	0.527													5	154	---	---	---	---	0	0
AK7	122481	broad.mit.edu	37	14	96909069	96909069	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr14:96909069G>A	ENST00000267584.4	+	7	737	c.693G>A	c.(691-693)atG>atA	p.M231I		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	231					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.M231I(2)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTTTCAGATGGCTTGGTTGG	0.443													13	402	---	---	---	---	0	0
UBTF	7343	broad.mit.edu	37	17	42293143	42293143	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:42293143G>A	ENST00000302904.4	-	5	845	c.353C>T	c.(352-354)cCt>cTt	p.P118L	UBTF_ENST00000526094.1_Missense_Mutation_p.P118L|UBTF_ENST00000529383.1_Missense_Mutation_p.P118L|UBTF_ENST00000533177.1_Missense_Mutation_p.P118L|UBTF_ENST00000343638.5_Missense_Mutation_p.P118L|UBTF_ENST00000393606.3_Missense_Mutation_p.P118L|UBTF_ENST00000527034.1_Missense_Mutation_p.P118L|UBTF_ENST00000436088.1_Missense_Mutation_p.P118L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000537550.1_5'UTR			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	118					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	p.P118L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCGGAAATAAGGGGTCAGGGG	0.488													7	162	---	---	---	---	0	0
SAMD14	201191	broad.mit.edu	37	17	48193048	48193048	+	Silent	SNP	C	C	T			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:48193048C>T	ENST00000330175.4	-	7	1019	c.702G>A	c.(700-702)ccG>ccA	p.P234P	SAMD14_ENST00000503131.1_Silent_p.P234P	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	234										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AAGGCAGGAACGGGGAGCCCC	0.642													7	191	---	---	---	---	0	0
SGSH	6448	broad.mit.edu	37	17	78188012	78188012	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:78188012G>T	ENST00000326317.6	-	5	708	c.622C>A	c.(622-624)Cca>Aca	p.P208T	SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Silent_p.S219S|SGSH_ENST00000534910.1_Missense_Mutation_p.P5T	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	208					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	p.P208T(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTCCAGTCTGGGATACGACCC	0.667													4	31	---	---	---	---	0	0
MIIP	60672	broad.mit.edu	37	1	12090150	12090150	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:12090150T>G	ENST00000235332.4	+	8	1080	c.911T>G	c.(910-912)tTt>tGt	p.F304C	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	304								p.F304C(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGAAAGAGCTTTGACGCCTCT	0.697													14	38	---	---	---	---	0	0
EPS15	2060	broad.mit.edu	37	1	51826841	51826841	+	Splice_Site	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:51826841A>G	ENST00000371733.3	-	24	2641		c.e24+1		EPS15_ENST00000396122.4_Splice_Site|EPS15_ENST00000371730.2_Splice_Site	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)|p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CACAGTACTTACAGCACTGAA	0.358			T	MLL	ALL								40	128	---	---	---	---	0	0
CNNM4	26504	broad.mit.edu	37	2	97464910	97464910	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:97464910C>A	ENST00000377075.2	+	4	1896	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	CNNM4_ENST00000540067.1_Missense_Mutation_p.H87N|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	600					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		p.H600N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTACGCCCGCCATTACCTGTA	0.567													9	94	---	---	---	---	0	0
SCN3A	6328	broad.mit.edu	37	2	165970412	165970412	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:165970412G>T	ENST00000360093.3	-	20	4074	c.3583C>A	c.(3583-3585)Ctt>Att	p.L1195I	SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1195						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1195I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTTTCGAAGATTCCACCAG	0.343													7	289	---	---	---	---	0	0
GIGYF2	26058	broad.mit.edu	37	2	233620970	233620970	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:233620970T>C	ENST00000373566.3	+	6	502	c.305T>C	c.(304-306)cTg>cCg	p.L102P	GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	102					cell death		protein binding	p.L102P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTGCTGTCCTGCGATTGACA	0.393													3	78	---	---	---	---	0	0
AGTR1	185	broad.mit.edu	37	3	148458896	148458896	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:148458896A>C	ENST00000542281.1	+	4	520	c.74A>C	c.(73-75)aAt>aCt	p.N25T	AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T|AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000497524.1_Missense_Mutation_p.N25T|AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	25					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.N25T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGAAGGCATAATTACATATTT	0.353													24	168	---	---	---	---	0	0
DGKQ	1609	broad.mit.edu	37	4	956989	956989	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:956989G>T	ENST00000273814.3	-	16	1897	c.1824C>A	c.(1822-1824)agC>agA	p.S608R	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	608	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	p.S608R(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTTCCGGAAGCTGCAGAGCA	0.627													3	49	---	---	---	---	0	0
FRAS1	80144	broad.mit.edu	37	4	79458218	79458218	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:79458218T>A	ENST00000264895.6	+	72	11602	c.11162T>A	c.(11161-11163)cTg>cAg	p.L3721Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3716					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L3721Q(2)|p.L3722Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAACTCCAGCTGGAGAAAGTC	0.418													32	238	---	---	---	---	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303543	5303543	+	Silent	SNP	G	G	A	rs35200003		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr5:5303543G>A	ENST00000274181.7	+	19	3090	c.2952G>A	c.(2950-2952)caG>caA	p.Q984Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	984	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q984Q(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAACTCTCAGAGCTGCCCAC	0.677													4	15	---	---	---	---	0	0
BMP6	654	broad.mit.edu	37	6	7845502	7845502	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:7845502G>A	ENST00000283147.6	+	2	953	c.794G>A	c.(793-795)gGg>gAg	p.G265E		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	265					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.G265E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGTGTTATGGGGAGTTTTAAA	0.473													13	164	---	---	---	---	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740431	50740431	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:50740431A>G	ENST00000008391.3	+	8	1441	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	405	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity	p.M405V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTCAGTGAAATGCTGAACTA	0.478													33	94	---	---	---	---	0	0
FAM83B	222584	broad.mit.edu	37	6	54735045	54735045	+	Translation_Start_Site	SNP	A	A	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:54735045A>T	ENST00000306858.7	+	2	117	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	1								p.M1L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTTGCAAGCATGGAGACCTC	0.378													19	175	---	---	---	---	0	0
LGSN	51557	broad.mit.edu	37	6	63990299	63990299	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:63990299T>C	ENST00000370657.4	-	4	1190	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	386					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.Y386C(2)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTTGTCATTGTATCCCCATGT	0.468													132	299	---	---	---	---	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067240	18067240	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:18067240C>T	ENST00000506618.2	-	1	246	c.166G>A	c.(166-168)Gtt>Att	p.V56I		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	56					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.V56I(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCACTCTGAACGATGTAGACA	0.488													9	533	---	---	---	---	0	0
AKAP9	10142	broad.mit.edu	37	7	91631337	91631337	+	Silent	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:91631337A>G	ENST00000359028.2	+	9	2367	c.2142A>G	c.(2140-2142)ctA>ctG	p.L714L	AKAP9_ENST00000358100.2_Silent_p.L714L|AKAP9_ENST00000356239.3_Silent_p.L702L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	714	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.L714L(1)|p.L702L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTCAAAGCTAAAAGATTTAC	0.289			T	BRAF	papillary thyroid								3	101	---	---	---	---	0	0
STAG3	10734	broad.mit.edu	37	7	99795408	99795408	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:99795408A>T	ENST00000426455.1	+	11	1480	c.1073A>T	c.(1072-1074)gAa>gTa	p.E358V	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E300V|STAG3_ENST00000317296.5_Missense_Mutation_p.E358V	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	358	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.E358V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCACCGAGAAGTCCGCCTG	0.562													8	146	---	---	---	---	0	0
DEFB135	613209	broad.mit.edu	37	8	11841989	11841989	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr8:11841989G>T	ENST00000382208.2	+	2	124	c.124G>T	c.(124-126)Ggt>Tgt	p.G42C		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	42					defense response to bacterium	extracellular region		p.G42C(1)		endometrium(1)|large_intestine(2)|prostate(1)	4						GCGACTGCAAGGTACTTGCCG	0.383													4	136	---	---	---	---	0	0
PTDSS1	9791	broad.mit.edu	37	8	97342509	97342509	+	Splice_Site	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr8:97342509G>T	ENST00000517309.1	+	11	1568	c.1242G>T	c.(1240-1242)aaG>aaT	p.K414N	PTDSS1_ENST00000522072.1_Splice_Site_p.K211N|PTDSS1_ENST00000455950.2_Splice_Site_p.K268N	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	414					phosphatidylserine biosynthetic process	integral to membrane	transferase activity	p.K414N(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ACCGAGAAAAGGTATGGAAGG	0.473													4	93	---	---	---	---	0	0
ABHD17B	51104	broad.mit.edu	37	9	74485071	74485071	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:74485071G>A	ENST00000333421.6	-	3	686	c.575C>T	c.(574-576)tCt>tTt	p.S192F	ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192F	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B									p.S192F(1)									AGTCAGAGGAGAATGAAGAAT	0.408													74	225	---	---	---	---	0	0
TBC1D2	55357	broad.mit.edu	37	9	100995790	100995790	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:100995790C>T	ENST00000375066.5	-	4	780	c.689G>A	c.(688-690)gGa>gAa	p.G230E	TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E|TBC1D2_ENST00000375064.1_Missense_Mutation_p.G230E	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	230						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	p.G230E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ATGGCCTGTTCCCTGGGCCTG	0.587													24	245	---	---	---	---	0	0
TNC	3371	broad.mit.edu	37	9	117852969	117852969	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:117852969G>T	ENST00000350763.4	-	2	740	c.329C>A	c.(328-330)gCc>gAc	p.A110D	TNC_ENST00000346706.3_Missense_Mutation_p.A110D|TNC_ENST00000423613.2_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000542877.1_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000345230.3_Missense_Mutation_p.A110D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	110					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.A110D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACAGCCACAGGCCCGGCGGGG	0.587													64	531	---	---	---	---	0	0
NUCB2	4925	broad.mit.edu	37	11	17332484	17332484	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:17332484A>C	ENST00000529010.1	+	7	815	c.596A>C	c.(595-597)aAg>aCg	p.K199T	NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T|NUCB2_ENST00000323688.6_Missense_Mutation_p.K199T	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	199						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	p.K199T(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATGAAGAAAAGAGAAAAGAA	0.303													6	299	---	---	---	---	0	0
TMEM5	10329	broad.mit.edu	37	12	64173824	64173824	+	Silent	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:64173824C>T	ENST00000261234.6	+	1	242	c.84C>T	c.(82-84)ttC>ttT	p.F28F	RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	28						integral to plasma membrane		p.F28F(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ACCACGTCTTCTTcgggcgcc	0.716													3	29	---	---	---	---	0	0
TBC1D15	64786	broad.mit.edu	37	12	72288542	72288542	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:72288542G>A	ENST00000550746.1	+	8	849	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TBC1D15_ENST00000393309.3_Missense_Mutation_p.R16K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R253K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R245K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	262							protein binding|Rab GTPase activator activity	p.R262K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACAGTTTGAGAGGCAGCGAT	0.368													5	200	---	---	---	---	0	0
BRCA2	675	broad.mit.edu	37	13	32912796	32912796	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr13:32912796A>C	ENST00000544455.1	+	11	4531	c.4304A>C	c.(4303-4305)aAt>aCt	p.N1435T	BRCA2_ENST00000380152.3_Missense_Mutation_p.N1435T	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1435					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.N1435T(3)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTGGGAAAAATATTAGTGTC	0.284			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	237	---	---	---	---	0	0
MYH6	4624	broad.mit.edu	37	14	23866411	23866411	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:23866411C>T	ENST00000405093.3	-	17	2088	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	MYH6_ENST00000356287.3_Missense_Mutation_p.R673H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	673	Actin-binding.|Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.R673H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATGCAACGCACAAAGTG	0.542													7	305	---	---	---	---	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724734	38724734	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:38724734C>A	ENST00000342213.2	-	1	840	c.494G>T	c.(493-495)cGc>cTc	p.R165L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	165	C-type lectin.					integral to membrane	sugar binding	p.R165L(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCCGTTGGCGCGCAGGTGGCA	0.682													16	52	---	---	---	---	0	0
ARG2	384	broad.mit.edu	37	14	68113409	68113409	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:68113409G>C	ENST00000261783.3	+	5	751	c.571G>C	c.(571-573)Gca>Cca	p.A191P	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	191					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	p.A191P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TATCTCTTCTGCAAGTATTGT	0.423													7	239	---	---	---	---	0	0
SETD1A	9739	broad.mit.edu	37	16	30991347	30991347	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:30991347G>A	ENST00000262519.8	+	14	4926	c.4240G>A	c.(4240-4242)Gcc>Acc	p.A1414T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1414	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.A1414T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						accgccccgcgccTACGAGCC	0.687													7	14	---	---	---	---	0	0
ZNF423	23090	broad.mit.edu	37	16	49669876	49669876	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:49669876G>A	ENST00000561648.1	-	4	3240	c.3187C>T	c.(3187-3189)Ctc>Ttc	p.L1063F	ZNF423_ENST00000535559.1_Missense_Mutation_p.L946F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1063					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L1063F(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CACTTGTAGAGCTTCTGCAGC	0.627													3	28	---	---	---	---	0	0
PHLPP2	23035	broad.mit.edu	37	16	71718485	71718485	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:71718485C>A	ENST00000393524.2	-	4	1362	c.629G>T	c.(628-630)cGg>cTg	p.R210L	PHLPP2_ENST00000360429.3_Missense_Mutation_p.R210L|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R210L|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R210L|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R245L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	210	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.R210L(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGAGTATTGCCGTCGCTTCAC	0.473													3	76	---	---	---	---	0	0
DOT1L	84444	broad.mit.edu	37	19	2210728	2210728	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:2210728C>T	ENST00000398665.3	+	14	1261	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	409	Required for interaction with nucleosomes and DNA.					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R409C(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGGCTGGCCGCAAGCGCGG	0.602													9	129	---	---	---	---	0	0
CDC45	8318	broad.mit.edu	37	22	19467485	19467485	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr22:19467485C>A	ENST00000407835.1	+	0	250				CDC45_ENST00000404724.3_De_novo_Start_InFrame|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_De_novo_Start_InFrame|CDC45_ENST00000437685.2_De_novo_Start_InFrame			O75419	CDC45_HUMAN	cell division cycle 45						DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTCCGGCCGCCGTGGCTATGT	0.672													6	68	---	---	---	---	0	0
MRPL20	55052	broad.mit.edu	37	1	1341203	1341203	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:1341203C>A	ENST00000482352.1	-	3	334	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	MRPL20_ENST00000344843.7_Missense_Mutation_p.G88W|MRPL20_ENST00000493287.1_5'UTR			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	88							protein binding|rRNA binding	p.G88W(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTAAATTCCCAATGAGCGCT	0.448													13	289	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152284306	152284306	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:152284306G>A	ENST00000368799.1	-	3	3091	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1019	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A1019V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGATGACGCAGCCTGTCC	0.582									Ichthyosis				288	577	---	---	---	---	0	0
FCRL5	83416	broad.mit.edu	37	1	157504477	157504477	+	Silent	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:157504477T>C	ENST00000361835.3	-	8	1765	c.1608A>G	c.(1606-1608)tcA>tcG	p.S536S	FCRL5_ENST00000368189.3_Silent_p.S536S|FCRL5_ENST00000356953.4_Silent_p.S536S|FCRL5_ENST00000368190.3_Silent_p.S536S|FCRL5_ENST00000368191.3_Silent_p.S451S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	536	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity	p.S536S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTAATTCCCTGAATGTCCTT	0.512													31	55	---	---	---	---	0	0
CD244	51744	broad.mit.edu	37	1	160811398	160811398	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:160811398C>A	ENST00000368034.4	-	2	532	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S	CD244_ENST00000322302.7_Missense_Mutation_p.A119S|CD244_ENST00000368033.3_Missense_Mutation_p.A119S|CD244_ENST00000368032.2_Missense_Mutation_p.A119S	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	119	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGGAACGTGGCTGTCTGAACT	0.463													4	122	---	---	---	---	0	0
DHX57	90957	broad.mit.edu	37	2	39088318	39088318	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:39088318T>C	ENST00000295373.6	-	5	1360	c.1234A>G	c.(1234-1236)Ata>Gta	p.I412V	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	412							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.I412V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAAAGGGTTATCAAAGAATAT	0.423													106	149	---	---	---	---	0	0
MYNN	55892	broad.mit.edu	37	3	169497118	169497118	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr3:169497118A>G	ENST00000349841.5	+	3	1492	c.829A>G	c.(829-831)Ata>Gta	p.I277V	MYNN_ENST00000392733.1_Missense_Mutation_p.I277V|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.I277V|MYNN_ENST00000544106.1_Missense_Mutation_p.I277V	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	277						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I277V(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TATGTCTAATATAGCCAGCGT	0.458													28	59	---	---	---	---	0	0
OPA1	4976	broad.mit.edu	37	3	193374887	193374887	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr3:193374887C>A	ENST00000361510.2	+	23	2431	c.2197C>A	c.(2197-2199)Caa>Aaa	p.Q733K	OPA1_ENST00000361150.2_Missense_Mutation_p.Q679K|OPA1_ENST00000361715.2_Missense_Mutation_p.Q697K|OPA1_ENST00000392438.3_Missense_Mutation_p.Q678K|OPA1_ENST00000361908.3_Missense_Mutation_p.Q715K|OPA1_ENST00000361828.2_Missense_Mutation_p.Q696K	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	678					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGAGACCCTACAAGAAGAATT	0.343													4	201	---	---	---	---	0	0
ADH4	127	broad.mit.edu	37	4	100062745	100062745	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:100062745T>C	ENST00000508393.1	-	4	431	c.266A>G	c.(265-267)gAg>gGg	p.E89G	ADH4_ENST00000423445.1_Missense_Mutation_p.E89G|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Missense_Mutation_p.E70G|ADH4_ENST00000505590.1_Missense_Mutation_p.E89G			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	70					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	ACCTGCAGCCTCATGGCCAAC	0.418													3	101	---	---	---	---	0	0
TNIP3	79931	broad.mit.edu	37	4	122063932	122063932	+	Splice_Site	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:122063932C>A	ENST00000454328.1	-	10	963		c.e10-1		TNIP3_ENST00000509841.1_Splice_Site|TNIP3_ENST00000057513.3_Splice_Site|TNIP3_ENST00000507879.1_Splice_Site|TNIP3_ENST00000511909.1_Splice_Site			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3									p.?(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGCTTTTATCTAAAGACAAA	0.338													34	163	---	---	---	---	0	0
NEK1	4750	broad.mit.edu	37	4	170458976	170458976	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:170458976C>T	ENST00000439128.2	-	18	2289	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	NEK1_ENST00000507142.1_Missense_Mutation_p.R550Q|NEK1_ENST00000510533.1_Missense_Mutation_p.R506Q|NEK1_ENST00000511633.1_Missense_Mutation_p.R506Q|NEK1_ENST00000512193.1_Missense_Mutation_p.R481Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	550					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R550Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCCTTCGGCTCGAGCTTTATT	0.383													11	503	---	---	---	---	0	0
PCDHA3	0	broad.mit.edu	37	5	140180975	140180975	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140180975C>T	ENST00000522353.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617													5	231	---	---	---	---	0	0
PCDHB5	0	broad.mit.edu	37	5	140515710	140515710	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140515710G>A	ENST00000231134.5	+	1	911	c.694G>A	c.(694-696)Gtc>Atc	p.V232I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		232	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.V232I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCATTGTCGTCTTGGATAA	0.552													33	433	---	---	---	---	0	0
PCDHB13	0	broad.mit.edu	37	5	140595717	140595717	+	Silent	SNP	G	G	T	rs61739278	byFrequency	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140595717G>T	ENST00000341948.4	+	1	2209	c.2022G>T	c.(2020-2022)ccG>ccT	p.P674P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		674					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCTCTCCCGGAGGCGGCCC	0.677													4	199	---	---	---	---	0	0
NRCAM	4897	broad.mit.edu	37	7	107834822	107834822	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr7:107834822T>A	ENST00000379028.3	-	16	1984	c.1514A>T	c.(1513-1515)cAt>cTt	p.H505L	NRCAM_ENST00000413765.2_Missense_Mutation_p.H486L|NRCAM_ENST00000425651.2_Missense_Mutation_p.H505L|NRCAM_ENST00000379024.4_Missense_Mutation_p.H486L|NRCAM_ENST00000379022.4_Missense_Mutation_p.H505L|NRCAM_ENST00000351718.4_Missense_Mutation_p.H499L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	505	Ig-like 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.H499L(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCCATTTTCATGTAAAACATA	0.333													62	116	---	---	---	---	0	0
SYK	6850	broad.mit.edu	37	9	93637062	93637062	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr9:93637062C>T	ENST00000375754.4	+	9	1260	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	SYK_ENST00000375746.1_Missense_Mutation_p.T371M|SYK_ENST00000375751.4_Missense_Mutation_p.T348M|SYK_ENST00000375747.1_Missense_Mutation_p.T348M	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	371	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.T348M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAGCTGCTGACGCTGGAAGAC	0.522			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								13	315	---	---	---	---	0	0
DDX50	79009	broad.mit.edu	37	10	70673941	70673941	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr10:70673941A>G	ENST00000373585.3	+	7	1177	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	357						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ATGACTCAAAAGGCTGCAACT	0.338													3	137	---	---	---	---	0	0
OR52R1	119695	broad.mit.edu	37	11	4825344	4825344	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr11:4825344C>A	ENST00000380382.1	-	1	503	c.504G>T	c.(502-504)tgG>tgT	p.W168C	OR52R1_ENST00000356069.2_Missense_Mutation_p.W89C|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W168C(1)|p.W88C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGCATGAAACCAGAATATGG	0.527													31	56	---	---	---	---	0	0
GIF	2694	broad.mit.edu	37	11	59608634	59608634	+	Silent	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr11:59608634A>G	ENST00000541311.1	-	5	834	c.600T>C	c.(598-600)agT>agC	p.S200S	GIF_ENST00000257248.2_Silent_p.S225S			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	225					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	p.S225S(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGAGGCCAGTACTGTAGATGT	0.463													57	101	---	---	---	---	0	0
DUSP16	80824	broad.mit.edu	37	12	12630584	12630584	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:12630584T>C	ENST00000228862.2	-	7	1812	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	394					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.N394S(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTTGAGCTTATTGCTGTCTTC	0.552													53	91	---	---	---	---	0	0
HNF1A	6927	broad.mit.edu	37	12	121437365	121437365	+	Missense_Mutation	SNP	C	C	T	rs144674840		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:121437365C>T	ENST00000257555.6	+	9	1929	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	HNF1A_ENST00000544413.1_Missense_Mutation_p.P575L|HNF1A_ENST00000541395.1_Missense_Mutation_p.P599L			P20823	HNF1A_HUMAN	HNF1 homeobox A	568					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P568L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCCACGTCCCCAGCCAGGAC	0.687									Hepatic Adenoma, Familial Clustering of				14	15	---	---	---	---	0	0
CLIP1	6249	broad.mit.edu	37	12	122825728	122825728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:122825728C>A	ENST00000358808.2	-	10	2144	c.1990G>T	c.(1990-1992)Gaa>Taa	p.E664*	CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E629*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E365*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.E675*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E664*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E629*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	675					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.E664*(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGCAAATTTTCTATTTCGTGT	0.388													147	255	---	---	---	---	0	0
MTUS2	23281	broad.mit.edu	37	13	29599666	29599666	+	Silent	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr13:29599666C>T	ENST00000431530.3	+	1	919	c.861C>T	c.(859-861)tcC>tcT	p.S287S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	277						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.S287S(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CATCACATTCCGCCCATCCAG	0.517													12	23	---	---	---	---	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090481	115090481	+	Silent	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr13:115090481G>A	ENST00000361283.1	+	3	1473	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	388	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	p.E388E(1)									CATCTCCTGAGTCATGGAAGT	0.542													13	231	---	---	---	---	0	0
EFS	0	broad.mit.edu	37	14	23828655	23828655	+	Silent	SNP	C	C	T			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:23828655C>T	ENST00000216733.3	-	4	1639	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	EFS_ENST00000429593.2_Silent_p.L175L|EFS_ENST00000351354.3_Silent_p.L251L	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	344	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	p.L344L(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CATAACCAGGCAGGCGGGGTG	0.687													33	61	---	---	---	---	0	0
NOVA1	4857	broad.mit.edu	37	14	26917261	26917261	+	Silent	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:26917261T>C	ENST00000539517.2	-	5	1745	c.1428A>G	c.(1426-1428)ggA>ggG	p.G476G	NOVA1_ENST00000465357.2_Silent_p.G452G|NOVA1_ENST00000267422.7_Silent_p.G354G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	479	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.G476G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CAGCTGGTGTTCCAGTAATGG	0.458													50	90	---	---	---	---	0	0
DDX19B	11269	broad.mit.edu	37	16	70363960	70363960	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr16:70363960A>G	ENST00000288071.6	+	9	1257	c.1012A>G	c.(1012-1014)Atc>Gtc	p.I338V	DDX19B_ENST00000355992.3_Missense_Mutation_p.I307V|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563206.1_Missense_Mutation_p.I343V|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000451014.3_Missense_Mutation_p.I312V|DDX19B_ENST00000568625.1_Missense_Mutation_p.I229V|DDX19B_ENST00000393657.2_Missense_Mutation_p.I229V|DDX19B_ENST00000563392.1_Missense_Mutation_p.I229V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	338	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.I338V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TCAAGCCATGATCTTCTGCCA	0.592													11	150	---	---	---	---	0	0
CNDP1	84735	broad.mit.edu	37	18	72228208	72228208	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:72228208G>A	ENST00000582365.1	+	3	358	c.292G>A	c.(292-294)Ggc>Agc	p.G98S	CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.G141S			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	141					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.G141S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTGACCGGGGCGATGGGTG	0.622													87	132	---	---	---	---	0	0
GPATCH1	55094	broad.mit.edu	37	19	33603475	33603475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:33603475C>A	ENST00000170564.2	+	13	2162	c.1848C>A	c.(1846-1848)gaC>gaA	p.D616E		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	616						catalytic step 2 spliceosome	nucleic acid binding	p.D616E(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGCACCCTGACAAGCTTCTAT	0.413													44	85	---	---	---	---	0	0
ZNF223	7766	broad.mit.edu	37	19	44564709	44564709	+	Silent	SNP	G	G	A			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:44564709G>A	ENST00000591793.1	+	5	530	c.447G>A	c.(445-447)gaG>gaA	p.E149E	ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000434772.3_Silent_p.E39E|ZNF223_ENST00000585552.1_Silent_p.E39E			Q9UK11	ZN223_HUMAN	zinc finger protein 223	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E39E(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGATGCTGGAGAACTTCAGGA	0.532													97	191	---	---	---	---	0	0
NLRP5	126206	broad.mit.edu	37	19	56539873	56539873	+	Silent	SNP	A	A	G			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:56539873A>G	ENST00000390649.3	+	7	2274	c.2274A>G	c.(2272-2274)ctA>ctG	p.L758L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	758						mitochondrion|nucleolus	ATP binding	p.L758L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGTCCCTCTATGGTGAGTAC	0.527													8	346	---	---	---	---	0	0
CHD6	0	broad.mit.edu	37	20	40162157	40162157	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr20:40162157T>C	ENST00000373233.3	-	3	263	c.86A>G	c.(85-87)aAt>aGt	p.N29S	CHD6_ENST00000373222.3_Missense_Mutation_p.N64S|CHD6_ENST00000309279.7_Missense_Mutation_p.N29S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	29					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.N29S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTAGTCAAAATTGACAGAGGC	0.388													80	101	---	---	---	---	0	0
TCEB3	6924	broad.mit.edu	37	1	24083516	24083516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:24083516G>T	ENST00000418390.2	+	10	2507	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*	TCEB3_ENST00000609199.1_Nonsense_Mutation_p.E720*	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	746					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCCAGCCCTGAGGAGCCGGC	0.577													11	205	---	---	---	---	0	0
KIF26B	55083	broad.mit.edu	37	1	245849237	245849237	+	Silent	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:245849237C>A	ENST00000366518.4	+	9	1913	c.1809C>A	c.(1807-1809)tcC>tcA	p.S603S	KIF26B_ENST00000407071.2_Silent_p.S984S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	984	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S984S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATAATGGGTCCGAAGGTCAGC	0.622													4	25	---	---	---	---	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874842	80874842	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:80874842G>C	ENST00000466387.1	+	22	3287	c.2563G>C	c.(2563-2565)Gtt>Ctt	p.V855L	CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	903					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAACTCACCTGTTGTGTCTTG	0.473													6	277	---	---	---	---	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874843	80874843	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:80874843T>A	ENST00000466387.1	+	22	3288	c.2564T>A	c.(2563-2565)gTt>gAt	p.V855D	CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903D|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855D			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	903					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AACTCACCTGTTGTGTCTTGG	0.473													6	276	---	---	---	---	0	0
LCT	3938	broad.mit.edu	37	2	136567431	136567431	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:136567431C>A	ENST00000264162.2	-	8	2496	c.2486G>T	c.(2485-2487)aGg>aTg	p.R829M		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	829	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTGGGAGTCCTTGACTTGCT	0.493													5	302	---	---	---	---	0	0
SCN7A	6332	broad.mit.edu	37	2	167262940	167262940	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:167262940T>C	ENST00000409855.1	-	25	4325	c.4199A>G	c.(4198-4200)tAt>tGt	p.Y1400C		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1400					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Y1400C(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GGCAAAATTATACATTCCAAA	0.353													22	151	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179406214	179406214	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:179406214T>A	ENST00000589042.1	-	350	97814	c.97590A>T	c.(97588-97590)caA>caT	p.Q32530H	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q29962H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q30889H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q23657H|TTN_ENST00000460472.2_Missense_Mutation_p.Q23465H|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q23590H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30889	Ig-like 143.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q23465H(2)|p.Q23657H(1)|p.Q29960H(1)|p.Q29962H(1)|p.Q23590H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCAGTCACTTGGGAGCCAC	0.498													11	30	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179604912	179604912	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:179604912C>G	ENST00000589042.1	-	48	13272	c.13048G>C	c.(13048-13050)Gtg>Ctg	p.V4350L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4033L|TTN_ENST00000342175.6_Missense_Mutation_p.V4179L|TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4033	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V4112L(1)|p.V3987L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGCATCACCACGTTGTCA	0.458													16	137	---	---	---	---	0	0
HDAC11	79885	broad.mit.edu	37	3	13542247	13542247	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:13542247C>T	ENST00000433119.1	+	5	795	c.320C>T	c.(319-321)gCg>gTg	p.A107V	HDAC11_ENST00000437379.2_Silent_p.G121G|HDAC11_ENST00000495099.2_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000295757.3_Silent_p.G149G|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000522202.1_Silent_p.G98G|HDAC11_ENST00000402259.1_Intron			Q96DB2	HDA11_HUMAN	histone deacetylase 11	0	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	p.G149G(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GCGACCGTGGCGGGGGCTTCT	0.647											OREG0015412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	7	---	---	---	---	0	0
DLEC1	9940	broad.mit.edu	37	3	38135139	38135139	+	Silent	SNP	T	T	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:38135139T>C	ENST00000308059.6	+	12	1821	c.1800T>C	c.(1798-1800)ggT>ggC	p.G600G	DLEC1_ENST00000346219.3_Silent_p.G600G|DLEC1_ENST00000452631.2_Silent_p.G600G			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	600					negative regulation of cell proliferation	cytoplasm		p.G600G(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATATTTCTGGTGAAAAAAGCC	0.493													28	93	---	---	---	---	0	0
PSMD6	9861	broad.mit.edu	37	3	63996409	63996409	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:63996409T>G	ENST00000492933.1	-	9	1316	c.1264A>C	c.(1264-1266)Act>Cct	p.T422P	PSMD6_ENST00000394431.2_Missense_Mutation_p.T331P|PSMD6_ENST00000482510.1_Missense_Mutation_p.T330P|PSMD6_ENST00000295901.4_Missense_Mutation_p.T369P|PSMD6-AS2_ENST00000472046.1_RNA	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	369					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	p.T369P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		TTCTTGATAGTTTCTTGGTAC	0.318													12	84	---	---	---	---	0	0
EPHB1	2047	broad.mit.edu	37	3	134911533	134911533	+	Silent	SNP	G	G	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:134911533G>C	ENST00000398015.3	+	11	2368	c.1998G>C	c.(1996-1998)ctG>ctC	p.L666L	EPHB1_ENST00000493838.1_Silent_p.L227L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	666	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGGACTTTCTGAGTGAGGCGA	0.547													4	49	---	---	---	---	0	0
OTUD4	54726	broad.mit.edu	37	4	146058804	146058804	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr4:146058804C>A	ENST00000454497.2	-	21	3065	c.2928G>T	c.(2926-2928)caG>caT	p.Q976H	OTUD4_ENST00000447906.2_Missense_Mutation_p.Q1041H|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1040							protein binding	p.Q976H(1)|p.Q975H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GATTATAGAACTGCTTGGATC	0.413													47	384	---	---	---	---	0	0
BDP1	55814	broad.mit.edu	37	5	70751835	70751835	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:70751835C>A	ENST00000358731.4	+	1	394	c.131C>A	c.(130-132)gCt>gAt	p.A44D	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	44	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACGGACTCTGCTTCCAAGCCC	0.642													5	48	---	---	---	---	0	0
SYNE1	23345	broad.mit.edu	37	6	152558076	152558076	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr6:152558076G>A	ENST00000367255.5	-	109	20676	c.20075C>T	c.(20074-20076)tCc>tTc	p.S6692F	SYNE1_ENST00000341594.5_Missense_Mutation_p.S6304F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1216F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6692F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6621F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6621F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6692					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.S6692F(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCAGATGGGACCACGTCTA	0.522										HNSCC(10;0.0054)			6	70	---	---	---	---	0	0
ZAN	7455	broad.mit.edu	37	7	100348486	100348486	+	RNA	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr7:100348486C>A	ENST00000542585.1	+	0	1636				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.V496V(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACACCTCCGTCACCGTCCCCT	0.642													7	41	---	---	---	---	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814510	106814510	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr8:106814510C>T	ENST00000407775.2	+	8	2450	c.2200C>T	c.(2200-2202)Cgc>Tgc	p.R734C	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R465C|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	734					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGAACCATGCGCACACGCAA	0.507													4	63	---	---	---	---	0	0
CENPP	401541	broad.mit.edu	37	9	95108042	95108042	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr9:95108042G>T	ENST00000375587.3	+	4	955	c.440G>T	c.(439-441)tGc>tTc	p.C147F		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	147					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		p.C147F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CCCACAGAATGCTCAGAATTA	0.289													16	56	---	---	---	---	0	0
MUS81	80198	broad.mit.edu	37	11	65630579	65630579	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr11:65630579G>T	ENST00000308110.4	+	7	998	c.649G>T	c.(649-651)Gcc>Tcc	p.A217S	MUS81_ENST00000533035.1_Missense_Mutation_p.A142S	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	217	Interaction with BLM.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CCAGAAGTTGGCCGAGTCAGA	0.612								Homologous recombination					4	116	---	---	---	---	0	0
TSPAN9	10867	broad.mit.edu	37	12	3390977	3390977	+	Silent	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr12:3390977C>T	ENST00000011898.5	+	8	803	c.642C>T	c.(640-642)atC>atT	p.I214I	TSPAN9_ENST00000407263.1_Silent_p.I214I|TSPAN9_ENST00000537971.1_Silent_p.I214I	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	214						integral to plasma membrane|membrane fraction		p.I214I(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GCATCCTCATCATGCAGGTAA	0.587													16	24	---	---	---	---	0	0
TRAV18	0	broad.mit.edu	37	14	22471681	22471681	+	RNA	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:22471681G>A	ENST00000390446.3	+	0	209																											CTCCCTGAGAGGGCAGCTCTG	0.453													9	134	---	---	---	---	0	0
SIX1	6495	broad.mit.edu	37	14	61115426	61115426	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:61115426G>C	ENST00000247182.6	-	1	754	c.482C>G	c.(481-483)aCc>aGc	p.T161S	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	161					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		GGTGAGGCCGGTGGCCTCGGC	0.647													6	78	---	---	---	---	0	0
SYNE2	23224	broad.mit.edu	37	14	64580250	64580250	+	Silent	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:64580250C>T	ENST00000357395.3	+	67	13100	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.D901D|SYNE2_ENST00000358025.3_Silent_p.D4267D|SYNE2_ENST00000394768.2_Silent_p.D652D|SYNE2_ENST00000344113.4_Silent_p.D4267D|SYNE2_ENST00000554584.1_Silent_p.D4282D			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4267					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.D4267D(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAACGCAGACATGCAGCAGG	0.557													11	19	---	---	---	---	0	0
CHSY1	22856	broad.mit.edu	37	15	101718218	101718218	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr15:101718218G>T	ENST00000254190.3	-	3	2259	c.1784C>A	c.(1783-1785)cCt>cAt	p.P595H	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	595					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCGGCTTTAGGGTACTTAAT	0.458													4	104	---	---	---	---	0	0
MPP2	4355	broad.mit.edu	37	17	41956753	41956753	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr17:41956753T>C	ENST00000269095.4	-	12	1676	c.1372A>G	c.(1372-1374)Acg>Gcg	p.T458A	MPP2_ENST00000461854.1_Missense_Mutation_p.T482A|MPP2_ENST00000377184.3_Missense_Mutation_p.T475A|MPP2_ENST00000536246.1_Missense_Mutation_p.T447A|MPP2_ENST00000518766.1_Missense_Mutation_p.T503A|MPP2_ENST00000520305.1_Missense_Mutation_p.T319A|MPP2_ENST00000523501.1_Missense_Mutation_p.T447A	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	482	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AACTCGGCCGTTCGTAGCACC	0.572													7	123	---	---	---	---	0	0
ANKRD12	23253	broad.mit.edu	37	18	9221994	9221994	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr18:9221994A>G	ENST00000262126.4	+	8	1180	c.940A>G	c.(940-942)Aca>Gca	p.T314A	ANKRD12_ENST00000383440.2_Missense_Mutation_p.T291A|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Missense_Mutation_p.T291A	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus		p.T314A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGAAAGTTACACAGGTTTGTT	0.348													10	113	---	---	---	---	0	0
MOCOS	55034	broad.mit.edu	37	18	33836994	33836994	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr18:33836994A>T	ENST00000261326.5	+	12	2249	c.2228A>T	c.(2227-2229)aAc>aTc	p.N743I	MOCOS_ENST00000588132.1_3'UTR	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	743	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.N743I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CTGCTGATCAACACATCCAGT	0.453													57	179	---	---	---	---	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062020	41062020	+	Silent	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr19:41062020G>A	ENST00000352632.3	+	25	5201	c.5115G>A	c.(5113-5115)gtG>gtA	p.V1705V	SPTBN4_ENST00000392023.1_Silent_p.V381V|SPTBN4_ENST00000338932.3_Silent_p.V1705V|SPTBN4_ENST00000595535.1_Silent_p.V1705V|SPTBN4_ENST00000598249.1_Silent_p.V1705V|SPTBN4_ENST00000392025.1_Silent_p.V448V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1705					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.V1705V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTCTCAGGTGGACCGCCTGT	0.662													6	53	---	---	---	---	0	0
DOPEY2	9980	broad.mit.edu	37	21	37586800	37586800	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr21:37586800G>A	ENST00000399151.3	+	9	1160	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	359					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.A359T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACGCCATCATGCATACCTGAA	0.393													9	70	---	---	---	---	0	0
WNK3	65267	broad.mit.edu	37	X	54359994	54359994	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:54359994C>T	ENST00000354646.2	-	2	551	c.113G>A	c.(112-114)aGa>aAa	p.R38K	WNK3_ENST00000375169.3_Missense_Mutation_p.R38K|WNK3_ENST00000375159.2_Missense_Mutation_p.R38K	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	38					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.R38K(2)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTCCTTTAGTCTAGCTTCTAC	0.428													8	125	---	---	---	---	0	0
FRMD7	90167	broad.mit.edu	37	X	131219961	131219961	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:131219961G>A	ENST00000298542.4	-	6	659	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	FRMD7_ENST00000464296.1_Missense_Mutation_p.H147Y|FRMD7_ENST00000370879.1_Missense_Mutation_p.H42Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	162	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.H162Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCTGATGAAAGTGCATG	0.443													73	88	---	---	---	---	0	0
F8	2157	broad.mit.edu	37	X	154225299	154225299	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:154225299G>T	ENST00000360256.4	-	3	537	c.337C>A	c.(337-339)Cat>Aat	p.H113N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	113	F5/8 type A 1.|Plastocyanin-like 1.		H -> R (in HEMA; mild).|H -> Y (in HEMA).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTGACAGGATGGGAAGCCATG	0.443													5	178	---	---	---	---	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539834	120539834	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr1:120539834A>T	ENST00000256646.2	-	4	756	c.537T>A	c.(535-537)tgT>tgA	p.C179*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	179	EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.C179*(1)|p.C140*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGTCTCACATTTCTGCC	0.552			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				9	81	---	---	---	---	0	0
OR2T6	254879	broad.mit.edu	37	1	248551568	248551568	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr1:248551568G>T	ENST00000355728.2	+	1	659	c.659G>T	c.(658-660)aGg>aTg	p.R220M		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTACACCAGGATTCTCATC	0.517													7	106	---	---	---	---	0	0
BIRC6	57448	broad.mit.edu	37	2	32824954	32824954	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:32824954A>C	ENST00000421745.2	+	70	14113	c.13979A>C	c.(13978-13980)tAt>tCt	p.Y4660S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4660	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.Y4660S(2)|p.Y4632S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAAACCTTTATAATGATGGC	0.333													3	39	---	---	---	---	0	0
C2orf40	84417	broad.mit.edu	37	2	106690370	106690370	+	Silent	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:106690370C>A	ENST00000409944.1	+	4	279	c.48C>A	c.(46-48)gcC>gcA	p.A16A	C2orf40_ENST00000238044.3_Silent_p.A52A|C2orf40_ENST00000489174.1_3'UTR			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CTAAAGTGGCCGTTGATGAGA	0.527													4	187	---	---	---	---	0	0
ZNF621	285268	broad.mit.edu	37	3	40573524	40573524	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:40573524G>A	ENST00000339296.5	+	5	715	c.263G>A	c.(262-264)gGt>gAt	p.G88D	ZNF621_ENST00000403205.2_Missense_Mutation_p.G88D|ZNF621_ENST00000310898.1_Missense_Mutation_p.G88D|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_5'UTR	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G88D(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TGGTCAGGTGGTGAGTCCTGG	0.403													13	81	---	---	---	---	0	0
SEC61A1	29927	broad.mit.edu	37	3	127779441	127779441	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:127779441A>G	ENST00000243253.3	+	7	737	c.553A>G	c.(553-555)Act>Gct	p.T185A	SEC61A1_ENST00000464451.1_Missense_Mutation_p.T191A|SEC61A1_ENST00000424880.2_Missense_Mutation_p.T65A	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	185					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	p.T185A(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCATTGCAACTAACATCTG	0.478													29	45	---	---	---	---	0	0
PCDHGA6	0	broad.mit.edu	37	5	140754115	140754115	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr5:140754115G>A	ENST00000517434.1	+	1	465	c.465G>A	c.(463-465)atG>atA	p.M155I	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.M155I(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACTAATGGAGGTCTATG	0.448													3	49	---	---	---	---	0	0
MYLIP	29116	broad.mit.edu	37	6	16145318	16145318	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:16145318T>C	ENST00000349606.4	+	5	979	c.475T>C	c.(475-477)Tca>Cca	p.S159P	MYLIP_ENST00000356840.3_Missense_Mutation_p.S340P			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	340	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S340P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GGACCTCGTTTCAAGAAACAA	0.517													10	123	---	---	---	---	0	0
MOCS1	4337	broad.mit.edu	37	6	39880665	39880665	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:39880665C>A	ENST00000373186.4	-	6	978	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	MOCS1_ENST00000425303.2_Missense_Mutation_p.V281L|MOCS1_ENST00000340692.5_Missense_Mutation_p.V281L|MOCS1_ENST00000308559.7_Missense_Mutation_p.V281L|MOCS1_ENST00000373195.3_Missense_Mutation_p.V194L|MOCS1_ENST00000373188.2_Missense_Mutation_p.V281L|MOCS1_ENST00000373175.4_Missense_Mutation_p.V252L|MOCS1_ENST00000432280.2_Missense_Mutation_p.V252L	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	281	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	p.V281L(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCCTCTGGCACCTTCTCCAGC	0.577													136	185	---	---	---	---	0	0
EIF4H	7458	broad.mit.edu	37	7	73604629	73604629	+	Silent	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr7:73604629C>T	ENST00000265753.8	+	5	601	c.462C>T	c.(460-462)ttC>ttT	p.F154F	EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Intron	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	154	HHV-1 Vhs binding site.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	p.F154F(1)		endometrium(1)|lung(2)|prostate(1)	4						GGGATGACTTCAATTCTGGTA	0.453													14	26	---	---	---	---	0	0
NKX3-1	4824	broad.mit.edu	37	8	23539041	23539041	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:23539041T>G	ENST00000380871.4	-	2	435	c.398A>C	c.(397-399)cAc>cCc	p.H133P	NKX3-1_ENST00000523261.1_Missense_Mutation_p.H58P	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	133					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	p.H133P(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CACCTGAGTGTGGGAGAAGGC	0.587													90	33	---	---	---	---	0	0
MRPL15	29088	broad.mit.edu	37	8	55049839	55049839	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:55049839A>C	ENST00000260102.4	+	3	349	c.275A>C	c.(274-276)cAg>cCg	p.Q92P		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	92					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	p.Q92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTCAGACGCCAGTATAAGCCT	0.398													55	39	---	---	---	---	0	0
TJP2	9414	broad.mit.edu	37	9	71844114	71844114	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr9:71844114G>C	ENST00000377245.4	+	10	1676	c.1468G>C	c.(1468-1470)Gca>Cca	p.A490P	TJP2_ENST00000453658.2_Missense_Mutation_p.A467P|TJP2_ENST00000539225.1_Missense_Mutation_p.A521P|TJP2_ENST00000535702.1_Missense_Mutation_p.A494P|TJP2_ENST00000348208.4_Missense_Mutation_p.A490P|TJP2_ENST00000265384.7_Missense_Mutation_p.A490P	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	490					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.A490P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCAACCAAAAGCAGCCCCGAG	0.388													7	141	---	---	---	---	0	0
SCAI	286205	broad.mit.edu	37	9	127765792	127765792	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr9:127765792C>G	ENST00000336505.6	-	10	977	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.E330Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.E330Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTCATTGGCTCCCTTTCCAGA	0.413													20	56	---	---	---	---	0	0
ITIH2	3698	broad.mit.edu	37	10	7780658	7780658	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:7780658A>G	ENST00000358415.4	+	16	2198	c.2032A>G	c.(2032-2034)Atc>Gtc	p.I678V	ITIH2_ENST00000379587.4_Missense_Mutation_p.I667V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	678					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.I678V(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACGCCCGTGATCTCCATGCT	0.552													9	75	---	---	---	---	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884077	24884077	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:24884077G>C	ENST00000396432.2	-	20	4241	c.3755C>G	c.(3754-3756)cCt>cGt	p.P1252R	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P1039R	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1251	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.P1251R(1)|p.P1251fs*2(1)|p.P1252R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACGATCTAGAGGATCTTCTTT	0.299													4	25	---	---	---	---	0	0
TPH1	7166	broad.mit.edu	37	11	18062244	18062244	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:18062244A>C	ENST00000250018.2	-	1	628	c.66T>G	c.(64-66)ttT>ttG	p.F22L	TPH1_ENST00000341556.2_Missense_Mutation_p.F22L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	22	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.F22L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCTTTAAGGAAAAAATGAGAC	0.328													5	38	---	---	---	---	0	0
CD82	3732	broad.mit.edu	37	11	44626916	44626916	+	Silent	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:44626916C>T	ENST00000227155.4	+	6	521	c.273C>T	c.(271-273)ttC>ttT	p.F91F	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Intron	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	91						integral to plasma membrane	protein binding	p.F91F(1)		large_intestine(1)|ovary(1)	2						ACTTTGCTTTCCTGCTCCTGA	0.617													27	32	---	---	---	---	0	0
PFDN5	5204	broad.mit.edu	37	12	53689395	53689395	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr12:53689395T>C	ENST00000551018.1	+	1	321	c.44T>C	c.(43-45)cTa>cCa	p.L15P	PFDN5_ENST00000334478.4_Missense_Mutation_p.L15P|PFDN5_ENST00000351500.3_Missense_Mutation_p.L15P|PFDN5_ENST00000550846.1_Missense_Mutation_p.L15P	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	15					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding	p.L15P(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						CTGCCGCAGCTAGAAATGCTC	0.592													3	93	---	---	---	---	0	0
LHFP	10186	broad.mit.edu	37	13	40175053	40175053	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr13:40175053G>A	ENST00000379589.3	-	2	763	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	101						integral to membrane	DNA binding	p.L101F(1)	HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGGGCAGTGAGCGCCACCAGG	0.587			T	HMGA2	lipoma								12	136	---	---	---	---	0	0
BBS4	585	broad.mit.edu	37	15	73015166	73015166	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr15:73015166T>A	ENST00000268057.4	+	7	478	c.437T>A	c.(436-438)aTa>aAa	p.I146K	BBS4_ENST00000395205.2_Missense_Mutation_p.I154K|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.I134K|BBS4_ENST00000542334.1_5'UTR	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	146	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	p.I146K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTTTGCTACATATACCTGAAG	0.373									Bardet-Biedl syndrome				18	46	---	---	---	---	0	0
NAA60	79903	broad.mit.edu	37	16	3529476	3529476	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:3529476C>A	ENST00000407558.4	+	4	419	c.116C>A	c.(115-117)cCa>cAa	p.P39Q	NAA60_ENST00000360862.5_5'UTR|NAA60_ENST00000610180.1_Missense_Mutation_p.P39Q|NAA60_ENST00000576916.1_Missense_Mutation_p.P39Q|NAA60_ENST00000570819.1_Missense_Mutation_p.P39Q|NAA60_ENST00000421765.3_Missense_Mutation_p.P39Q|NAA60_ENST00000414063.2_Missense_Mutation_p.P39Q|NAA60_ENST00000424546.2_Missense_Mutation_p.P46Q|NAA60_ENST00000575076.1_Missense_Mutation_p.P39Q|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000577013.1_Missense_Mutation_p.P39Q|NAA60_ENST00000608722.1_Missense_Mutation_p.P39Q|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000608993.1_5'UTR|NAA60_ENST00000573580.1_5'UTR|NAA60_ENST00000572584.1_Missense_Mutation_p.P39Q|NAA60_ENST00000572942.1_Missense_Mutation_p.P39Q			Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	39	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CTCAGGTACCCAGACTCATGG	0.478													3	32	---	---	---	---	0	0
TAOK2	9344	broad.mit.edu	37	16	29996717	29996717	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:29996717G>T	ENST00000308893.4	+	14	2649	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W	TAOK2_ENST00000543033.1_Missense_Mutation_p.G536W|TAOK2_ENST00000416441.2_Missense_Mutation_p.G363W|TAOK2_ENST00000279394.3_Missense_Mutation_p.G536W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	536					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.G536W(3)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCTGGCTTTGGGGCAGAGGC	0.672													8	10	---	---	---	---	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127331	45127331	+	RNA	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:45127331C>A	ENST00000575173.1	-	0	418																											AACTCGCTCCCGCATGACCCA	0.418													55	339	---	---	---	---	0	0
BZRAP1	9256	broad.mit.edu	37	17	56385061	56385061	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:56385061C>A	ENST00000355701.3	-	24	5764	c.4894G>T	c.(4894-4896)Gct>Tct	p.A1632S	BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1572S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1632S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1632	SH3 2.					mitochondrion	benzodiazepine receptor binding	p.A1632S(3)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAAACAGAGCCACAAAGATC	0.567													7	64	---	---	---	---	0	0
SIRT7	51547	broad.mit.edu	37	17	79873382	79873382	+	Silent	SNP	G	G	A	rs146448282	byFrequency	TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:79873382G>A	ENST00000328666.6	-	5	476	c.414C>T	c.(412-414)gcC>gcT	p.A138A		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	138	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	p.A138A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGCTCAGGTCGGCAGCACTGC	0.652													3	28	---	---	---	---	0	0
HNRNPL	3191	broad.mit.edu	37	19	39334540	39334540	+	Silent	SNP	A	A	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:39334540A>G	ENST00000221419.5	-	6	1188	c.822T>C	c.(820-822)aaT>aaC	p.N274N	HNRNPL_ENST00000600873.1_Silent_p.N141N	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	274					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.N274N(1)|p.N141N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCTTGAACACATTCAAGCGTG	0.507													31	60	---	---	---	---	0	0
PSG2	5670	broad.mit.edu	37	19	43585093	43585093	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:43585093T>C	ENST00000406487.1	-	2	468	c.370A>G	c.(370-372)Atc>Gtc	p.I124V		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	124	Ig-like V-type.				cell migration|female pregnancy	extracellular region		p.I124V(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CGCTTTATGATGTGTAAGGTG	0.493													16	160	---	---	---	---	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870363	51870363	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr20:51870363G>A	ENST00000371497.5	+	2	1253	c.366G>A	c.(364-366)atG>atA	p.M122I	TSHZ2_ENST00000603338.2_Missense_Mutation_p.M119I|TSHZ2_ENST00000329613.6_Missense_Mutation_p.M119I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	122					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M122I(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAATTGCATGGATAAAATGA	0.522													24	32	---	---	---	---	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072407	17072407	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr22:17072407C>T	ENST00000359963.3	-	1	1293	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	345					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.G345A(1)|p.G345D(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGGCACTTGCCTGGCCTCTG	0.547													4	137	---	---	---	---	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384286	21384286	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr22:21384286C>T	ENST00000382932.2	-	3	1404	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	SLC7A4_ENST00000403586.1_Missense_Mutation_p.G446D	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	446					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	p.G446D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGTACAGTGCCCACCAGCTG	0.657													6	19	---	---	---	---	0	0
IGLV2-8	0	broad.mit.edu	37	22	23165714	23165714	+	RNA	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr22:23165714C>A	ENST00000390317.2	+	0	447																											CCTCCCTGACCGTCTCTGGGC	0.522													5	245	---	---	---	---	0	0
MTOR	2475	broad.mit.edu	37	1	11188164	11188164	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:11188164G>C	ENST00000361445.4	-	43	6006	c.5930C>G	c.(5929-5931)aCa>aGa	p.T1977R	MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1977	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.T1977R(2)|p.T1977K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGAAGCCACTGTCAGTGGGTA	0.478													10	112	---	---	---	---	0	0
RPE65	6121	broad.mit.edu	37	1	68906582	68906582	+	Missense_Mutation	SNP	A	A	T	rs141527042		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:68906582A>T	ENST00000262340.5	-	6	650	c.597T>A	c.(595-597)aaT>aaA	p.N199K		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	199					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.N199K(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CAATTGAAAAATTTTTTCCAA	0.388													3	102	---	---	---	---	0	0
WDR77	79084	broad.mit.edu	37	1	111983947	111983947	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:111983947G>C	ENST00000235090.5	-	10	1140	c.934C>G	c.(934-936)Ctg>Gtg	p.L312V	WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.L248V	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	312					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	p.L312V(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGTAAGCAGGGAGTGATTG	0.537													13	130	---	---	---	---	0	0
OR10T2	128360	broad.mit.edu	37	1	158368837	158368837	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158368837C>T	ENST00000334438.1	-	1	419	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R140R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCAACCCCAGCCTTTTGTTTA	0.473													7	202	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158615313	158615313	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158615313C>A	ENST00000368147.4	-	28	4148	c.3968G>T	c.(3967-3969)gGc>gTc	p.G1323V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATCTCTATGCCAGTTAAGTC	0.423													4	181	---	---	---	---	0	0
C1orf116	79098	broad.mit.edu	37	1	207195320	207195320	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:207195320C>T	ENST00000359470.5	-	4	2038	c.1789G>A	c.(1789-1791)Gga>Aga	p.G597R	C1orf116_ENST00000461135.2_Missense_Mutation_p.G351R	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	597						cytoplasm|plasma membrane	receptor activity	p.G597R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TTCAACAGTCCCAGCTTCTTC	0.562													4	106	---	---	---	---	0	0
RYR2	6262	broad.mit.edu	37	1	237969520	237969520	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:237969520C>A	ENST00000366574.2	+	99	14552	c.14235C>A	c.(14233-14235)gaC>gaA	p.D4745E	RYR2_ENST00000542537.1_Missense_Mutation_p.D4729E|RYR2_ENST00000360064.6_Missense_Mutation_p.D4751E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4745					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D4745E(1)|p.D4743E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTTCTCGACATTGCTATGG	0.393													27	77	---	---	---	---	0	0
COL3A1	1281	broad.mit.edu	37	2	189874962	189874962	+	Silent	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:189874962T>C	ENST00000304636.3	+	49	4052	c.3882T>C	c.(3880-3882)tgT>tgC	p.C1294C	COL3A1_ENST00000317840.5_Silent_p.C991C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1294	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.C1294C(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGTATTCTGTAATATGGAAA	0.403													45	132	---	---	---	---	0	0
SEL1L3	23231	broad.mit.edu	37	4	25783976	25783976	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr4:25783976T>C	ENST00000399878.3	-	15	2467	c.2345A>G	c.(2344-2346)aAa>aGa	p.K782R	SEL1L3_ENST00000264868.5_Missense_Mutation_p.K747R|SEL1L3_ENST00000502949.1_Missense_Mutation_p.K629R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	782						integral to membrane	binding	p.K782R(1)|p.K629R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTTGCTGCTTTGGCGTAATT	0.418													58	110	---	---	---	---	0	0
PDZD2	23037	broad.mit.edu	37	5	32087621	32087621	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:32087621G>A	ENST00000438447.1	+	20	4455	c.4067G>A	c.(4066-4068)gGt>gAt	p.G1356D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1356D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1356					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.G1356D(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAGCTCCAGGTAACCACAGT	0.597													4	29	---	---	---	---	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362928	128362928	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:128362928T>A	ENST00000262462.4	+	7	2368	c.1358T>A	c.(1357-1359)tTt>tAt	p.F453Y	SLC27A6_ENST00000395266.1_Missense_Mutation_p.F453Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.F453Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	453					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.F453Y(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTGATGTTTTTAAGAAGGGA	0.393													96	222	---	---	---	---	0	0
FBXW11	23291	broad.mit.edu	37	5	171299983	171299983	+	Silent	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:171299983C>A	ENST00000296933.6	-	9	1501	c.1131G>T	c.(1129-1131)acG>acT	p.T377T	FBXW11_ENST00000393802.2_Silent_p.T356T|FBXW11_ENST00000425623.2_Silent_p.T358T|FBXW11_ENST00000265094.5_Silent_p.T390T	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	390					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.T390T(1)|p.T377T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACAGGTGCTCGTGCTCCAGA	0.418													3	73	---	---	---	---	0	0
DPY19L1	23333	broad.mit.edu	37	7	34981489	34981489	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:34981489T>A	ENST00000310974.4	-	18	1502	c.1358A>T	c.(1357-1359)tAc>tTc	p.Y453F		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	453						integral to membrane		p.Y453F(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CAATGCATGGTAAACCAGCTG	0.363													6	203	---	---	---	---	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130409	71130409	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:71130409G>A	ENST00000333538.5	+	7	1728	c.1094G>A	c.(1093-1095)gGg>gAg	p.G365E	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	365	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.G365E(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGCTCTGTGGGGGCAGCATG	0.512													15	212	---	---	---	---	0	0
DGKI	9162	broad.mit.edu	37	7	137082144	137082144	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:137082144A>T	ENST00000453654.2	-	31	2506	c.1967T>A	c.(1966-1968)tTg>tAg	p.L656*	DGKI_ENST00000446122.1_Nonsense_Mutation_p.L969*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.L1000*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.L987*|DGKI_ENST00000494390.1_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.L987*(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGCCATATCCAATAACTCGGA	0.333													7	165	---	---	---	---	0	0
SULF1	23213	broad.mit.edu	37	8	70533358	70533358	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:70533358C>T	ENST00000260128.4	+	14	2183	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.T489M|SULF1_ENST00000458141.2_Missense_Mutation_p.T489M|SULF1_ENST00000402687.4_Missense_Mutation_p.T489M	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	489					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.T489M(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGGCAGAGCACGCGGAACCTC	0.522													22	85	---	---	---	---	0	0
NCOA4	8031	broad.mit.edu	37	10	51584833	51584833	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:51584833C>T	ENST00000452682.1	+	9	1232	c.980C>T	c.(979-981)tCc>tTc	p.S327F	NCOA4_ENST00000374082.1_Missense_Mutation_p.S311F|NCOA4_ENST00000374087.4_Missense_Mutation_p.S311F|NCOA4_ENST00000443446.1_Missense_Mutation_p.S311F|NCOA4_ENST00000430396.2_Missense_Mutation_p.S211F|NCOA4_ENST00000344348.6_Missense_Mutation_p.S311F|NCOA4_ENST00000414907.2_Missense_Mutation_p.S145F|NCOA4_ENST00000438493.1_Missense_Mutation_p.S327F	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	311					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.S327F(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CCCCAGGAATCCCATAAGCTG	0.438			T	RET	papillary thyroid								43	82	---	---	---	---	0	0
SLIT1	6585	broad.mit.edu	37	10	98762741	98762741	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:98762741C>T	ENST00000266058.4	-	35	4119	c.3874G>A	c.(3874-3876)Gtg>Atg	p.V1292M	SLIT1_ENST00000371070.4_Missense_Mutation_p.V1292M|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1292	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.V1292M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTGACATCCACGGGCATCCCT	0.627													10	159	---	---	---	---	0	0
SFR1	119392	broad.mit.edu	37	10	105882676	105882676	+	Silent	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:105882676T>C	ENST00000336358.5	+	1	672	c.153T>C	c.(151-153)taT>taC	p.Y51Y	SFR1_ENST00000463224.1_Intron|SFR1_ENST00000369729.3_Intron|SFR1_ENST00000369727.3_Intron			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	0					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										AAGTCGACTATAGAGAGGTGT	0.318													14	49	---	---	---	---	0	0
ADAM12	8038	broad.mit.edu	37	10	127737879	127737879	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:127737879G>A	ENST00000368679.4	-	16	2178	c.1869C>T	c.(1867-1869)ggC>ggT	p.G623G	ADAM12_ENST00000368676.4_Silent_p.G623G	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	623	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.G623G(4)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCATGTCATCGCCCAAGTACA	0.532													139	266	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62286704	62286704	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:62286704A>C	ENST00000378024.4	-	5	15459	c.15185T>G	c.(15184-15186)gTc>gGc	p.V5062G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5062					nervous system development	nucleus	protein binding	p.V5062G(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCGATGTTGACATCTACATC	0.463													7	408	---	---	---	---	0	0
B3GAT3	26229	broad.mit.edu	37	11	62389399	62389399	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:62389399G>T	ENST00000531383.1	-	1	227	c.21C>A	c.(19-21)aaC>aaA	p.N7K	B3GAT3_ENST00000534026.1_Missense_Mutation_p.N7K|B3GAT3_ENST00000265471.5_Missense_Mutation_p.N7K			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	7					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	p.N7K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CGAGAAACACGTTCTTCAGCT	0.726													9	19	---	---	---	---	0	0
MAP6	4135	broad.mit.edu	37	11	75316878	75316878	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:75316878T>G	ENST00000434603.2	-	3	1355	c.1291A>C	c.(1291-1293)Aac>Cac	p.N431H	MAP6_ENST00000526740.1_Missense_Mutation_p.N102H|MAP6_ENST00000304771.3_Missense_Mutation_p.N431H	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	431						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	p.N431H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AGTTTATTGTTCATCTCTTTG	0.488													5	257	---	---	---	---	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796693	21796693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:21796693C>A	ENST00000206660.6	+	18	3006	c.3006C>A	c.(3004-3006)taC>taA	p.Y1002*	RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Y659*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.Y328*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.Y1002*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.Y361*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.Y964*			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1002	Interaction with RPGR.				response to stimulus|visual perception	cilium		p.Y618*(1)|p.Y1002*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTGTGAGCTACTCAAGAAGAA	0.428													3	110	---	---	---	---	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256543	69256543	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:69256543T>C	ENST00000439696.2	-	2	1025	c.724A>G	c.(724-726)Acc>Gcc	p.T242A	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.T242A	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	242					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T242A(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCGGGCAGGGTAGGTGAGCCC	0.677											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	179	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406624	105406624	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:105406624C>G	ENST00000333244.5	-	7	15283	c.15164G>C	c.(15163-15165)gGg>gCg	p.G5055A	AHNAK2_ENST00000557457.1_Missense_Mutation_p.G53A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5055						nucleus		p.G25A(1)|p.G5055A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAAGCTACCCCCTGCTGTGGC	0.547													6	180	---	---	---	---	0	0
DET1	55070	broad.mit.edu	37	15	89074369	89074369	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr15:89074369C>G	ENST00000564406.1	-	3	761	c.601G>C	c.(601-603)Gac>Cac	p.D201H	DET1_ENST00000558413.1_Intron|DET1_ENST00000268148.8_Missense_Mutation_p.D190H|DET1_ENST00000444300.1_Missense_Mutation_p.D201H	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	190						nucleus		p.D201H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGGGAATAGTCTTCTAGAGGG	0.522													23	46	---	---	---	---	0	0
GRIN2A	0	broad.mit.edu	37	16	9858281	9858281	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:9858281C>A	ENST00000396573.2	-	14	3429	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D	GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1040D|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E883D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1040D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1040					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1040D(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGTCCTATTCTCTGCTGTTG	0.532													100	232	---	---	---	---	0	0
ZNF276	92822	broad.mit.edu	37	16	89804607	89804607	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:89804607C>T	ENST00000289816.5	+	11	1885	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	ZNF276_ENST00000446326.2_Missense_Mutation_p.P386S|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.P600S|ZNF276_ENST00000568064.1_3'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P525S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCACCGAGCCCCTCTGTGAC	0.647													3	8	---	---	---	---	0	0
NCOR1	9611	broad.mit.edu	37	17	15976858	15976858	+	Silent	SNP	A	A	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:15976858A>C	ENST00000268712.3	-	28	3953	c.3696T>G	c.(3694-3696)acT>acG	p.T1232T	NCOR1_ENST00000395851.1_Silent_p.T1248T|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1232	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.T1232T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTGGACTCCTAGTCCCTTCTC	0.393													10	131	---	---	---	---	0	0
MYO15A	51168	broad.mit.edu	37	17	18052094	18052094	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:18052094C>T	ENST00000205890.5	+	33	7122	c.6784C>T	c.(6784-6786)Cgc>Tgc	p.R2262C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2262	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.R2262C(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGATGGCTGGCGCGGCTGGAC	0.602													4	3	---	---	---	---	0	0
KRT25	147183	broad.mit.edu	37	17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:38906791G>A	ENST00000312150.4	-	6	1076	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562													7	349	---	---	---	---	0	0
RABAC1	10567	broad.mit.edu	37	19	42463023	42463023	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:42463023C>A	ENST00000222008.6	-	2	231	c.134G>T	c.(133-135)tGg>tTg	p.W45L	RABAC1_ENST00000601891.1_Missense_Mutation_p.W45L|RABAC1_ENST00000601078.1_5'UTR	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	45	Required for interaction with prenylated RAB3A and VAMP2 (By similarity).					cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding	p.W45L(1)		central_nervous_system(1)|kidney(1)|prostate(1)	3						GAAGGTGCTCCAGGGCCGGAT	0.692													2	3	---	---	---	---	0	0
KLK3	354	broad.mit.edu	37	19	51361384	51361384	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:51361384T>G	ENST00000360617.3	+	3	306	c.306T>G	c.(304-306)gaT>gaG	p.D102E	KLK3_ENST00000593997.1_Missense_Mutation_p.D102E|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000326003.2_Missense_Mutation_p.D102E			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	102	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.D102E(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CGCTCTACGATATGAGCCTCC	0.577													27	33	---	---	---	---	0	0
SFI1	9814	broad.mit.edu	37	22	31971261	31971261	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:31971261T>C	ENST00000432498.1	+	10	1360	c.967T>C	c.(967-969)Ttc>Ctc	p.F323L	SFI1_ENST00000400288.2_Missense_Mutation_p.F323L|SFI1_ENST00000400289.1_Missense_Mutation_p.F241L|SFI1_ENST00000443011.1_Missense_Mutation_p.F170L|SFI1_ENST00000414585.1_Missense_Mutation_p.F170L|SFI1_ENST00000443326.1_Missense_Mutation_p.F241L|SFI1_ENST00000540643.1_Missense_Mutation_p.F299L	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	323					G2/M transition of mitotic cell cycle	centriole|cytosol		p.F323L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCAGATATACTTCTGTGACTG	0.547													3	94	---	---	---	---	0	0
TXN2	25828	broad.mit.edu	37	22	36876770	36876770	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:36876770G>A	ENST00000216185.2	-	2	581	c.115C>T	c.(115-117)Cct>Tct	p.P39S	TXN2_ENST00000403313.1_Missense_Mutation_p.P39S|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000487725.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	39					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	p.P39S(1)		breast(1)|lung(1)|prostate(1)	3						AGGCCACCAGGACTGCATTGT	0.552													35	86	---	---	---	---	0	0
CDPF1	150383	broad.mit.edu	37	22	46643050	46643050	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:46643050C>T	ENST00000314567.3	-	3	605	c.182G>A	c.(181-183)gGc>gAc	p.G61D	CDPF1_ENST00000404744.1_Missense_Mutation_p.G61D|CDPF1_ENST00000404583.1_Missense_Mutation_p.G61D|CDPF1_ENST00000475605.1_Intron	NM_207327.4	NP_997210.3			cysteine-rich, DPF motif domain containing 1									p.G61D(1)									GCAGCACGAGCCGAGGACCAG	0.597													3	24	---	---	---	---	0	0
TEX11	0	broad.mit.edu	37	X	69844762	69844762	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:69844762T>C	ENST00000395889.2	-	20	1821	c.1666A>G	c.(1666-1668)Att>Gtt	p.I556V	TEX11_ENST00000374320.2_Missense_Mutation_p.I231V|TEX11_ENST00000374333.2_Missense_Mutation_p.I541V|TEX11_ENST00000344304.3_Missense_Mutation_p.I556V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	556							protein binding	p.I541V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTGCCACAATTTGTTGTCCA	0.318													4	39	---	---	---	---	0	0
SMARCA1	6594	broad.mit.edu	37	X	128599698	128599698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:128599698G>T	ENST00000371122.4	-	23	2958	c.2829C>A	c.(2827-2829)taC>taA	p.Y943*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Y931*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Y931*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	943					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	p.Y943*(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATGGAGCCTTGTATCTTGCAA	0.328													69	20	---	---	---	---	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723412	7723412	+	Splice_Site	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:7723412G>T	ENST00000303635.7	+	9	1012		c.e9-1		CAMTA1_ENST00000439411.2_Splice_Site	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.?(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GATCTCCGCAGGAGCTGGCGG	0.607			T	WWTR1	epitheliod hemangioendothelioma								52	246	---	---	---	---	0	0
PRDM2	7799	broad.mit.edu	37	1	14105677	14105677	+	Missense_Mutation	SNP	G	G	A	rs143566559	by1000genomes	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:14105677G>A	ENST00000235372.7	+	8	2243	c.1387G>A	c.(1387-1389)Gct>Act	p.A463T	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	463						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A463T(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCAGAGAAGGCTTCCCAAGA	0.418													7	70	---	---	---	---	0	0
GBP3	2635	broad.mit.edu	37	1	89480252	89480252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:89480252G>A	ENST00000370481.4	-	4	626	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	136						integral to membrane	GTP binding|GTPase activity	p.Q136*(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATAGCCTGCTGGTTGATGGTT	0.512													24	158	---	---	---	---	0	0
SV2A	0	broad.mit.edu	37	1	149885321	149885321	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:149885321C>T	ENST00000369146.3	-	2	562	c.72G>A	c.(70-72)aaG>aaA	p.K24K	SV2A_ENST00000369145.1_Silent_p.K24K	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	24	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.K24K(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGCCGCATGCTTTTTGACTT	0.547													36	133	---	---	---	---	0	0
LAMC1	3915	broad.mit.edu	37	1	183106827	183106827	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:183106827A>C	ENST00000258341.4	+	26	4595	c.4338A>C	c.(4336-4338)gaA>gaC	p.E1446D		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1446	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.E1446D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAAGGCAGAAGCTGAAAGAA	0.373													8	66	---	---	---	---	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185269161	185269161	+	Silent	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:185269161A>G	ENST00000367498.3	-	13	2093	c.1471T>C	c.(1471-1473)Ttg>Ctg	p.L491L	IVNS1ABP_ENST00000392007.3_Silent_p.L273L|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	491					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		p.L491L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTTGTCCACAACTTTGTTACA	0.353													10	58	---	---	---	---	0	0
WNT9A	7483	broad.mit.edu	37	1	228111994	228111994	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:228111994C>T	ENST00000272164.5	-	3	470	c.460G>A	c.(460-462)Gca>Aca	p.A154T		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	154					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	p.A154T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				AGGTCGGGTGCCTCATCGCAG	0.642													30	178	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228456388	228456388	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:228456388C>T	ENST00000570156.2	+	19	5645	c.5571C>T	c.(5569-5571)cgC>cgT	p.R1857R	OBSCN_ENST00000359599.6_Silent_p.R329R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.R1673R|OBSCN_ENST00000422127.1_Silent_p.R1673R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	845	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R1673R(1)|p.R1765R(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAAAGTGCGCGTGGAGGCCG	0.682													16	154	---	---	---	---	0	0
DISC1	27185	broad.mit.edu	37	1	231830155	231830155	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:231830155T>C	ENST00000439617.2	+	2	704	c.651T>C	c.(649-651)ctT>ctC	p.L217L	DISC1_ENST00000602873.1_Intron|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000535983.1_Silent_p.L217L|DISC1_ENST00000537876.1_Silent_p.L217L|DISC1_ENST00000602281.1_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	217	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCTCTCGCTTGGCTCTGCCG	0.617													10	87	---	---	---	---	0	0
MYT1L	23040	broad.mit.edu	37	2	1926178	1926178	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:1926178C>T	ENST00000399161.2	-	10	2110	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E455K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	455					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E455K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCCCAGCTTCCATGGCCATC	0.532													32	207	---	---	---	---	0	0
BCL11A	53335	broad.mit.edu	37	2	60688396	60688396	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:60688396C>T	ENST00000335712.6	-	4	1878	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	551					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.V551M(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTGAGCACCATGCCCTGC	0.716			T	IGH@	B-CLL								4	43	---	---	---	---	0	0
UBR3	130507	broad.mit.edu	37	2	170938348	170938348	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:170938348C>T	ENST00000272793.5	+	39	5712	c.5662C>T	c.(5662-5664)Ctg>Ttg	p.L1888L	UBR3_ENST00000392631.1_Silent_p.L709L|UBR3_ENST00000418381.1_Silent_p.L1888L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1888					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	p.L741L(1)|p.L1888L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTACAATGGGCTGTGACTCTC	0.358													8	113	---	---	---	---	0	0
TLK1	9874	broad.mit.edu	37	2	171863509	171863509	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:171863509C>A	ENST00000442919.2	-	15	1952	c.1337G>T	c.(1336-1338)aGa>aTa	p.R446I	TLK1_ENST00000434911.2_Missense_Mutation_p.R398I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|TLK1_ENST00000431350.2_Missense_Mutation_p.R494I|TLK1_ENST00000360843.3_Missense_Mutation_p.R515I	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	494					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTCTCATCTCTCCAGCTTTT	0.294													6	60	---	---	---	---	0	0
ALS2CL	259173	broad.mit.edu	37	3	46724745	46724745	+	Silent	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:46724745C>A	ENST00000318962.4	-	10	1067	c.984G>T	c.(982-984)ctG>ctT	p.L328L	ALS2CL_ENST00000415953.1_Silent_p.L328L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	328					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCCAGCCCCCAGCACGGGGA	0.672													3	22	---	---	---	---	0	0
APPL1	26060	broad.mit.edu	37	3	57303570	57303570	+	Splice_Site	SNP	A	A	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:57303570A>T	ENST00000288266.3	+	22	2132	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	662					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.D662V(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTCCACTAGGACTTGGAAGAA	0.423													7	102	---	---	---	---	0	0
PLD1	5337	broad.mit.edu	37	3	171427351	171427351	+	Splice_Site	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:171427351A>G	ENST00000356327.5	-	10	1130	c.1060T>C	c.(1060-1062)Tgg>Cgg	p.W354R	PLD1_ENST00000342215.6_Splice_Site_p.W354R|PLD1_ENST00000351298.4_Splice_Site_p.W354R|PLD1_ENST00000340989.4_Splice_Site_p.W354R	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	354					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.W354R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATAACTTACCATTTAGCTAAA	0.378													10	106	---	---	---	---	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186793469	186793469	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:186793469G>T	ENST00000169298.3	+	8	1773	c.1099G>T	c.(1099-1101)Ggt>Tgt	p.G367C	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G367C|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.G136C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	367					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CTGCACGATGGGTGCCTACCA	0.517													5	65	---	---	---	---	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604158	13604158	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:13604158T>C	ENST00000040738.5	-	10	4501	c.4366A>G	c.(4366-4368)Aaa>Gaa	p.K1456E		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1456							DNA binding	p.K1456E(1)									TGCTTAAGTTTGACAGTTTCA	0.383													11	62	---	---	---	---	0	0
LRIT3	345193	broad.mit.edu	37	4	110791704	110791704	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:110791704G>C	ENST00000327908.3	+	4	2014	c.1250G>C	c.(1249-1251)tGt>tCt	p.C417S	LRIT3_ENST00000594814.1_Missense_Mutation_p.C600S|LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S|LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	555						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCATTGATTTGTTTCTTGTTG	0.383													7	101	---	---	---	---	0	0
PCDHA2	0	broad.mit.edu	37	5	140176233	140176233	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140176233G>A	ENST00000526136.1	+	1	1684	c.1684G>A	c.(1684-1686)Gcg>Acg	p.A562T	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1												p.A562T(4)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCACT	0.697													13	216	---	---	---	---	0	0
PCDHA13	0	broad.mit.edu	37	5	140263967	140263967	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140263967G>A	ENST00000289272.2	+	1	2114	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCATCTGCGCGGTGTCC	0.662													12	204	---	---	---	---	0	0
FILIP1	27145	broad.mit.edu	37	6	76022502	76022502	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:76022502C>T	ENST00000393004.2	-	5	3267	c.3046G>A	c.(3046-3048)Gca>Aca	p.A1016T	FILIP1_ENST00000237172.7_Missense_Mutation_p.A1016T|FILIP1_ENST00000370020.1_Missense_Mutation_p.A917T|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1016								p.A1016T(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCTGGTGCTGCTGATGTAGAC	0.488													27	187	---	---	---	---	0	0
ASB4	51666	broad.mit.edu	37	7	95157409	95157409	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:95157409A>G	ENST00000325885.5	+	3	843	c.772A>G	c.(772-774)Aag>Gag	p.K258E	ASB4_ENST00000428113.1_Missense_Mutation_p.K258E	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	258					intracellular signal transduction			p.K258E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TCCCCTCCACAAGGCAGCCTG	0.557											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	99	---	---	---	---	0	0
OR2A25	392138	broad.mit.edu	37	7	143771567	143771567	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:143771567G>A	ENST00000408898.2	+	1	293	c.255G>A	c.(253-255)ctG>ctA	p.L85L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L85L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGAACCTCCTGCATCCAGCCA	0.552													7	122	---	---	---	---	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616604	1616604	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:1616604C>T	ENST00000421627.2	+	6	1814	c.1680C>T	c.(1678-1680)gaC>gaT	p.D560D		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	639					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCACCCAGGACGCCTACCAGG	0.632													4	20	---	---	---	---	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998482	8998482	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:8998482C>T	ENST00000310455.3	-	2	830	c.680G>A	c.(679-681)gGc>gAc	p.G227D	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	227	CBM21.				glycogen metabolic process			p.G227D(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ATAGTTCTTGCCTCTGTTGCT	0.483													19	128	---	---	---	---	0	0
PXDNL	137902	broad.mit.edu	37	8	52321017	52321017	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:52321017C>T	ENST00000356297.4	-	17	3267	c.3167G>A	c.(3166-3168)gGc>gAc	p.G1056D	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1056D	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1056					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TAATGTGTGGCCAAATCTAAA	0.493													4	40	---	---	---	---	0	0
VPS13B	157680	broad.mit.edu	37	8	100454735	100454735	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:100454735G>A	ENST00000395996.1	+	23	3428	c.3317G>A	c.(3316-3318)gGa>gAa	p.G1106E	VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E|VPS13B_ENST00000358544.2_Missense_Mutation_p.G1106E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1106					protein transport			p.G1106E(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGTACCATGGACAAACCAGC	0.428													6	107	---	---	---	---	0	0
FAM91A1	157769	broad.mit.edu	37	8	124799551	124799551	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:124799551C>T	ENST00000334705.7	+	13	1375	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377C	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	377								p.R377C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ACACACGAAGCGCATCGCATT	0.388													12	85	---	---	---	---	0	0
ALG2	85365	broad.mit.edu	37	9	101980873	101980873	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:101980873G>A	ENST00000476832.1	-	2	655	c.594C>T	c.(592-594)gtC>gtT	p.V198V	ALG2_ENST00000319033.6_Silent_p.V105V	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	198					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.V198V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				ATGGATAGAGGACATCAGGGT	0.468													13	118	---	---	---	---	0	0
ZNF462	58499	broad.mit.edu	37	9	109689585	109689585	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:109689585T>C	ENST00000277225.5	+	3	3681	c.3392T>C	c.(3391-3393)gTc>gCc	p.V1131A	ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1131					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V1131A(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GGAGTGCTTGTCCACTACCAG	0.532													16	238	---	---	---	---	0	0
NUP188	23511	broad.mit.edu	37	9	131768055	131768055	+	Splice_Site	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:131768055G>T	ENST00000372577.2	+	41	4890	c.4869G>T	c.(4867-4869)gaG>gaT	p.E1623D		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1623					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.E1623D(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCTTGGAGAGGTAAGTTGGT	0.597													18	296	---	---	---	---	0	0
MFAP5	8076	broad.mit.edu	37	12	8804283	8804283	+	Silent	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:8804283G>T	ENST00000359478.2	-	7	409	c.222C>A	c.(220-222)tcC>tcA	p.S74S	MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000433590.2_Intron	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	74						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TTTCACTGAGGGAGGCTGAAA	0.433													8	167	---	---	---	---	0	0
TRPV4	59341	broad.mit.edu	37	12	110226321	110226321	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:110226321G>T	ENST00000418703.2	-	12	2186	c.2092C>A	c.(2092-2094)Ctg>Atg	p.L698M	TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M|TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M|TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M|TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	698					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.L698M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTCACCAGCAGGATGATGAAG	0.567													18	184	---	---	---	---	0	0
LIG4	3981	broad.mit.edu	37	13	108861451	108861451	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:108861451C>T	ENST00000356922.4	-	2	2438	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	LIG4_ENST00000442234.1_Silent_p.K722K|LIG4_ENST00000405925.1_Silent_p.K722K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	722	BRCT 1.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.K722K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GCCATGCAGGCTTGACAACAT	0.398								Non-homologous end-joining					11	124	---	---	---	---	0	0
COL4A2	1284	broad.mit.edu	37	13	111156530	111156530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:111156530G>T	ENST00000360467.5	+	45	4627	c.4321G>T	c.(4321-4323)Gga>Tga	p.G1441*	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1441	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G1441*(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGCCCCAAGGAAGAGGTGG	0.622													12	122	---	---	---	---	0	0
KCNH5	27133	broad.mit.edu	37	14	63175050	63175050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:63175050G>A	ENST00000322893.7	-	11	2411	c.2143C>T	c.(2143-2145)Cag>Tag	p.Q715*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	715	Calmodulin-binding (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.Q715*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCTTCTGCTGCTTGAACTTC	0.562													14	208	---	---	---	---	0	0
C14orf159	80017	broad.mit.edu	37	14	91647609	91647609	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:91647609T>C	ENST00000518868.1	+	11	1500	c.810T>C	c.(808-810)tgT>tgC	p.C270C	C14orf159_ENST00000523771.1_Silent_p.C265C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000525393.2_Silent_p.C141C|C14orf159_ENST00000522322.1_Silent_p.C265C|C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000523816.1_Silent_p.C265C			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	265						mitochondrion		p.C265C(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CACCTGGTTGTCTCACCCCAG	0.522													5	63	---	---	---	---	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756667	94756667	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:94756667T>C	ENST00000554723.1	-	2	802	c.384A>G	c.(382-384)cgA>cgG	p.R128R	SERPINA10_ENST00000261994.4_Silent_p.R88R|SERPINA10_ENST00000393096.1_Silent_p.R88R|SERPINA10_ENST00000554173.1_Silent_p.R88R			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	88					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R88R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGAGATCTTTCGCAGCAGGC	0.567													14	60	---	---	---	---	0	0
FAM214A	56204	broad.mit.edu	37	15	52970217	52970217	+	Translation_Start_Site	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:52970217A>G	ENST00000261844.7	-	2	154	c.2T>C	c.(1-3)aTg>aCg	p.M1T	FAM214A_ENST00000562351.1_5'UTR	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	1								p.M1T(1)									GTCTGGCTTCATTTTCACATC	0.453													14	134	---	---	---	---	0	0
DNAH9	1770	broad.mit.edu	37	17	11865470	11865470	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:11865470A>C	ENST00000262442.4	+	68	13198	c.13130A>C	c.(13129-13131)cAa>cCa	p.Q4377P	DNAH9_ENST00000608377.1_Missense_Mutation_p.Q689P|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGGCCCTGCAATGTGACATG	0.562													9	106	---	---	---	---	0	0
MYO1D	4642	broad.mit.edu	37	17	31087406	31087406	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:31087406T>C	ENST00000318217.5	-	10	1502	c.1198A>G	c.(1198-1200)Atc>Gtc	p.I400V	MYO1D_ENST00000394649.4_Missense_Mutation_p.I312V|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000583621.1_Missense_Mutation_p.I400V|MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	400	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CAGTAATTGATACAGAATTGT	0.368													7	150	---	---	---	---	0	0
TUBG2	27175	broad.mit.edu	37	17	40811928	40811928	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:40811928C>T	ENST00000251412.7	+	2	325	c.126C>T	c.(124-126)acC>acT	p.T42T		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	42					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AATTCGCCACCGAGGGCACTG	0.667													11	170	---	---	---	---	0	0
LAMA1	284217	broad.mit.edu	37	18	7007238	7007238	+	Missense_Mutation	SNP	G	G	A	rs138028986		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:7007238G>A	ENST00000389658.3	-	29	4253	c.4160C>T	c.(4159-4161)gCa>gTa	p.A1387V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1387	Laminin EGF-like 14; second part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCACTCCCTGCTGGGAGCTT	0.557													4	49	---	---	---	---	0	0
KLHL14	57565	broad.mit.edu	37	18	30350295	30350295	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:30350295G>T	ENST00000359358.4	-	2	698	c.260C>A	c.(259-261)cCg>cAg	p.P87Q	KLHL14_ENST00000358095.4_Missense_Mutation_p.P87Q|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	87	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ctgctgcggcggctgctgctg	0.726													4	54	---	---	---	---	0	0
KCNG2	26251	broad.mit.edu	37	18	77623902	77623902	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:77623902C>T	ENST00000316249.3	+	1	235	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	79					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GTGCGCCTTCCGCGCCATCGT	0.711													4	14	---	---	---	---	0	0
ADNP2	22850	broad.mit.edu	37	18	77896569	77896569	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:77896569T>C	ENST00000262198.4	+	4	3728	c.3273T>C	c.(3271-3273)ttT>ttC	p.F1091F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1091					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F1091F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTTCATTTTTTGGAAAAAGAA	0.308													9	98	---	---	---	---	0	0
ZNF557	79230	broad.mit.edu	37	19	7075115	7075115	+	Splice_Site	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:7075115C>T	ENST00000414706.1	+	3	503	c.30C>T	c.(28-30)gcC>gcT	p.A10A	ZNF557_ENST00000252840.6_Splice_Site_p.A10A|ZNF557_ENST00000439035.2_Splice_Site_p.A10A	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CCCCAACTGCCGGTGAGTCAT	0.642													9	126	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	8976368	8976368	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:8976368C>A	ENST00000397910.4	-	75	42663	c.42460G>T	c.(42460-42462)Ggc>Tgc	p.G14154C	MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.G795C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14185	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G14154C(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCCGGGGCCCACAGGGTCA	0.597													10	58	---	---	---	---	0	0
RAB3A	5864	broad.mit.edu	37	19	18313413	18313413	+	Silent	SNP	C	C	T	rs144222621		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:18313413C>T	ENST00000222256.4	-	2	316	c.138G>A	c.(136-138)tcG>tcA	p.S46S	RAB3A_ENST00000464076.3_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	46					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	p.S46S(2)		NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CAGGCGTGAACGAGTCGTCAG	0.542											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	273	---	---	---	---	0	0
ZBTB32	27033	broad.mit.edu	37	19	36206307	36206307	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:36206307C>A	ENST00000392197.2	+	3	1097	c.779C>A	c.(778-780)cCt>cAt	p.P260H	ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	260					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.P260H(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGGCCAGCCTGCCCTGTGG	0.672													14	135	---	---	---	---	0	0
ZNF574	64763	broad.mit.edu	37	19	42584668	42584668	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:42584668G>A	ENST00000600245.1	+	2	2565	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	ZNF574_ENST00000359044.4_Missense_Mutation_p.R637H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R637H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAGCCCCACCGCTGCCCATCC	0.701													10	199	---	---	---	---	0	0
ZNF71	58491	broad.mit.edu	37	19	57132798	57132798	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:57132798C>T	ENST00000328070.6	+	3	377	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	48						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCAGAGAGGCCGCGGGGAGAT	0.617													9	53	---	---	---	---	0	0
GRIK1	2897	broad.mit.edu	37	21	31062069	31062069	+	Missense_Mutation	SNP	C	C	T	rs143948570		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr21:31062069C>T	ENST00000399914.1	-	3	1044	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M|GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M|GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_Missense_Mutation_p.V175M|GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	175					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.V175M(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCATACACCACTGTCACTGTT	0.433													20	226	---	---	---	---	0	0
DHRSX	207063	broad.mit.edu	37	X	2184932	2184932	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:2184932C>T	ENST00000334651.5	-	5	497	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	149							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TAGTTCAGGCCGAAATGTTCT	0.527													23	253	---	---	---	---	0	0
FLNA	0	broad.mit.edu	37	X	153587627	153587627	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:153587627G>A	ENST00000422373.1	-	25	4538	c.4290C>T	c.(4288-4290)ggC>ggT	p.G1430G	FLNA_ENST00000369850.3_Silent_p.G1430G|FLNA_ENST00000360319.4_Silent_p.G1430G|FLNA_ENST00000344736.4_Silent_p.G1430G	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1430					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.G1430G(2)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCACTTGATGGCCACCATAGG	0.612													9	69	---	---	---	---	0	0
CSMD2	114784	broad.mit.edu	37	1	34112373	34112373	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:34112373G>A	ENST00000373381.4	-	29	4825	c.4649C>T	c.(4648-4650)cCt>cTt	p.P1550L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.P423L	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1510	CUB 9.					integral to membrane|plasma membrane	protein binding	p.P1510L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTATGAGAGGGCTGAGAGA	0.562													4	35	---	---	---	---	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35915489	35915489	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:35915489T>C	ENST00000325722.3	-	15	2566	c.2332A>G	c.(2332-2334)Acc>Gcc	p.T778A	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.T215A	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	778	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding	p.T778A(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCCACAGTGGTCCGGTCTGTG	0.488													22	154	---	---	---	---	0	0
SF3A3	10946	broad.mit.edu	37	1	38442585	38442585	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:38442585G>T	ENST00000373019.4	-	12	1931	c.976C>A	c.(976-978)Cag>Aag	p.Q326K	SF3A3_ENST00000448721.2_Missense_Mutation_p.Q273K	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	326					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCATAGATCTGGGCTTCTAGA	0.403													28	185	---	---	---	---	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704167	52704167	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:52704167G>C	ENST00000287727.3	+	4	1250	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D360H|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D360H			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	360					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.D360H(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACGGTGTTCAGATTGCCTTGT	0.428													17	206	---	---	---	---	0	0
SCN7A	6332	broad.mit.edu	37	2	167262388	167262388	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr2:167262388C>A	ENST00000409855.1	-	25	4877	c.4751G>T	c.(4750-4752)aGa>aTa	p.R1584I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1584					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1584I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACCCATAACTCTCTTTGTAAA	0.428													51	357	---	---	---	---	0	0
CDKN2AIPNL	91368	broad.mit.edu	37	5	133747428	133747428	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr5:133747428G>A	ENST00000458198.2	-	1	161	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	CDKN2AIPNL_ENST00000395009.3_Missense_Mutation_p.R40C	NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	40								p.R40C(1)		central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATTCCATGCGGGCCTTCCAT	0.677											OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	32	---	---	---	---	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86556150	86556150	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr7:86556150T>C	ENST00000450689.2	-	9	1357	c.1172A>G	c.(1171-1173)gAg>gGg	p.E391G	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E151G|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E224G|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E391G	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	391						integral to membrane		p.E151G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ATCCTTCTTCTCTCCAGAAGG	0.428													14	265	---	---	---	---	0	0
MET	0	broad.mit.edu	37	7	116340051	116340051	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr7:116340051A>G	ENST00000397752.3	+	2	1113	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E	MET_ENST00000436117.2_Missense_Mutation_p.K305E|MET_ENST00000318493.6_Missense_Mutation_p.K305E	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	305	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.K305E(2)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGAAAAGAGAAAAAAGAGATC	0.428			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				11	202	---	---	---	---	0	0
RP1	6101	broad.mit.edu	37	8	55540711	55540711	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr8:55540711T>A	ENST00000220676.1	+	4	4417	c.4269T>A	c.(4267-4269)tgT>tgA	p.C1423*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1423					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.C1423*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGAAAATTGTTCACTAAGGA	0.363													15	110	---	---	---	---	0	0
MSC	9242	broad.mit.edu	37	8	72756371	72756371	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr8:72756371G>A	ENST00000325509.4	-	1	332	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	15					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R15W(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGCAGCCCCCGAAGCTCCATC	0.692													4	21	---	---	---	---	0	0
RNF26	79102	broad.mit.edu	37	11	119207000	119207000	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr11:119207000G>T	ENST00000311413.4	+	1	1764	c.1168G>T	c.(1168-1170)Gtg>Ttg	p.V390L	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	390							zinc ion binding	p.V390L(1)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GAGCAAGACAGTGTTGCTCCT	0.607													16	95	---	---	---	---	0	0
SBNO1	55206	broad.mit.edu	37	12	123834911	123834911	+	Silent	SNP	A	A	G			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr12:123834911A>G	ENST00000420886.2	-	1	77	c.78T>C	c.(76-78)atT>atC	p.I26I	SBNO1_ENST00000267176.4_Silent_p.I26I|SBNO1_ENST00000602398.1_Silent_p.I26I|SBNO1_ENST00000602750.1_Silent_p.I26I	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	26							ATP binding|DNA binding|hydrolase activity	p.I26I(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTCCACCATCAATATCAAAGA	0.438													16	386	---	---	---	---	0	0
INTS6	26512	broad.mit.edu	37	13	51942011	51942011	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr13:51942011G>T	ENST00000311234.4	-	17	2972	c.2500C>A	c.(2500-2502)Ctg>Atg	p.L834M	INTS6_ENST00000497989.1_Missense_Mutation_p.L656M|INTS6_ENST00000425000.1_Missense_Mutation_p.L402M|INTS6_ENST00000463928.1_3'UTR|INTS6_ENST00000490542.1_Missense_Mutation_p.L518M|INTS6_ENST00000398119.2_Missense_Mutation_p.L821M	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	834					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	p.L834M(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ACATGCTTCAGTAAAGTGAAG	0.269													3	76	---	---	---	---	0	0
PRMT5	10419	broad.mit.edu	37	14	23397824	23397824	+	Splice_Site	SNP	C	C	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr14:23397824C>A	ENST00000324366.8	-	2	334	c.111G>T	c.(109-111)ggG>ggT	p.G37G	PRMT5_ENST00000538452.1_Intron|PRMT5_ENST00000553897.1_Splice_Site_p.G37G|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000216350.8_Splice_Site_p.G20G|PRMT5_ENST00000397440.4_Splice_Site_p.G20G|PRMT5_ENST00000397441.2_Splice_Site_p.G20G	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	37					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.G37G(1)|p.G20G(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GGAAATCAAACCTACAACCGC	0.512													4	100	---	---	---	---	0	0
ATG2B	55102	broad.mit.edu	37	14	96800092	96800092	+	Silent	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr14:96800092G>A	ENST00000359933.4	-	8	2033	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	380								p.L380L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CACCCACAGAGAGGGAATCTT	0.413													4	165	---	---	---	---	0	0
FBN1	2200	broad.mit.edu	37	15	48729540	48729540	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr15:48729540C>T	ENST00000316623.5	-	52	6813	c.6358G>A	c.(6358-6360)Gga>Aga	p.G2120R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2120					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.G2120R(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATCAGGTCCCACGATGATC	0.423													3	59	---	---	---	---	0	0
SLC13A5	284111	broad.mit.edu	37	17	6597493	6597493	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr17:6597493G>A	ENST00000433363.2	-	8	1312	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	SLC13A5_ENST00000293800.6_Missense_Mutation_p.A343V|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A360V|SLC13A5_ENST00000381074.4_Missense_Mutation_p.A317V	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	360						integral to membrane	citrate transmembrane transporter activity	p.A360V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CACAAAGATGGCCACAGTGGC	0.522													6	28	---	---	---	---	0	0
MARK4	57787	broad.mit.edu	37	19	45762287	45762287	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr19:45762287C>T	ENST00000300843.4	+	2	389	c.92C>T	c.(91-93)cCg>cTg	p.P31L	MARK4_ENST00000262891.4_Missense_Mutation_p.P31L	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	31					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	p.P31L(2)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GACAAAGGCCCGTCCTGGTCC	0.672													6	26	---	---	---	---	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768703	51768703	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr19:51768703C>T	ENST00000316401.7	+	3	485	c.104C>T	c.(103-105)cCc>cTc	p.P35L	SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1									p.P35L(1)									ATTCCCACACCCTCTGTGCAG	0.587													29	152	---	---	---	---	0	0
NPEPL1	79716	broad.mit.edu	37	20	57290253	57290253	+	Silent	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr20:57290253C>T	ENST00000356091.6	+	12	1731	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	NPEPL1_ENST00000525817.1_Silent_p.A433A|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Silent_p.A453A	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	481					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	p.A481A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TCGGTGTGGCCCTCCTGCTGG	0.672													5	9	---	---	---	---	0	0
CDR1	1038	broad.mit.edu	37	X	139866376	139866376	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chrX:139866376C>A	ENST00000370532.2	-	1	347	c.156G>T	c.(154-156)ttG>ttT	p.L52F		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	52	23 X 6 AA approximate repeats.							p.L52F(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCACGTCTTCCAACAAAGCCA	0.438													37	101	---	---	---	---	0	0
TMEM56	148534	broad.mit.edu	37	1	95616924	95616924	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:95616924A>T	ENST00000370203.4	+	5	639	c.348A>T	c.(346-348)aaA>aaT	p.K116N	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.K116N	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	116	TLC.					integral to membrane		p.K116N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TTGGTGACAAATTTTTTATAA	0.348													7	188	---	---	---	---	0	0
OR6N1	128372	broad.mit.edu	37	1	158736387	158736387	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:158736387A>T	ENST00000335094.2	-	1	105	c.86T>A	c.(85-87)cTc>cAc	p.L29H		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L29H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AAGCAACAAGAGGAAGAGATA	0.502													4	88	---	---	---	---	0	0
AIM2	9447	broad.mit.edu	37	1	159038445	159038445	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:159038445T>G	ENST00000368130.4	-	3	597	c.309A>C	c.(307-309)caA>caC	p.Q103H	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	103					cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.Q103H(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TCATTTCAGCTTGACTTAGTG	0.408													7	266	---	---	---	---	0	0
DTL	51514	broad.mit.edu	37	1	212274088	212274088	+	Silent	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:212274088T>C	ENST00000366991.4	+	14	2070	c.1756T>C	c.(1756-1758)Ttg>Ctg	p.L586L	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.L544L	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	586					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	p.L586L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AAATCTTCATTTGGATCTGTG	0.453													16	169	---	---	---	---	0	0
C2orf71	388939	broad.mit.edu	37	2	29296170	29296170	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:29296170G>A	ENST00000331664.5	-	1	957	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	320			R -> C.		response to stimulus|visual perception	photoreceptor outer segment		p.R320C(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCAGGAGGCGTTCATCCACA	0.597													38	246	---	---	---	---	0	0
MYL1	4632	broad.mit.edu	37	2	211179711	211179711	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:211179711G>A	ENST00000352451.3	-	1	203	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	19					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	p.A19V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		cggtgccggggctggggcAGC	0.502													8	91	---	---	---	---	0	0
CASR	846	broad.mit.edu	37	3	122003254	122003254	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr3:122003254G>T	ENST00000498619.1	+	7	2921	c.2483G>T	c.(2482-2484)tGg>tTg	p.W828L	CASR_ENST00000490131.1_Missense_Mutation_p.W818L|CASR_ENST00000296154.5_Missense_Mutation_p.W818L	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	818					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.W818L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTCATCGTCTGGATCTCCTTC	0.527													4	156	---	---	---	---	0	0
HTT	3064	broad.mit.edu	37	4	3148562	3148562	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:3148562G>A	ENST00000355072.5	+	25	3327	c.3182G>A	c.(3181-3183)aGc>aAc	p.S1061N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1061					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.S1061N(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTAGGAAGAGCTGTACCGTT	0.468													14	637	---	---	---	---	0	0
KLHL5	51088	broad.mit.edu	37	4	39064620	39064620	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:39064620T>G	ENST00000261425.3	+	2	500	c.348T>G	c.(346-348)agT>agG	p.S116R	KLHL5_ENST00000381930.3_Missense_Mutation_p.S162R|KLHL5_ENST00000359687.2_Missense_Mutation_p.S162R|KLHL5_ENST00000504108.1_Missense_Mutation_p.S162R|KLHL5_ENST00000261426.5_Missense_Mutation_p.S162R|KLHL5_ENST00000508137.2_Intron	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	162						cytoplasm|cytoskeleton	actin binding	p.S162R(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGCACTAGTGAAGAAGAAA	0.418													6	168	---	---	---	---	0	0
LYSMD3	116068	broad.mit.edu	37	5	89815106	89815106	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:89815106G>C	ENST00000315948.6	-	3	595	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	151					cell wall macromolecule catabolic process	integral to membrane		p.L151V(1)		breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CTGTAAGCAAGAGAATCATTA	0.393													4	197	---	---	---	---	0	0
PCDHA10	0	broad.mit.edu	37	5	140237082	140237082	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140237082G>A	ENST00000307360.5	+	1	1449	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A483A|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1												p.A483A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.662													6	210	---	---	---	---	0	0
PCDHGA2	0	broad.mit.edu	37	5	140720422	140720422	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140720422G>A	ENST00000394576.2	+	1	1884	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.T628T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.682													14	154	---	---	---	---	0	0
PCDHGA10	0	broad.mit.edu	37	5	140794395	140794395	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140794395G>A	ENST00000398610.2	+	1	1653	c.1653G>A	c.(1651-1653)tcG>tcA	p.S551S	PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1												p.S551S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGTCGTTGAGCCTGT	0.597													10	329	---	---	---	---	0	0
FAT2	2196	broad.mit.edu	37	5	150928993	150928993	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:150928993T>C	ENST00000261800.5	-	8	4664	c.4652A>G	c.(4651-4653)cAc>cGc	p.H1551R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1551	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.H1551R(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGGGTGGGTGGAGGTTTCC	0.567													7	94	---	---	---	---	0	0
EYS	346007	broad.mit.edu	37	6	66205045	66205045	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr6:66205045T>C	ENST00000503581.1	-	4	796	c.259A>G	c.(259-261)Atc>Gtc	p.I87V	EYS_ENST00000370618.3_Missense_Mutation_p.I87V|EYS_ENST00000342421.5_Missense_Mutation_p.I87V|EYS_ENST00000393380.2_Missense_Mutation_p.I87V|EYS_ENST00000370616.2_Missense_Mutation_p.I87V|EYS_ENST00000370621.3_Missense_Mutation_p.I87V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	87					response to stimulus|visual perception	extracellular region	calcium ion binding	p.I87V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTACAAGGATATCTCCTAAT	0.363													7	228	---	---	---	---	0	0
MEOX2	4223	broad.mit.edu	37	7	15725595	15725595	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:15725595C>T	ENST00000262041.5	-	1	842	c.433G>A	c.(433-435)Gcg>Acg	p.A145T		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	145					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A145T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCCCCCGGCGCGCACGCGGCC	0.711													5	219	---	---	---	---	0	0
HECW1	23072	broad.mit.edu	37	7	43484982	43484982	+	Silent	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:43484982C>T	ENST00000395891.2	+	11	2816	c.2211C>T	c.(2209-2211)gaC>gaT	p.D737D	HECW1_ENST00000453890.1_Silent_p.D737D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.D737D(2)|p.D716D(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTCGCAAGACGACGAGGAGG	0.652													76	122	---	---	---	---	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603105	138603105	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:138603105C>G	ENST00000440172.1	-	2	1315	c.1267G>C	c.(1267-1269)Gcc>Ccc	p.A423P	KIAA1549_ENST00000422774.1_Missense_Mutation_p.A423P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A373P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	423						integral to membrane		p.A423P(1)|p.A373P(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACAGTGCAGGCCGCACACCAA	0.562			O	BRAF	pilocytic astrocytoma								57	80	---	---	---	---	0	0
OR2A5	393046	broad.mit.edu	37	7	143747902	143747902	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:143747902G>A	ENST00000408906.2	+	1	442	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M136I(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGTCATCATGAGATGGGGAG	0.512													7	441	---	---	---	---	0	0
ZNF783	100289678	broad.mit.edu	37	7	148979201	148979201	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:148979201T>A	ENST00000434415.1	+	6	1571	c.1408T>A	c.(1408-1410)Tac>Aac	p.Y470N	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	470					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.Y470N(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CGCCTGCCCCTACTGCGGCAA	0.706													7	41	---	---	---	---	0	0
KCNB2	9312	broad.mit.edu	37	8	73480433	73480433	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr8:73480433A>T	ENST00000523207.1	+	2	1052	c.464A>T	c.(463-465)gAg>gTg	p.E155V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	155					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E155V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGAGGCGAGAGGCAGAGACT	0.453													9	185	---	---	---	---	0	0
GDF6	392255	broad.mit.edu	37	8	97156855	97156855	+	Missense_Mutation	SNP	G	G	A	rs140782427		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr8:97156855G>A	ENST00000287020.5	-	2	1403	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	435					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.A435V(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ATTATTGCCCGCGTCGATGTA	0.602													7	56	---	---	---	---	0	0
CCDC171	203238	broad.mit.edu	37	9	15744747	15744747	+	Silent	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:15744747A>G	ENST00000380701.3	+	17	2854	c.2526A>G	c.(2524-2526)ggA>ggG	p.G842G	CCDC171_ENST00000297641.3_Silent_p.G842G	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	842								p.G842G(1)|p.G109G(1)									TGTGCACAGGAGAGCCCCAAG	0.398													34	57	---	---	---	---	0	0
IFNA10	3446	broad.mit.edu	37	9	21206631	21206631	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:21206631C>G	ENST00000357374.2	-	1	511	c.466G>C	c.(466-468)Gag>Cag	p.E156Q		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	156					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.E156Q(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TATTTCCTCTCTATTAGATAA	0.448													8	723	---	---	---	---	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971518	34971518	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:34971518G>A	ENST00000242315.3	+	2	305	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	KIAA1045_ENST00000544237.1_Missense_Mutation_p.G75S|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	75							calcium ion binding	p.G75S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGTAGTGCCGGCCGCGCAGC	0.652													67	103	---	---	---	---	0	0
GFI1B	8328	broad.mit.edu	37	9	135866396	135866396	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:135866396G>A	ENST00000339463.3	+	11	1771	c.952G>A	c.(952-954)Gac>Aac	p.D318N	GFI1B_ENST00000372124.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372123.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372122.1_Missense_Mutation_p.D318N|GFI1B_ENST00000450530.1_Missense_Mutation_p.D318N|GFI1B_ENST00000534944.1_Missense_Mutation_p.D272N			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	318	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.D318N(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCGCAAGGTGGACCTGCGGCG	0.652													35	128	---	---	---	---	0	0
CHAT	1103	broad.mit.edu	37	10	50835688	50835688	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:50835688G>A	ENST00000395562.2	+	8	1191	c.722G>A	c.(721-723)cGt>cAt	p.R241H	CHAT_ENST00000455728.2_Missense_Mutation_p.R205H|CHAT_ENST00000351556.3_Missense_Mutation_p.R205H|CHAT_ENST00000395559.2_Missense_Mutation_p.R205H|CHAT_ENST00000337653.2_Missense_Mutation_p.R323H|CHAT_ENST00000339797.1_Missense_Mutation_p.R205H	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	323					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.R323H(2)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AATTTCCGCCGTCTCAGTGAG	0.512													10	380	---	---	---	---	0	0
SORBS1	10580	broad.mit.edu	37	10	97192294	97192294	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:97192294A>T	ENST00000371247.2	-	6	401	c.212T>A	c.(211-213)gTg>gAg	p.V71E	SORBS1_ENST00000371249.2_Missense_Mutation_p.V39E|SORBS1_ENST00000361941.3_Missense_Mutation_p.V71E|SORBS1_ENST00000353505.5_Missense_Mutation_p.V71E|SORBS1_ENST00000371241.1_Missense_Mutation_p.V39E|SORBS1_ENST00000371239.1_Missense_Mutation_p.V39E|SORBS1_ENST00000306402.6_Missense_Mutation_p.V71E|SORBS1_ENST00000277982.5_Missense_Mutation_p.V71E|SORBS1_ENST00000393949.1_Missense_Mutation_p.V71E|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371246.2_Missense_Mutation_p.V71E|SORBS1_ENST00000347291.4_Missense_Mutation_p.V71E|SORBS1_ENST00000371245.3_Missense_Mutation_p.V71E|SORBS1_ENST00000371227.4_Missense_Mutation_p.V71E|SORBS1_ENST00000607232.1_Missense_Mutation_p.V39E|SORBS1_ENST00000354106.3_Missense_Mutation_p.V71E			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	71					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.V71E(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CCGGAGAGTCACCGCTCCCTT	0.517													4	128	---	---	---	---	0	0
COL17A1	1308	broad.mit.edu	37	10	105798243	105798243	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:105798243G>A	ENST00000353479.5	-	45	3281	c.2991C>T	c.(2989-2991)ccC>ccT	p.P997P	COL17A1_ENST00000369733.3_Silent_p.P952P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	997	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P997P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGGCCCAGGGGGCCCTGGCG	0.602													15	340	---	---	---	---	0	0
SORCS3	22986	broad.mit.edu	37	10	106959827	106959827	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:106959827C>T	ENST00000369701.3	+	15	2307	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	694						integral to membrane	neuropeptide receptor activity	p.R694W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATCTTCAGCCGGCATTGCAC	0.532													7	214	---	---	---	---	0	0
TDRD1	56165	broad.mit.edu	37	10	115986961	115986961	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:115986961A>C	ENST00000251864.2	+	23	3459	c.3306A>C	c.(3304-3306)aaA>aaC	p.K1102N	TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.K988N|TDRD1_ENST00000369282.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1102					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.K1102N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAGTTGAGAAATGTTCTGAGA	0.343													72	130	---	---	---	---	0	0
PSMA1	5682	broad.mit.edu	37	11	14535392	14535392	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:14535392C>A	ENST00000530457.1	-	6	840	c.310G>T	c.(310-312)Ggt>Tgt	p.G104C	PSMA1_ENST00000555531.1_Intron|PSMA1_ENST00000418988.2_Missense_Mutation_p.G135C|PSMA1_ENST00000419365.2_Intron|PSMA1_ENST00000396394.2_Missense_Mutation_p.G129C|PSMA1_ENST00000396393.1_Missense_Mutation_p.G129C			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	129					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	p.G135C(1)		large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AGACCAACACCATATGGTCTC	0.308													3	69	---	---	---	---	0	0
OR5D18	219438	broad.mit.edu	37	11	55587401	55587401	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:55587401T>C	ENST00000333976.4	+	1	316	c.296T>C	c.(295-297)gTa>gCa	p.V99A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V99A(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTAGGATGCGTAGTACAATTC	0.428													9	502	---	---	---	---	0	0
OR4D6	219983	broad.mit.edu	37	11	59225135	59225135	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:59225135C>G	ENST00000300127.2	+	1	725	c.702C>G	c.(700-702)aaC>aaG	p.N234K		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N234K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AGGGGCGGAACAAGGCCCTCT	0.587													4	149	---	---	---	---	0	0
TIGD3	220359	broad.mit.edu	37	11	65123520	65123520	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:65123520G>C	ENST00000309880.5	+	2	448	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	81	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.E81Q(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CGGGATCGACGAGGCTCTGCT	0.627													9	172	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92088335	92088335	+	Silent	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:92088335C>A	ENST00000298047.6	+	1	3074	c.3057C>A	c.(3055-3057)gtC>gtA	p.V1019V	FAT3_ENST00000541502.1_Silent_p.V1019V|FAT3_ENST00000525166.1_Silent_p.V869V|FAT3_ENST00000409404.2_Silent_p.V1019V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1019	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1019V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGCGGCCTGTCTCTCTGTCAT	0.463										TCGA Ovarian(4;0.039)			4	82	---	---	---	---	0	0
CASP1	834	broad.mit.edu	37	11	104899864	104899864	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:104899864G>C	ENST00000533400.1	-	7	1028	c.993C>G	c.(991-993)tgC>tgG	p.C331W	CASP1_ENST00000593315.1_Missense_Mutation_p.C310W|CASP1_ENST00000436863.3_Missense_Mutation_p.C331W|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.C310W|CASP1_ENST00000598974.1_Missense_Mutation_p.C331W|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.C294W|CASP1_ENST00000526568.1_Missense_Mutation_p.C238W|CASP1_ENST00000528974.1_Missense_Mutation_p.C292W|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.C310W	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	331					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.C331W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GTGTGGAAGAGCAGAAAGCGA	0.408													13	106	---	---	---	---	0	0
BACE1	23621	broad.mit.edu	37	11	117186309	117186309	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:117186309C>G	ENST00000313005.6	-	1	663	c.203G>C	c.(202-204)aGg>aCg	p.R68T	BACE1_ENST00000428381.2_Missense_Mutation_p.R68T|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Missense_Mutation_p.R68T|BACE1_ENST00000513780.1_Missense_Mutation_p.R68T|BACE1_ENST00000445823.2_Missense_Mutation_p.R68T	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	68					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	p.R68T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CGACTTGCCCCTCAGGTTGTC	0.711													12	31	---	---	---	---	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844094	128844094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:128844094C>A	ENST00000310343.9	-	20	2955	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E637*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E912*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E637*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	986					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.E637*(2)|p.E986*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCTGGCAATTCTACTTCTTCA	0.478													6	215	---	---	---	---	0	0
FKBP4	2288	broad.mit.edu	37	12	2910444	2910444	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:2910444G>T	ENST00000001008.4	+	9	1381	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	398	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	p.Q398H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	TGTGCCAGCAGCGGATCCGAA	0.567													37	195	---	---	---	---	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717457	13717457	+	Silent	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:13717457G>T	ENST00000609686.1	-	13	2924	c.2715C>A	c.(2713-2715)gcC>gcA	p.A905A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A905A(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCATGTTCTTGGCCGTGCGCA	0.592													17	326	---	---	---	---	0	0
AVPR1A	0	broad.mit.edu	37	12	63543828	63543828	+	Silent	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:63543828A>G	ENST00000299178.2	-	1	894	c.789T>C	c.(787-789)ggT>ggC	p.G263G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	263					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G263G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGAAGGCCACACCCGCTTGCT	0.587													11	273	---	---	---	---	0	0
MIR758	0	broad.mit.edu	37	14	101492436	101492436	+	RNA	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr14:101492436A>T	ENST00000390227.1	+	0	80					NR_030406.1																						AACCCTCAGTATCTAATGCCC	0.507													8	226	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417068	105417068	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr14:105417068C>G	ENST00000333244.5	-	7	4839	c.4720G>C	c.(4720-4722)Ggg>Cgg	p.G1574R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1574						nucleus		p.G1574R(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCAGGTGCCCTTTGAGGCCG	0.607													10	657	---	---	---	---	0	0
ABHD2	11057	broad.mit.edu	37	15	89736470	89736470	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr15:89736470A>G	ENST00000352732.5	+	10	1521	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	ABHD2_ENST00000355100.3_Missense_Mutation_p.Y334C|ABHD2_ENST00000565973.1_Missense_Mutation_p.Y334C	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	334						integral to membrane	carboxylesterase activity	p.Y334C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGCAGATTTATGTTCCTCTC	0.408													33	123	---	---	---	---	0	0
SNX29	92017	broad.mit.edu	37	16	12136844	12136844	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:12136844G>T	ENST00000566228.1	+	5	407	c.338G>T	c.(337-339)gGc>gTc	p.G113V	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding	p.G113V(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TCAGACGTGGGCCGGGGTCGC	0.652													4	58	---	---	---	---	0	0
ACSM3	6296	broad.mit.edu	37	16	20792044	20792044	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:20792044G>C	ENST00000289416.5	+	5	1122	c.647G>C	c.(646-648)aGt>aCt	p.S216T	ERI2_ENST00000300005.3_Missense_Mutation_p.L303V|ACSM3_ENST00000450120.2_Missense_Mutation_p.S208T|ACSM3_ENST00000440284.2_Missense_Mutation_p.S216T	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	216					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.S216T(1)|p.L303V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGACATGCCAGTGACAGCCAC	0.428													5	219	---	---	---	---	0	0
HERPUD1	9709	broad.mit.edu	37	16	56976046	56976046	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:56976046A>G	ENST00000439977.2	+	7	1105	c.908A>G	c.(907-909)cAt>cGt	p.H303R	HERPUD1_ENST00000379792.2_Missense_Mutation_p.H278R|HERPUD1_ENST00000344114.4_Missense_Mutation_p.H144R|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.H302R	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	303						endoplasmic reticulum membrane|integral to membrane	protein binding	p.H302R(1)|p.H303R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTTGAAGGCATCACGTTGGG	0.478			T	ERG	prostate								10	263	---	---	---	---	0	0
CDH13	1012	broad.mit.edu	37	16	83704517	83704517	+	Silent	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:83704517G>C	ENST00000566620.1	+	9	1514	c.1224G>C	c.(1222-1224)ggG>ggC	p.G408G	CDH13_ENST00000428848.3_Silent_p.G369G|CDH13_ENST00000268613.10_Silent_p.G455G	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	408	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.G408G(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAAACCCCGGGCAGAGCTTTG	0.502													10	221	---	---	---	---	0	0
PER1	5187	broad.mit.edu	37	17	8052022	8052022	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:8052022C>A	ENST00000317276.4	-	8	1225	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	PER1_ENST00000581082.1_Missense_Mutation_p.G310W|PER1_ENST00000354903.5_Missense_Mutation_p.G314W	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	330					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.G330W(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCAGGGGCCCCATCTGAGACC	0.642			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					5	203	---	---	---	---	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792523	8792523	+	Silent	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:8792523C>T	ENST00000447110.1	-	9	952	c.828G>A	c.(826-828)ggG>ggA	p.G276G	PIK3R5_ENST00000581552.1_Silent_p.G276G|PIK3R5_ENST00000584803.1_Silent_p.G276G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	276				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus		p.G276G(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGTGGAGCTTCCCTGGTTTTG	0.592													17	48	---	---	---	---	0	0
MYH1	4619	broad.mit.edu	37	17	10405105	10405105	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:10405105G>T	ENST00000226207.5	-	25	3329	c.3235C>A	c.(3235-3237)Caa>Aaa	p.Q1079K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1079						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.Q1079K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATCAAGTTGTTGTTTGTCA	0.343													11	78	---	---	---	---	0	0
SLFN5	162394	broad.mit.edu	37	17	33588030	33588030	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:33588030G>C	ENST00000299977.4	+	3	1201	c.1053G>C	c.(1051-1053)ttG>ttC	p.L351F	SLFN5_ENST00000542451.1_Missense_Mutation_p.L351F	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	351					cell differentiation		ATP binding	p.L351F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGTTGAGTTTGTCATCTGCCA	0.468													13	281	---	---	---	---	0	0
RSAD1	55316	broad.mit.edu	37	17	48557076	48557076	+	Silent	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:48557076T>C	ENST00000258955.2	+	2	307	c.222T>C	c.(220-222)tgT>tgC	p.C74C		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	74					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	p.C74C(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGCAGAAGTGTCTGGTGACCG	0.597											OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	86	---	---	---	---	0	0
HOOK2	29911	broad.mit.edu	37	19	12878871	12878871	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:12878871G>A	ENST00000264827.5	-	12	1341	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.R391C	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	391	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	p.R391C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCCAGGTTGCGGCATTCAAAT	0.572													5	281	---	---	---	---	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572844	38572844	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:38572844G>T	ENST00000222345.6	+	3	1148	c.639G>T	c.(637-639)atG>atT	p.M213I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	213					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.M213I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGCAGGGCATGCCCGAGCAGA	0.721													4	148	---	---	---	---	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890815	31890815	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr20:31890815C>A	ENST00000253354.1	+	11	1236	c.1075C>A	c.(1075-1077)Caa>Aaa	p.Q359K	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	359						extracellular space	lipid binding	p.Q359K(1)									CAAGGTGGCCCAACTGATCGT	0.532													23	76	---	---	---	---	0	0
BRD1	23774	broad.mit.edu	37	22	50217746	50217746	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:50217746T>C	ENST00000216267.8	-	1	706	c.220A>G	c.(220-222)Aac>Gac	p.N74D	BRD1_ENST00000404760.1_Missense_Mutation_p.N74D|BRD1_ENST00000404034.1_Missense_Mutation_p.N74D|BRD1_ENST00000457780.2_Missense_Mutation_p.N74D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	74					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.N74D(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTGTTGCTGTTGCACTCACTC	0.473													6	200	---	---	---	---	0	0
LMF2	91289	broad.mit.edu	37	22	50941923	50941923	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:50941923C>T	ENST00000216080.5	-	14	2114	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	LMF2_ENST00000474879.2_Missense_Mutation_p.R674H|LMF2_ENST00000380796.3_Missense_Mutation_p.R561H			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	674						endoplasmic reticulum membrane|integral to membrane		p.R649H(1)		breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCTGGCCTGCGCTTCTCCCC	0.662													6	34	---	---	---	---	0	0
PDK3	5165	broad.mit.edu	37	X	24516991	24516991	+	Silent	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:24516991C>T	ENST00000441463.2	+	3	294	c.294C>T	c.(292-294)agC>agT	p.S98S	PDK3_ENST00000379162.4_Silent_p.S98S|PDK3_ENST00000493226.1_3'UTR	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	98					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.S98S(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAAATAAGAGCCCTGAGGATC	0.323													31	14	---	---	---	---	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913571	77913571	+	Missense_Mutation	SNP	G	G	A	rs144237768		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:77913571G>A	ENST00000321110.1	-	2	642	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	116	Pro-rich.						nucleic acid binding|zinc ion binding	p.A116V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGCTGGAGGCGCCAGGGACTC	0.627													5	49	---	---	---	---	0	0
SPRY3	10251	broad.mit.edu	37	X	155003970	155003970	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:155003970T>A	ENST00000302805.2	+	2	868	c.437T>A	c.(436-438)aTc>aAc	p.I146N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	146					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		p.I146N(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACCTCTTCATCTGTGAGGAA	0.612													7	221	---	---	---	---	0	0
MAST2	23139	broad.mit.edu	37	1	46497980	46497980	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:46497980C>T	ENST00000361297.2	+	25	3601	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1106	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCCCATCATCATCCACCGAG	0.572													4	117	---	---	---	---	0	0
COL11A1	1301	broad.mit.edu	37	1	103544235	103544235	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:103544235G>A	ENST00000358392.2	-	3	784	c.467C>T	c.(466-468)aCt>aTt	p.T156I	COL11A1_ENST00000512756.1_Missense_Mutation_p.T156I|COL11A1_ENST00000353414.4_Missense_Mutation_p.T156I|COL11A1_ENST00000370096.3_Missense_Mutation_p.T156I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	156	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.T156I(2)|p.T156S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATGTTAACAGTTCTGAAGAG	0.368													68	88	---	---	---	---	0	0
KIF14	9928	broad.mit.edu	37	1	200587742	200587742	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:200587742T>G	ENST00000367350.4	-	2	548	c.110A>C	c.(109-111)aAg>aCg	p.K37T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	37	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	p.K37T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CAAATGCAGCTTAAGTCGGCT	0.368													48	161	---	---	---	---	0	0
LGR6	59352	broad.mit.edu	37	1	202245638	202245638	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:202245638C>T	ENST00000367278.3	+	5	722	c.633C>T	c.(631-633)agC>agT	p.S211S	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Silent_p.S159S|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	211						integral to membrane|plasma membrane	protein-hormone receptor activity	p.S211S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ATCTCACCAGCCTTGTGGTGC	0.617													12	19	---	---	---	---	0	0
STAMBP	10617	broad.mit.edu	37	2	74072296	74072296	+	Silent	SNP	A	A	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:74072296A>G	ENST00000394070.2	+	4	785	c.282A>G	c.(280-282)aaA>aaG	p.K94K	STAMBP_ENST00000394073.1_Silent_p.K94K|STAMBP_ENST00000409707.1_Silent_p.K94K|STAMBP_ENST00000339566.3_Silent_p.K94K|STAMBP_ENST00000536064.1_Silent_p.K94K	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	94	Interaction with CHMP3.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	p.K94K(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						TGTCTCAGAAATTAAAGGAGA	0.343													41	53	---	---	---	---	0	0
HJURP	55355	broad.mit.edu	37	2	234756069	234756069	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:234756069C>G	ENST00000411486.2	-	5	441	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	HJURP_ENST00000432087.1_Intron|HJURP_ENST00000441687.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	126					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.E126Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACTGACTCTTCCTGGTCTGAC	0.488													7	128	---	---	---	---	0	0
SUMF1	285362	broad.mit.edu	37	3	4458835	4458835	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:4458835C>T	ENST00000272902.5	-	6	852	c.817G>A	c.(817-819)Gat>Aat	p.D273N	SUMF1_ENST00000534863.1_Missense_Mutation_p.D273N|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000383843.5_Missense_Mutation_p.D248N|SUMF1_ENST00000405420.2_Missense_Mutation_p.D273N	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	273						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		TGGAAGCCATCCTCACCAGTG	0.552													7	403	---	---	---	---	0	0
MSL2	55167	broad.mit.edu	37	3	135870947	135870947	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:135870947T>A	ENST00000309993.2	-	2	1508	c.776A>T	c.(775-777)gAt>gTt	p.D259V	MSL2_ENST00000434835.2_Missense_Mutation_p.D185V	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	259					histone H4-K16 acetylation	MSL complex	zinc ion binding	p.D259V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						AGGTTTTATATCTTCACTGAA	0.448													57	156	---	---	---	---	0	0
SLC9A9	285195	broad.mit.edu	37	3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	493					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGGTCCACGCCAACTCTG	0.438													6	573	---	---	---	---	0	0
POLN	353497	broad.mit.edu	37	4	2097644	2097644	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:2097644C>G	ENST00000511885.2	-	20	2352	c.1999G>C	c.(1999-2001)Gaa>Caa	p.E667Q	POLN_ENST00000382865.1_Missense_Mutation_p.E667Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	667					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GTCACCTGTTCCACGGGCACA	0.602								DNA polymerases (catalytic subunits)					3	119	---	---	---	---	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6377648	6377648	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:6377648G>C	ENST00000335585.5	-	4	368	c.345C>G	c.(343-345)atC>atG	p.I115M	PPP2R2C_ENST00000382599.4_Missense_Mutation_p.I115M|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I98M|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I108M	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	115					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.I115M(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCATAATTTGATAGTTTTAT	0.413													10	234	---	---	---	---	0	0
MFSD8	256471	broad.mit.edu	37	4	128843022	128843022	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:128843022C>G	ENST00000296468.3	-	11	1222	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H	MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320H|MFSD8_ENST00000515130.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.Q365H(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TACCTTCCCACTGTATTTTGG	0.373													30	60	---	---	---	---	0	0
CHD1	1105	broad.mit.edu	37	5	98192174	98192174	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:98192174C>T	ENST00000284049.3	-	35	5192	c.5043G>A	c.(5041-5043)caG>caA	p.Q1681Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1681					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.Q1681Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AAGGAGATCTCTGATCTAGTG	0.443													53	21	---	---	---	---	0	0
CHD1	1105	broad.mit.edu	37	5	98192340	98192340	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:98192340C>G	ENST00000284049.3	-	35	5026	c.4877G>C	c.(4876-4878)aGa>aCa	p.R1626T		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1626					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.R1626T(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGAATGAGATCTATCTTTTAA	0.383													71	18	---	---	---	---	0	0
CCNG1	900	broad.mit.edu	37	5	162868107	162868107	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:162868107T>A	ENST00000340828.2	+	3	512	c.288T>A	c.(286-288)tgT>tgA	p.C96*	CCNG1_ENST00000393929.1_Nonsense_Mutation_p.C96*|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000511683.2_5'UTR|AC112205.1_ENST00000599797.1_Intron	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	96					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		p.C96*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		ACCTTGGGTGTGTTGGACTGA	0.368													60	82	---	---	---	---	0	0
CTGF	1490	broad.mit.edu	37	6	132271204	132271204	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr6:132271204C>A	ENST00000367976.3	-	4	838	c.638G>T	c.(637-639)tGt>tTt	p.C213F		NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	213	TSP type-1.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	p.C213F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCCCATCCCACAGGTCTTGGA	0.587											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	77	---	---	---	---	0	0
ABCB5	340273	broad.mit.edu	37	7	20778650	20778650	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:20778650C>T	ENST00000404938.2	+	24	3564	c.2912C>T	c.(2911-2913)aCg>aTg	p.T971M	ABCB5_ENST00000258738.6_Missense_Mutation_p.T526M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	526					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.T526M(1)|p.T971M(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATCGGAGAAACGCTCGTTTTG	0.418													27	111	---	---	---	---	0	0
ZNF713	349075	broad.mit.edu	37	7	56007656	56007656	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:56007656G>T	ENST00000429591.2	+	4	1288	c.1250G>T	c.(1249-1251)tGt>tTt	p.C417F	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C417F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAATATAAATGTGAGCAAACT	0.388													105	86	---	---	---	---	0	0
TRRAP	8295	broad.mit.edu	37	7	98508784	98508784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:98508784G>T	ENST00000359863.4	+	17	2106	c.1897G>T	c.(1897-1899)Gag>Tag	p.E633*	TRRAP_ENST00000355540.3_Nonsense_Mutation_p.E633*|TRRAP_ENST00000446306.3_Nonsense_Mutation_p.E632*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	633					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAGGTATTGGAGCATTTCGC	0.433													4	177	---	---	---	---	0	0
TRPA1	8989	broad.mit.edu	37	8	72963064	72963064	+	Silent	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr8:72963064G>A	ENST00000262209.4	-	15	2061	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	618						integral to plasma membrane		p.G618G(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GACATTTATTGCCTGGAGAAT	0.338													56	108	---	---	---	---	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428780	128428780	+	Silent	SNP	A	A	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr8:128428780A>C	ENST00000465342.2	+	2	1826	c.669A>C	c.(667-669)gcA>gcC	p.A223A	POU5F1B_ENST00000391675.1_Silent_p.A223A|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	223						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A223A(2)		lung(1)|prostate(1)|urinary_tract(1)	3						TATGCAAAGCAGAAACCCTCA	0.507													17	18	---	---	---	---	0	0
SARDH	1757	broad.mit.edu	37	9	136573417	136573417	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr9:136573417G>T	ENST00000371872.4	-	11	1719	c.1462C>A	c.(1462-1464)Ctg>Atg	p.L488M	SARDH_ENST00000422262.2_Missense_Mutation_p.L320M|SARDH_ENST00000439388.1_Missense_Mutation_p.L488M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	488					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.L488M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCTCGTGCAGCGGGTCTCTC	0.632													12	76	---	---	---	---	0	0
HIPK3	10114	broad.mit.edu	37	11	33373268	33373268	+	Silent	SNP	T	T	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr11:33373268T>C	ENST00000303296.4	+	15	3227	c.2922T>C	c.(2920-2922)caT>caC	p.H974H	HIPK3_ENST00000379016.3_Silent_p.H953H|HIPK3_ENST00000525975.1_Silent_p.H953H|HIPK3_ENST00000456517.1_Silent_p.H953H	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	974	Required for localization to nuclear speckles (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.H974H(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGGACACTCATGAAAACACAG	0.483													40	139	---	---	---	---	0	0
SP1	0	broad.mit.edu	37	12	53804756	53804756	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:53804756G>A	ENST00000426431.2	+	6	2129	c.2069G>A	c.(2068-2070)aGg>aAg	p.R690K	SP1_ENST00000327443.4_Missense_Mutation_p.R697K	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	697	VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.R697K(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CGCTTCATGAGGAGTGACCAC	0.493													143	195	---	---	---	---	0	0
LRIG3	121227	broad.mit.edu	37	12	59283855	59283855	+	Silent	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:59283855G>A	ENST00000320743.3	-	5	868	c.582C>T	c.(580-582)ctC>ctT	p.L194L	LRIG3_ENST00000379141.4_Silent_p.L134L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	194						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTAACACAAGGAGTGTGTTGG	0.423			T	ROS1	NSCLC								6	412	---	---	---	---	0	0
OTOGL	283310	broad.mit.edu	37	12	80658832	80658832	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:80658832G>T	ENST00000458043.2	+	19	2045	c.2039G>T	c.(2038-2040)tGc>tTc	p.C680F	OTOGL_ENST00000547103.1_Missense_Mutation_p.C680F	NM_173591.3	NP_775862.3			otogelin-like									p.C680F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGCTCCTTGCCACATCTAT	0.493													172	270	---	---	---	---	0	0
TPPP2	122664	broad.mit.edu	37	14	21498804	21498804	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr14:21498804G>A	ENST00000321760.6	+	2	212	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	TPPP2_ENST00000460647.2_Missense_Mutation_p.G22S|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.G22S	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	22						cytoplasm		p.G22S(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ATCAAGCAGTGGCACTGAAAT	0.517													28	36	---	---	---	---	0	0
SPG11	80208	broad.mit.edu	37	15	44944401	44944401	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:44944401C>A	ENST00000261866.7	-	5	949	c.933G>T	c.(931-933)aaG>aaT	p.K311N	SPG11_ENST00000427534.2_Missense_Mutation_p.K311N|SPG11_ENST00000559193.1_Missense_Mutation_p.K311N|SPG11_ENST00000535302.2_Missense_Mutation_p.K311N|SPG11_ENST00000558319.1_Missense_Mutation_p.K311N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	311					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CATCTACGCCCTTAGGTCCTT	0.373													4	181	---	---	---	---	0	0
DPP8	54878	broad.mit.edu	37	15	65780073	65780073	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:65780073T>C	ENST00000341861.5	-	7	2538	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	DPP8_ENST00000321118.7_Missense_Mutation_p.M320V|DPP8_ENST00000559233.1_Missense_Mutation_p.M320V|DPP8_ENST00000358939.4_Missense_Mutation_p.M304V|DPP8_ENST00000321147.6_Missense_Mutation_p.M320V|DPP8_ENST00000339244.5_Missense_Mutation_p.M320V|DPP8_ENST00000300141.6_Missense_Mutation_p.M304V	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	320					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	p.M304V(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTCCAACATAGGGGATGTA	0.338													20	247	---	---	---	---	0	0
MYO9A	4649	broad.mit.edu	37	15	72193592	72193592	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:72193592G>T	ENST00000356056.5	-	23	3562	c.3090C>A	c.(3088-3090)ttC>ttA	p.F1030L	MYO9A_ENST00000566885.1_Missense_Mutation_p.F650L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1011L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1030	IQ 1.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.F1030L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCAAGACCCTGAACCATCGCT	0.453													42	75	---	---	---	---	0	0
FES	2242	broad.mit.edu	37	15	91428783	91428783	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:91428783C>A	ENST00000328850.3	+	3	497	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	FES_ENST00000394300.3_Intron|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Intron|FES_ENST00000444422.2_Missense_Mutation_p.Q119K|FES_ENST00000414248.2_Intron	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	119	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.Q119K(2)		lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTACAGCGAGCAGTGGCAGCA	0.597													12	17	---	---	---	---	0	0
FAM174B	400451	broad.mit.edu	37	15	93162648	93162648	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:93162648A>G	ENST00000555748.1	-	3	447	c.94T>C	c.(94-96)Tgg>Cgg	p.W32R	FAM174B_ENST00000555064.1_Missense_Mutation_p.W32R|FAM174B_ENST00000555696.1_Missense_Mutation_p.W32R|FAM174B_ENST00000327355.5_3'UTR|RP11-386M24.9_ENST00000607766.1_RNA|FAM174B_ENST00000553393.1_Intron			Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	0						integral to membrane				endometrium(2)|lung(1)	3						GCAGCTGACCAACTTTCCACA	0.527													19	28	---	---	---	---	0	0
ELMO3	79767	broad.mit.edu	37	16	67234423	67234423	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:67234423G>A	ENST00000393997.2	+	6	699	c.642G>A	c.(640-642)tgG>tgA	p.W214*	ELMO3_ENST00000360833.1_Nonsense_Mutation_p.W197*|ELMO3_ENST00000477898.1_Nonsense_Mutation_p.W48*|ELMO3_ENST00000571638.1_3'UTR	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	161					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	p.W214*(1)		cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TGGTGTCCTGGGAGACTCTGA	0.652													3	68	---	---	---	---	0	0
SLC9A5	6553	broad.mit.edu	37	16	67305047	67305047	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:67305047C>T	ENST00000299798.11	+	16	2690	c.2625C>T	c.(2623-2625)acC>acT	p.T875T		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	875					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.T875T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGACCACACCCATCTCAGCC	0.662													4	31	---	---	---	---	0	0
DHRS13	147015	broad.mit.edu	37	17	27229944	27229944	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:27229944C>T	ENST00000378895.4	-	1	145	c.19G>A	c.(19-21)Ggc>Agc	p.G7S	DHRS13_ENST00000426464.2_Missense_Mutation_p.G7S|DHRS13_ENST00000394901.3_5'UTR	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	7						extracellular region	binding|oxidoreductase activity	p.G7S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AACCCCGCGCCCAGCAGCAGC	0.756													5	12	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			139	222	---	---	---	---	0	0
SRSF1	6426	broad.mit.edu	37	17	56083187	56083187	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:56083187T>C	ENST00000582730.2	-	3	650	c.527A>G	c.(526-528)gAt>gGt	p.D176G	SRSF1_ENST00000258962.4_Missense_Mutation_p.D176G|SRSF1_ENST00000584773.1_Missense_Mutation_p.D176G|SRSF1_ENST00000585096.1_Intron	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	176	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	p.D176G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGTGTTATCCAGTTTTCG	0.403													85	117	---	---	---	---	0	0
OR10H3	26532	broad.mit.edu	37	19	15852413	15852413	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:15852413G>A	ENST00000305892.1	+	1	211	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E71K(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCCATCTCTGAGATTCTGTT	0.498													21	764	---	---	---	---	0	0
FCGBP	8857	broad.mit.edu	37	19	40420067	40420067	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:40420067C>T	ENST00000221347.6	-	6	2934	c.2927G>A	c.(2926-2928)gGc>gAc	p.G976D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	976	VWFD 2.					extracellular region	protein binding	p.G976D(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACAGTCAGGCCAAAGTCCGT	0.592													37	60	---	---	---	---	0	0
ERCC2	2068	broad.mit.edu	37	19	45858059	45858059	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:45858059G>A	ENST00000391945.4	-	17	1671	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S	ERCC2_ENST00000391944.3_Missense_Mutation_p.P454S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	532	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.P532S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATGCCATCAGGGACCACAGCG	0.627			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				67	145	---	---	---	---	0	0
CRNKL1	51340	broad.mit.edu	37	20	20028414	20028414	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr20:20028414T>C	ENST00000377340.2	-	6	1131	c.1100A>G	c.(1099-1101)gAg>gGg	p.E367G	CRNKL1_ENST00000377327.4_Missense_Mutation_p.E355G|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E206G	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	367					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GATATATCGCTCATAAATGGT	0.517													3	103	---	---	---	---	0	0
CACNG2	10369	broad.mit.edu	37	22	36960764	36960764	+	Silent	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr22:36960764G>A	ENST00000300105.6	-	4	1587	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	202					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.I202I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTGCCGGTCGATAAACATGT	0.622													142	194	---	---	---	---	0	0
KLHL13	90293	broad.mit.edu	37	X	117043609	117043609	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chrX:117043609G>T	ENST00000371876.1	-	4	3289	c.868C>A	c.(868-870)Cac>Aac	p.H290N	KLHL13_ENST00000371878.1_Missense_Mutation_p.H290N|KLHL13_ENST00000541812.1_Missense_Mutation_p.H325N|KLHL13_ENST00000469946.1_Missense_Mutation_p.H290N|KLHL13_ENST00000545703.1_Missense_Mutation_p.H299N|KLHL13_ENST00000540167.1_Missense_Mutation_p.H325N|KLHL13_ENST00000262820.3_Missense_Mutation_p.H341N|KLHL13_ENST00000371882.1_Missense_Mutation_p.H290N|KLHL13_ENST00000539496.1_Missense_Mutation_p.H344N			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	341	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.H341N(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTAACCAAGTGAGTGGTGTCA	0.473													5	150	---	---	---	---	0	0
NLRC4	58484	broad.mit.edu	37	2	32475161	32475161	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:32475161A>T	ENST00000404025.2	-	5	2260	c.1772T>A	c.(1771-1773)aTc>aAc	p.I591N	NLRC4_ENST00000402280.1_Missense_Mutation_p.I591N|NLRC4_ENST00000360906.5_Missense_Mutation_p.I591N|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	591					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.I591N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTAATCGGGGATGTTCCCTGA	0.408													6	245	---	---	---	---	0	0
THNSL2	55258	broad.mit.edu	37	2	88478453	88478453	+	Silent	SNP	G	G	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:88478453G>A	ENST00000324166.5	+	4	2414	c.723G>A	c.(721-723)caG>caA	p.Q241Q	THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_Silent_p.Q241Q|THNSL2_ENST00000449349.1_Silent_p.Q209Q|THNSL2_ENST00000358591.2_Silent_p.Q241Q|THNSL2_ENST00000402102.1_Silent_p.Q241Q|THNSL2_ENST00000377254.3_Silent_p.Q241Q	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	241					threonine biosynthetic process		threonine synthase activity	p.Q241Q(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CTTACTTCCAGTGTACGCCAT	0.552													10	447	---	---	---	---	0	0
CP	1356	broad.mit.edu	37	3	148905905	148905905	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr3:148905905A>C	ENST00000264613.6	-	10	2060	c.1798T>G	c.(1798-1800)Ttt>Gtt	p.F600V	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	600	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.F600V(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCAGTTGTAAACATTCTAATA	0.343													6	261	---	---	---	---	0	0
ADCY1	107	broad.mit.edu	37	7	45744119	45744119	+	Silent	SNP	C	C	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:45744119C>A	ENST00000297323.7	+	17	2743	c.2721C>A	c.(2719-2721)ctC>ctA	p.L907L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	907					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.L907L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AAACAAAGCTCATGGAAAAAG	0.498													6	134	---	---	---	---	0	0
SPATA31C1	0	broad.mit.edu	37	9	90535290	90535290	+	RNA	SNP	T	T	C	rs55701842	by1000genomes	TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr9:90535290T>C	ENST00000602681.1	+	0	1194																											CTATGGAAGATGCTGCTCCCA	0.592													5	302	---	---	---	---	0	0
CPSF2	53981	broad.mit.edu	37	14	92608697	92608697	+	Splice_Site	SNP	T	T	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr14:92608697T>C	ENST00000298875.4	+	8	1134		c.e8+2			NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa						histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	p.?(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAGTCCCAGGTTTGTTCTCAT	0.383													5	286	---	---	---	---	0	0
CDAN1	146059	broad.mit.edu	37	15	43022880	43022880	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr15:43022880A>C	ENST00000356231.3	-	14	2113	c.2090T>G	c.(2089-2091)gTg>gGg	p.V697G		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	697						integral to membrane	protein binding	p.V697G(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GAGAAACTCCACCAGCCAGGG	0.637													6	41	---	---	---	---	0	0
CSPG4	1464	broad.mit.edu	37	15	75980335	75980335	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr15:75980335C>A	ENST00000308508.5	-	3	3163	c.3071G>T	c.(3070-3072)aGc>aTc	p.S1024I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1024	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.S1024I(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAGATCCGGCTGATGGTCTG	0.657													4	118	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9075833	9075833	+	Silent	SNP	C	C	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr19:9075833C>T	ENST00000397910.4	-	3	11816	c.11613G>A	c.(11611-11613)gaG>gaA	p.E3871E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3872	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E3871E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTTTCTTTCTCATTCCAGG	0.448													8	100	---	---	---	---	0	0
PBX4	80714	broad.mit.edu	37	19	19675795	19675795	+	Missense_Mutation	SNP	G	G	A	rs139542458		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr19:19675795G>A	ENST00000251203.9	-	6	1158	c.872C>T	c.(871-873)aCg>aTg	p.T291M		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4								sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T291M(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CCCAACTTCCGTGGTATCCAC	0.527													9	377	---	---	---	---	0	0
NSFL1C	55968	broad.mit.edu	37	20	1433675	1433675	+	Splice_Site	SNP	C	C	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr20:1433675C>T	ENST00000216879.4	-	6	1515		c.e6+1		NSFL1C_ENST00000476071.1_Splice_Site|NSFL1C_ENST00000381658.4_Splice_Site|NSFL1C_ENST00000353088.2_Splice_Site|NSFL1C_ENST00000461211.1_Splice_Site|NSFL1C_ENST00000350991.4_Splice_Site	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)							chromosome|Golgi stack|nucleus	lipid binding|protein binding	p.?(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TTTTCACTCACCCTCTGCGGA	0.453													7	354	---	---	---	---	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209652	3209652	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr20:3209652A>C	ENST00000380059.3	-	17	2254	c.2153T>G	c.(2152-2154)gTg>gGg	p.V718G	SLC4A11_ENST00000380056.3_Missense_Mutation_p.V691G|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Missense_Mutation_p.V675G	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	691	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	p.V718G(1)|p.V691G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGTGCCCTTCACCAGCCTGCA	0.667													8	25	---	---	---	---	0	0
XRCC6	2547	broad.mit.edu	37	22	42057337	42057337	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr22:42057337C>T	ENST00000359308.4	+	11	2180	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	XRCC6_ENST00000428575.2_Missense_Mutation_p.P376S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P459S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P509S|XRCC6_ENST00000402580.3_Missense_Mutation_p.P468S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P509S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	509					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	p.P509S(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTCTAGTGCCCAAGGTTGA	0.473								Non-homologous end-joining					7	250	---	---	---	---	0	0
XIST	0	broad.mit.edu	37	X	73066367	73066367	+	RNA	SNP	T	T	C			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chrX:73066367T>C	ENST00000429829.1	-	0	6221					NR_001564.2																						AGTAGGACCTTATTCACATGG	0.448													6	127	---	---	---	---	0	0
PLCH2	9651	broad.mit.edu	37	1	2415902	2415902	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:2415902G>A	ENST00000449969.1	+	5	741	c.580G>A	c.(580-582)Gac>Aac	p.D194N	PLCH2_ENST00000378488.3_Missense_Mutation_p.D221N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D221N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.D221N			O75038	PLCH2_HUMAN	phospholipase C, eta 2	221	EF-hand 1.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D221N(1)|p.D68N(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGACACGGATGACCACCAAGG	0.597													20	32	---	---	---	---	0	0
AKNAD1	254268	broad.mit.edu	37	1	109369914	109369914	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:109369914C>T	ENST00000370001.3	-	11	2117	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M	AKNAD1_ENST00000369995.3_Missense_Mutation_p.V617M|AKNAD1_ENST00000369994.1_Missense_Mutation_p.V587M|AKNAD1_ENST00000357393.4_Missense_Mutation_p.V324M	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	617								p.V617M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTTCTCCACGTTTTGCTTC	0.383													21	230	---	---	---	---	0	0
FCGR1A	2209	broad.mit.edu	37	1	149760144	149760144	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:149760144C>T	ENST00000369168.4	+	4	584	c.530C>T	c.(529-531)aCa>aTa	p.T177I	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	177	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATCGCTACACATCAGCAGGA	0.413													5	198	---	---	---	---	0	0
TMEM214	54867	broad.mit.edu	37	2	27258872	27258872	+	Silent	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr2:27258872G>A	ENST00000238788.9	+	5	734	c.672G>A	c.(670-672)caG>caA	p.Q224Q	TMEM214_ENST00000404032.3_Silent_p.Q179Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	224						integral to membrane	protein binding	p.Q224Q(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTGTATCCAGGCCATCCTGC	0.517													18	44	---	---	---	---	0	0
IGKV1D-42	0	broad.mit.edu	37	2	90229249	90229249	+	RNA	SNP	C	C	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr2:90229249C>A	ENST00000390278.2	+	0	89																											TCAGATTTGACATCCAGATGA	0.438													39	16	---	---	---	---	0	0
IRAK2	3656	broad.mit.edu	37	3	10251301	10251301	+	Silent	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:10251301G>A	ENST00000256458.4	+	4	543	c.453G>A	c.(451-453)ccG>ccA	p.P151P		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	151					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	p.P151P(2)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CCCACCAGCCGGCCTTTCTCC	0.597													7	275	---	---	---	---	0	0
DMXL1	1657	broad.mit.edu	37	5	118469852	118469852	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr5:118469852C>G	ENST00000311085.8	+	12	2313	c.2233C>G	c.(2233-2235)Ctt>Gtt	p.L745V	DMXL1_ENST00000539542.1_Missense_Mutation_p.L745V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	745								p.L745V(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCTGCCCACTCTTATACCCAG	0.383													8	242	---	---	---	---	0	0
HSPA9	3313	broad.mit.edu	37	5	137893676	137893676	+	Splice_Site	SNP	C	C	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr5:137893676C>A	ENST00000297185.3	-	13	1641		c.e13-1		HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)						anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAATTCCAATCTAAAATAAAT	0.388													4	110	---	---	---	---	0	0
KIFC2	90990	broad.mit.edu	37	8	145693004	145693004	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:145693004C>G	ENST00000301332.2	+	5	983	c.606C>G	c.(604-606)atC>atG	p.I202M	KIFC2_ENST00000301331.5_5'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	202	Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.I202M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCAGCTCATCCTGGGACAGG	0.647											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	61	---	---	---	---	0	0
KIF5B	3799	broad.mit.edu	37	10	32337438	32337438	+	Silent	SNP	T	T	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr10:32337438T>C	ENST00000302418.4	-	2	625	c.168A>G	c.(166-168)acA>acG	p.T56T		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	56	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	p.T56T(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTCTTGAGATGTGCTTGACT	0.338			T	"""RET, ALK"""	NSCLC								5	134	---	---	---	---	0	0
NAV2	89797	broad.mit.edu	37	11	20119232	20119232	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:20119232A>G	ENST00000396085.1	+	32	6492	c.6131A>G	c.(6130-6132)gAg>gGg	p.E2044G	NAV2_ENST00000527559.2_Missense_Mutation_p.E2029G|NAV2_ENST00000360655.4_Missense_Mutation_p.E1977G|NAV2_ENST00000540292.1_Missense_Mutation_p.E2031G|NAV2_ENST00000396087.3_Missense_Mutation_p.E2100G|NAV2_ENST00000311043.8_Missense_Mutation_p.E1105G|NAV2_ENST00000533917.1_Missense_Mutation_p.E1105G|NAV2_ENST00000349880.4_Missense_Mutation_p.E2041G	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2100						nucleus	ATP binding|helicase activity	p.E2100G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAACACCGGAGCTGCTTCCT	0.493													8	135	---	---	---	---	0	0
GNB3	2784	broad.mit.edu	37	12	6950751	6950751	+	Splice_Site	SNP	A	A	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr12:6950751A>G	ENST00000229264.3	+	4	464	c.59A>G	c.(58-60)gAt>gGt	p.D20G	GNB3_ENST00000435982.2_Splice_Site_p.D20G	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	20					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	p.D20G(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TCCCTGCAGGATGCCAGGAAA	0.667													12	28	---	---	---	---	0	0
PCK2	5106	broad.mit.edu	37	14	24572967	24572967	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:24572967A>G	ENST00000545054.2	+	10	2233	c.1315A>G	c.(1315-1317)Att>Gtt	p.I439V	NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Missense_Mutation_p.I439V|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.I573V|PCK2_ENST00000558096.1_Missense_Mutation_p.I407V			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	573					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.I573V(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		AGAGACACCCATTGGGCTGGT	0.607													41	65	---	---	---	---	0	0
MLH3	27030	broad.mit.edu	37	14	75515946	75515946	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:75515946G>C	ENST00000355774.2	-	2	628	c.413C>G	c.(412-414)aCt>aGt	p.T138S	MLH3_ENST00000238662.7_Missense_Mutation_p.T138S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.T138S|MLH3_ENST00000556257.1_Missense_Mutation_p.T138S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	138					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.T138S(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GCTTGCTCTAGTCACATCAGC	0.428								Mismatch excision repair (MMR)					10	186	---	---	---	---	0	0
ASB2	51676	broad.mit.edu	37	14	94420665	94420665	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:94420665C>T	ENST00000555019.1	-	4	906	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.R111Q	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	111					intracellular signal transduction			p.R111Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCTCACCTCGCTGCAGGAC	0.612													4	76	---	---	---	---	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58306075	58306075	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr15:58306075C>G	ENST00000249750.4	-	3	1111	c.344G>C	c.(343-345)cGg>cCg	p.R115P	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R94P|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R115P|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R19P|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R86P	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	115					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.R115P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TGCCCTGTCCCGTTCCACCAA	0.458													19	532	---	---	---	---	0	0
IRF8	3394	broad.mit.edu	37	16	85936702	85936702	+	Silent	SNP	T	T	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr16:85936702T>C	ENST00000268638.5	+	2	503	c.81T>C	c.(79-81)atT>atC	p.I27I	IRF8_ENST00000563180.1_Silent_p.I27I	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	27					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.I27I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGGACTGATTTGGGAGAATG	0.478													3	74	---	---	---	---	0	0
PTPRM	5797	broad.mit.edu	37	18	8113637	8113637	+	Silent	SNP	C	C	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr18:8113637C>A	ENST00000332175.8	+	12	3047	c.2010C>A	c.(2008-2010)ctC>ctA	p.L670L	PTPRM_ENST00000400053.4_Silent_p.L608L|PTPRM_ENST00000444013.1_Silent_p.L457L|PTPRM_ENST00000400060.4_Silent_p.L670L|PTPRM_ENST00000580170.1_Silent_p.L670L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	670	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.L670L(2)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGACAGCCTCCAAGCTGCGC	0.423													93	114	---	---	---	---	0	0
CEACAM6	4680	broad.mit.edu	37	19	42259586	42259586	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:42259586C>A	ENST00000199764.6	+	1	258	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	14					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.P14T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ATTGCATGTCCCCTGGAAGGA	0.607													5	97	---	---	---	---	0	0
MAPRE1	22919	broad.mit.edu	37	20	31427559	31427559	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr20:31427559C>G	ENST00000375571.5	+	5	633	c.494C>G	c.(493-495)tCa>tGa	p.S165*		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	165	Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	p.S165*(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AGGCCCATCTCAACACAGAGA	0.527													12	457	---	---	---	---	0	0
HDAC8	55869	broad.mit.edu	37	X	71787745	71787745	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chrX:71787745G>C	ENST00000439122.2	-	4	717	c.431C>G	c.(430-432)gCa>gGa	p.A144G	HDAC8_ENST00000373571.1_Missense_Mutation_p.A144G|HDAC8_ENST00000373573.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373556.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.A144G|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373554.1_Missense_Mutation_p.A144G|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373560.2_Missense_Mutation_p.A144G|HDAC8_ENST00000373589.4_Intron	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	144	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	p.A144G(1)		breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTACTTCTTTGCATGATGCCA	0.418													11	122	---	---	---	---	0	0
MT-RNR2	0	broad.mit.edu	37	M	2916	2916	+	RNA	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chrM:2916G>A	ENST00000387347.2	+	0	1246					NR_039705.1																						AACTTGACCAACGGAACAAGT	0.478													5	211	---	---	---	---	0	0
MT-ND4	4538	broad.mit.edu	37	M	11991	11991	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chrM:11991T>C	ENST00000361381.2	+	1	1232	c.1232T>C	c.(1231-1233)tTt>tCt	p.F411S						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CCTCTACATATTTACCACAAC	0.438													194	38	---	---	---	---	0	0
LCE5A	254910	broad.mit.edu	37	1	152484310	152484310	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:152484310C>G	ENST00000334269.2	+	2	476	c.300C>G	c.(298-300)agC>agG	p.S100R		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	100	Cys-rich.				keratinization			p.S100R(1)		lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCTCCAGCTGCTGCCACA	0.682													4	9	---	---	---	---	0	0
GALNT2	2590	broad.mit.edu	37	1	230338965	230338965	+	Silent	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:230338965C>T	ENST00000366672.4	+	3	375	c.303C>T	c.(301-303)cgC>cgT	p.R101R	GALNT2_ENST00000541865.1_Silent_p.R11R|GALNT2_ENST00000543760.1_Silent_p.R63R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	101					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R101R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTTACGCCCGCAACAAGTTCA	0.552													6	224	---	---	---	---	0	0
CEBPZ	10153	broad.mit.edu	37	2	37441066	37441066	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:37441066C>T	ENST00000234170.5	-	10	2631	c.2486G>A	c.(2485-2487)cGg>cAg	p.R829Q	AC007390.5_ENST00000438935.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	829					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.R829Q(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATCTGCATCCCGTTTTTGTTT	0.269													9	42	---	---	---	---	0	0
RAPH1	65059	broad.mit.edu	37	2	204304794	204304794	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:204304794A>G	ENST00000319170.5	-	14	3418	c.3119T>C	c.(3118-3120)gTt>gCt	p.V1040A	RAPH1_ENST00000374493.3_Missense_Mutation_p.V1092A|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1040					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		p.V1040A(2)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTTGGAGAACTCCAGGAAG	0.537													53	100	---	---	---	---	0	0
COL4A3	1285	broad.mit.edu	37	2	228155518	228155518	+	Silent	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:228155518C>A	ENST00000396578.3	+	37	3288	c.3126C>A	c.(3124-3126)ggC>ggA	p.G1042G	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1042	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G1042G(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGACCAGGCCTCCCAGGTA	0.488													3	61	---	---	---	---	0	0
PID1	55022	broad.mit.edu	37	2	229890759	229890759	+	Silent	SNP	T	T	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:229890759T>A	ENST00000392054.3	-	4	675	c.336A>T	c.(334-336)ccA>ccT	p.P112P	PID1_ENST00000409462.1_Silent_p.P32P|PID1_ENST00000354069.6_Silent_p.P114P|PID1_ENST00000392055.3_Silent_p.P81P|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	114	PID.					cytoplasm		p.P112P(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GCTCAATGACTGGCTTTTCTG	0.532													10	88	---	---	---	---	0	0
KLHL18	23276	broad.mit.edu	37	3	47376266	47376266	+	Silent	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:47376266C>A	ENST00000232766.5	+	6	875	c.855C>A	c.(853-855)tcC>tcA	p.S285S	KLHL18_ENST00000455924.2_Silent_p.S173S	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	285								p.S285S(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GCTGCACATCCATCGCTGGAC	0.582													3	54	---	---	---	---	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568295	99568295	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:99568295T>G	ENST00000331335.5	-	5	2695	c.2225A>C	c.(2224-2226)gAt>gCt	p.D742A	FILIP1L_ENST00000383694.2_Missense_Mutation_p.D502A|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.D502A|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.D318A|FILIP1L_ENST00000354552.3_Missense_Mutation_p.D742A	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	742						cytoplasm|membrane|myosin complex|nucleus		p.D742A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GACTGAGTGATCTCCCTGGAG	0.408													10	393	---	---	---	---	0	0
BCL6	604	broad.mit.edu	37	3	187447645	187447645	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:187447645C>T	ENST00000406870.2	-	5	914	c.548G>A	c.(547-549)aGc>aAc	p.S183N	BCL6_ENST00000450123.2_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	183					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S183N(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACTGTACAGGCTGGGGGCAAA	0.602			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								30	38	---	---	---	---	0	0
PLG	5340	broad.mit.edu	37	6	161139389	161139389	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr6:161139389G>A	ENST00000308192.9	+	8	914	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	284	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.R284H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAAACTATCGCGGGAATGTG	0.493													40	170	---	---	---	---	0	0
INHBA	3624	broad.mit.edu	37	7	41739653	41739653	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:41739653A>T	ENST00000242208.4	-	2	566	c.320T>A	c.(319-321)aTt>aAt	p.I107N	INHBA_ENST00000442711.1_Missense_Mutation_p.I107N|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	107					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.I107N(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTCCTTCCAATGTCATCCTC	0.562										TSP Lung(11;0.080)			19	758	---	---	---	---	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99110202	99110202	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:99110202C>G	ENST00000394170.2	+	3	792	c.541C>G	c.(541-543)Ctg>Gtg	p.L181V	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L181V|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L181V	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	181					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L181V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCCTCGTCTCCTGGAGGAAAA	0.587													20	35	---	---	---	---	0	0
SSPO	23145	broad.mit.edu	37	7	149526028	149526028	+	RNA	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:149526028G>A	ENST00000378016.2	+	0	15085							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCAGGGCGAGGAGATGGT	0.667													8	6	---	---	---	---	0	0
FANCG	2189	broad.mit.edu	37	9	35076446	35076446	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:35076446C>A	ENST00000378643.3	-	8	1550	c.1059G>T	c.(1057-1059)agG>agT	p.R353S	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	353					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.R353S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTGTAGGCACCTGCTTGCTA	0.532			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					9	105	---	---	---	---	0	0
SMC2	10592	broad.mit.edu	37	9	106889711	106889711	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:106889711G>A	ENST00000286398.7	+	20	3028	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	SMC2_ENST00000374793.3_Missense_Mutation_p.D914N|SMC2_ENST00000374787.3_Missense_Mutation_p.D914N|SMC2_ENST00000303219.8_Missense_Mutation_p.D914N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	914					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	p.D914N(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAGGAATTAGACCACAACAT	0.363													53	82	---	---	---	---	0	0
UBAC1	10422	broad.mit.edu	37	9	138837764	138837764	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:138837764G>C	ENST00000371756.3	-	6	841	c.624C>G	c.(622-624)aaC>aaG	p.N208K		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	208	UBA 1.					Golgi apparatus|plasma membrane	protein binding	p.N208K(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TGGTGGCTCTGTTCTCCGGAA	0.662													14	46	---	---	---	---	0	0
PTEN	5728	broad.mit.edu	37	10	89690802	89690802	+	Splice_Site	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:89690802G>A	ENST00000371953.3	+	4	1566		c.e4-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(9)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTCTTTTAGTTGTGCTGAA	0.303		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			32	23	---	---	---	---	0	0
CRTAC1	55118	broad.mit.edu	37	10	99642555	99642555	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:99642555C>A	ENST00000370597.3	-	13	2018	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C	CRTAC1_ENST00000298819.4_Intron|CRTAC1_ENST00000468549.1_5'UTR|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G555C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	555						proteinaceous extracellular matrix	calcium ion binding	p.G555C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ATGCAATGGCCATTTTCCTGC	0.577													17	33	---	---	---	---	0	0
ENTPD7	57089	broad.mit.edu	37	10	101455823	101455823	+	Silent	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:101455823C>T	ENST00000370489.4	+	9	1132	c.954C>T	c.(952-954)aaC>aaT	p.N318N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	318						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	p.N318N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TCGGAGGCAACTTTGCCCGGC	0.453													11	169	---	---	---	---	0	0
NAV2	89797	broad.mit.edu	37	11	20101630	20101630	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:20101630G>T	ENST00000396085.1	+	25	5561	c.5200G>T	c.(5200-5202)Gca>Tca	p.A1734S	NAV2_ENST00000540292.1_Missense_Mutation_p.A1721S|NAV2_ENST00000360655.4_Missense_Mutation_p.A1670S|NAV2_ENST00000527559.2_Missense_Mutation_p.A1719S|NAV2_ENST00000349880.4_Missense_Mutation_p.A1734S|NAV2_ENST00000396087.3_Missense_Mutation_p.A1790S|NAV2_ENST00000311043.8_Missense_Mutation_p.A798S|NAV2_ENST00000533917.1_Missense_Mutation_p.A798S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1790						nucleus	ATP binding|helicase activity	p.A1790S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCCCAGTCTGCAGACCTCCG	0.562													13	39	---	---	---	---	0	0
TCN1	6947	broad.mit.edu	37	11	59633903	59633903	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:59633903A>G	ENST00000257264.3	-	1	145	c.41T>C	c.(40-42)cTg>cCg	p.L14P	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	14					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	p.L14P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAGAAAACAGTAAGAGCCC	0.413													49	109	---	---	---	---	0	0
EML3	256364	broad.mit.edu	37	11	62378665	62378665	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:62378665G>A	ENST00000394773.2	-	3	653	c.346C>T	c.(346-348)Cct>Tct	p.P116S	EML3_ENST00000278845.4_Missense_Mutation_p.P117S|EML3_ENST00000529309.1_Missense_Mutation_p.P116S|EML3_ENST00000494176.2_Missense_Mutation_p.P88S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	116						cytoplasm|microtubule	protein binding	p.P116S(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTCCCGCTAGGCTCTTCGCTG	0.697													4	30	---	---	---	---	0	0
MAML2	84441	broad.mit.edu	37	11	95712225	95712225	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:95712225G>A	ENST00000524717.1	-	5	4642	c.3358C>T	c.(3358-3360)Cct>Tct	p.P1120S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1120					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.P1120S(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTAGGGCAGGGCCCATGTTA	0.423			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								27	133	---	---	---	---	0	0
SIDT2	51092	broad.mit.edu	37	11	117052139	117052139	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:117052139G>C	ENST00000324225.4	+	2	722	c.191G>C	c.(190-192)gGc>gCc	p.G64A	SIDT2_ENST00000431081.2_Missense_Mutation_p.G64A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	64						integral to membrane|lysosomal membrane		p.G64A(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CAGACAGAGGGCGTGCGTGTG	0.597											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	42	---	---	---	---	0	0
CCDC15	80071	broad.mit.edu	37	11	124857794	124857794	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:124857794C>T	ENST00000529051.1	+	8	1931	c.1672C>T	c.(1672-1674)Cag>Tag	p.Q558*	CCDC15_ENST00000344762.5_Nonsense_Mutation_p.Q558*			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	558						centrosome		p.Q558*(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACCCAAATGTCAGGACCAGGA	0.433													16	481	---	---	---	---	0	0
FGFR1OP2	26127	broad.mit.edu	37	12	27107226	27107226	+	Splice_Site	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:27107226G>T	ENST00000229395.3	+	2	477	c.135G>T	c.(133-135)caG>caT	p.Q45H	FGFR1OP2_ENST00000327214.5_Splice_Site_p.Q45H|FGFR1OP2_ENST00000546072.1_Splice_Site_p.Q45H	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	45						cytoplasm		p.Q45H(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					CCATGAAACAGGTTTGATTTT	0.348													3	65	---	---	---	---	0	0
ZNF641	121274	broad.mit.edu	37	12	48737263	48737263	+	Silent	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:48737263C>A	ENST00000544117.2	-	6	1518	c.810G>T	c.(808-810)ggG>ggT	p.G270G	ZNF641_ENST00000448928.3_Silent_p.G247G|ZNF641_ENST00000301042.3_Silent_p.G270G|ZNF641_ENST00000547026.1_Silent_p.G256G			Q96N77	ZN641_HUMAN	zinc finger protein 641	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G270G(1)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CAAACTGTTTCCCACACTGGG	0.527													6	123	---	---	---	---	0	0
GCN1L1	10985	broad.mit.edu	37	12	120615277	120615277	+	Silent	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:120615277G>A	ENST00000300648.6	-	9	823	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	271					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.L271L(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACTCCTCAGTAAGGACTTC	0.448													19	66	---	---	---	---	0	0
METTL3	56339	broad.mit.edu	37	14	21971365	21971365	+	Nonstop_Mutation	SNP	A	A	C			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr14:21971365A>C	ENST00000538267.1	-	4	576	c.460T>G	c.(460-462)Tag>Gag	p.*154E	METTL3_ENST00000298717.4_Missense_Mutation_p.I225R			Q86U44	MTA70_HUMAN	methyltransferase like 3	0					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	p.I225R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGGCTCTCTATCTCCAGATC	0.443													97	210	---	---	---	---	0	0
SPSB3	90864	broad.mit.edu	37	16	1831441	1831441	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:1831441A>G	ENST00000566339.1	-	2	374	c.44T>C	c.(43-45)cTg>cCg	p.L15P	SPSB3_ENST00000301717.4_Missense_Mutation_p.L15P	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	15					intracellular signal transduction			p.L15P(1)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGCTGCACTCAGGACGAAGTG	0.617													16	19	---	---	---	---	0	0
CCDC135	84229	broad.mit.edu	37	16	57756742	57756742	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:57756742A>G	ENST00000360716.3	+	11	1618	c.1397A>G	c.(1396-1398)gAg>gGg	p.E466G	CCDC135_ENST00000336825.8_Missense_Mutation_p.E401G|CCDC135_ENST00000394337.4_Missense_Mutation_p.E466G			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	466						cytoplasm		p.E466G(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCACCTATGAGGACTTGCAG	0.597													3	75	---	---	---	---	0	0
AFG3L2	10939	broad.mit.edu	37	18	12340252	12340252	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr18:12340252G>T	ENST00000269143.3	-	15	2159	c.1928C>A	c.(1927-1929)aCa>aAa	p.T643K		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	643					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.T643K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCACCAGTTGTAATTCTTCC	0.393													10	272	---	---	---	---	0	0
SLC5A5	6528	broad.mit.edu	37	19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602													76	154	---	---	---	---	0	0
FTCD	10841	broad.mit.edu	37	21	47570139	47570139	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr21:47570139G>T	ENST00000397748.1	-	7	843	c.800C>A	c.(799-801)tCa>tAa	p.S267*	FTCD_ENST00000355384.2_Nonsense_Mutation_p.S267*|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Nonsense_Mutation_p.S267*|FTCD_ENST00000291670.5_Nonsense_Mutation_p.S267*|FTCD_ENST00000397746.3_Nonsense_Mutation_p.S267*|FTCD_ENST00000359679.2_Nonsense_Mutation_p.S267*			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	267	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	p.S267*(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CACCAGCTGTGAGCCCACCAC	0.672													3	18	---	---	---	---	0	0
PPEF1	5475	broad.mit.edu	37	X	18842131	18842131	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chrX:18842131A>G	ENST00000361511.4	+	17	2086	c.1592A>G	c.(1591-1593)aAc>aGc	p.N531S	PPEF1_ENST00000359763.6_Missense_Mutation_p.N478S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.N469S|PPEF1_ENST00000544635.1_Missense_Mutation_p.N466S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	531					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.N531S(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AATCTGGTAAACATAGACCAA	0.423													97	51	---	---	---	---	0	0
PGM1	5236	broad.mit.edu	37	1	64089265	64089265	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:64089265A>G	ENST00000371083.4	+	1	502	c.134A>G	c.(133-135)tAt>tGt	p.Y45C	PGM1_ENST00000540265.1_Intron|PGM1_ENST00000371084.3_Intron	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	27					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	p.Y45C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AAGAAAACCTATTATTTTGAG	0.418													29	117	---	---	---	---	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576873	158576873	+	Silent	SNP	C	C	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:158576873C>T	ENST00000361284.1	+	1	645	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T215T(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTTCATCACCATCTCCTACG	0.537													28	267	---	---	---	---	0	0
RNASEL	6041	broad.mit.edu	37	1	182550489	182550489	+	Silent	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:182550489G>A	ENST00000367559.3	-	5	2029	c.1776C>T	c.(1774-1776)cgC>cgT	p.R592R	RNASEL_ENST00000539397.1_Silent_p.R592R|RNASEL_ENST00000444138.1_Silent_p.R592R	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	592	KEN.		R -> H (in dbSNP:rs35896902).		mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	p.R592R(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCGTCCTATAGCGGCTGAAGA	0.413													46	187	---	---	---	---	0	0
ATP2B4	493	broad.mit.edu	37	1	203682293	203682293	+	Splice_Site	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:203682293G>A	ENST00000357681.5	+	14	3335	c.2212G>A	c.(2212-2214)Gta>Ata	p.V738I	ATP2B4_ENST00000391954.2_Splice_Site_p.V738I|ATP2B4_ENST00000341360.2_Splice_Site_p.V738I|ATP2B4_ENST00000367218.3_Splice_Site_p.V738I|ATP2B4_ENST00000367219.3_Splice_Site_p.V726I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	738					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.V738I(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTGTTGGCAGGTAGAGCAAGA	0.502													34	153	---	---	---	---	0	0
LHCGR	3973	broad.mit.edu	37	2	48915655	48915655	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:48915655A>T	ENST00000294954.7	-	11	1302	c.1281T>A	c.(1279-1281)taT>taA	p.Y427*	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.Y365*|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Y400*	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	427					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.Y427*(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCATGGTTATAGTACTGGC	0.493													12	94	---	---	---	---	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693166	187693166	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:187693166A>T	ENST00000295131.2	-	9	1486	c.1447T>A	c.(1447-1449)Tta>Ata	p.L483I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	483					apoptosis		zinc ion binding	p.L483I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCATAGGTTAATTTTTTTGAA	0.318													17	85	---	---	---	---	0	0
CMYA5	202333	broad.mit.edu	37	5	79029070	79029070	+	Silent	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr5:79029070A>G	ENST00000446378.2	+	2	4513	c.4482A>G	c.(4480-4482)aaA>aaG	p.K1494K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1494						perinuclear region of cytoplasm		p.K1494K(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGAAGACAAACAAGATCTTT	0.403													13	213	---	---	---	---	0	0
PCDHB14	0	broad.mit.edu	37	5	140604725	140604725	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr5:140604725C>G	ENST00000239449.4	+	1	1648	c.1648C>G	c.(1648-1650)Ctg>Gtg	p.L550V	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L397V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		550	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCGCGTGCTGGTGCTGGA	0.716													5	79	---	---	---	---	0	0
VGF	7425	broad.mit.edu	37	7	100807837	100807837	+	Silent	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr7:100807837G>A	ENST00000249330.2	-	2	527	c.288C>T	c.(286-288)ccC>ccT	p.P96P	VGF_ENST00000445482.2_Silent_p.P96P	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	96					response to cAMP	extracellular space|transport vesicle	growth factor activity	p.P96P(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					TTGGTGCCGGGGGTGAGGCGG	0.716													4	21	---	---	---	---	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945484	119945484	+	Missense_Mutation	SNP	A	A	C	rs144062067	byFrequency	TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr8:119945484A>C	ENST00000297350.4	-	2	464	c.86T>G	c.(85-87)cTt>cGt	p.L29R		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	29					apoptosis|skeletal system development		cytokine activity|receptor activity	p.L29R(2)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTCATAATGAAGGTACTTTGG	0.443													36	165	---	---	---	---	0	0
NFIL3	4783	broad.mit.edu	37	9	94172250	94172250	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr9:94172250G>C	ENST00000297689.3	-	2	1161	c.767C>G	c.(766-768)tCa>tGa	p.S256*		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	256					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S256*(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GGGAGAGTGTGAGTACCCAGA	0.488													28	187	---	---	---	---	0	0
KIAA1217	56243	broad.mit.edu	37	10	24820812	24820812	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr10:24820812C>A	ENST00000376451.2	+	10	2445	c.2185C>A	c.(2185-2187)Cct>Act	p.P729T	KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1010T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1046T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T			Q5T5P2	SKT_HUMAN	KIAA1217	1046					embryonic skeletal system development	cytoplasm		p.P1046T(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAGTCGCCCCCTCCTCCTCC	0.517													3	55	---	---	---	---	0	0
RP11-574K11.31	0	broad.mit.edu	37	10	75565719	75565719	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr10:75565719G>A	ENST00000603027.1	-	7	2125	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	NDST2_ENST00000299641.4_Missense_Mutation_p.S378F|NDST2_ENST00000309979.6_Missense_Mutation_p.S501F						501								p.S501F(1)									TAGTTCACGAGAGCCTCCAGG	0.507													34	129	---	---	---	---	0	0
CD163	9332	broad.mit.edu	37	12	7640278	7640278	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr12:7640278A>G	ENST00000396620.3	-	7	1911	c.1826T>C	c.(1825-1827)cTc>cCc	p.L609P	CD163_ENST00000432237.2_Intron|CD163_ENST00000541972.1_Intron|CD163_ENST00000359156.4_Intron			Q86VB7	C163A_HUMAN	CD163 molecule	579	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.?(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCTGGAAGGAGACAGGGCTT	0.488													40	145	---	---	---	---	0	0
HCFC2	29915	broad.mit.edu	37	12	104487302	104487302	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr12:104487302C>T	ENST00000229330.4	+	10	1527	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	475					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.H475Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTTCTAATCATAATAGTCA	0.323													17	98	---	---	---	---	0	0
SEL1L	6400	broad.mit.edu	37	14	81993164	81993164	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr14:81993164C>T	ENST00000336735.4	-	3	369	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SEL1L_ENST00000555824.1_Missense_Mutation_p.E85K	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	85	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	p.E85K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTGACACTTTCCCCCTCTTGG	0.418													10	316	---	---	---	---	0	0
IGHV1-58	0	broad.mit.edu	37	14	107078542	107078542	+	RNA	SNP	C	C	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr14:107078542C>A	ENST00000390628.2	-	0	242																											AAGGCGTTGTCCACGAGCCTG	0.532													4	28	---	---	---	---	0	0
IGF1R	3480	broad.mit.edu	37	15	99482581	99482581	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr15:99482581A>G	ENST00000268035.6	+	18	4060	c.3449A>G	c.(3448-3450)aAa>aGa	p.K1150R	IGF1R_ENST00000558762.1_Missense_Mutation_p.K1149R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1150	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.K1150R(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TTCACAGTCAAAATCGGAGGT	0.498													36	160	---	---	---	---	0	0
C16orf46	123775	broad.mit.edu	37	16	81095725	81095725	+	Missense_Mutation	SNP	T	T	C	rs17855893		TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr16:81095725T>C	ENST00000378611.4	-	3	344	c.229A>G	c.(229-231)Act>Gct	p.T77A	C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.T77A|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	77			T -> S (in dbSNP:rs17855893).					p.T77A(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GCTGGAGAAGTCCTTCCCCAC	0.552													29	100	---	---	---	---	0	0
TAF15	8148	broad.mit.edu	37	17	34147368	34147368	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:34147368C>T	ENST00000588240.1	+	5	332	c.217C>T	c.(217-219)Caa>Taa	p.Q73*	AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000592237.1_5'UTR|TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q70*	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	73	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	p.Q73*(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTATGAGAATCAAAAGCAGAG	0.348			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								16	73	---	---	---	---	0	0
SRSF2	6427	broad.mit.edu	37	17	74732290	74732290	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:74732290T>A	ENST00000392485.2	-	2	791	c.619A>T	c.(619-621)Aag>Tag	p.K207*	MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Nonsense_Mutation_p.K207*|SRSF2_ENST00000508921.3_Nonsense_Mutation_p.K195*|RP11-318A15.7_ENST00000587459.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	207	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	p.K187*(1)|p.K207*(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGGGGACTCTTCGATCGCGAC	0.547			Mis		"""MDS, CLL"""								5	175	---	---	---	---	0	0
SRSF2	6427	broad.mit.edu	37	17	74732291	74732291	+	Silent	SNP	C	C	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:74732291C>A	ENST00000392485.2	-	2	790	c.618G>T	c.(616-618)tcG>tcT	p.S206S	MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Silent_p.S206S|SRSF2_ENST00000508921.3_Silent_p.S194S|RP11-318A15.7_ENST00000587459.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	206	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	p.S186S(1)|p.S206S(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGGGACTCTTCGATCGCGACC	0.547			Mis		"""MDS, CLL"""								6	175	---	---	---	---	0	0
ESCO1	114799	broad.mit.edu	37	18	19116092	19116092	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr18:19116092G>C	ENST00000269214.5	-	10	3035	c.2098C>G	c.(2098-2100)Cta>Gta	p.L700V		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	700					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.L700V(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TAGCACATTAGTGGAGCCTGT	0.333													44	170	---	---	---	---	0	0
KEAP1	9817	broad.mit.edu	37	19	10602358	10602358	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:10602358G>A	ENST00000171111.5	-	3	1767	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	KEAP1_ENST00000393623.2_Missense_Mutation_p.A407V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.A407V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCTCATGGGGGCGCAGGGCGA	0.652													5	17	---	---	---	---	0	0
IZUMO2	126123	broad.mit.edu	37	19	50662822	50662822	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:50662822T>C	ENST00000293405.3	-	3	323	c.323A>G	c.(322-324)gAa>gGa	p.E108G		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	108						integral to membrane		p.E108G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CACCAGCTCTTCCAGCAGAGG	0.493													9	87	---	---	---	---	0	0
NLRP9	338321	broad.mit.edu	37	19	56244522	56244522	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:56244522G>T	ENST00000332836.2	-	2	702	c.675C>A	c.(673-675)ttC>ttA	p.F225L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	225	NACHT.					cytoplasm	ATP binding	p.F225L(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CATCCATGATGAACAGAATTC	0.483													5	48	---	---	---	---	0	0
MAPRE1	22919	broad.mit.edu	37	20	31424469	31424469	+	Silent	SNP	A	A	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr20:31424469A>G	ENST00000375571.5	+	4	436	c.297A>G	c.(295-297)ggA>ggG	p.G99G		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	99	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	p.G99G(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TAGTAAAAGGAAAGTTTCAGG	0.398													13	73	---	---	---	---	0	0
HDAC6	10013	broad.mit.edu	37	X	48674947	48674947	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chrX:48674947T>G	ENST00000334136.5	+	19	1876	c.1698T>G	c.(1696-1698)ttT>ttG	p.F566L	HDAC6_ENST00000376619.2_Missense_Mutation_p.F566L|HDAC6_ENST00000444343.2_Missense_Mutation_p.F580L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	566	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.F566L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTTCCAACTTTGACTCCATCT	0.592													16	22	---	---	---	---	0	0
HDAC6	10013	broad.mit.edu	37	X	48674948	48674948	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chrX:48674948G>C	ENST00000334136.5	+	19	1877	c.1699G>C	c.(1699-1701)Gac>Cac	p.D567H	HDAC6_ENST00000376619.2_Missense_Mutation_p.D567H|HDAC6_ENST00000444343.2_Missense_Mutation_p.D581H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	567	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.D567Y(1)|p.D567H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TTCCAACTTTGACTCCATCTA	0.592													16	21	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158585065	158585065	+	Silent	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr1:158585065G>A	ENST00000368147.4	-	48	6909	c.6729C>T	c.(6727-6729)gaC>gaT	p.D2243D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D2243D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTAGAGCTGGTCCCACTGCT	0.542													87	233	---	---	---	---	0	0
CCDC121	79635	broad.mit.edu	37	2	27850383	27850383	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:27850383T>C	ENST00000324364.3	-	2	464	c.284A>G	c.(283-285)aAt>aGt	p.N95S	ZNF512_ENST00000556601.1_Intron|CCDC121_ENST00000394775.3_Missense_Mutation_p.N257S|RP11-158I13.2_ENST00000505973.1_RNA	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	95								p.N95S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GGATTGGATATTTTCCTTTTG	0.393													158	322	---	---	---	---	0	0
ITGA4	3676	broad.mit.edu	37	2	182376434	182376434	+	Silent	SNP	T	T	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:182376434T>C	ENST00000397033.2	+	17	2284	c.1854T>C	c.(1852-1854)ttT>ttC	p.F618F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	618					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.F618F(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGATAAACTTTGCAAGGTTTT	0.303													62	181	---	---	---	---	0	0
AGFG1	3267	broad.mit.edu	37	2	228389506	228389506	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:228389506A>C	ENST00000310078.8	+	5	829	c.569A>C	c.(568-570)cAg>cCg	p.Q190P	AGFG1_ENST00000409979.2_Missense_Mutation_p.Q190P|AGFG1_ENST00000409315.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409171.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000373671.3_Missense_Mutation_p.Q190P	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1						cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	p.Q190P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTCAAGGGCAGCAGCAGGAG	0.423													57	194	---	---	---	---	0	0
VGLL4	9686	broad.mit.edu	37	3	11744501	11744501	+	Translation_Start_Site	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:11744501G>A	ENST00000404339.1	-	0	358				VGLL4_ENST00000273038.3_Missense_Mutation_p.T3M			Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.T3M(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATCCAATGGCGTCTCCATTCC	0.368													11	44	---	---	---	---	0	0
AMIGO3	386724	broad.mit.edu	37	3	49755885	49755885	+	Silent	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:49755885G>A	ENST00000535833.1	-	10	4464	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.A338A|RNF123_ENST00000433785.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	338	Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane		p.A338A(1)		endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGTTGCCTATGGCCAAGCTGC	0.667													9	34	---	---	---	---	0	0
GPR160	26996	broad.mit.edu	37	3	169802125	169802125	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:169802125T>C	ENST00000355897.5	+	4	973	c.365T>C	c.(364-366)cTg>cCg	p.L122P		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	122						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GATTATTGCCTGAATTTCTCT	0.289													3	101	---	---	---	---	0	0
RAI14	26064	broad.mit.edu	37	5	34826505	34826505	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:34826505C>G	ENST00000265109.3	+	16	3007	c.2720C>G	c.(2719-2721)tCa>tGa	p.S907*	RAI14_ENST00000397449.1_Nonsense_Mutation_p.S900*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.S878*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.S907*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.S899*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.S910*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.S907*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	907						cell cortex|cytoskeleton	protein binding	p.S907*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTCTCCTACTCAACAAGCTCA	0.512													28	67	---	---	---	---	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813486	101813486	+	Silent	SNP	G	G	A	rs145273103		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:101813486G>A	ENST00000506729.1	-	3	867	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000379807.3_Silent_p.F232F|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	232						integral to membrane|plasma membrane	transporter activity	p.F232F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCCCAAGGATGAAGAAAGACA	0.383													77	206	---	---	---	---	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128957923	128957923	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:128957923A>C	ENST00000274487.4	+	10	1779	c.1634A>C	c.(1633-1635)aAt>aCt	p.N545T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	545	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N545T(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTACAAACAAATCCGCAGAGT	0.428													28	70	---	---	---	---	0	0
HIST1H4K	8362	broad.mit.edu	37	6	27799301	27799301	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:27799301G>C	ENST00000357549.2	-	1	4	c.5C>G	c.(4-6)tCt>tGt	p.S2C		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	2					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.S2C(1)		breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						GCCGCGGCCAGACATGACGAG	0.592													16	68	---	---	---	---	0	0
PTK7	0	broad.mit.edu	37	6	43106701	43106701	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:43106701A>G	ENST00000230419.4	+	8	1564	c.1343A>G	c.(1342-1344)aAc>aGc	p.N448S	PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Missense_Mutation_p.N448S|PTK7_ENST00000481273.1_Missense_Mutation_p.N456S|PTK7_ENST00000345201.2_Missense_Mutation_p.N448S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	448	Ig-like C2-type 5.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGGTACAGAAACCAGATGCTC	0.557													3	110	---	---	---	---	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147206	55147206	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:55147206G>A	ENST00000370862.3	+	7	1625	c.1289G>A	c.(1288-1290)aGc>aAc	p.S430N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	430					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.S430N(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTAGCATAAGCACACTCCCA	0.408													11	25	---	---	---	---	0	0
COPS6	10980	broad.mit.edu	37	7	99686977	99686977	+	Silent	SNP	C	C	G			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr7:99686977C>G	ENST00000303904.3	+	2	178	c.141C>G	c.(139-141)gtC>gtG	p.V47V	COPS6_ENST00000418625.1_Silent_p.V46V	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	47	MPN.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	p.V47V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATCCCCTTGTCATTCTCAACA	0.592													75	191	---	---	---	---	0	0
LRCH4	4034	broad.mit.edu	37	7	100172836	100172836	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr7:100172836G>A	ENST00000310300.6	-	18	1998	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V	LRCH4_ENST00000497245.1_Missense_Mutation_p.A197V	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	649	CH.				nervous system development	PML body	protein binding	p.A649V(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCGGTAGGGCCTTGCCCCC	0.697													5	13	---	---	---	---	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538909	23538909	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr8:23538909T>C	ENST00000380871.4	-	2	567	c.530A>G	c.(529-531)tAt>tGt	p.Y177C	NKX3-1_ENST00000523261.1_Missense_Mutation_p.Y102C	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	177					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	p.Y177C(2)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CTTAGTCTTATAGCGTCTGTT	0.582													80	250	---	---	---	---	0	0
RP11-464F9.1	0	broad.mit.edu	37	10	75482316	75482316	+	RNA	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr10:75482316G>A	ENST00000399449.3	-	0	526				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							CCCAAAGCTGGCATCTATAAG	0.428													4	228	---	---	---	---	0	0
ATP2A2	488	broad.mit.edu	37	12	110765384	110765384	+	Silent	SNP	T	T	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr12:110765384T>A	ENST00000395494.2	+	7	1139	c.576T>A	c.(574-576)gcT>gcA	p.A192A	ATP2A2_ENST00000539276.2_Silent_p.A219A|ATP2A2_ENST00000308664.6_Silent_p.A219A			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	219					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	p.A219A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTGGGAAAGCTATGGGAGTGG	0.468													100	239	---	---	---	---	0	0
EEF1DP3	0	broad.mit.edu	37	13	32527029	32527029	+	RNA	SNP	C	C	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr13:32527029C>A	ENST00000428783.1	+	0	729																											TGCCCGGCCACTGGGCCACAG	0.642													10	19	---	---	---	---	0	0
NOVA1	4857	broad.mit.edu	37	14	26917506	26917506	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:26917506T>A	ENST00000539517.2	-	5	1500	c.1183A>T	c.(1183-1185)Acc>Tcc	p.T395S	NOVA1_ENST00000267422.7_Missense_Mutation_p.T273S|NOVA1_ENST00000465357.2_Missense_Mutation_p.T371S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	398	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.T395S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TATCCATTGGTTGCAGCAGTA	0.522													13	36	---	---	---	---	0	0
DDHD1	0	broad.mit.edu	37	14	53521264	53521264	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:53521264A>G	ENST00000357758.3	-	11	2512	c.2329T>C	c.(2329-2331)Tca>Cca	p.S777P	DDHD1_ENST00000395606.1_Missense_Mutation_p.S784P|DDHD1_ENST00000323669.5_Missense_Mutation_p.S777P	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	777	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GAGTCTTTTGATGTTTCAGAT	0.468													4	176	---	---	---	---	0	0
XAB2	56949	broad.mit.edu	37	19	7691147	7691147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:7691147C>A	ENST00000358368.4	-	5	569	c.532G>T	c.(532-534)Gag>Tag	p.E178*	XAB2_ENST00000534844.1_Nonsense_Mutation_p.E175*	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	178					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCTGCACTCTCAGGACTCAGC	0.657								Direct reversal of damage;Nucleotide excision repair (NER)					4	211	---	---	---	---	0	0
OLFM2	93145	broad.mit.edu	37	19	9965490	9965490	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:9965490C>T	ENST00000264833.4	-	6	922	c.737G>A	c.(736-738)cGt>cAt	p.R246H	OLFM2_ENST00000590841.1_Missense_Mutation_p.R168H	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	246	Olfactomedin-like.					extracellular region		p.R246H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCCCAGGGTACGGAACTCCAG	0.612													6	23	---	---	---	---	0	0
NF2	4771	broad.mit.edu	37	22	30035110	30035110	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr22:30035110C>T	ENST00000338641.4	+	3	713	c.272C>T	c.(271-273)cCa>cTa	p.P91L	NF2_ENST00000361676.4_Missense_Mutation_p.P49L|NF2_ENST00000361452.4_Intron|NF2_ENST00000413209.2_Missense_Mutation_p.P91L|NF2_ENST00000361166.4_Missense_Mutation_p.P91L|NF2_ENST00000334961.7_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.P91L|NF2_ENST00000403435.1_Missense_Mutation_p.P91L|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Missense_Mutation_p.P91L|NF2_ENST00000353887.4_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	91	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.H84_F100del(1)|p.V86_Q111>E(1)|p.P91L(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AAGGAAGAACCAGTCACCTTT	0.423			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				35	88	---	---	---	---	0	0
RTCB	51493	broad.mit.edu	37	22	32794016	32794016	+	Silent	SNP	A	A	G			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr22:32794016A>G	ENST00000216038.5	-	7	824	c.726T>C	c.(724-726)gcT>gcC	p.A242A	RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.A242A(1)									TTTTTTTAGCAGCATACTCAT	0.458													45	136	---	---	---	---	0	0
ZNF182	7569	broad.mit.edu	37	X	47837103	47837103	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chrX:47837103G>T	ENST00000396965.1	-	7	733	c.383C>A	c.(382-384)aCa>aAa	p.T128K	ZNF182_ENST00000305127.6_Missense_Mutation_p.T128K|ZNF182_ENST00000376943.3_Missense_Mutation_p.T109K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T128K(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GGTGATAATTGTTTTCTTGTC	0.388													6	63	---	---	---	---	0	0
MT-CO1	4512	broad.mit.edu	37	M	6709	6709	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chrM:6709G>A	ENST00000361624.2	+	1	806	c.806G>A	c.(805-807)gGa>gAa	p.G269E						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AGAACCATTTGGATACATAGG	0.393													2	1	---	---	---	---	0	0
FCRL4	83417	broad.mit.edu	37	1	157551405	157551405	+	Missense_Mutation	SNP	C	C	T	rs143188744	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:157551405C>T	ENST00000271532.1	-	7	1300	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	389						integral to membrane|plasma membrane	receptor activity	p.A389T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCTCCCGCGGCGACAAGGCCA	0.572													5	44	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	186147655	186147655	+	Missense_Mutation	SNP	G	G	A	rs144069476	by1000genomes	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:186147655G>A	ENST00000271588.4	+	104	16280	c.16051G>A	c.(16051-16053)Ggg>Agg	p.G5351R	HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5351	EGF-like 6; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G5351W(1)|p.G5351R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTAGGGGACGGGAAATCTTG	0.483													11	333	---	---	---	---	0	0
UBR3	130507	broad.mit.edu	37	2	170930058	170930058	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr2:170930058A>G	ENST00000272793.5	+	36	5190	c.5140A>G	c.(5140-5142)Ata>Gta	p.I1714V	UBR3_ENST00000418381.1_Missense_Mutation_p.I1714V|UBR3_ENST00000392631.1_Missense_Mutation_p.I535V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1714					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	p.I567V(1)|p.I1714V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATTTGATATTATAACTCAGTG	0.418													91	137	---	---	---	---	0	0
SCN11A	11280	broad.mit.edu	37	3	38936053	38936053	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:38936053G>A	ENST00000450244.1	-	15	3004	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R936C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R936C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R936C			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	936					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTGTGATGCGCTGTGCATTA	0.493													10	480	---	---	---	---	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266098	41266098	+	Missense_Mutation	SNP	A	A	T	rs121913396		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:41266098A>T	ENST00000349496.5	+	3	375	c.95A>T	c.(94-96)gAc>gTc	p.D32V	CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCTTACCTGGACTCTGGAATC	0.483	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	52	---	---	---	---	0	0
FHIT	2272	broad.mit.edu	37	3	59999869	59999869	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:59999869A>G	ENST00000468189.1	-	6	483	c.113T>C	c.(112-114)gTg>gCg	p.V38A	FHIT_ENST00000341848.4_Missense_Mutation_p.V38A|FHIT_ENST00000492590.1_Missense_Mutation_p.V38A|FHIT_ENST00000476844.1_Missense_Mutation_p.V38A|FHIT_ENST00000466788.1_Intron			P49789	FHIT_HUMAN	fragile histidine triad	38	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	p.V38A(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CAGCGGGCACACAAGGACATC	0.542			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				6	84	---	---	---	---	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621299	41621299	+	Silent	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr4:41621299G>A	ENST00000313860.7	+	8	831	c.777G>A	c.(775-777)gaG>gaA	p.E259E	LIMCH1_ENST00000513024.1_Silent_p.E100E|LIMCH1_ENST00000509638.1_Silent_p.E100E|LIMCH1_ENST00000512820.1_Silent_p.E259E|LIMCH1_ENST00000514096.1_Silent_p.E112E|LIMCH1_ENST00000512632.1_Silent_p.E259E|LIMCH1_ENST00000503057.1_Silent_p.E100E|LIMCH1_ENST00000511496.1_Silent_p.E100E|LIMCH1_ENST00000508501.1_Silent_p.E259E|LIMCH1_ENST00000381753.4_Silent_p.E105E|LIMCH1_ENST00000509277.1_Silent_p.E105E|LIMCH1_ENST00000396595.3_Silent_p.E105E|LIMCH1_ENST00000509454.1_Silent_p.E107E|LIMCH1_ENST00000512946.1_Silent_p.E259E	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	259					actomyosin structure organization		actin binding|zinc ion binding	p.E259E(1)|p.E100E(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCCATGGTGAGCCGAAATCAG	0.547													18	261	---	---	---	---	0	0
PCDHB7	0	broad.mit.edu	37	5	140554610	140554610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr5:140554610C>T	ENST00000231137.3	+	1	2368	c.2194C>T	c.(2194-2196)Cga>Tga	p.R732*		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		732					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R732*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTTTCCACGACATCTGGT	0.637													21	525	---	---	---	---	0	0
CDK19	23097	broad.mit.edu	37	6	110948346	110948346	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:110948346T>C	ENST00000368911.3	-	7	828	c.649A>G	c.(649-651)Ata>Gta	p.I217V	CDK19_ENST00000323817.3_Missense_Mutation_p.I157V|CDK19_ENST00000413605.2_Missense_Mutation_p.I93V	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	217	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding	p.I217V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATTGCCCATATATCTGGGAAG	0.318													45	80	---	---	---	---	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378446	31378446	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr7:31378446A>G	ENST00000297142.3	-	2	759	c.437T>C	c.(436-438)cTt>cCt	p.L146P		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	146	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L146P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AATTTCAGAAAGTGCCCAGAT	0.443													42	94	---	---	---	---	0	0
ENPP2	0	broad.mit.edu	37	8	120569893	120569893	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr8:120569893C>T	ENST00000427067.2	-	26	2703	c.2523G>A	c.(2521-2523)atG>atA	p.M841I	ENPP2_ENST00000522167.1_Missense_Mutation_p.M455I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M872I|ENPP2_ENST00000075322.6_Missense_Mutation_p.M820I|ENPP2_ENST00000522826.1_Missense_Mutation_p.M845I			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	820	Required for secretion (By similarity).				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.M872I(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTGCATCTTCATGAGTTCTT	0.463													7	228	---	---	---	---	0	0
CRB2	286204	broad.mit.edu	37	9	126132707	126132707	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:126132707C>A	ENST00000373631.3	+	7	1376	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	CRB2_ENST00000359999.3_Missense_Mutation_p.L459M|CRB2_ENST00000373629.2_Missense_Mutation_p.L127M	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	459	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding	p.L459M(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGGTGGCCCCCTGGGTCTGGC	0.617													5	56	---	---	---	---	0	0
CRB2	286204	broad.mit.edu	37	9	126132708	126132708	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:126132708T>A	ENST00000373631.3	+	7	1377	c.1376T>A	c.(1375-1377)cTg>cAg	p.L459Q	CRB2_ENST00000359999.3_Missense_Mutation_p.L459Q|CRB2_ENST00000373629.2_Missense_Mutation_p.L127Q	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	459	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding	p.L459Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGTGGCCCCCTGGGTCTGGCA	0.612													5	55	---	---	---	---	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131772101	131772101	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:131772101T>C	ENST00000372564.3	-	9	933	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	SH3GLB2_ENST00000372554.4_Missense_Mutation_p.Y267C|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.Y242C	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	263	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	p.Y263C(1)		NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CTGTGCGTAGTAGGTTGTCTG	0.622													9	13	---	---	---	---	0	0
CUL2	8453	broad.mit.edu	37	10	35351967	35351967	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr10:35351967G>A	ENST00000374748.1	-	4	456	c.143C>T	c.(142-144)gCc>gTc	p.A48V	CUL2_ENST00000374742.1_Missense_Mutation_p.A48V|CUL2_ENST00000374749.3_Missense_Mutation_p.A48V|CUL2_ENST00000374751.3_Missense_Mutation_p.A48V|CUL2_ENST00000374746.1_Missense_Mutation_p.A48V|CUL2_ENST00000537177.1_Missense_Mutation_p.A67V|CUL2_ENST00000602371.1_Missense_Mutation_p.P6S			Q13617	CUL2_HUMAN	cullin 2	48					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.A48V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTCAGGATAGGCCACACATAA	0.313													11	118	---	---	---	---	0	0
MEN1	0	broad.mit.edu	37	11	64572284	64572284	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:64572284C>T	ENST00000337652.1	-	10	1873	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	MEN1_ENST00000394376.1_Missense_Mutation_p.R457Q|MEN1_ENST00000377321.1_Missense_Mutation_p.R417Q|MEN1_ENST00000312049.6_Missense_Mutation_p.R452Q|MEN1_ENST00000377316.2_Missense_Mutation_p.R397Q|MEN1_ENST00000377313.1_Missense_Mutation_p.R457Q|MEN1_ENST00000315422.4_Missense_Mutation_p.R452Q|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Missense_Mutation_p.R452Q|MEN1_ENST00000394374.2_Missense_Mutation_p.R457Q|MEN1_ENST00000443283.1_Missense_Mutation_p.R457Q	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	457					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.R452Q(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CACCTTCTGCCGCACCTGGGC	0.726			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				21	119	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38060572	38060572	+	Nonstop_Mutation	SNP	A	A	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr14:38060572A>C	ENST00000250448.2	-	2	1478	c.1417T>G	c.(1417-1419)Tag>Gag	p.*473E	FOXA1_ENST00000540786.1_Nonstop_Mutation_p.*440E|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	0					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.*473E(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCCGGGAGCTAGGAAGTGTTT	0.562													4	88	---	---	---	---	0	0
LAMA3	3909	broad.mit.edu	37	18	21426327	21426327	+	Silent	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr18:21426327C>T	ENST00000313654.9	+	31	4027	c.3786C>T	c.(3784-3786)ggC>ggT	p.G1262G	LAMA3_ENST00000399516.3_Silent_p.G1262G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1262	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G1262G(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCACAAGGGCGCCCTGCCTT	0.632													7	189	---	---	---	---	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572930	38572930	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr19:38572930T>C	ENST00000222345.6	+	3	1234	c.725T>C	c.(724-726)cTc>cCc	p.L242P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	242					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.L242P(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCGAGCTCCTCCGGGCAGAT	0.701													3	58	---	---	---	---	0	0
CEP250	11190	broad.mit.edu	37	20	34091637	34091637	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr20:34091637C>G	ENST00000397527.1	+	30	6160	c.5440C>G	c.(5440-5442)Cag>Gag	p.Q1814E	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1758E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1814	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	p.Q1814E(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCCCTAGCCCAGAGGGACCA	0.607													5	100	---	---	---	---	0	0
MXRA5	25878	broad.mit.edu	37	X	3242966	3242966	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chrX:3242966C>A	ENST00000217939.6	-	5	914	c.760G>T	c.(760-762)Gca>Tca	p.A254S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	254	LRRCT.					extracellular region		p.A254S(3)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGCACATTGCACACAACTGA	0.408													9	46	---	---	---	---	0	0
MT-RNR2	0	broad.mit.edu	37	M	2205	2205	+	RNA	SNP	T	T	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chrM:2205T>C	ENST00000387347.2	+	0	535					NR_039705.1																						TTAAGAAAGCGTTCAAGCTCA	0.388													6	2	---	---	---	---	0	0
NPHP4	261734	broad.mit.edu	37	1	5964828	5964828	+	Silent	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:5964828C>T	ENST00000378156.4	-	16	2257	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	664					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.K664K(2)|p.K664N(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AATACACAGTCTTTGGCCATG	0.577													18	124	---	---	---	---	0	0
HP1BP3	50809	broad.mit.edu	37	1	21103089	21103089	+	Splice_Site	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:21103089C>G	ENST00000312239.5	-	4	490		c.e4+1		HP1BP3_ENST00000375000.1_Splice_Site|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3						nucleosome assembly	nucleosome|nucleus	DNA binding	p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TAACTCCTTACTCCTTTTTGG	0.368													46	243	---	---	---	---	0	0
HSPG2	3339	broad.mit.edu	37	1	22216543	22216543	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:22216543T>A	ENST00000374695.3	-	6	584	c.505A>T	c.(505-507)Atc>Ttc	p.I169F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	169	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.I169F(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCGCTGGAGATGACCCTGAGC	0.617													18	147	---	---	---	---	0	0
ASH1L	55870	broad.mit.edu	37	1	155448258	155448258	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:155448258C>A	ENST00000368346.3	-	3	5042	c.4403G>T	c.(4402-4404)aGt>aTt	p.S1468I	ASH1L_ENST00000392403.3_Missense_Mutation_p.S1468I			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1468					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.S1468I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGAGGAACACTGGGGTAGGT	0.488													35	175	---	---	---	---	0	0
FASLG	356	broad.mit.edu	37	1	172635069	172635069	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:172635069T>G	ENST00000367721.2	+	4	943	c.759T>G	c.(757-759)agT>agG	p.S253R	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	253					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	p.S253R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						ATCTTACCAGTGCTGATCATT	0.473													37	208	---	---	---	---	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390820	208390820	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:208390820C>T	ENST00000367033.3	-	2	1205	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	150	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.E150K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGGGATGGCTCCACCAGGATG	0.582													8	274	---	---	---	---	0	0
SNTG2	54221	broad.mit.edu	37	2	1168808	1168808	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:1168808G>T	ENST00000308624.5	+	8	659	c.530G>T	c.(529-531)aGt>aTt	p.S177I	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	177					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.S177I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GACCACAGCAGTGGGGCCTCC	0.488													47	335	---	---	---	---	0	0
PROKR1	10887	broad.mit.edu	37	2	68873392	68873392	+	Missense_Mutation	SNP	T	T	A	rs35335568		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:68873392T>A	ENST00000303786.3	+	2	859	c.439T>A	c.(439-441)Tct>Act	p.S147T	PROKR1_ENST00000394342.2_Missense_Mutation_p.S147T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	147						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.S147T(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCGCACTGTCTCTCTCTATGT	0.592													8	213	---	---	---	---	0	0
MRPS9	64965	broad.mit.edu	37	2	105706377	105706377	+	Splice_Site	SNP	G	G	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:105706377G>C	ENST00000258455.3	+	7	685		c.e7-1			NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9						DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	p.?(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TATTTTAACAGAGACGTGATT	0.303													17	56	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179438165	179438165	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:179438165T>C	ENST00000589042.1	-	326	72918	c.72694A>G	c.(72694-72696)Aca>Gca	p.T24232A	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15292A|TTN_ENST00000460472.2_Missense_Mutation_p.T15167A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15359A|TTN_ENST00000591111.1_Missense_Mutation_p.T22591A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21664A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22591	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T15167A(2)|p.T15292A(1)|p.T15359A(1)|p.T21662A(1)|p.T21664A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATAGTTGTCACTTCAGGG	0.458													38	183	---	---	---	---	0	0
NGLY1	55768	broad.mit.edu	37	3	25792603	25792603	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:25792603C>G	ENST00000428257.1	-	4	751	c.644G>C	c.(643-645)aGa>aCa	p.R215T	NGLY1_ENST00000280700.5_Missense_Mutation_p.R215T|NGLY1_ENST00000417874.2_Missense_Mutation_p.R173T|NGLY1_ENST00000396649.3_Missense_Mutation_p.R215T|NGLY1_ENST00000422724.2_Missense_Mutation_p.R138T	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	215					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.R215T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATCCAATTTTCTAGCTCTCGA	0.348													15	82	---	---	---	---	0	0
XCR1	2829	broad.mit.edu	37	3	46063159	46063159	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:46063159C>G	ENST00000309285.3	-	2	637	c.281G>C	c.(280-282)gGc>gCc	p.G94A	XCR1_ENST00000542109.1_Missense_Mutation_p.G94A	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	94					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	p.G94A(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAGCACCCAGCCCCAGTGGTA	0.547													10	60	---	---	---	---	0	0
ITIH3	3699	broad.mit.edu	37	3	52836783	52836783	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:52836783T>A	ENST00000449956.2	+	13	1676	c.1670T>A	c.(1669-1671)cTc>cAc	p.L557H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	557					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.L557H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATTGAGCGGCTCTGGGCCTAC	0.607													10	48	---	---	---	---	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601501	13601501	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:13601501G>A	ENST00000040738.5	-	10	7158	c.7023C>T	c.(7021-7023)tcC>tcT	p.S2341S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2341							DNA binding	p.S2341S(2)									CAATGCTGGCGGAAATTGGCA	0.522													10	53	---	---	---	---	0	0
ADAM29	11086	broad.mit.edu	37	4	175897499	175897499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:175897499G>T	ENST00000359240.3	+	5	1493	c.823G>T	c.(823-825)Gag>Tag	p.E275*	ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E275*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	275	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.E275*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTGGAAGTCGGAGAACATTAC	0.413													10	373	---	---	---	---	0	0
RP11-389E17.1	0	broad.mit.edu	37	4	178897079	178897079	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:178897079T>A	ENST00000507870.1	+	5	744	c.282T>A	c.(280-282)taT>taA	p.Y94*															p.Y94*(2)		lung(8)|prostate(1)	9						CTCTGAAGTATATTTTTTCTA	0.378													13	303	---	---	---	---	0	0
CDH6	1004	broad.mit.edu	37	5	31267702	31267702	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:31267702C>G	ENST00000265071.2	+	2	387	c.122C>G	c.(121-123)tCt>tGt	p.S41C	RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_5'UTR	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	41					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.S41C(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGGAGCTCTCTGGAAACAGC	0.483													23	164	---	---	---	---	0	0
CRHBP	1393	broad.mit.edu	37	5	76259198	76259198	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:76259198G>T	ENST00000274368.4	+	6	1146	c.724G>T	c.(724-726)Gac>Tac	p.D242Y	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	242					female pregnancy|learning or memory|signal transduction	soluble fraction		p.D242N(1)|p.D242Y(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGGAATAGGAGACTTTGTGGA	0.473													64	307	---	---	---	---	0	0
CMYA5	202333	broad.mit.edu	37	5	79041206	79041206	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:79041206G>A	ENST00000446378.2	+	4	10927	c.10896G>A	c.(10894-10896)atG>atA	p.M3632I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3632	Amphipathic helix H2.|B-box coiled-coil; BBC.					perinuclear region of cytoplasm		p.M3632I(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGCAGAGCATGGACACTGCCA	0.488													19	104	---	---	---	---	0	0
LOX	4015	broad.mit.edu	37	5	121413182	121413182	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:121413182C>T	ENST00000231004.4	-	1	798	c.499G>A	c.(499-501)Gtg>Atg	p.V167M		NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	167					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	p.V167M(1)		endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TCGTCGCCCACCATGCCGTCC	0.622													26	133	---	---	---	---	0	0
LINC00518	0	broad.mit.edu	37	6	10430136	10430136	+	RNA	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:10430136T>G	ENST00000496285.1	-	0	899					NR_027793.1													p.T118P(1)									TACGCTTAAGTGTGATCACAG	0.483											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	330	---	---	---	---	0	0
TNXB	7148	broad.mit.edu	37	6	32023935	32023935	+	Silent	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:32023935G>T	ENST00000375244.3	-	24	8361	c.8160C>A	c.(8158-8160)acC>acA	p.T2720T	TNXB_ENST00000375247.2_Silent_p.T2720T			P22105	TENX_HUMAN	tenascin XB	2778	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.T2807T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGCTGGGGGTCTCTTCCT	0.627													9	66	---	---	---	---	0	0
MDGA1	266727	broad.mit.edu	37	6	37622688	37622688	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:37622688C>G	ENST00000297153.7	-	5	1778	c.600G>C	c.(598-600)aaG>aaC	p.K200N	MDGA1_ENST00000434837.3_Missense_Mutation_p.K200N|MDGA1_ENST00000505425.1_Missense_Mutation_p.K200N			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	200	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.K200N(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GGTTCTTCAGCTTCAGGACCT	0.612													15	82	---	---	---	---	0	0
FAM83B	222584	broad.mit.edu	37	6	54735287	54735287	+	Silent	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:54735287T>C	ENST00000306858.7	+	2	359	c.243T>C	c.(241-243)gaT>gaC	p.D81D		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	81								p.D81D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTACTGATGATTCCTGTGATG	0.433													53	329	---	---	---	---	0	0
FUT9	10690	broad.mit.edu	37	6	96651187	96651187	+	Silent	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:96651187C>T	ENST00000302103.5	+	3	482	c.156C>T	c.(154-156)aaC>aaT	p.N52N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	52					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.N52N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AAATGAAAAACTTCTTTTCCA	0.423													33	163	---	---	---	---	0	0
TIAM2	26230	broad.mit.edu	37	6	155451342	155451342	+	Silent	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:155451342C>T	ENST00000461783.3	+	6	2258	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	TIAM2_ENST00000318981.5_Silent_p.L329L|TIAM2_ENST00000529824.2_Silent_p.L329L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.L329L|TIAM2_ENST00000456144.1_Silent_p.L329L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	329					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.L329L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCATGCCAGCCTGAGCAACCG	0.577													15	88	---	---	---	---	0	0
UNC93A	54346	broad.mit.edu	37	6	167709633	167709633	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:167709633A>T	ENST00000230256.3	+	3	558	c.383A>T	c.(382-384)aAg>aTg	p.K128M	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.K128M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	128			K -> Q (in dbSNP:rs35313366).			integral to membrane|plasma membrane		p.K128M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AAGGCGGGAAAGCGTGGCAAA	0.552													30	219	---	---	---	---	0	0
SDK1	221935	broad.mit.edu	37	7	3681627	3681627	+	Silent	SNP	A	A	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:3681627A>T	ENST00000404826.2	+	4	742	c.603A>T	c.(601-603)acA>acT	p.T201T	SDK1_ENST00000389531.3_Silent_p.T201T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	201	Ig-like C2-type 2.				cell adhesion	integral to membrane		p.T201T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGAGGAAAACAGTTTCTCAAG	0.463													7	203	---	---	---	---	0	0
EGFR	1956	broad.mit.edu	37	7	55273231	55273231	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:55273231G>T	ENST00000275493.2	+	28	3731	c.3554G>T	c.(3553-3555)gGc>gTc	p.G1185V	EGFR_ENST00000454757.2_Missense_Mutation_p.G1132V|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1185					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G1185V(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGCCAAATGGCATCTTTAAG	0.527		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			9	74	---	---	---	---	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432054	117432054	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:117432054G>A	ENST00000160373.3	-	4	1287	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	399	Pro-rich.							p.P399L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGGAAGTGGGGGTGTGCTACT	0.527													92	272	---	---	---	---	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1851472	1851472	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr8:1851472G>A	ENST00000518288.1	+	17	1911	c.1748G>A	c.(1747-1749)gGc>gAc	p.G583D	ARHGEF10_ENST00000398564.1_Missense_Mutation_p.G584D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G521D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G559D|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.G545D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G584D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	584	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	p.G584D(1)|p.G336D(1)|p.G559D(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACCTCCAAAGGCCACCCCGAC	0.537													43	221	---	---	---	---	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126633	37126633	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:37126633A>G	ENST00000336755.5	+	2	410	c.304A>G	c.(304-306)Aga>Gga	p.R102G	ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.R101G|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	102							nucleic acid binding|zinc ion binding	p.R102G(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CAGTATTTATAGATGTAAAGG	0.393													13	448	---	---	---	---	0	0
HSDL2	84263	broad.mit.edu	37	9	115200783	115200783	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:115200783T>C	ENST00000398805.3	+	7	898	c.671T>C	c.(670-672)aTt>aCt	p.I224T	HSDL2_ENST00000262542.7_Missense_Mutation_p.I104T|HSDL2_ENST00000539114.1_Missense_Mutation_p.I19T|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Missense_Mutation_p.I151T	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	224						peroxisome	oxidoreductase activity|sterol binding	p.I224T(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GTTGATATCATTGCAGATGCA	0.368													21	126	---	---	---	---	0	0
LCN2	3934	broad.mit.edu	37	9	130913928	130913928	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:130913928G>A	ENST00000540948.1	+	3	360	c.287G>A	c.(286-288)tGt>tAt	p.C96Y	LCN2_ENST00000373013.2_Missense_Mutation_p.C98Y|LCN2_ENST00000372998.1_Missense_Mutation_p.C98Y|LCN2_ENST00000277480.2_Missense_Mutation_p.C96Y|LCN2_ENST00000373017.1_Missense_Mutation_p.C96Y|LCN2_ENST00000470902.1_3'UTR			P80188	NGAL_HUMAN	lipocalin 2	96					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.C96Y(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						AAAAAGAAGTGTGACTACTGG	0.582													21	117	---	---	---	---	0	0
LINC00842	0	broad.mit.edu	37	10	47133556	47133556	+	RNA	SNP	A	A	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:47133556A>T	ENST00000422732.2	-	0	435					NR_033957.2																						tcattaccaaatccattacag	0.453													6	83	---	---	---	---	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332506	71332506	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:71332506G>T	ENST00000242462.4	-	2	323	c.294C>A	c.(292-294)aaC>aaA	p.N98K		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	98	Helix-loop-helix motif.			N -> D (in Ref. 1; CAB45384).	central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	p.N98K(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CCGAGTTGAGGTTGTGCATTC	0.642													7	44	---	---	---	---	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182087	57182087	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:57182087C>A	ENST00000395123.2	-	11	1365		c.e11+1		SLC43A3_ENST00000529554.1_Splice_Site|SLC43A3_ENST00000533524.1_Splice_Site|SLC43A3_ENST00000352187.1_Splice_Site|SLC43A3_ENST00000395124.1_Splice_Site	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3						transmembrane transport	integral to membrane		p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCGCATCTCACCTGTCTTTCT	0.512													19	253	---	---	---	---	0	0
MPEG1	219972	broad.mit.edu	37	11	58979678	58979678	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:58979678G>A	ENST00000361050.3	-	1	746	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	221	MACPF.					integral to membrane		p.L221F(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAGGCCCTGAGGTGGTCCTCC	0.572													12	98	---	---	---	---	0	0
MALAT1	0	broad.mit.edu	37	11	65271551	65271551	+	RNA	SNP	A	A	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:65271551A>G	ENST00000534336.1	+	0	6319					NR_002819.2																						TATTGACCTTATATAGGGAAG	0.368													7	45	---	---	---	---	0	0
ACTN3	89	broad.mit.edu	37	11	66314404	66314404	+	RNA	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:66314404T>A	ENST00000513398.1	+	0	93				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						AGGAGCCCGATCGAGATGATG	0.667													5	13	---	---	---	---	0	0
ART4	420	broad.mit.edu	37	12	14993378	14993378	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:14993378C>A	ENST00000228936.4	-	2	1235		c.e2+1		C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4						arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	p.?(1)		large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						ATAAAGAATACCTTTTAGCAG	0.388													17	109	---	---	---	---	0	0
KMT2D	8085	broad.mit.edu	37	12	49443872	49443872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:49443872C>A	ENST00000301067.7	-	11	3498	c.3499G>T	c.(3499-3501)Gag>Tag	p.E1167*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.E1167*(1)|p.E894*(1)									GGGTAGACCTCCATAGGGGTC	0.617													28	148	---	---	---	---	0	0
MON2	23041	broad.mit.edu	37	12	62946846	62946846	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:62946846G>A	ENST00000393630.3	+	25	3496	c.3105G>A	c.(3103-3105)gtG>gtA	p.V1035V	MON2_ENST00000552738.1_Silent_p.V1011V|MON2_ENST00000546600.1_Silent_p.V1034V|MON2_ENST00000393629.2_Silent_p.V1034V|MON2_ENST00000280379.6_Silent_p.V1035V|MON2_ENST00000393632.2_Silent_p.V1034V|MON2_ENST00000552115.1_Silent_p.V1034V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1035					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	p.V1034V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AACTATGTGTGGATCCCCGTC	0.453													8	326	---	---	---	---	0	0
HELB	92797	broad.mit.edu	37	12	66725338	66725338	+	Silent	SNP	A	A	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:66725338A>G	ENST00000247815.4	+	12	3134	c.3075A>G	c.(3073-3075)gtA>gtG	p.V1025V		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1025					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.V1025V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGATGGAGTAGATACAGATG	0.438													26	133	---	---	---	---	0	0
XPO4	64328	broad.mit.edu	37	13	21417991	21417991	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr13:21417991A>C	ENST00000400602.2	-	5	526	c.491T>G	c.(490-492)tTg>tGg	p.L164W	XPO4_ENST00000255305.6_Missense_Mutation_p.L164W	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	164					protein transport	cytoplasm|nucleus	protein binding	p.L137W(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAATTCACTCAATAGCGCAGT	0.348													32	165	---	---	---	---	0	0
C14orf166B	145497	broad.mit.edu	37	14	77302633	77302633	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr14:77302633A>T	ENST00000393774.3	+	4	598	c.474A>T	c.(472-474)caA>caT	p.Q158H	C14orf166B_ENST00000450042.2_Missense_Mutation_p.Q141H|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	158								p.Q158H(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGATGCTACAAGAGAACTACT	0.552													8	20	---	---	---	---	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102505453	102505453	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr14:102505453G>T	ENST00000360184.4	+	60	11486	c.11322G>T	c.(11320-11322)aaG>aaT	p.K3774N	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3774	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.K3774N(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAACCTGAAGAGAGAGGCTG	0.537													21	130	---	---	---	---	0	0
OR4M2	390538	broad.mit.edu	37	15	22369362	22369362	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr15:22369362C>A	ENST00000332663.2	+	1	885	c.787C>A	c.(787-789)Cca>Aca	p.P263T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P263T(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATGCTCGCCCATTTGACTC	0.418													39	616	---	---	---	---	0	0
GPR139	124274	broad.mit.edu	37	16	20043984	20043984	+	Silent	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:20043984G>T	ENST00000570682.1	-	2	435	c.135C>A	c.(133-135)atC>atA	p.I45I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	45						integral to membrane|plasma membrane		p.I45I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCACTGTCAAGATATTTGCTG	0.478													4	48	---	---	---	---	0	0
GSG1L	146395	broad.mit.edu	37	16	27802719	27802719	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:27802719T>G	ENST00000380898.2	-	8	1106	c.557A>C	c.(556-558)cAg>cCg	p.Q186P	GSG1L_ENST00000395724.3_Missense_Mutation_p.Q272P|GSG1L_ENST00000380897.3_Missense_Mutation_p.Q168P|GSG1L_ENST00000569166.1_Missense_Mutation_p.Q186P|GSG1L_ENST00000447459.2_Missense_Mutation_p.Q323P			Q6UXU4	GSG1L_HUMAN	GSG1-like	323						integral to membrane		p.Q168P(1)|p.Q323P(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GACCCAGCACTGTCGGTTCAG	0.642													14	96	---	---	---	---	0	0
VPS35	55737	broad.mit.edu	37	16	46712857	46712857	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:46712857G>C	ENST00000299138.7	-	6	776	c.718C>G	c.(718-720)Cag>Gag	p.Q240E	VPS35_ENST00000568642.1_5'UTR	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	240					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	p.Q240E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATATAAACCTGTTTGTAACGT	0.308													39	188	---	---	---	---	0	0
GLOD4	51031	broad.mit.edu	37	17	674590	674590	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:674590G>A	ENST00000301329.6	-	5	603	c.518C>T	c.(517-519)gCt>gTt	p.A173V	GLOD4_ENST00000536578.1_Missense_Mutation_p.A164V|GLOD4_ENST00000301328.5_Missense_Mutation_p.A188V	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	188						mitochondrion		p.A173V(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCCCAGCAAAGCCCTTTGCTT	0.368													51	396	---	---	---	---	0	0
DNAH2	146754	broad.mit.edu	37	17	7673934	7673934	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:7673934G>A	ENST00000572933.1	+	26	5618	c.4158G>A	c.(4156-4158)aaG>aaA	p.K1386K	DNAH2_ENST00000389173.2_Silent_p.K1386K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1386	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1386K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACCCTACAAGGATAAGGGCC	0.552													42	182	---	---	---	---	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27934857	27934857	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:27934857G>A	ENST00000394859.3	+	2	366	c.212G>A	c.(211-213)gGc>gAc	p.G71D	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	71								p.G71D(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CTGGCGCACGGCGCAGACGTG	0.701													16	72	---	---	---	---	0	0
TAF15	8148	broad.mit.edu	37	17	34174030	34174030	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:34174030C>G	ENST00000592237.1	+	19	1803	c.1274C>G	c.(1273-1275)gCc>gGc	p.A425G	TAF15_ENST00000311979.3_3'UTR|TAF15_ENST00000588240.1_3'UTR			Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTCCTCGTGGCCTCTTCTTGG	0.438			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								13	88	---	---	---	---	0	0
MED13	9969	broad.mit.edu	37	17	60140573	60140573	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:60140573G>A	ENST00000397786.2	-	2	232	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	52					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P52P(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCTCAAAATGGGGTCTTCTT	0.453													67	287	---	---	---	---	0	0
NPTX1	4884	broad.mit.edu	37	17	78449346	78449346	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:78449346G>T	ENST00000306773.4	-	2	774	c.617C>A	c.(616-618)aCc>aAc	p.T206N	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	206					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	p.T206N(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTGCAGGGAGGTCAGGGCGGT	0.687													6	46	---	---	---	---	0	0
EPB41L3	23136	broad.mit.edu	37	18	5445182	5445182	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr18:5445182T>G	ENST00000341928.2	-	4	783	c.443A>C	c.(442-444)aAa>aCa	p.K148T	EPB41L3_ENST00000540638.2_Missense_Mutation_p.K148T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K148T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K148T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K148T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	148	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.K148T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AAAGTAGTCTTTCTCTAGCAA	0.408													48	278	---	---	---	---	0	0
SETBP1	26040	broad.mit.edu	37	18	42530401	42530401	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr18:42530401G>A	ENST00000282030.5	+	4	1392	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	366						nucleus	DNA binding	p.E366K(2)|p.E312K(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGACAATACAGAAGGGAAAAG	0.453									Schinzel-Giedion syndrome				33	149	---	---	---	---	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3643243	3643243	+	Silent	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:3643243G>A	ENST00000335312.3	-	13	1735	c.1647C>T	c.(1645-1647)taC>taT	p.Y549Y	PIP5K1C_ENST00000539785.1_Silent_p.Y549Y|PIP5K1C_ENST00000537021.1_Silent_p.Y549Y|PIP5K1C_ENST00000589578.1_Silent_p.Y549Y	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	549					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.Y549Y(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCGCCCACCTGTACCGCGGCT	0.657													14	64	---	---	---	---	0	0
BCKDHA	593	broad.mit.edu	37	19	41903833	41903833	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:41903833C>A	ENST00000269980.2	+	1	469	c.101C>A	c.(100-102)gCt>gAt	p.A34D	BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000457836.2_Intron	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	34					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	p.A34D(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CGGGGACTGGCTAGATCTGTG	0.602													6	57	---	---	---	---	0	0
ATP1A3	478	broad.mit.edu	37	19	42492276	42492276	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:42492276T>C	ENST00000545399.1	-	4	361	c.208A>G	c.(208-210)Aaa>Gaa	p.K70E	ATP1A3_ENST00000543770.1_Missense_Mutation_p.K68E|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K27E|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K57E	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	57					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.K57E(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCCTGGGCTTTGCTGTGGGTC	0.627													20	113	---	---	---	---	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48176998	48176998	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:48176998C>A	ENST00000396720.3	+	4	257	c.63C>A	c.(61-63)gaC>gaA	p.D21E	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	21							protein binding	p.D21E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCTCAATGACTTCTTGCATG	0.592													28	132	---	---	---	---	0	0
ZNF616	90317	broad.mit.edu	37	19	52619794	52619794	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:52619794G>C	ENST00000600228.1	-	4	884	c.623C>G	c.(622-624)aCt>aGt	p.T208S	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T208S(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTCTCTGTAGTATGTATCCT	0.393													6	294	---	---	---	---	0	0
ZNF17	7565	broad.mit.edu	37	19	57931923	57931923	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:57931923G>A	ENST00000307658.7	+	4	1332	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	ZNF17_ENST00000601808.1_Missense_Mutation_p.E355K|AC004076.7_ENST00000597410.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E355K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TCACACTGGAGAAAGGCCTTT	0.388													42	187	---	---	---	---	0	0
STK35	140901	broad.mit.edu	37	20	2083973	2083973	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr20:2083973C>T	ENST00000381482.3	+	2	1125	c.854C>T	c.(853-855)tCg>tTg	p.S285L	STK35_ENST00000400064.3_Missense_Mutation_p.S113L|STK35_ENST00000246032.3_Missense_Mutation_p.S152L			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	285	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	p.S285L(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AACAAGAGCTCGCAGCTTTAC	0.647													6	63	---	---	---	---	0	0
ZNF341	84905	broad.mit.edu	37	20	32379198	32379198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr20:32379198G>T	ENST00000375200.1	+	15	2805	c.2440G>T	c.(2440-2442)Gag>Tag	p.E814*	RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Nonsense_Mutation_p.E807*|RP4-553F4.6_ENST00000423074.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E807*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGCGGAAACTGAGCTGGTGGT	0.711													7	69	---	---	---	---	0	0
APOL1	8542	broad.mit.edu	37	22	36661373	36661373	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:36661373G>T	ENST00000319136.4	+	7	806	c.539G>T	c.(538-540)gGg>gTg	p.G180V	APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.G146V|APOL1_ENST00000347595.7_Missense_Mutation_p.G43V|APOL1_ENST00000397279.4_Missense_Mutation_p.G164V|APOL1_ENST00000397278.3_Missense_Mutation_p.G164V|APOL1_ENST00000422706.1_Missense_Mutation_p.G164V	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	164					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	p.G180V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTTGCAGATGGGGTTCAGAAG	0.522													39	215	---	---	---	---	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47432981	47432981	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:47432981C>T	ENST00000337137.4	+	11	1382	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.H359Y|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.H347Y|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.H328Y	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	406	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity	p.H406Y(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGTGCACCGGCACCTGGACCA	0.597													17	110	---	---	---	---	0	0
TSIX	0	broad.mit.edu	37	X	73046744	73046744	+	RNA	SNP	T	T	C			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chrX:73046744T>C	ENST00000604411.1	+	0	34705				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TCTTAAGACTTCTAACTCAAG	0.502													43	70	---	---	---	---	0	0
TSIX	0	broad.mit.edu	37	X	73046745	73046745	+	RNA	SNP	C	C	T			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chrX:73046745C>T	ENST00000604411.1	+	0	34706				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTTAAGACTTCTAACTCAAGC	0.502													46	68	---	---	---	---	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798036	148798036	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chrX:148798036T>A	ENST00000355220.5	+	5	992	c.890T>A	c.(889-891)cTc>cAc	p.L297H	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L268H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	297	MAGE.					cytoplasm|nucleus	protein binding	p.L297H(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCCTCAACCTCTCTTATGAT	0.498													56	78	---	---	---	---	0	0
ARID1A	8289	broad.mit.edu	37	1	27106761	27106761	+	Silent	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:27106761A>G	ENST00000324856.7	+	20	6743	c.6372A>G	c.(6370-6372)aaA>aaG	p.K2124K	ARID1A_ENST00000540690.1_Silent_p.K452K|ARID1A_ENST00000374152.2_Silent_p.K1741K|ARID1A_ENST00000457599.2_Silent_p.K1907K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2124					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.K2124K(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCTCAGCAAACTCAGCATCC	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								37	141	---	---	---	---	0	0
EPB41	2035	broad.mit.edu	37	1	29314300	29314300	+	Silent	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:29314300A>G	ENST00000343067.4	+	2	478	c.351A>G	c.(349-351)gaA>gaG	p.E117E	EPB41_ENST00000347529.3_Silent_p.E117E|EPB41_ENST00000373798.1_Silent_p.E117E|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373797.1_Silent_p.E117E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Silent_p.E117E|EPB41_ENST00000356093.2_Silent_p.E117E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	117					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	p.E117E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAGAGATAGAATTTGGAACCA	0.423													8	286	---	---	---	---	0	0
DMBX1	127343	broad.mit.edu	37	1	46977762	46977762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:46977762C>T	ENST00000371956.4	+	4	760	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	DMBX1_ENST00000360032.3_Missense_Mutation_p.L244F	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	249					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L249F(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGGGGTGGCCTCCTGGGCCC	0.627													59	289	---	---	---	---	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596188	161596188	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:161596188C>A	ENST00000294800.3	-	4	597	c.324G>T	c.(322-324)tgG>tgT	p.W108C	FCGR3B_ENST00000531221.1_Missense_Mutation_p.W144C|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.W108C|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	108					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	p.W108C(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGCAACAGCCAGCCTGAAA	0.567													3	50	---	---	---	---	0	0
NBAS	51594	broad.mit.edu	37	2	15608534	15608534	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:15608534C>T	ENST00000281513.5	-	17	1874	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	NBAS_ENST00000441750.1_Missense_Mutation_p.A617T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	617								p.A617T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCCCTATTGCTAAAAGAGCC	0.413													52	254	---	---	---	---	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710253	31710253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr3:31710253C>T	ENST00000396556.2	-	10	2099	c.1977G>A	c.(1975-1977)tgG>tgA	p.W659*	OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.W595*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	659					lipid transport		lipid binding	p.W659*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AAGTACCATTCCATTCCCCAT	0.433													72	242	---	---	---	---	0	0
ACOX3	8310	broad.mit.edu	37	4	8416610	8416610	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:8416610T>C	ENST00000356406.5	-	4	501	c.424A>G	c.(424-426)Aca>Gca	p.T142A	ACOX3_ENST00000503233.1_Missense_Mutation_p.T142A|ACOX3_ENST00000413009.2_Missense_Mutation_p.T142A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	142					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.T142A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGAATATATGTGAGATGTCTT	0.403													4	109	---	---	---	---	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648713	41648713	+	Missense_Mutation	SNP	C	C	T	rs143733086	by1000genomes	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:41648713C>T	ENST00000313860.7	+	12	1522	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	490					actomyosin structure organization		actin binding|zinc ion binding	p.R875W(1)|p.R490W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAATACCTGCGGCAACAGTC	0.498													10	408	---	---	---	---	0	0
LPHN3	23284	broad.mit.edu	37	4	62813888	62813888	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:62813888G>T	ENST00000512091.2	+	16	3242	c.2495G>T	c.(2494-2496)tGg>tTg	p.W832L	LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514591.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000509896.1_Missense_Mutation_p.W900L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L			Q9HAR2	LPHN3_HUMAN	latrophilin 3		GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.W832L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAGGTTATTGGTCAACACAA	0.403													14	57	---	---	---	---	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721017	70721017	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:70721017A>T	ENST00000226444.3	-	3	384		c.e3+1			NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTTGAACGTTACCATTCATGA	0.318													10	74	---	---	---	---	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192755	123192755	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:123192755G>A	ENST00000264501.4	+	47	8449	c.8076G>A	c.(8074-8076)gtG>gtA	p.V2692V	KIAA1109_ENST00000388738.3_Silent_p.V2692V|KIAA1109_ENST00000455637.1_Silent_p.V2692V			Q2LD37	K1109_HUMAN	KIAA1109	2692					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.V2692V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAATTACAGTGTCAGAACAAA	0.373													5	89	---	---	---	---	0	0
ASB5	140458	broad.mit.edu	37	4	177190130	177190130	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:177190130C>G	ENST00000296525.3	-	1	243	c.130G>C	c.(130-132)Gtg>Ctg	p.V44L		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	44					intracellular signal transduction			p.V44L(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTGCCTTTCACTATGTAGAAA	0.393													7	128	---	---	---	---	0	0
RWDD4	201965	broad.mit.edu	37	4	184567682	184567682	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:184567682C>G	ENST00000326397.5	-	6	762	c.490G>C	c.(490-492)Gga>Cga	p.G164R	RWDD4_ENST00000327570.9_Missense_Mutation_p.G164R|RWDD4_ENST00000512740.1_Missense_Mutation_p.G101R|RWDD4_ENST00000510968.1_Missense_Mutation_p.G69R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	164								p.G164R(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						GGAAGTTCTCCTTTGTGATCT	0.289													8	254	---	---	---	---	0	0
IRX1	79192	broad.mit.edu	37	5	3599606	3599606	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:3599606C>T	ENST00000302006.3	+	2	596	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R182C(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGCCAACGCGCGCCGGCGCCT	0.632													22	124	---	---	---	---	0	0
FAM169A	26049	broad.mit.edu	37	5	74091853	74091853	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:74091853A>G	ENST00000389156.4	-	11	1351		c.e11+1		FAM169A_ENST00000510496.1_Splice_Site|FAM169A_ENST00000380515.3_Splice_Site	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A									p.?(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GTGATCTCATACCTTTTCACC	0.368													5	371	---	---	---	---	0	0
TRIM36	55521	broad.mit.edu	37	5	114466559	114466559	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:114466559C>T	ENST00000513154.1	-	9	1852	c.1526G>A	c.(1525-1527)tGt>tAt	p.C509Y	TRIM36_ENST00000514154.1_Missense_Mutation_p.C366Y|TRIM36_ENST00000282369.3_Missense_Mutation_p.C521Y			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	521	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.C521Y(2)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ATTATAGCCACATTTTTCATC	0.368													25	119	---	---	---	---	0	0
C5orf48	389320	broad.mit.edu	37	5	125967461	125967461	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:125967461C>G	ENST00000357147.3	+	1	48	c.35C>G	c.(34-36)cCt>cGt	p.P12R		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	12								p.P12R(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CCTACTTTGCCTAAACTCACT	0.378													5	170	---	---	---	---	0	0
NSD1	64324	broad.mit.edu	37	5	176636871	176636871	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:176636871G>A	ENST00000439151.2	+	5	1516	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	NSD1_ENST00000361032.4_Missense_Mutation_p.E388K|NSD1_ENST00000347982.4_Missense_Mutation_p.E222K|NSD1_ENST00000354179.4_Missense_Mutation_p.E222K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	491					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.E491K(3)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGATGAGAAGGAAAAGCCTTG	0.408			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			29	115	---	---	---	---	0	0
FRMD1	79981	broad.mit.edu	37	6	168461475	168461475	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:168461475G>T	ENST00000283309.6	-	9	1372	c.1308C>A	c.(1306-1308)agC>agA	p.S436R	FRMD1_ENST00000537786.1_Missense_Mutation_p.S207R|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.S368R	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	436						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGTGGCTGCGGCTGGTCCTGG	0.662													3	36	---	---	---	---	0	0
ZNRF2	223082	broad.mit.edu	37	7	30402036	30402036	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:30402036C>A	ENST00000323037.4	+	4	1766	c.715C>A	c.(715-717)Cac>Aac	p.H239N		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	239						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	p.H239N(1)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TTGCCCTGAGCACCCTTCAGA	0.294													19	106	---	---	---	---	0	0
POT1	25913	broad.mit.edu	37	7	124537227	124537227	+	Translation_Start_Site	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:124537227T>C	ENST00000357628.3	-	5	599	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	1					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.M1V(2)|p.M1L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACCAAAGACATTGATTCTGTA	0.303													22	95	---	---	---	---	0	0
RP1	6101	broad.mit.edu	37	8	55538481	55538481	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr8:55538481C>T	ENST00000220676.1	+	4	2187	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	680					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A680V(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGACAGCAAGCAATAAATTCC	0.323													5	69	---	---	---	---	0	0
PAX5	5079	broad.mit.edu	37	9	36923352	36923352	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:36923352C>A	ENST00000358127.4	-	7	984	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C	PAX5_ENST00000414447.1_Splice_Site_p.G261C|PAX5_ENST00000523145.1_Splice_Site_p.G196C|PAX5_ENST00000522003.1_Splice_Site_p.G196C|PAX5_ENST00000377847.2_Splice_Site_p.G304C|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000446742.1_Splice_Site_p.G238W|PAX5_ENST00000377853.2_Splice_Site_p.G304C|PAX5_ENST00000520281.1_Splice_Site_p.G261C|PAX5_ENST00000377852.2_Splice_Site_p.G304W	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	304		Breakpoint for translocation to form PAX5-ZNF521.			cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(23)|p.G304C(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GTGCCCTCACCTGTCACAATG	0.607			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								40	131	---	---	---	---	0	0
ZFAND5	0	broad.mit.edu	37	9	74970894	74970894	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:74970894A>C	ENST00000237937.3	-	6	1174	c.617T>G	c.(616-618)gTg>gGg	p.V206G	ZFAND5_ENST00000376962.5_Missense_Mutation_p.V206G|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V206G|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.V206G	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	206							DNA binding|zinc ion binding	p.V206G(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						TTTTTCAGCCACAACAACTGG	0.343													19	104	---	---	---	---	0	0
CDH23	64072	broad.mit.edu	37	10	73472477	73472477	+	Silent	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr10:73472477C>A	ENST00000224721.6	+	27	3296	c.3291C>A	c.(3289-3291)gtC>gtA	p.V1097V	C10orf105_ENST00000441508.2_3'UTR|C10orf105_ENST00000398786.2_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1092	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.V1097V(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCGTCACTGTCCTGGATGTGA	0.582													3	39	---	---	---	---	0	0
TM7SF2	7108	broad.mit.edu	37	11	64880871	64880871	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr11:64880871C>T	ENST00000279263.7	+	4	646	c.484C>T	c.(484-486)Cct>Tct	p.P162S	TM7SF2_ENST00000540748.1_Missense_Mutation_p.P46S|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P162S	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	162					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.P162S(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCCCTGGCACCTGGGGGGAA	0.587											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	170	---	---	---	---	0	0
ATF7IP	55729	broad.mit.edu	37	12	14649241	14649241	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:14649241G>C	ENST00000544627.1	+	14	3701	c.3381G>C	c.(3379-3381)caG>caC	p.Q1127H	ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1118H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.Q1119H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1119H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1119					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	p.Q1119H(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CAGGACCTCAGCTCACAGTGC	0.383													19	59	---	---	---	---	0	0
ERBB3	2065	broad.mit.edu	37	12	56481946	56481946	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:56481946C>A	ENST00000267101.3	+	7	1314	c.874C>A	c.(874-876)Cat>Aat	p.H292N	ERBB3_ENST00000415288.2_Splice_Site_p.H233N|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	292					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.H292N(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAGCTGTCCCCGTAAGTGTCT	0.443													3	81	---	---	---	---	0	0
APAF1	317	broad.mit.edu	37	12	99043447	99043447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:99043447C>T	ENST00000357310.1	+	4	1088	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	APAF1_ENST00000552268.1_Missense_Mutation_p.H171Y|APAF1_ENST00000359972.2_Missense_Mutation_p.H160Y|APAF1_ENST00000551964.1_Missense_Mutation_p.H171Y|APAF1_ENST00000333991.1_Missense_Mutation_p.H171Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H171Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H171Y|APAF1_ENST00000550527.1_Missense_Mutation_p.H160Y|APAF1_ENST00000549007.1_Missense_Mutation_p.H171Y	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	171	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	p.H171Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGTTAGAGATCATTCCCTTTT	0.383													5	58	---	---	---	---	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748209	19748209	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:19748209C>T	ENST00000400113.3	-	5	1251	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	383					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.A383T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCGCGATGGCCGTGGTGTTG	0.637													42	85	---	---	---	---	0	0
FAM155A	728215	broad.mit.edu	37	13	107863055	107863055	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:107863055A>G	ENST00000375915.2	-	2	1102	c.964T>C	c.(964-966)Ttt>Ctt	p.F322L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	322						integral to membrane	binding	p.F322L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGCAGTTAAACTGTGTGACT	0.408											OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	102	---	---	---	---	0	0
NIPA2	81614	broad.mit.edu	37	15	23006760	23006760	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:23006760T>A	ENST00000337451.3	-	8	1156	c.544A>T	c.(544-546)Ata>Tta	p.I182L	NIPA2_ENST00000398014.2_Missense_Mutation_p.I182L|NIPA2_ENST00000359727.4_Missense_Mutation_p.I163L|NIPA2_ENST00000398013.3_Missense_Mutation_p.I182L|NIPA2_ENST00000539711.2_Missense_Mutation_p.I163L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	182						early endosome|integral to membrane|plasma membrane		p.I163L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CAGATTGTTATGTACACAAGA	0.502													3	74	---	---	---	---	0	0
ACTC1	70	broad.mit.edu	37	15	35086889	35086889	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:35086889G>A	ENST00000290378.4	-	2	776	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	41					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	p.R41W(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACCTGGTGCCGCGGGCGGCCC	0.672													9	47	---	---	---	---	0	0
IREB2	3658	broad.mit.edu	37	15	78777134	78777134	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:78777134A>G	ENST00000258886.8	+	12	1594	c.1445A>G	c.(1444-1446)gAa>gGa	p.E482G		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	482							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	p.E482G(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ATTGCAGCTGAAAAACAAAAG	0.333													3	139	---	---	---	---	0	0
FANCI	55215	broad.mit.edu	37	15	89811688	89811688	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:89811688A>G	ENST00000310775.7	+	10	900	c.814A>G	c.(814-816)Att>Gtt	p.I272V	FANCI_ENST00000300027.8_Missense_Mutation_p.I272V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	272					cell cycle|DNA repair	nucleoplasm	protein binding	p.I272V(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGGCACCATTATTCTACACAT	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	358	---	---	---	---	0	0
PLCG2	5336	broad.mit.edu	37	16	81944188	81944188	+	Silent	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr16:81944188C>T	ENST00000359376.3	+	18	2011	c.1797C>T	c.(1795-1797)taC>taT	p.Y599Y		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	599	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.Y599Y(3)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCCTGAAATACTACTTGACTG	0.647													6	230	---	---	---	---	0	0
NF1	4763	broad.mit.edu	37	17	29528486	29528486	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:29528486C>T	ENST00000358273.4	+	11	1626	c.1243C>T	c.(1243-1245)Cat>Tat	p.H415Y	NF1_ENST00000356175.3_Missense_Mutation_p.H415Y|NF1_ENST00000431387.4_Missense_Mutation_p.H415Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	415					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.H415Y(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATTCACTCCATCGAATCAT	0.303			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	286	---	---	---	---	0	0
UBTF	7343	broad.mit.edu	37	17	42293127	42293127	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:42293127G>A	ENST00000302904.4	-	5	861	c.369C>T	c.(367-369)ttC>ttT	p.F123F	UBTF_ENST00000393606.3_Silent_p.F123F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Silent_p.F123F|UBTF_ENST00000527034.1_Silent_p.F123F|UBTF_ENST00000529383.1_Silent_p.F123F|UBTF_ENST00000526094.1_Silent_p.F123F|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Silent_p.F123F|UBTF_ENST00000436088.1_Silent_p.F123F			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	123					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	p.F123F(1)|p.F123delF(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTTCTCCATGAAGAAGCGGA	0.493													51	138	---	---	---	---	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267452	66267452	+	Silent	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:66267452T>C	ENST00000327268.4	-	6	1013	c.849A>G	c.(847-849)ctA>ctG	p.L283L	SLC16A6_ENST00000580666.1_Silent_p.L283L|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	283						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.L283L(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGAAGTCTAATAGCGGGGCTT	0.463													3	123	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9047100	9047100	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:9047100G>A	ENST00000397910.4	-	5	34734	c.34531C>T	c.(34531-34533)Cat>Tat	p.H11511Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11513	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H11511Y(1)|p.H7144Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTTACTATGGGAAAACTTG	0.498													53	140	---	---	---	---	0	0
ZNF98	148198	broad.mit.edu	37	19	22574557	22574557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:22574557C>A	ENST00000357774.5	-	4	1601	c.1480G>T	c.(1480-1482)Gaa>Taa	p.E494*		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E494Q(2)|p.E494*(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTGCCACATTCTTCACATTTG	0.403													4	183	---	---	---	---	0	0
CEACAM3	1084	broad.mit.edu	37	19	42312921	42312921	+	Silent	SNP	G	G	A	rs61747599	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:42312921G>A	ENST00000357396.3	+	3	736	c.495G>A	c.(493-495)gcG>gcA	p.A165A	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Silent_p.A165A|CEACAM3_ENST00000221999.4_Silent_p.A165A	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	165						integral to membrane		p.A165A(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TCGGAGTGGCGCTGGTGGCCG	0.607													72	282	---	---	---	---	0	0
LCE1F	353137	broad.mit.edu	37	1	152748962	152748962	+	Missense_Mutation	SNP	C	C	G	rs116630978	by1000genomes	TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:152748962C>G	ENST00000334371.2	+	1	115	c.115C>G	c.(115-117)Cct>Gct	p.P39A		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	39	Pro-rich.				keratinization			p.P39A(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			taagtgccctccTGTCTCTTC	0.677													14	84	---	---	---	---	0	0
LCE1F	353137	broad.mit.edu	37	1	152748963	152748963	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:152748963C>T	ENST00000334371.2	+	1	116	c.116C>T	c.(115-117)cCt>cTt	p.P39L		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	39	Pro-rich.				keratinization			p.P39L(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			aagtgccctccTGTCTCTTCC	0.672													13	84	---	---	---	---	0	0
ASPM	259266	broad.mit.edu	37	1	197073334	197073334	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:197073334T>C	ENST00000367409.4	-	18	5303	c.5047A>G	c.(5047-5049)Ata>Gta	p.I1683V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1683	IQ 5.				mitosis	cytoplasm|nucleus	calmodulin binding	p.I1683V(1)|p.I1683fs*7(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCAATTTTATTGTAGCATTT	0.303													4	125	---	---	---	---	0	0
CCDC142	84865	broad.mit.edu	37	2	74708964	74708964	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:74708964A>T	ENST00000393965.3	-	1	1397	c.1001T>A	c.(1000-1002)cTg>cAg	p.L334Q	CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.L334Q	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	334								p.L334Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TGCCTGACTCAGCTGTTGCGC	0.612													8	111	---	---	---	---	0	0
AFF3	3899	broad.mit.edu	37	2	100199303	100199303	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:100199303G>C	ENST00000409236.2	-	15	2862	c.2750C>G	c.(2749-2751)cCt>cGt	p.P917R	AFF3_ENST00000409579.1_Missense_Mutation_p.P942R|AFF3_ENST00000356421.2_Missense_Mutation_p.P942R|AFF3_ENST00000317233.4_Missense_Mutation_p.P917R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P942R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTCGGCCTTAGGCTTTTTGCT	0.478													8	158	---	---	---	---	0	0
CPS1	1373	broad.mit.edu	37	2	211454904	211454904	+	Silent	SNP	G	G	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:211454904G>A	ENST00000233072.5	+	8	982	c.786G>A	c.(784-786)gcG>gcA	p.A262A	CPS1_ENST00000430249.2_Silent_p.A268A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	262	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.A262A(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTTGATCGCGGGAGGACCGG	0.483													24	534	---	---	---	---	0	0
FOXP1	27086	broad.mit.edu	37	3	71179726	71179726	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr3:71179726C>A	ENST00000491238.1	-	1	262	c.109G>T	c.(109-111)Gaa>Taa	p.E37*	FOXP1_ENST00000318789.4_Intron|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000468577.1_Intron	NM_001244815.1	NP_001231744.1	Q9H334	FOXP1_HUMAN	forkhead box P1	383					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TAGATGGGTTCTGGCTGTTTC	0.468			T	PAX5	ALL								4	77	---	---	---	---	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160260299	160260299	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr4:160260299C>T	ENST00000264431.4	+	13	2263	c.1844C>T	c.(1843-1845)gCt>gTt	p.A615V		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	615	Ras-associating.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.A615V(1)|p.A603V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTTTTTAAGGCTGATCAGCAA	0.423													6	355	---	---	---	---	0	0
SYNE1	23345	broad.mit.edu	37	6	152639275	152639275	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:152639275T>C	ENST00000367255.5	-	86	17114	c.16513A>G	c.(16513-16515)Act>Gct	p.T5505A	SYNE1_ENST00000448038.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5505A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T29A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5505					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.T5505A(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGTTCAGTCAGTTTTCCT	0.448										HNSCC(10;0.0054)			9	188	---	---	---	---	0	0
RIPK2	8767	broad.mit.edu	37	8	90801576	90801576	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:90801576A>G	ENST00000220751.4	+	10	1465	c.1151A>G	c.(1150-1152)aAg>aGg	p.K384R	RIPK2_ENST00000540020.1_Missense_Mutation_p.K247R	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	384					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	p.K384R(2)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TATTTTATGAAGCTGCATCAC	0.398													6	259	---	---	---	---	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40702847	40702847	+	Silent	SNP	C	C	A			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr9:40702847C>A	ENST00000356699.5	+	4	533	c.504C>A	c.(502-504)acC>acA	p.T168T	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.T168T(2)									TGGCCTCCACCCCATCACCAG	0.597													20	445	---	---	---	---	0	0
LPAR1	1902	broad.mit.edu	37	9	113703743	113703743	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr9:113703743C>T	ENST00000374431.3	-	4	1134	c.751G>A	c.(751-753)Gat>Aat	p.D251N	LPAR1_ENST00000538760.1_Missense_Mutation_p.D252N|LPAR1_ENST00000541779.1_Missense_Mutation_p.D252N|LPAR1_ENST00000374430.2_Missense_Mutation_p.D251N|LPAR1_ENST00000358883.4_Missense_Mutation_p.D251N	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	251					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.D251N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATCATGGTATCCCGATTCCGC	0.443													24	98	---	---	---	---	0	0
OR9G4	283189	broad.mit.edu	37	11	56511197	56511197	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:56511197C>T	ENST00000302957.3	-	1	90	c.91G>A	c.(91-93)Ggt>Agt	p.G31S		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G31S(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCTGAGAAACCCAACAAGATG	0.428													4	107	---	---	---	---	0	0
NCAPD3	23310	broad.mit.edu	37	11	134054637	134054637	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:134054637C>T	ENST00000534548.2	-	19	2410	c.2346G>A	c.(2344-2346)aaG>aaA	p.K782K	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	782					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.K782K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCAGCTTACACTTGACAGCAT	0.448													19	96	---	---	---	---	0	0
LMO7	4008	broad.mit.edu	37	13	76374992	76374992	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr13:76374992A>G	ENST00000357063.3	+	8	2051	c.791A>G	c.(790-792)gAt>gGt	p.D264G	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Missense_Mutation_p.D173G|LMO7_ENST00000377534.3_Missense_Mutation_p.D264G|LMO7_ENST00000341547.4_Missense_Mutation_p.D264G|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR			Q8WWI1	LMO7_HUMAN	LIM domain 7	264						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.D264G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGCTCCTCTGATATCACGTTG	0.458													14	328	---	---	---	---	0	0
CPNE6	9362	broad.mit.edu	37	14	24543288	24543288	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr14:24543288C>T	ENST00000397016.2	+	5	688	c.377C>T	c.(376-378)cCa>cTa	p.P126L	CPNE6_ENST00000216775.2_Missense_Mutation_p.P126L|CPNE6_ENST00000537691.1_Missense_Mutation_p.P181L|CPNE6_ENST00000560092.1_3'UTR	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	126					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GTCACTAAGCCATTATTGCTG	0.532													18	90	---	---	---	---	0	0
ALDOC	230	broad.mit.edu	37	17	26901519	26901519	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr17:26901519G>T	ENST00000226253.4	-	6	1092	c.617C>A	c.(616-618)aCa>aAa	p.T206K	ALDOC_ENST00000395319.3_Intron|ALDOC_ENST00000395321.2_Missense_Mutation_p.T206K	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	206					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	p.T206K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CACCTTCTCTGTAACATACTG	0.517													12	314	---	---	---	---	0	0
ZNF181	339318	broad.mit.edu	37	19	35232875	35232875	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:35232875C>G	ENST00000392232.3	+	6	1889	c.1721C>G	c.(1720-1722)tCa>tGa	p.S574*	ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S529*|ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S530*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S466*(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCAAAGGCTCAAATCTTACT	0.388													5	201	---	---	---	---	0	0
PRODH2	58510	broad.mit.edu	37	19	36297714	36297714	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:36297714C>T	ENST00000301175.3	-	7	942	c.925G>A	c.(925-927)Gtg>Atg	p.V309M		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	309					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	p.V309M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGAGCCGCACGTGCTGGGCC	0.682													4	17	---	---	---	---	0	0
ASXL1	171023	broad.mit.edu	37	20	31021261	31021261	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:31021261C>T	ENST00000375687.4	+	12	1684	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A	ASXL1_ENST00000306058.5_Silent_p.A415A	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	420					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.A420A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAACCAGAGCCAGAAGGAATC	0.527			"""F, N, Mis"""		"""MDS, CMML"""								5	169	---	---	---	---	0	0
PHF20	51230	broad.mit.edu	37	20	34458923	34458923	+	Silent	SNP	A	A	G			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:34458923A>G	ENST00000374012.3	+	8	1098	c.969A>G	c.(967-969)ttA>ttG	p.L323L	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	p.L323L(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACAAAGACTTATCGAGGAGAC	0.423													7	149	---	---	---	---	0	0
EYA2	2139	broad.mit.edu	37	20	45797830	45797830	+	Missense_Mutation	SNP	A	A	C	rs143610627		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:45797830A>C	ENST00000327619.5	+	11	1396	c.1022A>C	c.(1021-1023)aAt>aCt	p.N341T	EYA2_ENST00000357410.3_Missense_Mutation_p.N341T|EYA2_ENST00000317304.6_Missense_Mutation_p.N311T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	341					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.N341T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCAGATGACAATGGCCAAGAT	0.428													43	196	---	---	---	---	0	0
MT-ND5	4540	broad.mit.edu	37	M	13326	13326	+	Silent	SNP	T	T	C			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chrM:13326T>C	ENST00000361567.2	+	1	990	c.990T>C	c.(988-990)tgT>tgC	p.C330C				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	330					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CTGCACATCTGTACCCACGCC	0.423													2	8	---	---	---	---	0	0
MT-ND5	4540	broad.mit.edu	37	M	13680	13680	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chrM:13680C>T	ENST00000361567.2	+	1	1344	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	448					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	GAAAATAACCCCACCCTACTA	0.488													5	6	---	---	---	---	0	0
MT-CYB	4519	broad.mit.edu	37	M	14872	14872	+	Silent	SNP	C	C	T			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chrM:14872C>T	ENST00000361789.2	+	1	126	c.126C>T	c.(124-126)atC>atT	p.I42I						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GCCTGCCTGATCCTCCAAATC	0.488													3	13	---	---	---	---	0	0
PABPC4	8761	broad.mit.edu	37	1	40027846	40027846	+	Missense_Mutation	SNP	T	T	C	rs141368472		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:40027846T>C	ENST00000372857.3	-	14	2536	c.1744A>G	c.(1744-1746)Atg>Gtg	p.M582V	PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	582	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.M582V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGAATGCATTGTTTGGATG	0.473													5	141	---	---	---	---	0	0
SZT2	23334	broad.mit.edu	37	1	43897409	43897409	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:43897409A>G	ENST00000562955.1	+	35	4940	c.4940A>G	c.(4939-4941)gAg>gGg	p.E1647G	SZT2_ENST00000372442.1_Missense_Mutation_p.E805G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1704						peroxisome		p.E805G(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTGGAAGATGAGATGGTGGGG	0.567													3	162	---	---	---	---	0	0
RSBN1	54665	broad.mit.edu	37	1	114319949	114319949	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:114319949G>C	ENST00000261441.5	-	4	1604	c.1541C>G	c.(1540-1542)tCt>tGt	p.S514C		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	514						nucleus		p.S514C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGAGGCTAGAAAGTGTACC	0.428													40	188	---	---	---	---	0	0
CFH	3075	broad.mit.edu	37	1	196695918	196695918	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:196695918C>A	ENST00000367429.4	+	14	2324	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	695	Sushi 12.				complement activation, alternative pathway	extracellular space		p.P695H(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAGATATACCTGAACTTGAA	0.353													29	169	---	---	---	---	0	0
ASPM	259266	broad.mit.edu	37	1	197104365	197104365	+	Silent	SNP	G	G	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:197104365G>C	ENST00000367409.4	-	5	2290	c.2034C>G	c.(2032-2034)ccC>ccG	p.P678P	ASPM_ENST00000294732.7_Silent_p.P678P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	678					mitosis	cytoplasm|nucleus	calmodulin binding	p.P678P(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCGGGTGTCTGGGAATATCTA	0.333													12	100	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228462137	228462137	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:228462137C>T	ENST00000570156.2	+	23	6874	c.6800C>T	c.(6799-6801)aCc>aTc	p.T2267I	OBSCN_ENST00000422127.1_Missense_Mutation_p.T1892I|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.T739I|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1892I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1250					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.T2175I(1)|p.T1892I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGCAGCTCACCGTCAGTGGT	0.642													6	32	---	---	---	---	0	0
GNPAT	8443	broad.mit.edu	37	1	231377146	231377146	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:231377146A>G	ENST00000366647.4	+	1	191	c.22A>G	c.(22-24)Aac>Gac	p.N8D	GNPAT_ENST00000366646.3_Missense_Mutation_p.N8D	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	8	Poly-Ser.				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	p.N8D(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CAGTTCATCTAACTCTTATTT	0.617													26	162	---	---	---	---	0	0
USP34	9736	broad.mit.edu	37	2	61415488	61415488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:61415488C>A	ENST00000398571.2	-	80	10466	c.10390G>T	c.(10390-10392)Gaa>Taa	p.E3464*	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3464					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E3464*(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCAGATTCTTCCTCAGCTAGG	0.463													4	157	---	---	---	---	0	0
KYNU	8942	broad.mit.edu	37	2	143790837	143790837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:143790837C>T	ENST00000264170.4	+	12	1246	c.988C>T	c.(988-990)Cga>Tga	p.R330*	KYNU_ENST00000409512.1_Nonsense_Mutation_p.R330*	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	330					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.R330*(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CTGTGGATTCCGAATTTCAAA	0.373													63	486	---	---	---	---	0	0
SP140L	93349	broad.mit.edu	37	2	231222557	231222557	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:231222557G>T	ENST00000243810.6	+	3	145	c.145G>T	c.(145-147)Gtc>Ttc	p.V49F	SP140L_ENST00000396563.4_Missense_Mutation_p.V49F|SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000444636.1_Missense_Mutation_p.V49F|SP140L_ENST00000415673.2_Missense_Mutation_p.V49F|SP140L_ENST00000458341.1_5'UTR			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	49	HSR.					nucleus	DNA binding|metal ion binding	p.V49F(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGAGGGACTTGTCTATGACAC	0.423													14	454	---	---	---	---	0	0
SETD2	29072	broad.mit.edu	37	3	47163433	47163433	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:47163433A>C	ENST00000409792.3	-	3	2735	c.2693T>G	c.(2692-2694)tTg>tGg	p.L898W		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.L395W(1)|p.L898W(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCCGCATTTCAAGAGAGTTAG	0.378			"""N, F, S, Mis"""		clear cell renal carcinoma								8	273	---	---	---	---	0	0
MYH15	22989	broad.mit.edu	37	3	108112995	108112995	+	Silent	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:108112995G>A	ENST00000273353.3	-	37	5258	c.5202C>T	c.(5200-5202)agC>agT	p.S1734S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1734						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.S1734S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGCTGAGGAGGCTTGTGTTCT	0.478													30	150	---	---	---	---	0	0
FAM134B	54463	broad.mit.edu	37	5	16475005	16475005	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr5:16475005T>C	ENST00000306320.9	-	9	1425	c.1339A>G	c.(1339-1341)Aca>Gca	p.T447A	FAM134B_ENST00000399793.2_Missense_Mutation_p.T306A	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	447					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		p.T447A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TCAGTGTCTGTGTCCTCTTCT	0.493													21	133	---	---	---	---	0	0
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29230640	29230640	+	RNA	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:29230640G>T	ENST00000441381.1	+	0	79																		p.A240E(1)									GGTCCCAAATGCTTTTTGTCT	0.418													21	134	---	---	---	---	0	0
VARS2	57176	broad.mit.edu	37	6	30884893	30884893	+	Silent	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:30884893G>T	ENST00000321897.5	+	8	1397	c.765G>T	c.(763-765)gtG>gtT	p.V255V	VARS2_ENST00000416670.2_Silent_p.V255V|VARS2_ENST00000542001.1_Silent_p.V115V|VARS2_ENST00000541562.1_Silent_p.V285V			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	255					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	p.V255V(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCTCCTCAGTGGCTGTGACTG	0.567													4	159	---	---	---	---	0	0
EHMT2	10919	broad.mit.edu	37	6	31850727	31850727	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:31850727G>T	ENST00000395728.3	-	23	3224	c.3225C>A	c.(3223-3225)aaC>aaA	p.N1075K	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.N1018K|EHMT2_ENST00000375530.4_Missense_Mutation_p.N984K|EHMT2_ENST00000375528.4_Missense_Mutation_p.N1041K			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1018	Interaction with histone H3 (By similarity).|SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.N1018K(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGCACGCCTGGTTACACTCGA	0.572													4	76	---	---	---	---	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42824964	42824964	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:42824964C>A	ENST00000314073.5	+	10	2420	c.2244C>A	c.(2242-2244)gaC>gaA	p.D748E	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.D748E					GLTSCR1-like									p.D748E(1)									CTGAAGAAGACTTGAGAAAAG	0.542													20	131	---	---	---	---	0	0
PKHD1	5314	broad.mit.edu	37	6	51889566	51889566	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:51889566G>T	ENST00000371117.3	-	32	5317	c.5042C>A	c.(5041-5043)gCa>gAa	p.A1681E	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1681E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1681	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.A1681E(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTCAATGTTTGCAGCTCCTGA	0.493													4	177	---	---	---	---	0	0
DPY19L2P1	0	broad.mit.edu	37	7	35142675	35142675	+	RNA	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:35142675C>T	ENST00000436258.1	-	0	1811																											ATTATCAAAACGAACTCTGCG	0.338													3	73	---	---	---	---	0	0
PON1	5444	broad.mit.edu	37	7	94940824	94940824	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:94940824A>C	ENST00000222381.3	-	5	667	c.436T>G	c.(436-438)Ttt>Gtt	p.F146V	PON1_ENST00000542556.1_Missense_Mutation_p.F146V	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	146					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.F146V(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCTTCTTGAAATTTAAACAAC	0.353													34	177	---	---	---	---	0	0
PIK3CG	5294	broad.mit.edu	37	7	106524649	106524649	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:106524649T>C	ENST00000359195.3	+	9	3120	c.2810T>C	c.(2809-2811)gTg>gCg	p.V937A	PIK3CG_ENST00000440650.2_Missense_Mutation_p.V937A|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V937A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	937	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.V937A(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGCTACTGTGTGGCAACCTTT	0.368													48	267	---	---	---	---	0	0
RP1	6101	broad.mit.edu	37	8	55537506	55537506	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr8:55537506A>T	ENST00000220676.1	+	4	1212	c.1064A>T	c.(1063-1065)aAa>aTa	p.K355I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	355					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.K355I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTGTCAGTAAAACTGGTCCT	0.353													10	60	---	---	---	---	0	0
LCN12	286256	broad.mit.edu	37	9	139847394	139847394	+	Silent	SNP	G	G	A	rs62580418		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr9:139847394G>A	ENST00000371633.3	+	2	165	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	55					lipid metabolic process	extracellular region	binding|transporter activity	p.P55P(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCTTCAGGCCGGAGCACAGGG	0.637													39	233	---	---	---	---	0	0
LRIT2	340745	broad.mit.edu	37	10	85981795	85981795	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr10:85981795C>A	ENST00000372113.4	-	3	1539	c.1534G>T	c.(1534-1536)Gca>Tca	p.A512S	LRIT2_ENST00000538192.1_Missense_Mutation_p.A522S	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	512						integral to membrane		p.A512S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGCGGGGCTGCAGGGGTGCAG	0.627													4	157	---	---	---	---	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891209	18891209	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:18891209C>G	ENST00000317658.3	+	1	165	c.7C>G	c.(7-9)Ctt>Gtt	p.L3V		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.L3V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438													4	201	---	---	---	---	0	0
OR6C76	390326	broad.mit.edu	37	12	55820712	55820712	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:55820712C>T	ENST00000328314.3	+	1	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I225I(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTCTGAGAATCCCCTCAGCAC	0.363													18	108	---	---	---	---	0	0
C12orf55	144535	broad.mit.edu	37	12	97085090	97085090	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:97085090T>A	ENST00000524981.4	+	44	6287		c.e44+2							chromosome 12 open reading frame 55																		AACCTAATAGTAAGTAATTTG	0.318													4	95	---	---	---	---	0	0
CLTC	1213	broad.mit.edu	37	17	57737855	57737855	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr17:57737855C>T	ENST00000269122.3	+	7	1347	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A358V	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	358	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.A358V(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATAACTTAGCCGGTGCTGAA	0.433			T	"""ALK, TFE3"""	"""ALCL, renal """								6	443	---	---	---	---	0	0
SERPINB5	5268	broad.mit.edu	37	18	61170910	61170910	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr18:61170910C>A	ENST00000382771.4	+	7	1375	c.1083C>A	c.(1081-1083)aaC>aaA	p.N361K		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	361					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TCAGGCACAACAAAACTCGAA	0.443													14	395	---	---	---	---	0	0
TSPAN16	26526	broad.mit.edu	37	19	11417404	11417404	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:11417404A>G	ENST00000316737.1	+	5	725	c.575A>G	c.(574-576)gAt>gGt	p.D192G	TSPAN16_ENST00000592955.1_Missense_Mutation_p.D167G|TSPAN16_ENST00000590327.1_Missense_Mutation_p.D192G|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	192						integral to membrane		p.D192G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GACGGACGCGATGTGTCTCCA	0.473													5	78	---	---	---	---	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596036	41596036	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:41596036G>A	ENST00000330436.3	+	3	428	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	143					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.R143H(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GTGGGCAAGCGCGGCATCGAG	0.697													10	50	---	---	---	---	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939044	50939044	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:50939044G>A	ENST00000357701.5	+	3	172	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	41					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.E41K(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGCCCCACCCGAGGACCAGTC	0.627													8	20	---	---	---	---	0	0
ZNF579	163033	broad.mit.edu	37	19	56090151	56090151	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:56090151C>T	ENST00000325421.4	-	2	883	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L285L(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGTGGCGCGACAGGGACCAGG	0.731													4	38	---	---	---	---	0	0
PEG3	5178	broad.mit.edu	37	19	57329201	57329201	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:57329201G>T	ENST00000326441.9	-	9	1138	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	PEG3_ENST00000598410.1_Missense_Mutation_p.Q135K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q133K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q259K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	259					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q259K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAGCAAGCTGCACTCCTGGT	0.488													5	41	---	---	---	---	0	0
RBL1	5933	broad.mit.edu	37	20	35668590	35668590	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr20:35668590C>T	ENST00000373664.3	-	14	1935	c.1869G>A	c.(1867-1869)aaG>aaA	p.K623K	RBL1_ENST00000344359.3_Silent_p.K623K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	623	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	p.K623K(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTCGAACTTCCTTGACTCTTG	0.418													22	222	---	---	---	---	0	0
DSCAM	1826	broad.mit.edu	37	21	41684282	41684282	+	Silent	SNP	C	C	T			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr21:41684282C>T	ENST00000400454.1	-	9	2265	c.1788G>A	c.(1786-1788)ccG>ccA	p.P596P		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	596	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.P596P(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTATGAAAGGCGGAACTGCAA	0.448													5	26	---	---	---	---	0	0
ARHGAP6	395	broad.mit.edu	37	X	11204545	11204545	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chrX:11204545T>C	ENST00000337414.4	-	5	1956	c.1084A>G	c.(1084-1086)Atg>Gtg	p.M362V	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.M362V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.M187V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.M394V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.M171V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	362					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.M362V(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCACTGACATGGCACCCTGC	0.443													58	123	---	---	---	---	0	0
SNTG2	54221	broad.mit.edu	37	2	1133461	1133461	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:1133461G>A	ENST00000308624.5	+	6	506	c.377G>A	c.(376-378)gGc>gAc	p.G126D	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	126	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.G126D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGGTTAATGGCATACATGTA	0.269													19	157	---	---	---	---	0	0
TNS1	7145	broad.mit.edu	37	2	218679689	218679689	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:218679689A>C	ENST00000171887.4	-	25	4815	c.4363T>G	c.(4363-4365)Ttt>Gtt	p.F1455V	TNS1_ENST00000419504.1_Missense_Mutation_p.F1442V|TNS1_ENST00000430930.1_Missense_Mutation_p.F1434V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1455						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.F1455V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCTGGACAAACTTCACTTTA	0.498													16	34	---	---	---	---	0	0
SMC4	10051	broad.mit.edu	37	3	160141224	160141224	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:160141224G>C	ENST00000357388.3	+	14	2482	c.2031G>C	c.(2029-2031)tgG>tgC	p.W677C	SMC4_ENST00000462787.1_Missense_Mutation_p.W677C|SMC4_ENST00000469762.1_Missense_Mutation_p.W652C|SMC4_ENST00000344722.5_Missense_Mutation_p.W677C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.W677C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	677	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGCTGTATGGGCGAAAAAGA	0.279													4	253	---	---	---	---	0	0
ADAM29	11086	broad.mit.edu	37	4	175898106	175898106	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr4:175898106A>G	ENST00000359240.3	+	5	2100	c.1430A>G	c.(1429-1431)gAt>gGt	p.D477G	ADAM29_ENST00000445694.1_Missense_Mutation_p.D477G|ADAM29_ENST00000514159.1_Missense_Mutation_p.D477G|ADAM29_ENST00000404450.4_Missense_Mutation_p.D477G	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	477	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.D477G(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGTGCCCAGATGACTTTTAT	0.448													40	159	---	---	---	---	0	0
SLC12A7	10723	broad.mit.edu	37	5	1081839	1081839	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:1081839C>A	ENST00000264930.5	-	9	1193	c.1150G>T	c.(1150-1152)Gcg>Tcg	p.A384S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	384					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCGCGTGCGCGTACGTACTC	0.667													3	99	---	---	---	---	0	0
FKBP5	2289	broad.mit.edu	37	6	35588018	35588018	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:35588018G>A	ENST00000542713.1	-	4	441	c.284C>T	c.(283-285)gCt>gTt	p.A95V	FKBP5_ENST00000357266.4_Missense_Mutation_p.A95V|FKBP5_ENST00000536438.1_Missense_Mutation_p.A95V|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.A95V	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	95	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	p.A95V(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTTCATGGTAGCCACCCCAAT	0.423													45	137	---	---	---	---	0	0
DNAH8	1769	broad.mit.edu	37	6	38816530	38816530	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:38816530C>T	ENST00000359357.3	+	35	4755	c.4501C>T	c.(4501-4503)Ctt>Ttt	p.L1501F	DNAH8_ENST00000449981.2_Missense_Mutation_p.L1718F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1501F					dynein, axonemal, heavy chain 8									p.L1501F(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGGGTTTATCTTGAAGCCGT	0.358													16	177	---	---	---	---	0	0
ROS1	6098	broad.mit.edu	37	6	117645561	117645561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:117645561C>A	ENST00000368508.3	-	34	5773	c.5575G>T	c.(5575-5577)Gaa>Taa	p.E1859*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1853*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1859					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAACTTGTTTCTGGTATCCAA	0.294			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	108	---	---	---	---	0	0
AKAP7	9465	broad.mit.edu	37	6	131490307	131490307	+	Silent	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:131490307A>G	ENST00000431975.2	+	5	581	c.483A>G	c.(481-483)ggA>ggG	p.G161G	AKAP7_ENST00000368123.4_Silent_p.G139G|AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000541650.1_Silent_p.G160G	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	p.G139G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TCCTCCAGGGAAAACATTTGA	0.353													61	211	---	---	---	---	0	0
FBXO5	26271	broad.mit.edu	37	6	153292428	153292428	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:153292428T>C	ENST00000367241.3	-	5	1456	c.1076A>G	c.(1075-1077)tAt>tGt	p.Y359C	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000229758.3_Missense_Mutation_p.Y405C	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	405					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	p.Y405C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		CTTCGTACAATAATCAAATCC	0.418													18	148	---	---	---	---	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811063	106811063	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr8:106811063C>T	ENST00000407775.2	+	7	1101	c.851C>T	c.(850-852)tCa>tTa	p.S284L	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S15L|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	284					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S284L(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTCCGGTGTCAGAGGAAAAT	0.527													47	133	---	---	---	---	0	0
PTPRD	5789	broad.mit.edu	37	9	8485768	8485768	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr9:8485768C>G	ENST00000381196.4	-	25	3592	c.3049G>C	c.(3049-3051)Gat>Cat	p.D1017H	PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1017H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1017H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1004H|PTPRD_ENST00000358503.5_Missense_Mutation_p.D995H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1017	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1017H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTACCTTGATCCACAGGCAGT	0.448										TSP Lung(15;0.13)			17	44	---	---	---	---	0	0
FRMPD2	143162	broad.mit.edu	37	10	49457141	49457141	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr10:49457141G>T	ENST00000374201.3	-	3	534	c.232C>A	c.(232-234)Cat>Aat	p.H78N	FRMPD2_ENST00000407470.4_Missense_Mutation_p.H69N|FRMPD2_ENST00000305531.3_Missense_Mutation_p.H76N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	78	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.H78N(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCCTCTATATGAGAAACACGG	0.532													17	45	---	---	---	---	0	0
LTBR	4055	broad.mit.edu	37	12	6495568	6495568	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:6495568A>G	ENST00000228918.4	+	6	951	c.625A>G	c.(625-627)Acc>Gcc	p.T209A	LTBR_ENST00000541102.1_Missense_Mutation_p.T102A|LTBR_ENST00000543190.1_Silent_p.Q69Q|LTBR_ENST00000539925.1_Missense_Mutation_p.T190A	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	209					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	p.T209A(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GTCCGACACAACCTGCAAAAA	0.577													11	29	---	---	---	---	0	0
CLEC1A	51267	broad.mit.edu	37	12	10234003	10234003	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:10234003T>A	ENST00000315330.4	-	3	286	c.224A>T	c.(223-225)tAc>tTc	p.Y75F	CLEC1A_ENST00000457018.2_Missense_Mutation_p.Y42F|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	75					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.Y75F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GAGCTGGTAGTACTGAAAAAC	0.363													30	103	---	---	---	---	0	0
HECTD4	283450	broad.mit.edu	37	12	112717041	112717041	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:112717041A>G	ENST00000550722.1	-	9	1641	c.1246T>C	c.(1246-1248)Tct>Cct	p.S416P	HECTD4_ENST00000430131.2_Missense_Mutation_p.S166P|HECTD4_ENST00000377560.5_Missense_Mutation_p.S416P	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.S416P(1)|p.S166P(1)									CTTTTTAAAGATGACAAACCA	0.398													25	92	---	---	---	---	0	0
PAPLN	89932	broad.mit.edu	37	14	73719443	73719443	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr14:73719443C>T	ENST00000427855.1	+	11	1156	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	PAPLN_ENST00000555445.1_Missense_Mutation_p.R352W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R325W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R352W|PAPLN_ENST00000381166.3_Missense_Mutation_p.R352W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	352	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.R352W(1)|p.R325W(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGCTGACCGGCGTTCCTG	0.642													39	125	---	---	---	---	0	0
IGHG1	0	broad.mit.edu	37	14	106208714	106208714	+	RNA	SNP	A	A	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr14:106208714A>T	ENST00000390548.2	-	0	303																											TTGTCACAAGATTTGGGCTCT	0.582													6	245	---	---	---	---	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917480	65917480	+	Silent	SNP	A	A	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr15:65917480A>G	ENST00000261892.6	+	2	1349	c.1062A>G	c.(1060-1062)gtA>gtG	p.V354V	SLC24A1_ENST00000546330.1_Silent_p.V354V|SLC24A1_ENST00000339868.6_Silent_p.V354V|SLC24A1_ENST00000544319.2_Silent_p.V354V|SLC24A1_ENST00000537259.1_Silent_p.V354V|SLC24A1_ENST00000399033.4_Silent_p.V354V	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	354					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	p.V354V(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGACCAGTGTATCAGCCATCA	0.552													13	35	---	---	---	---	0	0
ITGAL	0	broad.mit.edu	37	16	30495266	30495266	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr16:30495266C>T	ENST00000356798.6	+	8	1021	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	ITGAL_ENST00000358164.5_Missense_Mutation_p.R198C|ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	281	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.R281S(1)|p.R281C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGACATCATCCGCTACATCAT	0.587													31	252	---	---	---	---	0	0
AOC4P	0	broad.mit.edu	37	17	41020769	41020769	+	RNA	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr17:41020769G>A	ENST00000585538.1	+	0	1608					NR_002773.1																						CCACACCACCGGCTACATCAG	0.527													17	27	---	---	---	---	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024179	55024179	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr18:55024179A>T	ENST00000324000.3	+	3	2372	c.338A>T	c.(337-339)aAt>aTt	p.N113I		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	113					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.N113I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTAATAAAAAATTTTTCTTTG	0.318													35	146	---	---	---	---	0	0
ZNF43	7594	broad.mit.edu	37	19	22001955	22001955	+	Silent	SNP	T	T	G			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:22001955T>G	ENST00000594012.1	-	5	568	c.54A>C	c.(52-54)gcA>gcC	p.A18A	ZNF43_ENST00000595461.1_Silent_p.A18A|ZNF43_ENST00000598381.1_Silent_p.A18A|ZNF43_ENST00000354959.4_Silent_p.A24A|ZNF43_ENST00000598288.1_Silent_p.A18A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A24A(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AATTCTGCTGTGCAATGTCCA	0.398													74	236	---	---	---	---	0	0
DGCR14	8220	broad.mit.edu	37	22	19121828	19121828	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr22:19121828G>A	ENST00000252137.6	-	10	1355	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	438					nervous system development	catalytic step 2 spliceosome		p.P438S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTGCTTGTGGGGGTCTGCAGC	0.692													16	35	---	---	---	---	0	0
CSF2RA	0	broad.mit.edu	37	X	1407464	1407464	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:1407464G>T	ENST00000381524.3	+	5	458	c.272G>T	c.(271-273)gGa>gTa	p.G91V	CSF2RA_ENST00000417535.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000355805.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G91V			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	91						extracellular region|integral to plasma membrane	cytokine receptor activity	p.G91V(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGCATGAAGGAGTCACATTT	0.418													146	521	---	---	---	---	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106064139	106064139	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:106064139G>T	ENST00000357242.5	+	3	448	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D92Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	92						intracellular	calcium ion binding|Rab GTPase activator activity	p.D92Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAAGCATTGGGATTGGTTGGA	0.308													48	55	---	---	---	---	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467186	25467186	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:25467186C>T	ENST00000264709.3	-	15	2026	c.1689G>A	c.(1687-1689)gtG>gtA	p.V563V	DNMT3A_ENST00000321117.5_Silent_p.V563V|DNMT3A_ENST00000380746.4_Silent_p.V374V|DNMT3A_ENST00000402667.1_Silent_p.V340V|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	563	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.V563V(1)|p.V374V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGAGGTCCACACACTCCA	0.627			"""Mis, F, N, S"""		AML								8	27	---	---	---	---	0	0
CD8A	925	broad.mit.edu	37	2	87015654	87015654	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:87015654G>A	ENST00000409511.2	-	8	1685	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	CD8A_ENST00000409781.1_Splice_Site_p.R182W|CD8A_ENST00000352580.3_Splice_Site_p.R182W|CD8A_ENST00000283635.3_Splice_Site_p.R219W|CD8A_ENST00000456996.2_Splice_Site_p.R182W|CD8A_ENST00000538832.1_Splice_Site_p.R260W	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	219					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	p.R219W(1)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GAGACTCACCGGGGACATTTG	0.507													5	21	---	---	---	---	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237011	132237011	+	Silent	SNP	G	G	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:132237011G>C	ENST00000321253.6	+	3	464	c.357G>C	c.(355-357)ctG>ctC	p.L119L	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	119					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.L119L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCTAGTCCTGGACCGGATCC	0.498													30	190	---	---	---	---	0	0
GPR78	27201	broad.mit.edu	37	4	8584289	8584289	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr4:8584289C>T	ENST00000382487.4	+	2	1117	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	234					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R234W(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCAGCAGAAGCGGCGCCGCCA	0.637													25	112	---	---	---	---	0	0
ANKH	56172	broad.mit.edu	37	5	14711313	14711313	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:14711313T>C	ENST00000284268.6	-	12	1802	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S	ANKH_ENST00000535119.1_Missense_Mutation_p.N293S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	491					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.N491S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTTATTCATTCTCCTCTCT	0.532													51	176	---	---	---	---	0	0
MRPS30	10884	broad.mit.edu	37	5	44809374	44809374	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:44809374C>G	ENST00000507110.1	+	1	348	c.310C>G	c.(310-312)Cgc>Ggc	p.R104G		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	104					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	p.R104G(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GAATGCCGACCGCTGGTACCA	0.617													5	26	---	---	---	---	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111735029	111735029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:111735029C>T	ENST00000374595.4	-	9	1352	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.G425R|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	425					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	p.G425R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CCTTCTACTCCAGTAAGTTTT	0.398													29	107	---	---	---	---	0	0
AKAP3	10566	broad.mit.edu	37	12	4736294	4736294	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:4736294T>C	ENST00000545990.2	-	5	2298	c.1774A>G	c.(1774-1776)Agt>Ggt	p.S592G	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.S592G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	592					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.S592G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGAAAACACTCCTTAGGTCC	0.468													21	92	---	---	---	---	0	0
MYL6	4637	broad.mit.edu	37	12	56552380	56552380	+	Silent	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:56552380G>A	ENST00000536128.1	+	1	235	c.195G>A	c.(193-195)caG>caA	p.Q65Q	MYL6_ENST00000548400.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000549566.1_Silent_p.Q65Q|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000547408.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTGTGGGTCAGAGTTTGTGGG	0.562													31	142	---	---	---	---	0	0
CLEC18B	497190	broad.mit.edu	37	16	74455141	74455141	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr16:74455141G>A	ENST00000339953.5	-	1	149	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	10						extracellular region	sugar binding	p.R10W(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGATGCCCCCGGCCAGGGGAG	0.677													12	115	---	---	---	---	0	0
ENTHD2	146705	broad.mit.edu	37	17	79207799	79207799	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr17:79207799C>T	ENST00000300714.3	-	5	414	c.357G>A	c.(355-357)aaG>aaA	p.K119K	ENTHD2_ENST00000374769.2_5'UTR	NM_144679.2	NP_653280.1			ENTH domain containing 2									p.K119K(1)									CCGCGCGAACCTTCTGGTACA	0.662													4	39	---	---	---	---	0	0
CSE1L	1434	broad.mit.edu	37	20	47692015	47692015	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr20:47692015C>T	ENST00000262982.2	+	12	1416	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	CSE1L_ENST00000396192.3_Silent_p.I375I|CSE1L_ENST00000542325.1_Silent_p.I214I	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	431					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	p.I431I(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATGCAGCCATCTACCTAGTGA	0.403													4	100	---	---	---	---	0	0
PICK1	9463	broad.mit.edu	37	22	38467745	38467745	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr22:38467745C>T	ENST00000404072.3	+	8	897	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Missense_Mutation_p.H184Y	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	184	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	p.H184Y(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GTCGCAGACTCACCGGGGTAA	0.617													17	106	---	---	---	---	0	0
MT-RNR2	0	broad.mit.edu	37	M	3063	3063	+	RNA	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chrM:3063G>A	ENST00000387347.2	+	0	1393					NR_039705.1																						AAAGTCCTACGTGATCTGAGT	0.448													9	26	---	---	---	---	0	0
MT-ND5	4540	broad.mit.edu	37	M	12773	12773	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chrM:12773G>A	ENST00000361567.2	+	1	437	c.437G>A	c.(436-438)gGc>gAc	p.G146D				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	146			G -> D.		mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CGGCTGAGAGGGCGTAGGAAT	0.418													6	20	---	---	---	---	0	0
NEFM	4741	broad.mit.edu	37	8	24775449	24775449	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:24775449C>A	ENST00000221166.5	+	3	2863	c.2081C>A	c.(2080-2082)gCa>gAa	p.A694E	NEFM_ENST00000437366.2_Missense_Mutation_p.A655E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.A318E|NEFM_ENST00000518131.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	694	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		aagtcaaaagcagaagtgggg	0.448													3	55	---	---	---	---	0	0
FZD3	7976	broad.mit.edu	37	8	28385111	28385111	+	Silent	SNP	A	A	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:28385111A>T	ENST00000240093.3	+	5	1312	c.834A>T	c.(832-834)acA>acT	p.T278T	FZD3_ENST00000537916.1_Silent_p.T278T	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	278					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	p.T278T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CCACAGTGACACAAGGATCTC	0.388													9	206	---	---	---	---	0	0
CLVS1	157807	broad.mit.edu	37	8	62212651	62212651	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:62212651G>T	ENST00000519846.1	+	3	737	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.D89Y			Q8IUQ0	CLVS1_HUMAN	clavesin 1	89					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.D89Y(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCACCAAGCGGATGCCTTTAG	0.483													5	91	---	---	---	---	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814115	106814115	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:106814115C>T	ENST00000407775.2	+	8	2055	c.1805C>T	c.(1804-1806)aCc>aTc	p.T602I	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T333I|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	602					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.T602I(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACTGGCCAAACCTCCATAAAC	0.458													16	179	---	---	---	---	0	0
USP20	0	broad.mit.edu	37	9	132641857	132641857	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr9:132641857C>T	ENST00000315480.4	+	24	2676	c.2518C>T	c.(2518-2520)Ccc>Tcc	p.P840S	USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Missense_Mutation_p.P840S|USP20_ENST00000372429.3_Missense_Mutation_p.P840S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	840	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGCAGAGCCCCCCGGGCCCAT	0.662													5	81	---	---	---	---	0	0
ACBD7	414149	broad.mit.edu	37	10	15120540	15120540	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr10:15120540A>C	ENST00000356189.5	-	4	303	c.256T>G	c.(256-258)Tac>Gac	p.Y86D	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	86	ACB.						fatty-acyl-CoA binding	p.Y86D(1)		endometrium(1)|lung(4)|prostate(1)	6						TAAATTCCGTATTTTTCTATC	0.393													20	212	---	---	---	---	0	0
RAG1	5896	broad.mit.edu	37	11	36597450	36597450	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr11:36597450G>A	ENST00000299440.5	+	2	2708	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	866					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.V866M(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAAAGAGACTGTGGATGCAGT	0.493									Familial Hemophagocytic Lymphohistiocytosis				8	116	---	---	---	---	0	0
ACAP1	9744	broad.mit.edu	37	17	7240074	7240074	+	Silent	SNP	C	C	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:7240074C>T	ENST00000158762.3	+	1	227	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	7	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGCTGGATTTCGAGGAGTGTC	0.612													4	107	---	---	---	---	0	0
TOP2A	7153	broad.mit.edu	37	17	38564345	38564345	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:38564345G>C	ENST00000423485.1	-	12	1532	c.1374C>G	c.(1372-1374)atC>atG	p.I458M		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	458					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CCTCAGTCAGGATAAGCGTAC	0.393													4	85	---	---	---	---	0	0
ZBTB17	7709	broad.mit.edu	37	1	16274882	16274882	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr1:16274882C>A	ENST00000375733.2	-	3	347	c.109G>T	c.(109-111)Gct>Tct	p.A37S	ZBTB17_ENST00000375743.4_Missense_Mutation_p.A37S|ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A37S|ZBTB17_ENST00000479282.1_5'UTR			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	37	BTB.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A37S(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTATGAGCCTTAAAGTGA	0.572													7	106	---	---	---	---	0	0
TCF19	6941	broad.mit.edu	37	6	31127393	31127393	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr6:31127393G>T	ENST00000376257.3	+	2	901	c.147G>T	c.(145-147)gaG>gaT	p.E49D	TCF19_ENST00000376255.4_Missense_Mutation_p.E49D	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	49	FHA.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E49D(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCCAGCAGGAGCCTGGCCTCA	0.662													3	46	---	---	---	---	0	0
ZNF212	7988	broad.mit.edu	37	7	148947631	148947631	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr7:148947631G>A	ENST00000335870.2	+	2	534	c.406G>A	c.(406-408)Gcc>Acc	p.A136T		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	p.A136T(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CAAGGGGGAGGCCCCCAAGGT	0.557													14	212	---	---	---	---	0	0
INS-IGF2	0	broad.mit.edu	37	11	2182081	2182081	+	Silent	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:2182081G>A	ENST00000397270.1	-	2	179	c.121C>T	c.(121-123)Cta>Tta	p.L41L	INS_ENST00000397262.1_Silent_p.L41L|INS_ENST00000250971.3_Silent_p.L41L|INS_ENST00000381330.4_Silent_p.L41L|INS_ENST00000512523.1_Silent_p.L41L	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		41					glucose metabolic process	extracellular region	hormone activity	p.L41L(2)		haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CCGCACACTAGGTAGAGAGCT	0.662													4	91	---	---	---	---	0	0
OR4D5	219875	broad.mit.edu	37	11	123810566	123810566	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:123810566G>T	ENST00000307033.2	+	1	317	c.243G>T	c.(241-243)atG>atT	p.M81I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M81I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CACCTAGGATGCTGGTTGACT	0.483													4	240	---	---	---	---	0	0
EML5	161436	broad.mit.edu	37	14	89083083	89083083	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr14:89083083C>T	ENST00000554922.1	-	42	6031	c.5783G>A	c.(5782-5784)tGt>tAt	p.C1928Y	EML5_ENST00000352093.5_Missense_Mutation_p.C1882Y|EML5_ENST00000380664.5_Missense_Mutation_p.C1920Y	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1920				K -> R (in Ref. 2; AAI50640).		cytoplasm|microtubule		p.C1928Y(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTTTCTGGACATGGGAAGTC	0.348													4	49	---	---	---	---	0	0
MKRN3	7681	broad.mit.edu	37	15	23812105	23812105	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr15:23812105G>T	ENST00000314520.3	+	1	1652	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	MKRN3_ENST00000564592.1_Missense_Mutation_p.K152N|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	392						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.K392N(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGCAATACAAGGAGGCAATGA	0.502													7	144	---	---	---	---	0	0
ABCA3	21	broad.mit.edu	37	16	2354107	2354107	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr16:2354107C>T	ENST00000301732.5	-	12	2030	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D386N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	444					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D444N(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AAGTCGTCGTCCACGTTGACG	0.632													5	240	---	---	---	---	0	0
ZPBP2	124626	broad.mit.edu	37	17	38028691	38028691	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr17:38028691T>C	ENST00000377940.3	+	4	648	c.509T>C	c.(508-510)gTt>gCt	p.V170A	ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000348931.4_Missense_Mutation_p.V192A	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	192					binding of sperm to zona pellucida	extracellular region		p.V192A(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGCCATTCTGTTGAAATTCCA	0.303													3	126	---	---	---	---	0	0
CROCC	9696	broad.mit.edu	37	1	17295800	17295800	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:17295800C>G	ENST00000375541.5	+	32	5335	c.5266C>G	c.(5266-5268)Ctg>Gtg	p.L1756V		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1756					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.L1756V(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGAAGGCTCTGACCGCCTG	0.652													7	12	---	---	---	---	0	0
PCSK9	255738	broad.mit.edu	37	1	55521763	55521763	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:55521763C>T	ENST00000302118.5	+	6	1187	c.897C>T	c.(895-897)gcC>gcT	p.A299A	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.A99A	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	299	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.A299A(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCCTCAACGCCGCCTGCCAGC	0.692													3	11	---	---	---	---	0	0
TRIM45	80263	broad.mit.edu	37	1	117661174	117661174	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:117661174C>A	ENST00000256649.4	-	2	1230	c.704G>T	c.(703-705)gGg>gTg	p.G235V	TRIM45_ENST00000369464.3_Missense_Mutation_p.G235V|TRIM45_ENST00000369461.3_Missense_Mutation_p.G178V	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	235						cytoplasm|nucleus	zinc ion binding	p.G235V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CACAGAGTCCCCATGCTTGTG	0.577													4	148	---	---	---	---	0	0
RGS5	8490	broad.mit.edu	37	1	163122355	163122355	+	Silent	SNP	C	C	T	rs150796534		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:163122355C>T	ENST00000313961.5	-	4	646	c.369G>A	c.(367-369)acG>acA	p.T123T	RGS5_ENST00000527988.1_Silent_p.T15T|RGS5_ENST00000530507.1_Silent_p.T123T|RGS5_ENST00000367903.3_Silent_p.T143T	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	123	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.T123T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TAGGAGCCTCCGTTTGAATGA	0.473													126	555	---	---	---	---	0	0
KYNU	8942	broad.mit.edu	37	2	143712411	143712411	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:143712411G>T	ENST00000264170.4	+	5	664	c.406G>T	c.(406-408)Gct>Tct	p.A136S	KYNU_ENST00000375773.2_Missense_Mutation_p.A136S|KYNU_ENST00000409512.1_Missense_Mutation_p.A136S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	136					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.A136S(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CCTAATGAATGCTTTGACTGT	0.284													4	144	---	---	---	---	0	0
USP37	57695	broad.mit.edu	37	2	219353102	219353102	+	Silent	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:219353102G>T	ENST00000258399.3	-	15	1927	c.1515C>A	c.(1513-1515)ctC>ctA	p.L505L	USP37_ENST00000418019.1_Silent_p.L505L|USP37_ENST00000415516.1_Silent_p.L433L|USP37_ENST00000454775.1_Silent_p.L505L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	505					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.L505L(2)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGTCAATAGAGAGGTCATTAA	0.338													22	151	---	---	---	---	0	0
DZIP3	9666	broad.mit.edu	37	3	108347996	108347996	+	Silent	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:108347996A>G	ENST00000361582.3	+	8	899	c.669A>G	c.(667-669)gaA>gaG	p.E223E	DZIP3_ENST00000463306.1_Silent_p.E223E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	223					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.E223E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATCCTACAGAAGATGAAGATT	0.289													15	168	---	---	---	---	0	0
PACRGL	133015	broad.mit.edu	37	4	20714532	20714532	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:20714532T>A	ENST00000360916.5	+	6	879	c.488T>A	c.(487-489)cTa>cAa	p.L163Q	PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000503585.1_Missense_Mutation_p.L163Q|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000295290.8_Missense_Mutation_p.L163Q|PACRGL_ENST00000502374.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000507634.1_Missense_Mutation_p.L163Q	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	163							binding	p.L163Q(1)		endometrium(2)|lung(7)|prostate(1)	10						ATTCCTGTGCTAAAGGCAGCT	0.333													57	362	---	---	---	---	0	0
PRSS48	345062	broad.mit.edu	37	4	152212529	152212529	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:152212529G>A	ENST00000455694.2	+	5	913	c.911G>A	c.(910-912)gGc>gAc	p.G304D	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.G161D	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	304					proteolysis	extracellular region	serine-type endopeptidase activity	p.G304D(1)|p.G313D(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CACAGAGTAGGCACTGTAGCT	0.502													5	141	---	---	---	---	0	0
MCC	4163	broad.mit.edu	37	5	112418689	112418689	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:112418689G>C	ENST00000302475.4	-	9	1645	c.1082C>G	c.(1081-1083)gCt>gGt	p.A361G	MCC_ENST00000408903.3_Missense_Mutation_p.A551G|MCC_ENST00000515367.2_Missense_Mutation_p.A298G|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	361					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.A361G(1)|p.A551G(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGGTGTTCAGCCACACTGCT	0.418													26	102	---	---	---	---	0	0
PCDHA13	0	broad.mit.edu	37	5	140262046	140262046	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:140262046C>T	ENST00000289272.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R65W	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.R65W(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617													9	265	---	---	---	---	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294582	28294582	+	Silent	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:28294582G>T	ENST00000414429.1	-	8	1485	c.582C>A	c.(580-582)atC>atA	p.I194I	ZSCAN31_ENST00000396838.2_Silent_p.I194I|ZSCAN31_ENST00000446474.1_Silent_p.I35I|ZSCAN31_ENST00000439158.1_Silent_p.I194I|ZSCAN31_ENST00000344279.6_Silent_p.I194I					zinc finger and SCAN domain containing 31									p.I194I(1)									TTTCTTTTAAGATTTCTTGCT	0.363													16	173	---	---	---	---	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294583	28294583	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:28294583A>T	ENST00000414429.1	-	8	1484	c.581T>A	c.(580-582)aTc>aAc	p.I194N	ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I194N|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.I35N|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I194N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I194N					zinc finger and SCAN domain containing 31									p.I194N(1)									TTCTTTTAAGATTTCTTGCTT	0.363													16	172	---	---	---	---	0	0
PRPH2	5961	broad.mit.edu	37	6	42689807	42689807	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:42689807G>T	ENST00000230381.5	-	1	505	c.266C>A	c.(265-267)gCc>gAc	p.A89D		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	89					cell adhesion|visual perception	integral to membrane		p.A89D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GGCATACTTGGCTGGGTCCAG	0.537													17	106	---	---	---	---	0	0
ICK	22858	broad.mit.edu	37	6	52897365	52897365	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:52897365T>G	ENST00000356971.3	-	5	733	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	ICK_ENST00000350082.5_Missense_Mutation_p.M82L	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	82	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.M82L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTTTCCTTCATGTACTCGAAG	0.323													16	68	---	---	---	---	0	0
C7orf63	79846	broad.mit.edu	37	7	89906575	89906575	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:89906575A>G	ENST00000389297.4	+	11	1333	c.1082A>G	c.(1081-1083)tAt>tGt	p.Y361C	C7orf63_ENST00000497910.1_Missense_Mutation_p.Y343C|C7orf63_ENST00000316089.8_Missense_Mutation_p.Y361C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	361							binding	p.Y361C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TCTAATTCCTATGAAGATTTT	0.299													5	90	---	---	---	---	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652283	121652283	+	Silent	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:121652283G>A	ENST00000393386.2	+	12	3594	c.3183G>A	c.(3181-3183)gaG>gaA	p.E1061E	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1061					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.E1061E(3)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTTCAATGAGATGGTTTACC	0.348													32	195	---	---	---	---	0	0
SLC39A14	23516	broad.mit.edu	37	8	22265850	22265850	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:22265850G>A	ENST00000359741.5	+	3	473	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	SLC39A14_ENST00000289952.5_Missense_Mutation_p.A100T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A100T|SLC39A14_ENST00000381237.1_Missense_Mutation_p.A100T	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	100						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	p.A100T(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CCTCTTCACTGCCCACAATTT	0.587													5	146	---	---	---	---	0	0
KAT6A	7994	broad.mit.edu	37	8	41800403	41800403	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:41800403A>C	ENST00000396930.3	-	15	2887	c.2344T>G	c.(2344-2346)Tcc>Gcc	p.S782A	KAT6A_ENST00000265713.2_Missense_Mutation_p.S782A|KAT6A_ENST00000406337.1_Missense_Mutation_p.S782A|KAT6A_ENST00000485568.1_Missense_Mutation_p.S782A	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	782	Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.S782A(2)									ACAGAGTTGGACACTATGACT	0.488													14	213	---	---	---	---	0	0
TJP2	9414	broad.mit.edu	37	9	71841089	71841089	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:71841089A>G	ENST00000377245.4	+	7	1416	c.1208A>G	c.(1207-1209)gAa>gGa	p.E403G	TJP2_ENST00000539225.1_Missense_Mutation_p.E434G|TJP2_ENST00000453658.2_Missense_Mutation_p.E380G|TJP2_ENST00000265384.7_Missense_Mutation_p.E403G|TJP2_ENST00000535702.1_Missense_Mutation_p.E407G|TJP2_ENST00000348208.4_Missense_Mutation_p.E403G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	403					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.E403G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCAGAAATAGAAGGTAAAGGA	0.433													11	53	---	---	---	---	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642273	129642273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:129642273C>T	ENST00000319119.4	+	2	680	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	ZBTB34_ENST00000373452.2_Nonsense_Mutation_p.Q195*	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q199*(1)|p.Q195*(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CAGCCGCTTACAGGAGGAGGG	0.582													16	83	---	---	---	---	0	0
DHX32	55760	broad.mit.edu	37	10	127525312	127525312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr10:127525312C>A	ENST00000284690.3	-	11	2666	c.2176G>T	c.(2176-2178)Gaa>Taa	p.E726*	BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Nonsense_Mutation_p.E350*|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_Nonsense_Mutation_p.E645*	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	726						mitochondrion|nucleus	ATP binding|helicase activity	p.E726*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGCTGTTCCTTATTCATT	0.473													11	90	---	---	---	---	0	0
OR5R1	219479	broad.mit.edu	37	11	56185673	56185673	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:56185673G>T	ENST00000312253.1	-	1	35	c.36C>A	c.(34-36)ttC>ttA	p.F12L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F12L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CTTTCAGAATGAATACAGTGA	0.398													6	235	---	---	---	---	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235886	63235886	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:63235886A>T	ENST00000540857.1	-	4	529	c.397T>A	c.(397-399)Tat>Aat	p.Y133N	HRASLS5_ENST00000301790.4_Missense_Mutation_p.Y143N|HRASLS5_ENST00000539221.1_Missense_Mutation_p.Y143N	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	143								p.Y143N(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CAGTGCTCATAGCCAATTCGA	0.418													7	180	---	---	---	---	0	0
MMP12	4321	broad.mit.edu	37	11	102742648	102742648	+	RNA	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:102742648C>A	ENST00000532855.1	-	0	481							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D129Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TAGTCAACATCCTCACGGTTC	0.393													10	44	---	---	---	---	0	0
HINFP	25988	broad.mit.edu	37	11	119002676	119002676	+	Silent	SNP	C	C	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:119002676C>G	ENST00000350777.2	+	5	723	c.660C>G	c.(658-660)cgC>cgG	p.R220R	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Silent_p.R220R	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	220					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	p.R220R(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACATCCGTCGCCAGACCTCAT	0.557													21	120	---	---	---	---	0	0
MYH6	4624	broad.mit.edu	37	14	23862693	23862693	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:23862693T>C	ENST00000405093.3	-	23	3033	c.2963A>G	c.(2962-2964)gAt>gGt	p.D988G	MYH6_ENST00000356287.3_Missense_Mutation_p.D988G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	988					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.D988G(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATTTCATCCAGCCCAGC	0.527													61	253	---	---	---	---	0	0
C14orf178	283579	broad.mit.edu	37	14	78227450	78227450	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:78227450A>G	ENST00000355883.3	+	1	274	c.65A>G	c.(64-66)cAa>cGa	p.Q22R	C14orf178_ENST00000439131.2_5'UTR|SNW1_ENST00000261531.7_Intron|C14orf178_ENST00000556047.1_Missense_Mutation_p.Q22R|C14orf178_ENST00000557011.1_Missense_Mutation_p.Q22R|SNW1_ENST00000555761.1_Intron|SNW1_ENST00000554775.1_Intron	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178	22								p.Q22R(1)|p.?(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCCAATCAACAACCCACCTGG	0.587													19	98	---	---	---	---	0	0
CKB	1152	broad.mit.edu	37	14	103986922	103986922	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:103986922C>A	ENST00000348956.2	-	6	1018	c.661G>T	c.(661-663)Gac>Tac	p.D221Y		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	221	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	p.D221Y(1)		lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GTCTTATTGTCATTGTGCCTG	0.597													3	33	---	---	---	---	0	0
JAG2	3714	broad.mit.edu	37	14	105622204	105622204	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:105622204C>T	ENST00000331782.3	-	4	1001	c.598G>A	c.(598-600)Gag>Aag	p.E200K	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.E200K	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	200	DSL.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	p.E200K(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TAGTAGTTCTCGTCGCAGCGC	0.627													6	23	---	---	---	---	0	0
TMOD2	29767	broad.mit.edu	37	15	52058730	52058730	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:52058730A>G	ENST00000249700.4	+	2	313	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.Q31R	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	31					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	p.Q31R(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GAACTGAAACAGTTGGAAAAT	0.418													29	132	---	---	---	---	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081026	53081026	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:53081026C>A	ENST00000305901.5	-	1	1183	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	352					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.K352N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CCTGCAGCCACTTCCACATCC	0.657													20	62	---	---	---	---	0	0
CLDN9	9080	broad.mit.edu	37	16	3063524	3063524	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr16:3063524G>C	ENST00000445369.2	+	1	1068	c.161G>C	c.(160-162)tGc>tCc	p.C54S		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	54					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.C54S(1)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TGGATGTCCTGCGTGGTGCAG	0.657													24	130	---	---	---	---	0	0
IL4R	3566	broad.mit.edu	37	16	27373986	27373986	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr16:27373986G>T	ENST00000395762.2	+	11	1572	c.1313G>T	c.(1312-1314)aGt>aTt	p.S438I	IL4R_ENST00000543915.2_Missense_Mutation_p.S438I|IL4R_ENST00000380922.3_Missense_Mutation_p.S423I|IL4R_ENST00000170630.2_Missense_Mutation_p.S438I	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	438	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.S438I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTTCGGGAAGTACGAGTGCT	0.612													35	141	---	---	---	---	0	0
PLCB4	5332	broad.mit.edu	37	20	9364889	9364889	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:9364889G>A	ENST00000378501.2	+	11	910	c.895G>A	c.(895-897)Gat>Aat	p.D299N	PLCB4_ENST00000334005.3_Missense_Mutation_p.D299N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D299N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D299N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D299N|PLCB4_ENST00000278655.4_Missense_Mutation_p.D299N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	299					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.D299N(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCTGATGTCAGATGAAAACGC	0.408													12	226	---	---	---	---	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45523339	45523339	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr21:45523339A>G	ENST00000291574.4	+	23	3882	c.3707A>G	c.(3706-3708)aAc>aGc	p.N1236S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1236					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.N1236S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGTCTTCAACTCCAGCTCG	0.622													7	39	---	---	---	---	0	0
GNB1L	0	broad.mit.edu	37	22	19808139	19808139	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr22:19808139T>G	ENST00000329517.6	-	4	472	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	GNB1L_ENST00000405009.1_Missense_Mutation_p.Q79P|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.Q79P	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	79					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		p.Q79P(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CTGGCGCCCCTGGGGCAGCGT	0.657													5	68	---	---	---	---	0	0
TEX13B	0	broad.mit.edu	37	X	107225170	107225170	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:107225170A>G	ENST00000302917.1	-	2	280	c.188T>C	c.(187-189)gTc>gCc	p.V63A		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	63								p.V63A(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GGCCTCTTTGACCTCGCTGGG	0.597													16	171	---	---	---	---	0	0
GPR50	9248	broad.mit.edu	37	X	150348254	150348254	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:150348254G>A	ENST00000218316.3	+	2	268	c.199G>A	c.(199-201)Gtg>Atg	p.V67M		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	67					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.V67M(3)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAACATCTTCGTGGTCAGTCT	0.483													16	437	---	---	---	---	0	0
MT-ATP6	4508	broad.mit.edu	37	M	8802	8802	+	Silent	SNP	T	T	C			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrM:8802T>C	ENST00000361899.2	+	1	276	c.276T>C	c.(274-276)ttT>ttC	p.F92F						mitochondrially encoded ATP synthase 6											breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						CCTCACTCATTTACACCAACC	0.438													5	62	---	---	---	---	0	0
MT-ND5	4540	broad.mit.edu	37	M	13464	13464	+	Silent	SNP	C	C	T			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrM:13464C>T	ENST00000361567.2	+	1	1128	c.1128C>T	c.(1126-1128)ggC>ggT	p.G376G				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	376					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CTCACCATTGGCAGCCTAGCA	0.448													5	75	---	---	---	---	0	0
ASH1L	55870	broad.mit.edu	37	1	155451980	155451980	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr1:155451980A>T	ENST00000368346.3	-	3	1320	c.681T>A	c.(679-681)tgT>tgA	p.C227*	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Nonsense_Mutation_p.C227*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	227					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.C227*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGGAAGGAGGACAGGTAGCAA	0.453													67	181	---	---	---	---	0	0
NUP133	55746	broad.mit.edu	37	1	229635527	229635527	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr1:229635527G>C	ENST00000261396.3	-	5	643	c.552C>G	c.(550-552)atC>atG	p.I184M	NUP133_ENST00000537506.1_Missense_Mutation_p.I168M|NUP133_ENST00000366678.3_Missense_Mutation_p.I184M	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	184					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.I184M(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GCCAATAGCGGATAGATCCTT	0.453													15	88	---	---	---	---	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10918726	10918726	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:10918726A>C	ENST00000381661.3	+	11	963	c.854A>C	c.(853-855)aAc>aCc	p.N285T	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.N331T	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	331					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.N285T(1)|p.N331T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTCAAGGTGAACTTCAGTGAA	0.602													21	100	---	---	---	---	0	0
PTH2R	5746	broad.mit.edu	37	2	209358096	209358096	+	Silent	SNP	G	G	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:209358096G>T	ENST00000272847.2	+	13	1578	c.1365G>T	c.(1363-1365)gtG>gtT	p.V455V	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	455						integral to plasma membrane	parathyroid hormone receptor activity	p.V455V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCACCACCGTGACGCACAGCA	0.612													3	20	---	---	---	---	0	0
ASIC4	55515	broad.mit.edu	37	2	220396564	220396564	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:220396564G>A	ENST00000358078.4	+	2	1062	c.1048G>A	c.(1048-1050)Ggc>Agc	p.G350S	ASIC4_ENST00000347842.3_Missense_Mutation_p.G350S|ASIC4_ENST00000473709.1_3'UTR			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	350						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.G350S(1)									CATGGGCAGTGGCCTGGAGAT	0.632													51	160	---	---	---	---	0	0
DOCK10	55619	broad.mit.edu	37	2	225717687	225717687	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:225717687G>T	ENST00000409592.3	-	17	2136	c.2023C>A	c.(2023-2025)Cac>Aac	p.H675N	DOCK10_ENST00000258390.7_Missense_Mutation_p.H681N			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	681	DHR-1.						GTP binding	p.H681N(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TACTTGAGGTGTTTGGGGTAA	0.338													29	124	---	---	---	---	0	0
DUSP7	1849	broad.mit.edu	37	3	52088081	52088081	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:52088081T>C	ENST00000495880.1	-	2	1010	c.827A>G	c.(826-828)aAt>aGt	p.N276S	DUSP7_ENST00000296483.6_Missense_Mutation_p.N225S			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	276					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	p.N225S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGTGTGACATTGAGGATATA	0.582													47	169	---	---	---	---	0	0
ZBBX	79740	broad.mit.edu	37	3	167068219	167068219	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:167068219T>C	ENST00000392766.2	-	9	857	c.517A>G	c.(517-519)Act>Gct	p.T173A	ZBBX_ENST00000392764.1_Missense_Mutation_p.T144A|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.T173A|ZBBX_ENST00000392767.2_Missense_Mutation_p.T173A|ZBBX_ENST00000307529.5_Missense_Mutation_p.T173A	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	173						intracellular	zinc ion binding	p.T173A(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGCAAAAGAGTTGTTCTGTGG	0.328													75	310	---	---	---	---	0	0
ACTRT3	84517	broad.mit.edu	37	3	169486066	169486066	+	Silent	SNP	A	A	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:169486066A>G	ENST00000330368.2	-	2	647	c.273T>C	c.(271-273)taT>taC	p.Y91Y		NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN	actin-related protein T3	91						cytoplasm|cytoskeleton		p.Y91Y(1)									GCTTTAGGTTATAGTCATAGA	0.473													43	64	---	---	---	---	0	0
HSPA1B	3304	broad.mit.edu	37	6	31797488	31797488	+	Silent	SNP	C	C	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:31797488C>G	ENST00000375650.3	+	1	1977	c.1761C>G	c.(1759-1761)gcC>gcG	p.A587A	HSPA1B_ENST00000545241.1_Silent_p.A496A	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	587					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	p.A587A(1)		breast(1)|large_intestine(1)|prostate(1)	3						ACACCTTGGCCGAGAAGGACG	0.597													9	48	---	---	---	---	0	0
PI16	221476	broad.mit.edu	37	6	36927000	36927000	+	Missense_Mutation	SNP	G	G	A	rs139393851		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:36927000G>A	ENST00000373674.3	+	2	579	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	84						extracellular region|integral to membrane	peptidase inhibitor activity	p.R84H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGCGCGGGCGCCGCGGCGAG	0.667													9	14	---	---	---	---	0	0
RAC1	5879	broad.mit.edu	37	7	6431629	6431629	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr7:6431629A>G	ENST00000348035.4	+	3	395	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	RAC1_ENST00000356142.4_Missense_Mutation_p.Q61R|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	61					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.Q61R(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	ACAGCTGGACAAGAAGATTAT	0.403													12	226	---	---	---	---	0	0
BRAF	673	broad.mit.edu	37	7	140501299	140501299	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr7:140501299C>A	ENST00000288602.6	-	6	833	c.773G>T	c.(772-774)gGt>gTt	p.G258V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	258					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G258V(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ACAGCGGAAACCCTGGAAAAG	0.368		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				11	75	---	---	---	---	0	0
MLLT3	4300	broad.mit.edu	37	9	20620724	20620724	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr9:20620724T>C	ENST00000380338.4	-	2	408	c.122A>G	c.(121-123)cAc>cGc	p.H41R	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.H38R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	41	YEATS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.H41R(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TATGTTACTGTGCTCCGGACC	0.547			T	MLL	ALL								47	216	---	---	---	---	0	0
RFK	55312	broad.mit.edu	37	9	79002418	79002418	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr9:79002418T>A	ENST00000376736.1	-	4	698	c.365A>T	c.(364-366)gAt>gTt	p.D122V		NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	122					riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity	p.D129V(1)		pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	TTCTTCAATATCACCTTGAAT	0.333													15	267	---	---	---	---	0	0
XRRA1	143570	broad.mit.edu	37	11	74618288	74618288	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:74618288C>G	ENST00000340360.6	-	9	994	c.663G>C	c.(661-663)aaG>aaC	p.K221N	RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.K221N	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	221					response to X-ray	cytoplasm|nucleus		p.K221N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGATGTACCTCTTGCTTGTCA	0.542													20	105	---	---	---	---	0	0
HEPHL1	341208	broad.mit.edu	37	11	93803647	93803647	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:93803647T>C	ENST00000315765.9	+	6	1179	c.1171T>C	c.(1171-1173)Tgg>Cgg	p.W391R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	391	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.W392R(1)|p.W391R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAAAATTCTTTGGGATTATGC	0.438													15	33	---	---	---	---	0	0
TIMELESS	8914	broad.mit.edu	37	12	56817470	56817470	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr12:56817470C>T	ENST00000229201.4	-	17	2139	c.1985G>A	c.(1984-1986)cGt>cAt	p.R662H	TIMELESS_ENST00000553532.1_Missense_Mutation_p.R663H|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	663	Glu-rich.				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.R663H(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ctcTGCCCCACGTTCCTCTGG	0.502													13	40	---	---	---	---	0	0
FAM63B	54629	broad.mit.edu	37	15	59064095	59064095	+	Silent	SNP	T	T	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr15:59064095T>G	ENST00000559228.1	+	1	583	c.501T>G	c.(499-501)ccT>ccG	p.P167P	FAM63B_ENST00000450403.2_Silent_p.P167P			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	167								p.P167P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CGAGCCCTCCTGGGGAATCTC	0.632													4	32	---	---	---	---	0	0
C16orf54	283897	broad.mit.edu	37	16	29755663	29755663	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:29755663G>A	ENST00000329410.3	-	2	705	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W		NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	204						integral to membrane		p.R204W(1)		breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AAGGTGACCCGTGGCTGGAGG	0.667													6	31	---	---	---	---	0	0
ITGAD	3681	broad.mit.edu	37	16	31427932	31427932	+	Missense_Mutation	SNP	G	G	A	rs143518464		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:31427932G>A	ENST00000389202.2	+	20	2513	c.2464G>A	c.(2464-2466)Gca>Aca	p.A822T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	822					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.A822T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTACTATCCAGCAGGGCTGTC	0.622													41	132	---	---	---	---	0	0
CNOT1	23019	broad.mit.edu	37	16	58621140	58621140	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:58621140A>C	ENST00000317147.5	-	6	730	c.398T>G	c.(397-399)cTg>cGg	p.L133R	CNOT1_ENST00000441024.2_Missense_Mutation_p.L133R|CNOT1_ENST00000569240.1_Missense_Mutation_p.L133R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	133					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.L133R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAATTCAACAGGGCAAGGCC	0.338													29	135	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696688	47696688	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr17:47696688T>G	ENST00000393331.3	-	6	730	c.260A>C	c.(259-261)tAc>tCc	p.Y87S	SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)			44	199	---	---	---	---	0	0
DNMT1	1786	broad.mit.edu	37	19	10265299	10265299	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:10265299C>T	ENST00000340748.4	-	20	1982	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	DNMT1_ENST00000359526.4_Missense_Mutation_p.D599N|DNMT1_ENST00000540357.1_Missense_Mutation_p.D583N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	583	Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	p.D583N(2)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTGATCAGGTCCCGCATGCAG	0.622													25	98	---	---	---	---	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351368	41351368	+	Missense_Mutation	SNP	A	A	G	rs146206761	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:41351368A>G	ENST00000301141.5	-	7	1012	c.992T>C	c.(991-993)aTt>aCt	p.I331T	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	331					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	p.I331T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CACTCTGTCAATCTCCTCATG	0.537													5	173	---	---	---	---	0	0
LIG1	3978	broad.mit.edu	37	19	48654539	48654539	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:48654539C>T	ENST00000263274.7	-	7	943	c.524G>A	c.(523-525)gGa>gAa	p.G175E	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.G144E|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	175					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.G175E(2)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCGTCTTCTCCTTCCTTCTC	0.567								Nucleotide excision repair (NER)					66	248	---	---	---	---	0	0
ADRA1D	146	broad.mit.edu	37	20	4202306	4202306	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr20:4202306C>T	ENST00000379453.4	-	2	1699	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	528				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	p.R528H(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TGCCTCTGCGCGCTGCGCGCC	0.716													18	62	---	---	---	---	0	0
HCFC1	3054	broad.mit.edu	37	X	153224170	153224170	+	Silent	SNP	A	A	C			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chrX:153224170A>C	ENST00000310441.7	-	10	2619	c.1653T>G	c.(1651-1653)gcT>gcG	p.A551A	HCFC1_ENST00000369984.4_Silent_p.A551A|HCFC1_ENST00000354233.3_Silent_p.A482A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	551					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.A551A(1)|p.A452A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGGCCGCAGCGGCCAGTG	0.657													14	16	---	---	---	---	0	0
SGIP1	84251	broad.mit.edu	37	1	67137639	67137639	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr1:67137639C>A	ENST00000371037.4	+	11	598	c.521C>A	c.(520-522)gCa>gAa	p.A174E	SGIP1_ENST00000468286.1_3'UTR|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.A178E|SGIP1_ENST00000371039.1_Missense_Mutation_p.A142E|SGIP1_ENST00000371035.3_Missense_Mutation_p.A131E|SGIP1_ENST00000371036.3_Missense_Mutation_p.A141E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	174					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.A142E(1)|p.A174E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GAAGAAGTGGCAAGACCCAGG	0.378													3	77	---	---	---	---	0	0
PCDHGA2	0	broad.mit.edu	37	5	140720213	140720213	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr5:140720213G>A	ENST00000394576.2	+	1	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.A559T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCCGAGAT	0.622													14	278	---	---	---	---	0	0
ANKMY2	57037	broad.mit.edu	37	7	16676046	16676046	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr7:16676046G>C	ENST00000306999.2	-	2	345	c.102C>G	c.(100-102)agC>agG	p.S34R	ANKMY2_ENST00000421746.1_5'UTR	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	34						cilium	zinc ion binding	p.S34R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAACATTCTTGCTGGATAATA	0.289													3	65	---	---	---	---	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749969	8749969	+	Silent	SNP	C	C	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr8:8749969C>A	ENST00000276282.6	-	1	1186	c.600G>T	c.(598-600)ctG>ctT	p.L200L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	200								p.L200L(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCAGCTGCAGCAGCTGCCGGG	0.672													3	22	---	---	---	---	0	0
DHTKD1	55526	broad.mit.edu	37	10	12143062	12143062	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr10:12143062G>A	ENST00000263035.4	+	10	1840	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	593					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.G593D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGTCTAAGTGGCCAAGATGTT	0.408													16	349	---	---	---	---	0	0
TTC17	55761	broad.mit.edu	37	11	43513626	43513626	+	Silent	SNP	C	C	T			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr11:43513626C>T	ENST00000039989.4	+	23	3221	c.3207C>T	c.(3205-3207)gaC>gaT	p.D1069D		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1069							binding	p.D1069D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTGGAATGACGCCGTCATAG	0.517													14	393	---	---	---	---	0	0
HCFC2	29915	broad.mit.edu	37	12	104487295	104487295	+	Silent	SNP	T	T	G	rs138874026		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr12:104487295T>G	ENST00000229330.4	+	10	1520	c.1416T>G	c.(1414-1416)gcT>gcG	p.A472A	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	472					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.A472A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CATCAAATGCTTCTAATCATA	0.333													8	197	---	---	---	---	0	0
DHX38	9785	broad.mit.edu	37	16	72130068	72130068	+	Silent	SNP	C	C	T			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr16:72130068C>T	ENST00000268482.3	+	2	521	c.12C>T	c.(10-12)acC>acT	p.T4T	DHX38_ENST00000536867.1_Silent_p.T4T	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	4					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.T4T(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGGGGGACACCAGTGAGGATG	0.498													5	149	---	---	---	---	0	0
SGSM2	9905	broad.mit.edu	37	17	2267466	2267466	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr17:2267466G>T	ENST00000268989.3	+	8	1098	c.921G>T	c.(919-921)gaG>gaT	p.E307D	SGSM2_ENST00000426855.2_Missense_Mutation_p.E307D|SGSM2_ENST00000574563.1_Missense_Mutation_p.E307D	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	307						intracellular	Rab GTPase activator activity	p.E307D(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GGGACTCCGAGCTGGAAAAGA	0.617													3	83	---	---	---	---	0	0
PBX1	5087	broad.mit.edu	37	1	164789324	164789324	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:164789324T>G	ENST00000420696.2	+	7	1201	c.1013T>G	c.(1012-1014)tTt>tGt	p.F338C	PBX1_ENST00000560641.1_Missense_Mutation_p.F233C|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.F233C|PBX1_ENST00000540236.1_Missense_Mutation_p.F338C|PBX1_ENST00000367897.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	338					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	p.F338C(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TCCAGTTCTTTTAACATGTCA	0.473			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								20	131	---	---	---	---	0	0
FER1L5	90342	broad.mit.edu	37	2	97369281	97369281	+	RNA	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:97369281G>A	ENST00000457909.1	+	0	5216							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane		p.E1941K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GATGAGCCTGGAGATTCTGTC	0.577													7	57	---	---	---	---	0	0
SCN7A	6332	broad.mit.edu	37	2	167304172	167304172	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:167304172G>T	ENST00000409855.1	-	11	1463	c.1337C>A	c.(1336-1338)aCa>aAa	p.T446K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	446					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T446K(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGATGTGTCTGTGGAAATTGG	0.378													45	149	---	---	---	---	0	0
NBEAL2	23218	broad.mit.edu	37	3	47036899	47036899	+	Silent	SNP	A	A	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:47036899A>G	ENST00000450053.3	+	13	1853	c.1674A>G	c.(1672-1674)gcA>gcG	p.A558A	NBEAL2_ENST00000292309.5_Silent_p.A558A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	558							binding	p.A119A(1)|p.A558A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCGACACGCAGGTGCTGTCA	0.632													17	35	---	---	---	---	0	0
DOCK3	1795	broad.mit.edu	37	3	51347719	51347719	+	Silent	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:51347719C>T	ENST00000266037.9	+	28	3002	c.2979C>T	c.(2977-2979)ttC>ttT	p.F993F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	993						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.F993F(2)|p.F982F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAGTGTCTTCCCTCGGGACT	0.463													8	12	---	---	---	---	0	0
MME	4311	broad.mit.edu	37	3	154860109	154860109	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:154860109C>A	ENST00000460393.1	+	12	1298	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	MME_ENST00000493237.1_Missense_Mutation_p.A393D|MME_ENST00000360490.2_Missense_Mutation_p.A393D|MME_ENST00000492661.1_Missense_Mutation_p.A393D|MME_ENST00000462745.1_Missense_Mutation_p.A393D	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	393					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A393D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TCCAGAAATGCTTTCCGCAAG	0.378													10	166	---	---	---	---	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930258	31930258	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:31930258G>C	ENST00000375394.2	+	11	1220	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	SKIV2L_ENST00000544581.1_Missense_Mutation_p.K176N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	369	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.K369N(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCAACCAGAAGTTCCGGGACT	0.587													48	93	---	---	---	---	0	0
PKHD1	5314	broad.mit.edu	37	6	51524058	51524058	+	Silent	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:51524058G>A	ENST00000371117.3	-	61	11141	c.10866C>T	c.(10864-10866)tgC>tgT	p.C3622C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3622			C -> Y (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.C3622C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCACAGTAGGGCAATTGCGCT	0.458													62	151	---	---	---	---	0	0
SP4	6671	broad.mit.edu	37	7	21469876	21469876	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:21469876C>G	ENST00000222584.3	+	3	1311	c.1093C>G	c.(1093-1095)Cct>Gct	p.P365A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	365					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.P365A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTCAAACACCTGCTGCTAC	0.468													8	144	---	---	---	---	0	0
GLI3	2737	broad.mit.edu	37	7	42262830	42262830	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:42262830G>C	ENST00000395925.3	-	2	107	c.23C>G	c.(22-24)tCc>tGc	p.S8C	GLI3_ENST00000437480.1_Missense_Mutation_p.S8C	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	8					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S8C(2)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGTGGTCGTGGAGCTGTGGGA	0.453									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				11	161	---	---	---	---	0	0
AUTS2	26053	broad.mit.edu	37	7	70228041	70228041	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:70228041C>A	ENST00000342771.4	+	7	1249	c.928C>A	c.(928-930)Cag>Aag	p.Q310K	AUTS2_ENST00000406775.2_Missense_Mutation_p.Q310K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	310								p.Q310K(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACCCCAGCCGCAGACGGAGCC	0.607													3	38	---	---	---	---	0	0
PTPRD	5789	broad.mit.edu	37	9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:8449746G>A	ENST00000381196.4	-	31	4510	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1323					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R794C(1)|p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463										TSP Lung(15;0.13)			7	291	---	---	---	---	0	0
TRPM6	140803	broad.mit.edu	37	9	77448965	77448965	+	Silent	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:77448965T>C	ENST00000451710.3	-	6	855	c.618A>G	c.(616-618)ggA>ggG	p.G206G	TRPM6_ENST00000361255.3_Silent_p.G201G|TRPM6_ENST00000449912.2_Silent_p.G201G|TRPM6_ENST00000376871.3_Silent_p.G206G|TRPM6_ENST00000376864.4_Silent_p.G206G|TRPM6_ENST00000359047.2_Silent_p.G206G|TRPM6_ENST00000360774.1_Silent_p.G206G|TRPM6_ENST00000376872.3_Silent_p.G206G|TRPM6_ENST00000483186.1_5'UTR			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	206					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G206G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGGAGGGATTCCAACTGTCC	0.418													60	122	---	---	---	---	0	0
SYK	6850	broad.mit.edu	37	9	93606305	93606305	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:93606305G>A	ENST00000375754.4	+	2	273	c.125G>A	c.(124-126)cGc>cAc	p.R42H	SYK_ENST00000375746.1_Missense_Mutation_p.R42H|SYK_ENST00000375751.4_Missense_Mutation_p.R42H|SYK_ENST00000375747.1_Missense_Mutation_p.R42H|SYK_ENST00000476708.1_3'UTR	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	42	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.R42H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TATTTGCTGCGCCAGAGCCGC	0.617			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								6	13	---	---	---	---	0	0
CARD9	64170	broad.mit.edu	37	9	139262118	139262118	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:139262118T>C	ENST00000371732.5	-	8	1405	c.1240A>G	c.(1240-1242)Agg>Ggg	p.R414G	CARD9_ENST00000371734.3_Missense_Mutation_p.R414G	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	414					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	p.R414G(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGCTGCCGCCTGAGCCTGCCC	0.721													2	12	---	---	---	---	0	0
OR4A16	81327	broad.mit.edu	37	11	55110960	55110960	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:55110960G>T	ENST00000314721.2	+	1	334	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95F(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGTCAGCTTGCATGGGTCAG	0.453													10	551	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108235812	108235812	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:108235812C>T	ENST00000278616.4	+	62	9239	c.8854C>T	c.(8854-8856)Ctt>Ttt	p.L2952F	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2952F|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2952	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.L2952F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTTTAGGTCCTTCTATATGA	0.368			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			4	102	---	---	---	---	0	0
GPALPP1	55425	broad.mit.edu	37	13	45594565	45594565	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr13:45594565T>A	ENST00000361121.2	+	7	839		c.e7+2		GPALPP1_ENST00000379151.4_Splice_Site|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_Splice_Site					GPALPP motifs containing 1									p.?(1)									TCATACAATGTAAGTAAGAAA	0.418													5	91	---	---	---	---	0	0
KLC1	3831	broad.mit.edu	37	14	104124043	104124043	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr14:104124043T>C	ENST00000389744.4	+	3	691	c.422T>C	c.(421-423)cTg>cCg	p.L141P	KLC1_ENST00000555836.1_Missense_Mutation_p.L141P|KLC1_ENST00000557450.1_Missense_Mutation_p.L141P|KLC1_ENST00000445352.4_Missense_Mutation_p.L141P|KLC1_ENST00000553286.1_Missense_Mutation_p.L141P|KLC1_ENST00000246489.7_Missense_Mutation_p.L141P|KLC1_ENST00000380038.3_Missense_Mutation_p.L141P|KLC1_ENST00000348520.6_Missense_Mutation_p.L141P|KLC1_ENST00000334553.6_Missense_Mutation_p.L141P|KLC1_ENST00000452929.2_Missense_Mutation_p.L141P|KLC1_ENST00000554280.1_Missense_Mutation_p.L141P|KLC1_ENST00000557575.1_Missense_Mutation_p.L141P|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313P|KLC1_ENST00000347839.6_Missense_Mutation_p.L141P			Q07866	KLC1_HUMAN	kinesin light chain 1	141					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.L141P(1)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GTGGCTCAACTGGAGGAGGAG	0.502													3	77	---	---	---	---	0	0
CCDC178	374864	broad.mit.edu	37	18	30903561	30903561	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr18:30903561C>T	ENST00000383096.3	-	11	1098	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E306K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E306K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E306K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E306K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E306K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E306K					coiled-coil domain containing 178									p.E306K(2)									AAAGCTTCTTCAAGTTCTTCA	0.308													9	47	---	---	---	---	0	0
USP29	0	broad.mit.edu	37	19	57640708	57640708	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:57640708T>C	ENST00000254181.4	+	4	1119	c.665T>C	c.(664-666)tTg>tCg	p.L222S	USP29_ENST00000598197.1_Missense_Mutation_p.L222S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	222					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L222S(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATAGAGATTTGAAACTCGGG	0.363													55	139	---	---	---	---	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688423	26688423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:26688423C>A	ENST00000529632.2	+	2	342	c.146C>A	c.(145-147)tCa>tAa	p.S49*	SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.S49*	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	49						endoplasmic reticulum membrane|integral to membrane		p.S49*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCCTGCCCTCAGGAGCCCCG	0.582													31	66	---	---	---	---	0	0
DUSP18	0	broad.mit.edu	37	22	31059967	31059967	+	Silent	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:31059967G>A	ENST00000403268.1	-	2	494	c.24C>T	c.(22-24)ttC>ttT	p.F8F	DUSP18_ENST00000404885.1_Silent_p.F8F|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000334679.3_Silent_p.F8F|DUSP18_ENST00000407308.1_Silent_p.F8F			Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	8						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.F8F(2)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ACTGAACTGGGAAGGCACACG	0.562													16	36	---	---	---	---	0	0
KLHL21	9903	broad.mit.edu	37	1	6659137	6659137	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:6659137G>A	ENST00000377663.3	-	2	1580	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	KLHL21_ENST00000467612.1_Missense_Mutation_p.A99V|KLHL21_ENST00000377658.4_Missense_Mutation_p.A466V|KLHL21_ENST00000463043.1_Missense_Mutation_p.A99V			Q9UJP4	KLH21_HUMAN	kelch-like family member 21	466					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		p.A466V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GTTTAGAGTCGCAGTCTTGGG	0.592													3	21	---	---	---	---	0	0
USP48	84196	broad.mit.edu	37	1	22056252	22056252	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:22056252C>A	ENST00000308271.9	-	10	1893	c.1245G>T	c.(1243-1245)atG>atT	p.M415I	USP48_ENST00000529637.1_Missense_Mutation_p.M414I|USP48_ENST00000421625.2_Missense_Mutation_p.M415I|USP48_ENST00000400301.1_Missense_Mutation_p.M415I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	415					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.M415I(2)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TATAAACCAACATATATGCAT	0.398													11	304	---	---	---	---	0	0
PLK3	1263	broad.mit.edu	37	1	45269352	45269352	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:45269352G>T	ENST00000372201.4	+	9	1392	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	385						membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.A346S(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCATCAGGATGCCAGGCCAGA	0.597													7	38	---	---	---	---	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186915809	186915809	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:186915809A>G	ENST00000367466.3	+	11	1226	c.1074A>G	c.(1072-1074)aaA>aaG	p.K358K	PLA2G4A_ENST00000442353.2_Silent_p.K298K	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	358	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.K358K(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GCATGGCTAAATATGGTACTT	0.358													23	121	---	---	---	---	0	0
XIRP2	129446	broad.mit.edu	37	2	168105389	168105389	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:168105389C>T	ENST00000409195.1	+	9	7576	c.7487C>T	c.(7486-7488)tCt>tTt	p.S2496F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2274F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2496F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2321					actin cytoskeleton organization	cell junction	actin binding	p.S2496F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTATTGACTCTGCAAACTGT	0.398													9	172	---	---	---	---	0	0
HYAL3	8372	broad.mit.edu	37	3	50332156	50332156	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:50332156C>A	ENST00000336307.1	-	2	1150	c.878G>T	c.(877-879)gGg>gTg	p.G293V	HYAL3_ENST00000415204.1_Missense_Mutation_p.G44V|HYAL3_ENST00000450982.1_Missense_Mutation_p.G293V|HYAL3_ENST00000359051.3_Missense_Mutation_p.G293V|HYAL3_ENST00000513170.1_Missense_Mutation_p.G44V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	293					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	p.G293V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGGAACCTCCCAGATCTCCG	0.612													27	119	---	---	---	---	0	0
SENP7	57337	broad.mit.edu	37	3	101049201	101049201	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:101049201A>G	ENST00000394095.2	-	20	2781	c.2728T>C	c.(2728-2730)Tct>Cct	p.S910P	SENP7_ENST00000394085.3_Missense_Mutation_p.S98P|SENP7_ENST00000394094.2_Missense_Mutation_p.S845P|SENP7_ENST00000348610.3_Missense_Mutation_p.S877P|SENP7_ENST00000314261.7_Missense_Mutation_p.S844P|SENP7_ENST00000394091.1_Missense_Mutation_p.S746P|SENP7_ENST00000358203.3_Missense_Mutation_p.S746P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	910	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCACTCAAAGACAGTGTCGAA	0.328													3	98	---	---	---	---	0	0
ADRB2	154	broad.mit.edu	37	5	148206406	148206406	+	Silent	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr5:148206406C>T	ENST00000305988.4	+	1	251	c.12C>T	c.(10-12)ccC>ccT	p.P4P		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	4					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	p.P4P(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TGGGGCAACCCGGGAACGGCA	0.726													7	88	---	---	---	---	0	0
ZNF292	23036	broad.mit.edu	37	6	87969899	87969899	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:87969899A>G	ENST00000369577.3	+	8	6595	c.6552A>G	c.(6550-6552)caA>caG	p.Q2184Q	ZNF292_ENST00000339907.4_Silent_p.Q2179Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q2039Q(1)|p.Q2184Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTTCCAAGCAATTACTG	0.363													8	449	---	---	---	---	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161999	151161999	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:151161999A>C	ENST00000367328.1	+	17	4437	c.4125A>C	c.(4123-4125)aaA>aaC	p.K1375N	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.K1375N	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1375					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K1375N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TAAGGGAAAAATTTCAGTGTC	0.363													28	195	---	---	---	---	0	0
GTF2IRD1P1	0	broad.mit.edu	37	7	66296183	66296183	+	RNA	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:66296183G>A	ENST00000457166.1	-	0	683					NR_003934.1																						CATTTCTTACGTGTCAGCATC	0.567													6	39	---	---	---	---	0	0
ABCB4	5244	broad.mit.edu	37	7	87104731	87104731	+	Silent	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:87104731C>T	ENST00000265723.4	-	2	162	c.51G>A	c.(49-51)gcG>gcA	p.A17A	ABCB4_ENST00000453593.1_Silent_p.A17A|ABCB4_ENST00000358400.3_Silent_p.A17A|ABCB4_ENST00000359206.3_Silent_p.A17A|ABCB4_ENST00000545634.1_Silent_p.A17A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	17					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.A17A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AGTCGCCCTCCGCGCTCGTGG	0.577													13	93	---	---	---	---	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647070	78647070	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr10:78647070C>A	ENST00000286627.5	-	27	4443	c.3491G>T	c.(3490-3492)aGg>aTg	p.R1164M	KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1222M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1226M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1164M|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1205M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1222M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1191M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1225M	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1222					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.R1164M(2)|p.R1226M(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCGGGACTCCCTGGACTTGGG	0.552													13	327	---	---	---	---	0	0
MALAT1	0	broad.mit.edu	37	11	65269992	65269992	+	RNA	SNP	A	A	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:65269992A>T	ENST00000534336.1	+	0	4760					NR_002819.2																						TGTTTATTTTAAACTTATCTG	0.308													4	99	---	---	---	---	0	0
FOLR3	2352	broad.mit.edu	37	11	71850178	71850178	+	Silent	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:71850178G>T	ENST00000445078.2	+	3	533	c.462G>T	c.(460-462)ggG>ggT	p.G154G	FOLR3_ENST00000456237.1_Silent_p.G156G|FOLR3_ENST00000442948.2_Silent_p.G113G			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	112					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.G156G(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CCAACCTGGGGCCCTGGATCC	0.562													6	48	---	---	---	---	0	0
FKBP4	2288	broad.mit.edu	37	12	2912357	2912357	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:2912357C>G	ENST00000001008.4	+	10	1500	c.1313C>G	c.(1312-1314)aCa>aGa	p.T438R	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	438					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	p.T438R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CCCACTGACACAGAGATGAAG	0.557													2	14	---	---	---	---	0	0
DNM1L	10059	broad.mit.edu	37	12	32871615	32871615	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:32871615A>G	ENST00000452533.2	+	7	822	c.658A>G	c.(658-660)Atg>Gtg	p.M220V	DNM1L_ENST00000266481.6_Missense_Mutation_p.M220V|DNM1L_ENST00000553257.1_Missense_Mutation_p.M233V|DNM1L_ENST00000549701.1_Missense_Mutation_p.M220V|DNM1L_ENST00000381000.4_Missense_Mutation_p.M233V|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000547312.1_Missense_Mutation_p.M220V|DNM1L_ENST00000358214.5_Missense_Mutation_p.M233V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	220	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.M220V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTTGATCTCATGGATGCGGG	0.388													14	312	---	---	---	---	0	0
HAL	3034	broad.mit.edu	37	12	96368030	96368030	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:96368030G>A	ENST00000261208.3	-	21	2322	c.1954C>T	c.(1954-1956)Ccg>Tcg	p.P652S	HAL_ENST00000541929.1_Missense_Mutation_p.P444S|HAL_ENST00000538703.1_3'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	652					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCAGACTCCGGGATTTTGGTG	0.428													6	448	---	---	---	---	0	0
UGGT2	55757	broad.mit.edu	37	13	96579562	96579562	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:96579562A>G	ENST00000376747.3	-	18	2076	c.2006T>C	c.(2005-2007)aTt>aCt	p.I669T		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	669					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	p.I669T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAGAAAATCAATTGCATTCGT	0.303													6	154	---	---	---	---	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36039876	36039876	+	Silent	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:36039876T>G	ENST00000258840.6	-	39	6456	c.6066A>C	c.(6064-6066)acA>acC	p.T2022T	RALGAPA1_ENST00000389698.3_Silent_p.T1975T|RALGAPA1_ENST00000382366.3_Silent_p.T1988T|RALGAPA1_ENST00000307138.6_Silent_p.T1975T	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1975	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.T1975T(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTTATAGCTGTTGCTCTAA	0.363													4	66	---	---	---	---	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59942813	59942813	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:59942813T>G	ENST00000247194.4	-	3	911	c.798A>C	c.(796-798)gaA>gaC	p.E266D	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.E95D	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)									p.E266D(1)									TTAATACCTGTTCATCTGCAA	0.348													8	362	---	---	---	---	0	0
WDR72	256764	broad.mit.edu	37	15	54006701	54006701	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:54006701G>T	ENST00000396328.1	-	6	760	c.521C>A	c.(520-522)tCt>tAt	p.S174Y	WDR72_ENST00000559418.1_Missense_Mutation_p.S174Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S173Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S174Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	174								p.S174Y(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CACCAAGAGAGAATCTTCTGT	0.383													14	119	---	---	---	---	0	0
ISLR2	57611	broad.mit.edu	37	15	74426317	74426317	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:74426317G>A	ENST00000361742.3	+	4	1991	c.1222G>A	c.(1222-1224)Gtc>Atc	p.V408I	ISLR2_ENST00000445793.1_Missense_Mutation_p.V408I|ISLR2_ENST00000435464.1_Missense_Mutation_p.V408I|ISLR2_ENST00000419208.1_Missense_Mutation_p.V408I|ISLR2_ENST00000453268.2_Missense_Mutation_p.V408I|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.V408I|ISLR2_ENST00000565159.1_Missense_Mutation_p.V408I	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	408					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		p.V408I(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGGCAACAGCGTCCTGCCTTC	0.662													3	19	---	---	---	---	0	0
MRM1	79922	broad.mit.edu	37	17	34958384	34958384	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr17:34958384C>A	ENST00000250156.7	+	1	384	c.145C>A	c.(145-147)Ctg>Atg	p.L49M		NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	49					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GACCTCTCGGCTGGAGCTTCT	0.677													4	130	---	---	---	---	0	0
ESCO1	114799	broad.mit.edu	37	18	19154390	19154390	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr18:19154390T>A	ENST00000269214.5	-	4	1352	c.415A>T	c.(415-417)Aga>Tga	p.R139*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	139					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.R139*(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGAATTTCTCTACTGCGTAAC	0.373													14	878	---	---	---	---	0	0
FBN3	84467	broad.mit.edu	37	19	8176568	8176568	+	Missense_Mutation	SNP	G	G	A	rs149551378	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:8176568G>A	ENST00000600128.1	-	32	4462	c.4048C>T	c.(4048-4050)Cgc>Tgc	p.R1350C	FBN3_ENST00000270509.2_Missense_Mutation_p.R1350C|FBN3_ENST00000601739.1_Missense_Mutation_p.R1350C			Q75N90	FBN3_HUMAN	fibrillin 3	1350	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R1350C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGCCCTGGCGGCAGGTGCAG	0.632													12	43	---	---	---	---	0	0
DNM2	1785	broad.mit.edu	37	19	10904491	10904491	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:10904491A>G	ENST00000314646.5	+	8	1252	c.1088A>G	c.(1087-1089)aAt>aGt	p.N363S	DNM2_ENST00000359692.6_Missense_Mutation_p.N363S|DNM2_ENST00000389253.4_Missense_Mutation_p.N363S|DNM2_ENST00000585892.1_Missense_Mutation_p.N363S|DNM2_ENST00000355667.6_Missense_Mutation_p.N363S|DNM2_ENST00000408974.4_Missense_Mutation_p.N363S			P50570	DYN2_HUMAN	dynamin 2	363					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCCCGAATCAATCGCATCTTC	0.617			"""F, N, Splice, Mis, O"""		ETP ALL								5	208	---	---	---	---	0	0
LILRB5	0	broad.mit.edu	37	19	54754760	54754760	+	Missense_Mutation	SNP	C	C	T	rs112549096	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:54754760C>T	ENST00000316219.5	-	13	1770	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T	LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000345866.6_Missense_Mutation_p.A456T|LILRB5_ENST00000449561.2_Missense_Mutation_p.A556T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	555					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.A555T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTAGCTGGGCGTAGGTCACA	0.652													8	73	---	---	---	---	0	0
LILRB1	0	broad.mit.edu	37	19	55148219	55148219	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:55148219G>A	ENST00000396331.1	+	16	2200	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T	LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.A666T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A615T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A599T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A617T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A616T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.A617T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A615T|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Missense_Mutation_p.A599T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A616T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	615					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGTGACCTACGCCCAGCTGCA	0.667										HNSCC(37;0.09)			4	138	---	---	---	---	0	0
N6AMT1	29104	broad.mit.edu	37	21	30255333	30255333	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr21:30255333A>G	ENST00000303775.5	-	2	220	c.195T>C	c.(193-195)tcT>tcC	p.S65S	N6AMT1_ENST00000351429.3_Silent_p.S65S	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	65					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.S65S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGCCTATCATAGAGGCTAGGA	0.333													24	125	---	---	---	---	0	0
PFKL	5211	broad.mit.edu	37	21	45742931	45742931	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr21:45742931A>G	ENST00000403390.1	+	16	1637	c.1637A>G	c.(1636-1638)gAg>gGg	p.E546G	PFKL_ENST00000349048.4_Splice_Site_p.E499G			P17858	K6PL_HUMAN	phosphofructokinase, liver	499					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGTGGGTTTGAGGTGAGAGCT	0.622													3	106	---	---	---	---	0	0
PIGA	5277	broad.mit.edu	37	X	15342939	15342939	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:15342939T>C	ENST00000333590.4	-	5	1120	c.1036A>G	c.(1036-1038)Att>Gtt	p.I346V	PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.I31V|PIGA_ENST00000542278.1_Missense_Mutation_p.I112V	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	346					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	p.I346V(1)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TCACATAAAATAATAAGGTTT	0.383													5	118	---	---	---	---	0	0
HUWE1	10075	broad.mit.edu	37	X	53657925	53657925	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:53657925T>C	ENST00000342160.3	-	11	1281	c.824A>G	c.(823-825)cAg>cGg	p.Q275R	HUWE1_ENST00000218328.8_Missense_Mutation_p.Q275R|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q275R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	275					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGAACTGCCTGCAATCGCTT	0.393													3	112	---	---	---	---	0	0
ATRX	546	broad.mit.edu	37	X	76940433	76940433	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:76940433A>C	ENST00000373344.5	-	8	874	c.660T>G	c.(658-660)tgT>tgG	p.C220W	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C182W	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	220	ADD.		C -> R (in ATRX).|C -> Y (in MRXSHF1).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.C220W(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTACCTACCTACATTGTTCAT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						4	134	---	---	---	---	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593930	135593930	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:135593930T>G	ENST00000535601.1	+	10	2448	c.2026T>G	c.(2026-2028)Tca>Gca	p.S676A	HTATSF1_ENST00000218364.4_Missense_Mutation_p.S676A	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	676	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	p.S676A(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTTTGAAGAGTCAGATGACAA	0.403													6	66	---	---	---	---	0	0
C1orf85	112770	broad.mit.edu	37	1	156263002	156263002	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:156263002T>C	ENST00000362007.1	-	6	1082		c.e6-2		C1orf85_ENST00000482579.1_Splice_Site	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85						positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.?(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGCATCGACCTAGAGCAAGCA	0.622													3	121	---	---	---	---	0	0
CD48	962	broad.mit.edu	37	1	160654892	160654892	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:160654892G>T	ENST00000368045.3	-	2	209	c.170C>A	c.(169-171)aCc>aAc	p.T57N	CD48_ENST00000368046.3_Missense_Mutation_p.T57N			P09326	CD48_HUMAN	CD48 molecule	57	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	p.T57N(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATAAAACCAGGTTAGTTGTTT	0.438													4	112	---	---	---	---	0	0
DHX9	1660	broad.mit.edu	37	1	182812496	182812496	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:182812496A>G	ENST00000367549.3	+	3	289	c.179A>G	c.(178-180)aAt>aGt	p.N60S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	60	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.N60S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCACAAAGCAATGCTGCCAGA	0.363													3	135	---	---	---	---	0	0
C1orf101	257044	broad.mit.edu	37	1	244716060	244716060	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:244716060G>A	ENST00000366534.4	+	9	1027	c.973G>A	c.(973-975)Ggt>Agt	p.G325S	C1orf101_ENST00000366533.4_Missense_Mutation_p.G325S|C1orf101_ENST00000366531.3_Missense_Mutation_p.G174S|C1orf101_ENST00000473875.1_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	325						integral to membrane		p.G325S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCTTCCTGATGGTGGAATTAC	0.284													4	155	---	---	---	---	0	0
CNGA3	1261	broad.mit.edu	37	2	99012981	99012981	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:99012981A>G	ENST00000393504.1	+	8	1765	c.1348A>G	c.(1348-1350)Acg>Gcg	p.T450A	CNGA3_ENST00000436404.2_Missense_Mutation_p.T432A|CNGA3_ENST00000409937.1_Missense_Mutation_p.T454A|CNGA3_ENST00000272602.2_Missense_Mutation_p.T450A	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	450					signal transduction|visual perception	integral to membrane	cGMP binding	p.T450A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAACAAGAAGACGGTGGATGA	0.537													17	37	---	---	---	---	0	0
C1QL2	165257	broad.mit.edu	37	2	119915187	119915187	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:119915187C>G	ENST00000272520.3	-	1	1278	c.659G>C	c.(658-660)tGg>tCg	p.W220S		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	220	C1q.					collagen		p.W220S(1)		NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GAGGTCCGCCCACATGCTGGT	0.647										HNSCC(49;0.14)			6	37	---	---	---	---	0	0
ERCC3	2071	broad.mit.edu	37	2	128050211	128050211	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:128050211G>A	ENST00000493187.2	-	3	717	c.254C>T	c.(253-255)cCt>cTt	p.P85L	ERCC3_ENST00000285398.2_Missense_Mutation_p.P149L			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	149					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	p.P149L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AATTCCATCAGGGACTCCAGT	0.483			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	117	---	---	---	---	0	0
FAM171B	165215	broad.mit.edu	37	2	187627272	187627272	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:187627272A>T	ENST00000304698.5	+	8	2406	c.2203A>T	c.(2203-2205)Atc>Ttc	p.I735F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	735						integral to membrane	DNA binding	p.I735F(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAGCCCAAGATCCTTTACTT	0.488													25	63	---	---	---	---	0	0
COL3A1	1281	broad.mit.edu	37	2	189875581	189875581	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:189875581A>T	ENST00000304636.3	+	50	4389	c.4219A>T	c.(4219-4221)Aaa>Taa	p.K1407*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.K1104*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1407	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.K1407*(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGAAATAGCAAATTCACCTA	0.398													5	115	---	---	---	---	0	0
SPAG16	79582	broad.mit.edu	37	2	214878685	214878685	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:214878685A>G	ENST00000331683.5	+	13	1506	c.1411A>G	c.(1411-1413)Aga>Gga	p.R471G	SPAG16_ENST00000374309.3_Missense_Mutation_p.R377G	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	471					cilium assembly	cilium axoneme|flagellar axoneme		p.R471G(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAAAGATGCAGATGTACTTT	0.343													4	245	---	---	---	---	0	0
GABRG1	2565	broad.mit.edu	37	4	46067560	46067560	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:46067560G>T	ENST00000295452.4	-	4	530	c.363C>A	c.(361-363)gaC>gaA	p.D121E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	121					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.D121E(1)|p.D121D(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTAAACGACTGTCAAACCAGG	0.294													14	62	---	---	---	---	0	0
ANKRD17	26057	broad.mit.edu	37	4	74005375	74005375	+	Silent	SNP	T	T	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:74005375T>G	ENST00000358602.4	-	15	3074	c.2958A>C	c.(2956-2958)ggA>ggC	p.G986G	ANKRD17_ENST00000509867.2_Silent_p.G873G|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	986	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.G986G(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACTGGCTGTCCAACTATCA	0.562													5	32	---	---	---	---	0	0
HIST1H2BO	8348	broad.mit.edu	37	6	27861558	27861558	+	Silent	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr6:27861558G>A	ENST00000303806.4	+	1	356	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	106					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E106E(1)									TGCCCGGGGAGCTGGCCAAGC	0.637													5	64	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100693835	100693835	+	Silent	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:100693835T>C	ENST00000306151.4	+	7	12857	c.12793T>C	c.(12793-12795)Ttg>Ctg	p.L4265L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4265	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L4265L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGACAGTATTGGACAATGC	0.463													8	90	---	---	---	---	0	0
LAMB1	3912	broad.mit.edu	37	7	107575964	107575964	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:107575964C>T	ENST00000393561.1	-	25	4340	c.4156G>A	c.(4156-4158)Gag>Aag	p.E1386K	LAMB1_ENST00000222399.6_Missense_Mutation_p.E1362K|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1362	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.E1362K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATTCTCGCTCCATCATCACG	0.542													145	302	---	---	---	---	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193088	132193088	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:132193088T>C	ENST00000359827.3	-	2	1327	c.365A>G	c.(364-366)tAc>tGc	p.Y122C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y122C|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Y122C|PLXNA4_ENST00000423507.2_Missense_Mutation_p.Y122C			Q9HCM2	PLXA4_HUMAN	plexin A4	122	Sema.					integral to membrane|intracellular|plasma membrane		p.Y122C(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTCTCCTTGTAGTCTATGAG	0.552													4	95	---	---	---	---	0	0
TNKS	8658	broad.mit.edu	37	8	9564325	9564325	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:9564325G>T	ENST00000310430.6	+	8	1300	c.1274G>T	c.(1273-1275)gGa>gTa	p.G425V	TNKS_ENST00000520408.1_Missense_Mutation_p.G425V|TNKS_ENST00000518281.1_Missense_Mutation_p.G188V|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	425					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.G425V(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATTCAGCATGGAGCTTGTGTT	0.373													4	146	---	---	---	---	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794557	37794557	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:37794557C>T	ENST00000307599.4	-	5	637	c.538G>A	c.(538-540)Gtc>Atc	p.V180I		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	180					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	p.V180I(3)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATCACAAGGACACAGCCATGT	0.557													6	80	---	---	---	---	0	0
DCDC1	341019	broad.mit.edu	37	11	31312310	31312310	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:31312310G>C	ENST00000597505.1	-	5	843	c.844C>G	c.(844-846)Ctt>Gtt	p.L282V	DCDC1_ENST00000452803.1_Missense_Mutation_p.L282V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	282					intracellular signal transduction			p.L282V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTAATAGAAAGAACAGGCTTG	0.393													37	91	---	---	---	---	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360202	47360202	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:47360202C>T	ENST00000545968.1	-	23	2231	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725H|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R726H	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	725	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.R726H(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGTCTCCACGCGGACCCGGCC	0.642													10	26	---	---	---	---	0	0
CCDC88B	283234	broad.mit.edu	37	11	64116832	64116832	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:64116832G>T	ENST00000356786.5	+	15	2690	c.2646G>T	c.(2644-2646)aaG>aaT	p.K882N	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.K34N|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	882					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.K882N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCGGGGCAAGGAGTTGGGGG	0.627													3	18	---	---	---	---	0	0
MALAT1	0	broad.mit.edu	37	11	65270044	65270044	+	RNA	SNP	T	T	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:65270044T>A	ENST00000534336.1	+	0	4812					NR_002819.2																						TAGTTCAGCTTGAATGTCTCT	0.308													4	109	---	---	---	---	0	0
CYP27B1	1594	broad.mit.edu	37	12	58160784	58160784	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:58160784C>T	ENST00000228606.4	-	1	250	c.41G>A	c.(40-42)cGc>cAc	p.R14H		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	14					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	p.R14H(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCAGCGGACGCGATGGAACAC	0.627													7	190	---	---	---	---	0	0
TMTC3	160418	broad.mit.edu	37	12	88568465	88568465	+	Silent	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:88568465T>C	ENST00000266712.6	+	9	1501	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	427						integral to membrane	binding	p.D427D(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GAAATTGGGATTGGGAGTCTG	0.343													9	201	---	---	---	---	0	0
FAM192A	80011	broad.mit.edu	37	16	57206263	57206263	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr16:57206263T>C	ENST00000309137.8	-	4	506	c.248A>G	c.(247-249)gAt>gGt	p.D83G	FAM192A_ENST00000564108.1_Missense_Mutation_p.D83G|FAM192A_ENST00000569266.1_Missense_Mutation_p.D83G|FAM192A_ENST00000389447.5_Missense_Mutation_p.D83G|FAM192A_ENST00000567439.1_Missense_Mutation_p.D83G|FAM192A_ENST00000566077.1_Missense_Mutation_p.D6G	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	83						nucleus		p.D83G(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						CTCATCTTCATCTAAGCCTCT	0.368													3	137	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:47696425A>C	ENST00000393331.3	-	7	868	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)			59	155	---	---	---	---	0	0
COL5A3	50509	broad.mit.edu	37	19	10104082	10104082	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr19:10104082C>T	ENST00000264828.3	-	19	1808	c.1723G>A	c.(1723-1725)Ggt>Agt	p.G575S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	575	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.G575S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGGGGGACCGGGTTGCCCC	0.567													6	256	---	---	---	---	0	0
CRYAA	1409	broad.mit.edu	37	21	44589279	44589279	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr21:44589279G>A	ENST00000291554.2	+	1	162	c.70G>A	c.(70-72)Gac>Aac	p.D24N	CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	24					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	p.D24N(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCGGCTGTTCGACCAGTTTTT	0.617													32	117	---	---	---	---	0	0
KDM6A	7403	broad.mit.edu	37	X	44938412	44938412	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chrX:44938412A>G	ENST00000377967.4	+	20	3001	c.2960A>G	c.(2959-2961)aAa>aGa	p.K987R	KDM6A_ENST00000543216.1_Missense_Mutation_p.K908R|KDM6A_ENST00000536777.1_Missense_Mutation_p.K942R|KDM6A_ENST00000382899.4_Missense_Mutation_p.K994R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	987					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.K987R(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCTCTACTAAAACTTTGGTG	0.333			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								4	59	---	---	---	---	0	0
MT-CO1	4512	broad.mit.edu	37	M	6460	6460	+	Silent	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chrM:6460G>A	ENST00000361624.2	+	1	557	c.557G>A	c.(556-558)tGa>tAa	p.*186*						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCTCTTCGTCTGATCCGTCCT	0.473													10	62	---	---	---	---	0	0
LPHN2	23266	broad.mit.edu	37	1	82409004	82409004	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:82409004A>G	ENST00000370728.1	+	8	1394	c.749A>G	c.(748-750)tAc>tGc	p.Y250C	LPHN2_ENST00000370721.1_Missense_Mutation_p.Y254C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y250C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y250C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y250C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y250C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y250C			O95490	LPHN2_HUMAN	latrophilin 2	250	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.Y250C(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TATGCCAACTACCATGATACC	0.403													30	130	---	---	---	---	0	0
NEK7	140609	broad.mit.edu	37	1	198233329	198233329	+	Silent	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:198233329A>G	ENST00000367385.4	+	5	678	c.336A>G	c.(334-336)gaA>gaG	p.E112E	NEK7_ENST00000538004.1_Silent_p.E112E	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	112	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E112E(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TAGTTTTGGAACTAGCAGATG	0.299													25	201	---	---	---	---	0	0
ATXN7	6314	broad.mit.edu	37	3	63898514	63898514	+	Silent	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:63898514G>A	ENST00000398590.3	+	3	793	c.240G>A	c.(238-240)gaG>gaA	p.E80E	ATXN7_ENST00000295900.6_Silent_p.E80E|ATXN7_ENST00000538065.1_Silent_p.E80E|ATXN7_ENST00000487717.1_Silent_p.E80E	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	80					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.E80E(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CGGTCGGGGAGCGCAGGCCTC	0.711													6	29	---	---	---	---	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64554181	64554181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:64554181G>A	ENST00000498707.1	-	29	4729	c.4387C>T	c.(4387-4389)Caa>Taa	p.Q1463*	ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1435*|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1463	TSP type-1 11.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q1463*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACATTTCGTTGTTTATGCCCT	0.428													32	153	---	---	---	---	0	0
ANXA6	309	broad.mit.edu	37	5	150509002	150509002	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr5:150509002G>T	ENST00000354546.5	-	12	1111	c.884C>A	c.(883-885)aCc>aAc	p.T295N	ANXA6_ENST00000521512.1_Missense_Mutation_p.T88N|ANXA6_ENST00000523714.1_Missense_Mutation_p.T263N|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.T295N	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	295						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCATACTTGGTCCGGAAGAT	0.557													7	54	---	---	---	---	0	0
BTN2A3P	0	broad.mit.edu	37	6	26428149	26428149	+	RNA	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:26428149A>G	ENST00000466808.2	+	0	1118																		p.M253V(1)									GCCTGTTATCATGATTATTCT	0.428													67	236	---	---	---	---	0	0
COL11A2	1302	broad.mit.edu	37	6	33138676	33138676	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:33138676C>T	ENST00000341947.2	-	46	3612	c.3385G>A	c.(3385-3387)Gga>Aga	p.G1129R	COL11A2_ENST00000374712.1_Missense_Mutation_p.G1048R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1082R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1022R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1103R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1043R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1069R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1108R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1129	Triple-helical region.			EPGARGP -> GAGGLGT (in Ref. 6; AAA52034).	cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.G1129R(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCCGAGCTCCGGGCTCCCCA	0.577													8	141	---	---	---	---	0	0
TMEM246	84302	broad.mit.edu	37	9	104239189	104239189	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr9:104239189G>T	ENST00000374851.1	-	4	1333	c.186C>A	c.(184-186)agC>agA	p.S62R	TMEM246_ENST00000374848.3_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	62						integral to membrane		p.S62R(2)									GGAACTCTTGGCTCATTTGGT	0.547													30	91	---	---	---	---	0	0
C10orf68	79741	broad.mit.edu	37	10	32856778	32856778	+	Translation_Start_Site	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:32856778G>A	ENST00000375028.3	+	0	15				C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_De_novo_Start_InFrame|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460S|CCDC7_ENST00000362006.5_Missense_Mutation_p.G460S			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68									p.G460S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTCAGATTCAGGTGGACAAAG	0.328													9	89	---	---	---	---	0	0
CCDC7	221016	broad.mit.edu	37	10	32856779	32856779	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:32856779G>T	ENST00000362006.5	+	16	1922	c.1379G>T	c.(1378-1380)gGt>gTt	p.G460V	C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_5'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460V|C10orf68_ENST00000375028.3_5'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	460								p.G460V(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TCAGATTCAGGTGGACAAAGG	0.328													9	89	---	---	---	---	0	0
API5	8539	broad.mit.edu	37	11	43345105	43345105	+	Silent	SNP	A	A	C			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:43345105A>C	ENST00000378852.3	+	6	794	c.669A>C	c.(667-669)ctA>ctC	p.L223L	API5_ENST00000420461.2_Silent_p.L169L|API5_ENST00000531273.1_Silent_p.L223L|API5_ENST00000455725.2_Silent_p.L212L|API5_ENST00000534600.1_Silent_p.L223L|API5_ENST00000534695.1_Intron	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	223					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.L223L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGGCCGACCTAGAACAGACCT	0.463													34	158	---	---	---	---	0	0
SHANK2	22941	broad.mit.edu	37	11	70319095	70319095	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:70319095T>C	ENST00000338508.4	-	33	5431	c.5432A>G	c.(5431-5433)aAt>aGt	p.N1811S	SHANK2_ENST00000409161.1_Missense_Mutation_p.N1214S|SHANK2_ENST00000423696.2_Missense_Mutation_p.N1431S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N1215S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1431					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.N1811S(1)|p.N1215S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATCGATCTCATTGTCCATGAA	0.478													55	245	---	---	---	---	0	0
CARD16	114769	broad.mit.edu	37	11	104915235	104915235	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:104915235T>G	ENST00000375706.2	-	2	175	c.158A>C	c.(157-159)aAg>aCg	p.K53T	CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.K53T|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.K53T|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16									p.K53T(1)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						AGCTCGGGTCTTATCCATAAC	0.428													96	447	---	---	---	---	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777766	43777766	+	Silent	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:43777766A>G	ENST00000389420.3	-	30	4466	c.4467T>C	c.(4465-4467)tgT>tgC	p.C1489C		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1489	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.C1489C(2)|p.S1489S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCCAGAGCCACAGGTCACAG	0.413													4	56	---	---	---	---	0	0
TM9SF2	9375	broad.mit.edu	37	13	100206634	100206634	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:100206634C>T	ENST00000376387.4	+	14	1755	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	522					transport	endosome membrane|integral to plasma membrane		p.P522L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AAGCCCTTGCCTGGTATTATC	0.418													43	154	---	---	---	---	0	0
TEKT1	83659	broad.mit.edu	37	17	6716186	6716186	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr17:6716186C>G	ENST00000338694.2	-	6	945	c.816G>C	c.(814-816)aaG>aaC	p.K272N	TEKT1_ENST00000535086.1_Missense_Mutation_p.K126N	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	272					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.K272N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCCTGGCATCCTTTGTATCCT	0.527													32	158	---	---	---	---	0	0
DYRK1A	1859	broad.mit.edu	37	21	38858790	38858790	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr21:38858790G>A	ENST00000339659.4	+	5	1981	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	DYRK1A_ENST00000398960.2_Missense_Mutation_p.V180M|DYRK1A_ENST00000321219.8_Missense_Mutation_p.V180M|DYRK1A_ENST00000338785.3_Missense_Mutation_p.V180M|DYRK1A_ENST00000451934.1_Missense_Mutation_p.V180M|DYRK1A_ENST00000398956.2_Missense_Mutation_p.V180M	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.V180M(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATATGATCGTGTGGAGCAAGA	0.308													36	167	---	---	---	---	0	0
MED12	9968	broad.mit.edu	37	X	70349258	70349258	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:70349258C>T	ENST00000333646.6	+	26	3869	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000374080.3_Missense_Mutation_p.L1224F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	34	---	---	---	---	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959282	117959282	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:117959282G>A	ENST00000310164.2	+	4	582	c.75G>A	c.(73-75)atG>atA	p.M25I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.M25I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CCCATTCCATGCTGAGGTCCC	0.572													25	46	---	---	---	---	0	0
GBP1	2633	broad.mit.edu	37	1	89523762	89523762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:89523762C>T	ENST00000370473.4	-	6	1006	c.787G>A	c.(787-789)Gtg>Atg	p.V263M		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	263					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.V263M(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACTTGTTGCACAAATTCGGGG	0.473													23	351	---	---	---	---	0	0
KCND3	3752	broad.mit.edu	37	1	112524316	112524316	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:112524316C>T	ENST00000369697.1	-	1	1102	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S	KCND3_ENST00000302127.4_Missense_Mutation_p.G345S|KCND3_ENST00000315987.2_Missense_Mutation_p.G345S			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	345						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.G345S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GCCGAGGAGCCCTTCTCGGCA	0.527													35	39	---	---	---	---	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015938	145015938	+	Silent	SNP	C	C	T	rs144857876	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:145015938C>T	ENST00000369359.4	-	3	401	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PDE4DIP_ENST00000493130.2_Silent_p.P50P|PDE4DIP_ENST00000369348.3_Silent_p.P121P|PDE4DIP_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000530740.1_Silent_p.P121P|PDE4DIP_ENST00000478649.2_Silent_p.P50P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.P121P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGCACAAACGGGACCTTTT	0.443			T	PDGFRB	MPD								73	518	---	---	---	---	0	0
KCNH1	3756	broad.mit.edu	37	1	210977309	210977309	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:210977309C>A	ENST00000367007.4	-	8	1750	c.1581G>T	c.(1579-1581)aaG>aaT	p.K527N	KCNH1_ENST00000271751.4_Splice_Site_p.K554N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	554					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.K554N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCCTCCTTACCTTCTCTGTGT	0.488													68	113	---	---	---	---	0	0
KANSL1L	151050	broad.mit.edu	37	2	210968826	210968826	+	Splice_Site	SNP	A	A	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:210968826A>C	ENST00000281772.9	-	4	1692		c.e4+1		KANSL1L_ENST00000457374.1_Splice_Site|KANSL1L_ENST00000452086.1_Splice_Site|KANSL1L_ENST00000418791.1_Splice_Site	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like									p.?(1)									CTTTGACTTTACCTGTTTTTC	0.368													7	79	---	---	---	---	0	0
SLC25A20	788	broad.mit.edu	37	3	48896044	48896044	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:48896044T>G	ENST00000319017.4	-	8	937	c.739A>C	c.(739-741)Aat>Cat	p.N247H	SLC25A20_ENST00000430379.1_Missense_Mutation_p.N174H|SLC25A20_ENST00000544097.1_Missense_Mutation_p.N197H	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	247					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	p.N247H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTGAAACCATTAGGATATTTC	0.493													82	126	---	---	---	---	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137219	121137219	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:121137219C>A	ENST00000273666.6	+	27	3605	c.3334C>A	c.(3334-3336)Ctt>Att	p.L1112I	STXBP5L_ENST00000471454.1_Missense_Mutation_p.L1088I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1112					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.L1112I(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATCCCGCAGCCTTGCGCAACA	0.483													4	42	---	---	---	---	0	0
CCSER1	401145	broad.mit.edu	37	4	91229663	91229663	+	Silent	SNP	T	T	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr4:91229663T>C	ENST00000509176.1	+	2	516	c.228T>C	c.(226-228)agT>agC	p.S76S	CCSER1_ENST00000432775.2_Silent_p.S76S|CCSER1_ENST00000333691.8_Silent_p.S76S	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1									p.S76S(2)									AGAAGGGGAGTGAGCCTAAGC	0.458													53	86	---	---	---	---	0	0
FST	10468	broad.mit.edu	37	5	52780040	52780040	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:52780040C>A	ENST00000396947.3	+	4	804	c.638C>A	c.(637-639)aCc>aAc	p.T213N	FST_ENST00000256759.3_Missense_Mutation_p.T213N	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	213	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	p.T213N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GATGGAGTCACCTACTCCAGT	0.502													13	95	---	---	---	---	0	0
SGCD	6444	broad.mit.edu	37	5	156184679	156184679	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:156184679C>T	ENST00000435422.3	+	7	1147	c.660C>T	c.(658-660)tgC>tgT	p.C220C	SGCD_ENST00000517913.1_Silent_p.C221C|SGCD_ENST00000337851.4_Silent_p.C221C|SGCD_ENST00000447401.1_Silent_p.C221C	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	220					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.C221C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGCCACCTGCAGGACAGAGC	0.512													7	12	---	---	---	---	0	0
GFPT2	9945	broad.mit.edu	37	5	179731798	179731798	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:179731798C>T	ENST00000253778.8	-	17	1985	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	606	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.A606T(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGCTGCAGGGCGTTCTGGCAT	0.607													23	292	---	---	---	---	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403808	28403808	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:28403808G>A	ENST00000289788.4	-	2	381	c.236C>T	c.(235-237)cCa>cTa	p.P79L	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	79	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P79L(1)		breast(1)|prostate(1)|stomach(2)	4						GTGCATCTCTGGTCTCAGCCA	0.587													5	43	---	---	---	---	0	0
CPNE5	57699	broad.mit.edu	37	6	36767797	36767797	+	Silent	SNP	G	G	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:36767797G>T	ENST00000244751.2	-	4	858	c.234C>A	c.(232-234)cgC>cgA	p.R78R		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	78	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAATGAACTTGCGCACGAAGT	0.542													3	43	---	---	---	---	0	0
SYNE1	23345	broad.mit.edu	37	6	152832185	152832185	+	Silent	SNP	T	T	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:152832185T>A	ENST00000367255.5	-	7	964	c.363A>T	c.(361-363)atA>atT	p.I121I	SYNE1_ENST00000413186.2_Silent_p.I121I|SYNE1_ENST00000265368.4_Silent_p.I121I|SYNE1_ENST00000423061.1_Silent_p.I128I|SYNE1_ENST00000367253.4_Silent_p.I121I|SYNE1_ENST00000466159.2_Silent_p.I121I|SYNE1_ENST00000341594.5_Silent_p.I121I|SYNE1_ENST00000367248.3_Silent_p.I128I|SYNE1_ENST00000448038.1_Silent_p.I128I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	121	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.I121I(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCAAGAACTATTGAGGGTC	0.373										HNSCC(10;0.0054)			27	155	---	---	---	---	0	0
AKAP9	10142	broad.mit.edu	37	7	91712644	91712644	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr7:91712644T>G	ENST00000359028.2	+	34	8582	c.8357T>G	c.(8356-8358)cTg>cGg	p.L2786R	AKAP9_ENST00000356239.3_Missense_Mutation_p.L2774R|AKAP9_ENST00000358100.2_Missense_Mutation_p.L2786R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2786					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.L2786R(1)|p.L2774R(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTATAAAACTGAGTAAGAGC	0.388			T	BRAF	papillary thyroid								10	63	---	---	---	---	0	0
LRP12	29967	broad.mit.edu	37	8	105509611	105509611	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr8:105509611G>T	ENST00000276654.5	-	5	1277	c.1169C>A	c.(1168-1170)aCt>aAt	p.T390N	LRP12_ENST00000424843.2_Missense_Mutation_p.T371N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	390	LDL-receptor class A 3.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.T390N(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCTGCTCAGTATAACACCC	0.453													23	176	---	---	---	---	0	0
ROR2	4920	broad.mit.edu	37	9	94486842	94486842	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:94486842T>C	ENST00000375708.3	-	9	2132	c.1934A>G	c.(1933-1935)tAc>tGc	p.Y645C	ROR2_ENST00000375715.1_Missense_Mutation_p.Y505C|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	645	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.Y645C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGCTTGTAGTAATCGGCGGC	0.562													23	24	---	---	---	---	0	0
PTPN3	0	broad.mit.edu	37	9	112185102	112185102	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:112185102C>T	ENST00000412145.1	-	8	3192	c.639G>A	c.(637-639)gtG>gtA	p.V213V	PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Silent_p.V344V|PTPN3_ENST00000262539.3_Intron	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	344	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	p.V344V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCCGCCAATCACCTTTTTGC	0.463													78	117	---	---	---	---	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134497351	134497351	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:134497351C>T	ENST00000372195.1	-	11	1980	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S	RAPGEF1_ENST00000372189.3_Silent_p.S562S|RAPGEF1_ENST00000372190.3_Silent_p.S580S			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	562					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	p.S257S(1)|p.S580S(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTGCGGCTCCGAGTAGTCCT	0.587													10	17	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108192065	108192065	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:108192065G>A	ENST00000278616.4	+	45	6875	c.6490G>A	c.(6490-6492)Gag>Aag	p.E2164K	ATM_ENST00000452508.2_Missense_Mutation_p.E2164K|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2164	FAT.		E -> K (in T-prolymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E2164K(3)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCGCAGCCTTGAGTCTGTGTA	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			66	131	---	---	---	---	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790584	133790584	+	Silent	SNP	G	G	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:133790584G>T	ENST00000321016.8	-	18	3266	c.3036C>A	c.(3034-3036)atC>atA	p.I1012I	IGSF9B_ENST00000533871.2_Silent_p.I1012I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1012	Pro-rich.					integral to membrane|plasma membrane		p.I1012I(1)|p.I468I(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCTCCTCGGGGATGGTGGGGT	0.672													8	109	---	---	---	---	0	0
PCDH17	27253	broad.mit.edu	37	13	58207456	58207456	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr13:58207456G>T	ENST00000377918.3	+	1	802	c.776G>T	c.(775-777)gGt>gTt	p.G259V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	259	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G259V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCTCCGCTGGGTACAGTGGTC	0.582													35	51	---	---	---	---	0	0
ZNF592	9640	broad.mit.edu	37	15	85326137	85326137	+	Silent	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr15:85326137G>A	ENST00000299927.3	+	1	253	c.231G>A	c.(229-231)gaG>gaA	p.E77E	ZNF592_ENST00000560079.2_Silent_p.E77E			Q92610	ZN592_HUMAN	zinc finger protein 592	77					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E77E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCGCCAGGAGTCATTTGAAG	0.527													9	83	---	---	---	---	0	0
MYO1D	4642	broad.mit.edu	37	17	30986138	30986138	+	Silent	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:30986138G>A	ENST00000318217.5	-	17	2644	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	MYO1D_ENST00000394649.4_Silent_p.F692F|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.F780F	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	780						myosin complex	actin binding|ATP binding|calmodulin binding	p.F780F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CTTACCTATTGAAAATCGTCT	0.493											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	61	---	---	---	---	0	0
GRB7	2886	broad.mit.edu	37	17	37898891	37898891	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:37898891T>G	ENST00000309156.4	+	3	485	c.228T>G	c.(226-228)agT>agG	p.S76R	GRB7_ENST00000445327.2_Missense_Mutation_p.S99R|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000309185.3_Missense_Mutation_p.S76R|GRB7_ENST00000394211.3_Missense_Mutation_p.S76R|GRB7_ENST00000394204.1_Missense_Mutation_p.S76R|GRB7_ENST00000394209.2_Missense_Mutation_p.S76R	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	76					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	p.S76R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCTCTGCAGTCCTCCCTCAC	0.632													60	109	---	---	---	---	0	0
ETV4	2118	broad.mit.edu	37	17	41611325	41611325	+	Silent	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:41611325G>A	ENST00000319349.5	-	6	583	c.285C>T	c.(283-285)atC>atT	p.I95I	ETV4_ENST00000393664.2_Silent_p.I95I|ETV4_ENST00000538265.1_Silent_p.I56I|ETV4_ENST00000545089.1_Silent_p.I95I|ETV4_ENST00000591713.1_Silent_p.I95I|ETV4_ENST00000545954.1_Silent_p.I56I	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	95					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I95I(1)	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCTCCTTCTTGATCCTGGTGG	0.627			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								37	18	---	---	---	---	0	0
FZD2	2535	broad.mit.edu	37	17	42635479	42635479	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635479C>T	ENST00000315323.3	+	1	555	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	141	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.F141F(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGAGCACTTCCCGCGCCACG	0.711													36	45	---	---	---	---	0	0
FZD2	2535	broad.mit.edu	37	17	42635702	42635702	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635702C>G	ENST00000315323.3	+	1	778	c.646C>G	c.(646-648)Ctg>Gtg	p.L216V		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	216					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.L216V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTACAAGTTTCTGGGCGAGCG	0.672													22	22	---	---	---	---	0	0
FZD2	2535	broad.mit.edu	37	17	42636061	42636061	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636061C>G	ENST00000315323.3	+	1	1137	c.1005C>G	c.(1003-1005)taC>taG	p.Y335*		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	335					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.Y335*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGATGCTCTACTTCTTCAGCA	0.617													33	71	---	---	---	---	0	0
FZD2	2535	broad.mit.edu	37	17	42636173	42636173	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636173C>T	ENST00000315323.3	+	1	1249	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	373					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.H373Y(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAGTACTTCCACCTGGCCGC	0.662													52	90	---	---	---	---	0	0
FZD2	2535	broad.mit.edu	37	17	42636211	42636211	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636211C>T	ENST00000315323.3	+	1	1287	c.1155C>T	c.(1153-1155)atC>atT	p.I385I		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	385					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.I385I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAAGACCATCACCATCCTGG	0.677													53	93	---	---	---	---	0	0
FZD2	2535	broad.mit.edu	37	17	42636499	42636499	+	Silent	SNP	C	C	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636499C>T	ENST00000315323.3	+	1	1575	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	481					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.F481F(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTTGCTACTTCTACGAGCAGG	0.647													23	36	---	---	---	---	0	0
LAMA1	284217	broad.mit.edu	37	18	6943333	6943333	+	Silent	SNP	C	C	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr18:6943333C>A	ENST00000389658.3	-	62	9006	c.8913G>T	c.(8911-8913)gtG>gtT	p.V2971V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2971	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATCACAGAGCACAGTGGCGG	0.458													5	154	---	---	---	---	0	0
CHST8	64377	broad.mit.edu	37	19	34180279	34180279	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr19:34180279G>A	ENST00000262622.4	+	2	870	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000434302.1_Missense_Mutation_p.A38T|CHST8_ENST00000438847.3_Missense_Mutation_p.A38T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.A38T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TACGGAGCTCGCCCCCCAGCA	0.632													50	103	---	---	---	---	0	0
FOXA2	3170	broad.mit.edu	37	20	22563512	22563512	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr20:22563512G>A	ENST00000419308.2	-	2	552	c.368C>T	c.(367-369)gCg>gTg	p.A123V	FOXA2_ENST00000377115.4_Missense_Mutation_p.A117V	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	123					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.A117V(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCCCCGGCCGCCTGCCCCCC	0.781													11	17	---	---	---	---	0	0
NELFCD	51497	broad.mit.edu	37	20	57564072	57564072	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr20:57564072T>A	ENST00000602795.1	+	5	602	c.554T>A	c.(553-555)gTt>gAt	p.V185D	NELFCD_ENST00000344018.3_Missense_Mutation_p.V176D	NM_198976.2	NP_945327.2			negative elongation factor complex member C/D									p.V176D(1)									AACTTCACCGTTAAGGTAGGA	0.408													5	89	---	---	---	---	0	0
CXorf58	254158	broad.mit.edu	37	X	23934359	23934359	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chrX:23934359T>C	ENST00000379211.3	+	5	886	c.337T>C	c.(337-339)Ttc>Ctc	p.F113L		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	113								p.F113L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						GTTTCCACCTTTCATCGTGTT	0.338													19	7	---	---	---	---	0	0
KLHL13	90293	broad.mit.edu	37	X	117053579	117053579	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chrX:117053579G>C	ENST00000371876.1	-	3	2743	c.322C>G	c.(322-324)Ctt>Gtt	p.L108V	KLHL13_ENST00000540167.1_Missense_Mutation_p.L143V|KLHL13_ENST00000539496.1_Missense_Mutation_p.L162V|KLHL13_ENST00000469946.1_Missense_Mutation_p.L108V|KLHL13_ENST00000371882.1_Missense_Mutation_p.L108V|KLHL13_ENST00000262820.3_Missense_Mutation_p.L159V|KLHL13_ENST00000371878.1_Missense_Mutation_p.L108V|KLHL13_ENST00000545703.1_Missense_Mutation_p.L117V|KLHL13_ENST00000541812.1_Missense_Mutation_p.L143V			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	159	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.L159V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCATATTAAGAGAAAGCTTT	0.378													6	80	---	---	---	---	0	0
GPATCH4	54865	broad.mit.edu	37	1	156568875	156568875	+	Translation_Start_Site	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:156568875G>T	ENST00000368232.4	-	0	96				GPATCH4_ENST00000438976.2_Intron|GPATCH4_ENST00000334588.7_De_novo_Start_OutOfFrame	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4							intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTCTCACCAGAGAAGAAGAG	0.448													3	71	---	---	---	---	0	0
OR6K2	81448	broad.mit.edu	37	1	158669837	158669837	+	Silent	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:158669837G>T	ENST00000359610.2	-	1	649	c.606C>A	c.(604-606)gtC>gtA	p.V202V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V202V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTGCATGAATGACATCCACTA	0.483													31	194	---	---	---	---	0	0
TM4SF18	116441	broad.mit.edu	37	3	149040066	149040066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr3:149040066C>A	ENST00000296059.2	-	5	833	c.568G>T	c.(568-570)Gga>Tga	p.G190*	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Nonsense_Mutation_p.G190*	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	190						integral to membrane		p.G190*(1)		lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAATAGCTTCCACACAGTATC	0.428													3	83	---	---	---	---	0	0
GRID2	2895	broad.mit.edu	37	4	94006409	94006409	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr4:94006409A>G	ENST00000282020.4	+	3	766	c.508A>G	c.(508-510)Ata>Gta	p.I170V	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	170					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I170V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAAATTCATTATATTCTATGA	0.353													4	347	---	---	---	---	0	0
C6orf165	154313	broad.mit.edu	37	6	88138375	88138375	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:88138375C>G	ENST00000507897.1	+	9	1075	c.992C>G	c.(991-993)aCc>aGc	p.T331S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T331S			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	331								p.T331S(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTCTGTGGACCAGCTTGCAA	0.368													35	346	---	---	---	---	0	0
CYP3A43	64816	broad.mit.edu	37	7	99441785	99441785	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:99441785C>A	ENST00000354829.2	+	4	341	c.238C>A	c.(238-240)Ccc>Acc	p.P80T	CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	80			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.P80T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GGGGCAACAGCCCATGCTGGT	0.458													4	82	---	---	---	---	0	0
AGK	55750	broad.mit.edu	37	7	141315347	141315347	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:141315347A>T	ENST00000355413.4	+	8	760	c.500A>T	c.(499-501)gAa>gTa	p.E167V	AGK_ENST00000535825.1_Missense_Mutation_p.E164V|AGK_ENST00000473247.1_Missense_Mutation_p.E139V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	167	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	p.E167V(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CTCTTTGCCGAAAGTGGAAAC	0.443													68	321	---	---	---	---	0	0
NSMAF	8439	broad.mit.edu	37	8	59515931	59515931	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr8:59515931C>T	ENST00000038176.3	-	13	1095	c.883G>A	c.(883-885)Gag>Aag	p.E295K	NSMAF_ENST00000427130.2_Missense_Mutation_p.E326K|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	295	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	p.E295K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GCAGTGTGCTCCGCCACATGG	0.552													23	106	---	---	---	---	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18662047	18662047	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr9:18662047G>A	ENST00000380548.4	+	9	1400	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	354						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C354Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTTCAGGAGTGCAACTTGGAT	0.418													38	209	---	---	---	---	0	0
ZNF438	220929	broad.mit.edu	37	10	31133925	31133925	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:31133925C>G	ENST00000452305.1	-	9	2985	c.2422G>C	c.(2422-2424)Gga>Cga	p.G808R	ZNF438_ENST00000375311.1_Missense_Mutation_p.G382R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G808R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G818R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G818R|ZNF438_ENST00000361310.3_Missense_Mutation_p.G818R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G818R|ZNF438_ENST00000538351.2_Missense_Mutation_p.G769R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G808R	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G818R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCGATCACTCCCTGGTTGGAG	0.542													80	364	---	---	---	---	0	0
TNKS2	80351	broad.mit.edu	37	10	93600428	93600428	+	Silent	SNP	A	A	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:93600428A>G	ENST00000371627.4	+	14	2017	c.1638A>G	c.(1636-1638)ctA>ctG	p.L546L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	546					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.L546L(2)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AATATCTGCTACAGCATGGAG	0.433													7	330	---	---	---	---	0	0
MUC6	4588	broad.mit.edu	37	11	1019457	1019457	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:1019457G>A	ENST00000421673.2	-	30	3898	c.3848C>T	c.(3847-3849)aCa>aTa	p.T1283I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1283	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.T1283I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCCCTGATGTGGCTTGTGG	0.642													5	188	---	---	---	---	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67196653	67196653	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:67196653G>A	ENST00000312629.5	+	3	227	c.182G>A	c.(181-183)cGc>cAc	p.R61H	RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R61H|RPS6KB2_ENST00000524814.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	61					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	p.R61H(3)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GGCCCAGAGCGCATCGGGCCC	0.622													4	192	---	---	---	---	0	0
ATF7IP	55729	broad.mit.edu	37	12	14628823	14628823	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr12:14628823G>T	ENST00000544627.1	+	11	3206		c.e11-1		ATF7IP_ENST00000540793.1_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	p.?(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGTTTTTCAGTGTGGAAAAG	0.363													18	101	---	---	---	---	0	0
TRPV2	51393	broad.mit.edu	37	17	16321054	16321054	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:16321054G>T	ENST00000338560.7	+	2	471	c.72G>T	c.(70-72)gaG>gaT	p.E24D	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	24	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.E24D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGGCTCTGAGGCGGACAGAG	0.577													4	109	---	---	---	---	0	0
CRLF3	51379	broad.mit.edu	37	17	29111372	29111372	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:29111372T>G	ENST00000324238.6	-	8	1286	c.1162A>C	c.(1162-1164)Act>Cct	p.T388P	CRLF3_ENST00000544695.1_Missense_Mutation_p.T272P	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	388					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		p.T388P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GTTCCTAGAGTCACGGCTTCA	0.388													3	137	---	---	---	---	0	0
COIL	8161	broad.mit.edu	37	17	55028287	55028287	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:55028287G>A	ENST00000240316.4	-	2	350	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	106						Cajal body|nucleolus	protein C-terminus binding	p.L106F(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GCTTTTCTAAGAGATAAATTA	0.378													4	230	---	---	---	---	0	0
PARVB	29780	broad.mit.edu	37	22	44527372	44527372	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr22:44527372C>G	ENST00000338758.7	+	5	445	c.382C>G	c.(382-384)Ctg>Gtg	p.L128V	PARVB_ENST00000406477.3_Missense_Mutation_p.L161V|PARVB_ENST00000404989.1_Missense_Mutation_p.L91V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta		CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	p.L161V(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGCAGAAAAACTGGCAGGGTG	0.542													7	78	---	---	---	---	0	0
S100PBP	64766	broad.mit.edu	37	1	33291705	33291705	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:33291705T>C	ENST00000373475.5	+	3	259	c.5T>C	c.(4-6)aTg>aCg	p.M2T	S100PBP_ENST00000373476.1_Missense_Mutation_p.M2T|S100PBP_ENST00000398243.3_Missense_Mutation_p.M2T|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	2						nucleus	calcium-dependent protein binding	p.M2T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGAAATGATGTGCTCACGG	0.428													48	106	---	---	---	---	0	0
C1orf177	163747	broad.mit.edu	37	1	55280637	55280637	+	Silent	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:55280637C>T	ENST00000358193.3	+	8	1029	c.975C>T	c.(973-975)ccC>ccT	p.P325P	C1orf177_ENST00000371273.3_Silent_p.P325P	NM_152607.2	NP_689820	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	325								p.P325P(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AATGCAAACCCGTCAACCAGC	0.547													41	140	---	---	---	---	0	0
LRIG2	9860	broad.mit.edu	37	1	113636959	113636959	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:113636959A>T	ENST00000361127.5	+	5	713		c.e5-1			NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane		p.?(2)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGTTTATTTTAGGAATTTAAG	0.323													4	80	---	---	---	---	0	0
CACNA1E	777	broad.mit.edu	37	1	181762828	181762828	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:181762828G>A	ENST00000357570.5	+	45	6091	c.5779G>A	c.(5779-5781)Gtg>Atg	p.V1927M	CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1957M|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1976M|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367570.1_Intron			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1976					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V1976M(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTAAAAAGCGTGCAGCCCTC	0.517													6	27	---	---	---	---	0	0
WDR43	23160	broad.mit.edu	37	2	29148007	29148007	+	Silent	SNP	T	T	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:29148007T>G	ENST00000407426.3	+	8	1130	c.1074T>G	c.(1072-1074)acT>acG	p.T358T		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	358						nucleolus		p.T401T(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TTCAGCCTACTATTGAGCGAG	0.413													12	39	---	---	---	---	0	0
PTH2R	5746	broad.mit.edu	37	2	209292995	209292995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:209292995G>T	ENST00000272847.2	+	2	358	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	49						integral to plasma membrane	parathyroid hormone receptor activity	p.E49*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGTACAATGTGAACTCAACAT	0.413													3	43	---	---	---	---	0	0
IKZF2	22807	broad.mit.edu	37	2	213886796	213886796	+	Silent	SNP	C	C	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:213886796C>G	ENST00000457361.1	-	6	801	c.633G>C	c.(631-633)ctG>ctC	p.L211L	IKZF2_ENST00000342002.2_Silent_p.L217L|IKZF2_ENST00000421754.2_Silent_p.L185L|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374327.4_Silent_p.L66L|IKZF2_ENST00000374319.4_Silent_p.L185L|IKZF2_ENST00000413091.3_Silent_p.L211L|IKZF2_ENST00000434687.1_Silent_p.L211L	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L211L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGTGCTCCTCCAGTGAACTGC	0.507													6	122	---	---	---	---	0	0
FN1	2335	broad.mit.edu	37	2	216236934	216236934	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:216236934C>A	ENST00000354785.4	-	40	6781	c.6412G>T	c.(6412-6414)Ggg>Tgg	p.G2138W	FN1_ENST00000323926.6_Missense_Mutation_p.G2138W|FN1_ENST00000336916.4_Missense_Mutation_p.G2047W|FN1_ENST00000357867.4_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000359671.1_Missense_Mutation_p.G2047W|FN1_ENST00000421182.1_Missense_Mutation_p.G1932W|FN1_ENST00000432072.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.G2022W|FN1_ENST00000356005.4_Missense_Mutation_p.G1957W|FN1_ENST00000443816.1_Missense_Mutation_p.G1957W			P02751	FINC_HUMAN	fibronectin 1	2047	Fibronectin type-III 16.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.G2047W(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTTGTTGCCCAACACTGGGT	0.532													4	145	---	---	---	---	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185542687	185542687	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr3:185542687T>C	ENST00000382199.2	-	1	157	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.Q21R|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.Q21R	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	21	RRM 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.Q21R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCCAAAGAGCTGCCGGAGGTC	0.682													3	14	---	---	---	---	0	0
SLC2A9	56606	broad.mit.edu	37	4	9828095	9828095	+	Silent	SNP	T	T	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:9828095T>G	ENST00000506583.1	-	14	1679	c.1462A>C	c.(1462-1464)Agg>Cgg	p.R488R	SLC2A9_ENST00000264784.3_Silent_p.R517R|SLC2A9_ENST00000309065.3_Silent_p.R488R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	517					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.R488R(1)|p.R517R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GCTTTGTTCCTTTTGGAAAAT	0.428													6	316	---	---	---	---	0	0
ANKRD17	26057	broad.mit.edu	37	4	74043162	74043162	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:74043162C>A	ENST00000358602.4	-	2	598	c.482G>T	c.(481-483)gGt>gTt	p.G161V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.G48V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G161V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	161					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.G161V(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGGTCTGCACCATCAGCAGT	0.413													8	231	---	---	---	---	0	0
RIOK1	83732	broad.mit.edu	37	6	7405482	7405482	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:7405482A>G	ENST00000379834.2	+	12	1604	c.1097A>G	c.(1096-1098)gAt>gGt	p.D366G		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	366	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.D359G(1)|p.D366G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CTTCTGACAGATTTCTTTATG	0.363													32	79	---	---	---	---	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111912533	111912533	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:111912533G>T	ENST00000368761.5	-	2	1235	c.757C>A	c.(757-759)Ccc>Acc	p.P253T	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P262T|TRAF3IP2_ENST00000392556.4_5'UTR	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	262					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		p.P253T(1)|p.P262T(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GAAAGATTGGGAGGCAGCATC	0.537													31	48	---	---	---	---	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561339	44561339	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:44561339A>C	ENST00000289547.4	-	12	2980	c.2925T>G	c.(2923-2925)aaT>aaG	p.N975K	NPC1L1_ENST00000546276.1_Missense_Mutation_p.N929K|NPC1L1_ENST00000381160.3_Missense_Mutation_p.N975K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	975					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.N975K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACTTGTCCTTATTGGGGCCAG	0.577													3	110	---	---	---	---	0	0
SLC25A13	10165	broad.mit.edu	37	7	95750981	95750981	+	Silent	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:95750981A>G	ENST00000416240.2	-	17	2020	c.1830T>C	c.(1828-1830)atT>atC	p.I610I	SLC25A13_ENST00000265631.5_Silent_p.I609I|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000542654.1_Silent_p.I501I	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	609					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	p.I609I(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CTCCAAAATCAATGTAGAACC	0.413													79	244	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100684772	100684772	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:100684772A>G	ENST00000306151.4	+	3	10139	c.10075A>G	c.(10075-10077)Acc>Gcc	p.T3359A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3359	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T3359A(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAGGCTAGCACCCTTTCCAC	0.488													123	436	---	---	---	---	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23056931	23056931	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr8:23056931C>A	ENST00000221132.3	-	8	926	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	288					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	p.G288W(2)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCCCCAGGCCCTCGTAGGAGA	0.602													4	90	---	---	---	---	0	0
CACNB2	783	broad.mit.edu	37	10	18828621	18828621	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr10:18828621G>A	ENST00000396576.2	+	13	2287	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	CACNB2_ENST00000352115.6_Missense_Mutation_p.E627K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.E558K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E651K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E401K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E599K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E623K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E597K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E603K	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	651					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.E596K(1)|p.E627K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGAGGCTGGGGAGTGGAACAG	0.423													9	120	---	---	---	---	0	0
OR5I1	10798	broad.mit.edu	37	11	55703643	55703643	+	Missense_Mutation	SNP	G	G	T	rs144543203		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:55703643G>T	ENST00000301532.3	-	1	233	c.234C>A	c.(232-234)gaC>gaA	p.D78E		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D78E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGGAACAATGTCTGAGAAAT	0.383													4	104	---	---	---	---	0	0
ROBO4	54538	broad.mit.edu	37	11	124756546	124756546	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:124756546C>T	ENST00000306534.3	-	16	3093	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.E725K	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	870					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.E870K(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AAGGAGCCCTCGCTGGGGGTG	0.667													14	33	---	---	---	---	0	0
ATP2B1	490	broad.mit.edu	37	12	90020309	90020309	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr12:90020309T>C	ENST00000428670.3	-	8	1507	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	ATP2B1_ENST00000348959.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	351					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.K351E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AAATTTGCTTTCTTTTTATCT	0.373													21	190	---	---	---	---	0	0
PDS5B	23047	broad.mit.edu	37	13	33252986	33252986	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr13:33252986A>G	ENST00000315596.10	+	10	1163	c.977A>G	c.(976-978)cAt>cGt	p.H326R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	326				H -> N (in Ref. 8; AAH39256).	cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.H326R(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AATGATATCCATGTACCAATC	0.333													17	84	---	---	---	---	0	0
CHD8	57680	broad.mit.edu	37	14	21871248	21871248	+	Silent	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr14:21871248A>G	ENST00000399982.2	-	17	3706	c.3642T>C	c.(3640-3642)ctT>ctC	p.L1214L	CHD8_ENST00000430710.3_Silent_p.L935L|CHD8_ENST00000557364.1_Silent_p.L1214L|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1214	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.L1214L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATTAATACCAAGTCCACCAG	0.483													3	89	---	---	---	---	0	0
OSGIN1	29948	broad.mit.edu	37	16	83998851	83998851	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:83998851T>C	ENST00000343939.2	+	7	1305	c.922T>C	c.(922-924)Ttc>Ctc	p.F308L	OSGIN1_ENST00000361711.3_Missense_Mutation_p.F225L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.F225L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	308					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	p.F308L(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGTGAGCGGCTTCCTGACCAG	0.692													21	69	---	---	---	---	0	0
FXR2	9513	broad.mit.edu	37	17	7495581	7495581	+	Silent	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:7495581T>C	ENST00000250113.7	-	16	2251	c.1917A>G	c.(1915-1917)tcA>tcG	p.S639S	MPDU1_ENST00000423172.2_Intron|FXR2_ENST00000573057.1_5'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	639						cytosolic large ribosomal subunit	protein binding|RNA binding	p.S639S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCTTCTGTCCTGAAAGAGAGT	0.507													3	144	---	---	---	---	0	0
STAT5B	6777	broad.mit.edu	37	17	40362212	40362212	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:40362212G>A	ENST00000293328.3	-	15	2051	c.1883C>T	c.(1882-1884)aCc>aTc	p.T628I		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	628	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	p.T628I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CCAAGCAATGGTGATGCCGCC	0.428													3	86	---	---	---	---	0	0
GIPC3	126326	broad.mit.edu	37	19	3589510	3589510	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:3589510C>A	ENST00000322315.5	+	4	707	c.662C>A	c.(661-663)aCc>aAc	p.T221N		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	221								p.T221N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGGGAGACCCTGCGGCTT	0.612													10	81	---	---	---	---	0	0
ZNF181	339318	broad.mit.edu	37	19	35232275	35232275	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:35232275T>C	ENST00000392232.3	+	6	1289	c.1121T>C	c.(1120-1122)tTt>tCt	p.F374S	ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F266S(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAAAGTCTTTTAGTCGTGTG	0.398													3	168	---	---	---	---	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864642	47864642	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr20:47864642A>G	ENST00000396105.1	-	14	5165	c.4919T>C	c.(4918-4920)cTa>cCa	p.L1640P	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.L1640P	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1640							metal ion binding	p.L1640P(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AATCTCTTCTAGCCGCTGTTT	0.507													42	82	---	---	---	---	0	0
SHOX	6473	broad.mit.edu	37	X	601572	601572	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:601572G>A	ENST00000381578.1	+	4	1194	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	SHOX_ENST00000334060.3_Missense_Mutation_p.R168Q|SHOX_ENST00000554971.1_Missense_Mutation_p.R168Q|SHOX_ENST00000381575.1_Missense_Mutation_p.R168Q	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	168			R -> W (in LMD).		skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R168Q(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCAGAACCGGAGAGCCAAG	0.592													45	137	---	---	---	---	0	0
MID2	11043	broad.mit.edu	37	X	107159358	107159358	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:107159358A>G	ENST00000262843.6	+	6	1748	c.1200A>G	c.(1198-1200)acA>acG	p.T400T	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Splice_Site_p.T400T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	400	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding	p.T380T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATTATTTAACAGGTGTGAAAA	0.274													3	196	---	---	---	---	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337274	144337274	+	Silent	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:144337274G>T	ENST00000370493.3	+	2	918	c.159G>T	c.(157-159)gcG>gcT	p.A53A		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	53								p.A53A(4)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTAGCGTTTTGCTACA	0.433													3	123	---	---	---	---	0	0
DPH2	1802	broad.mit.edu	37	1	44437269	44437269	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:44437269C>G	ENST00000255108.3	+	4	867	c.695C>G	c.(694-696)cCa>cGa	p.P232R	DPH2_ENST00000412950.2_Missense_Mutation_p.P97R|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	232					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GACCTTGACCCAGACCTGAGT	0.622													4	141	---	---	---	---	0	0
SYT11	23208	broad.mit.edu	37	1	155838359	155838359	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:155838359G>C	ENST00000368324.4	+	2	891	c.638G>C	c.(637-639)aGa>aCa	p.R213T	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	213	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.R213T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTGAAGACCAGAGTGCTGCGG	0.572													3	76	---	---	---	---	0	0
EIF5B	9669	broad.mit.edu	37	2	99985894	99985894	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr2:99985894T>C	ENST00000289371.6	+	8	1629	c.1427T>C	c.(1426-1428)aTg>aCg	p.M476T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.M476T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTAGAAGTTATGGAACAAGGA	0.353													7	62	---	---	---	---	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239617	1239617	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr5:1239617T>C	ENST00000324642.3	+	6	908	c.785T>C	c.(784-786)tTc>tCc	p.F262S	SLC6A18_ENST00000296821.4_Missense_Mutation_p.F257S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	262					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCCAGATATTCTTCTCTCTG	0.572													3	150	---	---	---	---	0	0
HGF	3082	broad.mit.edu	37	7	81359036	81359036	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:81359036G>T	ENST00000222390.5	-	8	1151	c.925C>A	c.(925-927)Caa>Aaa	p.Q309K	HGF_ENST00000457544.2_Missense_Mutation_p.Q304K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	309	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.Q309K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCTTCTCCTTGACCTTGGATG	0.398													10	130	---	---	---	---	0	0
FBXO10	26267	broad.mit.edu	37	9	37516001	37516001	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:37516001T>C	ENST00000432825.2	-	10	2644	c.2596A>G	c.(2596-2598)Atc>Gtc	p.I866V	FBXO10_ENST00000541829.1_Missense_Mutation_p.I391V|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	866						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TGGAAGATGATGTTTTCCTGC	0.522													4	141	---	---	---	---	0	0
RNF20	56254	broad.mit.edu	37	9	104314514	104314514	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:104314514A>T	ENST00000389120.3	+	12	1590	c.1500A>T	c.(1498-1500)aaA>aaT	p.K500N		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	500					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.K500N(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATAAGCGGAAATTGAGAGAAG	0.448													7	105	---	---	---	---	0	0
RC3H2	54542	broad.mit.edu	37	9	125613481	125613481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:125613481T>C	ENST00000373670.1	-	19	3859	c.3259A>G	c.(3259-3261)Agt>Ggt	p.S1087G	RC3H2_ENST00000357244.2_Missense_Mutation_p.S1087G			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1087						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	p.S1087G(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTTGAGAACTGATACCAAGC	0.363													7	129	---	---	---	---	0	0
CD248	57124	broad.mit.edu	37	11	66082756	66082756	+	Silent	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:66082756C>T	ENST00000311330.3	-	1	1759	c.1743G>A	c.(1741-1743)caG>caA	p.Q581Q	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	581	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.Q581Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TAATGGGAAGCTGGGTGGCCT	0.632													10	177	---	---	---	---	0	0
ACAT1	38	broad.mit.edu	37	11	108002646	108002646	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:108002646G>T	ENST00000265838.4	+	2	176	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	ACAT1_ENST00000526119.1_3'UTR|ACAT1_ENST00000299355.6_Missense_Mutation_p.V29L	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	29					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	p.V29L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AATAAGATATGTGGAACGGAG	0.229													3	55	---	---	---	---	0	0
RTL1	388015	broad.mit.edu	37	14	101348187	101348187	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr14:101348187T>C	ENST00000534062.1	-	1	2997	c.2939A>G	c.(2938-2940)gAc>gGc	p.D980G		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	980								p.D980G(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTCCATGACGTCAAAGTTGAA	0.557													3	101	---	---	---	---	0	0
CLK3	1198	broad.mit.edu	37	15	74914890	74914890	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr15:74914890G>C	ENST00000395066.3	+	5	1427	c.966G>C	c.(964-966)ttG>ttC	p.L322F	CLK3_ENST00000345005.4_Missense_Mutation_p.L174F|CLK3_ENST00000352989.5_Intron|CLK3_ENST00000348245.3_Missense_Mutation_p.W142S	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	322	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L174F(2)|p.L322F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TGGAGTGCTTGGACCATGCCA	0.567													5	114	---	---	---	---	0	0
TOX3	27324	broad.mit.edu	37	16	52484402	52484402	+	Silent	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr16:52484402C>T	ENST00000219746.9	-	4	749	c.465G>A	c.(463-465)cgG>cgA	p.R155R	TOX3_ENST00000407228.3_Silent_p.R150R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	155					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.R155R(1)|p.R150R(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGACGATGGACCGCATGATCA	0.562													5	102	---	---	---	---	0	0
EPN2	22905	broad.mit.edu	37	17	19235303	19235303	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:19235303G>A	ENST00000314728.5	+	10	2033	c.1549G>A	c.(1549-1551)Gcg>Acg	p.A517T	EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395618.3_Missense_Mutation_p.A232T|EPN2_ENST00000395620.2_Missense_Mutation_p.A460T|EPN2_ENST00000347697.2_Missense_Mutation_p.A460T|EPN2_ENST00000575595.1_Missense_Mutation_p.A225T|EPN2_ENST00000571254.1_Missense_Mutation_p.A453T	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	517	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding	p.A517T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GGGCCCCAACGCGGCCCTGGT	0.627													4	134	---	---	---	---	0	0
SLFN11	91607	broad.mit.edu	37	17	33690215	33690215	+	Silent	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:33690215G>T	ENST00000394566.1	-	4	884	c.612C>A	c.(610-612)atC>atA	p.I204I	SLFN11_ENST00000308377.4_Silent_p.I204I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	204						nucleus	ATP binding	p.I204I(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAAAGGCAGGATTTCACCAT	0.413													7	171	---	---	---	---	0	0
ALPK2	115701	broad.mit.edu	37	18	56246150	56246150	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr18:56246150C>A	ENST00000361673.3	-	4	2071	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	620							ATP binding|protein serine/threonine kinase activity	p.D620Y(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAGACTGAGTCTGTTGAAGTT	0.473											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	160	---	---	---	---	0	0
ZNF813	126017	broad.mit.edu	37	19	53993763	53993763	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr19:53993763G>C	ENST00000396403.4	+	4	405	c.277G>C	c.(277-279)Gat>Cat	p.D93H	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	93			D -> V (in dbSNP:rs12609217).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D93H(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AATTGATAAAGATATTCATAA	0.398													11	145	---	---	---	---	0	0
KCNG1	3755	broad.mit.edu	37	20	49620863	49620863	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr20:49620863C>A	ENST00000371571.4	-	3	1540	c.1255G>T	c.(1255-1257)Gtc>Ttc	p.V419F	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	419						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V419F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATGGTGATGACAGCCCACCAG	0.647													5	81	---	---	---	---	0	0
DKC1	1736	broad.mit.edu	37	X	153994551	153994551	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chrX:153994551G>C	ENST00000369550.5	+	5	534	c.324G>C	c.(322-324)tgG>tgC	p.W108C		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	108					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	p.W108C(2)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGTAGCCTGGATTCGACGGA	0.478									Congenital Dyskeratosis				5	59	---	---	---	---	0	0
HFM1	164045	broad.mit.edu	37	1	91843738	91843738	+	Silent	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:91843738T>A	ENST00000370425.3	-	11	1337	c.1239A>T	c.(1237-1239)gtA>gtT	p.V413V	HFM1_ENST00000370424.3_Silent_p.V92V|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	413	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.V413V(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTACAATATGTACCTAAGCAG	0.274													5	89	---	---	---	---	0	0
THUMPD2	80745	broad.mit.edu	37	2	39982551	39982551	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:39982551T>A	ENST00000505747.1	-	8	991		c.e8-2		THUMPD2_ENST00000260619.6_Splice_Site	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2								methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				ATACACATCCTATGGGGAAAT	0.323													4	77	---	---	---	---	0	0
KDM3A	55818	broad.mit.edu	37	2	86705343	86705343	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:86705343C>T	ENST00000409556.1	+	15	2508	c.2143C>T	c.(2143-2145)Cat>Tat	p.H715Y	KDM3A_ENST00000542128.1_Missense_Mutation_p.H663Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.H715Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.H715Y			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	715					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.H715Y(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAGTCAGATACATGAACCAGA	0.408													27	159	---	---	---	---	0	0
IL1RL2	8808	broad.mit.edu	37	2	102842427	102842427	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:102842427A>T	ENST00000264257.2	+	9	1187	c.1061A>T	c.(1060-1062)tAc>tTc	p.Y354F	IL1RL2_ENST00000539491.1_Missense_Mutation_p.Y354F|IL1RL2_ENST00000441515.2_Missense_Mutation_p.Y236F|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	354					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.Y236F(1)|p.Y354F(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCTGTTGTGTACATATACAAC	0.383													5	82	---	---	---	---	0	0
LY75	4065	broad.mit.edu	37	2	160688257	160688257	+	Silent	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:160688257C>T	ENST00000263636.4	-	28	3909	c.3882G>A	c.(3880-3882)gaG>gaA	p.E1294E	LY75_ENST00000554112.1_Silent_p.E1294E|LY75-CD302_ENST00000505052.1_Silent_p.E1294E|LY75_ENST00000553424.1_Silent_p.E1294E|LY75-CD302_ENST00000504764.1_Silent_p.E1294E	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.E1294E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CAAAGTTATTCTCCTTTTCAT	0.294													6	165	---	---	---	---	0	0
TMEM198	130612	broad.mit.edu	37	2	220414063	220414063	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:220414063A>G	ENST00000344458.2	+	5	1517	c.932A>G	c.(931-933)gAc>gGc	p.D311G	TMEM198_ENST00000373883.3_Missense_Mutation_p.D311G			Q66K66	TM198_HUMAN	transmembrane protein 198	311						integral to membrane		p.D311G(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TTCAATGGAGACGTCCTCTCC	0.632													3	61	---	---	---	---	0	0
CNTN6	27255	broad.mit.edu	37	3	1427451	1427451	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:1427451C>T	ENST00000446702.2	+	20	3301	c.2674C>T	c.(2674-2676)Ccc>Tcc	p.P892S	CNTN6_ENST00000350110.2_Missense_Mutation_p.P892S|CNTN6_ENST00000539053.1_Missense_Mutation_p.P820S			Q9UQ52	CNTN6_HUMAN	contactin 6	892	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.P892S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCCCTCAAGCCCCCCAGTCAA	0.453													7	240	---	---	---	---	0	0
DAG1	1605	broad.mit.edu	37	3	49570280	49570280	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:49570280G>A	ENST00000545947.1	+	6	3058	c.2336G>A	c.(2335-2337)cGg>cAg	p.R779Q	DAG1_ENST00000539901.1_Missense_Mutation_p.R779Q|DAG1_ENST00000308775.2_Missense_Mutation_p.R779Q|DAG1_ENST00000515359.2_Missense_Mutation_p.R779Q|DAG1_ENST00000538711.1_Missense_Mutation_p.R779Q|DAG1_ENST00000541308.1_Missense_Mutation_p.R779Q	NM_001177634.2	NP_001171105	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	779					cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	p.R779Q(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGCAAGAAGCGGAAGGGCAAG	0.572													3	62	---	---	---	---	0	0
SPATA12	353324	broad.mit.edu	37	3	57108293	57108293	+	Nonstop_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:57108293T>A	ENST00000334325.1	+	2	1246	c.571T>A	c.(571-573)Taa>Aaa	p.*191K	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	0										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CACACATCTGTAATCAATAAT	0.512													7	233	---	---	---	---	0	0
WDR52	55779	broad.mit.edu	37	3	113152410	113152410	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:113152410A>T	ENST00000393845.2	-	2	167		c.e2+1		WDR52_ENST00000295868.2_Splice_Site|WDR52-AS1_ENST00000498480.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52									p.?(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATCTTTACTTACATCTTGATT	0.299													8	206	---	---	---	---	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161343	141161343	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:141161343T>C	ENST00000514251.1	+	4	392	c.113T>C	c.(112-114)aTt>aCt	p.I38T	ZBTB38_ENST00000321464.5_Missense_Mutation_p.I39T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I38T			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	38	BTB.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I38T(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTCACTATCATTGTGGAAGAT	0.428													10	387	---	---	---	---	0	0
EPHA5	2044	broad.mit.edu	37	4	66356112	66356112	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:66356112A>T	ENST00000273854.3	-	5	1985	c.1385T>A	c.(1384-1386)gTa>gAa	p.V462E	EPHA5_ENST00000511294.1_Missense_Mutation_p.V462E|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V462E	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	462					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.V462E(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATTTGTGGTTACATTTACAGA	0.473										TSP Lung(17;0.13)			6	91	---	---	---	---	0	0
CSN1S1	0	broad.mit.edu	37	4	70798273	70798273	+	Translation_Start_Site	SNP	C	C	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:70798273C>A	ENST00000246891.4	+	0	49				CSN1S1_ENST00000507763.1_De_novo_Start_InFrame|CSN1S1_ENST00000505782.1_5'Flank|CSN1S1_ENST00000444405.3_De_novo_Start_InFrame|CSN1S1_ENST00000507772.1_5'Flank	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1							extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CTCTGATAACCATGAGGCTTC	0.353													4	21	---	---	---	---	0	0
UFL1	23376	broad.mit.edu	37	6	96974309	96974309	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr6:96974309C>G	ENST00000369278.4	+	5	529	c.463C>G	c.(463-465)Cag>Gag	p.Q155E		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	155	Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										CTTTCTGACACAGGTATTTTT	0.368													4	150	---	---	---	---	0	0
SYNE1	23345	broad.mit.edu	37	6	152536125	152536125	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr6:152536125G>A	ENST00000367255.5	-	122	22863	c.22262C>T	c.(22261-22263)cCc>cTc	p.P7421L	SYNE1_ENST00000341594.5_Missense_Mutation_p.P7033L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7421L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P1945L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7421					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.P7421L(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCATTCAAGGGTAACCTATA	0.398										HNSCC(10;0.0054)			13	269	---	---	---	---	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138437474	138437474	+	Silent	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr7:138437474G>A	ENST00000310018.2	-	11	1207	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	ATP6V0A4_ENST00000353492.4_Silent_p.L309L|ATP6V0A4_ENST00000393054.1_Silent_p.L309L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	309					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.L309L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACATGTTCAGGATGTGGTAG	0.572													4	137	---	---	---	---	0	0
BTBD10	84280	broad.mit.edu	37	11	13424827	13424827	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:13424827T>A	ENST00000278174.5	-	8	1252		c.e8-2		BTBD10_ENST00000530907.1_Splice_Site|BTBD10_ENST00000528120.1_Splice_Site	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10							nucleus		p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TATAAATAACTAGAAACAAAA	0.294													8	192	---	---	---	---	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195494	18195494	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:18195494C>T	ENST00000314254.3	+	1	1111	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	231						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P231S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGCGGCCTGCCCTTCGGCAT	0.532													21	99	---	---	---	---	0	0
UEVLD	55293	broad.mit.edu	37	11	18579845	18579845	+	Silent	SNP	G	G	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:18579845G>C	ENST00000396197.3	-	7	673	c.645C>G	c.(643-645)ctC>ctG	p.L215L	UEVLD_ENST00000543987.1_Silent_p.L215L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Silent_p.L115L|UEVLD_ENST00000320750.6_Silent_p.L193L|UEVLD_ENST00000535484.1_Silent_p.L177L|UEVLD_ENST00000379387.4_Silent_p.L193L	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	215					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	p.L215L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCCCTTCTGAGAGGTCTAAGA	0.413													7	106	---	---	---	---	0	0
SCAF11	9169	broad.mit.edu	37	12	46322640	46322640	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:46322640T>A	ENST00000369367.3	-	11	1077	c.844A>T	c.(844-846)Act>Tct	p.T282S	SCAF11_ENST00000549162.1_Missense_Mutation_p.T90S|SCAF11_ENST00000419565.2_Missense_Mutation_p.T282S|SCAF11_ENST00000465950.1_5'UTR	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	282					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.T282S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTGCAAGAAGTACCtaataat	0.308													6	123	---	---	---	---	0	0
DIP2B	57609	broad.mit.edu	37	12	51089055	51089055	+	Silent	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:51089055A>T	ENST00000301180.5	+	15	1759	c.1725A>T	c.(1723-1725)gtA>gtT	p.V575V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	575						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCAGAATGTAATGAATAAGA	0.333													7	234	---	---	---	---	0	0
TIMELESS	8914	broad.mit.edu	37	12	56811998	56811998	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:56811998T>C	ENST00000229201.4	-	27	3525	c.3371A>G	c.(3370-3372)cAc>cGc	p.H1124R	TIMELESS_ENST00000553532.1_Missense_Mutation_p.H1125R|TIMELESS_ENST00000554616.1_Missense_Mutation_p.H622R	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1125					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.H1125R(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTCTTTACAGTGCTCCTCATC	0.582													90	562	---	---	---	---	0	0
RNF17	56163	broad.mit.edu	37	13	25376711	25376711	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.?(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTAGCAAAGTAAGTAACTTA	0.323													8	170	---	---	---	---	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767606	41767606	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr13:41767606T>C	ENST00000379483.3	-	1	1096	c.788A>G	c.(787-789)aAg>aGg	p.K263R		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	263							protein binding	p.K263R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCGCACGCACTTGAAGACTTC	0.537													4	114	---	---	---	---	0	0
THBS1	7057	broad.mit.edu	37	15	39874829	39874829	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:39874829A>G	ENST00000260356.5	+	3	668	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	168	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.Y168C(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCCCAGCTGTACATCGACTGT	0.562													5	84	---	---	---	---	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827082	43827082	+	Silent	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:43827082G>A	ENST00000420765.1	-	31	4274	c.4092C>T	c.(4090-4092)acC>acT	p.T1364T	PPIP5K1_ENST00000381879.4_Silent_p.T1340T|PPIP5K1_ENST00000381885.1_Silent_p.T1360T|PPIP5K1_ENST00000396923.3_Silent_p.T1364T|PPIP5K1_ENST00000334933.4_Silent_p.T1339T|PPIP5K1_ENST00000360135.4_Silent_p.T1337T|PPIP5K1_ENST00000360301.4_Silent_p.T1339T|PPIP5K1_ENST00000348806.6_Silent_p.T1337T	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1364					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.T1364T(1)		large_intestine(1)	1						CTTCTACAAGGGTTTCCTGGA	0.577													8	217	---	---	---	---	0	0
MYH8	4626	broad.mit.edu	37	17	10310244	10310244	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr17:10310244A>G	ENST00000403437.2	-	18	2112	c.2018T>C	c.(2017-2019)gTa>gCa	p.V673A	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	673	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.V673A(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GATACACCGTACGAAGTGAGG	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				22	126	---	---	---	---	0	0
ROCK1	6093	broad.mit.edu	37	18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr18:18586746T>A	ENST00000399799.2	-	15	2492	c.1552A>T	c.(1552-1554)Aca>Tca	p.T518S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.T518S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTTTAATGTAGAAACTAGA	0.308													7	202	---	---	---	---	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456787	5456787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr19:5456787C>T	ENST00000222033.4	+	1	1362	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	429						integral to membrane	zinc ion binding	p.Q429*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCCCCTGGTCAGTAAAGATC	0.582													9	37	---	---	---	---	0	0
SLC6A16	28968	broad.mit.edu	37	19	49812329	49812329	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr19:49812329G>T	ENST00000454748.3	-	7	1234	c.1033C>A	c.(1033-1035)Caa>Aaa	p.Q345K	SLC6A16_ENST00000335875.4_Missense_Mutation_p.Q345K			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	345						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.Q345K(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GACAAAACTTGACCCCCTGCT	0.483													8	279	---	---	---	---	0	0
SYNJ1	8867	broad.mit.edu	37	21	34066614	34066614	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr21:34066614T>A	ENST00000382499.2	-	6	829	c.830A>T	c.(829-831)tAc>tTc	p.Y277F	SYNJ1_ENST00000322229.7_Missense_Mutation_p.Y238F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Y277F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	238	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCATCTAAGTACACAACCTA	0.323													4	73	---	---	---	---	0	0
CSTB	1476	broad.mit.edu	37	21	45194208	45194208	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr21:45194208G>A	ENST00000291568.5	-	3	347	c.172C>T	c.(172-174)Cac>Tac	p.H58Y		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	58						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding	p.H58Y(1)		lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TCGCCGACGTGCACCTGGGAA	0.537													21	118	---	---	---	---	0	0
VSIG4	11326	broad.mit.edu	37	X	65252421	65252421	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chrX:65252421T>C	ENST00000455586.2	-	3	709	c.583A>G	c.(583-585)Acc>Gcc	p.T195A	VSIG4_ENST00000374737.4_Missense_Mutation_p.T195A|VSIG4_ENST00000412866.2_Intron	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	195	Ig-like 2.				complement activation, alternative pathway	integral to membrane	protein binding	p.T195A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGAGTAAGGTACTTAGGGTT	0.498													6	66	---	---	---	---	0	0
INADL	10207	broad.mit.edu	37	1	62614008	62614008	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:62614008C>G	ENST00000371158.2	+	42	5438	c.5324C>G	c.(5323-5325)tCt>tGt	p.S1775C		NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1775					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.S1775C(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAAAACATGTCTACAGGCTAC	0.448													8	301	---	---	---	---	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209948722	209948722	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:209948722T>A	ENST00000367024.1	+	10	1319	c.803T>A	c.(802-804)gTa>gAa	p.V268E	TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.V268E|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.V248E			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	268						integral to membrane	protein binding	p.V248E(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		ATGAAAAAAGTACTACTGGAG	0.428													10	35	---	---	---	---	0	0
PUM2	23369	broad.mit.edu	37	2	20490511	20490511	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:20490511T>C	ENST00000361078.2	-	9	1215	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	PUM2_ENST00000403432.1_Missense_Mutation_p.N398S|PUM2_ENST00000536417.1_Missense_Mutation_p.N342S|PUM2_ENST00000319801.5_Missense_Mutation_p.N398S|PUM2_ENST00000338086.5_Missense_Mutation_p.N398S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	398	Ala-rich.|Gln-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.N398S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACCCTGATTGGGAGTAAG	0.443													10	123	---	---	---	---	0	0
EPC2	26122	broad.mit.edu	37	2	149526724	149526724	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:149526724T>G	ENST00000258484.6	+	8	1179	c.1145T>G	c.(1144-1146)tTg>tGg	p.L382W		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	382					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.L382W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GTCTAGGTATTGTCCCCAGTA	0.378													5	33	---	---	---	---	0	0
COL5A2	1290	broad.mit.edu	37	2	189918665	189918665	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:189918665C>A	ENST00000374866.3	-	37	2729	c.2455G>T	c.(2455-2457)Ggt>Tgt	p.G819C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	819					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G819C(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTCGAGGACCAGGTTCACCC	0.423													3	50	---	---	---	---	0	0
ULK4	54986	broad.mit.edu	37	3	41949428	41949428	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr3:41949428C>A	ENST00000301831.4	-	12	1553	c.1091G>T	c.(1090-1092)cGt>cTt	p.R364L	ULK4_ENST00000420927.1_Missense_Mutation_p.R364L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	364							ATP binding|protein serine/threonine kinase activity	p.R364L(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGGAGTAGGACGAGAACTGAA	0.408													29	83	---	---	---	---	0	0
FAM13B	0	broad.mit.edu	37	5	137277736	137277736	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:137277736T>C	ENST00000033079.3	-	22	2974		c.e22-2		PKD2L2_ENST00000508883.1_Intron|FAM13B_ENST00000420893.2_Splice_Site|FAM13B_ENST00000425075.2_Splice_Site	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.?(1)		endometrium(4)|kidney(2)|lung(5)	11						AATTCAGGCCTAGAATTGAAA	0.368													3	118	---	---	---	---	0	0
PCDHB8	0	broad.mit.edu	37	5	140558062	140558062	+	Silent	SNP	T	T	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:140558062T>A	ENST00000239444.2	+	1	692	c.447T>A	c.(445-447)ccT>ccA	p.P149P		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		149	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P149P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGTCCTCCTGGGACTGCGT	0.413													91	395	---	---	---	---	0	0
PCDHGB7	0	broad.mit.edu	37	5	140798265	140798265	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:140798265C>T	ENST00000398594.2	+	1	839	c.839C>T	c.(838-840)tCc>tTc	p.S280F	PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1												p.S280F(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTTATTCCTTCTTTGGT	0.493													30	43	---	---	---	---	0	0
TNXB	7148	broad.mit.edu	37	6	32018029	32018029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:32018029C>T	ENST00000375244.3	-	27	9386	c.9185G>A	c.(9184-9186)cGc>cAc	p.R3062H	TNXB_ENST00000375247.2_Missense_Mutation_p.R3060H			P22105	TENX_HUMAN	tenascin XB	3107	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R3127H(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGGCGAGGCTTGAT	0.627													42	85	---	---	---	---	0	0
COL11A2	1302	broad.mit.edu	37	6	33135619	33135619	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:33135619C>A	ENST00000341947.2	-	55	4198	c.3971G>T	c.(3970-3972)gGc>gTc	p.G1324V	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1303V|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1238V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1277V|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1217V|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1264V|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1298V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1243V	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1324	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.G1324V(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCAGGCGAGCCAGCAGGACC	0.637													3	37	---	---	---	---	0	0
DAAM2	23500	broad.mit.edu	37	6	39828787	39828787	+	Silent	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:39828787G>A	ENST00000538976.1	+	3	434	c.252G>A	c.(250-252)aaG>aaA	p.K84K	DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000398904.2_Silent_p.K84K|DAAM2_ENST00000405961.3_Silent_p.K84K|DAAM2_ENST00000274867.4_Silent_p.K84K	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	84	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.K84K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACTGCAGCAAGAAGAAGGTGC	0.502													7	22	---	---	---	---	0	0
NKX3-1	4824	broad.mit.edu	37	8	23539003	23539003	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr8:23539003G>C	ENST00000380871.4	-	2	473	c.436C>G	c.(436-438)Cag>Gag	p.Q146E	NKX3-1_ENST00000523261.1_Missense_Mutation_p.Q71E	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	146					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	p.Q146E(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		AGGTACTTCTGATGGCTGAAC	0.572													5	308	---	---	---	---	0	0
CSPP1	79848	broad.mit.edu	37	8	68007736	68007736	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr8:68007736T>C	ENST00000262210.5	+	6	750	c.719T>C	c.(718-720)aTt>aCt	p.I240T	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	275						centrosome|microtubule|spindle		p.I240T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATAGAAGAATTATTAAAAAA	0.373													4	161	---	---	---	---	0	0
TTC18	118491	broad.mit.edu	37	10	75072385	75072385	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr10:75072385C>T	ENST00000310715.3	-	11	1259	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.S380N|TTC18_ENST00000401621.2_Missense_Mutation_p.S380N	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	380							binding	p.S380N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCGGAACAAGCTCAATAAACA	0.294													9	292	---	---	---	---	0	0
ZBTB3	79842	broad.mit.edu	37	11	62519844	62519844	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr11:62519844G>C	ENST00000394807.3	-	2	1568	c.1443C>G	c.(1441-1443)ttC>ttG	p.F481L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AAGAGCATGAGAAGGTCTTCC	0.552													16	106	---	---	---	---	0	0
TAF1D	79101	broad.mit.edu	37	11	93471531	93471531	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr11:93471531G>A	ENST00000448108.2	-	3	853	c.203C>T	c.(202-204)tCa>tTa	p.S68L		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S68L(1)		large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TTCAAAAGATGAGTCACTTGA	0.363													93	178	---	---	---	---	0	0
KRT6C	286887	broad.mit.edu	37	12	52864359	52864359	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:52864359T>A	ENST00000252250.6	-	6	1180	c.1133A>T	c.(1132-1134)aAg>aTg	p.K378M		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	378	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.K378M(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AATCTCCTGCTTGGTGTTGCG	0.552													18	181	---	---	---	---	0	0
SLC6A15	55117	broad.mit.edu	37	12	85266407	85266407	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:85266407A>T	ENST00000266682.5	-	8	1817	c.1276T>A	c.(1276-1278)Tgt>Agt	p.C426S	SLC6A15_ENST00000552192.1_Missense_Mutation_p.C319S|SLC6A15_ENST00000309283.7_Missense_Mutation_p.C134S	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	426					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.C426S(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCAATTTTACAGGAATTGAGA	0.318													4	159	---	---	---	---	0	0
TPCN1	53373	broad.mit.edu	37	12	113733848	113733848	+	Silent	SNP	A	A	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:113733848A>T	ENST00000550785.1	+	29	2803	c.2634A>T	c.(2632-2634)ccA>ccT	p.P878P	TPCN1_ENST00000541517.1_Silent_p.P878P|TPCN1_ENST00000392569.4_Silent_p.P738P|TPCN1_ENST00000335509.6_Silent_p.P806P	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	806						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.P806P(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AGCAGCCCCCAGGCAGCCGCC	0.597													23	41	---	---	---	---	0	0
TMEM132B	114795	broad.mit.edu	37	12	126068419	126068419	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:126068419C>T	ENST00000299308.3	+	5	1309	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	434						integral to membrane		p.A434V(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTGAACACTGCCATTCTCACT	0.542													8	476	---	---	---	---	0	0
AMDHD2	51005	broad.mit.edu	37	16	2570856	2570856	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr16:2570856A>G	ENST00000302956.4	+	2	264	c.170A>G	c.(169-171)gAc>gGc	p.D57G	AMDHD2_ENST00000293971.6_Missense_Mutation_p.D57G|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.D57G			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	57					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	p.D57G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GAGCGGCGGGACTGCGGGGGC	0.692													5	21	---	---	---	---	0	0
CENPT	80152	broad.mit.edu	37	16	67865092	67865092	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr16:67865092G>C	ENST00000445712.2	-	6	667	c.421C>G	c.(421-423)Ctt>Gtt	p.L141V	CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562787.1_Intron|CENPT_ENST00000440851.2_Intron|CENPT_ENST00000562947.1_Intron|CENPT_ENST00000219172.3_Intron			Q96BT3	CENPT_HUMAN	centromere protein T	0					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TTTCCCCAAAGGCCAGCAGGG	0.592													29	259	---	---	---	---	0	0
FOXA3	3171	broad.mit.edu	37	19	46375689	46375689	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr19:46375689A>T	ENST00000302177.2	+	2	623	c.426A>T	c.(424-426)gaA>gaT	p.E142D		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	142					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.E142D(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCTTGAGTGAAATCTACCAGT	0.567													18	257	---	---	---	---	0	0
ZNF534	147658	broad.mit.edu	37	19	52937267	52937267	+	Silent	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr19:52937267G>A	ENST00000332323.6	+	2	136	c.75G>A	c.(73-75)ctG>ctA	p.L25L	ZNF534_ENST00000432303.2_Silent_p.L25L|ZNF534_ENST00000433050.1_Silent_p.L25L|ZNF534_ENST00000301085.4_Silent_p.L25L	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L25L(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GGAAATGCCTGGACCCTGGGC	0.478													57	116	---	---	---	---	0	0
TPTE	7179	broad.mit.edu	37	21	10908828	10908828	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr21:10908828T>G	ENST00000298232.7	-	22	1830	c.1463A>C	c.(1462-1464)aAc>aCc	p.N488T	TPTE_ENST00000361285.4_Missense_Mutation_p.N506T|TPTE_ENST00000342420.5_Missense_Mutation_p.N468T|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	506	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.N488T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCATACCTGTTATTTTCAAT	0.294													4	129	---	---	---	---	0	0
PRR5	55615	broad.mit.edu	37	22	45128196	45128196	+	Silent	SNP	G	G	C			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr22:45128196G>C	ENST00000403581.1	+	8	1158	c.549G>C	c.(547-549)gtG>gtC	p.V183V	PRR5_ENST00000006251.7_Silent_p.V151V|ARHGAP8_ENST00000517296.3_Silent_p.V160V|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_Silent_p.V160V|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V160V	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)									p.V160V(1)|p.V151V(1)		central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CCCTCAGTGTGAAGCTAGAGG	0.682													3	120	---	---	---	---	0	0
FAM127A	8933	broad.mit.edu	37	X	134166693	134166693	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chrX:134166693T>A	ENST00000257013.7	+	1	361	c.280T>A	c.(280-282)Tac>Aac	p.Y94N	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	94								p.Y94N(1)		endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCTCAATGATTACCGGGGCTT	0.642													29	16	---	---	---	---	0	0
MT-RNR2	0	broad.mit.edu	37	M	3061	3061	+	RNA	SNP	G	G	A			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chrM:3061G>A	ENST00000387347.2	+	0	1391					NR_039705.1																						TTAAAGTCCTACGTGATCTGA	0.443													2	1	---	---	---	---	0	0
LRRC7	57554	broad.mit.edu	37	1	70502287	70502287	+	Silent	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:70502287T>C	ENST00000310961.5	+	21	2587	c.2169T>C	c.(2167-2169)caT>caC	p.H723H	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Silent_p.H718H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	718						centrosome|focal adhesion|nucleolus	protein binding	p.H718H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATGCAGTACATAATTCTTTGT	0.413													7	169	---	---	---	---	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273385	145273385	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:145273385G>A	ENST00000369340.3	+	4	683	c.239G>A	c.(238-240)gGc>gAc	p.G80D	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	p.G80D(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGAATGGCGGCACATGCCAT	0.532													7	493	---	---	---	---	0	0
HRNR	388697	broad.mit.edu	37	1	152191256	152191256	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:152191256C>T	ENST00000368801.2	-	3	2924	c.2849G>A	c.(2848-2850)gGc>gAc	p.G950D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	950					keratinization		calcium ion binding|protein binding	p.G950D(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTGAGCCAGATCCATG	0.547													265	245	---	---	---	---	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469138	25469138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:25469138C>T	ENST00000264709.3	-	11	1657	c.1320G>A	c.(1318-1320)tgG>tgA	p.W440*	DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W251*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W217*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W440*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	440					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.W440*(1)|p.W251*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTTCCACCCACATGTCCG	0.547			"""Mis, F, N, S"""		AML								61	146	---	---	---	---	0	0
BRE	9577	broad.mit.edu	37	2	28117448	28117448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:28117448C>T	ENST00000344773.2	+	2	163	c.25C>T	c.(25-27)Cga>Tga	p.R9*	BRE_ENST00000361704.2_Nonsense_Mutation_p.R9*|BRE_ENST00000379632.2_Nonsense_Mutation_p.R9*|BRE_ENST00000342045.2_Nonsense_Mutation_p.R9*|BRE_ENST00000379624.1_Nonsense_Mutation_p.R9*|BRE_ENST00000603461.1_Intron	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	9					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.R9*(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GGCCTTGAACCGAATATCTCC	0.418													80	268	---	---	---	---	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413151	121413151	+	Silent	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:121413151T>C	ENST00000393667.3	-	13	6329	c.6219A>G	c.(6217-6219)gaA>gaG	p.E2073E	GOLGB1_ENST00000340645.5_Silent_p.E2068E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2068					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E2068E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTTGCGGTGTTCAACTGCTT	0.403													4	317	---	---	---	---	0	0
BCL6	604	broad.mit.edu	37	3	187451335	187451335	+	Silent	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:187451335G>A	ENST00000406870.2	-	3	513	c.147C>T	c.(145-147)gtC>gtT	p.V49V	RP11-211G3.3_ENST00000449623.1_Silent_p.R51R|BCL6_ENST00000232014.4_Silent_p.V49V|BCL6_ENST00000450123.2_Silent_p.V49V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	49	BTB.				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V49V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGCCATGAGGACCGTTTTAT	0.507			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								11	190	---	---	---	---	0	0
WDFY3	23001	broad.mit.edu	37	4	85603587	85603587	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr4:85603587G>A	ENST00000322366.6	-	63	10119	c.9712C>T	c.(9712-9714)Cca>Tca	p.P3238S	WDFY3_ENST00000295888.4_Missense_Mutation_p.P3255S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3255						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.P3255S(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAGGAGCTGGTGTTTCAGGA	0.318													21	75	---	---	---	---	0	0
RASGRF2	5924	broad.mit.edu	37	5	80513248	80513248	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:80513248A>C	ENST00000265080.4	+	25	3575	c.3508A>C	c.(3508-3510)Aac>Cac	p.N1170H	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1170	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.N1170H(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGGAACACCAAACTTTACTGA	0.403													13	217	---	---	---	---	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623671	46623671	+	Silent	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr6:46623671C>A	ENST00000371347.5	+	2	450	c.198C>A	c.(196-198)gcC>gcA	p.A66A	SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Silent_p.A66A	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	66					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		p.A66A(1)		central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAGAATCTGCCCCCTATAGGG	0.502													4	140	---	---	---	---	0	0
ABCA13	154664	broad.mit.edu	37	7	48315047	48315047	+	Silent	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr7:48315047C>T	ENST00000435803.1	+	17	5808	c.5784C>T	c.(5782-5784)gtC>gtT	p.V1928V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1928					transport	integral to membrane	ATP binding|ATPase activity	p.V1928V(2)|p.V1873V(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACCGTTTGTCCCACCTTCAA	0.363													88	250	---	---	---	---	0	0
LRRC17	10234	broad.mit.edu	37	7	102574825	102574825	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr7:102574825G>C	ENST00000249377.4	+	2	746	c.465G>C	c.(463-465)ttG>ttC	p.L155F	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.L155F|FBXL13_ENST00000436908.1_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	155					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		p.L155F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						CACCTCTCTTGAGCTACCTGC	0.458													41	120	---	---	---	---	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136324223	136324223	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr9:136324223G>A	ENST00000371929.3	+	29	4649	c.4205G>A	c.(4204-4206)cGg>cAg	p.R1402Q	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1315Q|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R198Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1346Q|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1402	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.R1402Q(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCAGCCTGCGGGGCCAGTAC	0.587													7	26	---	---	---	---	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940278	70940278	+	Silent	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:70940278C>T	ENST00000359655.4	+	1	291	c.231C>T	c.(229-231)gaC>gaT	p.D77D	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	77					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	p.D77D(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAGCGCCGACGGCGACGTCG	0.652													31	78	---	---	---	---	0	0
IFIT1	3434	broad.mit.edu	37	10	91162072	91162072	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:91162072C>A	ENST00000371804.3	+	2	207	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	IFIT1_ENST00000546318.1_5'UTR|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	14					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	p.L14M(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CAAGGATAGTCTGGAGCAATT	0.353													17	144	---	---	---	---	0	0
OR4A15	81328	broad.mit.edu	37	11	55135714	55135714	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:55135714A>T	ENST00000314706.3	+	1	355	c.355A>T	c.(355-357)Acc>Tcc	p.T119S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T119S(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGAGAAAAAGACCATTTCCTT	0.388													11	364	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108180931	108180931	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:108180931T>C	ENST00000278616.4	+	39	6192	c.5807T>C	c.(5806-5808)tTa>tCa	p.L1936S	ATM_ENST00000452508.2_Missense_Mutation_p.L1936S|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1936					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.L1936S(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGGCTGGATTTAAATTATCTA	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			37	91	---	---	---	---	0	0
USP28	57646	broad.mit.edu	37	11	113704218	113704218	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:113704218G>C	ENST00000003302.4	-	7	751	c.683C>G	c.(682-684)tCa>tGa	p.S228*	USP28_ENST00000545540.1_Nonsense_Mutation_p.S103*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Nonsense_Mutation_p.S228*|USP28_ENST00000537706.1_Nonsense_Mutation_p.S228*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	228					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S228*(2)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTTTCTATTTGATCCCATCAT	0.383													5	123	---	---	---	---	0	0
OTOGL	283310	broad.mit.edu	37	12	80750271	80750271	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:80750271C>G	ENST00000458043.2	+	47	5861	c.5855C>G	c.(5854-5856)cCt>cGt	p.P1952R	OTOGL_ENST00000547103.1_Missense_Mutation_p.P1940R|OTOGL_ENST00000546620.1_5'UTR	NM_173591.3	NP_775862.3			otogelin-like									p.P395A(2)|p.P1952R(1)|p.P317R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGCCACAGTCCTCTTTCTTGC	0.328													22	99	---	---	---	---	0	0
ISCU	23479	broad.mit.edu	37	12	108958127	108958127	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:108958127C>A	ENST00000535729.1	+	2	209	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	ISCU_ENST00000392807.4_Missense_Mutation_p.L38M|ISCU_ENST00000539593.1_Missense_Mutation_p.L63M|ISCU_ENST00000547005.1_Missense_Mutation_p.L63M|ISCU_ENST00000431221.2_Missense_Mutation_p.L63M|ISCU_ENST00000311893.9_Missense_Mutation_p.L63M|ISCU_ENST00000338291.4_Missense_Mutation_p.L38M			Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	63					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	p.L38M(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						TGGAACTGGACTGGTGGGGGC	0.373													22	78	---	---	---	---	0	0
MYH7	4625	broad.mit.edu	37	14	23885344	23885344	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:23885344G>A	ENST00000355349.3	-	34	4984	c.4822C>T	c.(4822-4824)Cgc>Tgc	p.R1608C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1608					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1608C(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTCGTTGCGGCTGCGTGTC	0.622													58	118	---	---	---	---	0	0
NUMB	8650	broad.mit.edu	37	14	73743464	73743464	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:73743464T>G	ENST00000556772.1	-	7	3633	c.1346A>C	c.(1345-1347)gAt>gCt	p.D449A	NUMB_ENST00000355058.3_Missense_Mutation_p.D593A|NUMB_ENST00000555738.2_Missense_Mutation_p.D436A|NUMB_ENST00000555394.1_Missense_Mutation_p.D545A|NUMB_ENST00000554546.1_Missense_Mutation_p.D534A|NUMB_ENST00000560335.1_Missense_Mutation_p.D447A|NUMB_ENST00000356296.4_Missense_Mutation_p.D545A|NUMB_ENST00000554521.2_Missense_Mutation_p.D387A|NUMB_ENST00000557597.1_Missense_Mutation_p.D582A|NUMB_ENST00000535282.1_Missense_Mutation_p.D582A|NUMB_ENST00000544991.3_Missense_Mutation_p.D398A|NUMB_ENST00000454166.4_Missense_Mutation_p.D447A|NUMB_ENST00000559312.1_Missense_Mutation_p.D398A|NUMB_ENST00000555238.1_Missense_Mutation_p.D593A|NUMB_ENST00000359560.3_Missense_Mutation_p.D582A			P49757	NUMB_HUMAN	numb homolog (Drosophila)	593					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.D593A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CCTGCCATCATCTACACCATT	0.527													17	36	---	---	---	---	0	0
EML5	161436	broad.mit.edu	37	14	89168815	89168815	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:89168815A>G	ENST00000554922.1	-	14	2461	c.2213T>C	c.(2212-2214)tTg>tCg	p.L738S	EML5_ENST00000380664.5_Missense_Mutation_p.L738S|EML5_ENST00000352093.5_Missense_Mutation_p.L738S	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	738						cytoplasm|microtubule		p.L738S(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTAGTCTTTCAAAGGATGAAT	0.388													8	58	---	---	---	---	0	0
DMXL2	23312	broad.mit.edu	37	15	51750826	51750826	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:51750826T>C	ENST00000251076.5	-	35	8298		c.e35-2		RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000449909.3_Splice_Site|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000543779.2_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction|synaptic vesicle membrane	Rab GTPase binding	p.?(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACAATTTGCCTATAAAGCAAA	0.348													32	79	---	---	---	---	0	0
UACA	55075	broad.mit.edu	37	15	70960502	70960502	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:70960502T>C	ENST00000322954.6	-	16	2706	c.2521A>G	c.(2521-2523)Ata>Gta	p.I841V	UACA_ENST00000379983.2_Missense_Mutation_p.I828V|UACA_ENST00000560441.1_Missense_Mutation_p.I826V|UACA_ENST00000539319.1_Missense_Mutation_p.I732V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	841						cytoskeleton|extracellular region		p.I828V(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGAGCGTGTATTTTCTCCTGG	0.348													38	162	---	---	---	---	0	0
LRRC49	54839	broad.mit.edu	37	15	71305231	71305231	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:71305231T>C	ENST00000260382.5	+	14	1942	c.1682T>C	c.(1681-1683)aTt>aCt	p.I561T	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.I566T|LRRC49_ENST00000560691.1_Missense_Mutation_p.I267T|LRRC49_ENST00000560158.2_Missense_Mutation_p.I249T|LRRC49_ENST00000443425.2_Missense_Mutation_p.I517T|LRRC49_ENST00000544974.2_Missense_Mutation_p.I551T	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	561						cytoplasm|microtubule		p.I561T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TATCGTCTGATTTCCATTCTG	0.373													44	146	---	---	---	---	0	0
ZNF629	23361	broad.mit.edu	37	16	30794780	30794780	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr16:30794780T>C	ENST00000262525.4	-	3	1076	c.869A>G	c.(868-870)tAc>tGc	p.Y290C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y290C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGGCACTTGTAGGGTTTCTC	0.647													3	70	---	---	---	---	0	0
NCOR1	9611	broad.mit.edu	37	17	15995320	15995320	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:15995320G>A	ENST00000268712.3	-	22	3130	c.2873C>T	c.(2872-2874)gCt>gTt	p.A958V	NCOR1_ENST00000395848.1_Missense_Mutation_p.A865V|NCOR1_ENST00000395851.1_Missense_Mutation_p.A974V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	958					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.A958V(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGTAGAGAGCATAGCCGCT	0.428													4	166	---	---	---	---	0	0
UBB	7314	broad.mit.edu	37	17	16285790	16285790	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:16285790C>A	ENST00000302182.3	+	2	961	c.569C>A	c.(568-570)cCc>cAc	p.P190H	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Missense_Mutation_p.P190H|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Missense_Mutation_p.P114H|UBB_ENST00000395839.1_Missense_Mutation_p.P190H	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	190	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.P190H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GGCATCCCCCCCGACCAGCAG	0.552													3	80	---	---	---	---	0	0
HOXB13	10481	broad.mit.edu	37	17	46804355	46804355	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:46804355T>C	ENST00000290295.7	-	2	1236	c.652A>G	c.(652-654)Aag>Gag	p.K218E		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	218					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K218E(1)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ATGCGTTTCTTGCGGCCGCGA	0.622													20	67	---	---	---	---	0	0
SEC14L1	6397	broad.mit.edu	37	17	75205504	75205504	+	Silent	SNP	C	C	G			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:75205504C>G	ENST00000413679.2	+	14	1860	c.1557C>G	c.(1555-1557)ctC>ctG	p.L519L	SEC14L1_ENST00000591437.1_Silent_p.L485L|SEC14L1_ENST00000443798.4_Silent_p.L519L|SEC14L1_ENST00000392476.2_Silent_p.L519L|SEC14L1_ENST00000585618.1_Silent_p.L519L|SEC14L1_ENST00000436233.4_Silent_p.L519L|SEC14L1_ENST00000430767.4_Silent_p.L519L|SEC14L1_ENST00000431431.2_Silent_p.L485L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	519					transport	Golgi apparatus|integral to membrane	binding	p.L519L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						ACCTGAAGCTCTGGACTGAGA	0.587													9	30	---	---	---	---	0	0
ZNF492	57615	broad.mit.edu	37	19	22836775	22836775	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:22836775C>T	ENST00000456783.2	+	3	332	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P30S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGGAAAAGAACCTTGGAATGT	0.423													42	102	---	---	---	---	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260828	42260828	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:42260828C>A	ENST00000199764.6	+	2	603	c.385C>A	c.(385-387)Ctt>Att	p.L129I	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	129	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.L129I(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AAAGTCAGATCTTGTGAATGA	0.473													6	480	---	---	---	---	0	0
PCDH19	57526	broad.mit.edu	37	X	99551705	99551705	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrX:99551705T>C	ENST00000373034.4	-	6	4692	c.3017A>G	c.(3016-3018)gAc>gGc	p.D1006G	PCDH19_ENST00000420881.2_Missense_Mutation_p.D958G|PCDH19_ENST00000255531.7_Missense_Mutation_p.D959G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1006					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1006G(1)|p.D459G(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCCGCAGTCGTCATAAGCCTC	0.577													3	52	---	---	---	---	0	0
MT-RNR2	0	broad.mit.edu	37	M	3031	3031	+	RNA	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrM:3031G>A	ENST00000387347.2	+	0	1361					NR_039705.1																						GCCGCTATTAAAGGTTCGTTT	0.448													4	0	---	---	---	---	0	0
MT-CO2	4513	broad.mit.edu	37	M	7854	7854	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrM:7854T>C	ENST00000361739.1	+	1	269	c.269T>C	c.(268-270)gTc>gCc	p.V90A						mitochondrially encoded cytochrome c oxidase II											endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						AACAGACGAGGTCAACGATCC	0.498													4	2	---	---	---	---	0	0
INADL	10207	broad.mit.edu	37	1	62456031	62456031	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:62456031T>G	ENST00000371158.2	+	28	3976	c.3862T>G	c.(3862-3864)Tta>Gta	p.L1288V	INADL_ENST00000316485.6_Missense_Mutation_p.L1288V|INADL_ENST00000543708.1_Missense_Mutation_p.L72V|INADL_ENST00000545929.1_5'UTR	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1288	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.L1288V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGATGAACTCTTAGAGGTGAG	0.443													8	54	---	---	---	---	0	0
MCOLN3	55283	broad.mit.edu	37	1	85510885	85510885	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:85510885G>A	ENST00000370587.1	-	3	535	c.159C>T	c.(157-159)ttC>ttT	p.F53F	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.F53F|MCOLN3_ENST00000370589.2_Silent_p.F53F			Q8TDD5	MCLN3_HUMAN	mucolipin 3	53						integral to membrane	ion channel activity	p.F53F(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTCGAGCCCAGAACTTCTCAC	0.393													7	140	---	---	---	---	0	0
KCND3	3752	broad.mit.edu	37	1	112318709	112318709	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:112318709G>C	ENST00000369697.1	-	6	1970	c.1901C>G	c.(1900-1902)tCc>tGc	p.S634C	KCND3_ENST00000302127.4_Missense_Mutation_p.S634C|KCND3_ENST00000315987.2_Missense_Mutation_p.S653C			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	653						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.S634C(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTACAAGGCGGAGACCTTGAC	0.612													29	82	---	---	---	---	0	0
NOTCH2	4853	broad.mit.edu	37	1	120479922	120479922	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:120479922C>T	ENST00000256646.2	-	21	3724	c.3505G>A	c.(3505-3507)Ggt>Agt	p.G1169S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1169	EGF-like 30; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTATCCACCAATGAAGTCA	0.527			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				18	148	---	---	---	---	0	0
PIAS3	10401	broad.mit.edu	37	1	145580242	145580242	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:145580242A>G	ENST00000393045.2	+	6	814	c.724A>G	c.(724-726)Atc>Gtc	p.I242V	PIAS3_ENST00000369299.3_Missense_Mutation_p.I233V|PIAS3_ENST00000369298.1_Missense_Mutation_p.I207V	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	242	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.I242V(2)|p.I233V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGCCGCCCCATCAACATCAC	0.587													14	205	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152275293	152275293	+	Silent	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:152275293A>G	ENST00000368799.1	-	3	12104	c.12069T>C	c.(12067-12069)gaT>gaC	p.D4023D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	4023					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D4023D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTTGGATGATCTTTACCAA	0.383									Ichthyosis				68	192	---	---	---	---	0	0
LY9	4063	broad.mit.edu	37	1	160783454	160783454	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:160783454G>C	ENST00000368037.5	+	3	597	c.483G>C	c.(481-483)atG>atC	p.M161I	LY9_ENST00000368041.2_Missense_Mutation_p.M121I|LY9_ENST00000263285.6_Missense_Mutation_p.M161I|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Missense_Mutation_p.M161I|LY9_ENST00000341032.4_Missense_Mutation_p.M161I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.M161I(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGTCACCATGAAGTCTGTGA	0.532													10	114	---	---	---	---	0	0
CEP350	9857	broad.mit.edu	37	1	179989287	179989287	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:179989287C>G	ENST00000367607.3	+	12	2796	c.2378C>G	c.(2377-2379)aCt>aGt	p.T793S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	793						centrosome|nucleus|spindle		p.T793S(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGCCATTAACTTTTACACCT	0.378													63	131	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	186055463	186055463	+	Silent	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:186055463T>G	ENST00000271588.4	+	58	9199	c.8970T>G	c.(8968-8970)ggT>ggG	p.G2990G	HMCN1_ENST00000367492.2_Silent_p.G2990G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2990	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G2990G(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGTCTCTGGTTTTCCACCTC	0.408													27	114	---	---	---	---	0	0
CR1L	1379	broad.mit.edu	37	1	207818635	207818635	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:207818635G>C	ENST00000508064.2	+	1	117	c.57G>C	c.(55-57)ttG>ttC	p.L19F		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	19						cytoplasm|extracellular region|membrane		p.L19F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCCTGGGTTGCTTCTGGCGG	0.667													3	80	---	---	---	---	0	0
ABCG5	64240	broad.mit.edu	37	2	44040309	44040309	+	Silent	SNP	A	A	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:44040309A>T	ENST00000543989.1	-	9	2422	c.717T>A	c.(715-717)ctT>ctA	p.L239L	ABCG5_ENST00000260645.1_Silent_p.L634L|ABCG5_ENST00000405322.1_Silent_p.L463L			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	634	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.L634L(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTAGGATGACAAGAGCTGGAA	0.403													26	60	---	---	---	---	0	0
GPR75	10936	broad.mit.edu	37	2	54081085	54081085	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:54081085G>A	ENST00000394705.2	-	2	1079	c.809C>T	c.(808-810)gCt>gTt	p.A270V	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	270						integral to plasma membrane	G-protein coupled receptor activity	p.A270V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCTATACAGAGCCGGCATGGC	0.557													3	80	---	---	---	---	0	0
RETSAT	54884	broad.mit.edu	37	2	85571797	85571797	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:85571797G>C	ENST00000295802.4	-	7	1288	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	RETSAT_ENST00000457495.2_Missense_Mutation_p.I331M|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Missense_Mutation_p.I392M	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	392					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.I392M(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTCGCAGGCAGATGAAAACAG	0.592													3	77	---	---	---	---	0	0
VWC2L	402117	broad.mit.edu	37	2	215278952	215278952	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:215278952T>G	ENST00000312504.5	+	2	837	c.35T>G	c.(34-36)cTg>cGg	p.L12R	VWC2L_ENST00000427124.1_Missense_Mutation_p.L12R|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	12						extracellular region		p.L12R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGCATACTTCTGTTGGTCATC	0.433													9	107	---	---	---	---	0	0
BARD1	580	broad.mit.edu	37	2	215645851	215645851	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:215645851G>A	ENST00000260947.4	-	4	881	c.747C>T	c.(745-747)atC>atT	p.I249I	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Silent_p.I105I	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	249					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.I249I(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGGACTGGAGATAACAGATG	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				54	115	---	---	---	---	0	0
STK36	27148	broad.mit.edu	37	2	219538385	219538385	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:219538385C>T	ENST00000295709.3	+	3	401	c.122C>T	c.(121-123)tCa>tTa	p.S41L	STK36_ENST00000392105.3_Missense_Mutation_p.S41L|STK36_ENST00000392106.2_Missense_Mutation_p.S41L|STK36_ENST00000440309.1_Missense_Mutation_p.S41L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	41	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.S41L(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TTGGGGCGCTCAGAGAAGGAG	0.448													20	39	---	---	---	---	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751543	26751543	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:26751543G>C	ENST00000396641.2	+	2	972	c.380G>C	c.(379-381)aGt>aCt	p.S127T	LRRC3B_ENST00000417744.1_Missense_Mutation_p.S127T|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S127T	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	127						integral to membrane		p.S127T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CGGATTCAAAGTGTGCACAAA	0.478													25	43	---	---	---	---	0	0
XIRP1	165904	broad.mit.edu	37	3	39226607	39226607	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:39226607G>T	ENST00000340369.3	-	2	4558	c.4330C>A	c.(4330-4332)Ccc>Acc	p.P1444T	XIRP1_ENST00000421646.1_Missense_Mutation_p.P127T|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1444							actin binding	p.P1444T(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTCCTGAGGGGCCGGGGCCC	0.612													34	112	---	---	---	---	0	0
CCR9	10803	broad.mit.edu	37	3	45942586	45942586	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:45942586C>T	ENST00000357632.2	+	3	486	c.306C>T	c.(304-306)ccC>ccT	p.P102P	CCR9_ENST00000355983.2_Silent_p.P90P|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Silent_p.P90P|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	102					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		p.P102P(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TCACTCTTCCCTTCTGGGCCA	0.473													8	396	---	---	---	---	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040943	184040943	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:184040943C>G	ENST00000342981.4	+	13	2416	c.2002C>G	c.(2002-2004)Cca>Gca	p.P668A	EIF4G1_ENST00000427845.1_Missense_Mutation_p.P581A|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P581A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P668A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P668A|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P504A|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P675A|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P504A	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	668	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.P668A(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACTTCACTCCATCCTTTGC	0.607													5	190	---	---	---	---	0	0
DNAJB11	51726	broad.mit.edu	37	3	186302301	186302301	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:186302301A>G	ENST00000439351.1	+	10	1864	c.935A>G	c.(934-936)aAc>aGc	p.N312S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.N312S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	312					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.N312S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTTGACAACAACAATATCAAG	0.433													25	39	---	---	---	---	0	0
PPEF2	5470	broad.mit.edu	37	4	76813115	76813115	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr4:76813115G>A	ENST00000286719.7	-	3	428	c.72C>T	c.(70-72)gcC>gcT	p.A24A	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	24	IQ.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.A24A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGGATCAGGGCTGCTGCCT	0.607													19	69	---	---	---	---	0	0
GHR	2690	broad.mit.edu	37	5	42718930	42718930	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:42718930C>A	ENST00000230882.4	+	10	1511	c.1321C>A	c.(1321-1323)Cct>Act	p.P441T	GHR_ENST00000357703.3_Missense_Mutation_p.P419T|GHR_ENST00000537449.1_Missense_Mutation_p.P254T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	441					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.P441T(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGATGCTTGCCCTGCTACTCA	0.463													4	83	---	---	---	---	0	0
CHSY3	337876	broad.mit.edu	37	5	129520761	129520761	+	Silent	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:129520761A>G	ENST00000305031.4	+	3	2284	c.1926A>G	c.(1924-1926)gaA>gaG	p.E642E		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	642						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.E642E(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGAACTTTGAAAACATGTGTC	0.403													3	161	---	---	---	---	0	0
PCDHA12	0	broad.mit.edu	37	5	140255276	140255276	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:140255276C>A	ENST00000398631.2	+	1	219	c.219C>A	c.(217-219)gaC>gaA	p.D73E	PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1												p.D73E(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACGGGGACCTTCTGGAGG	0.622													59	134	---	---	---	---	0	0
LARP1	23367	broad.mit.edu	37	5	154182914	154182914	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:154182914C>A	ENST00000336314.4	+	12	1967	c.1943C>A	c.(1942-1944)cCt>cAt	p.P648H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	725							protein binding|RNA binding	p.P725H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACACTGACCCCTGAGCCCCCT	0.532													3	59	---	---	---	---	0	0
CRISP2	7180	broad.mit.edu	37	6	49666128	49666128	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:49666128C>G	ENST00000339139.4	-	7	600	c.364G>C	c.(364-366)Gtc>Ctc	p.V122L		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	122						extracellular space		p.V122L(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACACCATAGACAAAATCTAGG	0.413													4	182	---	---	---	---	0	0
MOXD1	26002	broad.mit.edu	37	6	132695782	132695782	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:132695782G>T	ENST00000367963.3	-	2	517	c.399C>A	c.(397-399)gaC>gaA	p.D133E	MOXD1_ENST00000336749.3_Missense_Mutation_p.D65E	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	133	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.D65E(1)|p.D133E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TTATACTCTTGTCATTTATGT	0.343													61	156	---	---	---	---	0	0
SYNE1	23345	broad.mit.edu	37	6	152647137	152647137	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:152647137T>A	ENST00000367255.5	-	80	15995	c.15394A>T	c.(15394-15396)Act>Tct	p.T5132S	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5132S|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5061S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5132					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.T5132S(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAGACGAAGTCTTCAACAAA	0.348										HNSCC(10;0.0054)			46	79	---	---	---	---	0	0
ABCA13	154664	broad.mit.edu	37	7	48318294	48318294	+	Silent	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:48318294T>C	ENST00000435803.1	+	18	7527	c.7503T>C	c.(7501-7503)acT>acC	p.T2501T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2501					transport	integral to membrane	ATP binding|ATPase activity	p.T2501T(2)|p.T2446T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCTGGGACTCTGGTCATGC	0.428													29	378	---	---	---	---	0	0
TRIM74	378108	broad.mit.edu	37	7	72430608	72430608	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:72430608G>T	ENST00000285805.3	-	4	869	c.670C>A	c.(670-672)Caa>Aaa	p.Q224K	TRIM74_ENST00000395244.1_Missense_Mutation_p.Q224K	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74	224						intracellular	zinc ion binding	p.Q224K(1)		prostate(1)	1						CACTCGGCTTGGGCCAGCCGC	0.672													5	80	---	---	---	---	0	0
BET1	10282	broad.mit.edu	37	7	93633528	93633528	+	Translation_Start_Site	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:93633528T>A	ENST00000222547.3	-	1	159	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000425626.1_Start_Codon_SNP_p.M1L|BET1_ENST00000433727.1_Start_Codon_SNP_p.M1L	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein	1					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	p.M1L(1)		large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			GCACGCCTCATCCTGCCAGAG	0.632													37	76	---	---	---	---	0	0
PEG10	23089	broad.mit.edu	37	7	94293408	94293408	+	Silent	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:94293408T>C	ENST00000482108.1	+	2	1019	c.540T>C	c.(538-540)tcT>tcC	p.S180S	PEG10_ENST00000488574.1_Silent_p.S180S	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	180	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.S180S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATGGGGTCTGTCATCGACT	0.547													25	271	---	---	---	---	0	0
RINT1	60561	broad.mit.edu	37	7	105190573	105190573	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:105190573G>C	ENST00000257700.2	+	8	1299	c.1068G>C	c.(1066-1068)caG>caC	p.Q356H		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	356	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	p.Q356H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGAAGATTCAGCCAATATTAG	0.378													8	117	---	---	---	---	0	0
DPP6	1804	broad.mit.edu	37	7	154667617	154667617	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:154667617G>A	ENST00000404039.1	+	20	2280	c.1693G>A	c.(1693-1695)Gat>Aat	p.D565N	DPP6_ENST00000377770.3_Splice_Site_p.D629N|DPP6_ENST00000332007.3_Splice_Site_p.D567N|DPP6_ENST00000427557.1_Splice_Site_p.D522N	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	629					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.D629N(1)|p.D565N(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTTTCCAGGGATGGCACCCC	0.632													5	13	---	---	---	---	0	0
MTMR7	9108	broad.mit.edu	37	8	17169089	17169089	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:17169089C>T	ENST00000180173.5	-	9	1066	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	MTMR7_ENST00000521857.1_Silent_p.R344R|MTMR7_ENST00000398099.3_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	344	Myotubularin phosphatase.|Substrate binding (By similarity).						protein tyrosine phosphatase activity	p.R344R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTGAGCGGTCCTGTCCCAGC	0.567													37	203	---	---	---	---	0	0
EBF2	64641	broad.mit.edu	37	8	25745379	25745379	+	Silent	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:25745379C>A	ENST00000520164.1	-	9	1398	c.861G>T	c.(859-861)ggG>ggT	p.G287G	EBF2_ENST00000535548.1_Silent_p.G18G|EBF2_ENST00000408929.3_Silent_p.G139G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	287	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G287G(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CAAGCATAGTCCCAAACACCA	0.488													35	67	---	---	---	---	0	0
PRKDC	5591	broad.mit.edu	37	8	48769758	48769758	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:48769758C>A	ENST00000314191.2	-	50	6621	c.6565G>T	c.(6565-6567)Gtg>Ttg	p.V2189L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.V2189L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2190					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V2189L(1)|p.V2190L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATAGTGGCCACTATCTCAACC	0.458								Non-homologous end-joining					5	24	---	---	---	---	0	0
ESRP1	54845	broad.mit.edu	37	8	95676990	95676990	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:95676990C>G	ENST00000433389.2	+	7	900	c.710C>G	c.(709-711)tCa>tGa	p.S237*	ESRP1_ENST00000423620.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000454170.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000358397.5_Nonsense_Mutation_p.S237*	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	237	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.S237*(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGCAGTCTTCAGATCAAGAT	0.373													32	96	---	---	---	---	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361522	105361522	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:105361522A>G	ENST00000297581.2	+	2	791	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.T248A	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	248					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.T248A(1)									CATCTACATCACCAGACAATT	0.488													11	172	---	---	---	---	0	0
ASAP1	50807	broad.mit.edu	37	8	131249205	131249205	+	Silent	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:131249205C>G	ENST00000357668.1	-	3	249	c.222G>C	c.(220-222)gtG>gtC	p.V74V	ASAP1_ENST00000518721.1_Silent_p.V74V			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	74					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.V74V(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGACTTCTTCACTTTCTGAA	0.294													20	67	---	---	---	---	0	0
LRRC14	9684	broad.mit.edu	37	8	145746456	145746456	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:145746456T>G	ENST00000292524.1	+	4	1222	c.1076T>G	c.(1075-1077)cTg>cGg	p.L359R	LRRC14_ENST00000529022.1_Missense_Mutation_p.L359R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	359								p.L359R(1)		endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTCCAGGGTCTGTTGCAGGCA	0.597													21	46	---	---	---	---	0	0
TLN1	7094	broad.mit.edu	37	9	35711265	35711265	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:35711265C>A	ENST00000314888.9	-	30	4359	c.4006G>T	c.(4006-4008)Gct>Tct	p.A1336S	TLN1_ENST00000540444.1_Missense_Mutation_p.A1336S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1336	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.A1336S(2)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCTGCAGCCAGCTGACTC	0.557													4	65	---	---	---	---	0	0
SPATA31C1	0	broad.mit.edu	37	9	90535282	90535282	+	RNA	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:90535282A>G	ENST00000602681.1	+	0	1186																											TCATGAGCCTATGGAAGATGC	0.582													4	226	---	---	---	---	0	0
OR1J1	347168	broad.mit.edu	37	9	125239347	125239347	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:125239347G>T	ENST00000259357.2	-	1	888	c.859C>A	c.(859-861)Cca>Aca	p.P287T		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287T(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TAAATGAATGGGTTCAACATG	0.418													63	151	---	---	---	---	0	0
PFKP	5214	broad.mit.edu	37	10	3176719	3176719	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:3176719C>G	ENST00000381075.2	+	22	2267	c.2043C>G	c.(2041-2043)atC>atG	p.I681M	PFKP_ENST00000381072.1_Missense_Mutation_p.I107M|PFKP_ENST00000381125.4_Missense_Mutation_p.I689M	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	689					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	p.I689M(2)|p.I681M(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAACCAAAATCTCTGCCAGAG	0.512													82	212	---	---	---	---	0	0
OR52D1	390066	broad.mit.edu	37	11	5510672	5510672	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:5510672T>G	ENST00000322641.5	+	1	758	c.736T>G	c.(736-738)Tcc>Gcc	p.S246A	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S246A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCTGTGGCTCCCACATTGG	0.498													7	184	---	---	---	---	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537038	5537038	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:5537038A>T	ENST00000380184.1	-	1	897	c.634T>A	c.(634-636)Tcc>Acc	p.S212T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	212								p.S212T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGAAGGCGGGAAACTTCTGGG	0.468													9	287	---	---	---	---	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955603	18955603	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:18955603G>T	ENST00000302797.3	-	1	953	c.729C>A	c.(727-729)caC>caA	p.H243Q		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	243					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H243Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCTGTCCACGTGGATCCATA	0.478													12	126	---	---	---	---	0	0
ATG13	9776	broad.mit.edu	37	11	46670720	46670720	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:46670720G>A	ENST00000434074.1	+	5	993	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	ATG13_ENST00000530500.1_Missense_Mutation_p.E23K|ATG13_ENST00000526508.1_Missense_Mutation_p.E102K|ATG13_ENST00000529655.1_Missense_Mutation_p.E102K|ATG13_ENST00000312040.4_Missense_Mutation_p.E102K|ATG13_ENST00000524625.1_Missense_Mutation_p.E102K|ATG13_ENST00000528494.1_Missense_Mutation_p.E102K|ATG13_ENST00000359513.4_Missense_Mutation_p.E102K|ATG13_ENST00000451945.1_Missense_Mutation_p.E102K	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	102					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	p.E102K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						ATGGTGTCTTGAAATGAATGA	0.353													37	88	---	---	---	---	0	0
TENM4	26011	broad.mit.edu	37	11	78516453	78516453	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:78516453T>A	ENST00000278550.7	-	15	2525	c.2063A>T	c.(2062-2064)aAc>aTc	p.N688I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.N688I(2)									GGTCTCGCAGTTGGTGCCTCC	0.617													4	9	---	---	---	---	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135815	32135815	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:32135815C>T	ENST00000312561.4	+	4	2340	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551									p.G642G(1)									ATGTAAGTGGCAGGGTTTTGG	0.413													30	47	---	---	---	---	0	0
SLC38A2	54407	broad.mit.edu	37	12	46757763	46757763	+	Silent	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:46757763C>G	ENST00000256689.5	-	11	1341	c.897G>C	c.(895-897)ctG>ctC	p.L299L	SLC38A2_ENST00000551374.1_Silent_p.L137L	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	299					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.L299L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATGAAAAGATCAGAATTGGCA	0.328													14	30	---	---	---	---	0	0
KCTD10	83892	broad.mit.edu	37	12	109898479	109898479	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:109898479C>G	ENST00000228495.6	-	3	630	c.349G>C	c.(349-351)Gtc>Ctc	p.V117L	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Intron|KCTD10_ENST00000540411.1_Missense_Mutation_p.V114L	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	117					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V117L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AGGCCTTGGACTAGGTAGTAC	0.577													28	140	---	---	---	---	0	0
ACAD10	80724	broad.mit.edu	37	12	112153696	112153696	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:112153696G>A	ENST00000455480.2	+	8	1192	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	ACAD10_ENST00000313698.4_Missense_Mutation_p.D308N|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.D308N	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	308							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.D308N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCTAATCGTGATCTAGTTCT	0.488													29	387	---	---	---	---	0	0
SACS	26278	broad.mit.edu	37	13	23909862	23909862	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:23909862G>C	ENST00000382298.3	-	10	8741	c.8153C>G	c.(8152-8154)gCa>gGa	p.A2718G	SACS_ENST00000382292.3_Missense_Mutation_p.A2718G|SACS_ENST00000402364.1_Missense_Mutation_p.A1968G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2718					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.A2571G(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGTCTGATGCTGGAACAGA	0.378													55	128	---	---	---	---	0	0
RCBTB1	55213	broad.mit.edu	37	13	50123715	50123715	+	Silent	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:50123715G>A	ENST00000378302.2	-	9	1184	c.924C>T	c.(922-924)taC>taT	p.Y308Y	RCBTB1_ENST00000258646.3_Silent_p.Y308Y|RCBTB1_ENST00000546015.1_Silent_p.Y308Y	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	308					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.Y308Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GGCCCCACATGTACACGTGCC	0.577													20	47	---	---	---	---	0	0
MYCBP2	23077	broad.mit.edu	37	13	77664342	77664342	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:77664342C>A	ENST00000407578.2	-	60	10690	c.10424G>T	c.(10423-10425)aGa>aTa	p.R3475I	MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3437I|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3437I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.R3437I(1)|p.R3475I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAGTATGATCTTTGGAAGAC	0.388													63	118	---	---	---	---	0	0
BNIP3P1	0	broad.mit.edu	37	14	28733803	28733803	+	RNA	SNP	A	A	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:28733803A>T	ENST00000550043.1	+	0	208																											GAGAGCCTGCAGGGCTCCTGG	0.582													3	37	---	---	---	---	0	0
ADAM20	8748	broad.mit.edu	37	14	70989752	70989752	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:70989752G>C	ENST00000256389.3	-	2	2117	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	575	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.L625V(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGCTCTATCAGATTGGGAATT	0.448													3	131	---	---	---	---	0	0
DUOX2	50506	broad.mit.edu	37	15	45404868	45404868	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:45404868T>C	ENST00000389039.6	-	4	594	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	DUOX2_ENST00000603300.1_Missense_Mutation_p.Y70C			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	70	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.Y70C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGAGCCTGATACACACCGTC	0.687													15	29	---	---	---	---	0	0
DUOX2	50506	broad.mit.edu	37	15	45404890	45404890	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:45404890C>G	ENST00000389039.6	-	4	572	c.187G>C	c.(187-189)Gcc>Ccc	p.A63P	DUOX2_ENST00000603300.1_Missense_Mutation_p.A63P			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	63	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.A63P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCGTAATTGGCTGGTACGCGG	0.682													18	28	---	---	---	---	0	0
GNB5	0	broad.mit.edu	37	15	52433404	52433404	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:52433404T>C	ENST00000261837.7	-	7	625	c.560A>G	c.(559-561)aAa>aGa	p.K187R	GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Missense_Mutation_p.K145R	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	187						heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.K187R(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AGACTTCTTTTTGGCAGCCAT	0.453													49	80	---	---	---	---	0	0
FAM214A	56204	broad.mit.edu	37	15	52877000	52877000	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:52877000T>G	ENST00000261844.7	-	12	3171	c.3019A>C	c.(3019-3021)Aat>Cat	p.N1007H	FAM214A_ENST00000546305.2_Missense_Mutation_p.N1014H|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	1007								p.N1007H(1)									TTCTCTTTATTAACACTTCTC	0.348													14	53	---	---	---	---	0	0
RSPRY1	89970	broad.mit.edu	37	16	57243065	57243065	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:57243065C>T	ENST00000537866.1	+	4	1355	c.482C>T	c.(481-483)aCa>aTa	p.T161I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.T161I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	161						extracellular region	zinc ion binding	p.T161I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GCTGTTATAACATTGTTACTA	0.348													24	388	---	---	---	---	0	0
PDP2	57546	broad.mit.edu	37	16	66919043	66919043	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:66919043G>A	ENST00000311765.2	+	2	1190	c.856G>A	c.(856-858)Gac>Aac	p.D286N	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	286					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	p.D286N(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AAATGCTGGTGACTGCCGAGC	0.557													14	70	---	---	---	---	0	0
RABEP1	9135	broad.mit.edu	37	17	5264856	5264856	+	Silent	SNP	A	A	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:5264856A>G	ENST00000262477.6	+	9	1673	c.1449A>G	c.(1447-1449)caA>caG	p.Q483Q	RABEP1_ENST00000408982.2_Silent_p.Q483Q|NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000537505.1_Silent_p.Q440Q|RABEP1_ENST00000341923.6_Silent_p.Q483Q|RABEP1_ENST00000546142.2_Silent_p.Q483Q	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	483					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	p.Q483Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CACCAGAACAAGAAGAGACAG	0.478													40	34	---	---	---	---	0	0
KCNAB3	9196	broad.mit.edu	37	17	7827736	7827736	+	Silent	SNP	G	G	T	rs145774275		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:7827736G>T	ENST00000303790.2	-	9	707	c.708C>A	c.(706-708)atC>atA	p.I236I		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	236						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.I236I(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CACTCACCATGATTTCTGCAG	0.572													3	57	---	---	---	---	0	0
MFAP4	4239	broad.mit.edu	37	17	19288435	19288435	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:19288435G>A	ENST00000395592.2	-	5	640	c.569C>T	c.(568-570)gCa>gTa	p.A190V	MFAP4_ENST00000299610.4_Missense_Mutation_p.A166V|MFAP4_ENST00000497081.2_Missense_Mutation_p.A191V	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	166	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding	p.A166V(1)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTCAAAGCCTGCCACAAAGAG	0.602													34	37	---	---	---	---	0	0
UBTF	7343	broad.mit.edu	37	17	42284563	42284563	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:42284563G>C	ENST00000527034.1	-	20	2408	c.2227C>G	c.(2227-2229)Ctc>Gtc	p.L743V	UBTF_ENST00000533177.1_3'UTR|UBTF_ENST00000393606.3_3'UTR|UBTF_ENST00000343638.5_3'UTR|UBTF_ENST00000302904.4_3'UTR|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000436088.1_3'UTR			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	0	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGTTGGGGAGGGGAGCTCCT	0.567													15	25	---	---	---	---	0	0
OR7C1	26664	broad.mit.edu	37	19	14910838	14910838	+	Silent	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14910838G>C	ENST00000248073.2	-	1	185	c.111C>G	c.(109-111)gtC>gtG	p.V37V	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	37					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.V37V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CGGTGAAAGTGACTAGGTACA	0.493													6	144	---	---	---	---	0	0
OR7A5	26659	broad.mit.edu	37	19	14938095	14938095	+	Nonstop_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14938095C>A	ENST00000322301.3	-	2	1046	c.959G>T	c.(958-960)tGa>tTa	p.*320L	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Nonstop_Mutation_p.*320L			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*320L(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GCCCTGCAATCATGGGCACTT	0.383													63	132	---	---	---	---	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922668	17922668	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:17922668G>C	ENST00000318683.6	+	3	1003	c.856G>C	c.(856-858)Gct>Cct	p.A286P	B3GNT3_ENST00000595387.1_Missense_Mutation_p.A286P	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	286					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	p.A286P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCTGCGCCGTGCTGCCCATGT	0.602													32	114	---	---	---	---	0	0
KRTDAP	388533	broad.mit.edu	37	19	35981320	35981320	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:35981320C>T	ENST00000338897.3	-	1	113	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	KRTDAP_ENST00000484218.2_Missense_Mutation_p.V9M|KRTDAP_ENST00000479340.1_Intron	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	9					cell differentiation	extracellular region		p.V9M(1)		breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGAGCACCACGGCAGGAAGG	0.572													6	150	---	---	---	---	0	0
KIF16B	55614	broad.mit.edu	37	20	16360552	16360552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:16360552C>A	ENST00000354981.2	-	19	2252	c.2095G>T	c.(2095-2097)Gaa>Taa	p.E699*	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E699*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E699*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	699	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.E699*(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAGGTCTCTTCTTCTTGTCTC	0.448													76	184	---	---	---	---	0	0
NAA20	51126	broad.mit.edu	37	20	20013297	20013297	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:20013297G>A	ENST00000398602.2	+	5	1050	c.415G>A	c.(415-417)Gat>Aat	p.D139N	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Splice_Site_p.D151N|NAA20_ENST00000310450.4_Intron	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	151	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	p.D151N(1)		endometrium(3)|lung(2)|prostate(1)	6						GGACGCTTATGGTAAGCTCCC	0.408													10	77	---	---	---	---	0	0
STK4	6789	broad.mit.edu	37	20	43703680	43703680	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:43703680G>A	ENST00000372806.3	+	11	1422	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.D388N	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	443	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	p.D443N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GACAGTGGAGGACCTTCAGAA	0.542													5	68	---	---	---	---	0	0
ADNP	23394	broad.mit.edu	37	20	49509965	49509965	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:49509965G>C	ENST00000396029.3	-	5	1853	c.1286C>G	c.(1285-1287)gCt>gGt	p.A429G	ADNP_ENST00000371602.4_Missense_Mutation_p.A429G|ADNP_ENST00000349014.3_Missense_Mutation_p.A429G|ADNP_ENST00000396032.3_Missense_Mutation_p.A429G	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	429						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A429G(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GGCAGCTGCAGCAGGTTTGGA	0.473													64	154	---	---	---	---	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959620	45959620	+	Silent	SNP	C	C	T			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr21:45959620C>T	ENST00000400375.1	-	1	458	c.414G>A	c.(412-414)caG>caA	p.Q138Q	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	138	24 X 5 AA repeats of C-C-X(3).					keratin filament		p.Q138Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						AGCAGGACTGCTGGCTGGAGG	0.582													33	26	---	---	---	---	0	0
SF3A1	10291	broad.mit.edu	37	22	30736751	30736751	+	Silent	SNP	T	T	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr22:30736751T>C	ENST00000215793.8	-	8	1276	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	SF3A1_ENST00000439242.1_Silent_p.T309T	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	p.T374T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GAGGCATGGGTGTCTCTGGGG	0.582													59	112	---	---	---	---	0	0
ISX	91464	broad.mit.edu	37	22	35481682	35481682	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr22:35481682C>G	ENST00000308700.6	+	4	1686	c.734C>G	c.(733-735)aCa>aGa	p.T245R	ISX_ENST00000404699.2_Missense_Mutation_p.T245R	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T245R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCTACTTCAACATAGAGATTG	0.532													3	121	---	---	---	---	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718895	108718895	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chrX:108718895G>C	ENST00000218006.2	-	2	562	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	91					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.L91V(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GAATAACTCAGGTCAAAAGAT	0.502											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	44	---	---	---	---	0	0
HIPK1	204851	broad.mit.edu	37	1	114483187	114483187	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:114483187A>G	ENST00000369558.1	+	2	414	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HIPK1_ENST00000426820.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q61R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.Q61R(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCTCACCAGGTAGCAAAT	0.537													15	227	---	---	---	---	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577155	158577155	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:158577155G>T	ENST00000361284.1	+	1	927	c.927G>T	c.(925-927)ttG>ttT	p.L309F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L309F(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGGGAGATTGCTGGGTAAAG	0.478													11	241	---	---	---	---	0	0
BRINP3	339479	broad.mit.edu	37	1	190129810	190129810	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:190129810A>G	ENST00000367462.3	-	7	1403	c.1172T>C	c.(1171-1173)cTg>cCg	p.L391P	BRINP3_ENST00000534846.1_Missense_Mutation_p.L289P	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	391								p.L391P(1)									TTGTCTTGGCAGGCTGATGAG	0.373													13	135	---	---	---	---	0	0
OR2B11	127623	broad.mit.edu	37	1	247614412	247614412	+	Silent	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:247614412G>T	ENST00000318749.6	-	1	896	c.873C>A	c.(871-873)ccC>ccA	p.P291P		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P291P(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTAGGTGAAGGGATTGAGAG	0.488													6	423	---	---	---	---	0	0
OR2T3	343173	broad.mit.edu	37	1	248637353	248637353	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:248637353T>A	ENST00000359594.2	+	1	727	c.702T>A	c.(700-702)aaT>aaA	p.N234K		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N234K(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGGATGAATTCTGCCGCCG	0.562													13	143	---	---	---	---	0	0
NBAS	51594	broad.mit.edu	37	2	15378658	15378658	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:15378658C>T	ENST00000281513.5	-	45	5902	c.5877G>A	c.(5875-5877)gaG>gaA	p.E1959E	NBAS_ENST00000441750.1_Silent_p.E1839E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1959								p.E1959E(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAAGTGATTTCTCCAGATGAT	0.408													9	110	---	---	---	---	0	0
SLC35F5	80255	broad.mit.edu	37	2	114501368	114501368	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:114501368C>T	ENST00000245680.2	-	6	897	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SLC35F5_ENST00000409342.1_Missense_Mutation_p.E156K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	162					transport	integral to membrane		p.E162K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TACAGAGGTTCACTCTGGAAT	0.323													69	196	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179580256	179580256	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:179580256C>T	ENST00000589042.1	-	89	26109	c.25885G>A	c.(25885-25887)Ggc>Agc	p.G8629S	TTN_ENST00000342992.6_Missense_Mutation_p.G7385S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8312S|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8312	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7385S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCACTGCCTGCTGCATTG	0.478													12	85	---	---	---	---	0	0
WDFY1	57590	broad.mit.edu	37	2	224749392	224749392	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:224749392C>A	ENST00000233055.4	-	9	1008	c.906G>T	c.(904-906)tgG>tgT	p.W302C		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	302						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	p.W302C(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCTTGGTGTCCCACATCTGCT	0.463													5	366	---	---	---	---	0	0
RTP3	83597	broad.mit.edu	37	3	46542309	46542309	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:46542309A>G	ENST00000296142.3	+	2	1191	c.619A>G	c.(619-621)Atc>Gtc	p.I207V		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	207					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	p.I207V(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCAAAACCACATCTGTAGGAA	0.433													34	151	---	---	---	---	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135801246	135801246	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:135801246C>T	ENST00000264977.3	+	8	3388	c.2771C>T	c.(2770-2772)tCt>tTt	p.S924F	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S188F|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S303F|PPP2R3A_ENST00000492624.2_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	924					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	p.S303F(1)|p.S924F(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCGATCTGTCTCGATACAAT	0.348													12	166	---	---	---	---	0	0
HLTF	6596	broad.mit.edu	37	3	148760005	148760005	+	Silent	SNP	A	A	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:148760005A>T	ENST00000310053.5	-	19	2338	c.2145T>A	c.(2143-2145)atT>atA	p.I715I	HLTF_ENST00000494055.1_Silent_p.I715I|HLTF_ENST00000465259.1_Silent_p.I714I|HLTF_ENST00000392912.2_Silent_p.I715I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	715					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.I715I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TATGGCAACAAATTTGCCGCA	0.373													42	113	---	---	---	---	0	0
AADAC	13	broad.mit.edu	37	3	151545615	151545615	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:151545615C>T	ENST00000232892.7	+	5	981	c.855C>T	c.(853-855)tcC>tcT	p.S285S	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase						positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	p.S285S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATTGGAGTTCCCTGCTCCCTG	0.383													9	200	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126371608	126371608	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:126371608T>A	ENST00000394329.3	+	9	9450	c.9437T>A	c.(9436-9438)tTa>tAa	p.L3146*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.L1444*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3146	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L3146*(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGGTATATTAACACTAGCC	0.398													4	145	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126371768	126371768	+	Silent	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:126371768T>C	ENST00000394329.3	+	9	9610	c.9597T>C	c.(9595-9597)taT>taC	p.Y3199Y	FAT4_ENST00000335110.5_Silent_p.Y1497Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3199	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y3199Y(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGATGACTATTTCCCTACTG	0.418													9	141	---	---	---	---	0	0
FNIP2	57600	broad.mit.edu	37	4	159790453	159790453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:159790453C>T	ENST00000264433.6	+	13	2740	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	FNIP2_ENST00000379346.3_Nonsense_Mutation_p.R912*	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	889	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.R215*(1)|p.R889*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGACATTCCCCGAAATGAAAG	0.592													3	27	---	---	---	---	0	0
FCHO2	115548	broad.mit.edu	37	5	72370579	72370579	+	Silent	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:72370579G>T	ENST00000430046.2	+	20	1706	c.1590G>T	c.(1588-1590)cgG>cgT	p.R530R	FCHO2_ENST00000341845.6_Silent_p.R530R|FCHO2_ENST00000512348.1_Silent_p.R497R	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	530								p.R530R(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTGTGTCACGGGGTCCCAGCC	0.408													3	37	---	---	---	---	0	0
OR2V2	285659	broad.mit.edu	37	5	180582179	180582179	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:180582179G>A	ENST00000328275.1	+	1	237	c.237G>A	c.(235-237)gtG>gtA	p.V79V		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V79V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTACCAATGTGCCAAAGATGG	0.517													14	245	---	---	---	---	0	0
CDC40	51362	broad.mit.edu	37	6	110547378	110547378	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:110547378C>T	ENST00000368932.1	+	14	1450	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	CDC40_ENST00000445340.2_Intron|CDC40_ENST00000307731.1_Missense_Mutation_p.P450L|CDC40_ENST00000368930.1_Missense_Mutation_p.P450L			O60508	PRP17_HUMAN	cell division cycle 40	450					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		p.P450L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGGGATATCCCTGTGGATTTC	0.323													25	88	---	---	---	---	0	0
TPST1	8460	broad.mit.edu	37	7	65751577	65751577	+	Missense_Mutation	SNP	G	G	A	rs142506783		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:65751577G>A	ENST00000304842.5	+	3	1350	c.925G>A	c.(925-927)Gat>Aat	p.D309N	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	309					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	p.D309N(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GATACCGCCAGATGTTTTACA	0.428													9	106	---	---	---	---	0	0
PHTF2	57157	broad.mit.edu	37	7	77567152	77567152	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:77567152C>T	ENST00000416283.2	+	11	1488	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	PHTF2_ENST00000275575.7_Silent_p.N450N|PHTF2_ENST00000424760.1_Silent_p.N450N|PHTF2_ENST00000248550.7_Silent_p.N488N|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000307305.8_Silent_p.N450N|PHTF2_ENST00000422959.2_Silent_p.N454N	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGATAATGAACAGAGTGAGTT	0.308													6	55	---	---	---	---	0	0
ERMP1	79956	broad.mit.edu	37	9	5798848	5798848	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:5798848A>C	ENST00000339450.5	-	12	2317	c.2228T>G	c.(2227-2229)cTt>cGt	p.L743R	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.L321R	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	743					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	p.L743R(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AAAACCACAAAGAGGTGCATT	0.403													5	72	---	---	---	---	0	0
GPR123	84435	broad.mit.edu	37	10	134942117	134942117	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr10:134942117C>T	ENST00000607359.1	+	16	2942	c.2942C>T	c.(2941-2943)aCg>aTg	p.T981M	GPR123_ENST00000392606.2_Missense_Mutation_p.T165M|GPR123_ENST00000392607.3_Missense_Mutation_p.T262M			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	262						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T262M(1)|p.T981M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCGCCTTCACGCTGTTCCTG	0.692													5	13	---	---	---	---	0	0
OR51F1	256892	broad.mit.edu	37	11	4791052	4791052	+	Silent	SNP	A	A	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:4791052A>T	ENST00000380383.1	-	1	116	c.117T>A	c.(115-117)ccT>ccA	p.P39P	OR51F1_ENST00000343430.3_Silent_p.P32P|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	32						integral to membrane	olfactory receptor activity	p.P32P(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AACAACAGAAAGGAATGGAGA	0.453													11	41	---	---	---	---	0	0
SIK3	23387	broad.mit.edu	37	11	116729309	116729309	+	Missense_Mutation	SNP	T	T	C	rs141671439	by1000genomes	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:116729309T>C	ENST00000375300.1	-	20	2733	c.2728A>G	c.(2728-2730)Aca>Gca	p.T910A	SIK3_ENST00000434315.2_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.T852A|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000488337.1_Intron			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	852	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.T958A(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCCACTCCTGTTGAAGGGCTG	0.582													45	133	---	---	---	---	0	0
SIK3	23387	broad.mit.edu	37	11	116767026	116767026	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:116767026T>C	ENST00000375300.1	-	6	813	c.808A>G	c.(808-810)Aat>Gat	p.N270D	SIK3_ENST00000434315.2_Missense_Mutation_p.N111D|SIK3_ENST00000292055.4_Missense_Mutation_p.N212D|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.N212D|SIK3_ENST00000446921.2_Missense_Mutation_p.N270D			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	212						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.N270D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCCCGCAGATTCTGCAGTGTG	0.507													6	116	---	---	---	---	0	0
PTPN6	5777	broad.mit.edu	37	12	7061281	7061281	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:7061281C>T	ENST00000456013.1	+	3	509	c.267C>T	c.(265-267)cgC>cgT	p.R89R	PTPN6_ENST00000399448.1_Silent_p.R91R|PTPN6_ENST00000318974.9_Silent_p.R89R|PTPN6_ENST00000447931.2_Silent_p.R50R	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	89	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	p.R89R(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TGCAGGACCGCGACGGCACCA	0.587													12	132	---	---	---	---	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20890188	20890188	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:20890188C>A	ENST00000381552.1	+	11	1898	c.1530C>A	c.(1528-1530)aaC>aaA	p.N510K	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N392K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N461K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N510K|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.N510K			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	510	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.N510K(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AAACCTCCAACAGGAGTGGAA	0.413													14	100	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413230	105413230	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr14:105413230T>G	ENST00000333244.5	-	7	8677	c.8558A>C	c.(8557-8559)cAa>cCa	p.Q2853P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2853						nucleus		p.Q2853P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGATCCCCTTGCATGGAGGG	0.622													19	230	---	---	---	---	0	0
CAPN3	825	broad.mit.edu	37	15	42681231	42681231	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:42681231T>G	ENST00000397163.3	+	5	957	c.738T>G	c.(736-738)agT>agG	p.S246R	CAPN3_ENST00000357568.3_Missense_Mutation_p.S246R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.S159R|CAPN3_ENST00000318023.7_Missense_Mutation_p.S246R|CAPN3_ENST00000349748.3_Missense_Mutation_p.S246R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	246	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.S246R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATGCTCCTAGTGACATGTACA	0.542													17	194	---	---	---	---	0	0
SLC12A1	6557	broad.mit.edu	37	15	48580269	48580269	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:48580269C>T	ENST00000396577.3	+	22	2874	c.2659C>T	c.(2659-2661)Cat>Tat	p.H887Y	SLC12A1_ENST00000558405.1_Missense_Mutation_p.H887Y|SLC12A1_ENST00000380993.3_Missense_Mutation_p.H887Y	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	887					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.H887Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCAGTCGATGCATGTGGGAGA	0.403													7	25	---	---	---	---	0	0
GP2	2813	broad.mit.edu	37	16	20335248	20335248	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr16:20335248C>A	ENST00000302555.5	-	3	574	c.425G>T	c.(424-426)aGt>aTt	p.S142I	GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.S142I|GP2_ENST00000381360.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	142						anchored to membrane|extracellular region|plasma membrane		p.S142I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCAGTTGCCACTCCAATGGGC	0.592													3	83	---	---	---	---	0	0
TOM1L1	10040	broad.mit.edu	37	17	53007460	53007460	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr17:53007460G>T	ENST00000575882.1	+	8	1100	c.747G>T	c.(745-747)atG>atT	p.M249I	TOM1L1_ENST00000348161.4_Missense_Mutation_p.M172I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M172I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M242I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M249I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	249	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	p.M249I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GTCGGGAGATGCAGGAGAGGA	0.418													29	111	---	---	---	---	0	0
DSEL	92126	broad.mit.edu	37	18	65179121	65179121	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr18:65179121A>G	ENST00000310045.7	-	2	4228	c.2755T>C	c.(2755-2757)Tca>Cca	p.S919P	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	909						integral to membrane	isomerase activity|sulfotransferase activity	p.S919P(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CGGATATCTGACACCTTCCAT	0.423													5	138	---	---	---	---	0	0
PRR22	163154	broad.mit.edu	37	19	5784048	5784048	+	Silent	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:5784048T>C	ENST00000419421.2	-	3	314	c.210A>G	c.(208-210)ccA>ccG	p.P70P	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	68								p.P68P(1)		endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						AGCACCCGCATGGGGCCATCT	0.677													3	45	---	---	---	---	0	0
ICAM1	3383	broad.mit.edu	37	19	10394818	10394818	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:10394818G>A	ENST00000264832.3	+	4	1072	c.747G>A	c.(745-747)caG>caA	p.Q249Q	ICAM1_ENST00000423829.2_Silent_p.Q27Q|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	249	Ig-like C2-type 3.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.Q249Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CGGAGGCCCAGGTCCACCTGG	0.647													4	55	---	---	---	---	0	0
S1PR5	53637	broad.mit.edu	37	19	10625418	10625418	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:10625418G>A	ENST00000439028.3	-	2	395	c.270C>T	c.(268-270)gcC>gcT	p.A90A	S1PR5_ENST00000333430.4_Silent_p.A90A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	90						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.A90A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						GGATGTTGGCGGCGTAGGCGG	0.672													5	4	---	---	---	---	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770341	31770341	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:31770341C>T	ENST00000240587.4	-	2	685	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	120					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A120T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGTACACGGCCTTCATCTGC	0.557													4	75	---	---	---	---	0	0
FERMT1	55612	broad.mit.edu	37	20	6077614	6077614	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:6077614C>T	ENST00000217289.4	-	8	1812	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	FERMT1_ENST00000536936.1_Missense_Mutation_p.E85K	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	342	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	p.E342K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTTCTATTTCATCAACCTCG	0.418													8	393	---	---	---	---	0	0
RRBP1	6238	broad.mit.edu	37	20	17622555	17622555	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:17622555T>A	ENST00000377813.1	-	5	2374	c.2071A>T	c.(2071-2073)Aag>Tag	p.K691*	RRBP1_ENST00000455029.2_Nonsense_Mutation_p.K32*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.K258*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.K258*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.K691*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	691					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	p.K258*(1)|p.K691*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGGTCACCCTTCTGAGTGGCC	0.557													10	192	---	---	---	---	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42161556	42161556	+	Silent	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:42161556T>C	ENST00000444063.1	+	9	1290	c.1158T>C	c.(1156-1158)taT>taC	p.Y386Y	L3MBTL1_ENST00000373134.1_Silent_p.Y386Y|L3MBTL1_ENST00000373135.3_Silent_p.Y386Y|L3MBTL1_ENST00000427442.2_Silent_p.Y454Y|L3MBTL1_ENST00000418998.1_Silent_p.Y454Y			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	386	Interaction with monomethylated and dimethylated peptides.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y454Y(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ATGATACTTATGACTACTGGT	0.572													7	77	---	---	---	---	0	0
YWHAH	7533	broad.mit.edu	37	22	32346379	32346379	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr22:32346379C>T	ENST00000397492.1	+	2	384	c.172C>T	c.(172-174)Cct>Tct	p.P58S	YWHAH_ENST00000471374.1_Intron|YWHAH_ENST00000248975.5_Intron			Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	0					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CGCCCCTACTCCTGGCTGCAG	0.522													25	90	---	---	---	---	0	0
CCNL2	81669	broad.mit.edu	37	1	1333666	1333666	+	Silent	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:1333666G>A	ENST00000400809.3	-	3	425	c.420C>T	c.(418-420)cgC>cgT	p.R140R	CCNL2_ENST00000408952.5_5'UTR|CCNL2_ENST00000408918.4_Silent_p.R140R	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	140	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	p.R140R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CGTCCCGTATGCGTCTTGGGG	0.502													51	195	---	---	---	---	0	0
NBPF1	55672	broad.mit.edu	37	1	16918514	16918514	+	Translation_Start_Site	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:16918514C>A	ENST00000430580.2	-	7	890	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGATACCACCATGCTGACGT	0.483													40	852	---	---	---	---	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988948	154988948	+	Silent	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:154988948C>A	ENST00000368426.3	+	4	1544	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P	ZBTB7B_ENST00000292176.2_Silent_p.P469P|ZBTB7B_ENST00000417934.2_Silent_p.P503P|ZBTB7B_ENST00000535420.1_Silent_p.P469P	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	469					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.P469P(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATGCACCACCCCACTACCCAC	0.652													3	56	---	---	---	---	0	0
CEP170	9859	broad.mit.edu	37	1	243354360	243354360	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:243354360G>T	ENST00000366542.1	-	8	1119	c.1068C>A	c.(1066-1068)agC>agA	p.S356R	CEP170_ENST00000366544.1_Missense_Mutation_p.S356R|CEP170_ENST00000366543.1_Missense_Mutation_p.S356R	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	356						centriole|microtubule|spindle		p.S356R(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CACTTTTAATGCTTTTAGAAT	0.378													3	41	---	---	---	---	0	0
FIGN	55137	broad.mit.edu	37	2	164467945	164467945	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr2:164467945C>T	ENST00000333129.3	-	3	711	c.397G>A	c.(397-399)Gct>Act	p.A133T	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	133						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A133T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTGACTCCAGCTTTGCTGGCA	0.498													80	230	---	---	---	---	0	0
LRRC2	79442	broad.mit.edu	37	3	46592966	46592966	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:46592966G>A	ENST00000395905.3	-	2	508	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.A39V	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	39								p.A39V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTTCTCCAAGGCGCTCTTCTC	0.468													4	164	---	---	---	---	0	0
DOCK3	1795	broad.mit.edu	37	3	51413195	51413195	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:51413195G>A	ENST00000266037.9	+	51	5452	c.5429G>A	c.(5428-5430)cGa>cAa	p.R1810Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1810						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.R1810Q(2)|p.R1799Q(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATTTCCAGCGAGCCCTGTTC	0.527													6	220	---	---	---	---	0	0
OCIAD1	54940	broad.mit.edu	37	4	48851971	48851971	+	Silent	SNP	T	T	C			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr4:48851971T>C	ENST00000425583.2	+	6	524	c.249T>C	c.(247-249)tgT>tgC	p.C83C	OCIAD1_ENST00000444354.2_Silent_p.C83C|OCIAD1_ENST00000513391.2_Silent_p.C83C|OCIAD1_ENST00000264312.7_Silent_p.C83C|OCIAD1_ENST00000396448.2_Silent_p.C83C|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Silent_p.C83C|OCIAD1_ENST00000506801.1_Silent_p.C29C|OCIAD1_ENST00000381473.3_Silent_p.C83C|OCIAD1_ENST00000509122.1_Silent_p.C56C	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	83	OCIA.					endosome	protein binding	p.C83C(1)		breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AAGTTGCTTGTATCATGGGAT	0.318													39	128	---	---	---	---	0	0
PCDHGA4	0	broad.mit.edu	37	5	140735373	140735373	+	Silent	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:140735373C>T	ENST00000571252.1	+	1	606	c.606C>T	c.(604-606)cgC>cgT	p.R202R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTAGATCGCGAGGAAGAGG	0.552													6	21	---	---	---	---	0	0
CSMD1	64478	broad.mit.edu	37	8	2910129	2910129	+	Silent	SNP	T	T	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:2910129T>A	ENST00000520002.1	-	51	8073	c.7518A>T	c.(7516-7518)tcA>tcT	p.S2506S	CSMD1_ENST00000400186.3_Silent_p.S2506S|CSMD1_ENST00000542608.1_Silent_p.S2505S|CSMD1_ENST00000537824.1_Silent_p.S2505S|CSMD1_ENST00000602723.1_Silent_p.S2506S|CSMD1_ENST00000602557.1_Silent_p.S2506S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2506	Sushi 15.					integral to membrane		p.S2505S(1)|p.S2234S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCCGGTAAATGAACCGTTTC	0.428													7	27	---	---	---	---	0	0
ANK1	286	broad.mit.edu	37	8	41572581	41572581	+	Silent	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:41572581G>A	ENST00000396942.1	-	15	1697	c.1614C>T	c.(1612-1614)acC>acT	p.T538T	ANK1_ENST00000352337.4_Silent_p.T538T|ANK1_ENST00000396945.1_Silent_p.T538T|ANK1_ENST00000347528.4_Silent_p.T538T|ANK1_ENST00000379758.2_Silent_p.T538T|ANK1_ENST00000265709.8_Silent_p.T571T|ANK1_ENST00000289734.7_Silent_p.T538T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	538	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.T538T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGTGCAGAGGGGTAAATCCTT	0.627													22	91	---	---	---	---	0	0
CELF2	10659	broad.mit.edu	37	10	11330491	11330491	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr10:11330491G>A	ENST00000379261.4	+	9	1023	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CELF2_ENST00000542579.1_Missense_Mutation_p.A318T|CELF2_ENST00000608830.1_Missense_Mutation_p.A287T|CELF2_ENST00000450189.1_Missense_Mutation_p.A318T|CELF2_ENST00000609692.1_Missense_Mutation_p.A287T|CELF2_ENST00000354440.2_Missense_Mutation_p.A287T|CELF2_ENST00000417956.2_Missense_Mutation_p.A287T|CELF2_ENST00000399850.3_Missense_Mutation_p.A287T|CELF2_ENST00000416382.2_Missense_Mutation_p.A311T|CELF2_ENST00000537122.1_Missense_Mutation_p.A200T|CELF2_ENST00000427450.1_Missense_Mutation_p.A287T|CELF2_ENST00000354897.3_Missense_Mutation_p.A287T|CELF2_ENST00000315874.4_Missense_Mutation_p.A287T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	311	Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.A306T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CACGAGCAGCGCCCTGGGAGC	0.637													10	45	---	---	---	---	0	0
GHITM	27069	broad.mit.edu	37	10	85904774	85904774	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr10:85904774T>C	ENST00000372134.3	+	5	676		c.e5+2			NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein						apoptosis	integral to membrane|mitochondrial inner membrane		p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TCTTGGGTGGTAAGTCAGCTG	0.368													3	176	---	---	---	---	0	0
OR5L2	26338	broad.mit.edu	37	11	55594892	55594892	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:55594892G>T	ENST00000378397.1	+	1	198	c.198G>T	c.(196-198)ttG>ttT	p.L66F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L66F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCAGCCACTTGTCCTTTGTAG	0.473										HNSCC(27;0.073)			6	486	---	---	---	---	0	0
OR8J1	219477	broad.mit.edu	37	11	56128312	56128312	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:56128312C>T	ENST00000303039.3	+	1	622	c.590C>T	c.(589-591)aCa>aTa	p.T197I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T197I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTACCAGAAACAGTTGTCTTT	0.294													50	140	---	---	---	---	0	0
DYRK2	8445	broad.mit.edu	37	12	68050894	68050894	+	Silent	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr12:68050894C>A	ENST00000344096.3	+	3	620	c.207C>A	c.(205-207)ggC>ggA	p.G69G	DYRK2_ENST00000393555.3_5'UTR	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	69					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G69G(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		AGATTGGCGGCAGTAAGCACA	0.473													3	90	---	---	---	---	0	0
UTP20	27340	broad.mit.edu	37	12	101764854	101764854	+	Silent	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr12:101764854C>T	ENST00000261637.4	+	51	6880	c.6706C>T	c.(6706-6708)Ctg>Ttg	p.L2236L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2236					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.L2236L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCAAGAAAGCTGTTGGTCCC	0.448													56	218	---	---	---	---	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103599852	103599852	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr14:103599852C>A	ENST00000560869.1	+	10	2338	c.1699C>A	c.(1699-1701)Cac>Aac	p.H567N	TNFAIP2_ENST00000333007.1_Missense_Mutation_p.H567N|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.H50N|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.H236N			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	567					angiogenesis|cell differentiation	extracellular space		p.H567N(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CTGCACCCAGCACGTAAGCCG	0.627													3	50	---	---	---	---	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49329843	49329843	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr15:49329843T>A	ENST00000559471.1	-	2	411	c.148A>T	c.(148-150)Att>Ttt	p.I50F	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I50F	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	50								p.I50F(1)|p.I50V(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TAGCTGGGAATTGGAGTTGGT	0.398													34	82	---	---	---	---	0	0
ATP8B4	79895	broad.mit.edu	37	15	50190384	50190384	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr15:50190384A>G	ENST00000284509.6	-	22	2495	c.2354T>C	c.(2353-2355)gTa>gCa	p.V785A	ATP8B4_ENST00000559829.1_Missense_Mutation_p.V785A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	785					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V785A(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCAGCAAATTACAGTCTTACA	0.423													4	154	---	---	---	---	0	0
PIWIL3	440822	broad.mit.edu	37	22	25144942	25144942	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr22:25144942C>A	ENST00000332271.5	-	12	1797	c.1381G>T	c.(1381-1383)Gat>Tat	p.D461Y	PIWIL3_ENST00000533313.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D352Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	461					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.D461Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAATTGGTATCAAATTTCAAA	0.348													46	137	---	---	---	---	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830386	26830386	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr22:26830386G>A	ENST00000215906.5	+	2	1243	c.805G>A	c.(805-807)Gcg>Acg	p.A269T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	269					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	p.A243T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTGGGAACGCGTGCATCTC	0.547													51	206	---	---	---	---	0	0
CLCA2	9635	broad.mit.edu	37	1	86916415	86916415	+	Splice_Site	SNP	C	C	T	rs140158852		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:86916415C>T	ENST00000370565.4	+	12	2316	c.2154C>T	c.(2152-2154)aaC>aaT	p.N718N	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	718					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.N718N(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACACAGCAAACGGTAAGAACC	0.448													31	203	---	---	---	---	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105861	151105861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:151105861C>T	ENST00000341697.3	-	19	3583	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	631						integral to membrane	receptor activity	p.R631H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCGGTGGGCGCGGCGACAAGC	0.716													3	24	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	185880818	185880818	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:185880818A>C	ENST00000271588.4	+	6	1035	c.806A>C	c.(805-807)aAa>aCa	p.K269T	HMCN1_ENST00000367492.2_Missense_Mutation_p.K269T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	269					response to stimulus|visual perception	basement membrane	calcium ion binding	p.K269T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGCTGATAAAAAAGGGATTT	0.393													24	389	---	---	---	---	0	0
CPS1	1373	broad.mit.edu	37	2	211421556	211421556	+	Silent	SNP	A	A	G			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:211421556A>G	ENST00000233072.5	+	1	295	c.99A>G	c.(97-99)agA>agG	p.R33R	CPS1_ENST00000430249.2_Silent_p.R39R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	33					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.R33R(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AATTTTCAAGACCTGGCATCA	0.403													13	235	---	---	---	---	0	0
ABCA12	26154	broad.mit.edu	37	2	215914419	215914419	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:215914419G>T	ENST00000272895.7	-	6	843	c.624C>A	c.(622-624)aaC>aaA	p.N208K		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	208					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.N208K(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGCAAAATTTGTTAAAAACAT	0.383													28	103	---	---	---	---	0	0
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29231318	29231318	+	RNA	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:29231318G>A	ENST00000441381.1	+	0	79																		p.S180F(1)									GACCATTGCAGATATTTCACA	0.433													48	118	---	---	---	---	0	0
MICB	4277	broad.mit.edu	37	6	31477560	31477560	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:31477560G>T	ENST00000252229.6	+	6	1105	c.1026G>T	c.(1024-1026)gaG>gaT	p.E342D	MICB_ENST00000538442.1_Splice_Site_p.E310D|MICB_ENST00000399150.3_Splice_Site_p.E299D	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	342					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	p.E342D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CTTCTCCAGAGCTTGTGAGCC	0.522													30	136	---	---	---	---	0	0
FAM83B	222584	broad.mit.edu	37	6	54735357	54735357	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:54735357G>A	ENST00000306858.7	+	2	429	c.313G>A	c.(313-315)Gac>Aac	p.D105N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	105								p.D105N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCCAAATCTTGACTTAGGCTG	0.463													114	216	---	---	---	---	0	0
COL21A1	0	broad.mit.edu	37	6	56035897	56035897	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:56035897C>A	ENST00000244728.5	-	4	1067	c.670G>T	c.(670-672)Gca>Tca	p.A224S	COL21A1_ENST00000370819.1_Missense_Mutation_p.A224S|COL21A1_ENST00000535941.1_Missense_Mutation_p.A224S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	224					cell adhesion	collagen|cytoplasm	structural molecule activity	p.A224S(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCACGAGCTGCCACTGGAATT	0.318													36	92	---	---	---	---	0	0
TTYH3	80727	broad.mit.edu	37	7	2698620	2698620	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr7:2698620C>G	ENST00000258796.7	+	13	1676	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	TTYH3_ENST00000407643.1_Missense_Mutation_p.L459V|TTYH3_ENST00000403167.1_Missense_Mutation_p.L320V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	491						chloride channel complex|plasma membrane	chloride channel activity	p.L491V(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GAACACCCCACTCATTGGGCG	0.647													16	175	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151845693	151845693	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr7:151845693T>C	ENST00000355193.2	-	53	13708	c.13490A>G	c.(13489-13491)tAt>tGt	p.Y4497C	KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C					lysine (K)-specific methyltransferase 2C									p.Y4497C(1)|p.Y4440C(1)									CTGAGTCTCATAGACCTCCGT	0.507													70	195	---	---	---	---	0	0
ARHGEF39	84904	broad.mit.edu	37	9	35662634	35662634	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:35662634G>T	ENST00000378387.3	-	7	895	c.778C>A	c.(778-780)Cct>Act	p.P260T	ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.P224T|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2			Rho guanine nucleotide exchange factor (GEF) 39									p.P260T(1)									GGAGGCCGAGGCTTGGCCATG	0.632													21	23	---	---	---	---	0	0
ARHGEF39	84904	broad.mit.edu	37	9	35662635	35662635	+	Silent	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:35662635C>T	ENST00000378387.3	-	7	894	c.777G>A	c.(775-777)aaG>aaA	p.K259K	ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Silent_p.K223K|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2			Rho guanine nucleotide exchange factor (GEF) 39									p.K259K(1)									GAGGCCGAGGCTTGGCCATGA	0.632													20	23	---	---	---	---	0	0
ROR2	4920	broad.mit.edu	37	9	94486051	94486051	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:94486051C>T	ENST00000375708.3	-	9	2923	c.2725G>A	c.(2725-2727)Gtg>Atg	p.V909M	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	909					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.V909M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTTCCTGCACGGTGCTCTGG	0.637													39	185	---	---	---	---	0	0
TTLL11	158135	broad.mit.edu	37	9	124752018	124752018	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:124752018C>A	ENST00000321582.5	-	4	1182	c.995G>T	c.(994-996)tGg>tTg	p.W332L	TTLL11_ENST00000373776.3_Missense_Mutation_p.W332L|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	332	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.W332L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGTGGGCTTCCAGGAGGGGTC	0.512													66	240	---	---	---	---	0	0
MKI67	4288	broad.mit.edu	37	10	129900972	129900972	+	Silent	SNP	G	G	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr10:129900972G>C	ENST00000368654.3	-	13	9507	c.9132C>G	c.(9130-9132)ccC>ccG	p.P3044P	MKI67_ENST00000368653.3_Silent_p.P2684P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3044					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.P3044P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGATGACCACGGGTTCGGATG	0.517													10	296	---	---	---	---	0	0
EED	8726	broad.mit.edu	37	11	85968564	85968564	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr11:85968564T>G	ENST00000263360.6	+	6	1246	c.560T>G	c.(559-561)gTt>gGt	p.V187G	EED_ENST00000351625.6_Missense_Mutation_p.V187G|EED_ENST00000528180.1_Missense_Mutation_p.V187G|EED_ENST00000327320.4_Missense_Mutation_p.V187G	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	187	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	p.V187G(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TAGCACTATGTTGGCCATGGA	0.303													4	90	---	---	---	---	0	0
PKP2	5318	broad.mit.edu	37	12	32975445	32975445	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:32975445T>C	ENST00000340811.4	-	8	1903	c.1795A>G	c.(1795-1797)Aaa>Gaa	p.K599E	PKP2_ENST00000070846.6_Missense_Mutation_p.K643E	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	643					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.K643E(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAATACTTTTGTTGTTGTCA	0.403													11	125	---	---	---	---	0	0
DNAH10	196385	broad.mit.edu	37	12	124395093	124395093	+	Silent	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:124395093G>A	ENST00000409039.3	+	58	9679	c.9654G>A	c.(9652-9654)aaG>aaA	p.K3218K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3218	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1810K(1)|p.K3218K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCTCTTGAAGACTCTTAATA	0.388													12	219	---	---	---	---	0	0
TYRO3	7301	broad.mit.edu	37	15	41860444	41860444	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:41860444G>A	ENST00000263798.3	+	8	1215	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	TYRO3_ENST00000559066.1_Missense_Mutation_p.A286T	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	331	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A331T(1)|p.A323T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAACCTCCATGCCATCCGCAC	0.572													17	74	---	---	---	---	0	0
SMAD3	4088	broad.mit.edu	37	15	67477178	67477178	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:67477178G>T	ENST00000327367.4	+	7	1295	c.985G>T	c.(985-987)Gcc>Tcc	p.A329S	SMAD3_ENST00000540846.2_Missense_Mutation_p.A224S|SMAD3_ENST00000537194.2_Missense_Mutation_p.A134S|SMAD3_ENST00000439724.3_Missense_Mutation_p.A285S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	329	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	p.A329S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTGGCACCCGGCCACCGTCTG	0.597													7	36	---	---	---	---	0	0
CHD2	1106	broad.mit.edu	37	15	93524064	93524064	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:93524064G>C	ENST00000394196.4	+	23	3964	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	CHD2_ENST00000557381.1_Missense_Mutation_p.E966Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	966	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E966Q(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTTTAATAAAGAAGAGCTGAC	0.368													12	105	---	---	---	---	0	0
SMARCE1	6605	broad.mit.edu	37	17	38792754	38792754	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:38792754T>C	ENST00000348513.6	-	6	1042	c.262A>G	c.(262-264)Aac>Gac	p.N88D	SMARCE1_ENST00000400122.3_Missense_Mutation_p.N18D|SMARCE1_ENST00000578044.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000431889.2_Missense_Mutation_p.N70D|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.N53D|SMARCE1_ENST00000377808.4_Missense_Mutation_p.N53D|SMARCE1_ENST00000544009.1_Missense_Mutation_p.N18D	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	88					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	p.N88D(1)		large_intestine(1)	1		Breast(137;0.000812)				AGGTCAGGGTTGGAAGCCTTT	0.363													68	179	---	---	---	---	0	0
NAGS	162417	broad.mit.edu	37	17	42085837	42085837	+	Silent	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:42085837C>T	ENST00000293404.3	+	7	1591	c.1473C>T	c.(1471-1473)ggC>ggT	p.G491G		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	491	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	p.G491G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	ACAGTGATGGCAGCTTCTCCA	0.498													27	320	---	---	---	---	0	0
DDX42	11325	broad.mit.edu	37	17	61864525	61864525	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:61864525T>C	ENST00000578681.1	+	3	717	c.116T>C	c.(115-117)tTt>tCt	p.F39S	DDX42_ENST00000457800.2_Missense_Mutation_p.F39S|DDX42_ENST00000389924.2_Missense_Mutation_p.F39S|DDX42_ENST00000583590.1_Missense_Mutation_p.F39S|DDX42_ENST00000359353.5_Intron	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	39					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.F39S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CACAGTGCCTTTGGGGCAACC	0.502													15	222	---	---	---	---	0	0
WDR7	23335	broad.mit.edu	37	18	54591238	54591238	+	Silent	SNP	G	G	A	rs149456946	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr18:54591238G>A	ENST00000254442.3	+	22	3823	c.3612G>A	c.(3610-3612)ctG>ctA	p.L1204L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.L1171L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1204								p.L1204L(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCATTGATCTGATTGGACGTG	0.498													10	122	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9056757	9056757	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr19:9056757G>T	ENST00000397910.4	-	3	30892	c.30689C>A	c.(30688-30690)cCc>cAc	p.P10230H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10232	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5863H(1)|p.P10230H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCATTAAAGGGGGTGATTAT	0.448													10	94	---	---	---	---	0	0
GPR112	139378	broad.mit.edu	37	X	135431329	135431329	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chrX:135431329C>A	ENST00000394143.1	+	6	5755	c.5464C>A	c.(5464-5466)Cca>Aca	p.P1822T	GPR112_ENST00000412101.1_Missense_Mutation_p.P1617T|GPR112_ENST00000370652.1_Missense_Mutation_p.P1822T|GPR112_ENST00000394141.1_Missense_Mutation_p.P1617T|GPR112_ENST00000287534.4_Missense_Mutation_p.P1759T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1822					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1822T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCATACCCTCCATGGACCCC	0.408													15	143	---	---	---	---	0	0
ATG4C	84938	broad.mit.edu	37	1	63307165	63307165	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:63307165T>C	ENST00000317868.4	+	10	1363	c.1156T>C	c.(1156-1158)Ttt>Ctt	p.F386L	ATG4C_ENST00000371120.3_Missense_Mutation_p.F386L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	386					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity	p.F386L(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TACAATAGGATTTTACTGTCG	0.303													4	137	---	---	---	---	0	0
DEPDC1	55635	broad.mit.edu	37	1	68947728	68947728	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:68947728C>A	ENST00000456315.2	-	8	1877		c.e8+1		RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1						intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AACAGCCTTACTTTGTGTGCC	0.353													87	111	---	---	---	---	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185486	92185486	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:92185486C>T	ENST00000212355.4	-	9	1842	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E	TGFBR3_ENST00000525962.1_Silent_p.E459E|TGFBR3_ENST00000370399.2_Silent_p.E458E	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	459	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.E459E(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGATCATCTTCTCATTGTCAC	0.502													7	221	---	---	---	---	0	0
REG4	83998	broad.mit.edu	37	1	120342381	120342381	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:120342381C>T	ENST00000354219.1	-	5	709	c.270G>A	c.(268-270)caG>caA	p.Q90Q	REG4_ENST00000530654.1_Silent_p.Q90Q|REG4_ENST00000256585.5_Silent_p.Q90Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	90	C-type lectin.					extracellular region	sugar binding	p.Q90Q(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TCCATATCGGCTGGCTTCTCT	0.522													20	322	---	---	---	---	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153274900	153274900	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:153274900C>A	ENST00000290722.1	-	5	765	c.713G>T	c.(712-714)tGt>tTt	p.C238F		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	238					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.C238F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCAATGTCACAAAAGTTCCG	0.473													104	469	---	---	---	---	0	0
PM20D1	148811	broad.mit.edu	37	1	205817085	205817085	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:205817085G>T	ENST00000367136.4	-	2	228	c.184C>A	c.(184-186)Cca>Aca	p.P62T	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	62						extracellular region	metal ion binding|peptidase activity	p.P62T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTCACTGTTGGAATCTGGATG	0.408													57	84	---	---	---	---	0	0
ADCK3	56997	broad.mit.edu	37	1	227153070	227153070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:227153070C>T	ENST00000366779.1	+	8	3318	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Nonsense_Mutation_p.Q183*|ADCK3_ENST00000366778.1_Nonsense_Mutation_p.Q131*			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	183					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	p.Q183*(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GAAGGCCCGGCAGGCTAAGGC	0.617													30	3	---	---	---	---	0	0
ARID4B	51742	broad.mit.edu	37	1	235490233	235490233	+	Translation_Start_Site	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:235490233A>C	ENST00000264183.3	-	2	499	c.2T>G	c.(1-3)aTg>aGg	p.M1R	ARID4B_ENST00000366603.2_Start_Codon_SNP_p.M1R|ARID4B_ENST00000349213.3_Start_Codon_SNP_p.M1R	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.M1R(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTACCTTCATGATGACTCT	0.522													136	28	---	---	---	---	0	0
IWS1	55677	broad.mit.edu	37	2	128262862	128262862	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:128262862G>A	ENST00000295321.4	-	3	876	c.617C>T	c.(616-618)cCt>cTt	p.P206L	IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.P213L|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	206	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding	p.P206L(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACTCATTCGAGGTTTGGGAGG	0.493													101	250	---	---	---	---	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266097	41266097	+	Missense_Mutation	SNP	G	G	C	rs28931588		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:41266097G>C	ENST00000349496.5	+	3	374	c.94G>C	c.(94-96)Gac>Cac	p.D32H	CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTCTTACCTGGACTCTGGAAT	0.478	D32N(KE39_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				19	31	---	---	---	---	0	0
NAAA	27163	broad.mit.edu	37	4	76861916	76861916	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:76861916C>G	ENST00000286733.4	-	1	288	c.187G>C	c.(187-189)Gcg>Ccg	p.A63P	NAAA_ENST00000507187.2_Missense_Mutation_p.A63P|NAAA_ENST00000399497.3_Missense_Mutation_p.A63P|NAAA_ENST00000507956.1_Missense_Mutation_p.A63P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	63					lipid metabolic process	lysosome	hydrolase activity	p.A63P(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						TGCGCCATCGCGGCGCGCACC	0.706													14	53	---	---	---	---	0	0
MTTP	4547	broad.mit.edu	37	4	100534280	100534280	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:100534280C>A	ENST00000457717.1	+	16	2456	c.2200C>A	c.(2200-2202)Cta>Ata	p.L734I	MTTP_ENST00000265517.5_Missense_Mutation_p.L734I|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.L761I	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	734					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.L734I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ACTTATTCTGCTAATAGATCA	0.408													39	34	---	---	---	---	0	0
TACR3	6870	broad.mit.edu	37	4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	403						integral to plasma membrane	tachykinin receptor activity	p.V403M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498													166	232	---	---	---	---	0	0
MEF2C	4208	broad.mit.edu	37	5	88027676	88027676	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr5:88027676A>G	ENST00000504921.2	-	7	1352	c.680T>C	c.(679-681)gTc>gCc	p.V227A	MEF2C_ENST00000539796.1_Missense_Mutation_p.V179A|MEF2C_ENST00000510942.1_Missense_Mutation_p.V227A|MEF2C_ENST00000506554.1_Missense_Mutation_p.V227A|MEF2C_ENST00000508569.1_Missense_Mutation_p.V227A|MEF2C_ENST00000340208.5_Missense_Mutation_p.V245A|MEF2C_ENST00000424173.2_Missense_Mutation_p.V225A|MEF2C_ENST00000514015.1_Missense_Mutation_p.V227A|MEF2C_ENST00000437473.2_Missense_Mutation_p.V227A|MEF2C_ENST00000514028.1_Missense_Mutation_p.V227A			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	227					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V225A(1)|p.V227A(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ACCAGGTGAGACCAGCAGACC	0.413										HNSCC(66;0.2)			28	45	---	---	---	---	0	0
AIM1	202	broad.mit.edu	37	6	106969054	106969054	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:106969054T>A	ENST00000369066.3	+	2	3234	c.2747T>A	c.(2746-2748)tTg>tAg	p.L916*		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	916							sugar binding	p.L916*(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CACTCCAGTTTGAAAAGTCCA	0.423													11	167	---	---	---	---	0	0
DCBLD1	285761	broad.mit.edu	37	6	117824981	117824981	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:117824981C>G	ENST00000338728.5	+	2	284	c.164C>G	c.(163-165)tCt>tGt	p.S55C	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S55C|DCBLD1_ENST00000368503.4_Missense_Mutation_p.S55C			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	55	CUB.				cell adhesion	integral to membrane		p.S55C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ACAATGACATCTAAGAATTAT	0.428													65	99	---	---	---	---	0	0
ENPP1	5167	broad.mit.edu	37	6	132195477	132195477	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:132195477A>G	ENST00000360971.2	+	16	1655	c.1635A>G	c.(1633-1635)caA>caG	p.Q545Q		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	545	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.Q493Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAAATATGCAAGTGAGTAAAC	0.279													10	252	---	---	---	---	0	0
OSBPL3	26031	broad.mit.edu	37	7	24874112	24874112	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr7:24874112T>C	ENST00000313367.2	-	15	2190	c.1739A>G	c.(1738-1740)gAa>gGa	p.E580G	OSBPL3_ENST00000409069.1_Missense_Mutation_p.E513G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E513G|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E549G	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	580					lipid transport		lipid binding|protein binding	p.E580G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CACCATCCTTTCCAGGGGGCT	0.642													66	116	---	---	---	---	0	0
TNKS	8658	broad.mit.edu	37	8	9605603	9605603	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:9605603A>T	ENST00000310430.6	+	18	2739	c.2713A>T	c.(2713-2715)Act>Tct	p.T905S	TNKS_ENST00000518281.1_Missense_Mutation_p.T668S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	905					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.T905S(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTGGGCGTTTACTCCCCTCCA	0.478													63	36	---	---	---	---	0	0
PRSS55	203074	broad.mit.edu	37	8	10388864	10388864	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:10388864T>C	ENST00000328655.3	+	3	447	c.407T>C	c.(406-408)aTa>aCa	p.I136T	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.I136T	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	136	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.I136T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TCCATGGAAATAAAGGAGGTC	0.517													169	63	---	---	---	---	0	0
NEFM	4741	broad.mit.edu	37	8	24775968	24775968	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:24775968A>T	ENST00000221166.5	+	3	3382	c.2600A>T	c.(2599-2601)gAt>gTt	p.D867V	NEFM_ENST00000518131.1_Missense_Mutation_p.D649V|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.D828V|NEFM_ENST00000433454.2_Missense_Mutation_p.D491V			P07197	NFM_HUMAN	neurofilament, medium polypeptide	867	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton	p.D867V(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GAGGGGGGAGATGGTGCTACC	0.438													55	14	---	---	---	---	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537016	65537016	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:65537016C>A	ENST00000310193.3	-	2	376	c.203G>T	c.(202-204)aGg>aTg	p.R68M		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	68					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.R68M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTTCATGAACCTTAAGGGGTC	0.383													84	383	---	---	---	---	0	0
CCNE2	9134	broad.mit.edu	37	8	95895044	95895044	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:95895044T>G	ENST00000520509.1	-	10	1160	c.908A>C	c.(907-909)cAt>cCt	p.H303P	CCNE2_ENST00000308108.4_Missense_Mutation_p.H303P|CCNE2_ENST00000396133.3_Missense_Mutation_p.H303P			O96020	CCNE2_HUMAN	cyclin E2	303					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	p.H303P(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGAGGTAAAATGGCACAAGGC	0.383													89	371	---	---	---	---	0	0
TRPS1	7227	broad.mit.edu	37	8	116426955	116426955	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:116426955C>T	ENST00000395715.3	-	7	3758	c.3181G>A	c.(3181-3183)Gat>Aat	p.D1061N	TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052N|TRPS1_ENST00000220888.5_Missense_Mutation_p.D1048N|TRPS1_ENST00000519076.1_Missense_Mutation_p.D802N	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1048	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D1061N(2)|p.D1048N(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTCCTGGATCTCCAGTACTT	0.438									Langer-Giedion syndrome				8	519	---	---	---	---	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136554944	136554944	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:136554944G>T	ENST00000355849.5	+	3	665	c.255G>T	c.(253-255)aaG>aaT	p.K85N	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	85	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.K85N(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATTCTCTGAAGCGTTTACAAG	0.368													87	366	---	---	---	---	0	0
TBC1D2	55357	broad.mit.edu	37	9	100991289	100991289	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:100991289A>C	ENST00000375066.5	-	5	1014	c.923T>G	c.(922-924)gTg>gGg	p.V308G	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.V308G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V90G	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	308	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	p.V308G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAGGCTGCCACTTTCTCCTG	0.542													61	88	---	---	---	---	0	0
COL27A1	85301	broad.mit.edu	37	9	117068939	117068939	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:117068939T>C	ENST00000356083.3	+	58	5469	c.5078T>C	c.(5077-5079)cTc>cCc	p.L1693P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1693	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent	p.L1693P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCAGGGACCTCATGGACTGT	0.582											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	58	---	---	---	---	0	0
CHAT	1103	broad.mit.edu	37	10	50854677	50854677	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:50854677A>T	ENST00000395562.2	+	9	1461	c.992A>T	c.(991-993)tAc>tTc	p.Y331F	CHAT_ENST00000339797.1_Missense_Mutation_p.Y295F|CHAT_ENST00000337653.2_Missense_Mutation_p.Y413F|CHAT_ENST00000351556.3_Missense_Mutation_p.Y295F|CHAT_ENST00000455728.2_Missense_Mutation_p.Y295F|CHAT_ENST00000395559.2_Missense_Mutation_p.Y295F	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	413					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.Y413F(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGCGGAGGCTACAGCAAGAAC	0.632													33	48	---	---	---	---	0	0
GPR123	84435	broad.mit.edu	37	10	134942935	134942935	+	Silent	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:134942935T>C	ENST00000607359.1	+	16	3760	c.3760T>C	c.(3760-3762)Ttg>Ctg	p.L1254L	GPR123_ENST00000392607.3_Silent_p.L535L|GPR123_ENST00000392606.2_Silent_p.L438L			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	535						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L1254L(1)|p.L535L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CAAGGGTAAATTGCTAGAAGG	0.632													16	18	---	---	---	---	0	0
GTF2H1	2965	broad.mit.edu	37	11	18362866	18362866	+	Silent	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:18362866A>G	ENST00000265963.4	+	6	826	c.666A>G	c.(664-666)acA>acG	p.T222T	GTF2H1_ENST00000524753.4_Silent_p.T18T|GTF2H1_ENST00000534641.1_Silent_p.T106T|GTF2H1_ENST00000453096.2_Silent_p.T222T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	222	BSD 2.				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	p.T222T(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AATTCTGGACACGTTTTTTCC	0.363								Nucleotide excision repair (NER)					53	99	---	---	---	---	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958582	57958582	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:57958582T>G	ENST00000311591.3	+	1	677	c.620T>G	c.(619-621)aTg>aGg	p.M207R		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M207R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTTTTCGTCATGCCTGCCTGT	0.488													57	95	---	---	---	---	0	0
FGFR1OP2	26127	broad.mit.edu	37	12	27109591	27109591	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:27109591A>G	ENST00000229395.3	+	3	593	c.251A>G	c.(250-252)aAa>aGa	p.K84R	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.K84R|FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.K84R	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	84						cytoplasm		p.K84R(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					CAAGAAAACAAAGGTAAGATA	0.388													35	67	---	---	---	---	0	0
GLI1	2735	broad.mit.edu	37	12	57864730	57864730	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:57864730A>T	ENST00000228682.2	+	12	2298	c.2207A>T	c.(2206-2208)gAa>gTa	p.E736V	GLI1_ENST00000543426.1_Missense_Mutation_p.E608V|GLI1_ENST00000546141.1_Missense_Mutation_p.E695V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	736					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.E736V(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGGGACCTGAAGGGGCAGCA	0.602													69	129	---	---	---	---	0	0
CCDC41	51134	broad.mit.edu	37	12	94763729	94763729	+	Silent	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:94763729T>C	ENST00000397809.5	-	9	1566	c.1017A>G	c.(1015-1017)agA>agG	p.R339R	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Silent_p.R306R|CCDC41_ENST00000547575.1_Silent_p.R339R|CCDC41_ENST00000339839.5_Silent_p.R339R	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	331								p.R339R(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TATTCCTTTCTCTTTCTAGCT	0.333													5	411	---	---	---	---	0	0
RNF6	6049	broad.mit.edu	37	13	26788080	26788080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:26788080G>A	ENST00000381588.4	-	5	2691	c.1939C>T	c.(1939-1941)Caa>Taa	p.Q647*	RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q291*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	647	Required for polyubiquitination (By similarity).				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q647*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CAAGGTAATTGCCTGAGCTTG	0.408													82	39	---	---	---	---	0	0
MYCBP2	23077	broad.mit.edu	37	13	77718680	77718680	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:77718680C>T	ENST00000407578.2	-	49	7469	c.7203G>A	c.(7201-7203)atG>atA	p.M2401I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.M2363I|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M2363I|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.M2363I(2)|p.M2401I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACGGATCAGCATATTCTCAC	0.368													14	106	---	---	---	---	0	0
PROZ	8858	broad.mit.edu	37	13	113824784	113824784	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:113824784A>C	ENST00000342783.4	+	8	704	c.697A>C	c.(697-699)Aat>Cat	p.N233H	PROZ_ENST00000375547.2_Missense_Mutation_p.N211H|PROZ_ENST00000493630.1_3'UTR	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	211	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	p.N211H(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AATACGGGAAAATTTTGTACT	0.303													5	70	---	---	---	---	0	0
UNC79	57578	broad.mit.edu	37	14	94004551	94004551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr14:94004551G>T	ENST00000553484.1	+	12	1493	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.E270*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E447*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E447*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	447						integral to membrane		p.E447*(1)|p.E270*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGCGCCGTGGAAGCCGTGAT	0.557													16	15	---	---	---	---	0	0
TRPM1	4308	broad.mit.edu	37	15	31294406	31294406	+	Silent	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:31294406G>A	ENST00000542188.1	-	27	4861	c.4548C>T	c.(4546-4548)atC>atT	p.I1516I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.I1477I|TRPM1_ENST00000256552.6_Silent_p.I1499I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1477					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.I1477I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAGAGCGCGTGATCTTTTGAA	0.478													12	452	---	---	---	---	0	0
MYO5C	55930	broad.mit.edu	37	15	52571856	52571856	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:52571856C>G	ENST00000261839.7	-	3	315	c.154G>C	c.(154-156)Gtc>Ctc	p.V52L	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	52	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V52L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTGGATTGACAGAATAATCC	0.468													29	30	---	---	---	---	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349140	30349140	+	Silent	SNP	A	A	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:30349140A>C	ENST00000327564.7	+	1	1117	c.1056A>C	c.(1054-1056)acA>acC	p.T352T	LRRC37B_ENST00000543378.2_Silent_p.T243T|LRRC37B_ENST00000584368.1_Silent_p.T337T|LRRC37B_ENST00000394713.3_Silent_p.T325T|LRRC37B_ENST00000341671.7_Silent_p.T325T			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	325						integral to membrane		p.T325T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATGAAGTGACAGTTCAACCTC	0.483													70	105	---	---	---	---	0	0
KRT25	147183	broad.mit.edu	37	17	38905556	38905556	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:38905556G>C	ENST00000312150.4	-	7	1257	c.1197C>G	c.(1195-1197)taC>taG	p.Y399*		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	399	Tail.					cytoplasm|intermediate filament	structural molecule activity	p.Y399*(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTTTAGACTTGTAACCCCCAG	0.353													12	280	---	---	---	---	0	0
SCN4A	6329	broad.mit.edu	37	17	62050100	62050100	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:62050100C>G	ENST00000578147.1	-	1	178	c.102G>C	c.(100-102)gaG>gaC	p.E34D	SCN4A_ENST00000435607.1_Missense_Mutation_p.E34D			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	34					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E34D(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGCCTCCTCCTCCACCGCCC	0.622													16	22	---	---	---	---	0	0
SMAD4	4089	broad.mit.edu	37	18	48604690	48604690	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr18:48604690T>A	ENST00000342988.3	+	12	2050	c.1512T>A	c.(1510-1512)agT>agA	p.S504R	SMAD4_ENST00000588745.1_Missense_Mutation_p.S408R|SMAD4_ENST00000398417.2_Missense_Mutation_p.S504R|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	504	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S504R(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGGATGAGTTTTGTGAAAG	0.488													7	69	---	---	---	---	0	0
ABCA7	10347	broad.mit.edu	37	19	1058148	1058148	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:1058148C>T	ENST00000263094.6	+	37	5260	c.5029C>T	c.(5029-5031)Ctg>Ttg	p.L1677L	ABCA7_ENST00000433129.1_Silent_p.L1677L|ABCA7_ENST00000435683.2_Silent_p.L1539L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1677					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.L1677L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCAGAAGCTGCAGGAGGT	0.612													38	10	---	---	---	---	0	0
MAP1S	55201	broad.mit.edu	37	19	17836873	17836873	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:17836873T>A	ENST00000324096.4	+	5	831	c.680T>A	c.(679-681)cTg>cAg	p.L227Q	MAP1S_ENST00000544059.2_Missense_Mutation_p.L201Q|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	227	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.L227Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TTCGAGCTGCTGGAGCCCCCG	0.687													32	25	---	---	---	---	0	0
LILRA4	23547	broad.mit.edu	37	19	54848198	54848198	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:54848198G>A	ENST00000291759.4	-	6	1225	c.1169C>T	c.(1168-1170)gCg>gTg	p.A390V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	390	Ig-like C2-type 4.					integral to membrane	receptor activity	p.A390V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTAGGTCCCCGCGTGGGCTGA	0.622													86	130	---	---	---	---	0	0
ZIK1	284307	broad.mit.edu	37	19	58101497	58101497	+	Silent	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:58101497C>T	ENST00000597850.1	+	4	533	c.318C>T	c.(316-318)gtC>gtT	p.V106V	ZIK1_ENST00000536878.2_Silent_p.V93V|ZIK1_ENST00000599456.1_Silent_p.V51V|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V106V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGATGTGTGTCCCAGTCCTGA	0.463													50	81	---	---	---	---	0	0
MYH7B	57644	broad.mit.edu	37	20	33575571	33575571	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr20:33575571G>T	ENST00000262873.7	+	16	1488	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	424	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.V466L(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTCCAGGTGGTGTTTGCTGT	0.662													6	171	---	---	---	---	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45503102	45503102	+	Silent	SNP	T	T	C			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:45503102T>C	ENST00000291574.4	+	14	2332	c.2157T>C	c.(2155-2157)gcT>gcC	p.A719A		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	719					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.A719A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGGGTGGCTCTGGAGGAGG	0.572													62	217	---	---	---	---	0	0
HDAC6	10013	broad.mit.edu	37	X	48673411	48673411	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chrX:48673411C>T	ENST00000334136.5	+	14	1280	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	HDAC6_ENST00000376619.2_Missense_Mutation_p.H368Y|HDAC6_ENST00000444343.2_Missense_Mutation_p.H382Y			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	368	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.H368Y(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCAGCTAACCCACCTGCTCAT	0.642													7	6	---	---	---	---	0	0
MTHFR	4524	broad.mit.edu	37	1	11855381	11855381	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr1:11855381C>T	ENST00000376592.1	-	5	933	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	MTHFR_ENST00000376585.1_Missense_Mutation_p.V310M|MTHFR_ENST00000376583.3_Missense_Mutation_p.V310M|MTHFR_ENST00000376590.3_Missense_Mutation_p.V269M			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	269					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	p.V269M(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GACAGCTTCACAAGCTGCCGA	0.582													19	44	---	---	---	---	0	0
PROX1	5629	broad.mit.edu	37	1	214171237	214171237	+	Silent	SNP	C	C	T			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr1:214171237C>T	ENST00000366958.4	+	2	1967	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	PROX1_ENST00000498508.2_Silent_p.S453S|PROX1_ENST00000261454.4_Silent_p.S453S|PROX1_ENST00000435016.1_Silent_p.S453S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	453					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.S453S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGTCTGCCTCCGGCCCTGCCG	0.647													27	85	---	---	---	---	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975914	76975914	+	Silent	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr2:76975914G>A	ENST00000409911.1	-	3	1906	c.1683C>T	c.(1681-1683)agC>agT	p.S561S	LRRTM4_ENST00000409093.1_Silent_p.S560S|LRRTM4_ENST00000409884.1_Silent_p.S560S	NM_001134745.1|NM_001282924.1	NP_001128217.1|NP_001269853.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	560						integral to membrane		p.S560S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCAGGCCGGGGCTTTCGTCCT	0.587													54	165	---	---	---	---	0	0
PTCD3	55037	broad.mit.edu	37	2	86360495	86360495	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr2:86360495G>A	ENST00000254630.7	+	19	1545	c.1479G>A	c.(1477-1479)atG>atA	p.M493I		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	493						mitochondrion	protein binding	p.M493I(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CCCAAACAATGATACATCTTC	0.373													16	309	---	---	---	---	0	0
EFHB	151651	broad.mit.edu	37	3	19924217	19924217	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:19924217G>C	ENST00000295824.9	-	12	2314	c.2153C>G	c.(2152-2154)cCc>cGc	p.P718R	EFHB_ENST00000344838.4_Missense_Mutation_p.P588R	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	718					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.P718R(2)|p.P716R(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ACCACAAATGGGGTAACCTAG	0.428													11	31	---	---	---	---	0	0
BSN	8927	broad.mit.edu	37	3	49698154	49698154	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:49698154G>A	ENST00000296452.4	+	6	8990	c.8876G>A	c.(8875-8877)cGc>cAc	p.R2959H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2959					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.R2959H(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCAAACTGCGCAAGAAGCAG	0.602													4	31	---	---	---	---	0	0
PIK3CA	5290	broad.mit.edu	37	3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	rs121913272		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type.		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	205	---	---	---	---	0	0
RREB1	6239	broad.mit.edu	37	6	7230059	7230059	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr6:7230059G>A	ENST00000379938.2	+	10	2264	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	RREB1_ENST00000334984.6_Missense_Mutation_p.R576Q|RREB1_ENST00000379933.3_Missense_Mutation_p.R576Q|RREB1_ENST00000349384.6_Missense_Mutation_p.R576Q	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	576					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.R576Q(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCGGCCACGCGGCTCTCCCTG	0.711													4	13	---	---	---	---	0	0
URGCP	55665	broad.mit.edu	37	7	43918497	43918497	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr7:43918497C>A	ENST00000336086.6	-	4	2672	c.436G>T	c.(436-438)Gcc>Tcc	p.A146S	URGCP_ENST00000443736.1_Missense_Mutation_p.A146S|URGCP_ENST00000447717.3_Missense_Mutation_p.A146S|URGCP_ENST00000402306.3_Missense_Mutation_p.A180S|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.A146S|URGCP_ENST00000453200.1_Missense_Mutation_p.A189S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	189					cell cycle	centrosome|nucleus	GTP binding	p.A146S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCAGCAGGGCACAGAGAAGG	0.532													21	54	---	---	---	---	0	0
LCN2	3934	broad.mit.edu	37	9	130914560	130914560	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr9:130914560A>G	ENST00000540948.1	+	5	647	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	LCN2_ENST00000277480.2_Missense_Mutation_p.I192V|LCN2_ENST00000373017.1_Missense_Mutation_p.I192V|LCN2_ENST00000372998.1_Missense_Mutation_p.I194V|LCN2_ENST00000373013.2_Missense_Mutation_p.I194V|LCN2_ENST00000470902.1_3'UTR			P80188	NGAL_HUMAN	lipocalin 2	192					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.I192V(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CCCTGTCCCAATCGGTAATGG	0.562													23	48	---	---	---	---	0	0
ACER3	55331	broad.mit.edu	37	11	76730798	76730798	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr11:76730798T>G	ENST00000532485.1	+	10	832	c.728T>G	c.(727-729)cTg>cGg	p.L243R	ACER3_ENST00000526597.1_Missense_Mutation_p.L148R|ACER3_ENST00000538157.1_Missense_Mutation_p.L201R|ACER3_ENST00000533873.1_Missense_Mutation_p.L206R|ACER3_ENST00000544113.1_Missense_Mutation_p.L110R	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	243					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity	p.L243R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						ACACTTTACCTGAGATATAGG	0.428													35	193	---	---	---	---	0	0
BANP	54971	broad.mit.edu	37	16	88061088	88061088	+	Splice_Site	SNP	G	G	C			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr16:88061088G>C	ENST00000393207.1	+	8	1092		c.e8-1		BANP_ENST00000538234.1_Splice_Site|BANP_ENST00000286122.7_Splice_Site|BANP_ENST00000355022.4_Splice_Site|BANP_ENST00000355163.5_Splice_Site|BANP_ENST00000479780.2_Splice_Site|BANP_ENST00000393208.2_Splice_Site	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein						cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.?(2)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		TGTCCTTCCAGGTCACCTTTT	0.612													10	111	---	---	---	---	0	0
CXCL16	58191	broad.mit.edu	37	17	4638741	4638741	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr17:4638741G>T	ENST00000293778.6	-	4	843	c.421C>A	c.(421-423)Cca>Aca	p.P141T	CXCL16_ENST00000574412.1_Missense_Mutation_p.P141T|CXCL16_ENST00000576153.1_5'UTR	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	122					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						TGAGAAATTGGGGGGCTGGTA	0.547													3	48	---	---	---	---	0	0
PPP4R1	9989	broad.mit.edu	37	18	9547949	9547949	+	Splice_Site	SNP	G	G	C			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr18:9547949G>C	ENST00000400556.3	-	20	2764	c.2691C>G	c.(2689-2691)gaC>gaG	p.D897E	PPP4R1_ENST00000400555.3_Splice_Site_p.D880E	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	897					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	p.D897E(1)		large_intestine(1)|skin(2)	3						CCAAGAAATAGTCTGGAAATG	0.478													24	41	---	---	---	---	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671739	10671739	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr18:10671739C>T	ENST00000302079.6	-	51	7854	c.7855G>A	c.(7855-7857)Ggg>Agg	p.G2619R	PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2707R|PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2682R|PIEZO2_ENST00000538948.1_Missense_Mutation_p.G639R|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G474R			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2682						integral to membrane	ion channel activity	p.G2682R(1)|p.G474R(1)									ACAAATTTCCCAATCACAAGG	0.333													42	132	---	---	---	---	0	0
COMP	1311	broad.mit.edu	37	19	18898325	18898325	+	Silent	SNP	C	C	G			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr19:18898325C>G	ENST00000542601.2	-	9	1400	c.1011G>C	c.(1009-1011)gcG>gcC	p.A337A	COMP_ENST00000425807.1_Silent_p.A317A|COMP_ENST00000222271.2_Silent_p.A370A			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	370					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.A370A(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGTCGTCGCACGCATCGCCCC	0.697													39	149	---	---	---	---	0	0
KIF16B	55614	broad.mit.edu	37	20	16347999	16347999	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr20:16347999A>C	ENST00000408042.1	-	23	4128	c.3971T>G	c.(3970-3972)gTa>gGa	p.V1324G	KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.V1324G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GACTAGTTCTACTGTTGACAC	0.433													47	295	---	---	---	---	0	0
SAMSN1	64092	broad.mit.edu	37	21	15884893	15884893	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr21:15884893T>A	ENST00000285670.2	-	5	659	c.485A>T	c.(484-486)gAt>gTt	p.D162V	SAMSN1_ENST00000400566.1_Splice_Site_p.D94V|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	94					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.D162V(1)|p.D94V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATCTTCCTCATCCTTCAGAAA	0.413													55	146	---	---	---	---	0	0
FAM47B	170062	broad.mit.edu	37	X	34961794	34961794	+	Silent	SNP	T	T	C			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chrX:34961794T>C	ENST00000329357.5	+	1	882	c.846T>C	c.(844-846)caT>caC	p.H282H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	282	Pro-rich.							p.H282H(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAGCGTCCCATCTCTGCCCGG	0.622													32	25	---	---	---	---	0	0
XK	7504	broad.mit.edu	37	X	37553558	37553558	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chrX:37553558A>G	ENST00000378616.3	+	2	468	c.265A>G	c.(265-267)Atc>Gtc	p.I89V	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	89					amino acid transport	integral to membrane	protein binding|transporter activity	p.I89V(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGTCTTCTGCATCTACTTTCA	0.408													19	26	---	---	---	---	0	0
MT-ND5	4540	broad.mit.edu	37	M	13711	13711	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chrM:13711G>A	ENST00000361567.2	+	1	1375	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	459					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	AACGCCTGGCAGCCGGAAGCC	0.483													3	3	---	---	---	---	0	0
MIIP	60672	broad.mit.edu	37	1	12082418	12082418	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:12082418C>A	ENST00000235332.4	+	3	550	c.381C>A	c.(379-381)ccC>ccA	p.P127P	MIIP_ENST00000436478.2_Silent_p.P127P|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	127										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						ACCCAGAGCCCTCAGGGAGGC	0.657													4	72	---	---	---	---	0	0
VPS13D	55187	broad.mit.edu	37	1	12422900	12422900	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:12422900G>T	ENST00000358136.3	+	51	10396	c.10266G>T	c.(10264-10266)agG>agT	p.R3422S	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3397S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3421					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATTTGCCAGGGGACAGGTGA	0.433													9	433	---	---	---	---	0	0
PADI3	51702	broad.mit.edu	37	1	17609504	17609504	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:17609504G>T	ENST00000375460.3	+	16	1965	c.1925G>T	c.(1924-1926)gGg>gTg	p.G642V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	642					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATGCTGCATGGGGAGGTGCAC	0.597													4	138	---	---	---	---	0	0
CAPZB	832	broad.mit.edu	37	1	19712116	19712116	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:19712116G>T	ENST00000264203.3	-	4	669	c.176C>A	c.(175-177)cCc>cAc	p.P59H	CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000375144.1_Missense_Mutation_p.P21H|CAPZB_ENST00000264202.6_Missense_Mutation_p.P33H|CAPZB_ENST00000401084.2_Missense_Mutation_p.P33H|CAPZB_ENST00000375142.1_Missense_Mutation_p.P33H|CAPZB_ENST00000433834.1_Missense_Mutation_p.P62H	NM_001206541.2	NP_001193470.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	33					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		ACATAGACTGGGGACCTGGCA	0.473													4	87	---	---	---	---	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20304968	20304968	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:20304968C>G	ENST00000375111.3	-	4	361	c.90G>C	c.(88-90)aaG>aaC	p.K30N	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.K30N|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	30					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.K30N(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCGTCAACTTGATCATTC	0.557													12	61	---	---	---	---	0	0
FGR	2268	broad.mit.edu	37	1	27942065	27942065	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:27942065G>T	ENST00000374005.3	-	9	1186	c.898C>A	c.(898-900)Ccg>Acg	p.P300T	FGR_ENST00000545953.1_Missense_Mutation_p.P234T|FGR_ENST00000374004.1_Missense_Mutation_p.P300T|FGR_ENST00000399173.1_Missense_Mutation_p.P300T	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	300	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGGCCTTCGGGGACATGGTG	0.647													5	95	---	---	---	---	0	0
TRIM62	55223	broad.mit.edu	37	1	33612958	33612958	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:33612958C>A	ENST00000291416.5	-	5	1481	c.1248G>T	c.(1246-1248)gtG>gtT	p.V416V	TRIM62_ENST00000543586.1_Silent_p.V295V	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	416	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGAAGACACCCACCTTGTCAA	0.572													5	118	---	---	---	---	0	0
SPATA6	54558	broad.mit.edu	37	1	48865161	48865161	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:48865161T>C	ENST00000371847.3	-	7	806	c.642A>G	c.(640-642)aaA>aaG	p.K214K	SPATA6_ENST00000371843.3_Silent_p.K214K|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Silent_p.K142K	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	214					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.K214K(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGAGTGTGATTTTGAAGAAA	0.413													9	505	---	---	---	---	0	0
GTF2B	2959	broad.mit.edu	37	1	89325644	89325644	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:89325644C>A	ENST00000370500.5	-	5	574	c.456G>T	c.(454-456)aaG>aaT	p.K152N	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	152					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TAGCTCTTCCCTTCAGGCTCT	0.358													6	367	---	---	---	---	0	0
ABCA4	24	broad.mit.edu	37	1	94508397	94508397	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:94508397A>G	ENST00000370225.3	-	22	3334	c.3248T>C	c.(3247-3249)gTg>gCg	p.V1083A		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1083	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V1083A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCCAGAATCACCACCTTGGC	0.567													9	144	---	---	---	---	0	0
COL11A1	1301	broad.mit.edu	37	1	103385906	103385906	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:103385906G>T	ENST00000358392.2	-	49	4076	c.3759C>A	c.(3757-3759)ccC>ccA	p.P1253P	COL11A1_ENST00000512756.1_Silent_p.P1125P|COL11A1_ENST00000370096.3_Silent_p.P1241P|COL11A1_ENST00000353414.4_Silent_p.P1202P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1241	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGACCCTGGGGGTCCTTGTG	0.353													7	405	---	---	---	---	0	0
HIPK1	204851	broad.mit.edu	37	1	114510461	114510461	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:114510461T>C	ENST00000369558.1	+	12	2687	c.2455T>C	c.(2455-2457)Ttg>Ctg	p.L819L	HIPK1_ENST00000406344.1_Silent_p.L425L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000369554.2_Silent_p.L774L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000369559.4_Silent_p.L819L|HIPK1_ENST00000369553.1_Silent_p.L425L|HIPK1_ENST00000340480.4_Silent_p.L445L|HIPK1_ENST00000426820.2_Silent_p.L819L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.L819L(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGTGACATTGGCCACTGC	0.488													7	210	---	---	---	---	0	0
THBS3	7059	broad.mit.edu	37	1	155174919	155174919	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:155174919G>T	ENST00000368378.3	-	3	495	c.475C>A	c.(475-477)Ccc>Acc	p.P159T	THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	159	TSP N-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGAGGAATGGGGGCCAGTGCT	0.602													4	81	---	---	---	---	0	0
FCRL4	83417	broad.mit.edu	37	1	157558993	157558993	+	Splice_Site	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:157558993C>G	ENST00000271532.1	-	3	443		c.e3+1		FCRL4_ENST00000448509.2_Splice_Site	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4							integral to membrane|plasma membrane	receptor activity	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCTTTCTCACCTGAAGAAAA	0.493													18	146	---	---	---	---	0	0
NIT1	4817	broad.mit.edu	37	1	161088966	161088966	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:161088966C>A	ENST00000368008.1	+	3	200	c.141C>A	c.(139-141)ccC>ccA	p.P47P	NIT1_ENST00000368009.2_Silent_p.P47P|NIT1_ENST00000392190.5_Silent_p.P11P|NIT1_ENST00000368007.4_Silent_p.P32P|NIT1_ENST00000496861.1_3'UTR	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	47	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGAACTGCCCCTGGTGGCTG	0.532													5	185	---	---	---	---	0	0
KIF21B	23046	broad.mit.edu	37	1	200978472	200978472	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:200978472C>A	ENST00000332129.2	-	2	502	c.186G>T	c.(184-186)caG>caT	p.Q62H	KIF21B_ENST00000422435.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000360529.5_Missense_Mutation_p.Q62H	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	62	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q62H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGGAATAGATCTGTTCTTGCC	0.572													11	99	---	---	---	---	0	0
ATP2B4	493	broad.mit.edu	37	1	203693090	203693090	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:203693090G>T	ENST00000357681.5	+	19	4229	c.3106G>T	c.(3106-3108)Ggg>Tgg	p.G1036W	ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G1036W|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G1024W|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G1036W	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1036					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTCTTCATTGGGATTGGAGA	0.522													4	112	---	---	---	---	0	0
NVL	4931	broad.mit.edu	37	1	224495815	224495815	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:224495815G>T	ENST00000281701.6	-	6	752	c.493C>A	c.(493-495)Cct>Act	p.P165T	NVL_ENST00000391875.2_Missense_Mutation_p.P59T|NVL_ENST00000482491.1_Intron|NVL_ENST00000340871.4_Intron|NVL_ENST00000469075.1_Intron|NVL_ENST00000361463.3_Missense_Mutation_p.P59T	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	165						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TCTTTGGCAGGGGTCTTCAAG	0.418													6	323	---	---	---	---	0	0
DDX1	1653	broad.mit.edu	37	2	15753347	15753347	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:15753347G>T	ENST00000381341.2	+	15	1345		c.e15-1		DDX1_ENST00000233084.3_Splice_Site			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1						DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		ATTTATTTCAGGGAGCTTCTG	0.313													4	101	---	---	---	---	0	0
PRKD3	23683	broad.mit.edu	37	2	37543436	37543436	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:37543436G>T	ENST00000379066.1	-	2	994	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	PRKD3_ENST00000234179.2_Missense_Mutation_p.Q78K			O94806	KPCD3_HUMAN	protein kinase D3	78					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GACAGTTCCTGGGCTTCAATG	0.423													6	321	---	---	---	---	0	0
MTA3	57504	broad.mit.edu	37	2	42871298	42871298	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:42871298C>A	ENST00000405592.1	+	7	915	c.245C>A	c.(244-246)cCc>cAc	p.P82H	MTA3_ENST00000407270.3_Missense_Mutation_p.P138H|MTA3_ENST00000405094.1_Missense_Mutation_p.P138H|MTA3_ENST00000406911.1_Missense_Mutation_p.P138H|MTA3_ENST00000406652.1_Missense_Mutation_p.P82H	NM_001282755.1	NP_001269684.1	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	138	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						GTCTATGACCCCTCATTGAAA	0.348													4	116	---	---	---	---	0	0
MSH6	2956	broad.mit.edu	37	2	48027255	48027255	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:48027255C>A	ENST00000234420.5	+	4	2285	c.2133C>A	c.(2131-2133)ccC>ccA	p.P711P	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.P581P|MSH6_ENST00000538136.1_Silent_p.P409P	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATATATTCCCTTGGATTCTG	0.408			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	364	---	---	---	---	0	0
CCT4	10575	broad.mit.edu	37	2	62104186	62104186	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:62104186C>A	ENST00000394440.3	-	7	942	c.646G>T	c.(646-648)Ggg>Tgg	p.G216W	CCT4_ENST00000544079.1_Splice_Site_p.G186W|CCT4_ENST00000538252.1_Splice_Site_p.G160W|CCT4_ENST00000544185.1_Splice_Site_p.G66W|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	216					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TCAATTGTCCCACTAAGGATA	0.393													5	197	---	---	---	---	0	0
BOLA3	388962	broad.mit.edu	37	2	74362730	74362730	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:74362730G>T	ENST00000327428.5	-	4	433	c.314C>A	c.(313-315)cCc>cAc	p.P105H	BOLA3_ENST00000295326.4_Silent_p.P75P	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	105						extracellular region				large_intestine(1)|lung(1)	2						TCAGCGTTTGGGGACAGAGGT	0.418													7	256	---	---	---	---	0	0
PKP4	8502	broad.mit.edu	37	2	159499082	159499082	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:159499082C>A	ENST00000389757.3	+	11	1905	c.1780C>A	c.(1780-1782)Ctt>Att	p.L594I	PKP4_ENST00000389759.3_Missense_Mutation_p.L594I	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	594					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTGTGGTGCCCTTCGAAACCT	0.413										HNSCC(62;0.18)			5	222	---	---	---	---	0	0
XIRP2	129446	broad.mit.edu	37	2	168099282	168099282	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:168099282T>G	ENST00000409195.1	+	9	1469	c.1380T>G	c.(1378-1380)ctT>ctG	p.L460L	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L238L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L460L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	285					actin cytoskeleton organization	cell junction	actin binding	p.L460L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGACGTACTTCAAACTTCAG	0.448													24	188	---	---	---	---	0	0
PPIG	9360	broad.mit.edu	37	2	170493832	170493832	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:170493832C>A	ENST00000260970.3	+	14	2284	c.2064C>A	c.(2062-2064)ccC>ccA	p.P688P	PPIG_ENST00000448752.2_Silent_p.P688P|PPIG_ENST00000409714.3_Silent_p.P673P	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	688					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATCAAAGTCCCTTCTCAAAAA	0.348													4	146	---	---	---	---	0	0
CRYGB	1419	broad.mit.edu	37	2	209007467	209007467	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:209007467C>A	ENST00000260988.4	-	3	470	c.423G>T	c.(421-423)agG>agT	p.R141S		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	141	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		ACTGCCTCCCCCTGTAGTTGG	0.532													6	312	---	---	---	---	0	0
TRIP12	9320	broad.mit.edu	37	2	230657838	230657838	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:230657838T>C	ENST00000283943.5	-	26	3945	c.3767A>G	c.(3766-3768)cAg>cGg	p.Q1256R	TRIP12_ENST00000389045.3_Missense_Mutation_p.Q986R|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1256					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.Q1256R(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTAAAGCCTGTGATCCTCT	0.328													16	119	---	---	---	---	0	0
SP110	3431	broad.mit.edu	37	2	231050859	231050859	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:231050859C>A	ENST00000258381.6	-	11	1207	c.1130G>T	c.(1129-1131)gGg>gTg	p.G377V	SP110_ENST00000392048.3_Splice_Site_p.G375V|SP110_ENST00000358662.4_Splice_Site_p.G377V|SP110_ENST00000258382.5_Splice_Site_p.G377V|SP110_ENST00000338556.3_Splice_Site_p.G79V|SP110_ENST00000540870.1_Splice_Site_p.G383V	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	377					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGAGGCTGCCCCTGGACCAAA	0.483													4	127	---	---	---	---	0	0
NEU4	129807	broad.mit.edu	37	2	242755700	242755700	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:242755700C>A	ENST00000391969.2	+	3	730	c.19C>A	c.(19-21)Cct>Act	p.P7T	NEU4_ENST00000325935.6_Missense_Mutation_p.P20T|NEU4_ENST00000404257.1_Missense_Mutation_p.P19T|NEU4_ENST00000405370.1_Missense_Mutation_p.P7T|NEU4_ENST00000407683.1_Missense_Mutation_p.P7T	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	7						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCCTCGTACCCCTTCACGGAC	0.687													4	64	---	---	---	---	0	0
OXSM	54995	broad.mit.edu	37	3	25833004	25833004	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:25833004T>C	ENST00000280701.3	+	2	592	c.493T>C	c.(493-495)Ttg>Ctg	p.L165L	OXSM_ENST00000420173.2_Silent_p.L165L|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	165					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.L165L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGAAACTGCTTTGAATTTTCA	0.423													29	268	---	---	---	---	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37125219	37125219	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:37125219A>G	ENST00000421307.1	-	20	1608	c.1186T>C	c.(1186-1188)Ttg>Ctg	p.L396L	LRRFIP2_ENST00000336686.4_Silent_p.L396L|LRRFIP2_ENST00000440230.1_Silent_p.L164L|LRRFIP2_ENST00000421276.2_Silent_p.L164L|LRRFIP2_ENST00000396428.2_Silent_p.L212L|LRRFIP2_ENST00000354379.4_Silent_p.L140L	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	396					Wnt receptor signaling pathway		LRR domain binding	p.L396L(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGGTAGATCAAATTGTTCTTC	0.353													58	207	---	---	---	---	0	0
GRM2	2912	broad.mit.edu	37	3	51750047	51750047	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:51750047C>A	ENST00000395052.3	+	4	2492	c.2258C>A	c.(2257-2259)cCc>cAc	p.P753H	GRM2_ENST00000442933.2_Missense_Mutation_p.P475H|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	753					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CGCAAGTGCCCCGAAAACTTC	0.547													4	118	---	---	---	---	0	0
CRYBG3	131544	broad.mit.edu	37	3	97652652	97652652	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:97652652C>A	ENST00000182096.4	+	15	2576	c.2512C>A	c.(2512-2514)Cag>Aag	p.Q838K	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Missense_Mutation_p.Q45K	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CTTCTACACCCAGTCTGTGTG	0.453													5	182	---	---	---	---	0	0
SLC12A8	84561	broad.mit.edu	37	3	124810946	124810946	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:124810946C>A	ENST00000423114.2	-	11	1888	c.1889G>T	c.(1888-1890)gGg>gTg	p.G630V	SLC12A8_ENST00000469902.1_Splice_Site_p.G601V|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Splice_Site_p.G402V|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000393469.4_Splice_Site_p.G601V			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	601					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GTTACTCACCCCCAACAGGGA	0.493													5	117	---	---	---	---	0	0
IFT80	57560	broad.mit.edu	37	3	160037613	160037613	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:160037613C>T	ENST00000326448.7	-	9	1324	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M|IFT80_ENST00000496589.1_Missense_Mutation_p.V161M|IFT80_ENST00000483465.1_Missense_Mutation_p.V161M	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	298						cilium axoneme|microtubule basal body		p.V298M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTCCACCACATGTGCAAAA	0.398													8	219	---	---	---	---	0	0
SEL1L3	23231	broad.mit.edu	37	4	25849008	25849008	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:25849008G>T	ENST00000399878.3	-	2	763	c.641C>A	c.(640-642)cCt>cAt	p.P214H	SEL1L3_ENST00000502949.1_Missense_Mutation_p.P61H|SEL1L3_ENST00000264868.5_Missense_Mutation_p.P179H|SEL1L3_ENST00000513364.1_Intron	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	214						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATCTTTGAAAGGGCGTTCAAA	0.463													5	139	---	---	---	---	0	0
ARAP2	116984	broad.mit.edu	37	4	36130284	36130284	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:36130284T>G	ENST00000303965.4	-	21	4000	c.3511A>C	c.(3511-3513)Aga>Cga	p.R1171R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1171	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.R1171R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAAAGCTTCTTGCATCCTTT	0.358													11	175	---	---	---	---	0	0
MRPL1	65008	broad.mit.edu	37	4	78784032	78784032	+	Splice_Site	SNP	A	A	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:78784032A>C	ENST00000315567.8	+	1	359	c.30A>C	c.(28-30)agA>agC	p.R10S		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	10							RNA binding	p.R10S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GCATGGGTAGAGGTAAGGCGA	0.537													6	169	---	---	---	---	0	0
ANK2	287	broad.mit.edu	37	4	114279714	114279714	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:114279714C>A	ENST00000357077.4	+	38	9993	c.9940C>A	c.(9940-9942)Cca>Aca	p.P3314T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3281T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3281					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACTTCCACCCCAGCACCTCC	0.428													8	305	---	---	---	---	0	0
PCDH10	57575	broad.mit.edu	37	4	134073378	134073378	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:134073378G>T	ENST00000264360.5	+	1	2909	c.2083G>T	c.(2083-2085)Ggg>Tgg	p.G695W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		cggaggcggaggGTCAGGAGA	0.697													4	79	---	---	---	---	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160275188	160275188	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:160275188G>T	ENST00000264431.4	+	22	4577	c.4158G>T	c.(4156-4158)aaG>aaT	p.K1386N		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1386					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTACTACAAAGGGGCTCATTG	0.423													4	61	---	---	---	---	0	0
KLHL2	11275	broad.mit.edu	37	4	166243184	166243184	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:166243184G>T	ENST00000226725.6	+	15	2013	c.1754G>T	c.(1753-1755)gGg>gTg	p.G585V	KLHL2_ENST00000538127.1_Splice_Site_p.G497V|KLHL2_ENST00000421009.2_Splice_Site_p.G488V|KLHL2_ENST00000514860.1_Splice_Site_p.G589V|KLHL2_ENST00000506761.1_Splice_Site_p.G419V|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	585					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTTTGCTCAGGGGTCACAGTT	0.378													5	301	---	---	---	---	0	0
ING2	3622	broad.mit.edu	37	4	184431718	184431718	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:184431718C>A	ENST00000302327.3	+	2	658	c.456C>A	c.(454-456)ccC>ccA	p.P152P	ING2_ENST00000434682.2_Silent_p.P112P	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	152					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAAGAAGACCCCGCAGGCAGC	0.458													4	94	---	---	---	---	0	0
KLKB1	3818	broad.mit.edu	37	4	187175748	187175748	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:187175748C>A	ENST00000264690.6	+	12	1507	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	KLKB1_ENST00000513864.1_Silent_p.P440P	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	440	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTAGGCTTCCCCTGCAGGATG	0.373													6	291	---	---	---	---	0	0
BRD9	65980	broad.mit.edu	37	5	884166	884166	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:884166C>A	ENST00000323510.4	-	5	564	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	BRD9_ENST00000435709.2_Missense_Mutation_p.G169W|BRD9_ENST00000467963.1_Missense_Mutation_p.G285W|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000483173.1_Missense_Mutation_p.G232W|BRD9_ENST00000388890.4_Missense_Mutation_p.G169W			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	285	Bromo.						nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CAGGCATTCCCTTCAGGCTCA	0.627													4	111	---	---	---	---	0	0
FAM105B	90268	broad.mit.edu	37	5	14687628	14687628	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:14687628A>T	ENST00000284274.4	+	5	546		c.e5-1			NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B											breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TCGATGTTGTAGTTACCAGAA	0.348													5	192	---	---	---	---	0	0
EGFLAM	133584	broad.mit.edu	37	5	38412623	38412623	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:38412623G>T	ENST00000322350.5	+	11	1713	c.1367G>T	c.(1366-1368)gGg>gTg	p.G456V	EGFLAM_ENST00000336740.6_Missense_Mutation_p.G222V|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G456V	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	456	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTGGAACTGGGGTTGCCATC	0.478													4	124	---	---	---	---	0	0
VCAN	1462	broad.mit.edu	37	5	82817528	82817528	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:82817528G>T	ENST00000265077.3	+	7	3968	c.3403G>T	c.(3403-3405)Ggg>Tgg	p.G1135W	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G1087W|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G1135W	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1135	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTTAAGTCCAGGGCCTGAACA	0.408													5	173	---	---	---	---	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95067626	95067626	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:95067626G>T	ENST00000379982.3	+	2	574	c.66G>T	c.(64-66)tcG>tcT	p.S22S	RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Silent_p.S22S	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	22	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ACCGGCCGTCGGGGCTTATCC	0.657													3	62	---	---	---	---	0	0
APC	324	broad.mit.edu	37	5	112154851	112154851	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:112154851G>T	ENST00000457016.1	+	10	1502	c.1122G>T	c.(1120-1122)cgG>cgT	p.R374R	APC_ENST00000508376.2_Silent_p.R374R|APC_ENST00000257430.4_Silent_p.R374R			P25054	APC_HUMAN	adenomatous polyposis coli	374	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAATTCCCGGGGCAGTAAAG	0.512		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			4	101	---	---	---	---	0	0
HARS	3035	broad.mit.edu	37	5	140056698	140056698	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:140056698C>A	ENST00000504366.1	-	8	2439	c.620G>T	c.(619-621)gGg>gTg	p.G207V	HARS_ENST00000438307.2_Missense_Mutation_p.G236V|HARS_ENST00000431330.2_Missense_Mutation_p.G162V|HARS_ENST00000457527.2_Missense_Mutation_p.G256V|HARS_ENST00000504156.1_Missense_Mutation_p.G276V|HARS_ENST00000307633.3_Missense_Mutation_p.G216V|HARS_ENST00000448240.1_Missense_Mutation_p.G81V|HARS_ENST00000415192.2_Missense_Mutation_p.G202V			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	276					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGGGATACCCCACCTGGGGA	0.532													7	465	---	---	---	---	0	0
ADRB2	154	broad.mit.edu	37	5	148207351	148207351	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:148207351T>G	ENST00000305988.4	+	1	1196	c.957T>G	c.(955-957)tcT>tcG	p.S319S		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	319					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	p.S319S(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ATGTCAATTCTGGTTTCAATC	0.478													15	142	---	---	---	---	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148691735	148691735	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:148691735C>A	ENST00000296721.4	+	9	1086	c.988C>A	c.(988-990)Cca>Aca	p.P330T	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P330T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	330							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCAGATCCCCAGTCCTCCT	0.597													6	259	---	---	---	---	0	0
LARP1	23367	broad.mit.edu	37	5	154181820	154181820	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:154181820C>A	ENST00000336314.4	+	11	1763	c.1739C>A	c.(1738-1740)cCa>cAa	p.P580Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGCCGGCACCCAGGGGGGGAC	0.547													6	196	---	---	---	---	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479438	156479438	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:156479438G>A	ENST00000339252.3	-	3	1139	c.607C>T	c.(607-609)Cca>Tca	p.P203S	HAVCR1_ENST00000544197.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	198	Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.P203S(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGTCACTGGAACACTTGTT	0.468													67	448	---	---	---	---	0	0
LCP2	3937	broad.mit.edu	37	5	169677742	169677742	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:169677742C>A	ENST00000046794.5	-	20	2086	c.1471G>T	c.(1471-1473)Ggg>Tgg	p.G491W	C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Missense_Mutation_p.G286W	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	491	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ACCTCTTTCCCTCGGAGTCCA	0.413													4	159	---	---	---	---	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171821588	171821588	+	Silent	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:171821588T>G	ENST00000311601.5	-	4	458	c.288A>C	c.(286-288)atA>atC	p.I96I	SH3PXD2B_ENST00000519643.1_Silent_p.I96I	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	96	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	p.I96I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATCAATTGGTATCAGGCGTT	0.468													9	67	---	---	---	---	0	0
TRIM38	10475	broad.mit.edu	37	6	25983518	25983518	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:25983518C>A	ENST00000357085.3	+	8	1477	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	TRIM38_ENST00000349458.3_Missense_Mutation_p.P334H	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	334	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						ACTGCCTTCCCCTGTGTCTTG	0.478													6	200	---	---	---	---	0	0
MDC1	9656	broad.mit.edu	37	6	30670419	30670419	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:30670419G>T	ENST00000376406.3	-	14	6660	c.6013C>A	c.(6013-6015)Cct>Act	p.P2005T	MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2005	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGACTCCAGGGGTCACATAG	0.493								Other conserved DNA damage response genes					6	276	---	---	---	---	0	0
MSH5-SAPCD1	0	broad.mit.edu	37	6	31727926	31727926	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:31727926G>T	ENST00000493662.2	+	19	1852	c.1796G>T	c.(1795-1797)gGg>gTg	p.G599V	MSH5_ENST00000375750.3_Missense_Mutation_p.G582V|MSH5_ENST00000375742.3_Missense_Mutation_p.G599V|MSH5_ENST00000375740.3_Missense_Mutation_p.G599V|MSH5_ENST00000395853.1_Missense_Mutation_p.G256V|MSH5_ENST00000375703.3_Missense_Mutation_p.G582V|MSH5_ENST00000431848.2_Missense_Mutation_p.G281V|MSH5_ENST00000534153.4_Missense_Mutation_p.G599V|MSH5_ENST00000375755.3_Missense_Mutation_p.G582V																							GAATGTGGTGGGGACAAAGGG	0.567													5	259	---	---	---	---	0	0
WDR46	9277	broad.mit.edu	37	6	33256001	33256001	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:33256001C>A	ENST00000374617.4	-	5	841	c.485G>T	c.(484-486)gGg>gTg	p.G162V	WDR46_ENST00000477718.1_5'UTR	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	162										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CCCATCCTCCCCTTCCAGAAA	0.488													8	614	---	---	---	---	0	0
FNDC1	84624	broad.mit.edu	37	6	159635999	159635999	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:159635999C>A	ENST00000297267.9	+	5	683	c.483C>A	c.(481-483)ccC>ccA	p.P161P	FNDC1_ENST00000340366.6_Silent_p.P161P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	161	Fibronectin type-III 2.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCAACAAGCCCTTGCGTGTGC	0.537													4	63	---	---	---	---	0	0
SFT2D1	113402	broad.mit.edu	37	6	166733745	166733745	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:166733745C>A	ENST00000361731.3	-	8	550		c.e8-1		SFT2D1_ENST00000487841.1_Splice_Site	NM_145169.1	NP_660152.1	Q8WV19	SFT2A_HUMAN	SFT2 domain containing 1						protein transport|vesicle-mediated transport	integral to membrane				NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		AACTGCATCCCTGGTGGAAAA	0.353													4	109	---	---	---	---	0	0
CALCR	799	broad.mit.edu	37	7	93065363	93065363	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:93065363G>T	ENST00000359558.2	-	14	1451	c.1152C>A	c.(1150-1152)ccC>ccA	p.P384P	CALCR_ENST00000360249.4_Silent_p.P366P|CALCR_ENST00000421592.1_Silent_p.P366P|CALCR_ENST00000426151.1_Silent_p.P350P|CALCR_ENST00000394441.1_Silent_p.P350P	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	366					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTCCCAGCAGGGGCACAAGGA	0.498													4	103	---	---	---	---	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210593	100210593	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:100210593C>A	ENST00000393950.2	+	1	461	c.179C>A	c.(178-180)cCc>cAc	p.P60H	MOSPD3_ENST00000424091.2_Missense_Mutation_p.P60H|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P60H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P60H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	60	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCTATAACCCCACAGGAACT	0.647													6	262	---	---	---	---	0	0
C7orf60	154743	broad.mit.edu	37	7	112555390	112555390	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:112555390C>A	ENST00000297145.4	-	2	438	c.273G>T	c.(271-273)gaG>gaT	p.E91D	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	91										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GACCTTCGCCCTCACAAGTTT	0.348													5	232	---	---	---	---	0	0
LRGUK	136332	broad.mit.edu	37	7	133859312	133859312	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:133859312C>T	ENST00000285928.2	+	8	1013	c.944C>T	c.(943-945)gCt>gTt	p.A315V		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	315							ATP binding|kinase activity	p.A315V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAACAGATTGCTGAGCTGAGA	0.313													6	185	---	---	---	---	0	0
RCL1	10171	broad.mit.edu	37	9	4841318	4841318	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:4841318A>G	ENST00000381750.4	+	6	894	c.671A>G	c.(670-672)tAt>tGt	p.Y224C	RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C|RCL1_ENST00000381728.1_Missense_Mutation_p.Y38C|RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	224					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CCTGATATCTATATTTACACA	0.438													4	287	---	---	---	---	0	0
KDM4C	23081	broad.mit.edu	37	9	7103863	7103863	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:7103863C>A	ENST00000381309.3	+	18	3168	c.2603C>A	c.(2602-2604)cCc>cAc	p.P868H	KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000428870.2_Missense_Mutation_p.P555H|KDM4C_ENST00000442236.2_Missense_Mutation_p.P613H|KDM4C_ENST00000381306.3_Missense_Mutation_p.P868H	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	868					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AAGGTCAACCCCAACGTGGTA	0.483													4	121	---	---	---	---	0	0
PTPRD	5789	broad.mit.edu	37	9	8460552	8460552	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:8460552G>T	ENST00000381196.4	-	30	4277	c.3734C>A	c.(3733-3735)cCt>cAt	p.P1245H	PTPRD_ENST00000397606.3_Missense_Mutation_p.P824H|PTPRD_ENST00000537002.1_Missense_Mutation_p.P831H|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1245H|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1245H|PTPRD_ENST00000486161.1_Missense_Mutation_p.P834H|PTPRD_ENST00000397617.3_Missense_Mutation_p.P824H|PTPRD_ENST00000397611.3_Missense_Mutation_p.P831H|PTPRD_ENST00000355233.5_Missense_Mutation_p.P834H|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1223H|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1232H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1245					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTCGGAGTAAGGGCTGGTTGC	0.433										TSP Lung(15;0.13)			4	143	---	---	---	---	0	0
NDUFB6	4712	broad.mit.edu	37	9	32573053	32573053	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:32573053C>A	ENST00000379847.3	-	1	107	c.6G>T	c.(4-6)acG>acT	p.T2T	NDUFB6_ENST00000350021.2_Silent_p.T2T	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	2					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	GAGTGTACCCCGTCATGTCGC	0.627											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	40	---	---	---	---	0	0
GBA2	57704	broad.mit.edu	37	9	35748483	35748483	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:35748483C>A	ENST00000378094.4	-	1	732	c.219G>T	c.(217-219)gaG>gaT	p.E73D	GBA2_ENST00000378103.3_Missense_Mutation_p.E73D|GBA2_ENST00000545786.1_Missense_Mutation_p.E73D			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	73					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGCTTTACCCTCATAGGAAA	0.532													6	385	---	---	---	---	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501022	90501022	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:90501022C>A	ENST00000325643.5	+	4	1686	c.1620C>A	c.(1618-1620)ccC>ccA	p.P540P		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CTTCTCCACCCCAGATTAGGG	0.607													6	260	---	---	---	---	0	0
OR2K2	26248	broad.mit.edu	37	9	114089857	114089857	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:114089857G>T	ENST00000374428.1	-	1	943	c.944C>A	c.(943-945)cCc>cAc	p.P315H	OR2K2_ENST00000302681.1_Missense_Mutation_p.P286H			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTAAATTATGGGGTTCAACAT	0.388													5	224	---	---	---	---	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136313725	136313725	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136313725A>C	ENST00000371929.3	+	22	3181	c.2737A>C	c.(2737-2739)Atg>Ctg	p.M913L	ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	913	TSP type-1 5.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.M913L(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CGCAGGTCTGATGGAGCTGCG	0.632													8	345	---	---	---	---	0	0
UAP1L1	91373	broad.mit.edu	37	9	139975242	139975242	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:139975242T>A	ENST00000409858.3	+	7	1312	c.1280T>A	c.(1279-1281)cTg>cAg	p.L427Q	UAP1L1_ENST00000360271.3_Missense_Mutation_p.L304Q	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	427							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CGCCAGGCCCTGCTCACCCAG	0.677													4	92	---	---	---	---	0	0
FAM208B	54906	broad.mit.edu	37	10	5772512	5772512	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:5772512C>A	ENST00000328090.5	+	11	1175	c.550C>A	c.(550-552)Ctt>Att	p.L184I	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	184																	TTTATCTACCCTTAATTGTGC	0.353													6	204	---	---	---	---	0	0
FAM208B	54906	broad.mit.edu	37	10	5782210	5782210	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:5782210G>T	ENST00000328090.5	+	13	2702	c.2077G>T	c.(2077-2079)Ggg>Tgg	p.G693W	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	693																	AACCCCAGTGGGGAAAGTCAT	0.537													6	280	---	---	---	---	0	0
SGPL1	8879	broad.mit.edu	37	10	72629558	72629558	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:72629558C>A	ENST00000373202.3	+	9	914	c.714C>A	c.(712-714)ccC>ccA	p.P238P		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	238					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	GTGTGGCTCCCCAAAGTGCCC	0.448													4	132	---	---	---	---	0	0
FAM196A	642938	broad.mit.edu	37	10	128973760	128973760	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr10:128973760G>T	ENST00000522781.1	-	4	1455	c.900C>A	c.(898-900)ccC>ccA	p.P300P	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P300P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	300										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGTTTCCGAGGGCGCCTGGA	0.667													4	135	---	---	---	---	0	0
RAG1	5896	broad.mit.edu	37	11	36596905	36596905	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:36596905C>A	ENST00000299440.5	+	2	2163	c.2051C>A	c.(2050-2052)gCc>gAc	p.A684D		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	684					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAGAGGGAGGCCATGAAGAGC	0.512									Familial Hemophagocytic Lymphohistiocytosis				4	85	---	---	---	---	0	0
MAP6	4135	broad.mit.edu	37	11	75298701	75298701	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:75298701C>A	ENST00000304771.3	-	4	2595	c.1845G>T	c.(1843-1845)aaG>aaT	p.K615N	MAP6_ENST00000526740.1_Missense_Mutation_p.K286N|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	615	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GACCTTCACCCTTGACAGGTG	0.542													7	377	---	---	---	---	0	0
NPAT	4863	broad.mit.edu	37	11	108047756	108047756	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:108047756G>T	ENST00000278612.8	-	11	1073	c.968C>A	c.(967-969)cCa>cAa	p.P323Q	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	323	Mediates transcriptional activation.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CTGAAATGCTGGGTCTGATTC	0.388													4	154	---	---	---	---	0	0
GRIK4	2900	broad.mit.edu	37	11	120833172	120833172	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:120833172G>A	ENST00000527524.2	+	18	2335	c.2048G>A	c.(2047-2049)cGc>cAc	p.R683H	GRIK4_ENST00000438375.2_Missense_Mutation_p.R683H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	683					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R683H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CAGAATTCCCGCTACCAGACC	0.483													5	42	---	---	---	---	0	0
HSPA8	3312	broad.mit.edu	37	11	122929117	122929117	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:122929117C>A	ENST00000534624.1	-	8	1874	c.1598G>T	c.(1597-1599)aGg>aTg	p.R533M	HSPA8_ENST00000526110.1_Missense_Mutation_p.R514M|HSPA8_ENST00000532636.1_Missense_Mutation_p.R533M|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.R533M|HSPA8_ENST00000533540.1_Missense_Mutation_p.R387M|HSPA8_ENST00000534319.1_Missense_Mutation_p.R297M	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	533					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACCTTGTCCCTCTGCTTCTC	0.423													5	323	---	---	---	---	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253748	134253748	+	Silent	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:134253748G>T	ENST00000524765.1	-	3	4991	c.447C>A	c.(445-447)ccC>ccA	p.P149P	B3GAT1_ENST00000312527.4_Silent_p.P149P|B3GAT1_ENST00000392580.1_Silent_p.P149P|B3GAT1_ENST00000537389.1_Silent_p.P162P			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	149					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TGTAGTTGCGGGGCGTCTCCA	0.731													3	16	---	---	---	---	0	0
MYL6	4637	broad.mit.edu	37	12	56554423	56554423	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:56554423T>A	ENST00000550697.1	+	6	682	c.441T>A	c.(439-441)caT>caA	p.H147Q	MYL6_ENST00000548400.1_Missense_Mutation_p.H111Q|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	147	EF-hand 3.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	p.H147Q(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTGTGAGGCATATCCTGTCGG	0.547													14	351	---	---	---	---	0	0
MYL6	4637	broad.mit.edu	37	12	56554425	56554425	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:56554425T>G	ENST00000550697.1	+	6	684	c.443T>G	c.(442-444)aTc>aGc	p.I148S	MYL6_ENST00000548400.1_Missense_Mutation_p.I112S|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	148	EF-hand 3.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	p.I148S(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GTGAGGCATATCCTGTCGGGG	0.547													14	342	---	---	---	---	0	0
DPY19L2	283417	broad.mit.edu	37	12	63976243	63976243	+	Silent	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:63976243T>C	ENST00000324472.4	-	18	1851	c.1668A>G	c.(1666-1668)ctA>ctG	p.L556L	DPY19L2_ENST00000413230.2_Silent_p.L3L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	556					multicellular organismal development|spermatid development	integral to membrane		p.L556L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAACATCTTTAGCCTCATAA	0.343													23	82	---	---	---	---	0	0
UBC	7316	broad.mit.edu	37	12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522													7	475	---	---	---	---	0	0
MIPEP	4285	broad.mit.edu	37	13	24455845	24455845	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:24455845C>A	ENST00000382172.3	-	3	543	c.445G>T	c.(445-447)Gta>Tta	p.V149L	MIPEP_ENST00000469167.1_5'UTR	NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	149					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.V149L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TACTTCTCTACCATGGTGCCA	0.502													11	115	---	---	---	---	0	0
SPG20	23111	broad.mit.edu	37	13	36886567	36886567	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:36886567G>A	ENST00000451493.1	-	7	1748	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S	SPG20_ENST00000355182.4_Missense_Mutation_p.P511S|SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_Missense_Mutation_p.P511S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	511					cell death	cytoplasm	ubiquitin protein ligase binding	p.P511S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGACATGTGGAGCTAGTTCT	0.368													42	283	---	---	---	---	0	0
FAM155A	728215	broad.mit.edu	37	13	108518237	108518237	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:108518237C>A	ENST00000375915.2	-	1	846	c.708G>T	c.(706-708)tcG>tcT	p.S236S		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	236						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGACAACCCCGAGAACAACT	0.537													5	240	---	---	---	---	0	0
TEP1	7011	broad.mit.edu	37	14	20846388	20846388	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:20846388C>A	ENST00000262715.5	-	39	5556	c.5516G>T	c.(5515-5517)gGg>gTg	p.G1839V	TEP1_ENST00000556935.1_Missense_Mutation_p.G1731V|TEP1_ENST00000545983.1_Missense_Mutation_p.G177V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1839					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCGGGTGCCCCCAGGTCCTA	0.592													5	95	---	---	---	---	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59942588	59942588	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:59942588C>A	ENST00000247194.4	-	4	1051	c.938G>T	c.(937-939)aGg>aTg	p.R313M	L3HYPDH_ENST00000487285.1_Splice_Site_p.R142M	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		GCCACTTACCCTCACAGCTTT	0.453													5	274	---	---	---	---	0	0
FUT8	2530	broad.mit.edu	37	14	66208945	66208945	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:66208945C>A	ENST00000360689.5	+	11	3272	c.1545C>A	c.(1543-1545)ccC>ccA	p.P515P	FUT8_ENST00000394585.1_Silent_p.P515P|FUT8_ENST00000394586.2_Silent_p.P515P|FUT8_ENST00000358307.2_Silent_p.P386P|FUT8_ENST00000417683.1_Silent_p.P109P|FUT8_ENST00000557164.1_Silent_p.P352P	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	515	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CTCACCAACCCCGAACTGCAG	0.438													6	271	---	---	---	---	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442220	103442220	+	Splice_Site	SNP	C	C	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:103442220C>G	ENST00000361246.2	-	10	1675	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	463					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E463Q(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGCCCTCACCTTGCAGCTTC	0.662													13	154	---	---	---	---	0	0
SLC12A6	9990	broad.mit.edu	37	15	34531251	34531251	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:34531251C>A	ENST00000354181.3	-	20	3039	c.2547G>T	c.(2545-2547)ggG>ggT	p.G849G	SLC12A6_ENST00000397702.2_Silent_p.G790G|SLC12A6_ENST00000397707.2_Silent_p.G834G|SLC12A6_ENST00000290209.5_Silent_p.G798G|SLC12A6_ENST00000558589.1_Silent_p.G840G|SLC12A6_ENST00000560164.1_Silent_p.G661G|SLC12A6_ENST00000458406.2_Silent_p.G790G|SLC12A6_ENST00000558667.1_Silent_p.G849G|SLC12A6_ENST00000560611.1_Silent_p.G849G|SLC12A6_ENST00000451844.2_Silent_p.G661G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	849					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCTTCATGCCCCCAAGGCCAC	0.542													9	465	---	---	---	---	0	0
CHP1	11261	broad.mit.edu	37	15	41523608	41523608	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:41523608C>T	ENST00000334660.5	+	1	268	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	CHP1_ENST00000560397.1_Missense_Mutation_p.R10W|CHP1_ENST00000558351.1_Intron	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	10					potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity	p.R10W(1)									CACGTTACTGCGGGACGAAGA	0.677													3	7	---	---	---	---	0	0
CGNL1	84952	broad.mit.edu	37	15	57730877	57730877	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:57730877C>A	ENST00000281282.5	+	2	758	c.680C>A	c.(679-681)cCc>cAc	p.P227H		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	227	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATAGAGGACCCCAAAAAGCAG	0.557													5	297	---	---	---	---	0	0
TICRR	90381	broad.mit.edu	37	15	90129088	90129088	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr15:90129088C>A	ENST00000268138.7	+	4	1431	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P	TICRR_ENST00000560985.1_Silent_p.P441P|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		CTGACAGCCCCCGGGACACAG	0.493													6	232	---	---	---	---	0	0
ZNF778	197320	broad.mit.edu	37	16	89294346	89294346	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89294346G>T	ENST00000433976.2	+	6	1898	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	ZNF778_ENST00000306502.6_Missense_Mutation_p.E480D|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E522D(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TACTGAATGAGCATGTGAAAA	0.458													7	108	---	---	---	---	0	0
ZNF276	92822	broad.mit.edu	37	16	89789105	89789105	+	Silent	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89789105T>A	ENST00000289816.5	+	2	459	c.147T>A	c.(145-147)gcT>gcA	p.A49A	ZNF276_ENST00000568064.1_Silent_p.A49A|ZNF276_ENST00000443381.2_Silent_p.A124A|ZNF276_ENST00000446326.2_5'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTGGTGTGGCTGTCCGCCAGG	0.637													4	106	---	---	---	---	0	0
KDM6B	23135	broad.mit.edu	37	17	7754485	7754485	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:7754485C>A	ENST00000254846.5	+	14	4209	c.3820C>A	c.(3820-3822)Cac>Aac	p.H1274N	KDM6B_ENST00000448097.2_Missense_Mutation_p.H1274N	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1274					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTCCCGTTCCCACACCACCAT	0.602													4	112	---	---	---	---	0	0
COX10	1352	broad.mit.edu	37	17	14110351	14110351	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:14110351G>T	ENST00000261643.3	+	7	1230	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	COX10_ENST00000537334.1_Missense_Mutation_p.A168S|COX10_ENST00000536205.1_Missense_Mutation_p.A193S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	385					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCCCATCATGGCCCTTCCCAT	0.647													5	194	---	---	---	---	0	0
CPD	1362	broad.mit.edu	37	17	28770867	28770867	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:28770867G>T	ENST00000225719.4	+	11	2497	c.2421G>T	c.(2419-2421)agG>agT	p.R807S	CPD_ENST00000543464.2_Missense_Mutation_p.R560S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	807	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAGATGGCAGGGGTATATTAA	0.403													7	460	---	---	---	---	0	0
TBC1D29	26083	broad.mit.edu	37	17	28886736	28886736	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:28886736G>T	ENST00000580161.1	+	2	2501	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	TBC1D29_ENST00000579181.1_Missense_Mutation_p.G2W|TBC1D29_ENST00000584297.1_Missense_Mutation_p.G2W			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	2	Rab-GAP TBC; truncated.					intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CAAGACCATGGGGCATCTGGT	0.627													5	258	---	---	---	---	0	0
KRT14	3861	broad.mit.edu	37	17	39741238	39741238	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:39741238G>C	ENST00000167586.6	-	2	683	c.597C>G	c.(595-597)gaC>gaG	p.D199E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	199	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.D199E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TGGTGCGGAAGTCATCCGCGG	0.502													4	96	---	---	---	---	0	0
ROCK1	6093	broad.mit.edu	37	18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:18586746T>A	ENST00000399799.2	-	15	2492	c.1552A>T	c.(1552-1554)Aca>Tca	p.T518S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.T518S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTTTAATGTAGAAACTAGA	0.308													6	280	---	---	---	---	0	0
ZNF516	9658	broad.mit.edu	37	18	74091047	74091047	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:74091047T>A	ENST00000443185.2	-	4	3340	c.3023A>T	c.(3022-3024)cAg>cTg	p.Q1008L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1008					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q1008L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCTCAGCTCCTGGGCTGCCTT	0.706													25	29	---	---	---	---	0	0
DNMT1	1786	broad.mit.edu	37	19	10291243	10291243	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:10291243C>A	ENST00000340748.4	-	4	463	c.228G>T	c.(226-228)gaG>gaT	p.E76D	DNMT1_ENST00000540357.1_Missense_Mutation_p.E76D|DNMT1_ENST00000359526.4_Missense_Mutation_p.E76D			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	76	Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCAGGTAGCCCTCCTACAGCA	0.408													5	198	---	---	---	---	0	0
SIN3B	23309	broad.mit.edu	37	19	16952650	16952650	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:16952650C>A	ENST00000379803.1	+	4	467	c.453C>A	c.(451-453)ccC>ccA	p.P151P	SIN3B_ENST00000248054.5_Silent_p.P151P|SIN3B_ENST00000596802.1_Silent_p.P151P	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	151					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	p.P151P(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGACAAACCCCAGGTGCCCC	0.517													4	149	---	---	---	---	0	0
ZBTB32	27033	broad.mit.edu	37	19	36207474	36207474	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36207474C>A	ENST00000392197.2	+	7	1602	c.1284C>A	c.(1282-1284)taC>taA	p.Y428*	ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.Y428*			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	428					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGCTCCGTACCGCTGCTCCC	0.682											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	118	---	---	---	---	0	0
APLP1	333	broad.mit.edu	37	19	36360602	36360602	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36360602G>T	ENST00000221891.4	+	2	373	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W	APLP1_ENST00000537454.2_Missense_Mutation_p.G22W|APLP1_ENST00000586861.1_Missense_Mutation_p.G55W	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	61					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGACTATGCGGGCGCCTAAC	0.687													3	34	---	---	---	---	0	0
LRFN3	79414	broad.mit.edu	37	19	36431059	36431059	+	Silent	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36431059G>A	ENST00000588831.1	+	3	1786	c.732G>A	c.(730-732)ctG>ctA	p.L244L	LRFN3_ENST00000246529.3_Silent_p.L244L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	244					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCTGGTGCTGGCCTTTGGCG	0.721													3	42	---	---	---	---	0	0
TMEM145	284339	broad.mit.edu	37	19	42819344	42819344	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:42819344C>A	ENST00000598766.1	+	7	582	c.582C>A	c.(580-582)atC>atA	p.I194I	TMEM145_ENST00000301204.3_Silent_p.I170I			Q8NBT3	TM145_HUMAN	transmembrane protein 145	170						integral to membrane		p.I170I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGGCAGGGATCCTGGAGACAG	0.532													5	129	---	---	---	---	0	0
PRKD2	25865	broad.mit.edu	37	19	47195016	47195016	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:47195016C>A	ENST00000433867.1	-	13	2155	c.1678G>T	c.(1678-1680)Ggg>Tgg	p.G560W	PRKD2_ENST00000595515.1_Missense_Mutation_p.G560W|PRKD2_ENST00000600194.1_Missense_Mutation_p.G403W|PRKD2_ENST00000601806.1_Missense_Mutation_p.G403W|PRKD2_ENST00000291281.4_Missense_Mutation_p.G560W	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	560	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCAAACTGCCCTGAGCCCAGC	0.582													4	133	---	---	---	---	0	0
SHANK1	50944	broad.mit.edu	37	19	51191309	51191309	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:51191309C>A	ENST00000293441.1	-	17	2197	c.2179G>T	c.(2179-2181)Ggg>Tgg	p.G727W	SHANK1_ENST00000359082.3_Missense_Mutation_p.G718W|SHANK1_ENST00000391814.1_Missense_Mutation_p.G727W|SHANK1_ENST00000391813.1_Missense_Mutation_p.G114W	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	727	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACATTCTGCCCGTTCACCTGT	0.617													4	157	---	---	---	---	0	0
ZFP28	140612	broad.mit.edu	37	19	57059269	57059269	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:57059269C>A	ENST00000301318.3	+	4	592	c.521C>A	c.(520-522)cCa>cAa	p.P174Q	ZFP28_ENST00000591844.1_Missense_Mutation_p.P174Q|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	174	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GCCTGGTGCCCAGGTGAGTGT	0.512													4	119	---	---	---	---	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850175	58850175	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:58850175G>T	ENST00000329665.4	+	3	1106	c.959G>T	c.(958-960)gGg>gTg	p.G320V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GTCCACACAGGGGCGAAGCCC	0.567													5	244	---	---	---	---	0	0
CHD6	0	broad.mit.edu	37	20	40044151	40044151	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr20:40044151G>T	ENST00000373233.3	-	34	6791	c.6614C>A	c.(6613-6615)cCt>cAt	p.P2205H		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2205					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGGATGATAGGGGTGTGCCC	0.597													4	68	---	---	---	---	0	0
IGLV2-23	0	broad.mit.edu	37	22	23040734	23040734	+	RNA	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:23040734C>A	ENST00000390306.2	+	0	344																											CAACAGCACCCAGGCAAAGCC	0.552													8	444	---	---	---	---	0	0
DEPDC5	9681	broad.mit.edu	37	22	32229973	32229973	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:32229973G>A	ENST00000536766.1	+	22	2030	c.1859G>A	c.(1858-1860)aGg>aAg	p.R620K	DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000400248.2_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction			p.?(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCAAGTAAGAGGGGGCAGCTG	0.502													23	452	---	---	---	---	0	0
MYH9	4627	broad.mit.edu	37	22	36701115	36701115	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:36701115C>A	ENST00000216181.5	-	18	2423	c.2193G>T	c.(2191-2193)aaG>aaT	p.K731N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	731	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCATGAAACCCTTGGGAATGG	0.547			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				4	146	---	---	---	---	0	0
MFNG	4242	broad.mit.edu	37	22	37875495	37875495	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:37875495C>A	ENST00000356998.3	-	4	672	c.449G>T	c.(448-450)aGg>aTg	p.R150M	MFNG_ENST00000416983.3_Missense_Mutation_p.R136M	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	150					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CAGCAGCGCCCTTGGGTTCAC	0.617													4	80	---	---	---	---	0	0
XRCC6	2547	broad.mit.edu	37	22	42052956	42052956	+	Silent	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:42052956C>A	ENST00000359308.4	+	9	1996	c.1341C>A	c.(1339-1341)ccC>ccA	p.P447P	XRCC6_ENST00000402580.3_Silent_p.P406P|XRCC6_ENST00000405506.1_Silent_p.P397P|XRCC6_ENST00000405878.1_Silent_p.P447P|XRCC6_ENST00000360079.3_Silent_p.P447P|XRCC6_ENST00000428575.2_Silent_p.P314P			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	447	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAGATGCCCTTTACTGAAA	0.423								Non-homologous end-joining					4	148	---	---	---	---	0	0
TCF20	6942	broad.mit.edu	37	22	42610895	42610895	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:42610895A>G	ENST00000359486.3	-	1	553	c.417T>C	c.(415-417)ttT>ttC	p.F139F	TCF20_ENST00000335626.4_Silent_p.F139F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.F139F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGTGCTTGAAACTGGCCCA	0.577													56	162	---	---	---	---	0	0
BCOR	54880	broad.mit.edu	37	X	39914706	39914706	+	Silent	SNP	A	A	G			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:39914706A>G	ENST00000342274.4	-	12	4916	c.4554T>C	c.(4552-4554)taT>taC	p.Y1518Y	BCOR_ENST00000378444.4_Silent_p.Y1552Y|BCOR_ENST00000378463.1_Silent_p.Y395Y|BCOR_ENST00000397354.3_Silent_p.Y1518Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1552					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.Y1518Y(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTCAGCACCATAAGAGAGAA	0.453			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						8	83	---	---	---	---	0	0
PCDH19	57526	broad.mit.edu	37	X	99662671	99662671	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:99662671C>A	ENST00000373034.4	-	1	2600	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W	PCDH19_ENST00000255531.7_Missense_Mutation_p.G309W|PCDH19_ENST00000420881.2_Missense_Mutation_p.G309W	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	309	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TACACGTGCCCCTCTTCGTAG	0.587													4	62	---	---	---	---	0	0
IGSF1	3547	broad.mit.edu	37	X	130407832	130407832	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:130407832G>T	ENST00000370904.1	-	26	4832	c.3922C>A	c.(3922-3924)Cct>Act	p.P1308T	IGSF1_ENST00000370903.3_Missense_Mutation_p.P1322T|IGSF1_ENST00000361420.3_Missense_Mutation_p.P1317T|IGSF1_ENST00000370910.1_Missense_Mutation_p.P1308T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1317					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAATTGGCAGGGGTGCCTGGT	0.463													5	189	---	---	---	---	0	0
MT-ND4	4538	broad.mit.edu	37	M	10869	10869	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrM:10869T>C	ENST00000361381.2	+	1	110	c.110T>C	c.(109-111)aTc>aCc	p.I37T						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TATTAGCATCATCCCCCTACT	0.398													2	3	---	---	---	---	0	0
GPR157	80045	broad.mit.edu	37	1	9171452	9171452	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:9171452G>A	ENST00000377411.4	-	2	622	c.480C>T	c.(478-480)gaC>gaT	p.D160D	GPR157_ENST00000414642.2_Silent_p.D160D	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	160						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D160D(1)		lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCCTCCAGGTCGATCCAGC	0.617											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	68	---	---	---	---	0	0
TCEB3	6924	broad.mit.edu	37	1	24080617	24080617	+	Missense_Mutation	SNP	A	A	C	rs144826294	byFrequency	TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:24080617A>C	ENST00000418390.2	+	6	1914	c.1643A>C	c.(1642-1644)gAa>gCa	p.E548A	TCEB3_ENST00000609199.1_Missense_Mutation_p.E522A	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	548	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	p.E522A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAAGAAGAAGAAGCTGGATTT	0.478													5	189	---	---	---	---	0	0
ETV3	2117	broad.mit.edu	37	1	157104014	157104014	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:157104014T>C	ENST00000368192.4	-	4	354	c.290A>G	c.(289-291)tAt>tGt	p.Y97C	ETV3_ENST00000326786.4_Missense_Mutation_p.Y97C	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	97							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y97C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CTTGTTGTAATAGTATCTGTA	0.368													9	90	---	---	---	---	0	0
CACNA1E	777	broad.mit.edu	37	1	181727100	181727100	+	Silent	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:181727100C>T	ENST00000526775.1	+	30	4455	c.4290C>T	c.(4288-4290)ttC>ttT	p.F1430F	CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000358338.5_Silent_p.F1381F|CACNA1E_ENST00000367573.2_Silent_p.F1449F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000357570.5_Silent_p.F1400F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1449					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F1449F(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCATCGACTTCGCCATCAGCG	0.522													14	122	---	---	---	---	0	0
WDR64	128025	broad.mit.edu	37	1	241946665	241946665	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:241946665C>G	ENST00000366552.2	+	22	2864	c.2657C>G	c.(2656-2658)tCc>tGc	p.S886C	WDR64_ENST00000437684.2_Missense_Mutation_p.S719C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	886								p.S886C(1)|p.S439C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTACTGCCTCCATCGATGGC	0.393													4	82	---	---	---	---	0	0
PUM2	23369	broad.mit.edu	37	2	20458017	20458017	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:20458017G>T	ENST00000361078.2	-	15	2493	c.2471C>A	c.(2470-2472)tCt>tAt	p.S824Y	PUM2_ENST00000338086.5_Missense_Mutation_p.S824Y|PUM2_ENST00000536417.1_Missense_Mutation_p.S768Y|PUM2_ENST00000403432.1_Missense_Mutation_p.S824Y|PUM2_ENST00000319801.5_Missense_Mutation_p.S745Y			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	824	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.S824Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTCAGAAGAAATAGATTC	0.328													20	57	---	---	---	---	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521376	125521376	+	Splice_Site	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:125521376C>T	ENST00000431078.1	+	15	2723	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	787	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.R787*(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTATGGTGACCGTGAGTACAA	0.458													11	56	---	---	---	---	0	0
IL17RC	84818	broad.mit.edu	37	3	9969889	9969889	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:9969889T>A	ENST00000295981.3	+	10	1293	c.1075T>A	c.(1075-1077)Tgc>Agc	p.C359S	IL17RC_ENST00000403601.3_Missense_Mutation_p.C288S|IL17RC_ENST00000413608.1_Missense_Mutation_p.C288S|IL17RC_ENST00000383812.4_Missense_Mutation_p.C273S|IL17RC_ENST00000455057.1_Missense_Mutation_p.C273S|IL17RC_ENST00000416074.2_Missense_Mutation_p.C144S|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	359						integral to membrane|plasma membrane	receptor activity	p.C359S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACGAACATCTGCCCCTTCAG	0.637													12	166	---	---	---	---	0	0
CCDC174	51244	broad.mit.edu	37	3	14703060	14703060	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:14703060C>T	ENST00000383794.3	+	5	404	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	CCDC174_ENST00000303688.7_Missense_Mutation_p.L111F	NM_016474.4	NP_057558.3			coiled-coil domain containing 174									p.L111F(1)									GGATATGTACCTTGTGGATTT	0.408													5	180	---	---	---	---	0	0
MORC1	27136	broad.mit.edu	37	3	108818255	108818255	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:108818255T>C	ENST00000232603.5	-	6	455	c.373A>G	c.(373-375)Acc>Gcc	p.T125A	MORC1_ENST00000483760.1_Missense_Mutation_p.T125A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	125					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.T125A(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AACACACAGGTCATCGTTTCT	0.343													12	115	---	---	---	---	0	0
MB21D2	151963	broad.mit.edu	37	3	192517393	192517393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:192517393G>T	ENST00000392452.2	-	2	578	c.258C>A	c.(256-258)taC>taA	p.Y86*		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	86								p.Y84*(1)|p.Y86*(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AGAGCAACAGGTATTCATTAG	0.453													9	59	---	---	---	---	0	0
CDH18	1016	broad.mit.edu	37	5	19503127	19503127	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:19503127G>A	ENST00000507958.1	-	13	2594	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	CDH18_ENST00000502796.1_Missense_Mutation_p.P535L|CDH18_ENST00000511273.1_Missense_Mutation_p.P535L|CDH18_ENST00000382275.1_Missense_Mutation_p.P535L|CDH18_ENST00000506372.1_Missense_Mutation_p.P535L|CDH18_ENST00000274170.4_Missense_Mutation_p.P535L			Q13634	CAD18_HUMAN	cadherin 18, type 2	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P535L(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTGAAGTTTGGATTTACAGG	0.348													13	121	---	---	---	---	0	0
HSPB3	8988	broad.mit.edu	37	5	53752034	53752034	+	Silent	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:53752034T>C	ENST00000302005.1	+	1	590	c.415T>C	c.(415-417)Ttg>Ctg	p.L139L		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	139					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		p.L139L(2)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TGATGGAATTTTGGTGGTGGA	0.458													5	204	---	---	---	---	0	0
ANKRD55	79722	broad.mit.edu	37	5	55472069	55472069	+	Silent	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:55472069C>T	ENST00000341048.4	-	4	373	c.222G>A	c.(220-222)gcG>gcA	p.A74A	ANKRD55_ENST00000504958.2_Silent_p.A74A|ANKRD55_ENST00000513241.2_Silent_p.A45A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	73								p.A74A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCACTGTGTCCGCTTGACGTC	0.493													5	206	---	---	---	---	0	0
PCDHA11	0	broad.mit.edu	37	5	140250899	140250899	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140250899G>A	ENST00000398640.2	+	1	2211	c.2211G>A	c.(2209-2211)acG>acA	p.T737T	PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1												p.T737T(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCCCACGCTGGTGTGCT	0.687													4	29	---	---	---	---	0	0
PCDHB12	0	broad.mit.edu	37	5	140588556	140588556	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140588556C>T	ENST00000239450.2	+	1	266	c.77C>T	c.(76-78)gCg>gTg	p.A26V	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		26					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A26V(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGTCTCAGGCGGGCTCTGAA	0.498													4	142	---	---	---	---	0	0
PCDHGA10	0	broad.mit.edu	37	5	140794640	140794640	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140794640C>T	ENST00000398610.2	+	1	1898	c.1898C>T	c.(1897-1899)gCg>gTg	p.A633V	PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1												p.A633V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.692													29	59	---	---	---	---	0	0
TNXB	7148	broad.mit.edu	37	6	32021196	32021196	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr6:32021196G>A	ENST00000375244.3	-	25	8961	c.8760C>T	c.(8758-8760)cgC>cgT	p.R2920R	TNXB_ENST00000375247.2_Silent_p.R2918R			P22105	TENX_HUMAN	tenascin XB	2967	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R2996R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGCCCACGCGCTGGCCAC	0.632													5	15	---	---	---	---	0	0
MDN1	23195	broad.mit.edu	37	6	90382073	90382073	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr6:90382073T>C	ENST00000369393.3	-	82	13755	c.13640A>G	c.(13639-13641)gAg>gGg	p.E4547G	MDN1_ENST00000428876.1_Missense_Mutation_p.E4547G|MDN1_ENST00000468568.1_5'UTR			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4547					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.E4547G(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGCAGTCTCTCAAAGCCTGC	0.398													3	139	---	---	---	---	0	0
KLHL7	55975	broad.mit.edu	37	7	23164685	23164685	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:23164685C>G	ENST00000339077.5	+	4	579	c.336C>G	c.(334-336)aaC>aaG	p.N112K	KLHL7_ENST00000322231.7_Missense_Mutation_p.N90K|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000410047.1_Missense_Mutation_p.N90K|KLHL7_ENST00000409689.1_Missense_Mutation_p.N64K|KLHL7_ENST00000539124.1_Missense_Mutation_p.N36K|KLHL7_ENST00000545443.1_Missense_Mutation_p.N90K|KLHL7_ENST00000545771.1_Missense_Mutation_p.N90K|KLHL7_ENST00000322275.5_Missense_Mutation_p.N112K|KLHL7_ENST00000479288.1_Intron	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane		p.N90K(1)|p.N112K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAATAGCAACAATGTTCAGT	0.328													8	97	---	---	---	---	0	0
KIAA0895	23366	broad.mit.edu	37	7	36423479	36423479	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:36423479A>G	ENST00000297063.6	-	2	217	c.167T>C	c.(166-168)tTc>tCc	p.F56S		NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	56								p.F56S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGAGGTAGAGAACTTGAGTTT	0.358													6	78	---	---	---	---	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538928	23538928	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:23538928A>G	ENST00000380871.4	-	2	548	c.511T>C	c.(511-513)Tgg>Cgg	p.W171R	NKX3-1_ENST00000523261.1_Missense_Mutation_p.W96R	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	171					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	p.W171R(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TTCTGGAACCATATCTTCACT	0.562													15	248	---	---	---	---	0	0
RAD21	5885	broad.mit.edu	37	8	117878924	117878924	+	Silent	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:117878924G>A	ENST00000297338.2	-	2	332	c.45C>T	c.(43-45)gcC>gcT	p.A15A	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	15					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	p.A15A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GCCAAATTTTGGCCAGAGGCC	0.433													3	85	---	---	---	---	0	0
FCN1	2219	broad.mit.edu	37	9	137803057	137803057	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr9:137803057T>C	ENST00000371806.3	-	8	746	c.655A>G	c.(655-657)Aag>Gag	p.K219E		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	219	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.K219E(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GATTTGTACTTAGCAAACTGG	0.527													10	434	---	---	---	---	0	0
LHX3	8022	broad.mit.edu	37	9	139090531	139090531	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr9:139090531C>T	ENST00000371746.3	-	5	875	c.757G>A	c.(757-759)Ggg>Agg	p.G253R	LHX3_ENST00000371748.5_Missense_Mutation_p.G248R	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	248					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G253R(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGTCCTGCCCCTCCTGAACG	0.711													9	15	---	---	---	---	0	0
NELL1	4745	broad.mit.edu	37	11	21596534	21596534	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:21596534G>T	ENST00000298925.5	+	21	2636	c.2483G>T	c.(2482-2484)tGt>tTt	p.C828F	NELL1_ENST00000357134.5_Missense_Mutation_p.C800F|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.C753F|NELL1_ENST00000325319.5_Missense_Mutation_p.C743F			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	800					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.C800F(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAGTCTGTTGTTCTGTGGAT	0.358													3	87	---	---	---	---	0	0
MADD	8567	broad.mit.edu	37	11	47345221	47345221	+	Splice_Site	SNP	G	G	C			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:47345221G>C	ENST00000342922.4	+	28	4557		c.e28-1		MADD_ENST00000311027.5_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000402192.2_Splice_Site	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain						activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.?(2)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CACTTCTCCAGGTGTGCGATG	0.542													3	97	---	---	---	---	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798258	55798258	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:55798258C>T	ENST00000313555.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	122			R -> L (in dbSNP:rs12224086).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(3)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGCTTATGACCGCTATGCAGC	0.458													11	127	---	---	---	---	0	0
SPDYC	387778	broad.mit.edu	37	11	64939787	64939787	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:64939787G>A	ENST00000377185.2	+	4	411	c.329G>A	c.(328-330)aGc>aAc	p.S110N		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	110	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding	p.S110N(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ACCCACAGCAGCCTGTTCTTG	0.612													10	113	---	---	---	---	0	0
PXN	5829	broad.mit.edu	37	12	120657110	120657110	+	Translation_Start_Site	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr12:120657110G>A	ENST00000397506.3	-	0	71				PXN_ENST00000424649.2_Intron|PXN_ENST00000536957.1_Intron|PXN_ENST00000458477.2_Intron|PXN_ENST00000267257.7_Intron|PXN_ENST00000228307.7_Intron|PXN_ENST00000538144.1_Intron			P49023	PAXI_HUMAN	paxillin						cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCAGCTTCCGTGGTGCCCTC	0.622													4	121	---	---	---	---	0	0
FNDC3A	22862	broad.mit.edu	37	13	49776084	49776084	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr13:49776084G>T	ENST00000492622.2	+	24	3441	c.3136G>T	c.(3136-3138)Gtc>Ttc	p.V1046F	FNDC3A_ENST00000398316.3_Missense_Mutation_p.V990F|FNDC3A_ENST00000541916.1_Missense_Mutation_p.V1046F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1046						Golgi membrane|integral to membrane		p.V1046F(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TCCAAAATCTGTCCCAGCTGC	0.318													7	167	---	---	---	---	0	0
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""								7	19	---	---	---	---	0	0
NUTM1	256646	broad.mit.edu	37	15	34649647	34649647	+	Silent	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr15:34649647C>T	ENST00000537011.1	+	8	3820	c.3438C>T	c.(3436-3438)gaC>gaT	p.D1146D	NUTM1_ENST00000438749.3_Silent_p.D1136D|NUTM1_ENST00000333756.4_Silent_p.D1118D	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1									p.D1118D(1)									GGCGGTGTGACAGTTTTGTCA	0.582													65	87	---	---	---	---	0	0
ALDH1A3	220	broad.mit.edu	37	15	101425511	101425511	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr15:101425511A>G	ENST00000329841.5	+	2	671	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K47E|ALDH1A3_ENST00000560555.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	47					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	p.K47E(2)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CAAGAGTGGGAAAAAGTTTGC	0.333													33	88	---	---	---	---	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568237	7568237	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:7568237C>T	ENST00000340209.4	+	2	428	c.131C>T	c.(130-132)gCg>gTg	p.A44V	RBFOX1_ENST00000355637.4_Missense_Mutation_p.A59V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A75V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A59V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A75V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A59V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A82V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A39V			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	39					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.A59V(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGTATCCCCGCGGAATACACG	0.612													22	199	---	---	---	---	0	0
TVP23C	201158	broad.mit.edu	37	17	15441443	15441443	+	Nonstop_Mutation	SNP	A	A	G			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr17:15441443A>G	ENST00000584811.1	-	7	1839	c.424T>C	c.(424-426)Tga>Cga	p.*142R	TVP23C_ENST00000438826.3_Nonstop_Mutation_p.*206R|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Nonstop_Mutation_p.*206R|TVP23C-CDRT4_ENST00000522212.2_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TTCTCTATTCAGGAAGTCTGA	0.418													9	120	---	---	---	---	0	0
CNOT3	4849	broad.mit.edu	37	19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.E20K(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTGTCCGAGGGCGTGGA	0.557													19	241	---	---	---	---	0	0
AIFM3	150209	broad.mit.edu	37	22	21330001	21330001	+	Missense_Mutation	SNP	G	G	T	rs143272206		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr22:21330001G>T	ENST00000399167.2	+	9	981	c.741G>T	c.(739-741)gaG>gaT	p.E247D	AIFM3_ENST00000405089.1_Missense_Mutation_p.E253D|AIFM3_ENST00000440238.2_Missense_Mutation_p.E247D|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.E235D|AIFM3_ENST00000333607.6_Missense_Mutation_p.E247D|AIFM3_ENST00000399163.2_Missense_Mutation_p.E247D	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3									p.E247D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACAGCCTGAGCAGCTGGCCC	0.632													11	129	---	---	---	---	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83411185	83411185	+	Silent	SNP	A	A	T			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:83411185A>T	ENST00000262752.2	-	3	163	c.156T>A	c.(154-156)gtT>gtA	p.V52V	RPS6KA6_ENST00000543399.1_Silent_p.V52V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	52					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.V52V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GGATTTCTTTAACAACTCCTT	0.353													5	39	---	---	---	---	0	0
MST4	0	broad.mit.edu	37	X	131207114	131207114	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:131207114T>A	ENST00000394334.2	+	11	1472	c.1219T>A	c.(1219-1221)Ttt>Att	p.F407I	MST4_ENST00000481105.1_Missense_Mutation_p.F429I|MST4_ENST00000394335.2_Missense_Mutation_p.F330I|MST4_ENST00000354719.6_Missense_Mutation_p.F383I|MST4_ENST00000496850.1_Missense_Mutation_p.F345I	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		407					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.F407I(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AATTGAAAAATTTCAAAAGTA	0.343													3	66	---	---	---	---	0	0
MT-ND4	4538	broad.mit.edu	37	M	11775	11775	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrM:11775G>A	ENST00000361381.2	+	1	1016	c.1016G>A	c.(1015-1017)aGt>aAt	p.S339N						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						ACGCACTCACAGTCGCATCAT	0.493													3	5	---	---	---	---	0	0
ETV3L	440695	broad.mit.edu	37	1	157067666	157067666	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:157067666C>T	ENST00000454449.2	-	4	885	c.601G>A	c.(601-603)Gtc>Atc	p.V201I		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V201I(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TCACGGTAGACGCTGCTGCTG	0.632													25	202	---	---	---	---	0	0
INTS7	25896	broad.mit.edu	37	1	212118153	212118153	+	Silent	SNP	C	C	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:212118153C>T	ENST00000366994.3	-	19	2678	c.2574G>A	c.(2572-2574)ctG>ctA	p.L858L	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.L838L|INTS7_ENST00000440600.2_Silent_p.L809L|INTS7_ENST00000366993.3_Silent_p.L844L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	858					snRNA processing	integrator complex	protein binding	p.L858L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATTTACTCTGCAGTGTGGAAG	0.423													24	160	---	---	---	---	0	0
ZNF827	152485	broad.mit.edu	37	4	146824230	146824230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:146824230G>A	ENST00000508784.1	-	2	408	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.Q61*			Q17R98	ZN827_HUMAN	zinc finger protein 827	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q61*(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GACTGCTCCTGGATCCGGTCC	0.567													14	79	---	---	---	---	0	0
EEF1E1	9521	broad.mit.edu	37	6	8097597	8097597	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr6:8097597G>A	ENST00000379715.5	-	2	247	c.191C>T	c.(190-192)aCt>aTt	p.T64I	EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000429723.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000507463.1_Missense_Mutation_p.T64I	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	64	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		p.T64I(1)		endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TTCTTCTGCAGTACTCCCCAG	0.428													18	162	---	---	---	---	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142195	55142195	+	Silent	SNP	T	T	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr6:55142195T>C	ENST00000370862.3	+	5	1116	c.780T>C	c.(778-780)tcT>tcC	p.S260S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	260					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAACATCATCTGTAGTTCAGA	0.483													9	75	---	---	---	---	0	0
FNTA	2339	broad.mit.edu	37	8	42914260	42914260	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:42914260G>T	ENST00000302279.3	+	2	420	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.D33Y|FNTA_ENST00000524546.1_3'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	76					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGCTGATATAGATCCGGTGCC	0.398													4	53	---	---	---	---	0	0
IL7	3574	broad.mit.edu	37	8	79645969	79645969	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:79645969C>G	ENST00000263851.4	-	6	1113	c.513G>C	c.(511-513)ttG>ttC	p.L171F	IL7_ENST00000520269.1_Missense_Mutation_p.L127F|IL7_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.L58F	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	171					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						TAGTGCCCATCAAAATTTTAT	0.323													15	103	---	---	---	---	0	0
BAI1	575	broad.mit.edu	37	8	143558817	143558817	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:143558817C>T	ENST00000517894.1	+	6	2188	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	BAI1_ENST00000323289.5_Missense_Mutation_p.R432C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	432	TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTTTCGGGATCGCACGCGCAC	0.652													6	119	---	---	---	---	0	0
MUC2	4583	broad.mit.edu	37	11	1081737	1081737	+	Silent	SNP	C	C	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:1081737C>T	ENST00000441003.2	+	13	1692	c.1665C>T	c.(1663-1665)aaC>aaT	p.N555N	MUC2_ENST00000359061.5_Silent_p.N555N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	555	VWFD 2.					inner mucus layer|outer mucus layer	protein binding	p.N555N(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTTTGCCAACACCTGGAAGG	0.652													13	57	---	---	---	---	0	0
SLC1A2	6506	broad.mit.edu	37	11	35313864	35313864	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:35313864G>A	ENST00000278379.3	-	7	1343	c.1061C>T	c.(1060-1062)gCt>gTt	p.A354V	SLC1A2_ENST00000606205.1_Missense_Mutation_p.A354V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A345V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	354					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGTGATCCAAGCTTGGAAAAT	0.463													19	419	---	---	---	---	0	0
OR4S2	219431	broad.mit.edu	37	11	55418689	55418689	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:55418689T>A	ENST00000312422.2	+	1	310	c.310T>A	c.(310-312)Ttc>Atc	p.F104I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGGAGTACATTTCTTTGGTTG	0.428													19	288	---	---	---	---	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128868319	128868319	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:128868319T>C	ENST00000310343.9	-	11	1047	c.1048A>G	c.(1048-1050)Atg>Gtg	p.M350V	ARHGAP32_ENST00000392657.3_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M276V|ARHGAP32_ENST00000527272.1_Start_Codon_SNP_p.M1V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	350					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.M1V(2)|p.M350V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CGAGACTTCATGAATGTTCGT	0.403													19	128	---	---	---	---	0	0
ASUN	55726	broad.mit.edu	37	12	27081791	27081791	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:27081791A>C	ENST00000261191.7	-	4	884	c.348T>G	c.(346-348)gaT>gaG	p.D116E	ASUN_ENST00000539625.1_Missense_Mutation_p.D15E	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	116					cell division|mitosis|regulation of mitotic cell cycle		protein binding										AGCACTCTGGATCTGCCCGAG	0.448													4	74	---	---	---	---	0	0
KMT2D	8085	broad.mit.edu	37	12	49430959	49430959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:49430959G>A	ENST00000301067.7	-	34	10179	c.10180C>T	c.(10180-10182)Cag>Tag	p.Q3394*	KMT2D_ENST00000549743.1_5'UTR	NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.Q3394*(1)|p.Q3124*(1)									GCCAATTGCTGCGGCTTCATG	0.537													8	39	---	---	---	---	0	0
CSAD	51380	broad.mit.edu	37	12	53567192	53567192	+	Silent	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:53567192G>A	ENST00000267085.4	-	4	377	c.144C>T	c.(142-144)ctC>ctT	p.L48L	CSAD_ENST00000379846.1_Silent_p.L21L|CSAD_ENST00000379843.3_Silent_p.L21L|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000542115.1_Silent_p.L21L|CSAD_ENST00000453446.2_Silent_p.L21L|CSAD_ENST00000444623.1_Silent_p.L21L	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	21					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ACACGGCCCGGAGCAAGGCTT	0.562													11	104	---	---	---	---	0	0
SSH1	54434	broad.mit.edu	37	12	109181845	109181845	+	Missense_Mutation	SNP	C	C	G	rs146644569		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:109181845C>G	ENST00000326495.5	-	15	3162	c.3069G>C	c.(3067-3069)agG>agC	p.R1023S	SSH1_ENST00000360239.3_Missense_Mutation_p.R711S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1023	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R1023S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGCTGGGTCCCTCGGGGTTC	0.572													28	187	---	---	---	---	0	0
CLN5	1203	broad.mit.edu	37	13	77570129	77570129	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr13:77570129T>G	ENST00000377453.3	+	3	1871	c.579T>G	c.(577-579)tgT>tgG	p.C193W	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	144					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGGCAACTGTACATTTCCCC	0.418													8	195	---	---	---	---	0	0
GRIN2A	0	broad.mit.edu	37	16	9858034	9858034	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr16:9858034C>A	ENST00000396573.2	-	14	3676	c.3367G>T	c.(3367-3369)Gag>Tag	p.E1123*	GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E966*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1123*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1123					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1123*(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCTCCTTCTCACCATCTATA	0.522													18	286	---	---	---	---	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554289	20554289	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr16:20554289G>A	ENST00000329697.6	-	12	1624	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	ACSM2B_ENST00000567001.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P407S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	486					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.P486S(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCACAGCAGGGTGCTTCATC	0.562													13	124	---	---	---	---	0	0
KDM6B	23135	broad.mit.edu	37	17	7752710	7752710	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:7752710G>T	ENST00000254846.5	+	11	3493	c.3104G>T	c.(3103-3105)cGg>cTg	p.R1035L	KDM6B_ENST00000448097.2_Missense_Mutation_p.R1035L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1035					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGAAGTCCCGGCCCGATCTT	0.662													3	36	---	---	---	---	0	0
BLMH	642	broad.mit.edu	37	17	28616489	28616489	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:28616489T>C	ENST00000261714.6	-	3	397	c.223A>G	c.(223-225)Atc>Gtc	p.I75V	BLMH_ENST00000394819.3_Intron	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	75					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	p.I75V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						CAAGAAAAGATCCAGCATCGC	0.383													7	48	---	---	---	---	0	0
CCL7	6354	broad.mit.edu	37	17	32597376	32597376	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:32597376G>A	ENST00000378569.2	+	1	137	c.67G>A	c.(67-69)Gct>Act	p.A23T	CCL7_ENST00000394627.1_Missense_Mutation_p.A23T|CCL7_ENST00000394630.3_Missense_Mutation_p.A23T|CCL7_ENST00000200307.4_Missense_Mutation_p.A33T	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	23					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCAGGGGCTTGCTCAGCCAGG	0.557													9	85	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:47696432A>G	ENST00000393331.3	-	7	861	c.391T>C	c.(391-393)Tgg>Cgg	p.W131R	SPOP_ENST00000503676.1_Missense_Mutation_p.W131R|SPOP_ENST00000393328.2_Missense_Mutation_p.W131R|SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			25	212	---	---	---	---	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341560	55341560	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr19:55341560G>A	ENST00000391728.4	+	9	1198	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D389N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D372N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D372N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D294N	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.D389N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGACTCTGATGAACAAGA	0.527													68	361	---	---	---	---	0	0
EBP	10682	broad.mit.edu	37	X	48386620	48386620	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chrX:48386620A>T	ENST00000495186.1	+	5	1292		c.e5-1		EBP_ENST00000276096.6_Splice_Site	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)						cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11						TGCCACCCACAGGCCAGATCT	0.537													3	14	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:158626393G>C	ENST00000368147.4	-	20	3039	c.2859C>G	c.(2857-2859)gaC>gaG	p.D953E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D953E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTTCATACTGTCTCCAAATG	0.413													71	181	---	---	---	---	0	0
ASTN1	460	broad.mit.edu	37	1	177001717	177001717	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:177001717G>C	ENST00000367654.3	-	3	951	c.740C>G	c.(739-741)aCt>aGt	p.T247S	ASTN1_ENST00000367657.3_Missense_Mutation_p.T247S|ASTN1_ENST00000361833.2_Missense_Mutation_p.T247S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T247S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane		p.T247S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGCAGATCAGTGATGTCATA	0.622													18	106	---	---	---	---	0	0
UQCRC1	7384	broad.mit.edu	37	3	48638151	48638151	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr3:48638151C>T	ENST00000203407.5	-	9	1505	c.1089G>A	c.(1087-1089)atG>atA	p.M363I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	363					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	p.M363I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CATCGATTTTCATTCGGTCAC	0.542													14	92	---	---	---	---	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212486	149212486	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149212486A>T	ENST00000309241.5	+	5	882	c.850A>T	c.(850-852)Atg>Ttg	p.M284L	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.M220L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	284					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.M284L(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAGGAAGACATGCAGGCGAT	0.672													31	87	---	---	---	---	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360521	149360521	+	Silent	SNP	T	T	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149360521T>A	ENST00000286298.4	+	3	1633	c.1365T>A	c.(1363-1365)ctT>ctA	p.L455L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	455						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	p.L455L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATACTCAGCTTTCTGGTGTGG	0.418													39	92	---	---	---	---	0	0
NKAPL	222698	broad.mit.edu	37	6	28227527	28227527	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:28227527G>A	ENST00000343684.3	+	1	430	c.378G>A	c.(376-378)gaG>gaA	p.E126E		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	126								p.E126E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGGAGAGAGAGAGGATTGGGG	0.542													38	73	---	---	---	---	0	0
WNT2	7472	broad.mit.edu	37	7	116937778	116937778	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:116937778G>C	ENST00000265441.3	-	4	1040	c.741C>G	c.(739-741)aaC>aaG	p.N247K		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	247					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.N247K(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCATCCTGGTTCATGACCA	0.498													61	120	---	---	---	---	0	0
PRSS58	136541	broad.mit.edu	37	7	141955370	141955370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:141955370G>A	ENST00000552471.1	-	2	483	c.164C>T	c.(163-165)gCa>gTa	p.A55V	PRSS58_ENST00000547058.2_Missense_Mutation_p.A55V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	55	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A55V(2)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATTGCAGTGTGCAGCTGTGAT	0.522													33	78	---	---	---	---	0	0
C10orf71	118461	broad.mit.edu	37	10	50531524	50531524	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:50531524C>A	ENST00000374144.3	+	3	1222	c.934C>A	c.(934-936)Cta>Ata	p.L312I	C10orf71_ENST00000323868.4_Missense_Mutation_p.L312I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	312								p.L312I(2)		endometrium(1)	1						CACGACCTTGCTAAGAGAACC	0.577													3	65	---	---	---	---	0	0
FOLH1	2346	broad.mit.edu	37	11	49168464	49168464	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49168464C>G	ENST00000340334.7	-	20	2420	c.2052G>C	c.(2050-2052)aaG>aaC	p.K684N	FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K653N|FOLH1_ENST00000256999.2_Missense_Mutation_p.K699N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	699					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CCCCTGCATACTTGTTGTGGC	0.428													4	205	---	---	---	---	0	0
OR4C13	283092	broad.mit.edu	37	11	49974537	49974537	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49974537C>T	ENST00000555099.1	+	1	595	c.563C>T	c.(562-564)aCt>aTt	p.T188I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T188I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTTGCCTGCACTAATACCCAC	0.438													73	202	---	---	---	---	0	0
MYO7A	4647	broad.mit.edu	37	11	76868351	76868351	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:76868351G>A	ENST00000409709.3	+	8	1034	c.762G>A	c.(760-762)gtG>gtA	p.V254V	MYO7A_ENST00000409619.2_Silent_p.V243V|MYO7A_ENST00000458637.2_Silent_p.V254V|MYO7A_ENST00000409893.1_Silent_p.V254V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	254	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V254V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTACCACGTGTTCTACTGCA	0.582													11	14	---	---	---	---	0	0
VWF	7450	broad.mit.edu	37	12	6172165	6172165	+	Silent	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:6172165C>T	ENST00000261405.5	-	13	1742	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	496	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.E496E(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTGCAGGTCCTCCCCGTAGC	0.657											OREG0021618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	21	---	---	---	---	0	0
NAA25	80018	broad.mit.edu	37	12	112516059	112516059	+	Silent	SNP	A	A	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:112516059A>G	ENST00000261745.4	-	7	845	c.597T>C	c.(595-597)taT>taC	p.Y199Y		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	199						cytoplasm	protein binding	p.Y199Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGATCATATAATAAAGTTCAA	0.299													7	163	---	---	---	---	0	0
FBN1	2200	broad.mit.edu	37	15	48736776	48736776	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:48736776C>A	ENST00000316623.5	-	49	6454	c.5999G>T	c.(5998-6000)tGc>tTc	p.C2000F		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2000	EGF-like 34; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.C2000F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCAGGTGGGCAAATGCATCT	0.433													58	118	---	---	---	---	0	0
DMXL2	23312	broad.mit.edu	37	15	51855614	51855614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:51855614C>T	ENST00000251076.5	-	6	818	c.531G>A	c.(529-531)tgG>tgA	p.W177*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W177*|DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	177						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.W177*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATCAGGAGACCATTCCATCA	0.308													3	72	---	---	---	---	0	0
USP22	23326	broad.mit.edu	37	17	20910262	20910262	+	Silent	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:20910262G>A	ENST00000261497.4	-	10	1472	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.T411T	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	423					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.T645T(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ACACATACGTGGTGATCTTCC	0.547													4	25	---	---	---	---	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74562331	74562331	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:74562331G>A	ENST00000225276.5	-	9	1299	c.980C>T	c.(979-981)aCa>aTa	p.T327I		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	327					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.T327I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTAGTTGCTTGTGATGAATCC	0.448													78	155	---	---	---	---	0	0
LILRB1	0	broad.mit.edu	37	19	55148263	55148263	+	Silent	SNP	T	T	G			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:55148263T>G	ENST00000396331.1	+	16	2244	c.1887T>G	c.(1885-1887)ccT>ccG	p.P629P	LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000324602.7_Silent_p.P631P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000396332.4_Silent_p.P630P|LILRB1_ENST00000434867.2_Silent_p.P629P|LILRB1_ENST00000396327.3_Silent_p.P630P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000396321.2_Silent_p.P629P|LILRB1_ENST00000396317.1_Silent_p.P613P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	629					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAACTGAGCCTCCTCCATCCC	0.652										HNSCC(37;0.09)			4	65	---	---	---	---	0	0
ZMYND12	84217	broad.mit.edu	37	1	42898890	42898890	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:42898890T>G	ENST00000372565.3	-	7	1168	c.899A>C	c.(898-900)gAc>gCc	p.D300A	ZMYND12_ENST00000433602.2_Missense_Mutation_p.D190A|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	300						intracellular	zinc ion binding	p.D300A(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGGGCTTTGTCAGATGTAGA	0.408													33	452	---	---	---	---	0	0
MCL1	4170	broad.mit.edu	37	1	150551355	150551355	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:150551355C>T	ENST00000369026.2	-	1	711	c.652G>A	c.(652-654)Gat>Aat	p.D218N	MCL1_ENST00000307940.3_Missense_Mutation_p.D218N	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	218					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	p.D218N(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCACGCCATCCCCAACCCGT	0.622													34	92	---	---	---	---	0	0
RYR2	6262	broad.mit.edu	37	1	237754089	237754089	+	Silent	SNP	T	T	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:237754089T>A	ENST00000366574.2	+	31	4274	c.3957T>A	c.(3955-3957)gcT>gcA	p.A1319A	RYR2_ENST00000542537.1_Silent_p.A1303A|RYR2_ENST00000360064.6_Silent_p.A1317A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1319	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACGGTGGCTGGAGGGCTCC	0.512													4	221	---	---	---	---	0	0
HEATR5B	54497	broad.mit.edu	37	2	37283622	37283622	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:37283622A>G	ENST00000233099.5	-	16	2455	c.2360T>C	c.(2359-2361)cTt>cCt	p.L787P	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L787P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	787							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TACACCAAAAAGGGCCACAGA	0.393													3	175	---	---	---	---	0	0
IGKV1-17	0	broad.mit.edu	37	2	89417050	89417050	+	RNA	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:89417050C>A	ENST00000490686.1	-	0	160																											ACTTGCCCGGCAAGTGATGGT	0.498													66	255	---	---	---	---	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290465	132290465	+	Missense_Mutation	SNP	G	G	T	rs149945224		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:132290465G>T	ENST00000295171.6	+	6	1043	c.905G>T	c.(904-906)gGg>gTg	p.G302V	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.G236V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	302			G -> R (in dbSNP:rs13660).					p.G302V(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTCCTGGAAGGGAGCCAGAGG	0.692													11	110	---	---	---	---	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190233	209190233	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:209190233G>T	ENST00000264380.4	+	20	2856	c.2698G>T	c.(2698-2700)Ggg>Tgg	p.G900W		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	900					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGGCATGAGGGGGCTGTCCA	0.498													4	183	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126337635	126337635	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr4:126337635C>G	ENST00000394329.3	+	6	6889	c.6876C>G	c.(6874-6876)aaC>aaG	p.N2292K	FAT4_ENST00000335110.5_Missense_Mutation_p.N590K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2292	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N2292K(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGGATCTAACAGCAAACTCT	0.413													118	391	---	---	---	---	0	0
FGG	2266	broad.mit.edu	37	4	155532986	155532986	+	Silent	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr4:155532986T>C	ENST00000404648.3	-	4	611	c.372A>G	c.(370-372)gcA>gcG	p.A124A	FGG_ENST00000336098.3_Silent_p.A124A|FGG_ENST00000407946.1_Silent_p.A124A|FGG_ENST00000405164.1_Silent_p.A124A	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	124					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.A124A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTAAAATCGATGCTTCATATT	0.299													28	66	---	---	---	---	0	0
KLHL3	26249	broad.mit.edu	37	5	136963996	136963996	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:136963996C>T	ENST00000508657.1	-	13	2199	c.1485G>A	c.(1483-1485)cgG>cgA	p.R495R	KLHL3_ENST00000506491.1_Silent_p.R445R|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000309755.4_Silent_p.R527R|KLHL3_ENST00000506873.1_5'UTR	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	527						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CTGCGTTGCGCCGGCACATGT	0.537													23	219	---	---	---	---	0	0
PCDHA3	0	broad.mit.edu	37	5	140183011	140183011	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140183011C>T	ENST00000522353.2	+	1	2229	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1												p.S743S(4)|p.S743R(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.637													5	288	---	---	---	---	0	0
PCDHA7	0	broad.mit.edu	37	5	140215137	140215137	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140215137C>T	ENST00000525929.1	+	1	1169	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T390M|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1												p.T390M(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCCTGACGCCCCGCGTT	0.542													6	293	---	---	---	---	0	0
PCDHA13	0	broad.mit.edu	37	5	140263465	140263465	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140263465C>T	ENST00000289272.2	+	1	1612	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA13_ENST00000409494.1_Missense_Mutation_p.R538C|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.R538C(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGACTCTGG	0.682													5	167	---	---	---	---	0	0
TYW1	55253	broad.mit.edu	37	7	66548462	66548462	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr7:66548462C>A	ENST00000359626.5	+	11	1484	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	440					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.D440E(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GGAAGATGGACCAGCCTGAAA	0.443													5	151	---	---	---	---	0	0
LOXL2	4017	broad.mit.edu	37	8	23191091	23191091	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr8:23191091C>T	ENST00000389131.3	-	5	1158	c.789G>A	c.(787-789)atG>atA	p.M263I		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	263	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.M263I(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGGTGCAGTCCATGGAGAATG	0.612													24	61	---	---	---	---	0	0
EXTL3	2137	broad.mit.edu	37	8	28575417	28575417	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr8:28575417T>C	ENST00000220562.4	+	3	2743	c.1841T>C	c.(1840-1842)tTc>tCc	p.F614S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.F230S	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	614						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.F614S(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTCCATCTTTTCCCCCACACT	0.577													18	192	---	---	---	---	0	0
SETX	23064	broad.mit.edu	37	9	135205329	135205329	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:135205329C>A	ENST00000372169.2	-	10	1838	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H	SETX_ENST00000224140.5_Missense_Mutation_p.Q552H|SETX_ENST00000393220.1_Missense_Mutation_p.Q552H			Q7Z333	SETX_HUMAN	senataxin	552					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGCAAAGAGACTGCTGCCCAA	0.423													4	203	---	---	---	---	0	0
ANKRD26	22852	broad.mit.edu	37	10	27329050	27329050	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:27329050T>C	ENST00000376087.4	-	21	2384	c.2219A>G	c.(2218-2220)gAa>gGa	p.E740G	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	739						centrosome		p.E740G(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTTTTAAGTTCTAATAATCT	0.294													7	102	---	---	---	---	0	0
PRG3	10394	broad.mit.edu	37	11	57147239	57147239	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:57147239C>T	ENST00000287143.2	-	3	212	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	35					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	p.D35N(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCCTAGGTCTGCCTGTGTC	0.557													45	115	---	---	---	---	0	0
SIDT2	51092	broad.mit.edu	37	11	117066583	117066583	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:117066583C>T	ENST00000324225.4	+	25	2919	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	SIDT2_ENST00000431081.2_Silent_p.H793H|SIDT2_ENST00000532062.1_Silent_p.H88H	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	796						integral to membrane|lysosomal membrane		p.H796H(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTGACGACCACGACATCTGGC	0.602													6	466	---	---	---	---	0	0
LRIG3	121227	broad.mit.edu	37	12	59271482	59271482	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr12:59271482C>A	ENST00000320743.3	-	15	2522	c.2236G>T	c.(2236-2238)Gca>Tca	p.A746S	LRIG3_ENST00000379141.4_Missense_Mutation_p.A686S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	746	Ig-like C2-type 3.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTGCCTGCTGCAAAAAAGTGC	0.488			T	ROS1	NSCLC								4	222	---	---	---	---	0	0
CMA1	1215	broad.mit.edu	37	14	24976626	24976626	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:24976626T>C	ENST00000250378.3	-	2	174	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	49	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.K49E(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCACAAAATTTTGAGGGACCG	0.502													94	274	---	---	---	---	0	0
PTPN21	11099	broad.mit.edu	37	14	88983485	88983485	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:88983485C>T	ENST00000556564.1	-	3	585	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.V101M	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	101	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	p.V101M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAAAACACCACTCCAAAATAG	0.413													45	117	---	---	---	---	0	0
FBN1	2200	broad.mit.edu	37	15	48788323	48788323	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr15:48788323T>C	ENST00000316623.5	-	20	2848	c.2393A>G	c.(2392-2394)tAc>tGc	p.Y798C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	798	EGF-like 12; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.Y798C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATCAGGTTTGTAGATAAATCC	0.353													41	110	---	---	---	---	0	0
PDE8A	5151	broad.mit.edu	37	15	85669469	85669469	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr15:85669469C>A	ENST00000310298.4	+	21	2369	c.2117C>A	c.(2116-2118)aCt>aAt	p.T706N	PDE8A_ENST00000557957.1_Missense_Mutation_p.T634N|PDE8A_ENST00000339708.5_Missense_Mutation_p.T660N|PDE8A_ENST00000394553.1_Missense_Mutation_p.T706N			O60658	PDE8A_HUMAN	phosphodiesterase 8A	706	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.T706N(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GTGATAAACACTATGCTTAGG	0.458													3	135	---	---	---	---	0	0
DNM1P46	0	broad.mit.edu	37	15	100332853	100332853	+	RNA	SNP	T	T	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr15:100332853T>G	ENST00000341853.1	-	0	1338					NR_003260.1													p.T127T(1)									TCCCGGCCACTGCCCTGAAGC	0.607													6	100	---	---	---	---	0	0
ZNF423	23090	broad.mit.edu	37	16	49672120	49672120	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr16:49672120G>T	ENST00000561648.1	-	4	996	c.943C>A	c.(943-945)Cac>Aac	p.H315N	ZNF423_ENST00000567169.1_Missense_Mutation_p.H198N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H255N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H198N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H315N|ZNF423_ENST00000562520.1_Missense_Mutation_p.H255N|ZNF423_ENST00000563137.2_Missense_Mutation_p.H255N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	315					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.H315N(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGGCTTGGTGGATATGGGCG	0.622													4	112	---	---	---	---	0	0
SMG6	23293	broad.mit.edu	37	17	2076132	2076132	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr17:2076132C>T	ENST00000544865.1	-	13	3594	c.3084G>A	c.(3082-3084)tcG>tcA	p.S1028S	SMG6_ENST00000354901.4_Silent_p.S151S|SMG6_ENST00000263073.6_Silent_p.S1059S|SMG6_ENST00000536871.2_Silent_p.S151S			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1059					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	p.S1059S(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGCCAGCGTCGACCATACAT	0.453													13	61	---	---	---	---	0	0
GSDMB	55876	broad.mit.edu	37	17	38062140	38062140	+	Silent	SNP	C	C	T	rs144949338		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr17:38062140C>T	ENST00000394175.2	-	6	1144	c.921G>A	c.(919-921)gcG>gcA	p.A307A	GSDMB_ENST00000360317.3_Silent_p.A329A|GSDMB_ENST00000394179.1_Silent_p.A324A|GSDMB_ENST00000520542.1_Silent_p.A320A|GSDMB_ENST00000309481.7_Silent_p.A316A|GSDMB_ENST00000418519.1_Silent_p.A329A	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	324						cytoplasm		p.A307A(1)|p.A329A(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTTTTGCACGCGCTTCTACCA	0.567													80	191	---	---	---	---	0	0
ZNF521	25925	broad.mit.edu	37	18	22804629	22804629	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr18:22804629T>C	ENST00000361524.3	-	4	3401	c.3253A>G	c.(3253-3255)Atc>Gtc	p.I1085V	ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085V|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1085					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.I1085V(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGGCCATTGATATCAAGTTTC	0.532			T	PAX5	ALL								7	120	---	---	---	---	0	0
MLLT1	4298	broad.mit.edu	37	19	6216424	6216424	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:6216424C>T	ENST00000252674.7	-	8	1462	c.1299G>A	c.(1297-1299)agG>agA	p.R433R	MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	433					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	p.R433R(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGGAGTCCCTCCCCGGGT	0.711			T	MLL	AL								3	15	---	---	---	---	0	0
OR10H2	26538	broad.mit.edu	37	19	15839017	15839017	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:15839017T>C	ENST00000305899.3	+	1	184	c.164T>C	c.(163-165)cTc>cCc	p.L55P		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GAGCGCAGCCTCCACACGCCC	0.612													4	196	---	---	---	---	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369868	20369868	+	RNA	SNP	G	G	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:20369868G>C	ENST00000593655.1	-	0	199																											TGTTGAAGGAGTTGGTGTTGC	0.408													6	93	---	---	---	---	0	0
KCNK6	9424	broad.mit.edu	37	19	38810914	38810914	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:38810914T>C	ENST00000263372.3	+	1	429		c.e1+2		KCNK6_ENST00000588137.1_Splice_Site	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6							voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCACCGTGGGTACGTAAGCGC	0.647													3	50	---	---	---	---	0	0
GRIK5	2901	broad.mit.edu	37	19	42569514	42569514	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:42569514C>T	ENST00000262895.3	-	2	104	c.105G>A	c.(103-105)gtG>gtA	p.V35V	GRIK5_ENST00000301218.4_Silent_p.V35V|GRIK5_ENST00000593562.1_Silent_p.V35V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	35						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.V35V(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGCGGCCACACACTGTCTGAT	0.607													4	84	---	---	---	---	0	0
SH3BP1	23616	broad.mit.edu	37	22	38039665	38039665	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr22:38039665C>A	ENST00000599616.1	+	5	296	c.296C>A	c.(295-297)aCc>aAc	p.T99N	SH3BP1_ENST00000336738.5_Missense_Mutation_p.T163N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.T163N|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.T163N			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	163	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	p.T163N(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGTCAGGCAACCAAGAATTCA	0.587											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78	---	---	---	---	0	0
PRDM16	63976	broad.mit.edu	37	1	3328642	3328642	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:3328642C>T	ENST00000378398.3	+	10	1966	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	PRDM16_ENST00000378391.2_Silent_p.S627S|PRDM16_ENST00000442529.2_Silent_p.S627S|PRDM16_ENST00000511072.1_Silent_p.S628S|PRDM16_ENST00000514189.1_Silent_p.S628S|PRDM16_ENST00000441472.2_Silent_p.S627S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Silent_p.S627S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	627					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCTGGACAGCGACGTGGACA	0.687			T	EVI1	"""MDS, AML"""								36	113	---	---	---	---	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46105995	46105995	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:46105995A>T	ENST00000355105.3	-	8	1991	c.631T>A	c.(631-633)Tct>Act	p.S211T	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S211T	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AATGCAGCAGAGAAGGCAGCA	0.473													24	238	---	---	---	---	0	0
C1orf146	388649	broad.mit.edu	37	1	92709886	92709886	+	Silent	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:92709886G>A	ENST00000370373.2	+	5	560	c.96G>A	c.(94-96)ttG>ttA	p.L32L	C1orf146_ENST00000370375.3_Silent_p.L91L			Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	91										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTTTGGTTTTGTCTGCTGCCC	0.328													10	25	---	---	---	---	0	0
PRMT6	55170	broad.mit.edu	37	1	107600027	107600027	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:107600027C>T	ENST00000361318.5	+	1	761	c.513C>T	c.(511-513)ctC>ctT	p.L171L	PRMT6_ENST00000370078.1_Silent_p.L230L	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	230					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CGCGCTGTCTCATGGGCCACT	0.657													35	77	---	---	---	---	0	0
HFE2	148738	broad.mit.edu	37	1	145415767	145415767	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:145415767A>C	ENST00000336751.5	+	3	824	c.586A>C	c.(586-588)Aat>Cat	p.N196H	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	196					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTACTGGATAATGACTTCCT	0.587													45	125	---	---	---	---	0	0
ETV3	2117	broad.mit.edu	37	1	157105282	157105282	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:157105282T>A	ENST00000368192.4	-	3	329	c.265A>T	c.(265-267)Aag>Tag	p.K89*	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Nonsense_Mutation_p.K89*	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	89							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CGGCTCAGCTTGTCATAATTC	0.498													22	39	---	---	---	---	0	0
TACR1	6869	broad.mit.edu	37	2	75347894	75347894	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:75347894C>G	ENST00000305249.5	-	2	1155	c.390G>C	c.(388-390)agG>agC	p.R130S	TACR1_ENST00000409848.3_Splice_Site_p.R130S	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGGCCATGTACCTGGAACAGA	0.483													22	38	---	---	---	---	0	0
KANSL1L	151050	broad.mit.edu	37	2	210993896	210993896	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:210993896A>G	ENST00000281772.9	-	3	1352	c.1089T>C	c.(1087-1089)gtT>gtC	p.V363V	KANSL1L_ENST00000457374.1_Splice_Site_p.V363V|KANSL1L_ENST00000418791.1_Splice_Site_p.V363V|KANSL1L_ENST00000452086.1_Splice_Site_p.V363V	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	363																	TACTACAGTTACTGTGAACAA	0.403													30	85	---	---	---	---	0	0
CCDC108	255101	broad.mit.edu	37	2	219900337	219900337	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:219900337C>G	ENST00000341552.5	-	5	490	c.407G>C	c.(406-408)aGa>aCa	p.R136T	CCDC108_ENST00000453220.1_Missense_Mutation_p.R136T|CCDC108_ENST00000441968.1_Missense_Mutation_p.R136T|CCDC108_ENST00000409865.3_Missense_Mutation_p.R125T|CCDC108_ENST00000410037.1_Missense_Mutation_p.R71T|CCDC108_ENST00000295729.2_Missense_Mutation_p.R71T|CCDC108_ENST00000324264.6_Missense_Mutation_p.R71T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	136						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTTCACTCTCTCCTGCTT	0.547													42	106	---	---	---	---	0	0
SLC4A7	9497	broad.mit.edu	37	3	27459989	27459989	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr3:27459989A>C	ENST00000295736.5	-	11	1690	c.1620T>G	c.(1618-1620)agT>agG	p.S540R	SLC4A7_ENST00000440156.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S549R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S425R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S90R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S532R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S416R|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S532R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S421R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	540						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GAGAAGGGACACTTTTTGGTG	0.353													8	32	---	---	---	---	0	0
LPHN3	23284	broad.mit.edu	37	4	62599226	62599226	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:62599226C>T	ENST00000512091.2	+	7	1896	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	LPHN3_ENST00000506746.1_Silent_p.H451H|LPHN3_ENST00000507164.1_Silent_p.H451H|LPHN3_ENST00000508693.1_Silent_p.H451H|LPHN3_ENST00000514996.1_Silent_p.H383H|LPHN3_ENST00000509896.1_Silent_p.H451H|LPHN3_ENST00000506700.1_Silent_p.H383H|LPHN3_ENST00000545650.1_Silent_p.H383H|LPHN3_ENST00000514157.1_Silent_p.H383H|LPHN3_ENST00000508946.1_Silent_p.H383H|LPHN3_ENST00000507625.1_Silent_p.H451H|LPHN3_ENST00000514591.1_Silent_p.H383H|LPHN3_ENST00000506720.1_Silent_p.H451H|LPHN3_ENST00000504896.1_Silent_p.H383H|LPHN3_ENST00000511324.1_Silent_p.H451H			Q9HAR2	LPHN3_HUMAN	latrophilin 3		Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACTATCACGTCGTGAAAT	0.388													10	32	---	---	---	---	0	0
PCDH18	54510	broad.mit.edu	37	4	138451634	138451634	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:138451634C>A	ENST00000344876.4	-	1	1995	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*	PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E537*|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.E317*|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	537	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGACTCACTTCTTCATGATCA	0.418													48	132	---	---	---	---	0	0
KLHL2	11275	broad.mit.edu	37	4	166234520	166234520	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:166234520T>C	ENST00000226725.6	+	12	1727		c.e12+2		KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTGGAGCAGGTACATGTGAAC	0.383													16	50	---	---	---	---	0	0
FRG1	2483	broad.mit.edu	37	4	190862186	190862186	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:190862186A>T	ENST00000226798.4	+	1	244	c.22A>T	c.(22-24)Aag>Tag	p.K8*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	8	Lys-rich.				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTCCTACGTGAAGTCTACCAA	0.637											OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24	---	---	---	---	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097209	110097209	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:110097209C>T	ENST00000355943.3	+	8	1110	c.984C>T	c.(982-984)gaC>gaT	p.D328D	SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509442.2_Silent_p.D237D|SLC25A46_ENST00000509432.1_Silent_p.D115D|SLC25A46_ENST00000504098.1_Silent_p.D182D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000447245.2_Silent_p.D247D	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	328					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTGTTCTGACGTTATACTTT	0.428													17	340	---	---	---	---	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148747557	148747557	+	Splice_Site	SNP	G	G	A	rs34811631		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:148747557G>A	ENST00000514349.1	+	5	1134	c.555G>A	c.(553-555)gaG>gaA	p.E185E	PCYOX1L_ENST00000274569.4_Splice_Site_p.E275E			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	275					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTCCAGAGGGGAAAGCCC	0.532											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	101	---	---	---	---	0	0
TIMD4	91937	broad.mit.edu	37	5	156378526	156378526	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:156378526C>A	ENST00000274532.2	-	3	732	c.676G>T	c.(676-678)Gca>Tca	p.A226S	TIMD4_ENST00000407087.3_Missense_Mutation_p.A226S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	226						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCGTACCTGCAGTGAGGATG	0.532													5	73	---	---	---	---	0	0
FILIP1	27145	broad.mit.edu	37	6	76022647	76022647	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:76022647A>C	ENST00000393004.2	-	5	3122	c.2901T>G	c.(2899-2901)agT>agG	p.S967R	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S868R|FILIP1_ENST00000237172.7_Missense_Mutation_p.S967R			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	967										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAGTATCTCCACTTTTTTGTT	0.413													40	94	---	---	---	---	0	0
ASCC3	10973	broad.mit.edu	37	6	101098516	101098516	+	Silent	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:101098516T>C	ENST00000369162.2	-	20	3494	c.3150A>G	c.(3148-3150)gtA>gtG	p.V1050V		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1050	SEC63 1.		V -> I (in dbSNP:rs9497983).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AACTATTCTCTACACCTCCAG	0.363													28	40	---	---	---	---	0	0
LRGUK	136332	broad.mit.edu	37	7	133827909	133827909	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr7:133827909C>A	ENST00000285928.2	+	4	651	c.582C>A	c.(580-582)aaC>aaA	p.N194K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	194							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CACCCAAAAACCTCAAGGTAG	0.338													5	103	---	---	---	---	0	0
SPAG1	6674	broad.mit.edu	37	8	101206436	101206436	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:101206436A>T	ENST00000388798.2	+	10	1227	c.1036A>T	c.(1036-1038)Aac>Tac	p.N346Y	SPAG1_ENST00000520508.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000251809.3_Missense_Mutation_p.N346Y|SPAG1_ENST00000520643.1_Missense_Mutation_p.N346Y	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	346					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGAAATAGAAAACTCCGAAGA	0.373													9	20	---	---	---	---	0	0
SCUBE2	57758	broad.mit.edu	37	11	9069059	9069059	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:9069059T>C	ENST00000457346.2	-	16	1920	c.1846A>G	c.(1846-1848)Aaa>Gaa	p.K616E	SCUBE2_ENST00000309263.3_Missense_Mutation_p.K587E|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.K616E|SCUBE2_ENST00000450649.2_Missense_Mutation_p.K461E			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	587						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CGGATGGCTTTACGGAGCCGC	0.567													15	62	---	---	---	---	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077545	19077545	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:19077545G>C	ENST00000329773.2	-	2	492	c.405C>G	c.(403-405)atC>atG	p.I135M		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	135					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCGATACCAGATGGGCCACA	0.617													7	108	---	---	---	---	0	0
DGKZ	8525	broad.mit.edu	37	11	46396525	46396525	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:46396525A>G	ENST00000454345.1	+	20	2329	c.2204A>G	c.(2203-2205)cAc>cGc	p.H735R	DGKZ_ENST00000528615.1_Missense_Mutation_p.H325R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.H551R|DGKZ_ENST00000456247.2_Missense_Mutation_p.H546R|DGKZ_ENST00000421244.2_Missense_Mutation_p.H547R|DGKZ_ENST00000527911.1_Missense_Mutation_p.H547R|DGKZ_ENST00000343674.6_Missense_Mutation_p.H563R|DGKZ_ENST00000395574.3_Missense_Mutation_p.H513R|DGKZ_ENST00000318201.8_Missense_Mutation_p.H524R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	735					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCTGGGGAGCACCACGACTTT	0.637													9	31	---	---	---	---	0	0
SIPA1	6494	broad.mit.edu	37	11	65410052	65410052	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:65410052G>A	ENST00000394224.3	+	4	1222	c.926G>A	c.(925-927)cGc>cAc	p.R309H	SIPA1_ENST00000394227.3_Missense_Mutation_p.R309H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R309H|SIPA1_ENST00000534313.1_Missense_Mutation_p.R309H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	309					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGCTGCCTGCGCCTGGGCTCA	0.697													4	17	---	---	---	---	0	0
PTPRO	5800	broad.mit.edu	37	12	15710429	15710429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr12:15710429G>T	ENST00000281171.4	+	16	2929	c.2599G>T	c.(2599-2601)Gag>Tag	p.E867*	PTPRO_ENST00000442921.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000544244.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000445537.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E867*|PTPRO_ENST00000542557.1_Nonsense_Mutation_p.E56*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	867						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGCATCCTTAGAGAGGGATGG	0.398													21	49	---	---	---	---	0	0
ALOX5AP	241	broad.mit.edu	37	13	31318197	31318197	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:31318197G>T	ENST00000380490.3	+	2	169	c.71G>T	c.(70-72)gGa>gTa	p.G24V	ALOX5AP_ENST00000479597.1_3'UTR	NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	24	Inhibitor binding.				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		CCCTTGGCAGGATTCTTTGCC	0.493													3	29	---	---	---	---	0	0
LACC1	144811	broad.mit.edu	37	13	44464253	44464253	+	Silent	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:44464253T>C	ENST00000441843.1	+	6	1622	c.1137T>C	c.(1135-1137)atT>atC	p.I379I	LACC1_ENST00000325686.6_Silent_p.I379I	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	379																	TCCTAAGGATTCTTCTAGAAC	0.373													6	65	---	---	---	---	0	0
EZH1	2145	broad.mit.edu	37	17	40865284	40865284	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:40865284T>C	ENST00000428826.2	-	11	1268	c.1147A>G	c.(1147-1149)Act>Gct	p.T383A	EZH1_ENST00000590078.1_Missense_Mutation_p.T313A|EZH1_ENST00000415827.2_Missense_Mutation_p.T374A|EZH1_ENST00000435174.1_Missense_Mutation_p.T244A|EZH1_ENST00000585893.1_Missense_Mutation_p.T343A|EZH1_ENST00000592743.1_Missense_Mutation_p.T383A			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	383					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCTTCTTTAGTCTCAGCCACA	0.537													40	68	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			51	126	---	---	---	---	0	0
TCF4	6925	broad.mit.edu	37	18	52901781	52901781	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr18:52901781C>T	ENST00000354452.3	-	16	2095	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000537578.1_Missense_Mutation_p.R471K|TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K|TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000398339.1_Missense_Mutation_p.R597K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K|TCF4_ENST00000356073.4_Missense_Mutation_p.R495K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	495					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAACCTACCTCTGTAAGGGTC	0.557											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	77	---	---	---	---	0	0
ZNF230	7773	broad.mit.edu	37	19	44515531	44515531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:44515531C>A	ENST00000429154.2	+	5	1568	c.1340C>A	c.(1339-1341)tCa>tAa	p.S447*		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAGAAAACTCATCCAAATGT	0.388													4	75	---	---	---	---	0	0
TIAM1	7074	broad.mit.edu	37	21	32617835	32617835	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr21:32617835C>A	ENST00000286827.3	-	7	2024	c.1553G>T	c.(1552-1554)aGc>aTc	p.S518I	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.S518I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	518	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAGGGAATTGCTGAGGCAGAA	0.522													4	56	---	---	---	---	0	0
DEPDC5	9681	broad.mit.edu	37	22	32270272	32270272	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr22:32270272C>A	ENST00000400246.1	+	36	3719	c.3577C>A	c.(3577-3579)Ctg>Atg	p.L1193M	DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M|DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.L1184M|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L1162M			O75140	DEPD5_HUMAN	DEP domain containing 5	1162	DEP.				intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGAGTCCAGCTGCTCTCTGA	0.572													3	19	---	---	---	---	0	0
PMM1	5372	broad.mit.edu	37	22	41980560	41980560	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr22:41980560A>C	ENST00000216259.7	-	3	337	c.253T>G	c.(253-255)Tat>Gat	p.Y85D	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	85					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCGTGCTTATACTGCACCGTC	0.542													4	91	---	---	---	---	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039436	153039436	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chrX:153039436C>T	ENST00000538966.1	+	21	3742	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	PLXNB3_ENST00000538282.1_Silent_p.A744A|PLXNB3_ENST00000538776.1_Silent_p.A787A|PLXNB3_ENST00000361971.5_Silent_p.A1134A	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1134					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGACTTCGCCAGTGCCAGTG	0.692													28	24	---	---	---	---	0	0
MEGF6	1953	broad.mit.edu	37	1	3519044	3519044	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:3519044C>A	ENST00000356575.4	-	2	478	c.252G>T	c.(250-252)gtG>gtT	p.V84V		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	84	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCTCATGACCCACGCACCACG	0.697													5	42	---	---	---	---	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835281	12835281	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:12835281C>A	ENST00000357726.4	+	1	298	c.271C>A	c.(271-273)Cag>Aag	p.Q91K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	91										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCTTGCCCAGAAGGTTCG	0.597													5	105	---	---	---	---	0	0
ACOT11	26027	broad.mit.edu	37	1	55069594	55069594	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:55069594G>T	ENST00000371316.3	+	11	1218	c.1136G>T	c.(1135-1137)tGg>tTg	p.W379L	ACOT11_ENST00000343744.2_Missense_Mutation_p.W379L|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	379	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TCCGTCCCCTGGGACCCTAGC	0.582													6	90	---	---	---	---	0	0
C1orf177	163747	broad.mit.edu	37	1	55280671	55280671	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:55280671G>T	ENST00000358193.3	+	8	1063	c.1009G>T	c.(1009-1011)Ggg>Tgg	p.G337W	C1orf177_ENST00000371273.3_Missense_Mutation_p.G337W	NM_152607.2	NP_689820	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	337										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GACCTCCAAGGGGTCAGGTGC	0.552													7	186	---	---	---	---	0	0
SYDE2	84144	broad.mit.edu	37	1	85666010	85666010	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:85666010G>T	ENST00000341460.5	-	1	719	c.670C>A	c.(670-672)Cca>Aca	p.P224T		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	224					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CCCACATTTGGGGAGGCTGCC	0.557													6	133	---	---	---	---	0	0
CLCA2	9635	broad.mit.edu	37	1	86900283	86900283	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:86900283G>T	ENST00000370565.4	+	6	989	c.827G>T	c.(826-828)tGg>tTg	p.W276L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	276					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGAAGTGCATGGGATGTAATC	0.478													5	138	---	---	---	---	0	0
HFM1	164045	broad.mit.edu	37	1	91851252	91851252	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:91851252T>C	ENST00000370425.3	-	5	732	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	212							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TACTGAAATTTTTGCTTACTA	0.343													7	43	---	---	---	---	0	0
GLMN	11146	broad.mit.edu	37	1	92729219	92729219	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:92729219G>T	ENST00000370360.3	-	15	1451	c.1370C>A	c.(1369-1371)cCa>cAa	p.P457Q	GLMN_ENST00000534881.1_Missense_Mutation_p.P443Q	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	457					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TGCACCCTCTGGGAGAAAAAG	0.373									Multiple Glomus Tumors (of the Skin), Familial				5	148	---	---	---	---	0	0
FLG2	388698	broad.mit.edu	37	1	152328017	152328017	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:152328017C>A	ENST00000388718.5	-	3	2317	c.2245G>T	c.(2245-2247)Ggg>Tgg	p.G749W	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	749	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACCCATGTTGTCCA	0.507													8	413	---	---	---	---	0	0
INTS3	65123	broad.mit.edu	37	1	153744959	153744959	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:153744959C>A	ENST00000456435.1	+	27	3432	c.2246C>A	c.(2245-2247)cCt>cAt	p.P749H	INTS3_ENST00000476843.1_Intron|INTS3_ENST00000318967.2_Intron|INTS3_ENST00000435409.2_Intron|INTS3_ENST00000512605.1_Missense_Mutation_p.P749H			Q68E01	INT3_HUMAN	integrator complex subunit 3	0					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGGTGCTGCCCTGGCCCAGAC	0.597													4	29	---	---	---	---	0	0
COPA	1314	broad.mit.edu	37	1	160275314	160275314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:160275314C>A	ENST00000241704.7	-	17	1805	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	COPA_ENST00000368069.3_Nonsense_Mutation_p.E535*	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	526					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGAATGTTCTCATGAATGTTA	0.448													6	93	---	---	---	---	0	0
F13B	2165	broad.mit.edu	37	1	197009754	197009754	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:197009754C>A	ENST00000367412.1	-	11	1893	c.1850G>T	c.(1849-1851)aGa>aTa	p.R617I	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	617	Sushi 10.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGTATCTCCTCTACAAATAAA	0.308													5	55	---	---	---	---	0	0
CD46	4179	broad.mit.edu	37	1	207940420	207940420	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:207940420T>A	ENST00000358170.2	+	6	892	c.736T>A	c.(736-738)Ttt>Att	p.F246I	CD46_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	246	Sushi 4.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGGAAAAAAATTTTACTACAA	0.378													10	45	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228492955	228492955	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:228492955G>T	ENST00000570156.2	+	54	14472	c.14398G>T	c.(14398-14400)Ggg>Tgg	p.G4800W	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1477W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3843					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTCAGAGATGGGGACAGATA	0.562													5	132	---	---	---	---	0	0
TTC31	64427	broad.mit.edu	37	2	74719548	74719548	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:74719548G>T	ENST00000233623.5	+	11	1144	c.1137G>T	c.(1135-1137)ctG>ctT	p.L379L	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	379							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TCTTCCGCCTGGGCAAGGCCT	0.617													5	92	---	---	---	---	0	0
FABP1	2168	broad.mit.edu	37	2	88425739	88425739	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:88425739C>A	ENST00000393750.3	-	2	227	c.196G>T	c.(196-198)Ggg>Tgg	p.G66W	FABP1_ENST00000295834.3_Missense_Mutation_p.G66W|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	66					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CATTCCTCCCCCACCGTGAAT	0.532													8	244	---	---	---	---	0	0
LONRF2	164832	broad.mit.edu	37	2	100916210	100916210	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:100916210G>C	ENST00000393437.3	-	5	1875	c.1236C>G	c.(1234-1236)gaC>gaG	p.D412E	LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	412					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGGCGTTCAGGTCAGGTGCAT	0.448													9	94	---	---	---	---	0	0
WDR33	55339	broad.mit.edu	37	2	128474753	128474753	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:128474753C>T	ENST00000322313.4	-	17	3003	c.2845G>A	c.(2845-2847)Gga>Aga	p.G949R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	949					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCCTTGTCCGGGGTTCAGA	0.478													3	19	---	---	---	---	0	0
DNAH7	56171	broad.mit.edu	37	2	196737068	196737068	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:196737068A>C	ENST00000312428.6	-	40	6639	c.6539T>G	c.(6538-6540)cTc>cGc	p.L2180R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2180	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAATCACGGAGGTTGAACAA	0.398													3	96	---	---	---	---	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882928	228882928	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:228882928G>T	ENST00000392056.3	-	7	2688	c.2642C>A	c.(2641-2643)cCa>cAa	p.P881Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P881Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	881						cytoplasm	protein binding	p.P881Q(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGGGTGTTTGGGTGGATACT	0.522													8	200	---	---	---	---	0	0
ANO7	50636	broad.mit.edu	37	2	242147077	242147077	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:242147077C>A	ENST00000274979.8	+	11	1334	c.1231C>A	c.(1231-1233)Ctg>Atg	p.L411M	ANO7_ENST00000402430.3_Missense_Mutation_p.L410M	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	411						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGCCTGTGCCCTGGCCCAGGT	0.617													5	110	---	---	---	---	0	0
SLC6A11	6538	broad.mit.edu	37	3	10976882	10976882	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:10976882C>A	ENST00000254488.2	+	13	1809	c.1743C>A	c.(1741-1743)ccC>ccA	p.P581P		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	581					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P581P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGACACTGCCCGAGGTGAGAC	0.652													5	121	---	---	---	---	0	0
OXSR1	9943	broad.mit.edu	37	3	38292947	38292947	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:38292947A>G	ENST00000311806.3	+	16	1801	c.1429A>G	c.(1429-1431)Agg>Ggg	p.R477G		NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	477					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGTCGACGGAAGGGATTTAGT	0.458													6	230	---	---	---	---	0	0
CYB561D2	11068	broad.mit.edu	37	3	50391102	50391102	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:50391102C>A	ENST00000418577.1	+	3	1172	c.596C>A	c.(595-597)cCt>cAt	p.P199H	CYB561D2_ENST00000232508.5_Missense_Mutation_p.P199H|CYB561D2_ENST00000424512.1_Missense_Mutation_p.P199H|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.P199H			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	199	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTATTATGCCCTGTCCTCACC	0.567													5	129	---	---	---	---	0	0
SIDT1	54847	broad.mit.edu	37	3	113338551	113338551	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:113338551G>T	ENST00000264852.4	+	21	2794	c.2068G>T	c.(2068-2070)Ggg>Tgg	p.G690W	SIDT1_ENST00000393830.3_Missense_Mutation_p.G695W|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	690						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GCTGGTTGTGGGGAATCTGGT	0.383													8	323	---	---	---	---	0	0
MYLK	4638	broad.mit.edu	37	3	123333147	123333147	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:123333147C>A	ENST00000360772.3	-	34	5775	c.5397G>T	c.(5395-5397)agG>agT	p.R1799S	MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.R650S|MYLK_ENST00000360304.3_Missense_Mutation_p.R1850S|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000418370.2_Missense_Mutation_p.R90S|MYLK_ENST00000359169.1_Missense_Mutation_p.R1799S|MYLK_ENST00000583087.1_Missense_Mutation_p.R90S|MYLK_ENST00000346322.5_Missense_Mutation_p.R1781S|MYLK_ENST00000475616.1_Missense_Mutation_p.R1850S|MYLK_ENST00000578202.1_Missense_Mutation_p.R89S			Q15746	MYLK_HUMAN	myosin light chain kinase	1850					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGCGGGACTCCCTGATTGACT	0.483													6	81	---	---	---	---	0	0
SLC12A8	84561	broad.mit.edu	37	3	124896676	124896676	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:124896676C>A	ENST00000423114.2	-	5	619	c.620G>T	c.(619-621)tGg>tTg	p.W207L	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.W178L|SLC12A8_ENST00000393469.4_Missense_Mutation_p.W178L			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	178					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GCGGATTATCCATTTGACACC	0.557													4	48	---	---	---	---	0	0
TF	7018	broad.mit.edu	37	3	133489392	133489392	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:133489392C>A	ENST00000402696.3	+	14	2148	c.1663C>A	c.(1663-1665)Cag>Aag	p.Q555K	TF_ENST00000264998.3_Missense_Mutation_p.Q428K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	555	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGTGAAACACCAGACTGTCCC	0.507													6	192	---	---	---	---	0	0
CP	1356	broad.mit.edu	37	3	148896263	148896263	+	Silent	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:148896263A>G	ENST00000264613.6	-	16	3079	c.2817T>C	c.(2815-2817)tcT>tcC	p.S939S		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	939	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CGGGGTGATCAGAGTATGTTT	0.323													6	94	---	---	---	---	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186790707	186790707	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:186790707C>A	ENST00000169298.3	+	6	1450	c.776C>A	c.(775-777)cCa>cAa	p.P259Q	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.P28Q|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P259Q	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	259					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTATGGGACCCATCTGTATAC	0.443													5	116	---	---	---	---	0	0
TNK2	10188	broad.mit.edu	37	3	195594757	195594757	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:195594757C>A	ENST00000333602.6	-	12	2984	c.2367G>T	c.(2365-2367)tcG>tcT	p.S789S	TNK2_ENST00000381916.2_Silent_p.S867S|TNK2_ENST00000428187.1_Silent_p.S821S|TNK2_ENST00000392400.1_Silent_p.S789S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	789	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGGGTGTCCTCGAGCCTTGAG	0.706													4	46	---	---	---	---	0	0
TADA2B	93624	broad.mit.edu	37	4	7056217	7056217	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:7056217G>T	ENST00000310074.7	+	2	888	c.699G>T	c.(697-699)ctG>ctT	p.L233L	TADA2B_ENST00000512388.1_Silent_p.L158L|TADA2B_ENST00000515646.1_Silent_p.L141L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CAGCCTTCCTGGGGAAGGACA	0.577													5	99	---	---	---	---	0	0
SORCS2	57537	broad.mit.edu	37	4	7684513	7684513	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:7684513A>T	ENST00000507866.2	+	10	1494	c.1385A>T	c.(1384-1386)gAt>gTt	p.D462V	SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	462						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CAAAAAATTGATGGGAAAGTG	0.468													7	25	---	---	---	---	0	0
SH3TC1	54436	broad.mit.edu	37	4	8221138	8221138	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:8221138C>A	ENST00000539824.1	+	9	1139	c.765C>A	c.(763-765)ctC>ctA	p.L255L	SH3TC1_ENST00000245105.3_Silent_p.L331L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	331							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GTGGCGACCTCATCGAGATCC	0.672													5	76	---	---	---	---	0	0
N4BP2	55728	broad.mit.edu	37	4	40119567	40119567	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:40119567A>G	ENST00000261435.6	+	8	2159	c.1743A>G	c.(1741-1743)atA>atG	p.I581M		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	581						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAGTGCCAATAATTATGAGTT	0.358													17	51	---	---	---	---	0	0
ATP10D	57205	broad.mit.edu	37	4	47538468	47538468	+	Missense_Mutation	SNP	C	C	A	rs139274170	by1000genomes	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:47538468C>A	ENST00000273859.3	+	8	1299	c.1030C>A	c.(1030-1032)Ctg>Atg	p.L344M	ATP10D_ENST00000504445.1_Missense_Mutation_p.L344M	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	344					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGGAATCTGGCTGAGCAGGTA	0.363													7	198	---	---	---	---	0	0
KDR	3791	broad.mit.edu	37	4	55961098	55961098	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:55961098C>A	ENST00000263923.4	-	21	3137	c.2842G>T	c.(2842-2844)Ggg>Tgg	p.G948W		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	948	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TAGTCTTTCCCTTGACGGAAT	0.438			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			6	86	---	---	---	---	0	0
PKD2	5311	broad.mit.edu	37	4	88957413	88957413	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:88957413C>A	ENST00000237596.2	+	3	817	c.751C>A	c.(751-753)Cgg>Agg	p.R251R		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	251						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	p.R251R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTACTACACCCGGATGATGTC	0.478													5	132	---	---	---	---	0	0
GRIA2	2891	broad.mit.edu	37	4	158254059	158254059	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:158254059G>T	ENST00000296526.7	+	7	1296	c.971G>T	c.(970-972)aGg>aTg	p.R324M	GRIA2_ENST00000507898.1_Missense_Mutation_p.R277M|GRIA2_ENST00000264426.9_Missense_Mutation_p.R324M|GRIA2_ENST00000449365.1_Missense_Mutation_p.R277M|GRIA2_ENST00000393815.2_Missense_Mutation_p.R277M	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	324					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATCTCCCGAAGGGGGAATGCA	0.483													5	77	---	---	---	---	0	0
DDX60L	91351	broad.mit.edu	37	4	169337892	169337892	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:169337892A>C	ENST00000511577.1	-	20	2914	c.2667T>G	c.(2665-2667)atT>atG	p.I889M	DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M|DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	889	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GACATCGAATAATGACAAGGA	0.358													15	84	---	---	---	---	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186169	5186169	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:5186169G>A	ENST00000274181.7	+	5	906	c.768G>A	c.(766-768)atG>atA	p.M256I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M256I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	256					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCATAGACATGCCCCAGCCTC	0.468													37	190	---	---	---	---	0	0
LIFR	3977	broad.mit.edu	37	5	38523567	38523567	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:38523567C>A	ENST00000263409.4	-	5	677	c.515G>T	c.(514-516)tGg>tTg	p.W172L	LIFR_ENST00000453190.2_Missense_Mutation_p.W172L|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	172					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTTAATTTCCCAGATAACATT	0.348			T	PLAG1	salivary adenoma								5	102	---	---	---	---	0	0
SNX18	112574	broad.mit.edu	37	5	53814500	53814500	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:53814500G>T	ENST00000343017.6	+	1	912	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	SNX18_ENST00000326277.3_Missense_Mutation_p.G240W|SNX18_ENST00000381410.4_Missense_Mutation_p.G240W	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	240					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CAAGTCCGGCGGGGAGGCCTT	0.701													5	112	---	---	---	---	0	0
CMYA5	202333	broad.mit.edu	37	5	79034560	79034560	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:79034560C>A	ENST00000446378.2	+	2	10003	c.9972C>A	c.(9970-9972)ccC>ccA	p.P3324P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3324						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAAGCTCCCATCACAGAGG	0.493													5	85	---	---	---	---	0	0
PCDHA5	0	broad.mit.edu	37	5	140201750	140201750	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:140201750C>A	ENST00000529859.1	+	1	390	c.390C>A	c.(388-390)ccC>ccA	p.P130P	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P130P|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P130P|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATCCGCCCAGGTTCTCCA	0.527													5	104	---	---	---	---	0	0
PCDHGA10	0	broad.mit.edu	37	5	140795088	140795088	+	Silent	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:140795088G>A	ENST00000398610.2	+	1	2346	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACACGCTCATCAGCC	0.507													18	122	---	---	---	---	0	0
FBXW11	23291	broad.mit.edu	37	5	171318481	171318481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:171318481T>C	ENST00000296933.6	-	6	1110	c.740A>G	c.(739-741)aAt>aGt	p.N247S	FBXW11_ENST00000265094.5_Missense_Mutation_p.N260S|FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	260					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTAATAGAATTATCTCGTAG	0.348													7	44	---	---	---	---	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178634552	178634552	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:178634552C>T	ENST00000251582.7	-	4	954	c.853G>A	c.(853-855)Gag>Aag	p.E285K	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E285K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	285	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGTACGTGCTCCTTCCCGTGG	0.637													9	128	---	---	---	---	0	0
FAM50B	26240	broad.mit.edu	37	6	3850540	3850540	+	Silent	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:3850540C>G	ENST00000380274.1	+	1	921	c.495C>G	c.(493-495)ctC>ctG	p.L165L	FAM50B_ENST00000380272.3_Silent_p.L165L			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	165						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGAACCGGCTCCGAGAGGAGC	0.687													6	47	---	---	---	---	0	0
E2F3	1871	broad.mit.edu	37	6	20486928	20486928	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:20486928A>G	ENST00000346618.3	+	5	959	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	298	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ACGTTAGCTTATGTTACATAT	0.333													7	44	---	---	---	---	0	0
BTN3A2	11118	broad.mit.edu	37	6	26368874	26368874	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:26368874C>A	ENST00000356386.2	+	4	355	c.167C>A	c.(166-168)cCg>cAg	p.P56Q	BTN3A2_ENST00000396948.1_Missense_Mutation_p.P56Q|BTN3A2_ENST00000396934.3_Missense_Mutation_p.P33Q|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000508906.2_Missense_Mutation_p.P14Q|BTN3A2_ENST00000377708.2_Missense_Mutation_p.P56Q|BTN3A2_ENST00000527422.1_Missense_Mutation_p.P56Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	56	Ig-like V-type.					integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CACCTGTTCCCGACCATGAGT	0.562													6	202	---	---	---	---	0	0
TNXB	7148	broad.mit.edu	37	6	32037543	32037543	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:32037543C>T	ENST00000375244.3	-	15	5575	c.5374G>A	c.(5374-5376)Gtg>Atg	p.V1792M	TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M			P22105	TENX_HUMAN	tenascin XB	1874	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGAGGCCCACGGAGTTCTGG	0.622													8	22	---	---	---	---	0	0
ABCC10	89845	broad.mit.edu	37	6	43415021	43415021	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:43415021C>A	ENST00000244533.3	+	15	3855	c.3496C>A	c.(3496-3498)Ctg>Atg	p.L1166M	ABCC10_ENST00000372530.4_Missense_Mutation_p.L1194M	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1194	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGCCCTGTCCCTGACGGGCCT	0.637													7	135	---	---	---	---	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151153132	151153132	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:151153132C>A	ENST00000367328.1	+	16	3197	c.2885C>A	c.(2884-2886)cCt>cAt	p.P962H	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P962H	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	962					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCAGAAAACCCTGACCTGGGG	0.488													8	218	---	---	---	---	0	0
FAM120B	84498	broad.mit.edu	37	6	170639605	170639605	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:170639605G>T	ENST00000476287.1	+	4	2092	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	FAM120B_ENST00000252510.9_5'UTR|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	662					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAGGCACCCGGACCTCGTCAG	0.483													9	83	---	---	---	---	0	0
FAM120B	84498	broad.mit.edu	37	6	170639606	170639606	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:170639606A>T	ENST00000476287.1	+	4	2093	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	FAM120B_ENST00000252510.9_5'UTR|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	662					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGCACCCGGACCTCGTCAGG	0.483													9	83	---	---	---	---	0	0
GPER1	2852	broad.mit.edu	37	7	1131448	1131448	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:1131448C>A	ENST00000397092.1	+	3	968	c.84C>A	c.(82-84)tcC>tcA	p.S28S	C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000401670.1_Silent_p.S28S|GPER1_ENST00000297469.3_Silent_p.S28S|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Silent_p.S28S|C7orf50_ENST00000397098.3_Intron	NM_001039966.1	NP_001035055.1			G protein-coupled estrogen receptor 1	28																	ACACCACCTCCCCCGAGCTCA	0.672													5	71	---	---	---	---	0	0
FOXK1	221937	broad.mit.edu	37	7	4796699	4796699	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:4796699G>T	ENST00000328914.4	+	5	1125	c.1125G>T	c.(1123-1125)aaG>aaT	p.K375N	FOXK1_ENST00000446823.1_Missense_Mutation_p.K212N	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	375					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGCCTGGGAAGGGGTCCTTTT	0.557													6	141	---	---	---	---	0	0
AIMP2	7965	broad.mit.edu	37	7	6054935	6054935	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:6054935C>A	ENST00000223029.3	+	2	413	c.294C>A	c.(292-294)ccC>ccA	p.P98P	AIMP2_ENST00000400479.2_Silent_p.P20P|AIMP2_ENST00000395236.2_Intron	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	98	Interaction with PARK2.		EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity).		apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGGATGAGCCCACGACTTTAA	0.458													5	97	---	---	---	---	0	0
C7orf31	136895	broad.mit.edu	37	7	25175953	25175953	+	Missense_Mutation	SNP	G	G	T	rs35154287	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:25175953G>T	ENST00000409280.1	-	10	1719	c.1411C>A	c.(1411-1413)Cta>Ata	p.L471I	C7orf31_ENST00000283905.3_Missense_Mutation_p.L471I			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	471										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGATCACGTAGGGGAGATTTA	0.383													7	283	---	---	---	---	0	0
BMPER	168667	broad.mit.edu	37	7	34009963	34009963	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:34009963G>T	ENST00000297161.2	+	6	799	c.425G>T	c.(424-426)gGg>gTg	p.G142V	BMPER_ENST00000426693.1_Missense_Mutation_p.G142V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	142	VWFC 2.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACAGAGTCTGGGGTGCGCTGT	0.493													6	153	---	---	---	---	0	0
ZNF789	285989	broad.mit.edu	37	7	99079801	99079801	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:99079801A>C	ENST00000379724.3	+	4	366	c.167A>C	c.(166-168)gAt>gCt	p.D56A	ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000483089.1_3'UTR|ZNF789_ENST00000331410.5_Intron|ZNF789_ENST00000493485.1_Intron	NM_001013258.1	NP_001013276.1	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ttccagtttgatgctgcaata	0.378													11	49	---	---	---	---	0	0
ZNF3	7551	broad.mit.edu	37	7	99669788	99669788	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:99669788T>C	ENST00000303915.6	-	5	1286	c.319A>G	c.(319-321)Aga>Gga	p.R107G	ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000424697.1_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	107	KRAB.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCATGTGATCTTGTGTCTTCA	0.403													16	81	---	---	---	---	0	0
ORAI2	80228	broad.mit.edu	37	7	102087367	102087367	+	Silent	SNP	C	C	T	rs144660402		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:102087367C>T	ENST00000356387.2	+	4	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_ENST00000478730.2_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	211						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667													6	36	---	---	---	---	0	0
PNPLA8	50640	broad.mit.edu	37	7	108142978	108142978	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:108142978C>A	ENST00000426128.2	-	4	1440	c.1315G>T	c.(1315-1317)Ggg>Tgg	p.G439W	PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000436062.1_Missense_Mutation_p.G439W|PNPLA8_ENST00000422087.1_Missense_Mutation_p.G439W|PNPLA8_ENST00000453144.1_Missense_Mutation_p.G339W|PNPLA8_ENST00000257694.8_Missense_Mutation_p.G439W|PNPLA8_ENST00000388728.5_Missense_Mutation_p.G439W	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	439					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATTCCTCTCCCTTTCACTGGA	0.358													5	100	---	---	---	---	0	0
AASS	10157	broad.mit.edu	37	7	121753227	121753227	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:121753227G>T	ENST00000393376.1	-	10	1318	c.1223C>A	c.(1222-1224)cCa>cAa	p.P408Q	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.P408Q			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	408	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCTTCAATTGGGAGCTGTGC	0.403													4	49	---	---	---	---	0	0
ZNF398	0	broad.mit.edu	37	7	148876421	148876421	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:148876421C>T	ENST00000420008.2	+	6	1732	c.944C>T	c.(943-945)cCt>cTt	p.P315L	ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000475153.1_Missense_Mutation_p.P486L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	486					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTCTCCTGCCCTCAGTGTGGC	0.612													12	61	---	---	---	---	0	0
AGAP3	116988	broad.mit.edu	37	7	150839292	150839292	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:150839292G>A	ENST00000397238.2	+	15	2002	c.2002G>A	c.(2002-2004)Gtc>Atc	p.V668I	AGAP3_ENST00000463381.1_Missense_Mutation_p.V337I	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	632	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGCAGGCCGTCCGCACCGT	0.622													42	202	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151879331	151879331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:151879331G>A	ENST00000355193.2	-	36	5832	c.5614C>T	c.(5614-5616)Cag>Tag	p.Q1872*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1872*					lysine (K)-specific methyltransferase 2C																		TGAGAAGTCTGAGCCTGAGAA	0.512													27	122	---	---	---	---	0	0
PSD3	23362	broad.mit.edu	37	8	18729462	18729462	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:18729462C>A	ENST00000440756.2	-	3	1014	c.912G>T	c.(910-912)gtG>gtT	p.V304V	PSD3_ENST00000327040.8_Silent_p.V304V|PSD3_ENST00000523619.1_Silent_p.V239V			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	304					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACAGTATTTCCACTCCTTGAA	0.522													5	127	---	---	---	---	0	0
MTDH	92140	broad.mit.edu	37	8	98701313	98701313	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:98701313G>T	ENST00000336273.3	+	5	1121	c.793G>T	c.(793-795)Gga>Tga	p.G265*	MTDH_ENST00000519934.1_Nonsense_Mutation_p.G242*	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	265					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ATCTGGAAAAGGAGATTCTAC	0.299													6	125	---	---	---	---	0	0
POP1	10940	broad.mit.edu	37	8	99146744	99146744	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:99146744G>T	ENST00000401707.2	+	7	949	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	POP1_ENST00000349693.3_Missense_Mutation_p.G290W	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	290					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAAGCGCCAAGGGAGCCTTGT	0.493													6	124	---	---	---	---	0	0
FZD6	8323	broad.mit.edu	37	8	104340581	104340581	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:104340581G>T	ENST00000358755.4	+	5	1795	c.1478G>T	c.(1477-1479)tGg>tTg	p.W493L	FZD6_ENST00000540287.1_Missense_Mutation_p.W188L|FZD6_ENST00000523739.1_Missense_Mutation_p.W461L|FZD6_ENST00000522566.1_Missense_Mutation_p.W493L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	493					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GCTGTCTTCTGGGTTGGAAGC	0.358													5	78	---	---	---	---	0	0
RIMS2	9699	broad.mit.edu	37	8	104922549	104922549	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:104922549G>T	ENST00000262231.10	+	3	1297	c.1049G>T	c.(1048-1050)gGg>gTg	p.G350V	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron	NM_001282881.1	NP_001269810.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	573					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATACCTGTAGGGGACAGTCAA	0.343										HNSCC(12;0.0054)			6	142	---	---	---	---	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457298	110457298	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:110457298C>A	ENST00000378402.5	+	38	5304	c.5200C>A	c.(5200-5202)Cag>Aag	p.Q1734K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1734	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGCCTGCCCAGTGCCAGGG	0.423										HNSCC(38;0.096)			7	313	---	---	---	---	0	0
EBAG9	9166	broad.mit.edu	37	8	110575674	110575674	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:110575674C>A	ENST00000531677.1	+	6	570	c.570C>A	c.(568-570)ccC>ccA	p.P190P	EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TTCATCATCCCACTCCTACCT	0.438													9	451	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113402985	113402985	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:113402985C>A	ENST00000297405.5	-	36	6086	c.5842G>T	c.(5842-5844)Ggg>Tgg	p.G1948W	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1878W|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1844W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1908W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1948	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAATAGTCCCTTTGCGCTTA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	58	---	---	---	---	0	0
ENPP2	0	broad.mit.edu	37	8	120606084	120606084	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:120606084C>A	ENST00000427067.2	-	12	1157	c.977G>T	c.(976-978)aGg>aTg	p.R326M	ENPP2_ENST00000259486.6_Missense_Mutation_p.R382M|ENPP2_ENST00000075322.6_Missense_Mutation_p.R330M|ENPP2_ENST00000522826.1_Missense_Mutation_p.R330M			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	330					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTCGATTTCCCTCAGAGGATT	0.423													7	287	---	---	---	---	0	0
ATAD2	29028	broad.mit.edu	37	8	124357245	124357245	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:124357245C>A	ENST00000287394.5	-	19	2704	c.2597G>T	c.(2596-2598)tGg>tTg	p.W866L	ATAD2_ENST00000521903.1_Missense_Mutation_p.W184L	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AACTATTTCCCACCACACGTG	0.393													7	258	---	---	---	---	0	0
KLHL38	340359	broad.mit.edu	37	8	124663855	124663855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:124663855C>A	ENST00000325995.7	-	1	1335	c.1312G>T	c.(1312-1314)Gga>Tga	p.G438*	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	438										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						ATGTCCTCTCCTCCAAAGAGA	0.542													6	146	---	---	---	---	0	0
FER1L6	654463	broad.mit.edu	37	8	125078687	125078687	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:125078687C>A	ENST00000522917.1	+	27	3780	c.3574C>A	c.(3574-3576)Cgg>Agg	p.R1192R	FER1L6_ENST00000399018.1_Silent_p.R1192R|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1192						integral to membrane		p.R1192R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGCCTTCCCGGAGGTCCAC	0.488													8	457	---	---	---	---	0	0
ZNF7	7553	broad.mit.edu	37	8	146066830	146066830	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr8:146066830C>A	ENST00000528372.1	+	5	578	c.338C>A	c.(337-339)cCa>cAa	p.P113Q	ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.P17Q|ZNF7_ENST00000446747.2_Missense_Mutation_p.P124Q|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.P113Q			P17097	ZNF7_HUMAN	zinc finger protein 7	113					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AGAATCTCCCCACAGGACTTT	0.473													7	260	---	---	---	---	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320978	79320978	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:79320978C>A	ENST00000428286.1	-	8	6335	c.5135G>T	c.(5134-5136)tGg>tTg	p.W1712L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.W2071L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2071					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCATCTATCCACAAGTCAGG	0.517													6	186	---	---	---	---	0	0
GKAP1	80318	broad.mit.edu	37	9	86368205	86368205	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:86368205G>T	ENST00000376371.2	-	9	1208	c.808C>A	c.(808-810)Cag>Aag	p.Q270K	GKAP1_ENST00000376365.3_Missense_Mutation_p.Q219K	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	270					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTCAGCTTCTGGATTTCAGCA	0.323													6	103	---	---	---	---	0	0
NFIL3	4783	broad.mit.edu	37	9	94172257	94172257	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:94172257C>A	ENST00000297689.3	-	2	1154	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	254					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGAGTACCCAGAGAAAGAA	0.498													6	143	---	---	---	---	0	0
PALM2-AKAP2	0	broad.mit.edu	37	9	112898650	112898650	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:112898650C>A	ENST00000374530.3	+	8	1006	c.826C>A	c.(826-828)Ctg>Atg	p.L276M	AKAP2_ENST00000555236.1_Missense_Mutation_p.L276M|AKAP2_ENST00000374525.1_Missense_Mutation_p.L134M|AKAP2_ENST00000259318.7_Missense_Mutation_p.L45M|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.L276M|AKAP2_ENST00000434623.2_Missense_Mutation_p.L134M|AKAP2_ENST00000510514.5_Missense_Mutation_p.L276M	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		45							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCACGAATCCCTGGATAATGA	0.507													5	124	---	---	---	---	0	0
KIAA0368	23392	broad.mit.edu	37	9	114204657	114204657	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:114204657C>A	ENST00000259335.4	-	6	851	c.852G>T	c.(850-852)gtG>gtT	p.V284V	KIAA0368_ENST00000338205.5_Silent_p.V106V	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATTGTTTTTCCACTGGTAGGC	0.398													4	32	---	---	---	---	0	0
TNC	3371	broad.mit.edu	37	9	117838732	117838732	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:117838732C>A	ENST00000350763.4	-	8	3208	c.2797G>T	c.(2797-2799)Ggg>Tgg	p.G933W	TNC_ENST00000537320.1_Missense_Mutation_p.G933W|TNC_ENST00000346706.3_Missense_Mutation_p.G933W|TNC_ENST00000341037.4_Missense_Mutation_p.G933W|TNC_ENST00000340094.3_Missense_Mutation_p.G933W|TNC_ENST00000345230.3_Missense_Mutation_p.G933W|TNC_ENST00000423613.2_Missense_Mutation_p.G933W|TNC_ENST00000542877.1_Missense_Mutation_p.G933W|TNC_ENST00000535648.1_Missense_Mutation_p.G933W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	933	Fibronectin type-III 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCGTGGTCCCCTCCAGAGATG	0.522													7	228	---	---	---	---	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825131	26825131	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:26825131C>A	ENST00000376236.4	+	10	1484	c.1029C>A	c.(1027-1029)ccC>ccA	p.P343P		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	343	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ATTATGTACCCAAAGGAAAGA	0.333													7	183	---	---	---	---	0	0
RP11-85G18.6	0	broad.mit.edu	37	10	27536421	27536421	+	RNA	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:27536421G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TTATGCTCTTGGATGAATGAA	0.567													4	38	---	---	---	---	0	0
FUT11	170384	broad.mit.edu	37	10	75533466	75533466	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:75533466C>A	ENST00000372841.3	+	2	1270	c.1227C>A	c.(1225-1227)ccC>ccA	p.P409P	FUT11_ENST00000394790.1_Silent_p.P409P|FUT11_ENST00000465695.1_3'UTR	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	409					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CGGCCTCTCCCGGGGACAGCC	0.587													5	137	---	---	---	---	0	0
CHCHD1	118487	broad.mit.edu	37	10	75542178	75542178	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:75542178C>A	ENST00000372837.3	+	2	251	c.222C>A	c.(220-222)ctC>ctA	p.L74L	CHCHD1_ENST00000372833.5_Silent_p.L74L			Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	74	CHCH.					nucleus				breast(1)	1	Prostate(51;0.0112)					AGGGCTTCCTCGATTGTGCCG	0.537													4	98	---	---	---	---	0	0
IFIT3	3437	broad.mit.edu	37	10	91099384	91099384	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:91099384G>T	ENST00000371818.4	+	2	1152	c.972G>T	c.(970-972)aaG>aaT	p.K324N	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.K324N|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	324					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTCTTGAGAAGGGACTGAATC	0.413													5	57	---	---	---	---	0	0
NEURL	0	broad.mit.edu	37	10	105350078	105350078	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:105350078C>A	ENST00000369780.4	+	6	2083	c.1674C>A	c.(1672-1674)ccC>ccA	p.P558P	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Silent_p.P541P	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		558					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCTGCTGCCCCATCTGCCGCC	0.627													5	49	---	---	---	---	0	0
C10orf118	55088	broad.mit.edu	37	10	115890993	115890993	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:115890993G>T	ENST00000369287.3	-	12	2280	c.2014C>A	c.(2014-2016)Cag>Aag	p.Q672K	C10orf118_ENST00000543782.1_Missense_Mutation_p.Q270K|C10orf118_ENST00000497592.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	672								p.Q672K(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCTTCTACCTGGGTACTCAAT	0.388													7	297	---	---	---	---	0	0
EIF3A	8661	broad.mit.edu	37	10	120802285	120802285	+	Splice_Site	SNP	C	C	A	rs113384668		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:120802285C>A	ENST00000369144.3	-	19	2875		c.e19-1		EIF3A_ENST00000541549.1_Splice_Site	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A						formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTCCACTCCCTACACAGCAA	0.423													6	146	---	---	---	---	0	0
UBXN1	51035	broad.mit.edu	37	11	62444225	62444225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:62444225C>A	ENST00000294119.2	-	8	1035	c.904G>T	c.(904-906)Gga>Tga	p.G302*	UBXN1_ENST00000301935.5_Intron|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Intron	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	120					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						CCTCCTTTTCCTAGGCATGCC	0.512													7	128	---	---	---	---	0	0
ATL3	25923	broad.mit.edu	37	11	63398754	63398754	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:63398754C>T	ENST00000398868.3	-	12	1573	c.1297G>A	c.(1297-1299)Ggt>Agt	p.G433S	ATL3_ENST00000538786.1_Missense_Mutation_p.G415S|ATL3_ENST00000332645.4_Missense_Mutation_p.G460S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	433					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TTCTTGCTACCATTGTGCTTG	0.493													5	95	---	---	---	---	0	0
EIF1AD	84285	broad.mit.edu	37	11	65767617	65767617	+	Translation_Start_Site	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:65767617C>A	ENST00000525767.1	-	0	137				EIF1AD_ENST00000533544.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000526451.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000312234.2_Missense_Mutation_p.G35W|EIF1AD_ENST00000527249.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000529964.1_Missense_Mutation_p.G35W			Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing							nucleus	translation initiation factor activity			lung(5)	5						AGATTGTTCCCTGGGGTCCTG	0.562													6	78	---	---	---	---	0	0
C11orf80	79703	broad.mit.edu	37	11	66571471	66571471	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:66571471C>A	ENST00000360962.4	+	9	855	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	C11orf80_ENST00000527634.1_Missense_Mutation_p.P65Q|C11orf80_ENST00000525449.2_Missense_Mutation_p.P128Q|C11orf80_ENST00000540737.1_Missense_Mutation_p.P118Q|C11orf80_ENST00000532565.2_Missense_Mutation_p.P64Q|C11orf80_ENST00000346672.4_Missense_Mutation_p.P129Q	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	128										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GACAGTAGACCAAATTTTGGT	0.358													8	214	---	---	---	---	0	0
SIK2	23235	broad.mit.edu	37	11	111594484	111594484	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:111594484C>A	ENST00000304987.3	+	15	2585	c.2412C>A	c.(2410-2412)tcC>tcA	p.S804S		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	804					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CCCTGCCCTCCACTTCCGGTC	0.672													7	234	---	---	---	---	0	0
HMBS	3145	broad.mit.edu	37	11	118960953	118960953	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:118960953C>A	ENST00000537841.1	+	8	716	c.425C>A	c.(424-426)cCg>cAg	p.P142Q	HMBS_ENST00000543090.1_Missense_Mutation_p.P141Q|HMBS_ENST00000544387.1_Missense_Mutation_p.P159Q|HMBS_ENST00000442944.2_Missense_Mutation_p.P142Q|HMBS_ENST00000278715.3_Missense_Mutation_p.P159Q|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000542729.1_Missense_Mutation_p.P142Q|HMBS_ENST00000392841.1_Missense_Mutation_p.P142Q			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	159					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		AGAAAGTTCCCGCATCTGGAG	0.493													5	126	---	---	---	---	0	0
HYLS1	219844	broad.mit.edu	37	11	125769839	125769839	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:125769839C>A	ENST00000425380.2	+	3	1357	c.576C>A	c.(574-576)ccC>ccA	p.P192P	HYLS1_ENST00000356438.3_Silent_p.P192P|PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Silent_p.P192P	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	192						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CCAGCAGACCCAAGTCCTTTA	0.488													5	82	---	---	---	---	0	0
CHD4	1108	broad.mit.edu	37	12	6700934	6700934	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:6700934C>A	ENST00000309577.6	-	21	3311	c.3148G>T	c.(3148-3150)Ggg>Tgg	p.G1050W	CHD4_ENST00000357008.2_Missense_Mutation_p.G1050W|CHD4_ENST00000544040.1_Missense_Mutation_p.G1043W|CHD4_ENST00000544484.1_Missense_Mutation_p.G1047W			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1050					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AATAATTTCCCAGATGCTCTG	0.443													5	84	---	---	---	---	0	0
TPI1	7167	broad.mit.edu	37	12	6978334	6978334	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:6978334G>T	ENST00000229270.4	+	3	759	c.422G>T	c.(421-423)gGg>gTg	p.G141V	TPI1_ENST00000535434.1_Missense_Mutation_p.G22V|TPI1_ENST00000488464.2_Missense_Mutation_p.G22V|TPI1_ENST00000396705.5_Missense_Mutation_p.G104V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	104					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CATGTCTTTGGGGAGTCAGAT	0.502											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	251	---	---	---	---	0	0
CLSTN3	9746	broad.mit.edu	37	12	7295773	7295773	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:7295773C>A	ENST00000537408.1	+	11	2287	c.1749C>A	c.(1747-1749)ccC>ccA	p.P583P	CLSTN3_ENST00000266546.6_Silent_p.P571P			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	571					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACGTGAACCCCTCACAGTCCC	0.622													6	130	---	---	---	---	0	0
PZP	5858	broad.mit.edu	37	12	9318703	9318703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:9318703C>A	ENST00000261336.2	-	18	2231	c.2203G>T	c.(2203-2205)Gaa>Taa	p.E735*	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Nonsense_Mutation_p.E604*	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CGCACCGTTTCAGGGACTGGC	0.438													5	132	---	---	---	---	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471282	47471282	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:47471282C>A	ENST00000266581.4	-	2	1970	c.1504G>T	c.(1504-1506)Ggg>Tgg	p.G502W	AMIGO2_ENST00000321382.3_Missense_Mutation_p.G502W|AMIGO2_ENST00000550413.1_Missense_Mutation_p.G502W|AMIGO2_ENST00000429635.1_Missense_Mutation_p.G502W	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	502					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TCAGATTTCCCCCTCGTGGAC	0.458													4	30	---	---	---	---	0	0
OR6C4	341418	broad.mit.edu	37	12	55945169	55945169	+	Silent	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:55945169C>G	ENST00000394256.2	+	1	187	c.159C>G	c.(157-159)ctC>ctG	p.L53L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACCCCCACCTCCAGACCCCCA	0.418													32	141	---	---	---	---	0	0
ITGA7	3679	broad.mit.edu	37	12	56088619	56088619	+	Silent	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:56088619G>T	ENST00000257880.7	-	16	2490	c.2271C>A	c.(2269-2271)ctC>ctA	p.L757L	ITGA7_ENST00000452168.2_Silent_p.L620L|ITGA7_ENST00000257879.6_Silent_p.L713L|ITGA7_ENST00000553804.1_Silent_p.L717L|ITGA7_ENST00000347027.6_Silent_p.L707L|ITGA7_ENST00000555728.1_Silent_p.L757L|ITGA7_ENST00000394229.2_Silent_p.L713L|ITGA7_ENST00000394230.2_Silent_p.L717L			Q13683	ITA7_HUMAN	integrin, alpha 7	757					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCATGACCAGGAGCTGGGCTT	0.657													4	50	---	---	---	---	0	0
HELB	92797	broad.mit.edu	37	12	66698883	66698883	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:66698883A>G	ENST00000247815.4	+	2	619	c.560A>G	c.(559-561)gAa>gGa	p.E187G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	187					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATGGTCAGGAAGAGTTGTTC	0.353													10	72	---	---	---	---	0	0
C12orf55	144535	broad.mit.edu	37	12	97051751	97051751	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:97051751C>A	ENST00000524981.4	+	37	5215	c.5192C>A	c.(5191-5193)cCt>cAt	p.P1731H						chromosome 12 open reading frame 55																		TTTGAGCATCCTTTGGATGAT	0.358													6	159	---	---	---	---	0	0
STAB2	55576	broad.mit.edu	37	12	104071351	104071351	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:104071351C>A	ENST00000388887.2	+	25	2971	c.2767C>A	c.(2767-2769)Cac>Aac	p.H923N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	923	EGF-like 9.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGCGGCTGCCACGACAACGC	0.582													5	120	---	---	---	---	0	0
ANKLE2	23141	broad.mit.edu	37	12	133311997	133311997	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:133311997C>A	ENST00000539605.1	-	8	8193	c.1509G>T	c.(1507-1509)gtG>gtT	p.V503V	ANKLE2_ENST00000357997.5_Silent_p.V565V|ANKLE2_ENST00000337516.5_Silent_p.V565V|ANKLE2_ENST00000542374.1_5'UTR			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	565						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGTACCTTCCCACTCTCTCAA	0.493													6	124	---	---	---	---	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24234605	24234605	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:24234605C>A	ENST00000382263.3	+	7	896	c.712C>A	c.(712-714)Cgc>Agc	p.R238S	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.R238S|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.R106S|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.R238S	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	238					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CTGCCAGTGCCGCCGTGACTC	0.557													3	20	---	---	---	---	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559748	46559748	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:46559748C>A	ENST00000242848.4	-	10	1752	c.1404G>T	c.(1402-1404)agG>agT	p.R468S	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R468S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	468	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTTAGTTCCCTTCGGTCCC	0.502													6	148	---	---	---	---	0	0
DIS3	22894	broad.mit.edu	37	13	73347832	73347832	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:73347832C>T	ENST00000377767.4	-	8	1329	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	DIS3_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	410					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTTGGATATCTGGAATTTCT	0.323										Multiple Myeloma(4;0.011)			10	42	---	---	---	---	0	0
TSSK4	283629	broad.mit.edu	37	14	24676531	24676531	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:24676531C>A	ENST00000339917.5	+	3	854	c.650C>A	c.(649-651)cCa>cAa	p.P217Q	TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000287913.6_Missense_Mutation_p.P207Q|TSSK4_ENST00000556621.1_Missense_Mutation_p.P131Q|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Intron	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	207	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TACGCTTGCCCAGAGATCTTA	0.537													5	136	---	---	---	---	0	0
CEP170B	283638	broad.mit.edu	37	14	105361070	105361070	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:105361070C>A	ENST00000453495.1	+	19	4776	c.4548C>A	c.(4546-4548)ccC>ccA	p.P1516P	CEP170B_ENST00000414716.3_Silent_p.P1480P|CEP170B_ENST00000418279.1_Silent_p.P1410P|CEP170B_ENST00000556508.1_Silent_p.P1445P					centrosomal protein 170B																		TCGTGGACCCCAGTGGGAGCC	0.657													5	76	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418916	105418916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:105418916C>A	ENST00000333244.5	-	7	2991	c.2872G>T	c.(2872-2874)Gag>Tag	p.E958*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	958						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGAGACACCTCGCCATCGGGG	0.632													7	342	---	---	---	---	0	0
SNHG14	0	broad.mit.edu	37	15	25436497	25436497	+	RNA	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:25436497G>T	ENST00000424208.1	+	0	1092				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						ACTGAGCTGCGGTGAGCCTAT	0.607													5	143	---	---	---	---	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42110410	42110410	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:42110410G>T	ENST00000457542.2	+	18	2285	c.1999G>T	c.(1999-2001)Ggg>Tgg	p.G667W	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G673W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G550W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G506W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G667W	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	673										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGACCCCTCAGGGATCTACAT	0.582													5	75	---	---	---	---	0	0
DUOXA2	405753	broad.mit.edu	37	15	45409938	45409938	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:45409938G>T	ENST00000323030.5	+	6	1079	c.794G>T	c.(793-795)gGg>gTg	p.G265V	DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Silent_p.P409P|DUOXA1_ENST00000430224.2_Silent_p.P364P|DUOXA1_ENST00000267803.4_Silent_p.P409P	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	265					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TTCCTCGGAGGGGCCGTGGTG	0.622													6	104	---	---	---	---	0	0
WDR72	256764	broad.mit.edu	37	15	53992138	53992138	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:53992138C>A	ENST00000396328.1	-	13	1813	c.1574G>T	c.(1573-1575)aGg>aTg	p.R525M	WDR72_ENST00000360509.5_Missense_Mutation_p.R525M|WDR72_ENST00000559418.1_Missense_Mutation_p.R535M|WDR72_ENST00000557913.1_Missense_Mutation_p.R522M	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	525										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTGCTCACCCCTTAGCTGTGA	0.413													5	103	---	---	---	---	0	0
HERC1	8925	broad.mit.edu	37	15	63928257	63928257	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:63928257C>A	ENST00000443617.2	-	65	12404	c.12317G>T	c.(12316-12318)tGg>tTg	p.W4106L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4106					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACCATCTCCCCAGCTAAAGAC	0.552													6	288	---	---	---	---	0	0
RBPMS2	348093	broad.mit.edu	37	15	65041350	65041350	+	Splice_Site	SNP	C	C	A	rs113425903		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:65041350C>A	ENST00000300069.4	-	5	535		c.e5-1		RBPMS2_ENST00000560606.1_Splice_Site	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2								nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						AGCGAATACCCTACATGGGTA	0.498													5	117	---	---	---	---	0	0
ADPGK	83440	broad.mit.edu	37	15	73045050	73045050	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:73045050G>A	ENST00000311669.8	-	7	1216	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F	ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	376	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						ATCCTGGTGAGATCCGAGGCT	0.552													11	57	---	---	---	---	0	0
LOXL1	4016	broad.mit.edu	37	15	74235269	74235269	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:74235269C>A	ENST00000261921.7	+	2	1503	c.1177C>A	c.(1177-1179)Ctg>Atg	p.L393M		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	393	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCTGTACTCCCTGCGCTGTGC	0.592													6	149	---	---	---	---	0	0
MAN2A2	4122	broad.mit.edu	37	15	91461494	91461494	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:91461494C>A	ENST00000360468.3	+	20	3083	c.3065C>A	c.(3064-3066)cCg>cAg	p.P1022Q	MAN2A2_ENST00000430376.2_Missense_Mutation_p.P212Q|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P530Q|MAN2A2_ENST00000559717.1_Missense_Mutation_p.P1022Q|MAN2A2_ENST00000558538.1_3'UTR	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1022					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTGAACGCCCCGGCGCTCGCT	0.592													5	111	---	---	---	---	0	0
TMEM8A	58986	broad.mit.edu	37	16	426140	426140	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:426140T>C	ENST00000431232.2	-	6	1380	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	407					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGTACCTTGTTGGCCCGCAG	0.682													4	24	---	---	---	---	0	0
C16orf59	80178	broad.mit.edu	37	16	2511086	2511086	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:2511086C>A	ENST00000569496.1	+	4	525	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Silent_p.R156R|C16orf59_ENST00000361837.4_Silent_p.R156R			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	156										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCCTGAGCGCCGGCTGCTGTC	0.697													4	56	---	---	---	---	0	0
ADCY9	115	broad.mit.edu	37	16	4163968	4163968	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:4163968C>A	ENST00000294016.3	-	2	2014	c.1476G>T	c.(1474-1476)acG>acT	p.T492T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	492	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGACGGTGCCCGTGTGCACCC	0.567													7	208	---	---	---	---	0	0
CIITA	4261	broad.mit.edu	37	16	11012370	11012370	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:11012370C>A	ENST00000324288.8	+	16	3269	c.3136C>A	c.(3136-3138)Ctg>Atg	p.L1046M	CIITA_ENST00000381835.5_Missense_Mutation_p.L462M	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1046					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CGCTGCATCCCTGCTCAGGCT	0.657			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """						OREG0023606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	209	---	---	---	---	0	0
ACSM1	116285	broad.mit.edu	37	16	20682907	20682907	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:20682907G>T	ENST00000307493.4	-	4	765	c.698C>A	c.(697-699)cCc>cAc	p.P233H	ACSM1_ENST00000520010.1_Missense_Mutation_p.P233H|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	233					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGCCATCTTGGGGAAGCCTGT	0.542													5	68	---	---	---	---	0	0
PLK1	5347	broad.mit.edu	37	16	23692271	23692271	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:23692271G>T	ENST00000300093.4	+	3	725	c.614G>T	c.(613-615)gGg>gTg	p.G205V	PLK1_ENST00000564202.1_Intron	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	205	Activation loop.|Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAATATGACGGGGAGAGGAAG	0.522													7	157	---	---	---	---	0	0
NLRC5	84166	broad.mit.edu	37	16	57116361	57116361	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:57116361C>T	ENST00000262510.6	+	49	5747	c.5522C>T	c.(5521-5523)gCc>gTc	p.A1841V	NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1841					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCGACATGGCCCAGCACCTG	0.567													12	62	---	---	---	---	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67514914	67514914	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:67514914C>A	ENST00000290949.3	-	1	226	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.G26W	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	26					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CTGAGCACCCCGGCCTTCAGG	0.662													4	62	---	---	---	---	0	0
ZFHX3	463	broad.mit.edu	37	16	72821572	72821572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:72821572C>A	ENST00000268489.5	-	10	11275	c.10603G>T	c.(10603-10605)Gag>Tag	p.E3535*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E2621*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3535					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGCGCGCTCTCGCACGCCAGG	0.692													4	87	---	---	---	---	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4443698	4443698	+	Missense_Mutation	SNP	C	C	A	rs150092179		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:4443698C>A	ENST00000254718.4	-	25	3685	c.3379G>T	c.(3379-3381)Ggc>Tgc	p.G1127C	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.G1127C			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1127					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CGGCTGGAGCCGGTGGAGTGT	0.642													4	42	---	---	---	---	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841355	4841355	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:4841355C>A	ENST00000225665.7	-	7	1092	c.752G>T	c.(751-753)cGg>cTg	p.R251L	SLC25A11_ENST00000544061.2_Missense_Mutation_p.R200L	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	251					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						ATCAATCATCCGCATGTTCTG	0.622													4	137	---	---	---	---	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613720	27613720	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:27613720C>A	ENST00000225388.4	-	2	1350	c.1292G>T	c.(1291-1293)gGg>gTg	p.G431V	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	431						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGGCTGACCCCCTGGAGGATA	0.468													5	55	---	---	---	---	0	0
BLMH	642	broad.mit.edu	37	17	28599836	28599836	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:28599836C>A	ENST00000261714.6	-	8	1057	c.883G>T	c.(883-885)Ggg>Tgg	p.G295W	BLMH_ENST00000394819.3_Missense_Mutation_p.G208W	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	295					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GTTTTTCTCCCTCCAACCATA	0.403													5	99	---	---	---	---	0	0
SLFN11	91607	broad.mit.edu	37	17	33690684	33690684	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:33690684C>A	ENST00000394566.1	-	4	415	c.143G>T	c.(142-144)cGg>cTg	p.R48L	SLFN11_ENST00000308377.4_Missense_Mutation_p.R48L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	48						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATGCAGCCCGCATAACTCT	0.458													6	201	---	---	---	---	0	0
C17orf78	284099	broad.mit.edu	37	17	35736258	35736258	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:35736258C>G	ENST00000300618.4	+	3	379	c.329C>G	c.(328-330)tCc>tGc	p.S110C	ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	110						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGCTCTGCCTCCTCAAGCTGT	0.458													6	136	---	---	---	---	0	0
RAB5C	5878	broad.mit.edu	37	17	40280784	40280784	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:40280784G>T	ENST00000393860.3	-	4	517	c.201C>A	c.(199-201)gaC>gaA	p.D67E	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E|RAB5C_ENST00000346213.4_Missense_Mutation_p.D67E	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGACTGTTGTGTCATCCAGGC	0.577													12	66	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:47696643A>C	ENST00000393331.3	-	6	775	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)			15	79	---	---	---	---	0	0
UTP18	51096	broad.mit.edu	37	17	49371301	49371301	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:49371301C>A	ENST00000225298.7	+	12	1598	c.1541C>A	c.(1540-1542)cCa>cAa	p.P514Q		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	514					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TCAAACTTCCCAGTCATTAAA	0.368													4	35	---	---	---	---	0	0
WIPI1	55062	broad.mit.edu	37	17	66432555	66432555	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:66432555C>A	ENST00000262139.5	-	5	495	c.496G>T	c.(496-498)Ggg>Tgg	p.G166W	WIPI1_ENST00000546360.1_Missense_Mutation_p.G84W|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	166					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACAATCTCCCCTGAAGTCAGG	0.502											OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	102	---	---	---	---	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74308971	74308971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:74308971C>A	ENST00000446526.3	-	9	1424	c.979G>T	c.(979-981)Gag>Tag	p.E327*	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Nonsense_Mutation_p.E224*	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	298					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GAGGACTCCTCAATCAGGCGA	0.478													5	118	---	---	---	---	0	0
HEXDC	284004	broad.mit.edu	37	17	80382311	80382311	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:80382311C>A	ENST00000337014.6	+	3	600	c.126C>A	c.(124-126)ctC>ctA	p.L42L	HEXDC_ENST00000577944.1_Silent_p.L42L|HEXDC_ENST00000327949.9_Silent_p.L42L	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	42					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACGGCCTCCTCATTGAGTATG	0.582													5	110	---	---	---	---	0	0
HEXDC	284004	broad.mit.edu	37	17	80398917	80398917	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:80398917G>T	ENST00000337014.6	+	10	1501	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W	HEXDC_ENST00000577944.1_Missense_Mutation_p.G343W|HEXDC_ENST00000327949.9_Missense_Mutation_p.G343W	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	343					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAACCTTCTCGGGATTTCCAG	0.592													5	268	---	---	---	---	0	0
LAMA1	284217	broad.mit.edu	37	18	6943285	6943285	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:6943285G>C	ENST00000389658.3	-	62	9054	c.8961C>G	c.(8959-8961)caC>caG	p.H2987Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2987	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGTGATACGGTGTTTGCTTT	0.493													5	137	---	---	---	---	0	0
SLC14A1	6563	broad.mit.edu	37	18	43311098	43311098	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:43311098C>A	ENST00000321925.4	+	4	502	c.270C>A	c.(268-270)ccC>ccA	p.P90P	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000589700.1_Silent_p.P90P|SLC14A1_ENST00000436407.3_Silent_p.P146P|SLC14A1_ENST00000415427.3_Silent_p.P146P|SLC14A1_ENST00000402943.2_5'UTR|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000586142.1_Silent_p.P90P	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	90						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTCAGAACCCCTGGTGGGCTC	0.547													5	70	---	---	---	---	0	0
ATP8B1	5205	broad.mit.edu	37	18	55319857	55319857	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:55319857C>A	ENST00000536015.1	-	25	3239	c.3120G>T	c.(3118-3120)ggG>ggT	p.G1040G	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.G1040G	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1040			G -> R (in PFIC1).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ATGTTAGGACCCCATGCAACA	0.463													6	99	---	---	---	---	0	0
KDM4B	23030	broad.mit.edu	37	19	5144058	5144058	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:5144058C>A	ENST00000159111.4	+	19	2849	c.2631C>A	c.(2629-2631)tcC>tcA	p.S877S	KDM4B_ENST00000536461.1_Silent_p.S911S	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	877					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTCCACGTCCTTCCACGTGA	0.627													5	101	---	---	---	---	0	0
HNRNPM	4670	broad.mit.edu	37	19	8551064	8551064	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:8551064G>T	ENST00000348943.3	+	15	1867	c.1635G>T	c.(1633-1635)atG>atT	p.M545I	HNRNPM_ENST00000325495.4_Missense_Mutation_p.M584I	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	584	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGAGCGCATGGGTGCCAACA	0.721													5	98	---	---	---	---	0	0
OR7G1	125962	broad.mit.edu	37	19	9225971	9225971	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:9225971G>T	ENST00000293614.1	-	1	468	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	OR7G1_ENST00000541538.1_Missense_Mutation_p.L157M			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CTCTGAACCAGGGCATCCATA	0.483													5	110	---	---	---	---	0	0
RAVER1	125950	broad.mit.edu	37	19	10439413	10439413	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:10439413G>T	ENST00000293677.6	-	3	793	c.712C>A	c.(712-714)Cgc>Agc	p.R238S		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	221	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAGAGGCAGCGGGAGTGGAGA	0.672													3	28	---	---	---	---	0	0
ZNF790	388536	broad.mit.edu	37	19	37314238	37314238	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:37314238C>A	ENST00000356725.4	-	4	298	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGCTCTTTCCCTTTCTCCAAT	0.453													4	43	---	---	---	---	0	0
MEGF8	1954	broad.mit.edu	37	19	42880167	42880167	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:42880167G>T	ENST00000334370.4	+	41	8212	c.7577G>T	c.(7576-7578)cGg>cTg	p.R2526L	MEGF8_ENST00000251268.6_Missense_Mutation_p.R2593L|MEGF8_ENST00000378073.4_Missense_Mutation_p.R187L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2593						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGCGGCGTGCGGGACCGGCTG	0.692													4	98	---	---	---	---	0	0
ZNF576	79177	broad.mit.edu	37	19	44103213	44103213	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:44103213A>C	ENST00000336564.4	+	3	470	c.316A>C	c.(316-318)Act>Cct	p.T106P	ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				GGTTGCAACCACTACTGCCCA	0.652													9	97	---	---	---	---	0	0
CADM4	199731	broad.mit.edu	37	19	44131831	44131831	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:44131831G>T	ENST00000222374.2	-	2	224	c.176C>A	c.(175-177)cCa>cAa	p.P59Q		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	59	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CTGCCGGGCTGGGTTCTGGAT	0.587													5	140	---	---	---	---	0	0
TBC1D20	128637	broad.mit.edu	37	20	419417	419417	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:419417C>A	ENST00000354200.4	-	8	1172	c.1025G>T	c.(1024-1026)cGg>cTg	p.R342L	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	342					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				AAACCGCTGCCGCAGCACCAT	0.557													4	129	---	---	---	---	0	0
NSFL1C	55968	broad.mit.edu	37	20	1433744	1433744	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:1433744C>A	ENST00000216879.4	-	6	1446	c.579G>T	c.(577-579)ctG>ctT	p.L193L	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Silent_p.L195L|NSFL1C_ENST00000353088.2_Silent_p.L162L|NSFL1C_ENST00000350991.4_Silent_p.L195L|NSFL1C_ENST00000381658.4_Silent_p.L82L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	193	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CTCCATTATCCAGGCTGAATC	0.468													6	204	---	---	---	---	0	0
SEL1L2	80343	broad.mit.edu	37	20	13856749	13856749	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:13856749C>A	ENST00000284951.5	-	12	1113	c.1039G>T	c.(1039-1041)Ggg>Tgg	p.G347W	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.G347W			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	347						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GCAGCATTCCCCTCTAAATAC	0.368													6	140	---	---	---	---	0	0
C20orf26	26074	broad.mit.edu	37	20	20180496	20180496	+	Missense_Mutation	SNP	C	C	A	rs116508993	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:20180496C>A	ENST00000245957.5	+	17	1958	c.1882C>A	c.(1882-1884)Ctg>Atg	p.L628M	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	628										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGTCTATCCTCTGGAAAAGCT	0.602													7	151	---	---	---	---	0	0
CEP250	11190	broad.mit.edu	37	20	34078501	34078501	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:34078501G>T	ENST00000397527.1	+	21	3345	c.2625G>T	c.(2623-2625)aaG>aaT	p.K875N	CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	875	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCTGGCAAAGGCTCTGGAGA	0.547													5	101	---	---	---	---	0	0
CEP250	11190	broad.mit.edu	37	20	34092575	34092575	+	Silent	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:34092575C>A	ENST00000397527.1	+	30	7098	c.6378C>A	c.(6376-6378)ccC>ccA	p.P2126P	CEP250_ENST00000342580.4_Silent_p.P2070P	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2126	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGCCTTACCCCACAGCCACA	0.537													6	127	---	---	---	---	0	0
CABLES2	81928	broad.mit.edu	37	20	60966501	60966501	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:60966501C>A	ENST00000279101.5	-	9	1108	c.1100G>T	c.(1099-1101)cGg>cTg	p.R367L		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	367					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCGCATCTCCCGCTTTAAGCT	0.642													5	134	---	---	---	---	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737951	62737951	+	Silent	SNP	C	C	T	rs142068571		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:62737951C>T	ENST00000369768.1	-	1	573	c.234G>A	c.(232-234)acG>acA	p.T78T		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	78						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGTTGGTCACCGTCTTCATCT	0.617													4	17	---	---	---	---	0	0
USP18	0	broad.mit.edu	37	22	18640582	18640582	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:18640582C>A	ENST00000215794.7	+	2	582	c.152C>A	c.(151-153)cCt>cAt	p.P51H		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	51					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TGGGACTACCCTCATGGTCAT	0.552													6	113	---	---	---	---	0	0
THAP7	80764	broad.mit.edu	37	22	21355055	21355055	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:21355055C>A	ENST00000215742.4	-	3	432	c.258G>T	c.(256-258)gaG>gaT	p.E86D	THAP7_ENST00000399133.2_Missense_Mutation_p.E86D	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	86					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGACTGCCCCCTCCTTTAGCC	0.602													6	125	---	---	---	---	0	0
PATZ1	23598	broad.mit.edu	37	22	31741056	31741056	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:31741056G>T	ENST00000266269.5	-	1	1162	c.533C>A	c.(532-534)cCt>cAt	p.P178H	PATZ1_ENST00000405309.3_Missense_Mutation_p.P178H|PATZ1_ENST00000351933.4_Missense_Mutation_p.P178H|PATZ1_ENST00000215919.3_Missense_Mutation_p.P178H	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	178					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CGAGGTCCCAGGGGGGCGAAA	0.592													5	122	---	---	---	---	0	0
KIF4A	24137	broad.mit.edu	37	X	69550106	69550106	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chrX:69550106G>T	ENST00000374403.3	+	9	1077	c.995G>T	c.(994-996)aGa>aTa	p.R332I	KIF4A_ENST00000374388.3_Missense_Mutation_p.R332I	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	332	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TATGCTGACAGAGCAAGAAAA	0.388													5	109	---	---	---	---	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134001	91134001	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chrX:91134001G>T	ENST00000373094.1	+	2	3607	c.2762G>T	c.(2761-2763)tGg>tTg	p.W921L	PCDH11X_ENST00000361724.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.W921L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.W921L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	921					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.W921L(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGTACAATTGGGTAACTACA	0.448													6	128	---	---	---	---	0	0
AGRN	375790	broad.mit.edu	37	1	970664	970664	+	Silent	SNP	C	C	A	rs148157593		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:970664C>A	ENST00000379370.2	+	3	521	c.471C>A	c.(469-471)ccC>ccA	p.P157P	AGRN_ENST00000477585.1_3'UTR	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	157	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.P157P(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGATAAACCCGGGACCCACT	0.617													6	209	---	---	---	---	0	0
CDK11A	728642	broad.mit.edu	37	1	1650857	1650857	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:1650857G>T	ENST00000356200.3	-	3	397	c.163C>A	c.(163-165)Cag>Aag	p.Q55K	CDK11A_ENST00000357760.2_Missense_Mutation_p.Q89K|CDK11A_ENST00000378633.1_Missense_Mutation_p.Q89K|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q89K|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q55K|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q89K|CDK11A_ENST00000378635.3_Missense_Mutation_p.Q89K|RP1-283E3.8_ENST00000598846.1_RNA					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GACATTTGCTGGGGTGGTTTG	0.418													8	392	---	---	---	---	0	0
WRAP73	49856	broad.mit.edu	37	1	3548782	3548782	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:3548782C>A	ENST00000378322.3	-	10	1101	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	WRAP73_ENST00000270708.7_Missense_Mutation_p.R348M			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	348						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTGACCGTTCCTTGTCGCCAG	0.512													6	131	---	---	---	---	0	0
CCDC27	148870	broad.mit.edu	37	1	3670749	3670749	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:3670749C>A	ENST00000294600.2	+	2	470	c.386C>A	c.(385-387)cCc>cAc	p.P129H		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	129										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGGTCTTCCCCACGCATCCT	0.587													8	171	---	---	---	---	0	0
ZBTB48	3104	broad.mit.edu	37	1	6648255	6648255	+	Splice_Site	SNP	A	A	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:6648255A>T	ENST00000377674.4	+	8	1673	c.1515A>T	c.(1513-1515)caA>caT	p.Q505H		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	505						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCCGAACCCAAGGTGAGGTAC	0.622													19	34	---	---	---	---	0	0
KIF1B	23095	broad.mit.edu	37	1	10421013	10421013	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:10421013G>T	ENST00000377086.1	+	39	4284	c.4082G>T	c.(4081-4083)tGg>tTg	p.W1361L	KIF1B_ENST00000377081.1_Missense_Mutation_p.W1361L|KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Missense_Mutation_p.W1315L			O60333	KIF1B_HUMAN	kinesin family member 1B	1361					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCTGTGTGGGATAGCTCT	0.483													6	132	---	---	---	---	0	0
EXOSC10	5394	broad.mit.edu	37	1	11159800	11159800	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:11159800G>T	ENST00000544779.1	-	1	94	c.89C>A	c.(88-90)cCg>cAg	p.P30Q	RP4-635E18.6_ENST00000447600.1_RNA|EXOSC10_ENST00000376936.4_Missense_Mutation_p.P30Q|RP4-635E18.6_ENST00000435388.1_RNA|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P30Q			Q01780	EXOSX_HUMAN	exosome component 10	30					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GTCGGCGTCCGGGAAGCCTGG	0.677													4	52	---	---	---	---	0	0
PRDM2	7799	broad.mit.edu	37	1	14107222	14107222	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:14107222C>A	ENST00000235372.7	+	8	3788	c.2932C>A	c.(2932-2934)Ccg>Acg	p.P978T	PRDM2_ENST00000311066.5_Missense_Mutation_p.P978T|PRDM2_ENST00000413440.1_Missense_Mutation_p.P777T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P777T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	978	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACCCTGTCCCCCGGTATTAAC	0.607													6	133	---	---	---	---	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534231	16534231	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:16534231C>A	ENST00000270747.3	-	4	872	c.736G>T	c.(736-738)Ggg>Tgg	p.G246W		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	246					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGGTCCCCGCTCATCTCT	0.667													4	76	---	---	---	---	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023820	18023820	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:18023820C>A	ENST00000361221.3	+	29	3944	c.3785C>A	c.(3784-3786)cCg>cAg	p.P1262Q	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P1035Q|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P965Q	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1262					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGCAGGCCCCGTGTGGGGAG	0.657													5	98	---	---	---	---	0	0
UBR4	23352	broad.mit.edu	37	1	19436655	19436655	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:19436655G>T	ENST00000375267.2	-	81	12043	c.12040C>A	c.(12040-12042)Ctc>Atc	p.L4014I	UBR4_ENST00000375217.2_Missense_Mutation_p.L4007I|UBR4_ENST00000375254.3_Missense_Mutation_p.L4014I|UBR4_ENST00000375226.2_Missense_Mutation_p.L3990I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4014					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGCACATGAGGGTAATGTTT	0.498													5	96	---	---	---	---	0	0
MAP3K6	9064	broad.mit.edu	37	1	27690833	27690833	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:27690833C>A	ENST00000374040.3	-	3	793	c.533G>T	c.(532-534)cGg>cTg	p.R178L	MAP3K6_ENST00000493901.1_Missense_Mutation_p.R186L|MAP3K6_ENST00000357582.2_Missense_Mutation_p.R186L			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	186					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACACAGCACCCGACCAGTGGC	0.652													4	89	---	---	---	---	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285189	28285189	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:28285189G>T	ENST00000373894.3	+	8	1399	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.G355V|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	403					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TACTCTGCTGGGGTCTGCGAC	0.617													7	121	---	---	---	---	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35916055	35916055	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:35916055G>T	ENST00000325722.3	-	14	2352	c.2118C>A	c.(2116-2118)ccC>ccA	p.P706P	KIAA0319L_ENST00000373266.4_Silent_p.P143P|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	706	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTGCTCGTGGGTAGGGTAA	0.458													5	104	---	---	---	---	0	0
GRIK3	2899	broad.mit.edu	37	1	37499693	37499693	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:37499693C>A	ENST00000373091.3	-	1	33	c.17G>T	c.(16-18)cGg>cTg	p.R6L	GRIK3_ENST00000373093.4_Missense_Mutation_p.R6L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	6					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCGGAGGCGCCGCCAGGGAGC	0.751													3	16	---	---	---	---	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928286	40928286	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:40928286C>A	ENST00000411995.2	+	6	1005	c.630C>A	c.(628-630)ccC>ccA	p.P210P	ZFP69B_ENST00000361584.3_Silent_p.P108P|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		GGCAAATCCCCCTGATGTGCA	0.413													6	148	---	---	---	---	0	0
SZT2	23334	broad.mit.edu	37	1	43902871	43902871	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:43902871C>A	ENST00000562955.1	+	42	5893	c.5893C>A	c.(5893-5895)Cgt>Agt	p.R1965S	SZT2_ENST00000372442.1_Missense_Mutation_p.R1123S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2022						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGTGCGCCCCGTGGGTACCT	0.572													7	120	---	---	---	---	0	0
DMAP1	55929	broad.mit.edu	37	1	44680396	44680396	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:44680396C>A	ENST00000372289.2	+	3	482	c.219C>A	c.(217-219)ccC>ccA	p.P73P	DMAP1_ENST00000315913.5_Silent_p.P73P|DMAP1_ENST00000361745.6_Silent_p.P73P	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	73					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CACTGCTACCCAGTGACACTG	0.567													5	65	---	---	---	---	0	0
TMEM69	51249	broad.mit.edu	37	1	46159036	46159036	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:46159036C>A	ENST00000372025.4	+	3	1360	c.203C>A	c.(202-204)cCc>cAc	p.P68H	TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	68						integral to membrane				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CATACATCCCCCTGCAGCTTT	0.468													10	407	---	---	---	---	0	0
FAAH	2166	broad.mit.edu	37	1	46874198	46874198	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:46874198C>A	ENST00000243167.8	+	8	1103	c.1019C>A	c.(1018-1020)cCg>cAg	p.P340Q	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	340					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	ATGCCCTCCCCGGCCATGAGG	0.617													8	298	---	---	---	---	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514236	47514236	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:47514236G>T	ENST00000371901.3	+	10	1457		c.e10-1		CYP4X1_ENST00000538609.1_Splice_Site	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1							endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCCTTTCTTAGGGATCACCGT	0.428													8	334	---	---	---	---	0	0
ELAVL4	1996	broad.mit.edu	37	1	50642827	50642827	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:50642827C>T	ENST00000371824.1	+	3	574	c.317C>T	c.(316-318)aCt>aTt	p.T106I	ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.T106I			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	106	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCCATCAACACTTTAAATGGA	0.398													22	47	---	---	---	---	0	0
LRP8	7804	broad.mit.edu	37	1	53716447	53716447	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:53716447G>T	ENST00000306052.6	-	17	2692	c.2591C>A	c.(2590-2592)cCa>cAa	p.P864Q	LRP8_ENST00000354412.3_Missense_Mutation_p.P660Q|LRP8_ENST00000465675.1_Missense_Mutation_p.P417Q|LRP8_ENST00000371454.2_Missense_Mutation_p.P864Q|LRP8_ENST00000347547.2_Missense_Mutation_p.P694Q	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	864					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCTGTAGACTGGGTTGTCAAA	0.463													5	80	---	---	---	---	0	0
CACHD1	57685	broad.mit.edu	37	1	65138882	65138882	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:65138882C>A	ENST00000371073.2	+	18	2552	c.2552C>A	c.(2551-2553)cCg>cAg	p.P851Q	CACHD1_ENST00000290039.5_Missense_Mutation_p.P800Q|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	851	Cache 2.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTGGCGCACCCGACTCTCATC	0.483													5	207	---	---	---	---	0	0
WDR78	79819	broad.mit.edu	37	1	67313297	67313297	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:67313297C>A	ENST00000371026.3	-	8	1216	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D	WDR78_ENST00000431318.1_Missense_Mutation_p.E133D|WDR78_ENST00000371023.3_Missense_Mutation_p.E387D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	387										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGTGGTCTTCCTCATCTTCAT	0.308													5	68	---	---	---	---	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575235	74575235	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:74575235G>T	ENST00000354431.4	-	5	901	c.710C>A	c.(709-711)cCt>cAt	p.P237H	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.P129H|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P237H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	237	IQ.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAAAAACACAGGGCTGAATAT	0.318													6	107	---	---	---	---	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510163	77510163	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:77510163G>T	ENST00000477717.1	+	3	771	c.536G>T	c.(535-537)cGg>cTg	p.R179L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	179					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TACATGCGGCGGGACGGCAAG	0.602													5	114	---	---	---	---	0	0
SYDE2	84144	broad.mit.edu	37	1	85655748	85655748	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:85655748G>T	ENST00000341460.5	-	2	1482	c.1433C>A	c.(1432-1434)cCt>cAt	p.P478H		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	478					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ACCTGCAAAAGGAGATTTCAA	0.343													6	169	---	---	---	---	0	0
WDR47	22911	broad.mit.edu	37	1	109538407	109538407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:109538407C>A	ENST00000357672.3	-	7	1777	c.1402G>T	c.(1402-1404)Gag>Tag	p.E468*	WDR47_ENST00000369962.3_Nonsense_Mutation_p.E496*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.E468*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.E497*|WDR47_ENST00000400794.3_Nonsense_Mutation_p.E504*			O94967	WDR47_HUMAN	WD repeat domain 47	496	Gln-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GCTGATACCTCATTACCAAGG	0.353													6	194	---	---	---	---	0	0
CYB561D1	284613	broad.mit.edu	37	1	110037802	110037802	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:110037802G>T	ENST00000430195.2	+	3	315	c.290G>T	c.(289-291)cGg>cTg	p.R97L	CYB561D1_ENST00000393709.3_Intron|CYB561D1_ENST00000369868.3_Intron|CYB561D1_ENST00000528785.1_Splice_Site_p.A62A|CYB561D1_ENST00000527072.1_Intron|CYB561D1_ENST00000310611.4_Splice_Site_p.R97L|CYB561D1_ENST00000496961.1_Splice_Site_p.A62A|CYB561D1_ENST00000533024.1_Splice_Site_p.R18L|CYB561D1_ENST00000420578.2_Splice_Site_p.A62A			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	0	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGGCCTTGGCGGTGAGTTTAG	0.493													7	291	---	---	---	---	0	0
OLFML3	56944	broad.mit.edu	37	1	114524121	114524121	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:114524121C>A	ENST00000369551.1	+	4	1179	c.891C>A	c.(889-891)ccC>ccA	p.P297P	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Silent_p.P317P|OLFML3_ENST00000393300.2_Silent_p.P297P			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	317	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCATGTCCCAGAGAGAATG	0.572													5	72	---	---	---	---	0	0
RP11-14N7.2	0	broad.mit.edu	37	1	148932875	148932875	+	RNA	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:148932875G>T	ENST00000539543.1	+	0	131					NR_027355.2																						GGTGGGAGACGGGTGAGGTAC	0.632													6	155	---	---	---	---	0	0
BNIPL	149428	broad.mit.edu	37	1	151011338	151011338	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:151011338C>A	ENST00000295294.7	+	4	632	c.23C>A	c.(22-24)cCa>cAa	p.P8Q	BNIPL_ENST00000368931.3_Missense_Mutation_p.P90Q	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	90					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTTCTGCCCCAGAGTTGCGG	0.577													5	62	---	---	---	---	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151204728	151204728	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:151204728G>T	ENST00000409426.1	+	5	782	c.337G>T	c.(337-339)Ggg>Tgg	p.G113W	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.G113W|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.G125W|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.G112W			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	125	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACAGTGAAGGGAGCAACCT	0.522													6	151	---	---	---	---	0	0
ZNF687	57592	broad.mit.edu	37	1	151262651	151262651	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:151262651C>A	ENST00000368879.2	+	7	3116	c.3018C>A	c.(3016-3018)ccC>ccA	p.P1006P		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1006					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCCGCCCCCAGCCTGAGGC	0.602													6	119	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152279709	152279709	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:152279709C>A	ENST00000368799.1	-	3	7688	c.7653G>T	c.(7651-7653)caG>caT	p.Q2551H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2551	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGATTGTCCCTGGCCCACCT	0.587									Ichthyosis				8	324	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152281407	152281407	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:152281407G>T	ENST00000368799.1	-	3	5990	c.5955C>A	c.(5953-5955)tcC>tcA	p.S1985S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1985	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCACGAGAGGAAGACTCTG	0.577									Ichthyosis				11	647	---	---	---	---	0	0
CRNN	49860	broad.mit.edu	37	1	152382841	152382841	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:152382841G>T	ENST00000271835.3	-	3	779	c.717C>A	c.(715-717)acC>acA	p.T239T	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	239	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGTCTGGGTGGCACCTG	0.597													9	321	---	---	---	---	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153318593	153318593	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:153318593G>T	ENST00000368739.3	-	3	482	c.124C>A	c.(124-126)Cag>Aag	p.Q42K	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.Q42K|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	42					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGTGAGCTGGGAGATGTTC	0.453													8	283	---	---	---	---	0	0
INTS3	65123	broad.mit.edu	37	1	153735803	153735803	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:153735803C>A	ENST00000456435.1	+	16	2299	c.1113C>A	c.(1111-1113)tcC>tcA	p.S371S	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.S577S|INTS3_ENST00000512605.1_Silent_p.S371S|INTS3_ENST00000318967.2_Silent_p.S577S			Q68E01	INT3_HUMAN	integrator complex subunit 3	578					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGATGAGTCCCTGAGGGACA	0.512													6	139	---	---	---	---	0	0
NES	10763	broad.mit.edu	37	1	156640356	156640356	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:156640356C>A	ENST00000368223.3	-	4	3756	c.3624G>T	c.(3622-3624)gaG>gaT	p.E1208D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1208	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCAGCTTCCTCTGACCCCA	0.647													6	134	---	---	---	---	0	0
INSRR	3645	broad.mit.edu	37	1	156811571	156811571	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:156811571C>A	ENST00000368195.3	-	20	3809	c.3413G>T	c.(3412-3414)cGg>cTg	p.R1138L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1138	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATACACGTCCCGAGTCATCCC	0.602													6	154	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158639501	158639501	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:158639501C>A	ENST00000368147.4	-	13	1855	c.1675G>T	c.(1675-1677)Ggg>Tgg	p.G559W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G559W(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGACATACCCCGTCACGGATA	0.433													7	259	---	---	---	---	0	0
OR6K3	391114	broad.mit.edu	37	1	158687669	158687669	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:158687669G>T	ENST00000368146.1	-	1	284	c.285C>A	c.(283-285)ccC>ccA	p.P95P	OR6K3_ENST00000368145.1_Silent_p.P79P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAGCATCTTGGGAATGGTGG	0.453													8	259	---	---	---	---	0	0
PEX19	5824	broad.mit.edu	37	1	160254884	160254884	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:160254884C>A	ENST00000368072.5	-	1	52	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000440949.3_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTTCGGCCCCGACACTACAG	0.632													5	112	---	---	---	---	0	0
NOS1AP	9722	broad.mit.edu	37	1	162313729	162313729	+	Silent	SNP	A	A	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:162313729A>G	ENST00000361897.5	+	6	960	c.558A>G	c.(556-558)ggA>ggG	p.G186G	NOS1AP_ENST00000530878.1_Silent_p.G181G	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	186	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGAAGATGGAGAGAGCGAGA	0.587													3	66	---	---	---	---	0	0
RCSD1	92241	broad.mit.edu	37	1	167663439	167663439	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:167663439C>A	ENST00000367854.3	+	5	705	c.374C>A	c.(373-375)cCc>cAc	p.P125H	RCSD1_ENST00000537350.1_Missense_Mutation_p.P95H	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	125										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTTCTACCCCCAGCAGCCCT	0.587													6	74	---	---	---	---	0	0
LAMC1	3915	broad.mit.edu	37	1	183072514	183072514	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:183072514C>A	ENST00000258341.4	+	2	727	c.470C>A	c.(469-471)cCg>cAg	p.P157Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	157	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCAGCCGCCCGGAGAGCTTT	0.493													5	213	---	---	---	---	0	0
LAMC2	3918	broad.mit.edu	37	1	183177030	183177030	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:183177030G>T	ENST00000264144.4	+	2	159	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	LAMC2_ENST00000493293.1_Missense_Mutation_p.G32W	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	32	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGATTGCAATGGGAAGTCCAG	0.423													6	181	---	---	---	---	0	0
RGL1	23179	broad.mit.edu	37	1	183881372	183881372	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:183881372C>A	ENST00000304685.4	+	16	2273	c.1824C>A	c.(1822-1824)ccC>ccA	p.P608P	RGL1_ENST00000539189.1_Silent_p.P544P|RGL1_ENST00000536277.1_Silent_p.P571P|RGL1_ENST00000360851.3_Silent_p.P573P	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1		Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCATTACTCCCATGGACACCC	0.527													5	43	---	---	---	---	0	0
PTGS2	5743	broad.mit.edu	37	1	186646027	186646027	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:186646027C>A	ENST00000367468.5	-	6	797	c.661G>T	c.(661-663)Ggt>Tgt	p.G221C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	221					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	AGAGTTTCACCGTAAATATGA	0.313													5	212	---	---	---	---	0	0
ASPM	259266	broad.mit.edu	37	1	197094066	197094066	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:197094066C>A	ENST00000367409.4	-	12	3358	c.3102G>T	c.(3100-3102)aaG>aaT	p.K1034N	ASPM_ENST00000367408.1_Missense_Mutation_p.K284N|ASPM_ENST00000294732.7_Missense_Mutation_p.K1034N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1034	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCACAATATCCTTAGATAGAA	0.323													6	144	---	---	---	---	0	0
DDX59	83479	broad.mit.edu	37	1	200613506	200613506	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:200613506G>T	ENST00000331314.6	-	8	1949	c.1736C>A	c.(1735-1737)cCa>cAa	p.P579Q	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	579	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATGAAGGTATGGGGAATTTAA	0.358													7	185	---	---	---	---	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204378927	204378927	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:204378927C>A	ENST00000367188.4	-	1	1992	c.1613G>T	c.(1612-1614)gGg>gTg	p.G538V	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	538					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATCTTCCTCCCCAGAACTATG	0.458													6	56	---	---	---	---	0	0
SLC26A9	115019	broad.mit.edu	37	1	205901876	205901876	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:205901876G>T	ENST00000367135.3	-	4	443	c.330C>A	c.(328-330)ccC>ccA	p.P110P	SLC26A9_ENST00000367134.2_Silent_p.P110P|SLC26A9_ENST00000340781.4_Silent_p.P110P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	110						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGTCAGGAGGGGGAAGAAGG	0.592													6	49	---	---	---	---	0	0
USH2A	7399	broad.mit.edu	37	1	215844538	215844538	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:215844538G>T	ENST00000366943.2	-	64	14295	c.13909C>A	c.(13909-13911)Cct>Act	p.P4637T	USH2A_ENST00000307340.3_Missense_Mutation_p.P4637T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4637	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATGTGGAGGGGGTTGCATC	0.478										HNSCC(13;0.011)			6	108	---	---	---	---	0	0
LBR	3930	broad.mit.edu	37	1	225611726	225611726	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:225611726C>A	ENST00000338179.2	-	2	177	c.52G>T	c.(52-54)Ggg>Tgg	p.G18W	LBR_ENST00000272163.4_Missense_Mutation_p.G18W	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	18	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AGTGAACTCCCAGGCCATCGA	0.373													10	494	---	---	---	---	0	0
SDE2	163859	broad.mit.edu	37	1	226175877	226175877	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:226175877G>T	ENST00000272091.7	-	6	872	c.854C>A	c.(853-855)cCg>cAg	p.P285Q		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		GTCAGTCACCGGGATCTGCAG	0.502													7	185	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228462475	228462475	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:228462475G>T	ENST00000570156.2	+	24	7085	c.7011G>T	c.(7009-7011)ctG>ctT	p.L2337L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L1962L|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000359599.6_Silent_p.L809L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.L1962L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1322	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCTGGTGCTGGAGGACGCGG	0.647													4	14	---	---	---	---	0	0
WDR64	128025	broad.mit.edu	37	1	241958523	241958523	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:241958523C>A	ENST00000366552.2	+	25	3189	c.2982C>A	c.(2980-2982)ccC>ccA	p.P994P	WDR64_ENST00000437684.2_Silent_p.P827P	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	994										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAAGATATCCCTTGGAAGGTT	0.443													6	141	---	---	---	---	0	0
CNST	163882	broad.mit.edu	37	1	246784922	246784922	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:246784922C>A	ENST00000366513.4	+	3	840	c.571C>A	c.(571-573)Ctt>Att	p.L191I	CNST_ENST00000366512.3_Missense_Mutation_p.L191I|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	191					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGCACTTCCCCTTTGCCTTCA	0.468													8	169	---	---	---	---	0	0
OR2L8	391190	broad.mit.edu	37	1	248112853	248112853	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:248112853G>T	ENST00000357191.3	+	1	694	c.694G>T	c.(694-696)Ggg>Tgg	p.G232W	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATCTGCAGAAGGGAGGAAGAA	0.453													6	160	---	---	---	---	0	0
PXDN	7837	broad.mit.edu	37	2	1667464	1667464	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:1667464G>T	ENST00000252804.4	-	12	1530	c.1480C>A	c.(1480-1482)Ctc>Atc	p.L494I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	494	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGTCGTGGAGGGCAACACCA	0.622													6	117	---	---	---	---	0	0
ROCK2	9475	broad.mit.edu	37	2	11367418	11367418	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:11367418C>A	ENST00000315872.6	-	6	1278	c.830G>T	c.(829-831)tGg>tTg	p.W277L	ROCK2_ENST00000401753.1_Missense_Mutation_p.W34L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	277	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TACAGACCACCAATCACATTC	0.368													7	203	---	---	---	---	0	0
IFT172	26160	broad.mit.edu	37	2	27688726	27688726	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:27688726C>A	ENST00000260570.3	-	17	1819	c.1716G>T	c.(1714-1716)cgG>cgT	p.R572R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	572					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTCCCCCGCCCCGCTCCAGAC	0.488													9	407	---	---	---	---	0	0
C2orf16	84226	broad.mit.edu	37	2	27804602	27804602	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:27804602C>A	ENST00000408964.2	+	1	5214	c.5163C>A	c.(5161-5163)ccC>ccA	p.P1721P		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1721	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCGCAGTCCCGCTCGGAGGA	0.567													7	263	---	---	---	---	0	0
C2orf16	84226	broad.mit.edu	37	2	27804794	27804794	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:27804794C>A	ENST00000408964.2	+	1	5406	c.5355C>A	c.(5353-5355)ccC>ccA	p.P1785P	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1785	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCACAGTCCCTCAGAGAAAA	0.542													7	234	---	---	---	---	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43939470	43939470	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:43939470C>A	ENST00000282406.4	+	15	2518	c.2408C>A	c.(2407-2409)cCa>cAa	p.P803Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	803						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTGCCAACCCACTTTCCCTG	0.468													5	81	---	---	---	---	0	0
OTX1	5013	broad.mit.edu	37	2	63280185	63280185	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:63280185C>A	ENST00000366671.3	+	3	336	c.60C>A	c.(58-60)ccC>ccA	p.P20P	OTX1_ENST00000282549.2_Silent_p.P20P	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	20						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P20P(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					TGGCCGGGCCCGCCATGGACC	0.657													5	154	---	---	---	---	0	0
LGALSL	29094	broad.mit.edu	37	2	64683534	64683534	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:64683534G>T	ENST00000238875.5	+	4	764	c.310G>T	c.(310-312)Ggg>Tgg	p.G104W	LGALSL_ENST00000409537.2_Intron	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	104	Galectin.					intracellular	sugar binding										TTGTATATCTGGGGAGAGGGG	0.527													8	277	---	---	---	---	0	0
CEP68	23177	broad.mit.edu	37	2	65298930	65298930	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:65298930C>A	ENST00000377990.2	+	3	903	c.700C>A	c.(700-702)Cag>Aag	p.Q234K	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.Q234K|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.Q234K	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	234					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTCGTCCCCCAGGAACCTTC	0.652													8	107	---	---	---	---	0	0
POLR1A	25885	broad.mit.edu	37	2	86257427	86257427	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:86257427C>A	ENST00000263857.6	-	31	5049	c.4671G>T	c.(4669-4671)aaG>aaT	p.K1557N	POLR1A_ENST00000409681.1_Missense_Mutation_p.K1496N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1557					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGTGATGCCCTTGGTCGCAT	0.478													7	108	---	---	---	---	0	0
KDM3A	55818	broad.mit.edu	37	2	86693619	86693619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:86693619G>T	ENST00000409556.1	+	11	1497	c.1132G>T	c.(1132-1134)Gga>Tga	p.G378*	KDM3A_ENST00000542128.1_Nonsense_Mutation_p.G326*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.G378*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.G378*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	378					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GATTGGAACTGGAGACTTGAA	0.433													6	218	---	---	---	---	0	0
IGKV3-7	0	broad.mit.edu	37	2	89278096	89278096	+	RNA	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:89278096G>T	ENST00000390247.2	-	0	335																											GAACCTGGCTGGGATGCTAGT	0.537													6	139	---	---	---	---	0	0
ZNF514	84874	broad.mit.edu	37	2	95815602	95815602	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:95815602C>A	ENST00000295208.2	-	5	1090	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W	ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						AAGGACTTCCCACACTCATTA	0.443													6	151	---	---	---	---	0	0
TMEM131	23505	broad.mit.edu	37	2	98451389	98451389	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:98451389C>A	ENST00000186436.5	-	9	1033		c.e9-1		TMEM131_ENST00000425805.2_Splice_Site	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGGAATTTCCTGACAAGTTA	0.368													6	167	---	---	---	---	0	0
IL1RL2	8808	broad.mit.edu	37	2	102804319	102804319	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:102804319G>T	ENST00000441515.2	+	2	81	c.72G>T	c.(70-72)ccG>ccT	p.P24P	IL1RL2_ENST00000264257.2_5'UTR|IL1RL2_ENST00000539491.1_5'UTR|IL1RL2_ENST00000481806.1_3'UTR			Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	0	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTTGCAGCCCGGTTTGGGGAT	0.652													5	103	---	---	---	---	0	0
RGPD4	285190	broad.mit.edu	37	2	108487617	108487617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:108487617G>T	ENST00000408999.3	+	20	3234	c.3157G>T	c.(3157-3159)Gga>Tga	p.G1053*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.G1053*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1053	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACTTGTAATAGGAGAAGAAGG	0.393													12	856	---	---	---	---	0	0
ANAPC1	64682	broad.mit.edu	37	2	112620054	112620054	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:112620054T>C	ENST00000341068.3	-	10	1946	c.1174A>G	c.(1174-1176)Aat>Gat	p.N392D		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AAGGAGCCATTAGAATTACTA	0.378													6	24	---	---	---	---	0	0
MAP3K2	10746	broad.mit.edu	37	2	128066229	128066229	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:128066229C>A	ENST00000409947.1	-	16	1848	c.1566G>T	c.(1564-1566)acG>acT	p.T522T	MAP3K2_ENST00000344908.5_Silent_p.T522T			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	522	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		ATGGTGTGCCCGTGACAGACT	0.488													7	348	---	---	---	---	0	0
MAP3K2	10746	broad.mit.edu	37	2	128079650	128079650	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:128079650G>T	ENST00000409947.1	-	12	1299	c.1017C>A	c.(1015-1017)acC>acA	p.T339T	MAP3K2_ENST00000344908.5_Silent_p.T339T			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	339					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TGTCCATTACGGTCAAAGTAG	0.378													3	25	---	---	---	---	0	0
MGAT5	4249	broad.mit.edu	37	2	135076250	135076250	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:135076250C>A	ENST00000409645.1	+	5	765	c.513C>A	c.(511-513)ccC>ccA	p.P171P	MGAT5_ENST00000281923.2_Silent_p.P171P			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	171					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GTTCAGATCCCTGCTACGCAG	0.512													7	236	---	---	---	---	0	0
THSD7B	80731	broad.mit.edu	37	2	137928433	137928433	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:137928433G>T	ENST00000409968.1	+	7	1826	c.1648G>T	c.(1648-1650)Ggg>Tgg	p.G550W	THSD7B_ENST00000413152.2_Missense_Mutation_p.G519W|THSD7B_ENST00000272643.3_Missense_Mutation_p.G550W|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGCATCAGAAGGGATCTGTTT	0.537													5	50	---	---	---	---	0	0
ZEB2	9839	broad.mit.edu	37	2	145156365	145156365	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:145156365G>T	ENST00000558170.2	-	8	3573	c.2389C>A	c.(2389-2391)Cac>Aac	p.H797N	ZEB2_ENST00000303660.4_Missense_Mutation_p.H797N|ZEB2_ENST00000409487.3_Missense_Mutation_p.H797N|ZEB2_ENST00000539609.3_Missense_Mutation_p.H773N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	797						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAACTACTGTGGGAGTTTTTA	0.393													7	185	---	---	---	---	0	0
NEB	4703	broad.mit.edu	37	2	152370886	152370886	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:152370886C>A	ENST00000427231.2	-	159	23275	c.23073G>T	c.(23071-23073)atG>atT	p.M7691I	NEB_ENST00000603639.1_Missense_Mutation_p.M7691I|NEB_ENST00000604864.1_Missense_Mutation_p.M7691I|NEB_ENST00000397345.3_Missense_Mutation_p.M7691I|NEB_ENST00000172853.10_Missense_Mutation_p.M5990I|NEB_ENST00000409198.1_Missense_Mutation_p.M5990I	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5990					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGTATCTTCCATTTCAGTGA	0.443													7	320	---	---	---	---	0	0
NEB	4703	broad.mit.edu	37	2	152487817	152487817	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:152487817C>A	ENST00000427231.2	-	66	9660	c.9458G>T	c.(9457-9459)tGg>tTg	p.W3153L	NEB_ENST00000603639.1_Missense_Mutation_p.W3153L|NEB_ENST00000604864.1_Missense_Mutation_p.W3153L|NEB_ENST00000397345.3_Missense_Mutation_p.W3153L|NEB_ENST00000172853.10_Intron|NEB_ENST00000409198.1_Intron	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3153					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGGGGACCCAGCCAATGCC	0.448													6	78	---	---	---	---	0	0
SCN1A	6323	broad.mit.edu	37	2	166852624	166852624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:166852624C>A	ENST00000423058.2	-	24	4497	c.4480G>T	c.(4480-4482)Gga>Tga	p.G1494*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G1483*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.G1494*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.G1466*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1494						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTGACCTCCAAAGTATAGA	0.308													5	91	---	---	---	---	0	0
SLC25A12	8604	broad.mit.edu	37	2	172683358	172683358	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:172683358G>T	ENST00000422440.2	-	9	917	c.880C>A	c.(880-882)Cca>Aca	p.P294T	SLC25A12_ENST00000392592.4_Missense_Mutation_p.P187T	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	294					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TCAGCCAATGGGGCTATTCTC	0.403													6	116	---	---	---	---	0	0
ANKRD44	91526	broad.mit.edu	37	2	197946386	197946386	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:197946386C>A	ENST00000328737.2	-	15	1522	c.1446G>T	c.(1444-1446)aaG>aaT	p.K482N	ANKRD44_ENST00000282272.8_Missense_Mutation_p.K499N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.K482N|ANKRD44_ENST00000337207.5_Missense_Mutation_p.K482N|ANKRD44_ENST00000409153.1_Missense_Mutation_p.K507N|ANKRD44_ENST00000539527.1_Missense_Mutation_p.K435N			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	507							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTCCTTTTCCTTCAGCTCCC	0.408													8	287	---	---	---	---	0	0
ATIC	471	broad.mit.edu	37	2	216213941	216213941	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:216213941C>A	ENST00000435675.1	+	14	2016	c.1625C>A	c.(1624-1626)cCt>cAt	p.P542H	ATIC_ENST00000236959.9_Missense_Mutation_p.P543H|ATIC_ENST00000540518.1_Missense_Mutation_p.P484H			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	543					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GCCTTCTTCCCTTTCCGAGAT	0.433			T	ALK	ALCL								6	88	---	---	---	---	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677402	219677402	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:219677402C>A	ENST00000258415.4	+	4	1201	c.774C>A	c.(772-774)ccC>ccA	p.P258P		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	258					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CCTTCCTCCCCAAGTGGACTC	0.572													10	379	---	---	---	---	0	0
DOCK10	55619	broad.mit.edu	37	2	225657754	225657754	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:225657754G>T	ENST00000409592.3	-	47	5343	c.5230C>A	c.(5230-5232)Ctg>Atg	p.L1744M	DOCK10_ENST00000258390.7_Missense_Mutation_p.L1750M			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1750	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCCGAGAGCAGGGATGCTGTG	0.443													8	242	---	---	---	---	0	0
DNER	92737	broad.mit.edu	37	2	230450627	230450627	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:230450627C>A	ENST00000341772.4	-	4	928	c.794G>T	c.(793-795)gGg>gTg	p.G265V	DNER_ENST00000482831.1_5'UTR	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	265					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GACCAGTCCCCCTGAAGCCTG	0.517													6	82	---	---	---	---	0	0
ALPPL2	251	broad.mit.edu	37	2	233273012	233273012	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:233273012C>A	ENST00000295453.3	+	6	736	c.684C>A	c.(682-684)ccC>ccA	p.P228P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	228					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	ACATGTTTCCCATGGGGACCC	0.617													6	116	---	---	---	---	0	0
AGAP1	116987	broad.mit.edu	37	2	236617868	236617868	+	Missense_Mutation	SNP	C	C	A	rs139445824	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:236617868C>A	ENST00000304032.8	+	2	789	c.209C>A	c.(208-210)cCg>cAg	p.P70Q	AGAP1_ENST00000409457.1_Missense_Mutation_p.P70Q|AGAP1_ENST00000409538.1_Missense_Mutation_p.P335Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.P70Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGATCTGTCCCGGAGCTCAAA	0.562													5	179	---	---	---	---	0	0
COL6A3	1293	broad.mit.edu	37	2	238266526	238266526	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:238266526C>A	ENST00000295550.4	-	22	6924		c.e22-1		COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.?(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGGTTACCCTGAAAGCAAC	0.527													7	208	---	---	---	---	0	0
STK25	10494	broad.mit.edu	37	2	242438544	242438544	+	Missense_Mutation	SNP	C	C	A	rs139865238		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:242438544C>A	ENST00000316586.4	-	7	980	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W	STK25_ENST00000535007.1_Missense_Mutation_p.G117W|STK25_ENST00000401869.1_Missense_Mutation_p.G211W|STK25_ENST00000405883.3_Missense_Mutation_p.G134W|STK25_ENST00000405585.1_Missense_Mutation_p.G134W|STK25_ENST00000403346.3_Missense_Mutation_p.G211W|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000543554.1_Missense_Mutation_p.G117W	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	211	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GGAGGCTCCCCCTTGGCCAGC	0.617													5	55	---	---	---	---	0	0
SUMF1	285362	broad.mit.edu	37	3	4452617	4452617	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:4452617C>A	ENST00000272902.5	-	7	921	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	SUMF1_ENST00000458465.2_Missense_Mutation_p.G164W|SUMF1_ENST00000383843.5_Missense_Mutation_p.G271W|SUMF1_ENST00000405420.2_Missense_Mutation_p.G296W|SUMF1_ENST00000534863.1_Missense_Mutation_p.G296W	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	296						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATGCGTTCCCCACTATGTTG	0.413													7	219	---	---	---	---	0	0
THUMPD3	25917	broad.mit.edu	37	3	9412787	9412787	+	Missense_Mutation	SNP	C	C	A	rs150258248		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:9412787C>A	ENST00000345094.3	+	4	708	c.374C>A	c.(373-375)cCa>cAa	p.P125Q	THUMPD3_ENST00000452837.2_Missense_Mutation_p.P125Q|THUMPD3_ENST00000515662.2_Missense_Mutation_p.P125Q|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	125							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GGAAAACTCCCATGGTCAAAC	0.323													6	186	---	---	---	---	0	0
XPC	7508	broad.mit.edu	37	3	14200143	14200143	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:14200143G>T	ENST00000285021.7	-	9	1454	c.1240C>A	c.(1240-1242)Cag>Aag	p.Q414K	XPC_ENST00000449060.2_Missense_Mutation_p.Q377K	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	414	Arg/Lys-rich (basic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGACGTCGCTGGGTTGCCTTC	0.602			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	198	---	---	---	---	0	0
BTD	686	broad.mit.edu	37	3	15677018	15677018	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:15677018C>A	ENST00000383778.4	+	2	430	c.72C>A	c.(70-72)acC>acA	p.T24T	BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Silent_p.T46T|BTD_ENST00000303498.5_Silent_p.T44T|BTD_ENST00000437172.1_Silent_p.T46T	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	44					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GAGCCCACACCGGGGAGGAGA	0.532													5	151	---	---	---	---	0	0
TRIM71	131405	broad.mit.edu	37	3	32915352	32915352	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:32915352C>A	ENST00000383763.5	+	2	958	c.895C>A	c.(895-897)Cgt>Agt	p.R299S		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCCATCTGTCGTGAGTGCAC	0.592													6	409	---	---	---	---	0	0
GOLGA4	2803	broad.mit.edu	37	3	37323637	37323637	+	Silent	SNP	C	C	A	rs150573420		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:37323637C>A	ENST00000361924.2	+	3	725	c.351C>A	c.(349-351)ccC>ccA	p.P117P	GOLGA4_ENST00000444882.1_Silent_p.P117P|GOLGA4_ENST00000356847.4_Silent_p.P139P|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	117					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTGATCCACCCTCTGATATGG	0.448													6	128	---	---	---	---	0	0
ACAA1	30	broad.mit.edu	37	3	38164548	38164548	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:38164548G>T	ENST00000333167.8	-	12	1437	c.1265C>A	c.(1264-1266)cCt>cAt	p.P422H	ACAA1_ENST00000301810.7_Missense_Mutation_p.P329H|ACAA1_ENST00000480865.1_5'UTR|DLEC1_ENST00000308059.6_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.P381H	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	422					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TCAGTTCCCAGGGTATTCAAA	0.542													6	110	---	---	---	---	0	0
CCR2	729230	broad.mit.edu	37	3	46399335	46399335	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:46399335G>T	ENST00000292301.4	+	2	802	c.317G>T	c.(316-318)tGg>tTg	p.W106L	CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.W106L|CCR2_ENST00000400888.2_Missense_Mutation_p.W106L	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	106					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GCAAATGAGTGGGTCTTTGGG	0.443													8	439	---	---	---	---	0	0
SETD2	29072	broad.mit.edu	37	3	47163303	47163303	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:47163303C>A	ENST00000409792.3	-	3	2865	c.2823G>T	c.(2821-2823)aaG>aaT	p.K941N		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAGCAAATCCCTTTCCTGAAT	0.408			"""N, F, S, Mis"""		clear cell renal carcinoma								6	145	---	---	---	---	0	0
COL7A1	1294	broad.mit.edu	37	3	48612668	48612668	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:48612668C>A	ENST00000328333.8	-	74	6295	c.6188G>T	c.(6187-6189)cGg>cTg	p.R2063L	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2031L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2063	Triple-helical region.		R -> W (in HS-DEB; also in a mild form).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.R2063Q(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTCTCTCCCCGTTCTCCCTG	0.632													6	149	---	---	---	---	0	0
TEX264	51368	broad.mit.edu	37	3	51733489	51733489	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:51733489C>A	ENST00000415259.1	+	4	1629	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TEX264_ENST00000341333.5_Missense_Mutation_p.P183Q|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000395057.1_Missense_Mutation_p.P183Q|TEX264_ENST00000457573.1_Missense_Mutation_p.P183Q|TEX264_ENST00000416589.1_Missense_Mutation_p.P183Q			Q9Y6I9	TX264_HUMAN	testis expressed 264	183						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TTCATGTGCCCACTGGCACGG	0.557													7	168	---	---	---	---	0	0
LINC00696	0	broad.mit.edu	37	3	52097350	52097350	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:52097350C>A	ENST00000541313.1	-	1	217	c.218G>T	c.(217-219)tGg>tTg	p.W73L																								TAATCCATCCCAGTACTCAAT	0.542													6	137	---	---	---	---	0	0
NISCH	11188	broad.mit.edu	37	3	52526356	52526356	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:52526356C>A	ENST00000345716.4	+	21	4507	c.4373C>A	c.(4372-4374)cCg>cAg	p.P1458Q	NISCH_ENST00000479054.1_Missense_Mutation_p.P1458Q	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1458					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCAGGTGGCCCGGCTAGAGCC	0.627													7	292	---	---	---	---	0	0
PTPRG	5793	broad.mit.edu	37	3	62142882	62142882	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:62142882C>A	ENST00000474889.1	+	7	1201	c.824C>A	c.(823-825)cCc>cAc	p.P275H	PTPRG_ENST00000295874.10_Missense_Mutation_p.P275H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	275	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGACCCGTCCCCATCTCTTAC	0.483													5	77	---	---	---	---	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433778	73433778	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:73433778G>T	ENST00000263666.4	-	10	2053	c.1939C>A	c.(1939-1941)Cgc>Agc	p.R647S	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	647							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGAGCTCGCGGAAGCGCTCG	0.662													5	114	---	---	---	---	0	0
PDZRN3	23024	broad.mit.edu	37	3	73440205	73440205	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:73440205C>A	ENST00000263666.4	-	6	1431	c.1317G>T	c.(1315-1317)acG>acT	p.T439T	PDZRN3_ENST00000535920.1_Silent_p.T161T|PDZRN3_ENST00000466780.1_Silent_p.T96T|PDZRN3_ENST00000462146.2_Silent_p.T96T|PDZRN3_ENST00000479530.1_Silent_p.T156T|PDZRN3_ENST00000466348.1_5'UTR	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	439	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTTCATCGTCCGTCCGGTAGC	0.448													7	375	---	---	---	---	0	0
CNTN3	5067	broad.mit.edu	37	3	74414719	74414719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:74414719C>A	ENST00000263665.6	-	8	1108	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	361	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCTTACCTCTAGCACCAGG	0.498													8	316	---	---	---	---	0	0
ROBO2	6092	broad.mit.edu	37	3	77614158	77614158	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:77614158T>A	ENST00000461745.1	+	12	2636	c.1736T>A	c.(1735-1737)cTc>cAc	p.L579H	ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H|ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	579	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGACCACCCTCTATACTGTA	0.463													33	44	---	---	---	---	0	0
TOPBP1	11073	broad.mit.edu	37	3	133342926	133342926	+	Silent	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:133342926T>C	ENST00000260810.5	-	17	3029	c.2898A>G	c.(2896-2898)gtA>gtG	p.V966V		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	966	BRCT 6.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAACAATGTGTACTCCTCTTT	0.383								Other conserved DNA damage response genes					21	43	---	---	---	---	0	0
ZIC1	7545	broad.mit.edu	37	3	147128330	147128330	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:147128330C>A	ENST00000282928.4	+	1	1160	c.431C>A	c.(430-432)cCc>cAc	p.P144H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	144					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTCCTCTTCCCCGGGCTTCAC	0.721													4	20	---	---	---	---	0	0
PLCH1	23007	broad.mit.edu	37	3	155200582	155200582	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:155200582G>T	ENST00000460012.1	-	23	3500	c.3143C>A	c.(3142-3144)cCa>cAa	p.P1048Q	PLCH1_ENST00000334686.6_Missense_Mutation_p.P1048Q|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1048Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1086Q|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1086					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGCTGCTTTGGGGAGAGAGA	0.512													7	221	---	---	---	---	0	0
LXN	56925	broad.mit.edu	37	3	158390192	158390192	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:158390192C>A	ENST00000264265.3	-	1	290	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron|GFM1_ENST00000486715.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	26						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCGGGGTCCCCTGCTGGTAG	0.592											OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	129	---	---	---	---	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189620	167189620	+	Translation_Start_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:167189620C>A	ENST00000476257.1	-	3	301	c.3G>T	c.(1-3)atG>atT	p.M1I	SERPINI2_ENST00000461846.1_Start_Codon_SNP_p.M1I|SERPINI2_ENST00000471111.1_Start_Codon_SNP_p.M1I|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000264677.4_Start_Codon_SNP_p.M1I			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	1					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGATTGTGTCCATTTTGACTT	0.343													6	222	---	---	---	---	0	0
NCEH1	57552	broad.mit.edu	37	3	172428830	172428830	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:172428830C>A	ENST00000538775.1	-	1	178	c.41G>T	c.(40-42)cGg>cTg	p.R14L	NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000475381.1_5'UTR|NCEH1_ENST00000273512.3_Missense_Mutation_p.R14L	NM_001146276.1	NP_001139748.1	Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	0					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CGATACCACCCGGAGACCTCC	0.642											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	71	---	---	---	---	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182679102	182679102	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:182679102C>A	ENST00000292782.4	-	4	585	c.432G>T	c.(430-432)atG>atT	p.M144I	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.M129I	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	144	DCUN1.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATTCTTGTTCCATCTTGGGTA	0.303													10	634	---	---	---	---	0	0
DVL3	1857	broad.mit.edu	37	3	183887886	183887886	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:183887886C>A	ENST00000313143.3	+	14	1839	c.1591C>A	c.(1591-1593)Cct>Act	p.P531T	DVL3_ENST00000431765.1_Missense_Mutation_p.P514T|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	531					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGCCGCCCCTTGGCCCAT	0.682													5	63	---	---	---	---	0	0
EHHADH	1962	broad.mit.edu	37	3	184910074	184910074	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:184910074C>A	ENST00000231887.3	-	7	2187	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H	EHHADH_ENST00000456310.1_Missense_Mutation_p.Q608H	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	704						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.Q704H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GAGGGTTTCCCTGAGAAGCCA	0.463													6	101	---	---	---	---	0	0
EHHADH	1962	broad.mit.edu	37	3	184922358	184922358	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:184922358C>A	ENST00000231887.3	-	6	831	c.756G>T	c.(754-756)gaG>gaT	p.E252D	EHHADH_ENST00000456310.1_Missense_Mutation_p.E156D	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	252	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	ACAGCTCCTCCTCCTTCTTGA	0.527													7	244	---	---	---	---	0	0
EVC2	132884	broad.mit.edu	37	4	5687153	5687153	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:5687153C>A	ENST00000310917.2	-	6	1251	c.520G>T	c.(520-522)Ggg>Tgg	p.G174W	EVC2_ENST00000344938.1_Missense_Mutation_p.G254W|EVC2_ENST00000344408.5_Missense_Mutation_p.G254W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	254						integral to membrane		p.G254W(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCCCGTTCCCGAGGTCTCCA	0.572													4	111	---	---	---	---	0	0
DCAF16	54876	broad.mit.edu	37	4	17805633	17805633	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:17805633G>T	ENST00000382247.1	-	3	1192	c.132C>A	c.(130-132)ccC>ccA	p.P44P	DCAF16_ENST00000536863.1_Silent_p.P44P	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	44						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GCGATAAGTTGGGCACCATAG	0.408													5	104	---	---	---	---	0	0
CCKAR	886	broad.mit.edu	37	4	26491107	26491107	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:26491107C>A	ENST00000295589.3	-	2	307		c.e2-1			NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GGCTGCCACTCTGCAGAGAGA	0.547													5	75	---	---	---	---	0	0
KDR	3791	broad.mit.edu	37	4	55974046	55974046	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:55974046C>A	ENST00000263923.4	-	10	1565	c.1270G>T	c.(1270-1272)Ggt>Tgt	p.G424C		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	424	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GATTTCTCACCAATCTGGGGT	0.453			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	88	---	---	---	---	0	0
REST	5978	broad.mit.edu	37	4	57797468	57797468	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:57797468C>A	ENST00000309042.7	+	4	2758	c.2444C>A	c.(2443-2445)cCt>cAt	p.P815H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	815	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAAAGCCTCCTCTCCGAAAA	0.507													7	199	---	---	---	---	0	0
PROL1	58503	broad.mit.edu	37	4	71275452	71275452	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:71275452C>A	ENST00000399575.2	+	3	581	c.407C>A	c.(406-408)cCt>cAt	p.P136H	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	136	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ATTTACCTTCCTATCTCTAAC	0.438													7	110	---	---	---	---	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73169752	73169752	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:73169752C>A	ENST00000286657.4	-	17	2342	c.2306G>T	c.(2305-2307)gGg>gTg	p.G769V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	769	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCTTCCTCCCCTTTGCCATT	0.388													8	235	---	---	---	---	0	0
AGPAT9	84803	broad.mit.edu	37	4	84502812	84502812	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:84502812G>T	ENST00000395226.2	+	4	524	c.306G>T	c.(304-306)aaG>aaT	p.K102N	AGPAT9_ENST00000264409.4_Missense_Mutation_p.K102N	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	102					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TCTCCAAGAAGGGATTGGAAG	0.443													6	152	---	---	---	---	0	0
WDFY3	23001	broad.mit.edu	37	4	85605227	85605227	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:85605227C>A	ENST00000322366.6	-	62	9951	c.9544G>T	c.(9544-9546)Ggg>Tgg	p.G3182W	WDFY3_ENST00000295888.4_Missense_Mutation_p.G3199W			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3199						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATAGGGTTCCCATTGATGCTC	0.502													5	83	---	---	---	---	0	0
AFF1	4299	broad.mit.edu	37	4	88055651	88055651	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:88055651C>A	ENST00000307808.6	+	19	3736	c.3316C>A	c.(3316-3318)Cca>Aca	p.P1106T	AFF1_ENST00000395146.4_Missense_Mutation_p.P1114T|AFF1_ENST00000544085.1_Missense_Mutation_p.P745T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1106						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCTCTTTCCCCAATGCCTTC	0.567													9	424	---	---	---	---	0	0
NFKB1	4790	broad.mit.edu	37	4	103528375	103528375	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:103528375G>T	ENST00000226574.4	+	18	2490	c.2023G>T	c.(2023-2025)Ggg>Tgg	p.G675W	NFKB1_ENST00000505458.1_Missense_Mutation_p.G674W|NFKB1_ENST00000600343.1_Missense_Mutation_p.G494W|NFKB1_ENST00000394820.4_Missense_Mutation_p.G674W	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	674	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GGTGGCCGCTGGGGCTGACGT	0.572													6	111	---	---	---	---	0	0
C4orf21	55345	broad.mit.edu	37	4	113510868	113510868	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:113510868G>T	ENST00000309071.5	-	11	3264	c.3139C>A	c.(3139-3141)Cac>Aac	p.H1047N	C4orf21_ENST00000505019.1_Intron			Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	1047										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGAGCAATGTGGTAACGACTA	0.348													6	58	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126372476	126372476	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:126372476C>A	ENST00000394329.3	+	9	10318	c.10305C>A	c.(10303-10305)ccC>ccA	p.P3435P	FAT4_ENST00000335110.5_Silent_p.P1733P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3435	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTCCATCCCCAGCTGGAGCA	0.453													7	144	---	---	---	---	0	0
MAML3	55534	broad.mit.edu	37	4	140641195	140641195	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:140641195G>T	ENST00000509479.2	-	5	3555	c.2699C>A	c.(2698-2700)cCg>cAg	p.P900Q	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	896	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGGTTGCCTCGGTCCCTGGGC	0.522													7	414	---	---	---	---	0	0
LRBA	987	broad.mit.edu	37	4	151356741	151356741	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:151356741C>A	ENST00000535741.1	-	46	7514	c.7041G>T	c.(7039-7041)aaG>aaT	p.K2347N	LRBA_ENST00000357115.3_Splice_Site_p.K2358N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Splice_Site_p.K2347N|LRBA_ENST00000510413.1_Splice_Site_p.K2347N			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2358	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTTCTGTACCTTAATATCAG	0.358													7	139	---	---	---	---	0	0
TENM3	55714	broad.mit.edu	37	4	183522255	183522255	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:183522255C>A	ENST00000511685.1	+	4	813	c.690C>A	c.(688-690)ccC>ccA	p.P230P	TENM3_ENST00000406950.2_Silent_p.P230P					teneurin transmembrane protein 3																		AAACCACACCCGAGTCCGTCC	0.527													5	146	---	---	---	---	0	0
C5orf55	116349	broad.mit.edu	37	5	442821	442821	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:442821C>A	ENST00000408966.2	-	1	437	c.117G>T	c.(115-117)gcG>gcT	p.A39A		NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	39						extracellular region				large_intestine(1)|lung(2)	3						CAACCTTCTCCGCTTTGGTTT	0.602													7	246	---	---	---	---	0	0
IRX4	50805	broad.mit.edu	37	5	1879725	1879725	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:1879725G>T	ENST00000505790.1	-	5	1085	c.629C>A	c.(628-630)cCg>cAg	p.P210Q	IRX4_ENST00000231357.2_Missense_Mutation_p.P210Q|IRX4_ENST00000513692.1_Missense_Mutation_p.P210Q|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	210					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CTTGTTCCGCGGCGGCCACGT	0.662													4	55	---	---	---	---	0	0
CDH12	1010	broad.mit.edu	37	5	21751918	21751918	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:21751918C>A	ENST00000382254.1	-	15	3399	c.2313G>T	c.(2311-2313)tgG>tgT	p.W771C	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.W731C|CDH12_ENST00000504376.2_Missense_Mutation_p.W771C|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	771					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGCGGGGTCCCCAGTCTGTCA	0.502										HNSCC(59;0.17)			6	117	---	---	---	---	0	0
CDH12	1010	broad.mit.edu	37	5	22078761	22078761	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:22078761G>T	ENST00000382254.1	-	5	1111	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	CDH12_ENST00000522262.1_Missense_Mutation_p.L9M|CDH12_ENST00000504376.2_Missense_Mutation_p.L9M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	9					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L9M(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAGAGAAGCAGGGATAAACAG	0.438										HNSCC(59;0.17)			7	176	---	---	---	---	0	0
PDZD2	23037	broad.mit.edu	37	5	32087269	32087269	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:32087269C>A	ENST00000438447.1	+	20	4103	c.3715C>A	c.(3715-3717)Cca>Aca	p.P1239T	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1239T			O15018	PDZD2_HUMAN	PDZ domain containing 2	1239					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CATCTCTTCCCCAGGGAAGAA	0.552													6	122	---	---	---	---	0	0
RAI14	26064	broad.mit.edu	37	5	34823167	34823167	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:34823167C>A	ENST00000265109.3	+	15	1507	c.1220C>A	c.(1219-1221)cCa>cAa	p.P407Q	RAI14_ENST00000512629.1_Missense_Mutation_p.P378Q|RAI14_ENST00000397449.1_Missense_Mutation_p.P400Q|RAI14_ENST00000506376.1_Missense_Mutation_p.P399Q|RAI14_ENST00000428746.2_Missense_Mutation_p.P407Q|RAI14_ENST00000515799.1_Missense_Mutation_p.P410Q|RAI14_ENST00000503673.1_Missense_Mutation_p.P407Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	407						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACCTCTCCCCCAGACTCCAAA	0.458													5	78	---	---	---	---	0	0
NSA2	10412	broad.mit.edu	37	5	74066519	74066519	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:74066519A>C	ENST00000296802.5	+	4	775	c.406A>C	c.(406-408)Att>Ctt	p.I136L	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	136	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ATTAAAAGTTATTCGAACAGG	0.368													22	59	---	---	---	---	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408628	80408628	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:80408628G>T	ENST00000265080.4	+	14	2105	c.2038G>T	c.(2038-2040)Ggg>Tgg	p.G680W		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	680	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGTGGTGCTGGGGAAACTCTC	0.488													7	132	---	---	---	---	0	0
GPR98	84059	broad.mit.edu	37	5	90024597	90024597	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:90024597C>A	ENST00000405460.2	+	49	10369	c.10273C>A	c.(10273-10275)Cag>Aag	p.Q3425K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3425					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCCATTTCCCAGGCTAATGC	0.498													5	116	---	---	---	---	0	0
MAN2A1	4124	broad.mit.edu	37	5	109159447	109159447	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:109159447C>A	ENST00000261483.4	+	16	3527	c.2475C>A	c.(2473-2475)ccC>ccA	p.P825P		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	825					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CAACACCGCCCTTTGTCAGAG	0.328													6	91	---	---	---	---	0	0
DCP2	167227	broad.mit.edu	37	5	112337354	112337354	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:112337354C>A	ENST00000389063.2	+	7	987	c.789C>A	c.(787-789)ccC>ccA	p.P263P	DCP2_ENST00000543319.1_Silent_p.P52P|DCP2_ENST00000515408.1_Silent_p.P263P	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	263					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CGGCTAAACCCACTGTGGAAA	0.383													6	236	---	---	---	---	0	0
FBN2	2201	broad.mit.edu	37	5	127648420	127648420	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:127648420G>T	ENST00000508053.1	-	43	5759	c.4785C>A	c.(4783-4785)acC>acA	p.T1595T	FBN2_ENST00000262464.4_Silent_p.T1595T			P35556	FBN2_HUMAN	fibrillin 2	1595	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T1595T(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCCGATCTCGGTGTTGCAAG	0.562													8	314	---	---	---	---	0	0
H2AFY	9555	broad.mit.edu	37	5	134705107	134705107	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:134705107G>T	ENST00000511689.1	-	4	1059	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	H2AFY_ENST00000312469.4_Silent_p.R156R|H2AFY_ENST00000510038.1_Silent_p.R156R|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000304332.4_Silent_p.R156R	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	156	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGGATTTCCGGGCCCCTTTC	0.517													7	396	---	---	---	---	0	0
BRD8	10902	broad.mit.edu	37	5	137495792	137495792	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:137495792C>A	ENST00000254900.5	-	19	2869	c.2498G>T	c.(2497-2499)aGa>aTa	p.R833I	BRD8_ENST00000455658.2_Missense_Mutation_p.R792I|BRD8_ENST00000402931.1_Missense_Mutation_p.R833I|BRD8_ENST00000411594.2_Missense_Mutation_p.R836I|BRD8_ENST00000230901.5_Missense_Mutation_p.R906I	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	833					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGAATCTCTCCCTCGAAG	0.498													7	164	---	---	---	---	0	0
DNAJC18	202052	broad.mit.edu	37	5	138755831	138755831	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:138755831C>A	ENST00000302060.5	-	7	943	c.863G>T	c.(862-864)aGa>aTa	p.R288I		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	288					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAAGCTCCTCTGTAGGCCTT	0.413													6	103	---	---	---	---	0	0
PCDHB3	0	broad.mit.edu	37	5	140481720	140481720	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:140481720C>A	ENST00000231130.2	+	1	1487	c.1487C>A	c.(1486-1488)cCg>cAg	p.P496Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		496	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCAGGACCCGCACCTGCCC	0.647													6	174	---	---	---	---	0	0
PCDHGA12	0	broad.mit.edu	37	5	140812030	140812030	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:140812030C>A	ENST00000252085.3	+	1	1846	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCCTCCCCACGGACGGTT	0.677													8	215	---	---	---	---	0	0
DPYSL3	1809	broad.mit.edu	37	5	146798139	146798139	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:146798139C>A	ENST00000343218.5	-	3	723	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	DPYSL3_ENST00000398514.3_Missense_Mutation_p.G62W|DPYSL3_ENST00000534907.1_Intron	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	62					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCATCTTCCCATTGGCTTCA	0.433													7	228	---	---	---	---	0	0
HAVCR2	84868	broad.mit.edu	37	5	156514274	156514274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:156514274C>A	ENST00000307851.4	-	7	1475	c.745G>T	c.(745-747)Gga>Tga	p.G249*	HAVCR2_ENST00000522593.1_Nonsense_Mutation_p.G221*	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	249						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTGCCAATCCTGAGGGAGGG	0.433													5	74	---	---	---	---	0	0
ITK	3702	broad.mit.edu	37	5	156638318	156638318	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:156638318C>A	ENST00000422843.3	+	3	416	c.264C>A	c.(262-264)ctC>ctA	p.L88L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	88	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAACTACCTCCTATATGTGT	0.507			T	SYK	peripheral T-cell lymphoma								7	148	---	---	---	---	0	0
BTNL3	10917	broad.mit.edu	37	5	180432842	180432842	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:180432842C>A	ENST00000342868.6	+	8	1555	c.1371C>A	c.(1369-1371)ccC>ccA	p.P457P		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	457	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGGGGACTCCCATATTCATAT	0.512													4	28	---	---	---	---	0	0
DSP	1832	broad.mit.edu	37	6	7542219	7542219	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:7542219C>A	ENST00000379802.3	+	1	412	c.71C>A	c.(70-72)cCg>cAg	p.P24Q	DSP_ENST00000418664.2_Missense_Mutation_p.P24Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	24	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGTCTGGCCCGGACCTGCGC	0.682													3	12	---	---	---	---	0	0
RBM24	221662	broad.mit.edu	37	6	17292081	17292081	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:17292081C>A	ENST00000379052.5	+	4	678	c.442C>A	c.(442-444)Cct>Act	p.P148T	RBM24_ENST00000318204.5_Missense_Mutation_p.P103T|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.P90T	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	148	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	p.P103T(2)|p.P148T(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CTCCACCACCCCTTACATTGA	0.592													7	194	---	---	---	---	0	0
MDC1	9656	broad.mit.edu	37	6	30675940	30675940	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:30675940C>A	ENST00000376406.3	-	8	3063	c.2416G>T	c.(2416-2418)Ggg>Tgg	p.G806W	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	806				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.G806W(1)		breast(2)|kidney(1)|ovary(1)	4						GTCTGCCTCCCTCTGCCTTGA	0.532								Other conserved DNA damage response genes					8	222	---	---	---	---	0	0
CCHCR1	54535	broad.mit.edu	37	6	31118575	31118575	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31118575C>A	ENST00000396268.3	-	6	1216	c.1028G>T	c.(1027-1029)gGg>gTg	p.G343V	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Missense_Mutation_p.G254V|CCHCR1_ENST00000396263.2_Missense_Mutation_p.G254V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.G307V	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	254					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CACTTGTTCCCCAACATATTT	0.537													10	345	---	---	---	---	0	0
LTA	4049	broad.mit.edu	37	6	31541429	31541429	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31541429C>A	ENST00000454783.1	+	4	835	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	LTA_ENST00000418386.2_Missense_Mutation_p.L193I	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	193					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCACCTAGTCCTCAGCCCTAG	0.522													8	207	---	---	---	---	0	0
HSPA1A	3303	broad.mit.edu	37	6	31785376	31785376	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31785376G>T	ENST00000375651.5	+	1	2086	c.1843G>T	c.(1843-1845)Ggt>Tgt	p.G615C	HSPA1A_ENST00000608703.1_Missense_Mutation_p.G450C|HSPA1A_ENST00000458062.2_Missense_Mutation_p.G524C	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	615					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						CCAGGGTGCCGGTGGTCCCGG	0.622													5	114	---	---	---	---	0	0
NOTCH4	4855	broad.mit.edu	37	6	32164199	32164199	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:32164199C>A	ENST00000375023.3	-	29	5339		c.e29-1		NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4						cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCAGTTTTCCCTAGGGGACGA	0.657													6	110	---	---	---	---	0	0
RPS10-NUDT3	0	broad.mit.edu	37	6	34389548	34389548	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:34389548C>A	ENST00000605528.1	-	4	375	c.359G>T	c.(358-360)gGg>gTg	p.G120V	RPS10_ENST00000344700.3_Missense_Mutation_p.G120V|RPS10_ENST00000326199.8_Missense_Mutation_p.G120V|RPS10_ENST00000494077.1_5'UTR	NM_001202470.2	NP_001189399.1																					GTCAGCTTCCCCTCTTGTGAG	0.498													8	331	---	---	---	---	0	0
SCUBE3	222663	broad.mit.edu	37	6	35213840	35213840	+	Missense_Mutation	SNP	C	C	A	rs142335824		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:35213840C>A	ENST00000274938.7	+	20	2719	c.2719C>A	c.(2719-2721)Cgt>Agt	p.R907S	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R923S	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	907	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CAACAGCGCCCGTGGCTTCCA	0.542													6	169	---	---	---	---	0	0
STK38	11329	broad.mit.edu	37	6	36467677	36467677	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:36467677C>A	ENST00000229812.7	-	10	1210	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	309	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGATCACCCCAAGCGACCAC	0.478													6	126	---	---	---	---	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986383	42986383	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:42986383G>T	ENST00000326974.4	+	7	941	c.746G>T	c.(745-747)gGg>gTg	p.G249V	KLHDC3_ENST00000332245.8_Missense_Mutation_p.G190V|KLHDC3_ENST00000244670.8_Missense_Mutation_p.G115V	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	249					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCTACAATGGGGAGCTGTAC	0.512													9	336	---	---	---	---	0	0
DST	667	broad.mit.edu	37	6	56483809	56483809	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:56483809G>T	ENST00000370765.6	-	23	5130	c.5023C>A	c.(5023-5025)Cag>Aag	p.Q1675K	DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1035					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGGTATTCTGGATGATAATG	0.383													6	154	---	---	---	---	0	0
BAI3	577	broad.mit.edu	37	6	69703722	69703722	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:69703722C>A	ENST00000370598.1	+	11	2618	c.1797C>A	c.(1795-1797)acC>acA	p.T599T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	599					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCCAGGTGACCAAGACACTGT	0.438													7	281	---	---	---	---	0	0
MDN1	23195	broad.mit.edu	37	6	90383966	90383966	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:90383966G>T	ENST00000369393.3	-	79	13219	c.13104C>A	c.(13102-13104)ccC>ccA	p.P4368P	MDN1_ENST00000428876.1_Silent_p.P4368P|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4368					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCAACCAGAGGGCAGCTGAC	0.473													5	60	---	---	---	---	0	0
EPHA7	2045	broad.mit.edu	37	6	93982058	93982058	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:93982058G>T	ENST00000369303.4	-	6	1591	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	469	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGACTCCATTGGGATGCTCTG	0.458													6	184	---	---	---	---	0	0
FAXC	84553	broad.mit.edu	37	6	99729207	99729207	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:99729207G>T	ENST00000389677.5	-	6	1345	c.1063C>A	c.(1063-1065)Cac>Aac	p.H355N	FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.H75N	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	355																	AGCGGGGTGTGGGTTTTGCTG	0.473													5	74	---	---	---	---	0	0
RFX6	222546	broad.mit.edu	37	6	117250126	117250126	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:117250126C>A	ENST00000332958.2	+	18	2619	c.2603C>A	c.(2602-2604)cCa>cAa	p.P868Q		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	868					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTCGAACTCCAGTCCTAGGT	0.393													5	82	---	---	---	---	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588180	118588180	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:118588180C>A	ENST00000360388.4	+	4	701	c.500C>A	c.(499-501)cCa>cAa	p.P167Q		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	167					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTTGTGATCCCAGTCGTGATT	0.483													9	354	---	---	---	---	0	0
FAM184A	79632	broad.mit.edu	37	6	119345262	119345262	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:119345262C>A	ENST00000338891.7	-	2	1319	c.876G>T	c.(874-876)caG>caT	p.Q292H	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q292H|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q172H|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q172H|FAM184A_ENST00000352896.5_Missense_Mutation_p.Q172H	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	292										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTCTTGTCCCTGAAATTCTT	0.383													6	150	---	---	---	---	0	0
CLVS2	134829	broad.mit.edu	37	6	123319157	123319157	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:123319157C>A	ENST00000275162.5	+	2	1570	c.235C>A	c.(235-237)Cgg>Agg	p.R79R	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTTTGAGTACCGGCAGCAGAA	0.557													5	154	---	---	---	---	0	0
ENPP1	5167	broad.mit.edu	37	6	132182820	132182820	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:132182820C>A	ENST00000360971.2	+	9	1021	c.1001C>A	c.(1000-1002)cCa>cAa	p.P334Q		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	334	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GGAATTTTCCCAGACATCTAT	0.353													5	96	---	---	---	---	0	0
SGK1	6446	broad.mit.edu	37	6	134493334	134493334	+	Silent	SNP	C	C	A	rs139370799	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:134493334C>A	ENST00000367858.5	-	10	1665	c.1068G>T	c.(1066-1068)ccG>ccT	p.P356P	SGK1_ENST00000367857.5_Silent_p.P251P|SGK1_ENST00000413996.3_Silent_p.P275P|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Silent_p.P217P|SGK1_ENST00000528577.1_Silent_p.P289P|SGK1_ENST00000237305.7_Silent_p.P261P	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	261	AGC-kinase C-terminal.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CGCCTACCTCCGGCGTGCCAC	0.483													5	206	---	---	---	---	0	0
OLIG3	167826	broad.mit.edu	37	6	137815150	137815150	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:137815150C>A	ENST00000367734.2	-	1	381	c.158G>T	c.(157-159)gGg>gTg	p.G53V		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GAGGCTTTCCCCGGGCATCTT	0.617													7	139	---	---	---	---	0	0
TULP4	56995	broad.mit.edu	37	6	158873275	158873275	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:158873275C>A	ENST00000367097.3	+	5	2191	c.834C>A	c.(832-834)ccC>ccA	p.P278P	TULP4_ENST00000367094.2_Silent_p.P278P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	278					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACTTGTCTCCCACGGTCATCC	0.552													5	63	---	---	---	---	0	0
PDE10A	10846	broad.mit.edu	37	6	165832169	165832169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:165832169C>A	ENST00000366882.1	-	12	1076	c.922G>T	c.(922-924)Gag>Tag	p.E308*	PDE10A_ENST00000354448.4_Nonsense_Mutation_p.E308*|PDE10A_ENST00000539869.2_Nonsense_Mutation_p.E318*			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	308	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCCTTTTCCTCTCCAATATCA	0.418													5	70	---	---	---	---	0	0
C6orf120	387263	broad.mit.edu	37	6	170102663	170102663	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:170102663C>A	ENST00000332290.2	+	1	407	c.108C>A	c.(106-108)ccC>ccA	p.P36P	C6orf120_ENST00000439249.1_Silent_p.P55P	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	36						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		AGGAGGTCCCCGAGGAGTGGG	0.692													4	34	---	---	---	---	0	0
NUDT1	4521	broad.mit.edu	37	7	2289565	2289565	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:2289565G>T	ENST00000397049.1	+	4	397	c.295G>T	c.(295-297)Ggc>Tgc	p.G99C	NUDT1_ENST00000343985.4_Missense_Mutation_p.G99C|NUDT1_ENST00000397048.1_Missense_Mutation_p.G99C|NUDT1_ENST00000356714.1_Missense_Mutation_p.G76C|NUDT1_ENST00000397046.1_Missense_Mutation_p.G76C|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000339737.2_Missense_Mutation_p.G76C	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	117	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		TGAGTTCGTGGGCGAGCCTGA	0.657								Modulation of nucleotide pools					6	119	---	---	---	---	0	0
FOXK1	221937	broad.mit.edu	37	7	4780549	4780549	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:4780549C>A	ENST00000328914.4	+	2	641	c.641C>A	c.(640-642)cCg>cAg	p.P214Q	FOXK1_ENST00000446823.1_Missense_Mutation_p.P51Q	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	214					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P40L(1)|p.P214L(1)|p.P40Q(1)|p.P214Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCAGCCTCCCCGCTGCGGCCA	0.647													5	198	---	---	---	---	0	0
THSD7A	221981	broad.mit.edu	37	7	11675890	11675890	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:11675890G>T	ENST00000423059.4	-	2	1140	c.889C>A	c.(889-891)Cgc>Agc	p.R297S		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane		p.R297C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATAAGCTCGCGGGCTTCTGGA	0.463										HNSCC(18;0.044)			6	212	---	---	---	---	0	0
THSD7A	221981	broad.mit.edu	37	7	11676569	11676569	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:11676569C>A	ENST00000423059.4	-	2	461	c.210G>T	c.(208-210)atG>atT	p.M70I	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 1.					integral to membrane		p.M70I(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATTCATCTCCCATACATCGGC	0.463										HNSCC(18;0.044)			6	124	---	---	---	---	0	0
DNAH11	8701	broad.mit.edu	37	7	21932083	21932083	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:21932083C>A	ENST00000328843.6	+	78	12600	c.12569C>A	c.(12568-12570)cCa>cAa	p.P4190Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.P4183Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4190					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTGCTGCCCCACCCTACCTA	0.473									Kartagener syndrome				8	287	---	---	---	---	0	0
HOXA10	3206	broad.mit.edu	37	7	27211549	27211549	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:27211549C>A	ENST00000283921.4	-	2	1201	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	HOXA10_ENST00000396344.4_Missense_Mutation_p.R85L|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000465941.1_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	401					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TGTGAGCTCCCGGATCCGGTT	0.512													4	101	---	---	---	---	0	0
GPR141	353345	broad.mit.edu	37	7	37780690	37780690	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:37780690G>T	ENST00000447769.1	+	4	984	c.695G>T	c.(694-696)gGg>gTg	p.G232V	GPR141_ENST00000334425.1_Missense_Mutation_p.G232V|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	232						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTTTTATAGGGGTCATCCTT	0.418													7	190	---	---	---	---	0	0
C7orf10	79783	broad.mit.edu	37	7	40789094	40789094	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:40789094C>A	ENST00000309930.5	+	14	1274	c.1250C>A	c.(1249-1251)cCa>cAa	p.P417Q	C7orf10_ENST00000401647.2_Missense_Mutation_p.P343Q|C7orf10_ENST00000335693.4_Missense_Mutation_p.P391Q	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	391							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATTTCCGTCCCAGGTCTGAAA	0.388													8	153	---	---	---	---	0	0
DDX56	54606	broad.mit.edu	37	7	44612250	44612250	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:44612250G>T	ENST00000258772.5	-	4	583	c.477C>A	c.(475-477)tcC>tcA	p.S159S	DDX56_ENST00000431640.1_Silent_p.S159S|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	159	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AAAGCTCCAGGGAGTCACGAA	0.512													7	173	---	---	---	---	0	0
ELN	2006	broad.mit.edu	37	7	73474269	73474269	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:73474269G>T	ENST00000252034.7	+	23	1867	c.1468G>T	c.(1468-1470)Ggt>Tgt	p.G490C	ELN_ENST00000320399.6_Missense_Mutation_p.G490C|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Missense_Mutation_p.G490C|ELN_ENST00000380553.4_Missense_Mutation_p.G354C|ELN_ENST00000380562.4_Missense_Mutation_p.G496C|ELN_ENST00000357036.5_Missense_Mutation_p.G495C|ELN_ENST00000414324.1_Missense_Mutation_p.G466C|ELN_ENST00000380576.5_Missense_Mutation_p.G471C|ELN_ENST00000358929.4_Missense_Mutation_p.G525C|ELN_ENST00000429192.1_Missense_Mutation_p.G476C|ELN_ENST00000380584.4_Missense_Mutation_p.G457C|ELN_ENST00000458204.1_Missense_Mutation_p.G480C|ELN_ENST00000380575.4_Missense_Mutation_p.G461C|ELN_ENST00000320492.7_Missense_Mutation_p.G409C	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	519	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCTGGTGTCGGTGTGGCTCC	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						8	283	---	---	---	---	0	0
GTF2I	2969	broad.mit.edu	37	7	74105415	74105415	+	Missense_Mutation	SNP	G	G	T	rs146598910	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:74105415G>T	ENST00000324896.4	+	3	599	c.210G>T	c.(208-210)aaG>aaT	p.K70N	GTF2I_ENST00000416070.1_Missense_Mutation_p.K70N|GTF2I_ENST00000353920.4_Missense_Mutation_p.K70N|GTF2I_ENST00000346152.4_Missense_Mutation_p.K70N|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.K70N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	70					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ATACCAGAAAGGATTTTCAAA	0.348													7	97	---	---	---	---	0	0
HIP1	3092	broad.mit.edu	37	7	75168701	75168701	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:75168701C>A	ENST00000336926.6	-	30	3029	c.3003G>T	c.(3001-3003)ctG>ctT	p.L1001L	HIP1_ENST00000434438.2_Silent_p.L950L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1001	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAAGCTCTCCCAGTTTTTGAC	0.488			T	PDGFRB	CMML								7	373	---	---	---	---	0	0
TRRAP	8295	broad.mit.edu	37	7	98569472	98569472	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:98569472C>A	ENST00000359863.4	+	52	7931	c.7722C>A	c.(7720-7722)ccC>ccA	p.P2574P	TRRAP_ENST00000355540.3_Silent_p.P2556P|TRRAP_ENST00000446306.3_Silent_p.P2556P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2574					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.P2574P(1)|p.P2556P(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGCACGCCCAAAACCAAAG	0.463													9	287	---	---	---	---	0	0
TAF6	6878	broad.mit.edu	37	7	99706102	99706102	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:99706102C>A	ENST00000344095.4	-	13	1871	c.1346G>T	c.(1345-1347)cGg>cTg	p.R449L	AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.R449L|TAF6_ENST00000452041.1_Missense_Mutation_p.R449L|TAF6_ENST00000418432.2_Missense_Mutation_p.R373L|TAF6_ENST00000472509.1_Missense_Mutation_p.R506L|TAF6_ENST00000437822.2_Missense_Mutation_p.R486L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	449					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATTCTGCCCGATAGGCGTC	0.612													5	143	---	---	---	---	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281209	100281209	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:100281209C>A	ENST00000275732.5	-	17	3225	c.2016G>T	c.(2014-2016)caG>caT	p.Q672H		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	672										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAATTGGACCCTGAGTCGAAG	0.607													7	192	---	---	---	---	0	0
CUX1	1523	broad.mit.edu	37	7	101559501	101559501	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:101559501C>A	ENST00000360264.3	+	2	190	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	CUX1_ENST00000549414.2_Missense_Mutation_p.P46Q|CUX1_ENST00000556210.1_Missense_Mutation_p.P46Q|CUX1_ENST00000550008.2_Missense_Mutation_p.P46Q|CUX1_ENST00000547394.2_Missense_Mutation_p.P57Q|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.P46Q|CUX1_ENST00000437600.4_Missense_Mutation_p.P57Q|CUX1_ENST00000292538.4_Missense_Mutation_p.P57Q|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P46Q|CUX1_ENST00000425244.2_Missense_Mutation_p.P57Q	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	46					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGAACACTCCAGAGGTGAGG	0.537													5	77	---	---	---	---	0	0
CBLL1	79872	broad.mit.edu	37	7	107399369	107399369	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:107399369C>A	ENST00000440859.3	+	6	1689	c.1222C>A	c.(1222-1224)Cca>Aca	p.P408T	CBLL1_ENST00000222597.2_Missense_Mutation_p.P407T	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase		Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AGGACCTCCCCCACCTCAACA	0.517													7	185	---	---	---	---	0	0
MET	0	broad.mit.edu	37	7	116339270	116339270	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:116339270C>A	ENST00000397752.3	+	2	332	c.132C>A	c.(130-132)ccC>ccA	p.P44P	MET_ENST00000436117.2_Silent_p.P44P|MET_ENST00000318493.6_Silent_p.P44P	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	44	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATCAGCTTCCCAACTTCACCG	0.448			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				6	102	---	---	---	---	0	0
ARF5	381	broad.mit.edu	37	7	127231036	127231036	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:127231036G>T	ENST00000000233.5	+	5	504	c.350G>T	c.(349-351)cGg>cTg	p.R117L	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	117					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GACGAGCTGCGGGATGCAGTG	0.582													6	147	---	---	---	---	0	0
FLNC	2318	broad.mit.edu	37	7	128481390	128481390	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:128481390C>A	ENST00000325888.8	+	12	2241	c.1980C>A	c.(1978-1980)ccC>ccA	p.P660P	FLNC_ENST00000346177.6_Silent_p.P660P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	660					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACATCCTGCCCGCCCCACCTG	0.632													6	198	---	---	---	---	0	0
BRAF	673	broad.mit.edu	37	7	140550013	140550013	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:140550013C>A	ENST00000288602.6	-	2	199		c.e2-1			NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B						activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TATTCCACACCTAAAAAATAT	0.313		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				6	167	---	---	---	---	0	0
OR2A5	393046	broad.mit.edu	37	7	143748279	143748279	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:143748279C>A	ENST00000408906.2	+	1	819	c.785C>A	c.(784-786)cCc>cAc	p.P262H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TACATGGCCCCCAAGTCCCGC	0.572													6	135	---	---	---	---	0	0
GBX1	2636	broad.mit.edu	37	7	150846192	150846192	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:150846192C>A	ENST00000297537.4	-	2	575	c.576G>T	c.(574-576)ctG>ctT	p.L192L		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	192						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGATGCCTCCAGCTTCTCCT	0.582													7	386	---	---	---	---	0	0
VIPR2	7434	broad.mit.edu	37	7	158851252	158851252	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:158851252C>A	ENST00000262178.2	-	5	560	c.375G>T	c.(373-375)ctG>ctT	p.L125L	VIPR2_ENST00000377633.3_Silent_p.L109L|VIPR2_ENST00000402066.1_Silent_p.L266L	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	125					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TGGCCTTCACCAGAATATAAA	0.443													5	138	---	---	---	---	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497602	1497602	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:1497602C>A	ENST00000421627.2	+	2	877	c.743C>A	c.(742-744)cCc>cAc	p.P248H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	327					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CACTGCTACCCCGACGCGCTG	0.672													7	149	---	---	---	---	0	0
CHRNA2	0	broad.mit.edu	37	8	27327369	27327369	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:27327369C>A	ENST00000407991.1	-	3	811	c.203G>T	c.(202-204)cGg>cTg	p.R68L	CHRNA2_ENST00000240132.2_Missense_Mutation_p.R68L|CHRNA2_ENST00000520933.2_Missense_Mutation_p.R68L	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	68						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R68Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GTTGTAGCCCCGGAAGAGGTG	0.632													5	107	---	---	---	---	0	0
CHD7	55636	broad.mit.edu	37	8	61765453	61765453	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:61765453C>A	ENST00000423902.2	+	31	6648	c.6169C>A	c.(6169-6171)Cgc>Agc	p.R2057S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2057					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AACTCTGTACCGCATTGAGCT	0.562													5	180	---	---	---	---	0	0
MCMDC2	157777	broad.mit.edu	37	8	67809086	67809086	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:67809086C>A	ENST00000422365.2	+	12	1689	c.1518C>A	c.(1516-1518)ccC>ccA	p.P506P	MCMDC2_ENST00000313616.5_Silent_p.P506P|MCMDC2_ENST00000541540.1_Silent_p.P443P|MCMDC2_ENST00000396592.3_Silent_p.P506P	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	506					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						AGTCATCTCCCTGCCACCCAT	0.423													7	236	---	---	---	---	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744881	70744881	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:70744881C>A	ENST00000260126.4	-	2	734	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G10W|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G10W	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTCCCGCCCCGGGCTGCAGT	0.617											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	98	---	---	---	---	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616633	77616633	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:77616633C>A	ENST00000521891.2	+	2	758	c.310C>A	c.(310-312)Cgc>Agc	p.R104S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R104S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R104S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R104S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R104S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCTAATGCCCGCCTTCCTGT	0.502										HNSCC(33;0.089)			5	229	---	---	---	---	0	0
ZNF704	619279	broad.mit.edu	37	8	81733633	81733633	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:81733633G>T	ENST00000327835.3	-	2	428	c.197C>A	c.(196-198)tCc>tAc	p.S66Y		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	66						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ATCAATGTTGGAGGAAACAAC	0.448													9	270	---	---	---	---	0	0
KIAA1429	25962	broad.mit.edu	37	8	95565623	95565623	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:95565623G>T	ENST00000297591.5	-	1	128	c.53C>A	c.(52-54)cCg>cAg	p.P18Q	KIAA1429_ENST00000437199.1_Missense_Mutation_p.P18Q|KIAA1429_ENST00000421249.2_Missense_Mutation_p.P18Q	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	18					mRNA processing|RNA splicing	nucleus		p.P18Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTCAGCGCTCGGGTGTTTAAA	0.537													6	189	---	---	---	---	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166912	96166912	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:96166912G>T	ENST00000315367.3	+	2	881	c.640G>T	c.(640-642)Ggg>Tgg	p.G214W	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.G214W	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	214						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GCTTTCTGCTGGGGACATGGC	0.478													6	163	---	---	---	---	0	0
ODF1	4956	broad.mit.edu	37	8	103564170	103564170	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:103564170C>A	ENST00000285402.3	+	1	371	c.215C>A	c.(214-216)cCa>cAa	p.P72Q		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	72	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GATCTCTACCCATGTTGCCTG	0.483													7	194	---	---	---	---	0	0
HAS2	3037	broad.mit.edu	37	8	122641020	122641020	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:122641020C>A	ENST00000303924.4	-	2	1098	c.561G>T	c.(559-561)tgG>tgT	p.W187C		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	187						integral to plasma membrane	hyaluronan synthase activity	p.W187*(1)|p.W187C(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTTTCCACCCCATTTTTGCA	0.463													9	279	---	---	---	---	0	0
HAS2	3037	broad.mit.edu	37	8	122641109	122641109	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:122641109C>A	ENST00000303924.4	-	2	1009	c.472G>T	c.(472-474)Ggt>Tgt	p.G158C		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	158						integral to plasma membrane	hyaluronan synthase activity	p.G158S(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TCTGTCTCACCGGGACCCTTT	0.433													6	320	---	---	---	---	0	0
ANXA13	312	broad.mit.edu	37	8	124693518	124693518	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:124693518C>A	ENST00000262219.6	-	12	1103	c.1036G>T	c.(1036-1038)Ggg>Tgg	p.G346W	ANXA13_ENST00000419625.1_Missense_Mutation_p.G305W	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	305					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	p.G346W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CGGAAGTCCCCGGAGGTATCT	0.498													8	379	---	---	---	---	0	0
FER1L6	654463	broad.mit.edu	37	8	125094647	125094647	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:125094647C>A	ENST00000522917.1	+	33	4545	c.4339C>A	c.(4339-4341)Cgc>Agc	p.R1447S	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1447S|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1447						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTGGAGAACCGCTTCTACAG	0.488													5	237	---	---	---	---	0	0
RNF139	11236	broad.mit.edu	37	8	125498995	125498995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:125498995G>T	ENST00000303545.3	+	2	1477	c.1105G>T	c.(1105-1107)Gga>Tga	p.G369*		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	369					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTTATCCATGGAATGACAGA	0.413													7	389	---	---	---	---	0	0
TG	7038	broad.mit.edu	37	8	133909917	133909917	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:133909917C>A	ENST00000220616.4	+	12	3065	c.3025C>A	c.(3025-3027)Cgc>Agc	p.R1009S	TG_ENST00000377869.1_Missense_Mutation_p.R1009S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1009	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCAGAGACGCCGCTTTTCCCC	0.567													5	227	---	---	---	---	0	0
EPPK1	83481	broad.mit.edu	37	8	144940861	144940861	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:144940861G>T	ENST00000525985.1	-	2	6632	c.6561C>A	c.(6559-6561)ctC>ctA	p.L2187L				P58107	EPIPL_HUMAN	epiplakin 1	2187						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTGAGCTGAGGAGTTCAG	0.537													9	357	---	---	---	---	0	0
EXOSC4	54512	broad.mit.edu	37	8	145134858	145134858	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:145134858C>A	ENST00000316052.5	+	2	287	c.184C>A	c.(184-186)Cgg>Agg	p.R62R	EXOSC4_ENST00000525936.1_Silent_p.R62R	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	62					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	p.R62R(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGGGGCTCCCGGGCTCGAGC	0.612													6	216	---	---	---	---	0	0
UBAP2	55833	broad.mit.edu	37	9	33986767	33986767	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:33986767G>T	ENST00000379238.1	-	6	628	c.511C>A	c.(511-513)Cgg>Agg	p.R171R	UBAP2_ENST00000418786.2_Silent_p.R171R|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Silent_p.R171R|UBAP2_ENST00000449054.1_Silent_p.R171R|UBAP2_ENST00000379239.4_5'UTR			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	171								p.R171R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCTCTACCCCGGGCTCGCTTG	0.463													7	449	---	---	---	---	0	0
C9orf131	138724	broad.mit.edu	37	9	35043625	35043625	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:35043625C>A	ENST00000312292.5	+	2	1046	c.999C>A	c.(997-999)ccC>ccA	p.P333P	C9orf131_ENST00000354479.5_Silent_p.P260P|C9orf131_ENST00000421362.2_Silent_p.P285P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	333										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AAAAGATGCCCCAAGCTTTTG	0.542													10	362	---	---	---	---	0	0
C9orf131	138724	broad.mit.edu	37	9	35045210	35045210	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:35045210C>A	ENST00000312292.5	+	2	2631	c.2584C>A	c.(2584-2586)Cac>Aac	p.H862N	C9orf131_ENST00000354479.5_Missense_Mutation_p.H789N|C9orf131_ENST00000421362.2_Missense_Mutation_p.H814N	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	862										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCAGTCCTCCCACTGTCATCA	0.547													8	388	---	---	---	---	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746737	37746737	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:37746737C>A	ENST00000539465.1	+	16	5301	c.4708C>A	c.(4708-4710)Cag>Aag	p.Q1570K	FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q1570K|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1570						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGTTTGACCCAGAAGTTCCG	0.622													6	147	---	---	---	---	0	0
TRPM3	80036	broad.mit.edu	37	9	73235187	73235187	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:73235187G>T	ENST00000377110.3	-	15	2141	c.1898C>A	c.(1897-1899)cCc>cAc	p.P633H	TRPM3_ENST00000396285.1_Missense_Mutation_p.P480H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P505H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P492H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P482H|TRPM3_ENST00000377106.1_Missense_Mutation_p.P505H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P495H|TRPM3_ENST00000358082.3_Missense_Mutation_p.P495H|TRPM3_ENST00000377111.2_Missense_Mutation_p.P633H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P660H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P492H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P637H			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAAAGGGAAGGGGAAGTGGTT	0.522													7	197	---	---	---	---	0	0
PRUNE2	158471	broad.mit.edu	37	9	79252395	79252395	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:79252395G>T	ENST00000428286.1	-	14	9028	c.7828C>A	c.(7828-7830)Cca>Aca	p.P2610T	PRUNE2_ENST00000443509.2_Missense_Mutation_p.P217T|PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2968T|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000223609.6_Missense_Mutation_p.P233T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2968					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCTTCTTGGGGTTGCACCA	0.398													8	214	---	---	---	---	0	0
CTSL	1514	broad.mit.edu	37	9	90343536	90343536	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:90343536G>T	ENST00000343150.5	+	5	1323	c.433G>T	c.(433-435)Ggt>Tgt	p.G145C	CTSL_ENST00000342020.5_Missense_Mutation_p.G145C|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.G145C					cathepsin L																		TAGTGCTACTGGTGCTCTTGA	0.443													6	189	---	---	---	---	0	0
SPTLC1	10558	broad.mit.edu	37	9	94797094	94797094	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:94797094G>T	ENST00000262554.2	-	14	1331	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	442						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAACTGACCTGGGAGGAGGGA	0.388													6	153	---	---	---	---	0	0
FANCC	2176	broad.mit.edu	37	9	97873771	97873771	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:97873771C>A	ENST00000289081.3	-	13	1557	c.1303G>T	c.(1303-1305)Ggg>Tgg	p.G435W	FANCC_ENST00000375305.1_Missense_Mutation_p.G435W	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	435					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TGCTGCCTCCCATCACGGGGG	0.632			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	130	---	---	---	---	0	0
COL15A1	1306	broad.mit.edu	37	9	101748233	101748233	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:101748233C>A	ENST00000375001.3	+	3	910	c.487C>A	c.(487-489)Cgc>Agc	p.R163S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	163	TSP N-terminal.		R -> H (in dbSNP:rs2075662).		angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGGTGGAACCGCTTCGCCAT	0.612													5	133	---	---	---	---	0	0
COL15A1	1306	broad.mit.edu	37	9	101785643	101785643	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:101785643G>T	ENST00000375001.3	+	14	2189	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	589	Nonhelical region 2 (NC2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCAGGCAGGAGCAGAAGCA	0.547													25	43	---	---	---	---	0	0
TMEM245	23731	broad.mit.edu	37	9	111849550	111849550	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:111849550C>A	ENST00000374586.3	-	6	1254	c.1223G>T	c.(1222-1224)tGg>tTg	p.W408L		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	408						integral to membrane											TATAATGCCCCACCACACATG	0.423													6	103	---	---	---	---	0	0
SVEP1	79987	broad.mit.edu	37	9	113217947	113217947	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:113217947G>T	ENST00000401783.2	-	22	4046	c.3710C>A	c.(3709-3711)cCa>cAa	p.P1237Q	SVEP1_ENST00000302728.8_Missense_Mutation_p.P1237Q|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1214Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1237	EGF-like 2; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCAAGGCAGTGGGCTGCACTC	0.443													5	35	---	---	---	---	0	0
TNC	3371	broad.mit.edu	37	9	117852972	117852972	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:117852972C>A	ENST00000350763.4	-	2	737	c.326G>T	c.(325-327)cGg>cTg	p.R109L	TNC_ENST00000340094.3_Missense_Mutation_p.R109L|TNC_ENST00000345230.3_Missense_Mutation_p.R109L|TNC_ENST00000535648.1_Missense_Mutation_p.R109L|TNC_ENST00000537320.1_Missense_Mutation_p.R109L|TNC_ENST00000423613.2_Missense_Mutation_p.R109L|TNC_ENST00000346706.3_Missense_Mutation_p.R109L|TNC_ENST00000341037.4_Missense_Mutation_p.R109L|TNC_ENST00000542877.1_Missense_Mutation_p.R109L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	109					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCCACAGGCCCGGCGGGGGAT	0.587													7	429	---	---	---	---	0	0
HSPA5	3309	broad.mit.edu	37	9	127999063	127999063	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:127999063C>A	ENST00000324460.6	-	8	1976	c.1773G>T	c.(1771-1773)aaG>aaT	p.K591N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	591					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CCATGGTCTCCTTATCTTCAG	0.393										Prostate(1;0.17)			6	131	---	---	---	---	0	0
LMX1B	4010	broad.mit.edu	37	9	129455528	129455528	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:129455528C>A	ENST00000355497.5	+	4	674	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	LMX1B_ENST00000425646.2_Silent_p.R200R|LMX1B_ENST00000561065.1_Silent_p.R200R|LMX1B_ENST00000373474.4_Silent_p.R223R|LMX1B_ENST00000526117.1_Silent_p.R223R	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	200					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R223G(1)|p.R200G(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CAAGCGACCCCGGACCATCCT	0.682									Nail-Patella Syndrome				3	9	---	---	---	---	0	0
POMT1	10585	broad.mit.edu	37	9	134390831	134390831	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:134390831C>A	ENST00000423007.1	+	13	1636	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P	POMT1_ENST00000354713.4_Silent_p.P368P|POMT1_ENST00000341012.7_Silent_p.P344P|POMT1_ENST00000419118.2_Silent_p.P246P|POMT1_ENST00000402686.3_Silent_p.P398P|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000372228.3_Silent_p.P420P|POMT1_ENST00000541219.1_Silent_p.P176P|POMT1_ENST00000404875.2_Silent_p.P281P	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	420	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGCAGCCCCCCTGAGCCCCC	0.502													6	109	---	---	---	---	0	0
LCN12	286256	broad.mit.edu	37	9	139847376	139847376	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:139847376G>T	ENST00000371633.3	+	2	147	c.147G>T	c.(145-147)gcG>gcT	p.A49A		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	49					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGGCCTGGCGGGCAACAGCT	0.647													6	211	---	---	---	---	0	0
AKR1C1	1645	broad.mit.edu	37	10	5014886	5014886	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:5014886G>T	ENST00000380872.4	+	7	983	c.791G>T	c.(790-792)gGg>gTg	p.G264V	AKR1C1_ENST00000434459.2_Missense_Mutation_p.G264V|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1									p.G264V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						CTACAGCGTGGGGTTGTGGTC	0.602													6	95	---	---	---	---	0	0
CUBN	8029	broad.mit.edu	37	10	17151726	17151726	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:17151726C>A	ENST00000377833.4	-	10	1089	c.1024G>T	c.(1024-1026)Ggt>Tgt	p.G342C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	342	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCCGTCACCCTGGTACCCT	0.478													5	91	---	---	---	---	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276493	18276493	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:18276493G>T	ENST00000377369.2	+	7	1455	c.1182G>T	c.(1180-1182)gaG>gaT	p.E394D	SLC39A12_ENST00000377371.3_Missense_Mutation_p.E394D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E394D|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E260D	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	394					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATAGCTGTGAGGAGAACTACA	0.547													8	122	---	---	---	---	0	0
GPR158	57512	broad.mit.edu	37	10	25887349	25887349	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:25887349C>A	ENST00000376351.3	+	11	3153	c.2794C>A	c.(2794-2796)Cag>Aag	p.Q932K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	932						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CACTAAATCCCAGAAACCTTT	0.443													7	214	---	---	---	---	0	0
ACBD5	91452	broad.mit.edu	37	10	27499963	27499963	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:27499963C>A	ENST00000396271.3	-	9	1110	c.984G>T	c.(982-984)ttG>ttT	p.L328F	ACBD5_ENST00000375905.4_Missense_Mutation_p.L293F|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.L337F|ACBD5_ENST00000375901.1_Missense_Mutation_p.L219F|ACBD5_ENST00000375897.3_Missense_Mutation_p.L151F	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	337					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.L328F(1)|p.L293F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AATGACCACCCAAGTAATACT	0.388													5	100	---	---	---	---	0	0
DNA2	1763	broad.mit.edu	37	10	70191661	70191661	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:70191661C>A	ENST00000399180.2	-	13	2198	c.2199G>T	c.(2197-2199)gtG>gtT	p.V733V	DNA2_ENST00000358410.3_Silent_p.V647V|DNA2_ENST00000399179.2_Silent_p.V647V			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	647					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAGGCATACCCACGATGAGTG	0.363													8	279	---	---	---	---	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81051939	81051939	+	Silent	SNP	C	C	A	rs78587165		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:81051939C>A	ENST00000334512.5	+	11	1355	c.783C>A	c.(781-783)ccC>ccA	p.P261P	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	261					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTAACGCCCCCGCAGGCATGG	0.662													5	186	---	---	---	---	0	0
AGAP11	119385	broad.mit.edu	37	10	88769144	88769144	+	RNA	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:88769144C>A	ENST00000444431.1	+	0	3744				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCGCCTTTCCCGTGTGCGATC	0.527													6	342	---	---	---	---	0	0
HTR7	3363	broad.mit.edu	37	10	92508800	92508800	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:92508800C>A	ENST00000371721.3	-	2	1333	c.1091G>T	c.(1090-1092)tGg>tTg	p.W364L	HTR7_ENST00000277874.6_Missense_Mutation_p.W364L|HTR7_ENST00000336152.3_Missense_Mutation_p.W364L|HTR7_ENST00000371719.2_Missense_Mutation_p.W364L			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	364					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CCTCTCCACCCACAGTGGGAT	0.532													6	110	---	---	---	---	0	0
BTAF1	9044	broad.mit.edu	37	10	93741458	93741458	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:93741458C>A	ENST00000265990.6	+	16	2122	c.1814C>A	c.(1813-1815)cCa>cAa	p.P605Q	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	605					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCTGCTTGCCCATGGATGGGT	0.423													6	175	---	---	---	---	0	0
SLC35G1	159371	broad.mit.edu	37	10	95658490	95658490	+	Missense_Mutation	SNP	C	C	A	rs78174634		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:95658490C>A	ENST00000371408.3	+	2	399	c.338C>A	c.(337-339)cCt>cAt	p.P113H	SLC35G1_ENST00000427197.1_Missense_Mutation_p.P114H			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	114	DUF6 1.					integral to membrane											GTTGTTATCCCTTGCTTAATA	0.338													5	69	---	---	---	---	0	0
PLCE1	51196	broad.mit.edu	37	10	95987160	95987160	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:95987160G>T	ENST00000371380.3	+	4	2142	c.1907G>T	c.(1906-1908)tGg>tTg	p.W636L	PLCE1_ENST00000371385.3_Missense_Mutation_p.W328L|PLCE1_ENST00000260766.3_Missense_Mutation_p.W636L|PLCE1_ENST00000371375.1_Missense_Mutation_p.W328L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1		Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAATGCTGCTGGAACATGGGC	0.517													6	178	---	---	---	---	0	0
PYROXD2	84795	broad.mit.edu	37	10	100154987	100154987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:100154987C>A	ENST00000370575.4	-	8	799	c.751G>T	c.(751-753)Gga>Tga	p.G251*	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	251							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GTCATGGCTCCAATCACTGCA	0.572													6	184	---	---	---	---	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609163	115609163	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:115609163G>T	ENST00000361384.2	-	2	2618	c.1701C>A	c.(1699-1701)ccC>ccA	p.P567P	DCLRE1A_ENST00000369305.1_Silent_p.P567P	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	567	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CCTTTCTTTTGGGAGGTAGTC	0.383								Other identified genes with known or suspected DNA repair function					6	150	---	---	---	---	0	0
DMBT1	1755	broad.mit.edu	37	10	124330412	124330412	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:124330412C>A	ENST00000338354.3	+	4	252	c.146C>A	c.(145-147)cCa>cAa	p.P49Q	DMBT1_ENST00000359586.6_Missense_Mutation_p.P49Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.P49Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.P49Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	49					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAGGTTCTCCATTTCCCTCG	0.552													7	195	---	---	---	---	0	0
FAM175B	23172	broad.mit.edu	37	10	126490444	126490444	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:126490444C>A	ENST00000298492.5	+	1	91	c.46C>A	c.(46-48)Cac>Aac	p.H16N		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	16	MPN-like.					BRISC complex	polyubiquitin binding			NS(1)	1						TGTGTGTTTCCACAGCGCCAA	0.677													6	150	---	---	---	---	0	0
PTPRE	5791	broad.mit.edu	37	10	129867974	129867974	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:129867974G>T	ENST00000254667.3	+	13	1305	c.1026G>T	c.(1024-1026)acG>acT	p.T342T	PTPRE_ENST00000306042.5_Silent_p.T284T|PTPRE_ENST00000419012.2_Silent_p.T342T	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	342	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGGGCCGGACGGGCACCTTCA	0.577											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	217	---	---	---	---	0	0
C10orf91	170393	broad.mit.edu	37	10	134261403	134261403	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:134261403C>A	ENST00000392630.3	+	3	337	c.276C>A	c.(274-276)tcC>tcA	p.S92S	C10orf91_ENST00000490765.1_3'UTR|C10orf91_ENST00000321248.2_Silent_p.S92S	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	92										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		CCCCTGCCTCCGGGCGCCCGC	0.667													6	220	---	---	---	---	0	0
LRRC56	115399	broad.mit.edu	37	11	550100	550100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:550100C>A	ENST00000270115.7	+	8	952	c.452C>A	c.(451-453)tCg>tAg	p.S151*		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	151										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AACAACATCTCGGACCTGAGC	0.667													5	87	---	---	---	---	0	0
MUC5B	727897	broad.mit.edu	37	11	1255481	1255481	+	Silent	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:1255481G>A	ENST00000447027.1	+	20	2491	c.2433G>A	c.(2431-2433)gcG>gcA	p.A811A	MUC5B_ENST00000529681.1_Silent_p.A808A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	808	TIL 3.			P -> L (in Ref. 2; AAC67545).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCTCGGCGGGCACCCCTG	0.692													6	16	---	---	---	---	0	0
SBF2	81846	broad.mit.edu	37	11	9868556	9868556	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:9868556G>T	ENST00000256190.8	-	23	3018	c.2881C>A	c.(2881-2883)Cag>Aag	p.Q961K	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	961					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGCTGTAGCTGGTTCTGCATT	0.413													7	179	---	---	---	---	0	0
F2	2147	broad.mit.edu	37	11	46750354	46750354	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:46750354C>A	ENST00000311907.5	+	11	1495	c.1439C>A	c.(1438-1440)cCt>cAt	p.P480H	F2_ENST00000530231.1_Intron	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	480	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TACATTCACCCTGTGTGTCTG	0.577													6	109	---	---	---	---	0	0
OR4D6	219983	broad.mit.edu	37	11	59225298	59225298	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:59225298C>A	ENST00000300127.2	+	1	888	c.865C>A	c.(865-867)Ctg>Atg	p.L289M		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CATCTATTCCCTGAGAAATCA	0.512													6	157	---	---	---	---	0	0
MRPL16	54948	broad.mit.edu	37	11	59573832	59573832	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:59573832G>T	ENST00000300151.4	-	4	957	c.744C>A	c.(742-744)ccC>ccA	p.P248P		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	248							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						ACACACGTTTGGGCATGTAGA	0.473													7	233	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62295012	62295012	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:62295012C>A	ENST00000378024.4	-	5	7151	c.6877G>T	c.(6877-6879)Ggg>Tgg	p.G2293W	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2293					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCAGCTTCCCTTCTGGACCT	0.502													10	301	---	---	---	---	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782166	62782166	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:62782166G>T	ENST00000336232.2	-	2	400	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	SLC22A8_ENST00000311438.8_Missense_Mutation_p.Q89K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.Q89K|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000545207.1_5'UTR	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	89					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						ATGGCCCTCTGGGTGTCATTG	0.597													7	195	---	---	---	---	0	0
NAA40	79829	broad.mit.edu	37	11	63721499	63721499	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:63721499C>A	ENST00000377793.4	+	7	651	c.550C>A	c.(550-552)Cag>Aag	p.Q184K	NAA40_ENST00000542163.1_Missense_Mutation_p.Q163K|NAA40_ENST00000456907.2_Missense_Mutation_p.Q144K|NAA40_ENST00000539656.1_Missense_Mutation_p.Q71K	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	184	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TGGTGCCTACCAGTTCTTCAG	0.502													6	191	---	---	---	---	0	0
LTBP3	4054	broad.mit.edu	37	11	65325189	65325189	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:65325189C>A	ENST00000301873.5	-	1	510	c.242G>T	c.(241-243)cGg>cTg	p.R81L	LTBP3_ENST00000322147.4_Missense_Mutation_p.R81L|LTBP3_ENST00000536982.1_5'UTR	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	81	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ACAACTGTCCCGACACTGGCC	0.692													4	70	---	---	---	---	0	0
ADRBK1	156	broad.mit.edu	37	11	67051215	67051215	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:67051215C>A	ENST00000308595.5	+	16	1656	c.1366C>A	c.(1366-1368)Ctg>Atg	p.L456M	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	456	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TTTCCGCTCCCTGGACTGGCA	0.617													6	77	---	---	---	---	0	0
FGF3	2248	broad.mit.edu	37	11	69631132	69631132	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:69631132C>A	ENST00000334134.2	-	2	370	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	94					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGGTACCGCCCGGAGAAGAGA	0.612													6	119	---	---	---	---	0	0
MMP1	4312	broad.mit.edu	37	11	102662178	102662178	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:102662178G>T	ENST00000315274.6	-	8	1149	c.1082C>A	c.(1081-1083)cCc>cAc	p.P361H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	361	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GATGTCCTTGGGGTATCCGTG	0.448													7	259	---	---	---	---	0	0
USP28	57646	broad.mit.edu	37	11	113679043	113679043	+	Missense_Mutation	SNP	C	C	A	rs143699311		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:113679043C>A	ENST00000003302.4	-	18	2349	c.2281G>T	c.(2281-2283)Ggt>Tgt	p.G761C	USP28_ENST00000545540.1_Missense_Mutation_p.G636C|USP28_ENST00000260188.5_Missense_Mutation_p.G761C|USP28_ENST00000544967.1_Missense_Mutation_p.G469C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	761					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G761S(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCTTCTACACCGCTCTTCTCA	0.522													5	240	---	---	---	---	0	0
FOXR1	283150	broad.mit.edu	37	11	118851309	118851309	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:118851309G>T	ENST00000317011.3	+	5	946	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	241					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CATGCAGGGCGGGGCCAGCAC	0.612													5	131	---	---	---	---	0	0
TRIM29	23650	broad.mit.edu	37	11	120008334	120008334	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:120008334G>T	ENST00000341846.5	-	1	827	c.406C>A	c.(406-408)Cgg>Agg	p.R136R		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	136					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTGGGCTTCCGGGACTCCGAG	0.657													6	196	---	---	---	---	0	0
ROBO3	64221	broad.mit.edu	37	11	124747172	124747172	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:124747172C>A	ENST00000397801.1	+	19	3005	c.2813C>A	c.(2812-2814)cCg>cAg	p.P938Q	ROBO3_ENST00000525482.1_Intron|ROBO3_ENST00000538940.1_Missense_Mutation_p.P916Q	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	938					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GTGTCCTTCCCGCACTCAGAG	0.617													6	120	---	---	---	---	0	0
RPUSD4	84881	broad.mit.edu	37	11	126079521	126079521	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:126079521C>A	ENST00000298317.4	-	3	505	c.452G>T	c.(451-453)cGg>cTg	p.R151L	RPUSD4_ENST00000533628.1_Missense_Mutation_p.R151L|RPUSD4_ENST00000534393.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	151					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CTTGTCCAGCCGGTGGCACAG	0.532													7	313	---	---	---	---	0	0
B4GALNT3	283358	broad.mit.edu	37	12	667678	667678	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:667678C>A	ENST00000266383.5	+	18	2625	c.2612C>A	c.(2611-2613)cCg>cAg	p.P871Q		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	871						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCCAGGACCCGCACAGCATC	0.587													5	194	---	---	---	---	0	0
NRIP2	83714	broad.mit.edu	37	12	2943848	2943848	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:2943848G>T	ENST00000337508.4	-	1	342	c.302C>A	c.(301-303)cCg>cAg	p.P101Q		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	101					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTGTCCAGCGGGAGCAGGTC	0.657													5	128	---	---	---	---	0	0
PHC1	1911	broad.mit.edu	37	12	9087015	9087015	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:9087015C>A	ENST00000433083.2	+	9	2204	c.2059C>A	c.(2059-2061)Cag>Aag	p.Q687K	PHC1_ENST00000544916.1_Missense_Mutation_p.Q732K|PHC1_ENST00000543824.1_Missense_Mutation_p.Q732K|PHC1_ENST00000536844.1_Missense_Mutation_p.Q338K			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	732					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CGTGAAGCCCCAGATTCTCAC	0.552													5	75	---	---	---	---	0	0
PZP	5858	broad.mit.edu	37	12	9346733	9346733	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:9346733C>A	ENST00000261336.2	-	11	1222	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	PZP_ENST00000381997.2_Missense_Mutation_p.Q267H	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTGCAAGACCCTGCTCATTGG	0.413													6	135	---	---	---	---	0	0
LRMP	4033	broad.mit.edu	37	12	25243031	25243031	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:25243031G>T	ENST00000354454.3	+	13	1335	c.506G>T	c.(505-507)tGg>tTg	p.W169L	LRMP_ENST00000548766.1_Missense_Mutation_p.W169L|LRMP_ENST00000547044.1_Missense_Mutation_p.W169L	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	225					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AAGTGTGACTGGTTTACCTTG	0.398													7	99	---	---	---	---	0	0
ITPR2	3709	broad.mit.edu	37	12	26816707	26816707	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:26816707C>A	ENST00000381340.3	-	15	2040	c.1624G>T	c.(1624-1626)Ggg>Tgg	p.G542W		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	542					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CTTTGATCCCCCAGATCTTCA	0.463													8	337	---	---	---	---	0	0
KLHL42	57542	broad.mit.edu	37	12	27950650	27950650	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:27950650C>A	ENST00000381271.2	+	3	1380	c.1069C>A	c.(1069-1071)Cgg>Agg	p.R357R		NM_020782.1	NP_065833.1			kelch-like family member 42																		TCTTTCAGACCGGAACATGAA	0.473													7	425	---	---	---	---	0	0
PTHLH	5744	broad.mit.edu	37	12	28116547	28116547	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:28116547G>T	ENST00000535992.1	-	3	604	c.258C>A	c.(256-258)ccC>ccA	p.P86P	PTHLH_ENST00000354417.3_Silent_p.P86P|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Silent_p.P86P|PTHLH_ENST00000201015.4_Silent_p.P86P|PTHLH_ENST00000538310.1_Silent_p.P86P|PTHLH_ENST00000539239.1_Silent_p.P86P|PTHLH_ENST00000545234.1_Silent_p.P86P|PTHLH_ENST00000395868.3_Silent_p.P86P			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	86					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					TCTTTGTGTTGGGAGAGGGCT	0.512													7	207	---	---	---	---	0	0
ALG10B	144245	broad.mit.edu	37	12	38712251	38712251	+	Silent	SNP	C	C	A	rs147946662		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:38712251C>A	ENST00000308742.4	+	2	676	c.360C>A	c.(358-360)ccC>ccA	p.P120P	ALG10B_ENST00000551464.1_Silent_p.P120P	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	120					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGGTACAACCCAGAAACAAGG	0.333													5	127	---	---	---	---	0	0
PCED1B	91523	broad.mit.edu	37	12	47629815	47629815	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:47629815C>A	ENST00000546455.1	+	4	1700	c.969C>A	c.(967-969)ccC>ccA	p.P323P	PCED1B_ENST00000432328.1_Silent_p.P323P					PC-esterase domain containing 1B																		ctcctcctcccATTCTCCATC	0.602													7	160	---	---	---	---	0	0
DNAJC22	79962	broad.mit.edu	37	12	49742879	49742879	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:49742879C>A	ENST00000549441.2	+	3	1428	c.224C>A	c.(223-225)cCt>cAt	p.P75H	DNAJC22_ENST00000395069.3_Missense_Mutation_p.P75H			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	75					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GTGACACCCCCTCTGAGTCCC	0.557													6	126	---	---	---	---	0	0
DAZAP2	9802	broad.mit.edu	37	12	51636194	51636194	+	Missense_Mutation	SNP	G	G	T	rs11555475	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:51636194G>T	ENST00000412716.3	+	4	1075	c.459G>T	c.(457-459)aaG>aaT	p.K153N	DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000551313.1_Missense_Mutation_p.K93N|DAZAP2_ENST00000549732.2_Missense_Mutation_p.K121N|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Missense_Mutation_p.K71N|DAZAP2_ENST00000449723.3_Missense_Mutation_p.K131N|DAZAP2_ENST00000549555.1_Missense_Mutation_p.G128W			Q15038	DAZP2_HUMAN	DAZ associated protein 2	153							WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CTCAGCGGAAGGGGAACTTCT	0.542													9	257	---	---	---	---	0	0
KRT83	3889	broad.mit.edu	37	12	52710743	52710743	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:52710743C>A	ENST00000293670.3	-	5	877	c.815G>T	c.(814-816)cGg>cTg	p.R272L		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	272	Linker 12.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTTCAGGTCCCGGCTGTTGTC	0.562													5	149	---	---	---	---	0	0
IL23A	51561	broad.mit.edu	37	12	56733285	56733285	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:56733285C>A	ENST00000228534.4	+	2	404	c.238C>A	c.(238-240)Caa>Aaa	p.Q80K		NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	80					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTGTGACCCCCAAGGACTCAG	0.507													4	35	---	---	---	---	0	0
GLI1	2735	broad.mit.edu	37	12	57857845	57857845	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:57857845C>A	ENST00000228682.2	+	3	255	c.164C>A	c.(163-165)cCa>cAa	p.P55Q	GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	55					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTTATGGGCCAGCCAGAGAG	0.567													6	186	---	---	---	---	0	0
MBD6	0	broad.mit.edu	37	12	57920645	57920645	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:57920645C>A	ENST00000355673.3	+	7	2073	c.1717C>A	c.(1717-1719)Cct>Act	p.P573T	MBD6_ENST00000431731.2_Missense_Mutation_p.P573T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	573	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACAACCTCCCCCTGAGCCCCT	0.622													5	64	---	---	---	---	0	0
AVPR1A	0	broad.mit.edu	37	12	63543872	63543872	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:63543872C>A	ENST00000299178.2	-	1	850	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	249					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G249W(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCGTCTTCCCGCGGACGTTG	0.612													5	143	---	---	---	---	0	0
XPOT	11260	broad.mit.edu	37	12	64819661	64819661	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:64819661C>A	ENST00000332707.5	+	15	2168	c.1639C>A	c.(1639-1641)Ctg>Atg	p.L547M		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	547	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GACGGCTTACCTGTTTTCTAG	0.348													10	244	---	---	---	---	0	0
ANKS1B	56899	broad.mit.edu	37	12	99145222	99145222	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:99145222C>A	ENST00000547776.2	-	25	3582	c.3583G>T	c.(3583-3585)Ggg>Tgg	p.G1195W	ANKS1B_ENST00000549558.2_Missense_Mutation_p.G361W|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G361W|ANKS1B_ENST00000341752.7_Missense_Mutation_p.G201W|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G385W|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G445W|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G385W|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G1195W|ANKS1B_ENST00000547446.1_Missense_Mutation_p.G330W|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G421W|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G293W|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G711W|ANKS1B_ENST00000333732.7_Missense_Mutation_p.G225W	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1195	PID.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAGTGTCCCCCTTTTCTTGCT	0.473													6	122	---	---	---	---	0	0
STAB2	55576	broad.mit.edu	37	12	104107524	104107524	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:104107524G>T	ENST00000388887.2	+	42	4719	c.4515G>T	c.(4513-4515)acG>acT	p.T1505T		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1505	EGF-like 12.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGCTACACGGGTGATGGCA	0.527													7	240	---	---	---	---	0	0
RFX4	5992	broad.mit.edu	37	12	107144484	107144484	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:107144484C>A	ENST00000392842.1	+	17	2262	c.1848C>A	c.(1846-1848)ccC>ccA	p.P616P	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.P625P|RFX4_ENST00000229387.5_Silent_p.P522P	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	616					transcription, DNA-dependent	nucleus	DNA binding	p.P616P(1)|p.P625P(1)|p.P522P(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATCCTCACCCCATGCAGAGCC	0.507													7	209	---	---	---	---	0	0
C12orf23	90488	broad.mit.edu	37	12	107365136	107365136	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:107365136C>A	ENST00000280756.4	+	4	736	c.318C>A	c.(316-318)ccC>ccA	p.P106P	C12orf23_ENST00000547242.1_Silent_p.P106P|C12orf23_ENST00000550344.1_Silent_p.P106P|C12orf23_ENST00000551813.1_Silent_p.P106P|C12orf23_ENST00000548125.1_Silent_p.P106P|C12orf23_ENST00000547081.1_Silent_p.P106P	NM_152261.2	NP_689474.1	Q8WUH6	CL023_HUMAN	chromosome 12 open reading frame 23	106						integral to membrane				endometrium(1)|lung(2)	3						ACAAAGTGCCCTTAACAGGAA	0.463													5	76	---	---	---	---	0	0
CRY1	1407	broad.mit.edu	37	12	107391132	107391132	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:107391132C>A	ENST00000008527.5	-	10	2392	c.1525G>T	c.(1525-1527)Ggg>Tgg	p.G509W		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	509					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	p.G509W(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CCTCCATTCCCATTAGGATTA	0.343													7	221	---	---	---	---	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685637	108685637	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:108685637C>A	ENST00000312143.7	-	3	1466	c.1103G>T	c.(1102-1104)aGg>aTg	p.R368M	CMKLR1_ENST00000412676.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R366M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R366M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	368					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.R366M(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCCGGTCTCCCTCTCATTCAT	0.478													6	114	---	---	---	---	0	0
ATXN2	6311	broad.mit.edu	37	12	111893853	111893853	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:111893853G>T	ENST00000377617.3	-	23	3885	c.3724C>A	c.(3724-3726)Cac>Aac	p.H1242N	ATXN2_ENST00000535949.1_Missense_Mutation_p.H935N|ATXN2_ENST00000608853.1_Missense_Mutation_p.H1082N|ATXN2_ENST00000389153.4_Missense_Mutation_p.H979N|ATXN2_ENST00000542287.2_Missense_Mutation_p.H977N|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1242					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGGCCATGTGGGGTGGGTTG	0.512													7	232	---	---	---	---	0	0
MED13L	23389	broad.mit.edu	37	12	116435003	116435003	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:116435003G>T	ENST00000281928.3	-	15	2808	c.2602C>A	c.(2602-2604)Cca>Aca	p.P868T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	868					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAAGATGGTGGAGTGGGAAAC	0.398													6	91	---	---	---	---	0	0
UNC119B	84747	broad.mit.edu	37	12	121154520	121154520	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:121154520C>A	ENST00000344651.4	+	3	488	c.448C>A	c.(448-450)Cgc>Agc	p.R150S		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	150										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCATTTCTCCGCCTCCGGAC	0.537													6	198	---	---	---	---	0	0
TCTN2	79867	broad.mit.edu	37	12	124171483	124171483	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:124171483G>T	ENST00000303372.5	+	6	793	c.665G>T	c.(664-666)gGg>gTg	p.G222V	TCTN2_ENST00000426174.2_Missense_Mutation_p.G221V	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	222					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGCTCTGCTGGGACGACGACA	0.527													9	277	---	---	---	---	0	0
FLT3	2322	broad.mit.edu	37	13	28610092	28610092	+	Silent	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:28610092C>T	ENST00000380982.4	-	11	1479	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	FLT3_ENST00000537084.1_Silent_p.K466K|FLT3_ENST00000241453.7_Silent_p.K466K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	466					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCTGAACACTTCTTCCAGG	0.423			"""Mis, O"""		"""AML, ALL"""								8	296	---	---	---	---	0	0
PAN3	255967	broad.mit.edu	37	13	28840863	28840863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:28840863G>T	ENST00000399613.1	+	9	886	c.823G>T	c.(823-825)Gag>Tag	p.E275*	PAN3_ENST00000282391.5_Nonsense_Mutation_p.E163*|PAN3_ENST00000380958.3_Nonsense_Mutation_p.E475*			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	475	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGTTCCTACAGAGGTTGACAG	0.358													8	224	---	---	---	---	0	0
DCLK1	9201	broad.mit.edu	37	13	36396952	36396952	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:36396952C>A	ENST00000255448.4	-	11	1679	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	DCLK1_ENST00000360631.3_Missense_Mutation_p.G490W|DCLK1_ENST00000379893.1_Missense_Mutation_p.G183W	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	490	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TACAGCATCCCACTGGCGTCT	0.493													8	125	---	---	---	---	0	0
UTP14C	9724	broad.mit.edu	37	13	52603844	52603844	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:52603844G>T	ENST00000521776.2	+	2	1637	c.904G>T	c.(904-906)Ggg>Tgg	p.G302W		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	302					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCAAAACAGTGGGAAATGGGC	0.443													6	120	---	---	---	---	0	0
SUGT1	10910	broad.mit.edu	37	13	53227224	53227224	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:53227224C>A	ENST00000310528.8	+	2	137	c.82C>A	c.(82-84)Cag>Aag	p.Q28K	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.Q28K			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)						mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		CGAGGACCCCCAGGCGGCGTT	0.582											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	180	---	---	---	---	0	0
LMO7	4008	broad.mit.edu	37	13	76415828	76415828	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:76415828G>T	ENST00000357063.3	+	25	5156	c.3896G>T	c.(3895-3897)tGg>tTg	p.W1299L	LMO7_ENST00000465261.2_Missense_Mutation_p.W1014L|LMO7_ENST00000377534.3_Missense_Mutation_p.W1299L|LMO7_ENST00000341547.4_Missense_Mutation_p.W965L|LMO7_ENST00000321797.8_Missense_Mutation_p.W1014L|LMO7_ENST00000526202.1_Missense_Mutation_p.W891L			Q8WWI1	LMO7_HUMAN	LIM domain 7	1299						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTGCCACCTGGGAAGCTACC	0.507													6	151	---	---	---	---	0	0
OR11H4	390442	broad.mit.edu	37	14	20711366	20711366	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:20711366C>A	ENST00000315409.2	+	1	469	c.416C>A	c.(415-417)cCa>cAa	p.P139Q		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATCTGCCACCCACTGCAGTAC	0.463													6	113	---	---	---	---	0	0
TTC5	91875	broad.mit.edu	37	14	20764556	20764556	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:20764556C>A	ENST00000258821.3	-	6	745	c.689G>T	c.(688-690)aGg>aTg	p.R230M		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	230					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TACCGTCGCCCTGTTCAGATG	0.423													8	250	---	---	---	---	0	0
OSGEP	55644	broad.mit.edu	37	14	20922784	20922784	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:20922784C>A	ENST00000206542.4	-	1	480	c.59G>T	c.(58-60)cGg>cTg	p.R20L	OSGEP_ENST00000556252.1_5'UTR	NM_017807.3	NP_060277.1	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	20					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		CTTGCCATCCCGCACCACGCC	0.632													5	127	---	---	---	---	0	0
RNASE2	6036	broad.mit.edu	37	14	21424072	21424072	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:21424072C>A	ENST00000304625.2	+	2	232	c.142C>A	c.(142-144)Cag>Aag	p.Q48K		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	48					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TATGACCTCCCAGCAATGCAC	0.443													6	65	---	---	---	---	0	0
MYH6	4624	broad.mit.edu	37	14	23872637	23872637	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:23872637C>A	ENST00000405093.3	-	10	888	c.818G>T	c.(817-819)cGg>cTg	p.R273L	MYH6_ENST00000356287.3_Missense_Mutation_p.R273L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	273	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GAAGATCACCCGGGACTTCTC	0.572													5	172	---	---	---	---	0	0
PSME2	5721	broad.mit.edu	37	14	24614267	24614267	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:24614267C>A	ENST00000216802.5	-	6	999	c.360G>T	c.(358-360)ctG>ctT	p.L120L	PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Splice_Site_p.L109L	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CCAGGCTTACCAGAATGCATT	0.502													7	239	---	---	---	---	0	0
TGM1	7051	broad.mit.edu	37	14	24731088	24731088	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:24731088C>A	ENST00000206765.6	-	3	444	c.321G>T	c.(319-321)gaG>gaT	p.E107D	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	107					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTAGCATGCCCTCTGCAAGGA	0.577													5	81	---	---	---	---	0	0
NFATC4	4776	broad.mit.edu	37	14	24838791	24838791	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:24838791C>A	ENST00000413692.2	+	3	520	c.376C>A	c.(376-378)Cga>Aga	p.R126R	NFATC4_ENST00000555453.1_Silent_p.R51R|NFATC4_ENST00000424781.2_Silent_p.R76R|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Silent_p.R95R|NFATC4_ENST00000553879.1_5'UTR|NFATC4_ENST00000554591.1_Silent_p.R126R|NFATC4_ENST00000556279.1_Silent_p.R95R|NFATC4_ENST00000539237.2_Silent_p.R95R|NFATC4_ENST00000554344.1_5'UTR|NFATC4_ENST00000556169.1_Silent_p.R51R|NFATC4_ENST00000553708.1_Silent_p.R63R|NFATC4_ENST00000554966.1_Silent_p.R76R|NFATC4_ENST00000555590.1_Silent_p.R76R|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000557451.1_5'UTR|NFATC4_ENST00000554050.1_Silent_p.R63R|NFATC4_ENST00000250373.4_Silent_p.R63R|NFATC4_ENST00000422617.3_Silent_p.R51R	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	63	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGTATTCCCCGACCTCCACC	0.677													5	178	---	---	---	---	0	0
EAPP	55837	broad.mit.edu	37	14	34985607	34985607	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:34985607G>T	ENST00000250454.3	-	6	848	c.767C>A	c.(766-768)cCa>cAa	p.P256Q		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	256					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GCACATGACTGGGTGATAGAT	0.453													7	226	---	---	---	---	0	0
KLHDC1	122773	broad.mit.edu	37	14	50199529	50199529	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:50199529C>A	ENST00000359332.2	+	9	908	c.818C>A	c.(817-819)cCa>cAa	p.P273Q	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	273						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GATAATATCCCATTAAGTAAG	0.313													4	40	---	---	---	---	0	0
YLPM1	56252	broad.mit.edu	37	14	75230236	75230236	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:75230236C>A	ENST00000325680.7	+	1	168	c.44C>A	c.(43-45)cCg>cAg	p.P15Q	YLPM1_ENST00000552421.1_Missense_Mutation_p.P15Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.P15Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	15	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCCACTATCCGCCGCCACCG	0.701													3	21	---	---	---	---	0	0
POMT2	29954	broad.mit.edu	37	14	77751965	77751965	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:77751965C>A	ENST00000261534.4	-	13	1545	c.1343G>T	c.(1342-1344)gGg>gTg	p.G448V		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	448	MIR 2.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	p.G448V(1)		breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ATTTGAGTCCCCTGTTCCATT	0.438													11	659	---	---	---	---	0	0
GTF2A1	2957	broad.mit.edu	37	14	81658967	81658967	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:81658967C>A	ENST00000553612.1	-	7	1232	c.829G>T	c.(829-831)Ggg>Tgg	p.G277W	GTF2A1_ENST00000434192.2_Missense_Mutation_p.G238W	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	277					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		GATGTATCCCCAGTTCCATCA	0.483													8	130	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419316	105419316	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:105419316C>A	ENST00000333244.5	-	7	2591	c.2472G>T	c.(2470-2472)aaG>aaT	p.K824N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	824						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTCACCTCCTTGTCGGCCA	0.592													9	377	---	---	---	---	0	0
IGHG2	0	broad.mit.edu	37	14	106109863	106109863	+	RNA	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:106109863C>A	ENST00000390545.2	-	0	658																											CGGGGCTGCCCTGTAGGGACA	0.652													8	339	---	---	---	---	0	0
SNHG14	0	broad.mit.edu	37	15	25438468	25438468	+	RNA	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:25438468G>T	ENST00000424208.1	+	0	1327				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000363358.1_RNA	NR_003305.1																						GCCCTGAGTTGGGTCGATGAT	0.527													7	285	---	---	---	---	0	0
HERC2	8924	broad.mit.edu	37	15	28473497	28473497	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:28473497C>A	ENST00000261609.7	-	35	5439	c.5331G>T	c.(5329-5331)ctG>ctT	p.L1777L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1777					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGATGGTCCCCAGGCTCGGTC	0.567													5	56	---	---	---	---	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42107849	42107849	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:42107849G>T	ENST00000457542.2	+	12	1631	c.1345G>T	c.(1345-1347)Ggg>Tgg	p.G449W	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G332W|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G455W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G449W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G288W	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	455										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTATGTGGATGGGAACACCCA	0.557													4	27	---	---	---	---	0	0
GANC	2595	broad.mit.edu	37	15	42641676	42641676	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:42641676C>A	ENST00000318010.8	+	22	2754	c.2514C>A	c.(2512-2514)tcC>tcA	p.S838S	CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	838					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		CATTCTGTTCCAGTGTTCTGA	0.393													5	119	---	---	---	---	0	0
UBR1	197131	broad.mit.edu	37	15	43328436	43328436	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:43328436C>A	ENST00000290650.4	-	19	2208	c.2130G>T	c.(2128-2130)ctG>ctT	p.L710L	UBR1_ENST00000382177.2_Silent_p.L710L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	710					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCTGAAGTACCAGTAACAAGA	0.338													7	300	---	---	---	---	0	0
TP53BP1	7158	broad.mit.edu	37	15	43712632	43712632	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:43712632C>A	ENST00000263801.3	-	21	4789	c.4537G>T	c.(4537-4539)Ggg>Tgg	p.G1513W	TP53BP1_ENST00000382039.3_Missense_Mutation_p.G1468W|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1518W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1518W	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1513	Interaction with dimethylated histone H4.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTATACTTCCCAGCTCCGACA	0.483								Other conserved DNA damage response genes					7	341	---	---	---	---	0	0
FBN1	2200	broad.mit.edu	37	15	48717950	48717950	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:48717950C>A	ENST00000316623.5	-	59	7771	c.7316G>T	c.(7315-7317)gGg>gTg	p.G2439V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2439	EGF-like 41; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGGAAGTCCCAGTTATATC	0.363													6	74	---	---	---	---	0	0
OAZ2	4947	broad.mit.edu	37	15	64982648	64982648	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:64982648C>A	ENST00000326005.6	-	4	510	c.278G>T	c.(277-279)tGg>tTg	p.W93L	OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.W93L|OAZ2_ENST00000560837.1_5'UTR			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	93					polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding									L-Ornithine(DB00129)	GACTGCATCCCAAGAAGAGAC	0.517													7	196	---	---	---	---	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917307	65917307	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:65917307G>T	ENST00000261892.6	+	2	1176	c.889G>T	c.(889-891)Ggg>Tgg	p.G297W	SLC24A1_ENST00000339868.6_Missense_Mutation_p.G297W|SLC24A1_ENST00000537259.1_Missense_Mutation_p.G297W|SLC24A1_ENST00000399033.4_Missense_Mutation_p.G297W|SLC24A1_ENST00000546330.1_Missense_Mutation_p.G297W|SLC24A1_ENST00000544319.2_Missense_Mutation_p.G297W	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	297					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCATCCCTGGGGGTTAGTGGG	0.537													6	122	---	---	---	---	0	0
FEM1B	10116	broad.mit.edu	37	15	68582486	68582486	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:68582486C>A	ENST00000306917.4	+	2	1405	c.790C>A	c.(790-792)Cgt>Agt	p.R264S		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	264					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGCAAATGACCGTGAGAACTA	0.418													7	177	---	---	---	---	0	0
PARP6	56965	broad.mit.edu	37	15	72552964	72552964	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:72552964C>A	ENST00000569795.1	-	10	1298	c.611G>T	c.(610-612)cGg>cTg	p.R204L	PARP6_ENST00000287196.9_Missense_Mutation_p.R204L|PARP6_ENST00000260376.7_Missense_Mutation_p.R204L|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	204							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GCGCCCAACCCGAAGCTCTGG	0.532													8	557	---	---	---	---	0	0
BBS4	585	broad.mit.edu	37	15	73028174	73028174	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:73028174C>A	ENST00000268057.4	+	14	1156	c.1115C>A	c.(1114-1116)cCt>cAt	p.P372H	BBS4_ENST00000395205.2_Missense_Mutation_p.P380H|BBS4_ENST00000539603.1_Missense_Mutation_p.P360H|BBS4_ENST00000542334.1_Missense_Mutation_p.P200H	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	372	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						AGGTGTAACCCTTTAGTAAAC	0.463									Bardet-Biedl syndrome				7	232	---	---	---	---	0	0
ARNT2	9915	broad.mit.edu	37	15	80866543	80866543	+	Silent	SNP	A	A	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:80866543A>T	ENST00000533983.1	+	14	1677	c.1338A>T	c.(1336-1338)tcA>tcT	p.S446S	ARNT2_ENST00000527771.1_Silent_p.S446S|ARNT2_ENST00000303329.4_Silent_p.S457S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	457					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATGGATTGTCATCGTATGACT	0.483													29	58	---	---	---	---	0	0
TMC3	342125	broad.mit.edu	37	15	81625417	81625417	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:81625417G>T	ENST00000558726.1	-	22	2784	c.2649C>A	c.(2647-2649)ccC>ccA	p.P883P	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Silent_p.P882P			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	882						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGGGGCGTGGGGCCTGGGAC	0.468													6	121	---	---	---	---	0	0
C15orf40	123207	broad.mit.edu	37	15	83674445	83674445	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:83674445C>A	ENST00000304177.5	-	4	400		c.e4-1		RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000513601.2_Splice_Site|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000565712.1_Splice_Site	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40											large_intestine(3)|lung(2)|skin(1)	6						ATTTACCACCCTGGACCAAAA	0.393													8	462	---	---	---	---	0	0
ITFG3	83986	broad.mit.edu	37	16	304439	304439	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:304439C>A	ENST00000399932.3	+	3	478	c.27C>A	c.(25-27)gcC>gcA	p.A9A	ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	9						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ACTTAGAGGCCGAAATCCACC	0.493											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	233	---	---	---	---	0	0
METRN	79006	broad.mit.edu	37	16	767145	767145	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:767145C>A	ENST00000568223.2	+	4	815	c.640C>A	c.(640-642)Cgt>Agt	p.R214S	METRN_ENST00000568415.1_Missense_Mutation_p.R81S	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	214										skin(1)	1		Hepatocellular(780;0.00335)				GGTGGCCGCCCGTGTCCTCCG	0.662													3	12	---	---	---	---	0	0
IFT140	9742	broad.mit.edu	37	16	1570280	1570280	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:1570280C>A	ENST00000426508.2	-	28	4088	c.3725G>T	c.(3724-3726)aGg>aTg	p.R1242M	IFT140_ENST00000361339.5_Missense_Mutation_p.R436M	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1242										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCCTTCTGCCTGGACACGCT	0.567													6	153	---	---	---	---	0	0
SRRM2	23524	broad.mit.edu	37	16	2813480	2813480	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:2813480C>A	ENST00000301740.8	+	11	3500	c.2951C>A	c.(2950-2952)cCg>cAg	p.P984Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	984	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTGAAACACCGCCAAGACAA	0.488													5	201	---	---	---	---	0	0
12-Sep	124404	broad.mit.edu	37	16	4829717	4829717	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:4829717C>A	ENST00000268231.8	-	8	1060	c.797G>T	c.(796-798)cGg>cTg	p.R266L	SEPT12_ENST00000396693.5_Missense_Mutation_p.R220L	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	266					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	p.R266Q(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTTGGTCTTCCGGCCCAGGAC	0.602													5	135	---	---	---	---	0	0
SMG1	23049	broad.mit.edu	37	16	18823153	18823153	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:18823153C>A	ENST00000446231.2	-	62	11250	c.10838G>T	c.(10837-10839)tGg>tTg	p.W3613L	SMG1_ENST00000389467.3_Missense_Mutation_p.W3614L|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3613					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACTCTCTTCCACACACTCAC	0.418													9	499	---	---	---	---	0	0
TMC7	79905	broad.mit.edu	37	16	19063038	19063038	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:19063038C>A	ENST00000421369.3	+	13	1999	c.1441C>A	c.(1441-1443)Ccc>Acc	p.P481T	TMC7_ENST00000304381.5_Missense_Mutation_p.P591T|TMC7_ENST00000569532.1_Missense_Mutation_p.P591T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	591						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAGACCCTCCCCCAGGCCGTT	0.413													7	142	---	---	---	---	0	0
GTF3C1	2975	broad.mit.edu	37	16	27474868	27474868	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:27474868C>A	ENST00000356183.4	-	35	5933	c.5918G>T	c.(5917-5919)cGg>cTg	p.R1973L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1948L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1973						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCACCTTTCCCGTGCTGCCTG	0.582													6	189	---	---	---	---	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847439	28847439	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:28847439C>A	ENST00000336783.4	+	22	3248	c.3081C>A	c.(3079-3081)ccC>ccA	p.P1027P	ATXN2L_ENST00000570200.1_Silent_p.P1027P|ATXN2L_ENST00000382686.4_Silent_p.P1027P|ATXN2L_ENST00000340394.8_Silent_p.P1027P|ATXN2L_ENST00000325215.6_Silent_p.P1027P|ATXN2L_ENST00000564304.1_Silent_p.P1033P|ATXN2L_ENST00000395547.2_Silent_p.P1027P|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1027						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCGGACACCCCCAAGGTGAGC	0.632													6	117	---	---	---	---	0	0
SPN	0	broad.mit.edu	37	16	29675312	29675312	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:29675312C>A	ENST00000360121.3	+	2	355	c.263C>A	c.(262-264)cCt>cAt	p.P88H	SPN_ENST00000395389.2_Missense_Mutation_p.P88H	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	88					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						ACTGGTTCCCCTTTACCTGAG	0.542													6	135	---	---	---	---	0	0
SRCAP	10847	broad.mit.edu	37	16	30735154	30735154	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:30735154C>A	ENST00000262518.4	+	25	4794	c.4409C>A	c.(4408-4410)cCa>cAa	p.P1470Q	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1312Q|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1408Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1470	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTTCGGGCCCAGCTCTGTTG	0.612													6	170	---	---	---	---	0	0
VKORC1	79001	broad.mit.edu	37	16	31105608	31105608	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:31105608C>A	ENST00000394971.3	-	1	262	c.215G>T	c.(214-216)cGg>cTg	p.R72L	VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000319788.7_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000354895.4_Intron			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CCTGCCTCCCCGCCTTTCCTG	0.617													9	245	---	---	---	---	0	0
NETO2	81831	broad.mit.edu	37	16	47165907	47165907	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:47165907C>A	ENST00000562435.1	-	2	448	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	NETO2_ENST00000303155.5_Missense_Mutation_p.G22W	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	22						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				ACGGCAATCCCTTCCACTACC	0.338										HNSCC(25;0.065)			8	288	---	---	---	---	0	0
MMP2	0	broad.mit.edu	37	16	55525775	55525775	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:55525775C>A	ENST00000219070.4	+	8	1752	c.1243C>A	c.(1243-1245)Caa>Aaa	p.Q415K	MMP2_ENST00000437642.2_Missense_Mutation_p.Q365K|MMP2_ENST00000570308.1_Missense_Mutation_p.Q339K|MMP2_ENST00000543485.1_Missense_Mutation_p.Q339K	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	415	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GGAGCACTCCCAAGACCCTGG	0.582													5	90	---	---	---	---	0	0
CES1	1066	broad.mit.edu	37	16	55844530	55844530	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:55844530C>A	ENST00000422046.2	-	11	1492	c.1211G>T	c.(1210-1212)gGa>gTa	p.G404V	CES1_ENST00000361503.4_Missense_Mutation_p.G405V|CES1_ENST00000360526.3_Missense_Mutation_p.G406V			P23141	EST1_HUMAN	carboxylesterase 1	405					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GTCTGTTCCTCCTAAGTATTT	0.483													7	171	---	---	---	---	0	0
AMFR	267	broad.mit.edu	37	16	56423201	56423201	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:56423201C>A	ENST00000290649.5	-	9	1382	c.1172G>T	c.(1171-1173)aGg>aTg	p.R391M		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	391					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ATGTTCTTCCCTGACACGATT	0.458													6	111	---	---	---	---	0	0
CCDC135	84229	broad.mit.edu	37	16	57752294	57752294	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:57752294G>T	ENST00000360716.3	+	9	1334	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	CCDC135_ENST00000394337.4_Missense_Mutation_p.W371C|CCDC135_ENST00000336825.8_Missense_Mutation_p.W306C			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	371						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGTGAGATGGGAGTACATGC	0.527													8	172	---	---	---	---	0	0
CDH5	1003	broad.mit.edu	37	16	66426285	66426285	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:66426285G>T	ENST00000563425.2	+	6	1329	c.1216G>T	c.(1216-1218)Ggg>Tgg	p.G406W	CDH5_ENST00000341529.3_Splice_Site_p.G406*			P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	406	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GCATAGCATTGGGTAAGGGGG	0.557													6	120	---	---	---	---	0	0
TPPP3	51673	broad.mit.edu	37	16	67424507	67424507	+	Nonsense_Mutation	SNP	C	C	A	rs11552321		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:67424507C>A	ENST00000564104.1	-	2	1058	c.217G>T	c.(217-219)Gag>Tag	p.E73*	TPPP3_ENST00000562206.1_Nonsense_Mutation_p.E73*|TPPP3_ENST00000290942.5_Nonsense_Mutation_p.E73*|TPPP3_ENST00000393957.2_Nonsense_Mutation_p.E73*			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	73					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TTGAACTCCTCATAGTTGATG	0.552													7	230	---	---	---	---	0	0
SLC12A4	6560	broad.mit.edu	37	16	67980429	67980429	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:67980429C>A	ENST00000422611.2	-	17	2394	c.2355G>T	c.(2353-2355)ctG>ctT	p.L785L	SLC12A4_ENST00000316341.3_Silent_p.L783L|SLC12A4_ENST00000572037.1_Silent_p.L735L|SLC12A4_ENST00000541864.2_Silent_p.L752L|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Silent_p.L783L|SLC12A4_ENST00000537830.2_Silent_p.L777L	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	783					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATGCCTCCCAGGCCACAGG	0.627													5	93	---	---	---	---	0	0
CDH3	1001	broad.mit.edu	37	16	68713813	68713813	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:68713813T>C	ENST00000264012.4	+	7	1347	c.803T>C	c.(802-804)cTc>cCc	p.L268P	CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	268	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCACACGACCTCATGTTCACC	0.552													4	98	---	---	---	---	0	0
AARS	16	broad.mit.edu	37	16	70303597	70303597	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:70303597G>T	ENST00000261772.8	-	7	1029	c.886C>A	c.(886-888)Cgg>Agg	p.R296R		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	296					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GCCAGCACCCGGTAGGCCATG	0.587													6	213	---	---	---	---	0	0
WWOX	51741	broad.mit.edu	37	16	78466600	78466600	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:78466600G>T	ENST00000566780.1	+	8	1373	c.1007G>T	c.(1006-1008)tGg>tTg	p.W336L	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.W336L|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	336	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CGCAGCTGGTGGGTGTACACA	0.552													8	273	---	---	---	---	0	0
KLHDC4	54758	broad.mit.edu	37	16	87782413	87782413	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:87782413C>A	ENST00000270583.5	-	5	430	c.372G>T	c.(370-372)gcG>gcT	p.A124A	KLHDC4_ENST00000347925.5_Silent_p.A124A|KLHDC4_ENST00000353170.5_Silent_p.A67A	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	124										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCACTACCACCGCCTGTGAAA	0.577													6	169	---	---	---	---	0	0
SLC7A5	8140	broad.mit.edu	37	16	87874706	87874706	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:87874706C>A	ENST00000261622.4	-	3	785	c.720G>T	c.(718-720)gtG>gtT	p.V240V	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	240					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CAATGTTCCCCACATCCAGTT	0.517													6	90	---	---	---	---	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348394	89348394	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:89348394C>A	ENST00000301030.4	-	9	5016	c.4556G>T	c.(4555-4557)aGg>aTg	p.R1519M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1519M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1519	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCCTCGTCCCTGGACTTGTC	0.612													6	91	---	---	---	---	0	0
FANCA	2175	broad.mit.edu	37	16	89806480	89806480	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:89806480G>T	ENST00000389301.3	-	39	3886	c.3856C>A	c.(3856-3858)Cac>Aac	p.H1286N	FANCA_ENST00000568369.1_Missense_Mutation_p.H1286N|ZNF276_ENST00000289816.5_3'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1286					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCACAAACGTGGAAAGCCTTT	0.542			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	297	---	---	---	---	0	0
GEMIN4	50628	broad.mit.edu	37	17	649429	649429	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:649429G>T	ENST00000576778.1	-	1	3162	c.1821C>A	c.(1819-1821)ccC>ccA	p.P607P	GEMIN4_ENST00000319004.5_Silent_p.P618P			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	618					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTTCTTCCTTGGGTGTAGAGA	0.507													8	161	---	---	---	---	0	0
TUSC5	286753	broad.mit.edu	37	17	1198824	1198824	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:1198824C>A	ENST00000333813.3	+	2	766	c.427C>A	c.(427-429)Cgg>Agg	p.R143R		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	143					response to biotic stimulus	integral to membrane		p.R143W(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGACGGCGCCCGGAGGCTGGG	0.622													6	172	---	---	---	---	0	0
METTL16	79066	broad.mit.edu	37	17	2323643	2323643	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:2323643C>A	ENST00000263092.6	-	10	1437	c.1310G>T	c.(1309-1311)cGg>cTg	p.R437L	METTL16_ENST00000538844.1_Missense_Mutation_p.R219L|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16								methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTCGCCTTCCCGCAGAGCAGG	0.647													6	175	---	---	---	---	0	0
OR1A1	8383	broad.mit.edu	37	17	3119035	3119035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:3119035G>T	ENST00000304094.1	+	1	121	c.121G>T	c.(121-123)Gga>Tga	p.G41*		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CACATTGATTGGAAACCTGCT	0.458													7	253	---	---	---	---	0	0
PLD2	5338	broad.mit.edu	37	17	4713047	4713047	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:4713047C>A	ENST00000263088.6	+	8	807	c.676C>A	c.(676-678)Cga>Aga	p.R226R	PLD2_ENST00000572940.1_Silent_p.R226R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	226	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CTGCTGTGGCCGAGACCAAGT	0.597													5	157	---	---	---	---	0	0
SAT2	112483	broad.mit.edu	37	17	7530473	7530473	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:7530473C>A	ENST00000269298.5	-	3	409	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W	SAT2_ENST00000380466.2_5'UTR|SAT2_ENST00000573566.1_Missense_Mutation_p.G64W|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	64	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	AGTAGCTTCCCGGGCGCTGGA	0.547													5	94	---	---	---	---	0	0
DNAH2	146754	broad.mit.edu	37	17	7696466	7696466	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:7696466C>A	ENST00000572933.1	+	48	8972	c.7512C>A	c.(7510-7512)ctC>ctA	p.L2504L	DNAH2_ENST00000389173.2_Silent_p.L2504L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2504	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCCGCCTCTGGATTGACT	0.517													5	88	---	---	---	---	0	0
GLP2R	9340	broad.mit.edu	37	17	9757884	9757884	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:9757884C>A	ENST00000262441.5	+	5	1090	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	GLP2R_ENST00000574745.1_Missense_Mutation_p.L13I	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	193					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTTATCTCCCTCTTCCTGGC	0.512													8	345	---	---	---	---	0	0
MYH8	4626	broad.mit.edu	37	17	10295964	10295964	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:10295964C>A	ENST00000403437.2	-	38	5558		c.e38-1		RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTCACGTACCTGCAGCCAAG	0.478									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	168	---	---	---	---	0	0
SMCR8	140775	broad.mit.edu	37	17	18219210	18219210	+	Missense_Mutation	SNP	C	C	A	rs147939354	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:18219210C>A	ENST00000406438.3	+	1	587	c.107C>A	c.(106-108)cCc>cAc	p.P36H		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	36										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCGCTCTTCCCCTTCGCCAGT	0.567													6	79	---	---	---	---	0	0
SPAG5	10615	broad.mit.edu	37	17	26910636	26910636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:26910636G>A	ENST00000321765.5	-	15	2910	c.2578C>T	c.(2578-2580)Cag>Tag	p.Q860*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	860					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTTGCTCCTGGTTATCTGCT	0.468													4	107	---	---	---	---	0	0
TLCD1	116238	broad.mit.edu	37	17	27051565	27051565	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:27051565G>T	ENST00000292090.3	-	4	817	c.707C>A	c.(706-708)cCc>cAc	p.P236H	TLCD1_ENST00000394933.3_Missense_Mutation_p.P189H	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	236						integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					TTGCTTCTTGGGGACATGCTC	0.527													7	184	---	---	---	---	0	0
MRM1	79922	broad.mit.edu	37	17	34958334	34958334	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:34958334G>T	ENST00000250156.7	+	1	334	c.95G>T	c.(94-96)gGg>gTg	p.G32V		NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	32					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CGGCCTGGTGGGGAGGAGCTA	0.677													6	106	---	---	---	---	0	0
MRM1	79922	broad.mit.edu	37	17	34964758	34964758	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:34964758C>A	ENST00000250156.7	+	5	1208	c.969C>A	c.(967-969)ccC>ccA	p.P323P	MRM1_ENST00000585770.1_Silent_p.P128P	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	323					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCAAGACCCCCAAGAACCCT	0.567													7	157	---	---	---	---	0	0
MLLT6	4302	broad.mit.edu	37	17	36865473	36865473	+	Silent	SNP	G	G	T	rs144559323		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:36865473G>T	ENST00000325718.7	+	5	493	c.402G>T	c.(400-402)tcG>tcT	p.S134S	MLLT6_ENST00000378137.5_Silent_p.S134S	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	134					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	p.S134S(1)		breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGGCGGCCTCGGGAGCCTGCA	0.642			T	MLL	AL								8	278	---	---	---	---	0	0
KRT13	3860	broad.mit.edu	37	17	39659272	39659272	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:39659272G>T	ENST00000246635.3	-	4	860	c.814C>A	c.(814-816)Cgc>Agc	p.R272S	KRT13_ENST00000336861.3_Missense_Mutation_p.R272S|KRT13_ENST00000587544.1_Missense_Mutation_p.R272S	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	272	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R272S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602													6	329	---	---	---	---	0	0
STAT3	6774	broad.mit.edu	37	17	40481454	40481454	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:40481454C>A	ENST00000264657.5	-	14	1567	c.1255G>T	c.(1255-1257)Ggg>Tgg	p.G419W	STAT3_ENST00000404395.3_Missense_Mutation_p.G419W|STAT3_ENST00000588969.1_Missense_Mutation_p.G419W|STAT3_ENST00000585517.1_Missense_Mutation_p.G419W|STAT3_ENST00000389272.3_Missense_Mutation_p.G321W	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	419					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCCCCATTCCCACATCTCTGC	0.522									Hyperimmunoglobulin E Recurrent Infection Syndrome				8	325	---	---	---	---	0	0
TUBG1	7283	broad.mit.edu	37	17	40764504	40764504	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:40764504C>A	ENST00000251413.3	+	5	521	c.459C>A	c.(457-459)ctC>ctA	p.L153L		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	153					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GTTCCTACCTCTTAGAACGGC	0.517													6	160	---	---	---	---	0	0
BRCA1	672	broad.mit.edu	37	17	41246133	41246133	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:41246133G>T	ENST00000309486.4	-	9	1554	c.527C>A	c.(526-528)cCc>cAc	p.P176H	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.P472H|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.P472H|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.P472H|BRCA1_ENST00000357654.3_Missense_Mutation_p.P472H|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.P425H|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	472					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTTAAGTTGGGGAGGCTTGC	0.358			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			7	149	---	---	---	---	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48216821	48216821	+	Silent	SNP	G	G	T	rs72840637	by1000genomes	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:48216821G>T	ENST00000316878.6	-	8	1988	c.1986C>A	c.(1984-1986)ccC>ccA	p.P662P	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	662	Interacts with TGN38 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	p.P661P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCAGCTTCTCGGGCTCCATGT	0.632													6	216	---	---	---	---	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48221049	48221049	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:48221049C>A	ENST00000316878.6	-	5	1535	c.1533G>T	c.(1531-1533)atG>atT	p.M511I	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	511	Interacts with RGS2 (By similarity).|PDZ.				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCCCGGCGCCCATGCCGATGA	0.632													7	113	---	---	---	---	0	0
C17orf47	284083	broad.mit.edu	37	17	56619235	56619235	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:56619235C>A	ENST00000321691.3	-	2	1835	c.1654G>T	c.(1654-1656)Ggg>Tgg	p.G552W	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	552										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGTCCTCCCATCCCCCAAG	0.488													6	158	---	---	---	---	0	0
CA4	762	broad.mit.edu	37	17	58236707	58236707	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:58236707G>T	ENST00000300900.4	+	8	960	c.861G>T	c.(859-861)ccG>ccT	p.P287P		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	287					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCGGGGCCCCGGGTCGGCCGC	0.662													4	11	---	---	---	---	0	0
USP32	84669	broad.mit.edu	37	17	58422902	58422902	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:58422902C>A	ENST00000300896.4	-	2	320	c.126G>T	c.(124-126)atG>atT	p.M42I	USP32_ENST00000393003.3_Missense_Mutation_p.M42I	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	42					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGTGCTGGCCCATGTAATATG	0.438													5	78	---	---	---	---	0	0
EVPL	2125	broad.mit.edu	37	17	74003831	74003831	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:74003831C>A	ENST00000301607.3	-	22	5708	c.5455G>T	c.(5455-5457)Ggg>Tgg	p.G1819W	EVPL_ENST00000586740.1_Missense_Mutation_p.G1841W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1819	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCACCGAGCCCGAGAGAGAAG	0.597													5	166	---	---	---	---	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622831	74622831	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:74622831C>A	ENST00000156626.7	-	5	1412	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	405					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GTCCGAGTCCCCACATCCTGT	0.522													8	291	---	---	---	---	0	0
CBX4	8535	broad.mit.edu	37	17	77808663	77808663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:77808663C>A	ENST00000269397.4	-	5	955	c.778G>T	c.(778-780)Gga>Tga	p.G260*		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	260	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACGATGCGTCCGTTCTTGTTC	0.592											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	340	---	---	---	---	0	0
SLC25A10	1468	broad.mit.edu	37	17	79682751	79682751	+	Silent	SNP	C	C	A	rs141437548		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:79682751C>A	ENST00000331531.5	+	4	477	c.357C>A	c.(355-357)ccC>ccA	p.P119P	SLC25A10_ENST00000541223.1_Silent_p.P274P|SLC25A10_ENST00000571730.1_Silent_p.P274P|SLC25A10_ENST00000350690.5_Silent_p.P119P|SLC25A10_ENST00000545862.1_Silent_p.P76P	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	119					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGGGGACGCCCGCAGACTTGG	0.657													6	139	---	---	---	---	0	0
HEXDC	284004	broad.mit.edu	37	17	80399061	80399061	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:80399061C>A	ENST00000337014.6	+	10	1645	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	HEXDC_ENST00000327949.9_Missense_Mutation_p.P361H|HEXDC_ENST00000577944.1_Silent_p.P363P	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	0					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGCTCCTTCCCTGGCAGCAAC	0.657													6	126	---	---	---	---	0	0
PPP4R1	9989	broad.mit.edu	37	18	9570166	9570166	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:9570166G>T	ENST00000400556.3	-	11	1635	c.1562C>A	c.(1561-1563)cCa>cAa	p.P521Q	PPP4R1_ENST00000400555.3_Missense_Mutation_p.P504Q	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	521					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TTTAACATCTGGATCATCAAT	0.353													5	100	---	---	---	---	0	0
ESCO1	114799	broad.mit.edu	37	18	19154035	19154035	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19154035G>T	ENST00000269214.5	-	4	1707	c.770C>A	c.(769-771)cCg>cAg	p.P257Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	257					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.P257Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTCTTTTTCGGGACCACTGA	0.413													7	327	---	---	---	---	0	0
GATA6	2627	broad.mit.edu	37	18	19780663	19780663	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19780663C>A	ENST00000269216.3	+	7	1942	c.1665C>A	c.(1663-1665)ccC>ccA	p.P555P	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.P555P	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	555					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCACCAATCCCGAGAACAGCG	0.607													5	134	---	---	---	---	0	0
DSG4	147409	broad.mit.edu	37	18	28993143	28993143	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:28993143G>T	ENST00000359747.4	+	15	2794	c.2765G>T	c.(2764-2766)gGg>gTg	p.G922V	DSG4_ENST00000308128.4_Missense_Mutation_p.G903V|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	903					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTGGTCCATGGGGATATTATT	0.423													6	138	---	---	---	---	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260212	44260212	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:44260212C>A	ENST00000315087.7	-	7	1584	c.924G>T	c.(922-924)gcG>gcT	p.A308A	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.A277A|ST8SIA5_ENST00000538168.1_Silent_p.A344A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	308					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCTCCAGCGCCGCAGTGACCA	0.607													4	100	---	---	---	---	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44284609	44284609	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:44284609C>A	ENST00000315087.7	-	2	810	c.150G>T	c.(148-150)gaG>gaT	p.E50D	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Intron|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E86D	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	50					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAAAAGGCCCCTCATAAAATT	0.512													6	128	---	---	---	---	0	0
CXXC1	30827	broad.mit.edu	37	18	47812543	47812543	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:47812543C>A	ENST00000285106.6	-	4	1022	c.308G>T	c.(307-309)cGg>cTg	p.R103L	CXXC1_ENST00000412036.2_Missense_Mutation_p.R103L|CXXC1_ENST00000589940.1_Missense_Mutation_p.R103L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	103					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.R103L(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCCTCATCCCGGGGCTCACT	0.642													6	166	---	---	---	---	0	0
DSEL	92126	broad.mit.edu	37	18	65179270	65179270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:65179270G>T	ENST00000310045.7	-	2	4079	c.2606C>A	c.(2605-2607)tCa>tAa	p.S869*	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	859						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACCAGGAAGTGAGGTAATGAC	0.428													7	356	---	---	---	---	0	0
ZNF236	7776	broad.mit.edu	37	18	74637406	74637406	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:74637406C>A	ENST00000253159.8	+	22	4115	c.3917C>A	c.(3916-3918)cCa>cAa	p.P1306Q	ZNF236_ENST00000320610.9_Missense_Mutation_p.P1308Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1306					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCTACTGACCCAAACGTGTTT	0.488													5	105	---	---	---	---	0	0
AES	166	broad.mit.edu	37	19	3055700	3055700	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:3055700C>A	ENST00000221561.8	-	5	639	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	AES_ENST00000327141.4_Missense_Mutation_p.G87W|AES_ENST00000592330.1_Intron|AES_ENST00000586839.1_Missense_Mutation_p.G31W	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	87	Gly/Pro-rich (GP domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAAATCCCGTTCAGCCTT	0.652													4	79	---	---	---	---	0	0
MYO1F	4542	broad.mit.edu	37	19	8595449	8595449	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:8595449G>T	ENST00000338257.8	-	20	2319	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	684						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCTCCTCCAGGAGGAAAAGCT	0.652													6	104	---	---	---	---	0	0
CCDC151	115948	broad.mit.edu	37	19	11531589	11531589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:11531589C>A	ENST00000356392.4	-	13	1789	c.1702G>T	c.(1702-1704)Gag>Tag	p.E568*	CCDC151_ENST00000545100.1_Nonsense_Mutation_p.E514*|CCDC151_ENST00000591179.1_Nonsense_Mutation_p.E508*|CCDC151_ENST00000586836.1_Nonsense_Mutation_p.E377*	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	568										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GTCACTACCTCGTTGTCCTCC	0.577													4	96	---	---	---	---	0	0
SYDE1	85360	broad.mit.edu	37	19	15224692	15224692	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:15224692C>A	ENST00000600252.1	+	5	2739	c.1097C>A	c.(1096-1098)cCg>cAg	p.P366Q	SYDE1_ENST00000600440.1_Missense_Mutation_p.P642Q|SYDE1_ENST00000342784.2_Missense_Mutation_p.P709Q			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	709					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCCTTCAACCCGCACCTGAAT	0.607													7	201	---	---	---	---	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794491	15794491	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:15794491C>A	ENST00000550308.1	+	7	1216	c.836C>A	c.(835-837)cCc>cAc	p.P279H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.P279H	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CGCACCCTCCCCACTCAGGGT	0.532													7	141	---	---	---	---	0	0
KLHL26	55295	broad.mit.edu	37	19	18780060	18780060	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:18780060C>A	ENST00000599006.1	+	4	441	c.414C>A	c.(412-414)ccC>ccA	p.P138P	KLHL26_ENST00000300976.4_3'UTR			Q53HC5	KLH26_HUMAN	kelch-like family member 26	0										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGTAGCCCCCAAGACCCCCG	0.701													5	70	---	---	---	---	0	0
NCAN	1463	broad.mit.edu	37	19	19339217	19339217	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:19339217C>A	ENST00000252575.6	+	8	2887	c.2788C>A	c.(2788-2790)Cct>Act	p.P930T	NCAN_ENST00000538881.1_Missense_Mutation_p.P381T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGCTGTTCCTCCTGGGACACC	0.637													7	146	---	---	---	---	0	0
ZNF536	9745	broad.mit.edu	37	19	31039790	31039790	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:31039790G>T	ENST00000355537.3	+	4	3411	c.3264G>T	c.(3262-3264)ctG>ctT	p.L1088L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1088					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGAGACTCTGGGAGAGCAGA	0.517													5	67	---	---	---	---	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769360	31769360	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:31769360G>T	ENST00000240587.4	-	2	1666	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	447					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGGCTGCCAGGGGCACGGAC	0.557													6	123	---	---	---	---	0	0
GPI	2821	broad.mit.edu	37	19	34857283	34857283	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:34857283G>T	ENST00000415930.3	+	3	443	c.273G>T	c.(271-273)ctG>ctT	p.L91L	GPI_ENST00000356487.5_Silent_p.L52L|GPI_ENST00000586425.1_Silent_p.L52L	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	52					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGCATATCCTGGTGGATTACT	0.552													7	160	---	---	---	---	0	0
GAPDHS	26330	broad.mit.edu	37	19	36027833	36027833	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36027833C>A	ENST00000222286.4	+	2	302	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	62					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CTCCTCACCCCGCTACTCCTC	0.592													5	99	---	---	---	---	0	0
CLIP3	25999	broad.mit.edu	37	19	36508789	36508789	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36508789C>A	ENST00000360535.4	-	10	1515	c.1288G>T	c.(1288-1290)Ggg>Tgg	p.G430W	CLIP3_ENST00000593074.1_Missense_Mutation_p.G430W|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	430					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCACGATCCCCTGCTTCTGG	0.632													6	106	---	---	---	---	0	0
WDR62	284403	broad.mit.edu	37	19	36594583	36594583	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36594583C>A	ENST00000401500.2	+	30	3888	c.3853C>A	c.(3853-3855)Ctg>Atg	p.L1285M	WDR62_ENST00000270301.7_Missense_Mutation_p.L1280M	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1280					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAGCCTGCCCTGCGTTCCTG	0.662													6	100	---	---	---	---	0	0
ZNF585A	199704	broad.mit.edu	37	19	37646805	37646805	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:37646805C>A	ENST00000356958.4	-	4	512	c.254G>T	c.(253-255)tGg>tTg	p.W85L	ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000392157.2_Missense_Mutation_p.W30L|ZNF585A_ENST00000292841.5_Missense_Mutation_p.W30L|ZNF585A_ENST00000355533.2_Missense_Mutation_p.W30L			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGCAGTGCCCATGGTTCCTT	0.512													5	87	---	---	---	---	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677025	37677025	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:37677025C>A	ENST00000532828.2	-	5	1665	c.1414G>T	c.(1414-1416)Ggg>Tgg	p.G472W	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G60W|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G417W|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGCCTTCCCACATTTATTG	0.393													7	135	---	---	---	---	0	0
ZNF607	84775	broad.mit.edu	37	19	38190150	38190150	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:38190150G>T	ENST00000355202.4	-	5	1477	c.882C>A	c.(880-882)tcC>tcA	p.S294S	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.S293S	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCACAAGGTGGGAAAACTGAC	0.428													6	91	---	---	---	---	0	0
SNRPA	6626	broad.mit.edu	37	19	41257332	41257332	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:41257332C>A	ENST00000243563.3	+	1	569	c.19C>A	c.(19-21)Cgc>Agc	p.R7S	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	7						nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCCGAGACCCGCCCTAACCA	0.493													6	208	---	---	---	---	0	0
DMRTC2	63946	broad.mit.edu	37	19	42353218	42353218	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:42353218C>A	ENST00000269945.3	+	6	700	c.649C>A	c.(649-651)Ctc>Atc	p.L217I	DMRTC2_ENST00000596827.1_Missense_Mutation_p.L217I	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	217	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGGCACCTCCCTCCAGCTGCC	0.557													7	163	---	---	---	---	0	0
PSG1	0	broad.mit.edu	37	19	43382176	43382176	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:43382176G>T	ENST00000244296.2	-	2	456	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	PSG1_ENST00000436291.2_Missense_Mutation_p.L107M|PSG1_ENST00000595124.1_Missense_Mutation_p.L107M|PSG1_ENST00000403380.3_Missense_Mutation_p.L107M|PSG1_ENST00000312439.6_Missense_Mutation_p.L107M|PSG1_ENST00000595356.1_Missense_Mutation_p.L107M|PSG1_ENST00000601073.1_5'UTR	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGATCAGCAGGGATGCATTG	0.448													10	478	---	---	---	---	0	0
XRCC1	7515	broad.mit.edu	37	19	44050812	44050812	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:44050812G>T	ENST00000262887.5	-	12	1908	c.1361C>A	c.(1360-1362)cCt>cAt	p.P454H	XRCC1_ENST00000543982.1_Missense_Mutation_p.P423H			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	454					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGTCTCTTCAGGGGTTGGGGG	0.612								Other BER factors					7	199	---	---	---	---	0	0
CEACAM20	125931	broad.mit.edu	37	19	45029262	45029262	+	RNA	SNP	A	A	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45029262A>G	ENST00000454753.1	-	0	346							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGACTCCATACGGTACAAAG	0.587													35	85	---	---	---	---	0	0
BCL3	602	broad.mit.edu	37	19	45262794	45262794	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45262794C>A	ENST00000164227.5	+	9	1531	c.1287C>A	c.(1285-1287)ccC>ccA	p.P429P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	429	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	p.P421P(2)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CATCTCCACCCGCCTTCCTGC	0.682			T	IGH@	CLL								5	192	---	---	---	---	0	0
PVRL2	5819	broad.mit.edu	37	19	45389443	45389443	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45389443C>A	ENST00000252483.5	+	8	1314	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	438					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCAAGACCCCCTACTTTGATG	0.647													5	68	---	---	---	---	0	0
HSD17B14	51171	broad.mit.edu	37	19	49339660	49339660	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:49339660C>A	ENST00000263278.4	-	1	275	c.9G>T	c.(7-9)acG>acT	p.T3T	HSD17B14_ENST00000599157.1_Silent_p.T3T	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	3					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		AGCGCGTTCCCGTAGCCATCC	0.647											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	68	---	---	---	---	0	0
ZNF473	25888	broad.mit.edu	37	19	50549573	50549573	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:50549573G>T	ENST00000595661.1	+	6	2368	c.1873G>T	c.(1873-1875)Ggg>Tgg	p.G625W	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.G613W|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G625W|ZNF473_ENST00000270617.3_Missense_Mutation_p.G625W			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	625					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GGGTGAGCAAGGGAAAGCCAT	0.478													5	69	---	---	---	---	0	0
ZNF578	147660	broad.mit.edu	37	19	53008033	53008033	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:53008033G>T	ENST00000421239.2	+	5	433	c.189G>T	c.(187-189)gtG>gtT	p.V63V		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGAGGCTGTGGGTGAGGAAA	0.483													7	185	---	---	---	---	0	0
ZNF468	90333	broad.mit.edu	37	19	53345186	53345186	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:53345186C>A	ENST00000595646.1	-	4	481	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.G68C|ZNF468_ENST00000396409.4_Missense_Mutation_p.G68C|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCTGTACTACCAGCCAACTCT	0.428													6	225	---	---	---	---	0	0
LILRA6	79168	broad.mit.edu	37	19	54744952	54744952	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:54744952G>T	ENST00000440558.2	-	5	758	c.710C>A	c.(709-711)cCt>cAt	p.P237H	LILRA6_ENST00000396365.2_Missense_Mutation_p.P237H|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.P237H|LILRA6_ENST00000245621.5_Missense_Mutation_p.P237H					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTCTGCCCAGGGGCCAGGAC	0.637													6	79	---	---	---	---	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677910	55677910	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:55677910C>A	ENST00000527223.2	-	1	108	c.107G>T	c.(106-108)cGg>cTg	p.R36L	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.R36L|DNAAF3_ENST00000524407.2_5'UTR	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	0																	CCAAATATCCCGGGACGCCCC	0.622											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	201	---	---	---	---	0	0
ZNF132	7691	broad.mit.edu	37	19	58948496	58948496	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:58948496C>A	ENST00000254166.3	-	2	550	c.150G>T	c.(148-150)gaG>gaT	p.E50D		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	50	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCTCCCACTCCTCTTGGGAGA	0.512													5	54	---	---	---	---	0	0
CSNK2A1	1457	broad.mit.edu	37	20	476423	476423	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:476423C>A	ENST00000217244.3	-	8	825	c.450G>T	c.(448-450)atG>atT	p.M150I	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.M150I|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.M150I|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.M14I	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	150	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.M150I(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GCATAATTCCCATGCTGTGAC	0.408													7	87	---	---	---	---	0	0
ATRN	8455	broad.mit.edu	37	20	3564686	3564686	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:3564686C>A	ENST00000262919.5	+	17	2974	c.2906C>A	c.(2905-2907)cCt>cAt	p.P969H	ATRN_ENST00000446916.2_Missense_Mutation_p.P969H	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	969	PSI 3.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCTCCTTCCCTTTTGGCCAG	0.537													8	316	---	---	---	---	0	0
FLRT3	23767	broad.mit.edu	37	20	14306228	14306228	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:14306228G>T	ENST00000378053.3	-	2	2181	c.1925C>A	c.(1924-1926)cCa>cAa	p.P642Q	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.P642Q	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	642					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ATCTGAGTCTGGAATACCACT	0.413													6	155	---	---	---	---	0	0
ACSS1	84532	broad.mit.edu	37	20	24993555	24993555	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:24993555C>A	ENST00000537502.1	-	9	2882	c.1351G>T	c.(1351-1353)Ggg>Tgg	p.G451W	ACSS1_ENST00000542618.1_Missense_Mutation_p.G413W|ACSS1_ENST00000432802.2_Missense_Mutation_p.G534W|ACSS1_ENST00000323482.4_Missense_Mutation_p.G534W			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	534					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGGTAAGCCCCGTCTCCAGTG	0.567													5	95	---	---	---	---	0	0
FOXS1	2307	broad.mit.edu	37	20	30432472	30432472	+	Missense_Mutation	SNP	G	G	A	rs2296917		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:30432472G>A	ENST00000375978.3	-	1	948	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	292			P -> A (in dbSNP:rs2296917).		anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGGTCAGTTGGCAGGGGCAGT	0.687													5	40	---	---	---	---	0	0
SUN5	140732	broad.mit.edu	37	20	31571702	31571702	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:31571702C>A	ENST00000356173.3	-	13	1130	c.1038G>T	c.(1036-1038)tgG>tgT	p.W346C	SUN5_ENST00000375523.3_Missense_Mutation_p.W321C	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	346	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTGGGTTCCCCCAGTTGCTTG	0.597													6	119	---	---	---	---	0	0
RBM39	9584	broad.mit.edu	37	20	34312596	34312596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:34312596C>A	ENST00000361162.6	-	8	967	c.583G>T	c.(583-585)Gga>Tga	p.G195*	RBM39_ENST00000407261.4_Nonsense_Mutation_p.G38*|RBM39_ENST00000528062.3_Nonsense_Mutation_p.G173*|RBM39_ENST00000253363.6_Nonsense_Mutation_p.G195*	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	195	RRM 1.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAAGCAATTCCTTTGGAACGT	0.418													7	85	---	---	---	---	0	0
TTI1	9675	broad.mit.edu	37	20	36640476	36640476	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:36640476C>A	ENST00000373448.2	-	3	1981	c.1743G>T	c.(1741-1743)atG>atT	p.M581I	TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Missense_Mutation_p.M581I|TTI1_ENST00000373447.3_Missense_Mutation_p.M581I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	581							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GCTCCTCTCCCATTTCCTCAG	0.448													7	223	---	---	---	---	0	0
RALGAPB	57148	broad.mit.edu	37	20	37194025	37194025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:37194025G>T	ENST00000262879.6	+	25	4005	c.3721G>T	c.(3721-3723)Gga>Tga	p.G1241*	RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.G1020*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.G1238*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.G1241*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1241	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGAAGATATTGGAGCTAGCAT	0.383													6	174	---	---	---	---	0	0
CHD6	0	broad.mit.edu	37	20	40052148	40052148	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:40052148G>T	ENST00000373233.3	-	30	4716	c.4539C>A	c.(4537-4539)ccC>ccA	p.P1513P		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1513					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTTTCCATGTGGGTAGACGAC	0.408													10	513	---	---	---	---	0	0
PIGT	51604	broad.mit.edu	37	20	44054219	44054219	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:44054219C>A	ENST00000279036.6	+	12	1570	c.1490C>A	c.(1489-1491)cCa>cAa	p.P497Q	PIGT_ENST00000372689.5_Missense_Mutation_p.P430Q|PIGT_ENST00000543458.2_Missense_Mutation_p.P441Q|PIGT_ENST00000535404.1_Missense_Mutation_p.P342Q|PIGT_ENST00000341555.5_Missense_Mutation_p.P303Q|PIGT_ENST00000545755.1_Missense_Mutation_p.P235Q|PIGT_ENST00000279035.9_Missense_Mutation_p.P395Q	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	497					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCCAGGTTCCCAGTCTCTGAT	0.587													4	34	---	---	---	---	0	0
ZNF334	55713	broad.mit.edu	37	20	45130191	45130191	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:45130191C>A	ENST00000457685.2	-	6	2996	c.1673G>T	c.(1672-1674)gGg>gTg	p.G558V	ZNF334_ENST00000347606.4_Missense_Mutation_p.G596V|ZNF334_ENST00000593880.1_Missense_Mutation_p.G619V			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGGTTTCTCCCCAGTGTGAGT	0.428													7	124	---	---	---	---	0	0
PREX1	57580	broad.mit.edu	37	20	47317359	47317359	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:47317359C>A	ENST00000396220.1	-	7	871	c.849G>T	c.(847-849)gcG>gcT	p.A283A	PREX1_ENST00000371941.3_Silent_p.A283A			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	283	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.A283A(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGATGTTGCCCGCAGAGATCT	0.547													6	230	---	---	---	---	0	0
BCAS1	8537	broad.mit.edu	37	20	52644936	52644936	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:52644936C>A	ENST00000395961.3	-	4	884	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	BCAS1_ENST00000371440.3_Missense_Mutation_p.G240W|BCAS1_ENST00000371435.2_Missense_Mutation_p.G240W|BCAS1_ENST00000411563.1_Missense_Mutation_p.G143W	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	240						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTTACCTTCCCTGCAGGGACA	0.557													7	198	---	---	---	---	0	0
DIDO1	11083	broad.mit.edu	37	20	61513251	61513251	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:61513251C>A	ENST00000266070.4	-	16	4382	c.4057G>T	c.(4057-4059)Ggg>Tgg	p.G1353W	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1353					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCGGCACCCCGTCCTCTGCT	0.577													5	163	---	---	---	---	0	0
MYT1	4661	broad.mit.edu	37	20	62854504	62854504	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:62854504G>T	ENST00000536311.1	+	15	2882	c.2518G>T	c.(2518-2520)Ggg>Tgg	p.G840W	MYT1_ENST00000360149.4_Missense_Mutation_p.G515W|MYT1_ENST00000328439.1_Missense_Mutation_p.G813W			Q01538	MYT1_HUMAN	myelin transcription factor 1	813					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCACATCACCGGGAACTACGC	0.637													5	192	---	---	---	---	0	0
LTN1	26046	broad.mit.edu	37	21	30304866	30304866	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:30304866C>A	ENST00000389194.2	-	28	5139	c.5134G>T	c.(5134-5136)Ggg>Tgg	p.G1712W	LTN1_ENST00000361371.5_Missense_Mutation_p.G1666W	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1666							ligase activity|zinc ion binding	p.G1666W(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACTCTTTTCCCACTTTCTACT	0.403													7	264	---	---	---	---	0	0
PAXBP1	94104	broad.mit.edu	37	21	34117169	34117169	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:34117169C>A	ENST00000331923.4	-	13	2313	c.2124G>T	c.(2122-2124)gtG>gtT	p.V708V	PAXBP1_ENST00000290178.4_Silent_p.V708V	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1									p.V708V(1)									GTGTAATTCCCACCATTCTTG	0.318													6	177	---	---	---	---	0	0
PRDM15	63977	broad.mit.edu	37	21	43223036	43223036	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:43223036C>A	ENST00000422911.1	-	24	3051	c.2950G>T	c.(2950-2952)Ggg>Tgg	p.G984W	PRDM15_ENST00000538201.1_Missense_Mutation_p.G947W|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.G964W|PRDM15_ENST00000447207.2_Missense_Mutation_p.G927W|PRDM15_ENST00000269844.3_Missense_Mutation_p.G1293W	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCAGCTTTCCCGTGCTTCCCT	0.577													6	298	---	---	---	---	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951361	46951361	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:46951361G>T	ENST00000311124.4	-	3	1043	c.891C>A	c.(889-891)ccC>ccA	p.P297P	SLC19A1_ENST00000567670.1_Silent_p.P297P|SLC19A1_ENST00000380010.4_Silent_p.P297P|SLC19A1_ENST00000485649.2_Silent_p.P257P	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	297					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		TGTTGGTGGTGGGGTCCACCT	0.657													5	95	---	---	---	---	0	0
POTEH	23784	broad.mit.edu	37	22	16287667	16287667	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:16287667C>A	ENST00000343518.6	-	1	270	c.219G>T	c.(217-219)agG>agT	p.R73S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	73								p.R73R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCCGCTCCCCCTGCACCAGG	0.577													8	329	---	---	---	---	0	0
CECR1	51816	broad.mit.edu	37	22	17688080	17688080	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:17688080C>A	ENST00000399839.1	-	3	693	c.423G>T	c.(421-423)agG>agT	p.R141S	CECR1_ENST00000449907.2_Missense_Mutation_p.R99S|CECR1_ENST00000399837.2_Missense_Mutation_p.R141S|CECR1_ENST00000262607.3_Missense_Mutation_p.R141S	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	141	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GCATGATCCCCCTTGGGGTGA	0.537													6	130	---	---	---	---	0	0
CLTCL1	8218	broad.mit.edu	37	22	19198013	19198013	+	Silent	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:19198013T>C	ENST00000263200.10	-	20	3144	c.3072A>G	c.(3070-3072)ctA>ctG	p.L1024L	CLTCL1_ENST00000427926.1_Silent_p.L1024L|CLTCL1_ENST00000353891.5_Silent_p.L1024L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1024	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACAGATTCTGTAGATTCCTGA	0.552			T	?	ALCL								3	47	---	---	---	---	0	0
YPEL1	29799	broad.mit.edu	37	22	22065049	22065049	+	Translation_Start_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:22065049C>A	ENST00000339468.3	-	0	368				YPEL1_ENST00000403503.1_De_novo_Start_OutOfFrame	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)							nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CTGGGCACTCCTCACTCAGCT	0.532													6	149	---	---	---	---	0	0
RAB36	9609	broad.mit.edu	37	22	23500217	23500217	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:23500217C>A	ENST00000263116.2	+	7	671	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	RAB36_ENST00000341989.4_Missense_Mutation_p.L189M	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	211					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CGTGCAGACCCTGGAGCATAC	0.627													7	192	---	---	---	---	0	0
BCR	613	broad.mit.edu	37	22	23524102	23524102	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:23524102C>A	ENST00000305877.8	+	1	1706	c.955C>A	c.(955-957)Cgg>Agg	p.R319R	BCR_ENST00000359540.3_Silent_p.R319R|BCR_ENST00000398512.5_Silent_p.R319R	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	319	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTACTCCCCCCGGAGTTTTGA	0.652			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								3	21	---	---	---	---	0	0
FAM211B	388886	broad.mit.edu	37	22	24982284	24982284	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:24982284C>T	ENST00000318753.8	-	4	541	c.518G>A	c.(517-519)cGc>cAc	p.R173H	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	173																	GCTCAGGTAGCGTGTGATGTG	0.627													81	130	---	---	---	---	0	0
TMEM211	255349	broad.mit.edu	37	22	25331314	25331314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:25331314C>A	ENST00000407886.1	-	4	628	c.376G>T	c.(376-378)Gaa>Taa	p.E126*	TMEM211_ENST00000423535.1_Nonsense_Mutation_p.E197*|TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*			Q6ICI0	TM211_HUMAN	transmembrane protein 211	197						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGTTCATTTCTGGCACAAAG	0.493													42	80	---	---	---	---	0	0
ASCC2	84164	broad.mit.edu	37	22	30200815	30200815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:30200815C>A	ENST00000397771.2	-	14	1342	c.1165G>T	c.(1165-1167)Gag>Tag	p.E389*	ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E389*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E313*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTCCGCGTCTCGTCCCTGTGA	0.547													6	232	---	---	---	---	0	0
MORC2	22880	broad.mit.edu	37	22	31328983	31328983	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:31328983C>A	ENST00000397641.3	-	22	2823	c.2415G>T	c.(2413-2415)agG>agT	p.R805S	MORC2_ENST00000215862.4_Missense_Mutation_p.R743S			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGTACCACTCCCTGTTCACAC	0.577													9	317	---	---	---	---	0	0
IL3RA	3563	broad.mit.edu	37	X	1464312	1464312	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:1464312C>A	ENST00000331035.4	+	3	517	c.168C>A	c.(166-168)gcC>gcA	p.A56A	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	56						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTAAAGACGCCGACTATTCTA	0.348													5	225	---	---	---	---	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811275	5811275	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:5811275G>T	ENST00000381095.3	-	6	2661	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	NLGN4X_ENST00000275857.6_Silent_p.T678T|NLGN4X_ENST00000381093.2_Silent_p.T698T|NLGN4X_ENST00000381092.1_Silent_p.T678T|NLGN4X_ENST00000538097.1_Silent_p.T678T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	678					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.T678T(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGACGGCAATGGTGACACTTA	0.512													5	77	---	---	---	---	0	0
KAL1	3730	broad.mit.edu	37	X	8502428	8502428	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:8502428G>T	ENST00000262648.3	-	13	2065	c.1916C>A	c.(1915-1917)cCa>cAa	p.P639Q		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	639	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CTCCCCTCCTGGGGTCAGCAC	0.562													4	20	---	---	---	---	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48847438	48847438	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:48847438G>T	ENST00000376423.4	-	6	415	c.383C>A	c.(382-384)cCc>cAc	p.P128H	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.P136H|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.P181H|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.P181H			Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	181						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAGGACGGTGGGGGCCGGGCC	0.607													5	47	---	---	---	---	0	0
SYP	6855	broad.mit.edu	37	X	49050744	49050744	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:49050744G>T	ENST00000263233.4	-	4	374	c.302C>A	c.(301-303)tCc>tAc	p.S101Y	SYP_ENST00000538567.1_5'UTR|SYP_ENST00000479808.1_Missense_Mutation_p.S101Y	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	101	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GGCTGACGAGGAGTAGTCCCC	0.572													4	31	---	---	---	---	0	0
SLC6A14	11254	broad.mit.edu	37	X	115572207	115572207	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:115572207G>T	ENST00000371900.4	+	3	376	c.288G>T	c.(286-288)ctG>ctT	p.L96L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	96					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AGTGTTCACTGGGACAATTTG	0.388													6	168	---	---	---	---	0	0
DUSP9	1852	broad.mit.edu	37	X	152915608	152915608	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:152915608G>T	ENST00000342782.3	+	4	1268	c.1003G>T	c.(1003-1005)Ggg>Tgg	p.G335W	DUSP9_ENST00000370167.4_Missense_Mutation_p.G335W			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	335	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACTTCATGGGGCAGTTGCT	0.602													6	122	---	---	---	---	0	0
UTP11L	51118	broad.mit.edu	37	1	38478519	38478519	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:38478519A>C	ENST00000373014.4	+	1	106	c.45A>C	c.(43-45)gaA>gaC	p.E15D	UTP11L_ENST00000537711.1_Missense_Mutation_p.E15D	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	15					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGCAGCGGGAACACAGAGAGC	0.612													23	82	---	---	---	---	0	0
BCAS2	10286	broad.mit.edu	37	1	115123932	115123932	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:115123932A>C	ENST00000369541.3	-	2	221	c.174T>G	c.(172-174)taT>taG	p.Y58*	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	58					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAGGCAGAATAATCCGGGG	0.448													18	178	---	---	---	---	0	0
FLG2	388698	broad.mit.edu	37	1	152324080	152324080	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:152324080G>A	ENST00000388718.5	-	3	6254	c.6182C>T	c.(6181-6183)tCa>tTa	p.S2061L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2061							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGGATCCTGACTCTCCATG	0.532													53	485	---	---	---	---	0	0
LCE1C	353133	broad.mit.edu	37	1	152777721	152777721	+	Silent	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:152777721G>A	ENST00000368768.1	-	2	284	c.234C>T	c.(232-234)agC>agT	p.S78S	LCE1C_ENST00000607093.1_Silent_p.S78S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	78	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTGTGGTGGCTCAGGCAGC	0.706													8	63	---	---	---	---	0	0
ZBTB41	360023	broad.mit.edu	37	1	197169426	197169426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:197169426G>A	ENST00000367405.4	-	1	246	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGCTTTCTCTGATCTGGAGAG	0.383													7	57	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179449074	179449074	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr2:179449074T>C	ENST00000589042.1	-	311	65428	c.65204A>G	c.(65203-65205)tAt>tGt	p.Y21735C	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y19167C|TTN_ENST00000359218.5_Missense_Mutation_p.Y12795C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y12862C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y20094C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y12670C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20094	Ig-like 114.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTAGGGCATAGATTCTGAA	0.428													6	97	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179615125	179615125	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr2:179615125A>C	ENST00000360870.5	-	46	12224	c.12002T>G	c.(12001-12003)tTa>tGa	p.L4001*	TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9817							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAAGAGTTAATATTGAATA	0.333													5	55	---	---	---	---	0	0
NAT6	24142	broad.mit.edu	37	3	50334946	50334946	+	Silent	SNP	A	A	C			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr3:50334946A>C	ENST00000354862.4	-	2	216	c.15T>G	c.(13-15)acT>acG	p.T5T	HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443094.2_5'UTR|NAT6_ENST00000443842.1_5'UTR|NAT6_ENST00000417393.1_5'UTR|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron	NM_012191.3	NP_036323.2			N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CAGGGCTCAGAGTCAGCTCTT	0.602													4	18	---	---	---	---	0	0
CP	1356	broad.mit.edu	37	3	148895640	148895640	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr3:148895640C>A	ENST00000264613.6	-	17	3267	c.3005G>T	c.(3004-3006)aGc>aTc	p.S1002I		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	1002	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTATTGGAAGCTATGGCCGTG	0.393													5	99	---	---	---	---	0	0
LEPREL1	55214	broad.mit.edu	37	3	189702344	189702344	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr3:189702344C>A	ENST00000319332.5	-	7	1421	c.1224G>T	c.(1222-1224)gaG>gaT	p.E408D	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E227D	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	408					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTTACCGATTCTCATCCTGTC	0.328													3	44	---	---	---	---	0	0
EGF	1950	broad.mit.edu	37	4	110864414	110864414	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr4:110864414T>G	ENST00000265171.5	+	3	777	c.332T>G	c.(331-333)gTa>gGa	p.V111G	EGF_ENST00000503392.1_Missense_Mutation_p.V111G|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Missense_Mutation_p.V111G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	111					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTGCAGAGAGTATGTAATATA	0.249													11	35	---	---	---	---	0	0
COL9A1	1297	broad.mit.edu	37	6	70961830	70961830	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr6:70961830C>T	ENST00000357250.6	-	28	2023	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G379E|COL9A1_ENST00000320755.7_Missense_Mutation_p.G379E	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	622	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CACAGGAAGCCCCTGGGGTCC	0.488													4	136	---	---	---	---	0	0
DNAH11	8701	broad.mit.edu	37	7	21826345	21826345	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr7:21826345A>G	ENST00000328843.6	+	60	9753	c.9722A>G	c.(9721-9723)aAa>aGa	p.K3241R	DNAH11_ENST00000409508.3_Missense_Mutation_p.K3234R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3241	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAGTGCCCAAAGACCGAAGT	0.493									Kartagener syndrome				15	94	---	---	---	---	0	0
ELMO1	9844	broad.mit.edu	37	7	36910037	36910037	+	Silent	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr7:36910037G>A	ENST00000310758.4	-	20	2513	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	ELMO1_ENST00000448602.1_Silent_p.C622C|ELMO1_ENST00000341056.3_Silent_p.C324C|ELMO1_ENST00000396045.3_Silent_p.C142C|ELMO1_ENST00000442504.1_Silent_p.C622C|ELMO1_ENST00000396040.2_Silent_p.C142C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	622	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCATATGAGGGCAGTCCTTTC	0.433													6	76	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100678485	100678485	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr7:100678485C>T	ENST00000306151.4	+	3	3852	c.3788C>T	c.(3787-3789)gCt>gTt	p.A1263V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1263	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTACAACCGCTGAAGGTACC	0.522													84	293	---	---	---	---	0	0
CRYGN	155051	broad.mit.edu	37	7	151127216	151127216	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr7:151127216G>C	ENST00000337323.2	-	4	593	c.467C>G	c.(466-468)tCt>tGt	p.S156C	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000491928.1_3'UTR|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	156										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATTGAAGAGAGCTGCTCAG	0.552													7	44	---	---	---	---	0	0
LZTS1	11178	broad.mit.edu	37	8	20110914	20110914	+	Silent	SNP	C	C	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr8:20110914C>T	ENST00000381569.1	-	3	885	c.528G>A	c.(526-528)cgG>cgA	p.R176R	LZTS1_ENST00000265801.6_Silent_p.R176R|LZTS1_ENST00000522290.1_Silent_p.R176R			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	176					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ACATGGAGTTCCGGCCGGAGT	0.672													4	24	---	---	---	---	0	0
LINGO2	158038	broad.mit.edu	37	9	27950458	27950458	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr9:27950458C>A	ENST00000379992.2	-	6	661	c.212G>T	c.(211-213)aGc>aTc	p.S71I	LINGO2_ENST00000308675.3_Missense_Mutation_p.S71I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	71						integral to membrane		p.S71N(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGGTTGACGCTTTTTAGCCT	0.438													18	171	---	---	---	---	0	0
ZNF462	58499	broad.mit.edu	37	9	109685642	109685642	+	Translation_Start_Site	SNP	A	A	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr9:109685642A>T	ENST00000277225.5	+	0	267				RP11-508N12.4_ENST00000451160.2_De_novo_Start_OutOfFrame|ZNF462_ENST00000457913.1_De_novo_Start_OutOfFrame			Q96JM2	ZN462_HUMAN	zinc finger protein 462						transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGGTTCCTAATGTGAGAGGC	0.448													5	49	---	---	---	---	0	0
OR5D18	219438	broad.mit.edu	37	11	55587196	55587196	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr11:55587196G>T	ENST00000333976.4	+	1	111	c.91G>T	c.(91-93)Gtt>Ttt	p.V31F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V31F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTCTTCCTGGTTTTTCTGGC	0.458													4	79	---	---	---	---	0	0
LTBP3	4054	broad.mit.edu	37	11	65314313	65314313	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr11:65314313G>T	ENST00000301873.5	-	15	2454	c.2186C>A	c.(2185-2187)gCc>gAc	p.A729D	LTBP3_ENST00000322147.4_Missense_Mutation_p.A729D|LTBP3_ENST00000532932.1_Missense_Mutation_p.A159D|LTBP3_ENST00000536982.1_Missense_Mutation_p.A355D	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	729	Cys-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGCTGACAGGCGATGCACTT	0.692													15	44	---	---	---	---	0	0
RSF1	51773	broad.mit.edu	37	11	77412339	77412339	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr11:77412339T>G	ENST00000308488.6	-	6	2237	c.1935A>C	c.(1933-1935)aaA>aaC	p.K645N	RSF1_ENST00000360355.2_Missense_Mutation_p.K614N|RSF1_ENST00000480887.1_Missense_Mutation_p.K393N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	645					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTACCACTTCTTTTTCTGAGG	0.438													18	179	---	---	---	---	0	0
CCDC15	80071	broad.mit.edu	37	11	124857123	124857123	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr11:124857123A>G	ENST00000529051.1	+	8	1260	c.1001A>G	c.(1000-1002)gAt>gGt	p.D334G	CCDC15_ENST00000344762.5_Missense_Mutation_p.D334G			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	334						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GAAGCCCAGGATTATTTTCTA	0.408													8	60	---	---	---	---	0	0
ERI2	112479	broad.mit.edu	37	16	20811285	20811285	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr16:20811285G>A	ENST00000564349.1	-	8	833	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	ERI2_ENST00000300005.3_Missense_Mutation_p.H213Y|ERI2_ENST00000569729.1_Missense_Mutation_p.H213Y|ERI2_ENST00000563117.1_Missense_Mutation_p.H120Y|ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000357967.4_Missense_Mutation_p.H213Y			A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	213	Exonuclease.					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TAACCAGAATGTTCTCGTCCT	0.294													4	43	---	---	---	---	0	0
HOXB13	10481	broad.mit.edu	37	17	46805519	46805519	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr17:46805519A>G	ENST00000290295.7	-	1	1021	c.437T>C	c.(436-438)gTg>gCg	p.V146A		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	146					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CACCACAGACACGTCCAGGTA	0.607													16	70	---	---	---	---	0	0
SOCS6	9306	broad.mit.edu	37	18	67992626	67992626	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr18:67992626G>T	ENST00000397942.3	+	2	1038	c.722G>T	c.(721-723)tGt>tTt	p.C241F	SOCS6_ENST00000582322.1_Missense_Mutation_p.C241F	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	241					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CGGAGCTATTGTCTGGACAGC	0.517													3	33	---	---	---	---	0	0
ZBED4	9889	broad.mit.edu	37	22	50278227	50278227	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr22:50278227G>A	ENST00000216268.5	+	2	1394	c.917G>A	c.(916-918)tGc>tAc	p.C306Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAAGCTGTCTGCATTCACTGC	0.582													4	84	---	---	---	---	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685212	125685212	+	Silent	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chrX:125685212G>A	ENST00000371126.1	-	1	1622	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	460										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCTCCAGAGGCCTGCATAGT	0.537													3	33	---	---	---	---	0	0
SASH3	54440	broad.mit.edu	37	X	128927061	128927061	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chrX:128927061C>A	ENST00000356892.3	+	7	1012	c.898C>A	c.(898-900)Cca>Aca	p.P300T		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	300	SAM.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CATCATGGATCCACAGCACCG	0.587													3	32	---	---	---	---	0	0
COL24A1	255631	broad.mit.edu	37	1	86488275	86488275	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:86488275C>A	ENST00000370571.2	-	17	2515		c.e17-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGTTCACCCTGGAAAGCAC	0.328													3	42	---	---	---	---	0	0
NBPF14	25832	broad.mit.edu	37	1	148004650	148004650	+	Silent	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:148004650T>C	ENST00000369219.1	-	22	2680	c.2664A>G	c.(2662-2664)gaA>gaG	p.E888E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	888	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGATATGCTCTTCCTCAAATG	0.433													89	334	---	---	---	---	0	0
FCER1A	2205	broad.mit.edu	37	1	159275921	159275921	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:159275921C>A	ENST00000368115.1	+	5	574	c.475C>A	c.(475-477)Cac>Aac	p.H159N	FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	159	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTATGAGAACCACAACATCTC	0.488													22	74	---	---	---	---	0	0
SEC16B	89866	broad.mit.edu	37	1	177930014	177930014	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:177930014C>T	ENST00000308284.6	-	7	937	c.848G>A	c.(847-849)aGt>aAt	p.S283N	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.S284N	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	283					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCCGAAACTCACAGGAAC	0.532													5	40	---	---	---	---	0	0
URB2	9816	broad.mit.edu	37	1	229771856	229771856	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:229771856C>T	ENST00000258243.2	+	4	1632	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	499						nucleolus		p.S499F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACGGTACTCTCTGCATGCCTC	0.577													41	117	---	---	---	---	0	0
PSD4	23550	broad.mit.edu	37	2	113949974	113949974	+	Missense_Mutation	SNP	C	C	T	rs146593284		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:113949974C>T	ENST00000441564.3	+	6	1731	c.1562C>T	c.(1561-1563)cCg>cTg	p.P521L	PSD4_ENST00000245796.6_Missense_Mutation_p.P549L			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGAGGACACCGATGAACTCT	0.557													25	211	---	---	---	---	0	0
ATF2	1386	broad.mit.edu	37	2	176001149	176001149	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:176001149T>A	ENST00000264110.2	-	3	321	c.23A>T	c.(22-24)aAt>aTt	p.N8I	ATF2_ENST00000392544.1_Missense_Mutation_p.N8I|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000413123.1_5'UTR|ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000392543.2_5'UTR	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	8					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CCTGGCAGAATTCACATGTAA	0.284													11	144	---	---	---	---	0	0
BMPR2	659	broad.mit.edu	37	2	203383680	203383680	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:203383680G>C	ENST00000374580.4	+	6	1296	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E253Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	253	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GCCTTTGATGGAACATGACAA	0.423													39	109	---	---	---	---	0	0
PDCL2	132954	broad.mit.edu	37	4	56447021	56447021	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:56447021T>C	ENST00000295645.4	-	3	287	c.185A>G	c.(184-186)gAt>gGt	p.D62G		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	62				D -> N (in Ref. 3; AAH34431).						endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			ATCTTCTTCATCAAATTCATC	0.269													3	9	---	---	---	---	0	0
PDLIM5	10611	broad.mit.edu	37	4	95376473	95376473	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:95376473G>A	ENST00000317968.4	+	2	170	c.34G>A	c.(34-36)Gct>Act	p.A12T	PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	12	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGTTGGCCCAGCTCCTTGGGG	0.403													4	35	---	---	---	---	0	0
PCDHA8	0	broad.mit.edu	37	5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:140222810G>A	ENST00000531613.1	+	1	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACCACTCGTGTCCTGGAC	0.647													13	76	---	---	---	---	0	0
LARS	51520	broad.mit.edu	37	5	145493811	145493811	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:145493811A>C	ENST00000394434.2	-	32	3555	c.3389T>G	c.(3388-3390)gTc>gGc	p.V1130G	LARS_ENST00000274562.9_Missense_Mutation_p.V1103G|LARS_ENST00000545646.1_Missense_Mutation_p.V1084G|RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000510191.1_Missense_Mutation_p.V1076G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1130					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTTCCCAGGACAGGAACTCG	0.408													27	71	---	---	---	---	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846330	47846330	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:47846330G>A	ENST00000339488.4	-	3	2283	c.2250C>T	c.(2248-2250)agC>agT	p.S750S		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	750						integral to membrane	hedgehog receptor activity										CTTGCAAGGAGCTTTTTATAC	0.433													9	23	---	---	---	---	0	0
FAM120B	84498	broad.mit.edu	37	6	170627925	170627925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:170627925C>T	ENST00000476287.1	+	2	1555	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	483					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGAATCCAGGCAAGAAGTTTT	0.453													9	200	---	---	---	---	0	0
PDP1	54704	broad.mit.edu	37	8	94935560	94935560	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:94935560C>T	ENST00000396200.3	+	3	1624	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	PDP1_ENST00000297598.4_Missense_Mutation_p.H425Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y|PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	425					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GGAGACTATGCATAGGCAGGA	0.498													7	120	---	---	---	---	0	0
VPS13B	157680	broad.mit.edu	37	8	100866333	100866333	+	Silent	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:100866333C>T	ENST00000358544.2	+	56	10902	c.10791C>T	c.(10789-10791)gtC>gtT	p.V3597V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3597					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTTGCTCGTCAGCATCCACG	0.537													10	80	---	---	---	---	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967187	64967187	+	Silent	SNP	T	T	G			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:64967187T>G	ENST00000399262.2	-	10	4460	c.4242A>C	c.(4240-4242)tcA>tcC	p.S1414S	JMJD1C_ENST00000542921.1_Silent_p.S1232S|JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000399251.1_Silent_p.S1195S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1414					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATTACTTCTGAACCACCCC	0.408													17	148	---	---	---	---	0	0
VAX1	11023	broad.mit.edu	37	10	118897516	118897516	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:118897516C>A	ENST00000277905.2	-	1	296	c.52G>T	c.(52-54)Gct>Tct	p.A18S	VAX1_ENST00000369206.5_Missense_Mutation_p.A18S	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	18						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		ACCCGGGCAGCCTCGGCGTCC	0.552													8	88	---	---	---	---	0	0
MS4A14	84689	broad.mit.edu	37	11	60164141	60164141	+	Silent	SNP	T	T	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr11:60164141T>C	ENST00000300187.6	+	1	367	c.90T>C	c.(88-90)ccT>ccC	p.P30P	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Silent_p.P30P|MS4A14_ENST00000395005.2_Silent_p.P30P|MS4A14_ENST00000531787.1_Intron	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	30						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTACAGACCTCATAGCTCTC	0.458													3	32	---	---	---	---	0	0
DDN	23109	broad.mit.edu	37	12	49391533	49391533	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr12:49391533C>T	ENST00000421952.2	-	2	1147	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	376	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TGTTCTCCTTCTTTCCCTTCC	0.632													15	43	---	---	---	---	0	0
EPB42	2038	broad.mit.edu	37	15	43507486	43507486	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr15:43507486G>T	ENST00000300215.3	-	3	784	c.327C>A	c.(325-327)ttC>ttA	p.F109L	EPB42_ENST00000441366.2_Missense_Mutation_p.F79L|EPB42_ENST00000540029.1_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	79					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGAAATTGGGAATGTGGCTT	0.542													11	99	---	---	---	---	0	0
UBE2I	7329	broad.mit.edu	37	16	1370473	1370473	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr16:1370473C>T	ENST00000355803.4	+	6	919	c.368C>T	c.(367-369)cCa>cTa	p.P123L	UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	123					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CTAAATGAACCAAATATCCAA	0.532													6	93	---	---	---	---	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40821536	40821536	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr17:40821536T>A	ENST00000293349.6	-	12	2538	c.2108A>T	c.(2107-2109)tAt>tTt	p.Y703F	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.Y706F|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	706	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACATGGCCATAGCTGACACT	0.667													4	38	---	---	---	---	0	0
METTL23	124512	broad.mit.edu	37	17	74729679	74729679	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr17:74729679G>A	ENST00000341249.6	+	5	816	c.484G>A	c.(484-486)Gca>Aca	p.A162T	RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000588822.1_Missense_Mutation_p.A95T|METTL23_ENST00000590964.1_Missense_Mutation_p.A95T|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000586752.1_Missense_Mutation_p.A95T|METTL23_ENST00000586200.1_Missense_Mutation_p.A43T|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000588783.1_3'UTR	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	162						integral to membrane	methyltransferase activity			large_intestine(2)|lung(1)	3						GTCTTTTGATGCAGACAAAGA	0.373													54	119	---	---	---	---	0	0
ZNF324	25799	broad.mit.edu	37	19	58982449	58982449	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:58982449C>T	ENST00000536459.2	+	4	1299	c.590C>T	c.(589-591)cCa>cTa	p.P197L	ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L|ZNF324_ENST00000535298.1_5'UTR			O75467	Z324A_HUMAN	zinc finger protein 324	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGGCAGAAACCATGTGCACAG	0.647													3	48	---	---	---	---	0	0
JPH2	57158	broad.mit.edu	37	20	42747223	42747223	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr20:42747223C>A	ENST00000372980.3	-	3	2082	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	404	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCAGGGCGGCCTGTTCCGCT	0.607													9	169	---	---	---	---	0	0
MSN	4478	broad.mit.edu	37	X	64949442	64949442	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:64949442A>C	ENST00000360270.5	+	4	507	c.335A>C	c.(334-336)aAt>aCt	p.N112T		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	112	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GGCATTCTCAATGATGATATT	0.498			T	ALK	ALCL								17	14	---	---	---	---	0	0
TENM1	10178	broad.mit.edu	37	X	123839059	123839059	+	Silent	SNP	G	G	A			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:123839059G>A	ENST00000422452.2	-	5	882	c.819C>T	c.(817-819)ttC>ttT	p.F273F	TENM1_ENST00000371130.3_Silent_p.F273F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGGCTGCACTGAAGATCGCAG	0.493													45	25	---	---	---	---	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987657	15987657	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:15987657A>G	ENST00000345034.1	+	1	1294	c.1294A>G	c.(1294-1296)Act>Gct	p.T432A	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	432					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTAACAGGTACTTCATCTGA	0.438													13	25	---	---	---	---	0	0
DMAP1	55929	broad.mit.edu	37	1	44680509	44680509	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:44680509T>G	ENST00000372289.2	+	3	595	c.332T>G	c.(331-333)tTc>tGc	p.F111C	DMAP1_ENST00000315913.5_Missense_Mutation_p.F111C|DMAP1_ENST00000361745.6_Missense_Mutation_p.F111C|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	111					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GGAGCAATGTTCTTCCACTGG	0.572													6	63	---	---	---	---	0	0
KIDINS220	57498	broad.mit.edu	37	2	8874814	8874814	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:8874814A>C	ENST00000256707.3	-	28	3968	c.3787T>G	c.(3787-3789)Ttt>Gtt	p.F1263V	KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1263					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTCTCCAAAATTCATATTC	0.299													19	26	---	---	---	---	0	0
CAPN13	92291	broad.mit.edu	37	2	30961160	30961160	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:30961160C>T	ENST00000295055.8	-	17	1771		c.e17-1		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCTGGAGGTCCTGAGGAGAGA	0.597													4	42	---	---	---	---	0	0
SLC30A6	55676	broad.mit.edu	37	2	32429723	32429723	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:32429723T>C	ENST00000282587.5	+	11	767	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y215H|SLC30A6_ENST00000357055.3_Missense_Mutation_p.Y47H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	244						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGGCACTATGTATCCCATGAG	0.358													21	52	---	---	---	---	0	0
CHST2	9435	broad.mit.edu	37	3	142840957	142840957	+	Silent	SNP	C	C	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:142840957C>G	ENST00000309575.3	+	2	2683	c.1299C>G	c.(1297-1299)gtC>gtG	p.V433V		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	433					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGACCCCGTCAAGACACTAC	0.597													9	24	---	---	---	---	0	0
HSPA4	3308	broad.mit.edu	37	5	132426987	132426987	+	Missense_Mutation	SNP	G	G	A	rs141758444		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr5:132426987G>A	ENST00000304858.2	+	12	1770	c.1481G>A	c.(1480-1482)aGt>aAt	p.S494N		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	494					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGTGTCCAGTGCATCTTTA	0.423													17	39	---	---	---	---	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626371	80626371	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr6:80626371A>T	ENST00000369816.4	-	6	1199	c.899T>A	c.(898-900)aTa>aAa	p.I300K		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	300					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TCCATTTTCTATCATGAGTTG	0.358													18	39	---	---	---	---	0	0
ABCG4	64137	broad.mit.edu	37	11	119027721	119027721	+	Silent	SNP	T	T	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr11:119027721T>C	ENST00000307417.3	+	9	1429	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P	ABCG4_ENST00000449422.2_Silent_p.P355P|ABCG4_ENST00000531739.1_Silent_p.P355P|AP002956.1_ENST00000599663.1_Intron	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	355					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCCTTGTCCTCCGGTGAGTA	0.607													3	107	---	---	---	---	0	0
NECAP1	25977	broad.mit.edu	37	12	8242592	8242592	+	Silent	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:8242592A>G	ENST00000339754.5	+	2	234	c.156A>G	c.(154-156)aaA>aaG	p.K52K		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	52					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TCACTTCAAAAGGGAAGACTG	0.438													3	124	---	---	---	---	0	0
MBD6	0	broad.mit.edu	37	12	57918089	57918089	+	Translation_Start_Site	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:57918089G>T	ENST00000355673.3	+	3	359	c.3G>T	c.(1-3)atG>atT	p.M1I	MBD6_ENST00000549231.1_3'UTR|MBD6_ENST00000431731.2_Start_Codon_SNP_p.M1I	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	1						chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TACACACAATGAATGGGGGCA	0.572													4	80	---	---	---	---	0	0
RP11-556N21.1	0	broad.mit.edu	37	13	25171525	25171525	+	RNA	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr13:25171525G>T	ENST00000453498.1	+	0	1421				TPTE2P6_ENST00000440905.1_RNA																							CTATTCTTAGGCTTTATCTAC	0.353													7	15	---	---	---	---	0	0
LINC00521	0	broad.mit.edu	37	14	94464557	94464557	+	RNA	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr14:94464557A>G	ENST00000444118.1	+	0	237					NR_024182.1																						GGGCTGTGGCAGGAACTCTAC	0.592													8	61	---	---	---	---	0	0
SALL1	6299	broad.mit.edu	37	16	51175105	51175105	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:51175105A>G	ENST00000440970.1	-	2	1168	c.737T>C	c.(736-738)aTa>aCa	p.I246T	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.I343T	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	343					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGCTGCCAATATGTTCATATT	0.532													5	143	---	---	---	---	0	0
GSDMB	55876	broad.mit.edu	37	17	38073351	38073351	+	Silent	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:38073351C>T	ENST00000394175.2	-	1	442	c.219G>A	c.(217-219)ctG>ctA	p.L73L	GSDMB_ENST00000360317.3_Silent_p.L73L|GSDMB_ENST00000394179.1_Silent_p.L73L|GSDMB_ENST00000418519.1_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L|GSDMB_ENST00000309481.7_Silent_p.L73L	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	73						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GCCCAGAATCCAGTTCATCTA	0.507													7	91	---	---	---	---	0	0
STAT3	6774	broad.mit.edu	37	17	40481653	40481653	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:40481653A>C	ENST00000264657.5	-	13	1464	c.1152T>G	c.(1150-1152)ttT>ttG	p.F384L	STAT3_ENST00000389272.3_Missense_Mutation_p.F286L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L|STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	384			F -> L (in AD-HIES).|F -> S (in AD-HIES).		cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCAGAATGTTAAATTTCCGGG	0.458									Hyperimmunoglobulin E Recurrent Infection Syndrome				3	88	---	---	---	---	0	0
SMAD4	4089	broad.mit.edu	37	18	48591894	48591894	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr18:48591894T>A	ENST00000342988.3	+	9	1595	c.1057T>A	c.(1057-1059)Tac>Aac	p.Y353N	SMAD4_ENST00000398417.2_Missense_Mutation_p.Y353N|SMAD4_ENST00000588745.1_Missense_Mutation_p.Y257N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	353	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTGATGGATACGTGGACCC	0.438													25	42	---	---	---	---	0	0
SZT2	23334	broad.mit.edu	37	1	43912679	43912679	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:43912679G>A	ENST00000562955.1	+	65	8955	c.8955G>A	c.(8953-8955)gtG>gtA	p.V2985V	SZT2_ENST00000372442.1_Silent_p.V2143V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3042						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGATGCACGTGCACTCGTTCA	0.597													3	43	---	---	---	---	0	0
IPO13	9670	broad.mit.edu	37	1	44415596	44415596	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:44415596T>G	ENST00000372343.3	+	2	1254	c.592T>G	c.(592-594)Tgt>Ggt	p.C198G		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	198					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGCGGTGGAATGTGGGGCTGT	0.622													3	16	---	---	---	---	0	0
ATP6V0B	533	broad.mit.edu	37	1	44442867	44442867	+	Silent	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:44442867G>C	ENST00000532642.1	+	7	667	c.570G>C	c.(568-570)ggG>ggC	p.G190G	ATP6V0B_ENST00000236067.4_Silent_p.G143G|ATP6V0B_ENST00000472174.2_Silent_p.G190G|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000498664.1_Silent_p.G143G			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	190					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCTCTTTGGGGTCATCGTCG	0.557													26	82	---	---	---	---	0	0
CCDC88A	55704	broad.mit.edu	37	2	55582770	55582770	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:55582770G>C	ENST00000436346.1	-	8	1586	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	249					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCCACCGACAGATGTTGTCGA	0.463													34	53	---	---	---	---	0	0
SEMA4C	54910	broad.mit.edu	37	2	97530551	97530551	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:97530551A>G	ENST00000305476.5	-	9	985	c.853T>C	c.(853-855)Tgc>Cgc	p.C285R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	285	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGGGCAGAGCATGCCAGCCGC	0.632													4	61	---	---	---	---	0	0
ACKR2	1238	broad.mit.edu	37	3	42906720	42906720	+	Silent	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:42906720C>A	ENST00000422265.1	+	3	901	c.726C>A	c.(724-726)ccC>ccA	p.P242P	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Silent_p.P242P|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Silent_p.P242P|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		GGCTGAGGCCCGCAGGCCAGG	0.537													4	167	---	---	---	---	0	0
CRYBG3	131544	broad.mit.edu	37	3	97618049	97618049	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:97618049G>C	ENST00000182096.4	+	11	2133	c.2069G>C	c.(2068-2070)tGc>tCc	p.C690S		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAATACAAATGCTTTTTTGAC	0.358													25	50	---	---	---	---	0	0
SPATA16	83893	broad.mit.edu	37	3	172835445	172835445	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:172835445T>C	ENST00000351008.3	-	2	260	c.77A>G	c.(76-78)aAc>aGc	p.N26S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	26					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTGCTTGTGTTTATCTTTGG	0.433													7	198	---	---	---	---	0	0
FRYL	285527	broad.mit.edu	37	4	48551612	48551612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:48551612C>T	ENST00000537810.1	-	39	5266	c.4662G>A	c.(4660-4662)tgG>tgA	p.W1554*	FRYL_ENST00000503238.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Nonsense_Mutation_p.W1554*			O94915	FRYL_HUMAN	FRY-like	1554					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTTCAGTCGCCAATTAGAAT	0.438													28	53	---	---	---	---	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973826	69973826	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:69973826C>A	ENST00000305231.7	+	5	1142	c.1096C>A	c.(1096-1098)Cca>Aca	p.P366T	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	366					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTAGGTCATCCAAAGACCAG	0.418													23	82	---	---	---	---	0	0
CENPE	1062	broad.mit.edu	37	4	104041395	104041395	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:104041395C>T	ENST00000265148.3	-	44	7328	c.7239G>A	c.(7237-7239)gtG>gtA	p.V2413V	CENPE_ENST00000380026.3_Silent_p.V2292V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2413	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTCATTAGTCACCTCAAGTT	0.323													5	18	---	---	---	---	0	0
ENPEP	2028	broad.mit.edu	37	4	111397722	111397722	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:111397722C>T	ENST00000265162.5	+	1	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	51					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GACGGCGGGCCGGGCACTGCG	0.647													4	149	---	---	---	---	0	0
DNAH5	1767	broad.mit.edu	37	5	13735947	13735947	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:13735947T>C	ENST00000265104.4	-	67	11654	c.11550A>G	c.(11548-11550)ttA>ttG	p.L3850L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3850					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGGTCAAATAAGCCCAGAA	0.453									Kartagener syndrome				6	142	---	---	---	---	0	0
CCNB1	891	broad.mit.edu	37	5	68470883	68470883	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:68470883T>C	ENST00000256442.5	+	6	1138	c.885T>C	c.(883-885)ttT>ttC	p.F295F		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	295					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTTAAACTTTGGTCTGGGTC	0.438													6	127	---	---	---	---	0	0
KIF20A	10112	broad.mit.edu	37	5	137520549	137520549	+	Silent	SNP	G	G	A	rs114549959	by1000genomes	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:137520549G>A	ENST00000394894.3	+	14	1963	c.1737G>A	c.(1735-1737)caG>caA	p.Q579Q	KIF20A_ENST00000508792.1_Silent_p.Q561Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	579					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGGAACGACAGGAAAAGCTAC	0.488													33	88	---	---	---	---	0	0
PCDHB10	0	broad.mit.edu	37	5	140572701	140572701	+	Silent	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:140572701A>G	ENST00000239446.4	+	1	760	c.576A>G	c.(574-576)ccA>ccG	p.P192P		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		192	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATATATCCAGAGCTAGTGT	0.502													79	174	---	---	---	---	0	0
CDHR2	54825	broad.mit.edu	37	5	176016426	176016426	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:176016426C>A	ENST00000510636.1	+	23	3378	c.3104C>A	c.(3103-3105)aCc>aAc	p.T1035N	CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N|CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1035	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGAAGCCACCACCACCCTG	0.652													6	111	---	---	---	---	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806651	27806651	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:27806651T>G	ENST00000606613.1	+	1	273	c.212T>G	c.(211-213)tTc>tGc	p.F71C	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.F71C			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	71					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AATGACATCTTCGAGCGCATC	0.607													81	168	---	---	---	---	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149773804	149773804	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:149773804G>T	ENST00000389942.5	-	5	982	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.F245L|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	245						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TCCTGCTCAGGAAGTTGCTCA	0.612													4	15	---	---	---	---	0	0
TMEM139	135932	broad.mit.edu	37	7	142983609	142983609	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr7:142983609C>T	ENST00000359333.3	+	3	851	c.338C>T	c.(337-339)cCc>cTc	p.P113L	AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	113						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CAACCACCCCCCTACAGCACT	0.577													50	100	---	---	---	---	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417391	150417391	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr7:150417391A>C	ENST00000307194.5	+	3	439	c.299A>C	c.(298-300)gAg>gCg	p.E100A		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTGTGAGGAGAGAGGTCAC	0.647													8	70	---	---	---	---	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447026	17447026	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:17447026G>A	ENST00000541323.1	+	3	550	c.105G>A	c.(103-105)gaG>gaA	p.E35E	PDGFRL_ENST00000398074.3_Silent_p.E35E|PDGFRL_ENST00000251630.6_Silent_p.E35E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	35						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AACCAGGAGAGAATAGAATCA	0.433													16	161	---	---	---	---	0	0
PRDM14	63978	broad.mit.edu	37	8	70978696	70978696	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:70978696T>C	ENST00000276594.2	-	5	1158	c.957A>G	c.(955-957)ggA>ggG	p.G319G		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	319	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCCCCGTACCTCCTTTTCCAT	0.403													3	181	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113249577	113249577	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:113249577A>G	ENST00000297405.5	-	67	10713	c.10469T>C	c.(10468-10470)gTt>gCt	p.V3490A	CSMD3_ENST00000343508.3_Splice_Site_p.V3450A|CSMD3_ENST00000455883.2_Splice_Site_p.V3321A|CSMD3_ENST00000352409.3_Splice_Site_p.V3420A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3490						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATCAGGAACTGTGAATAG	0.284										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	43	---	---	---	---	0	0
TOPORS	10210	broad.mit.edu	37	9	32543932	32543932	+	Silent	SNP	A	A	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr9:32543932A>C	ENST00000360538.2	-	3	707	c.591T>G	c.(589-591)ggT>ggG	p.G197G	TOPORS_ENST00000379858.1_Silent_p.G132G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	197	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TGTTCACAGGACCACTAGGTG	0.443													7	58	---	---	---	---	0	0
PCDH15	65217	broad.mit.edu	37	10	55587261	55587261	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:55587261G>T	ENST00000373965.2	-	33	4674	c.4280C>A	c.(4279-4281)cCc>cAc	p.P1427H	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1420H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1420					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTAGCCGCGGGTAATGCGGC	0.547										HNSCC(58;0.16)			28	85	---	---	---	---	0	0
WDR96	80217	broad.mit.edu	37	10	105900659	105900659	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:105900659A>G	ENST00000357060.3	-	34	4487	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1458										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCATCAGAATACTCCAGTACT	0.318													12	29	---	---	---	---	0	0
ACCS	84680	broad.mit.edu	37	11	44100335	44100335	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr11:44100335G>T	ENST00000263776.8	+	9	1267		c.e9+1			NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)								1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.?(2)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTGCCAAGAGGTGAGGCACCC	0.577													11	27	---	---	---	---	0	0
KRT78	196374	broad.mit.edu	37	12	53238345	53238345	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr12:53238345T>G	ENST00000359499.4	-	5	600	c.589A>C	c.(589-591)Aag>Cag	p.K197Q	KRT78_ENST00000304620.4_Missense_Mutation_p.K307Q			Q8N1N4	K2C78_HUMAN	keratin 78	307	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCACCACCTTGGTCTGGTAC	0.617													35	111	---	---	---	---	0	0
GIT2	9815	broad.mit.edu	37	12	110383093	110383093	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr12:110383093G>T	ENST00000360185.4	-	15	1717	c.1553C>A	c.(1552-1554)tCc>tAc	p.S518Y	GIT2_ENST00000457474.2_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.S568Y|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000356259.4_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y	NM_014776.3	NP_055591.2	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	568					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CCTCGACCAGGAAAGTGTGGA	0.547													14	25	---	---	---	---	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456028	30456028	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:30456028T>C	ENST00000478753.2	-	1	1474	c.1021A>G	c.(1021-1023)Att>Gtt	p.I341V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	341					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGATTATGAATAACAAAGGAC	0.473													4	64	---	---	---	---	0	0
ITGAL	0	broad.mit.edu	37	16	30522404	30522404	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:30522404C>G	ENST00000356798.6	+	24	2913	c.2733C>G	c.(2731-2733)aaC>aaG	p.N911K	ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K|ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	911					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGGAGGACAACTCAGCCACTA	0.567													18	163	---	---	---	---	0	0
ZNF773	374928	broad.mit.edu	37	19	58017987	58017987	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:58017987A>G	ENST00000282292.4	+	4	664	c.524A>G	c.(523-525)cAt>cGt	p.H175R	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GAGAAGTCACATAGGAGCTCC	0.468													7	16	---	---	---	---	0	0
WISP2	8839	broad.mit.edu	37	20	43355879	43355879	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr20:43355879G>A	ENST00000372865.4	+	3	945	c.437G>A	c.(436-438)aGc>aAc	p.S146N	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000190983.4_Silent_p.Q228Q|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372868.2_Silent_p.Q228Q			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	142	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				TGGAGACCCAGCGCCGCCTGT	0.672													16	27	---	---	---	---	0	0
ZNF217	7764	broad.mit.edu	37	20	52198352	52198352	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr20:52198352C>T	ENST00000371471.2	-	2	1439	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	ZNF217_ENST00000302342.3_Silent_p.K338K			O75362	ZN217_HUMAN	zinc finger protein 217	338					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CACAACTGCCCTTATTTGTTT	0.542													14	112	---	---	---	---	0	0
BCR	613	broad.mit.edu	37	22	23523995	23523995	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr22:23523995A>G	ENST00000305877.8	+	1	1599	c.848A>G	c.(847-849)tAc>tGc	p.Y283C	BCR_ENST00000359540.3_Missense_Mutation_p.Y283C|BCR_ENST00000398512.5_Missense_Mutation_p.Y283C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	283	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CAGAGCATCTACGTCGGGGGC	0.657			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								8	36	---	---	---	---	0	0
MECR	51102	broad.mit.edu	37	1	29527049	29527049	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:29527049G>A	ENST00000373791.3	-	7	953	c.581C>T	c.(580-582)aCa>aTa	p.T194I	MECR_ENST00000263702.6_Missense_Mutation_p.T270I	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	270					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CAGCAGCTCTGTGGAGCTTTT	0.562													4	26	---	---	---	---	0	0
PHC2	1912	broad.mit.edu	37	1	33797885	33797885	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:33797885A>C	ENST00000257118.5	-	10	1932	c.1879T>G	c.(1879-1881)Tat>Gat	p.Y627D	PHC2_ENST00000373422.3_Missense_Mutation_p.Y233D|PHC2_ENST00000431992.1_Missense_Mutation_p.Y598D|PHC2_ENST00000373416.1_Missense_Mutation_p.Y92D|PHC2_ENST00000419414.2_Missense_Mutation_p.Y628D|PHC2_ENST00000373418.3_Missense_Mutation_p.Y92D|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	627					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTTGCAGATAGGGCTCCTCC	0.567													4	95	---	---	---	---	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530262	80530262	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:80530262T>C	ENST00000295057.3	-	2	1339	c.683A>G	c.(682-684)cAc>cGc	p.H228R	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H228R|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	228						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCGGGAAGTGGGCGAAGTT	0.577										HNSCC(69;0.2)			39	76	---	---	---	---	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883536	228883536	+	Silent	SNP	A	A	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:228883536A>G	ENST00000392056.3	-	7	2080	c.2034T>C	c.(2032-2034)caT>caC	p.H678H	SPHKAP_ENST00000344657.5_Silent_p.H678H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	678						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATCAATGGAATGCCTCAGGA	0.418													103	173	---	---	---	---	0	0
EPHA3	2042	broad.mit.edu	37	3	89468541	89468541	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr3:89468541G>T	ENST00000336596.2	+	11	2299		c.e11+1		EPHA3_ENST00000494014.1_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3							extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTTACCAAAAGTAAGTAAAGT	0.398										TSP Lung(6;0.00050)			22	48	---	---	---	---	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135722332	135722332	+	Silent	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr3:135722332C>T	ENST00000264977.3	+	2	2609	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	664					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGAGGTGATCAAGGTAAGAC	0.353													18	66	---	---	---	---	0	0
FGFBP2	83888	broad.mit.edu	37	4	15964674	15964674	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr4:15964674C>T	ENST00000259989.6	-	1	185	c.79G>A	c.(79-81)Gga>Aga	p.G27R	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	27						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCAGTGCTTCCTTGCTTTTGC	0.577													12	36	---	---	---	---	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181022	57181022	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr4:57181022G>A	ENST00000504228.1	+	6	1459	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	KIAA1211_ENST00000541073.1_Missense_Mutation_p.E445K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E452K			Q6ZU35	K1211_HUMAN	KIAA1211	452	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGTATTTGCGAGGAGCAGAA	0.592													3	14	---	---	---	---	0	0
PCDHB8	0	broad.mit.edu	37	5	140559000	140559000	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:140559000G>A	ENST00000239444.2	+	1	1630	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		462	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R462P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTCCGCGAGAACAAC	0.627													21	325	---	---	---	---	0	0
GRIA1	0	broad.mit.edu	37	5	153174234	153174234	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:153174234A>T	ENST00000285900.5	+	14	2667	c.2324A>T	c.(2323-2325)aAa>aTa	p.K775I	GRIA1_ENST00000521843.2_Missense_Mutation_p.K706I|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Missense_Mutation_p.K695I|GRIA1_ENST00000518783.1_Missense_Mutation_p.K785I|GRIA1_ENST00000448073.4_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	775					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTTTGGACAAATTGAAAAAC	0.443													5	51	---	---	---	---	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281226	100281226	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr7:100281226T>C	ENST00000275732.5	-	17	3208	c.1999A>G	c.(1999-2001)Att>Gtt	p.I667V		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	667										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAAGAGTTAATTGGTATGTCC	0.597													10	140	---	---	---	---	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448995	104448995	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr9:104448995A>C	ENST00000361820.3	-	2	1787	c.1187T>G	c.(1186-1188)gTc>gGc	p.V396G		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	396					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGCTCTTGCGACCAGCTCCAT	0.498													4	80	---	---	---	---	0	0
NUP188	23511	broad.mit.edu	37	9	131765100	131765100	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr9:131765100C>T	ENST00000372577.2	+	37	4163	c.4142C>T	c.(4141-4143)cCt>cTt	p.P1381L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1381					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTTAGACACCTAGTGCCTCT	0.562													12	45	---	---	---	---	0	0
ITGA8	8516	broad.mit.edu	37	10	15590512	15590512	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:15590512C>G	ENST00000378076.3	-	27	3175	c.2822G>C	c.(2821-2823)gGa>gCa	p.G941A		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	941					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTTTCTCCTCCTTCGAGTCG	0.473													7	45	---	---	---	---	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17362963	17362963	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:17362963G>T	ENST00000377602.4	-	8	1185	c.1111C>A	c.(1111-1113)Cag>Aag	p.Q371K		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	371					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTGGGCATCTGATGGAAACCA	0.403													10	255	---	---	---	---	0	0
KAT6B	23522	broad.mit.edu	37	10	76729799	76729799	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:76729799T>C	ENST00000287239.4	+	6	1357	c.868T>C	c.(868-870)Tcc>Ccc	p.S290P	KAT6B_ENST00000372714.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372725.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372724.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372711.1_Missense_Mutation_p.S290P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	290					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TTTTTGTGATTCCTGTGATAG	0.318													6	43	---	---	---	---	0	0
MUC5B	727897	broad.mit.edu	37	11	1271277	1271277	+	Silent	SNP	C	C	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:1271277C>G	ENST00000447027.1	+	31	13234	c.13176C>G	c.(13174-13176)acC>acG	p.T4392T	MUC5B_ENST00000529681.1_Silent_p.T4389T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4389	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGGGACGACCTGGATCCTCA	0.662													4	102	---	---	---	---	0	0
OR5D18	219438	broad.mit.edu	37	11	55587532	55587532	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:55587532G>A	ENST00000333976.4	+	1	447	c.427G>A	c.(427-429)Gtg>Atg	p.V143M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GAAACTCTGCGTGCTGCTGGT	0.468													32	124	---	---	---	---	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43819391	43819391	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr12:43819391G>T	ENST00000389420.3	-	28	4209	c.4210C>A	c.(4210-4212)Cca>Aca	p.P1404T	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P522T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1404T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1404	TSP type-1 10.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACGCTAGGTGGCTTGTTTACA	0.403													6	21	---	---	---	---	0	0
SHISA2	387914	broad.mit.edu	37	13	26620948	26620948	+	Silent	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr13:26620948C>T	ENST00000319420.3	-	2	646	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	197					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						TTGTTGGGGGCGCCCGGGCCC	0.612													7	105	---	---	---	---	0	0
NUFIP1	26747	broad.mit.edu	37	13	45533530	45533530	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr13:45533530A>C	ENST00000379161.4	-	7	1053	c.1007T>G	c.(1006-1008)aTa>aGa	p.I336R		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	336					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ATCACTGTTTATCAAAACACC	0.403													35	66	---	---	---	---	0	0
SOCS4	122809	broad.mit.edu	37	14	55509920	55509920	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr14:55509920G>T	ENST00000395472.2	+	2	493	c.161G>T	c.(160-162)gGt>gTt	p.G54V	SOCS4_ENST00000555846.1_Missense_Mutation_p.G54V|SOCS4_ENST00000339298.2_Missense_Mutation_p.G54V	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	54					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						ACAGTGAATGGTATAGAGAAA	0.413													23	68	---	---	---	---	0	0
TIMM13	26517	broad.mit.edu	37	19	2427323	2427323	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:2427323C>A	ENST00000215570.3	-	2	481		c.e2-1		TIMM13_ENST00000591871.1_Splice_Site	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)						protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding			endometrium(1)|prostate(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCATCCTCTGTGGAGACA	0.687													12	149	---	---	---	---	0	0
COL5A3	50509	broad.mit.edu	37	19	10096993	10096993	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:10096993T>A	ENST00000264828.3	-	30	2435	c.2350A>T	c.(2350-2352)Aag>Tag	p.K784*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	784	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCATTTACCTTCTCCCCAGCT	0.632													9	24	---	---	---	---	0	0
ICAM4	3386	broad.mit.edu	37	19	10398384	10398384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:10398384C>T	ENST00000340992.4	+	2	529	c.490C>T	c.(490-492)Caa>Taa	p.Q164*	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Silent_p.A189A|ICAM4_ENST00000393717.2_Silent_p.A189A	NM_001039132.2	NP_001034221.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGGATCTGGCCAACGTGACCT	0.637													4	52	---	---	---	---	0	0
PCDH19	57526	broad.mit.edu	37	X	99662943	99662943	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chrX:99662943C>T	ENST00000373034.4	-	1	2328	c.653G>A	c.(652-654)cGc>cAc	p.R218H	PCDH19_ENST00000420881.2_Missense_Mutation_p.R218H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R218H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	218	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGTGCCCAGGCGCGGCGGGTC	0.607													24	39	---	---	---	---	0	0
LDLRAD1	388633	broad.mit.edu	37	1	54474773	54474773	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:54474773C>A	ENST00000371360.1	-	6	517	c.500G>T	c.(499-501)tGg>tTg	p.W167L	LDLRAD1_ENST00000420619.1_Missense_Mutation_p.W128L|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.W78L|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.W124L	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	167	LDL-receptor class A 3; atypical.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						ACAGCGCCACCACCCAGGGCC	0.592													3	158	---	---	---	---	0	0
LEPR	3953	broad.mit.edu	37	1	66081866	66081866	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:66081866T>C	ENST00000349533.6	+	15	2356	c.2171T>C	c.(2170-2172)gTt>gCt	p.V724A	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.V724A|LEPR_ENST00000371058.1_Missense_Mutation_p.V724A|LEPR_ENST00000371059.3_Missense_Mutation_p.V724A|LEPR_ENST00000344610.8_Missense_Mutation_p.V724A	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	724	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGTGCTTCTGTTGCAAATTTT	0.388													4	56	---	---	---	---	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178503	90178503	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:90178503A>C	ENST00000370454.4	+	3	629	c.374A>C	c.(373-375)aAg>aCg	p.K125T	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	125						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGTATGCCAAGTATTTCCCT	0.433													3	159	---	---	---	---	0	0
ALX3	257	broad.mit.edu	37	1	110607211	110607211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:110607211G>A	ENST00000369792.4	-	2	679	c.592C>T	c.(592-594)Cag>Tag	p.Q198*		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCCTCACCTGTACCCGGGCC	0.612													4	46	---	---	---	---	0	0
LTBP1	4052	broad.mit.edu	37	2	33488411	33488411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:33488411G>A	ENST00000404816.2	+	15	2922	c.2569G>A	c.(2569-2571)Gct>Act	p.A857T	LTBP1_ENST00000418533.2_Missense_Mutation_p.A531T|LTBP1_ENST00000390003.4_Missense_Mutation_p.A532T|LTBP1_ENST00000404525.1_Missense_Mutation_p.A478T|LTBP1_ENST00000402934.1_Missense_Mutation_p.A478T|LTBP1_ENST00000354476.3_Missense_Mutation_p.A858T|LTBP1_ENST00000407925.1_Missense_Mutation_p.A531T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	857					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCTCCTGAAGCTTCTACGTC	0.428													13	89	---	---	---	---	0	0
ATL2	64225	broad.mit.edu	37	2	38546101	38546101	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:38546101C>T	ENST00000378954.4	-	3	425	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	ATL2_ENST00000452935.2_Missense_Mutation_p.G124S|ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.G142S|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000332337.4_Missense_Mutation_p.G124S|ATL2_ENST00000402054.1_5'UTR	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	142					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTTCACAGCCACCTCGCCAT	0.348													24	240	---	---	---	---	0	0
XIRP2	129446	broad.mit.edu	37	2	168105325	168105325	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:168105325A>T	ENST00000409195.1	+	9	7512	c.7423A>T	c.(7423-7425)Acg>Tcg	p.T2475S	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2253S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2475S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2300					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGTGAACACACGGAGACAAA	0.403													5	47	---	---	---	---	0	0
FBXL2	25827	broad.mit.edu	37	3	33414823	33414823	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:33414823C>A	ENST00000484457.1	+	7	522	c.431C>A	c.(430-432)aCa>aAa	p.T144K	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Missense_Mutation_p.T60K|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	144					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGTCTATTACAAACAGCTCC	0.428													17	243	---	---	---	---	0	0
SMARCA5	8467	broad.mit.edu	37	4	144449073	144449073	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:144449073C>T	ENST00000283131.3	+	7	1316	c.854C>T	c.(853-855)aCa>aTa	p.T285I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	285	Helicase ATP-binding.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTATGTGTAACATCTTATGAA	0.323													18	44	---	---	---	---	0	0
DCHS2	54798	broad.mit.edu	37	4	155253865	155253865	+	Silent	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:155253865G>A	ENST00000357232.4	-	9	1997	c.1998C>T	c.(1996-1998)ccC>ccT	p.P666P	DCHS2_ENST00000339452.1_Silent_p.P1165P	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCCGTCCTCGGGGATCCAAG	0.443													7	148	---	---	---	---	0	0
DDX60	55601	broad.mit.edu	37	4	169227602	169227602	+	Silent	SNP	T	T	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:169227602T>C	ENST00000393743.3	-	5	825	c.534A>G	c.(532-534)caA>caG	p.Q178Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	178							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CATCAGATTCTTGCCCTGAGG	0.398													6	47	---	---	---	---	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33630978	33630978	+	Silent	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:33630978C>T	ENST00000504830.1	-	13	2264	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	643	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTCAGAAAACTGGCCATCTA	0.463										HNSCC(64;0.19)			8	48	---	---	---	---	0	0
CXXC5	51523	broad.mit.edu	37	5	139060933	139060933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:139060933C>A	ENST00000302517.3	+	2	1539	c.825C>A	c.(823-825)tgC>tgA	p.C275*	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Nonsense_Mutation_p.C275*	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	275					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCAACTGCGAGCAGTGCA	0.567													3	109	---	---	---	---	0	0
OR2H2	7932	broad.mit.edu	37	6	29555896	29555896	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr6:29555896T>G	ENST00000383640.2	+	1	214	c.175T>G	c.(175-177)Ttt>Gtt	p.F59V	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	59					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCCAATGTACTTTTTCCTCTC	0.527													15	108	---	---	---	---	0	0
PHF3	23469	broad.mit.edu	37	6	64404530	64404530	+	Silent	SNP	G	G	A	rs141874226		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr6:64404530G>A	ENST00000262043.3	+	6	2896	c.2556G>A	c.(2554-2556)caG>caA	p.Q852Q	PHF3_ENST00000393387.1_Silent_p.Q852Q			Q92576	PHF3_HUMAN	PHD finger protein 3	852					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAAATGGCAGCTAGCTCCTC	0.363													3	171	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100681323	100681323	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr7:100681323G>A	ENST00000306151.4	+	3	6690	c.6626G>A	c.(6625-6627)aGc>aAc	p.S2209N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2209	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGTACCAGCATGCCAACC	0.498													63	464	---	---	---	---	0	0
ADAM9	8754	broad.mit.edu	37	8	38880740	38880740	+	Silent	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38880740G>A	ENST00000487273.2	+	9	888	c.810G>A	c.(808-810)ctG>ctA	p.L270L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	270	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATGGAAACCTGATCAACATAG	0.413													5	94	---	---	---	---	0	0
COL27A1	85301	broad.mit.edu	37	9	116968050	116968050	+	Silent	SNP	A	A	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr9:116968050A>G	ENST00000356083.3	+	9	2572	c.2181A>G	c.(2179-2181)ggA>ggG	p.G727G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	727	Collagen-like 2.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGCAGCCAGGACCTGAGGGCA	0.587													22	55	---	---	---	---	0	0
OR5D18	219438	broad.mit.edu	37	11	55587340	55587340	+	Missense_Mutation	SNP	G	G	A	rs142474714	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:55587340G>A	ENST00000333976.4	+	1	255	c.235G>A	c.(235-237)Gct>Act	p.A79T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A79S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTCCATCATTGCTCCCAAGAT	0.408													17	218	---	---	---	---	0	0
ZP1	22917	broad.mit.edu	37	11	60640728	60640728	+	Silent	SNP	C	C	T	rs151198562		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:60640728C>T	ENST00000278853.5	+	7	1206	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	402	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P402P(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGACCCAGCCCGGCCCCCTGC	0.602													33	184	---	---	---	---	0	0
DHCR7	1717	broad.mit.edu	37	11	71153385	71153385	+	Silent	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:71153385C>A	ENST00000355527.3	-	5	612	c.336G>T	c.(334-336)acG>acT	p.T112T	DHCR7_ENST00000407721.2_Silent_p.T112T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	112					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGGGAGAGACGTGTACAGAA	0.587									Smith-Lemli-Opitz syndrome				5	25	---	---	---	---	0	0
SCN2B	6327	broad.mit.edu	37	11	118039353	118039353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:118039353G>A	ENST00000278947.5	-	2	425	c.184C>T	c.(184-186)Cag>Tag	p.Q62*		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	62	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		AGGGAGAACTGTTTGTGGTTC	0.592													7	348	---	---	---	---	0	0
FREM2	341640	broad.mit.edu	37	13	39357215	39357215	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr13:39357215G>T	ENST00000280481.7	+	5	5866	c.5650G>T	c.(5650-5652)Gtg>Ttg	p.V1884L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1884	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGAGCCAACTGTGTTTATTCC	0.408													4	120	---	---	---	---	0	0
OLFM4	10562	broad.mit.edu	37	13	53624777	53624777	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr13:53624777C>G	ENST00000219022.2	+	5	1482	c.1404C>G	c.(1402-1404)gaC>gaG	p.D468E		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	468	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GCAAACTAGACATTGTAATGC	0.383													21	33	---	---	---	---	0	0
RLTPR	146206	broad.mit.edu	37	16	67685160	67685160	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr16:67685160G>A	ENST00000334583.6	+	23	2583	c.2255G>A	c.(2254-2256)gGt>gAt	p.G752D	RLTPR_ENST00000545661.1_Missense_Mutation_p.G716D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	752										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGGCCCCAGGGTGAAGCCGCT	0.602													5	60	---	---	---	---	0	0
ASIC2	40	broad.mit.edu	37	17	31355331	31355331	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:31355331G>A	ENST00000225823.2	-	4	1939	c.1067C>T	c.(1066-1068)aCc>aTc	p.T356I	ASIC2_ENST00000359872.6_Missense_Mutation_p.T305I|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	305					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCTACAGGCGGTGATGCTGTA	0.582													3	64	---	---	---	---	0	0
ZNF652	22834	broad.mit.edu	37	17	47394309	47394309	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:47394309A>G	ENST00000362063.2	-	2	1097	c.779T>C	c.(778-780)cTg>cCg	p.L260P	ZNF652_ENST00000430262.2_Missense_Mutation_p.L260P	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTGCTTCTCCAGGTACCAGCG	0.478													10	59	---	---	---	---	0	0
GPR108	56927	broad.mit.edu	37	19	6731293	6731293	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:6731293C>A	ENST00000264080.7	-	16	1377	c.1351G>T	c.(1351-1353)Gtc>Ttc	p.V451F	GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Splice_Site_p.V209F	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	451						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TAGCAGATGACCTGCAGGGGC	0.677													9	44	---	---	---	---	0	0
HAO1	54363	broad.mit.edu	37	20	7875791	7875791	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:7875791C>T	ENST00000378789.3	-	5	853	c.802G>A	c.(802-804)Gtg>Atg	p.V268M		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	268	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGCTGGCACCCCATCGAGT	0.488													35	107	---	---	---	---	0	0
FAM47A	158724	broad.mit.edu	37	X	34150170	34150170	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chrX:34150170A>T	ENST00000346193.3	-	1	277	c.226T>A	c.(226-228)Ttt>Att	p.F76I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	76										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGAGTAAAAACTCGTCACGG	0.532													7	28	---	---	---	---	0	0
GPRASP2	114928	broad.mit.edu	37	X	101972035	101972035	+	Silent	SNP	T	T	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chrX:101972035T>G	ENST00000543253.1	+	5	3157	c.2238T>G	c.(2236-2238)tcT>tcG	p.S746S	GPRASP2_ENST00000535209.1_Silent_p.S746S|GPRASP2_ENST00000332262.5_Silent_p.S746S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAATTTGTCTGAAAATCCTG	0.368													5	53	---	---	---	---	0	0
AIM2	9447	broad.mit.edu	37	1	159035790	159035790	+	Silent	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:159035790A>T	ENST00000368130.4	-	4	1014	c.726T>A	c.(724-726)atT>atA	p.I242I		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	242	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTTTTCTGATAATGTTCAGCG	0.428													10	58	---	---	---	---	0	0
CEP350	9857	broad.mit.edu	37	1	179966074	179966074	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:179966074C>A	ENST00000367607.3	+	6	1200	c.782C>A	c.(781-783)tCt>tAt	p.S261Y		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	261						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTCCATCCTCTACTAGTACT	0.378													4	45	---	---	---	---	0	0
C1orf65	164127	broad.mit.edu	37	1	223566906	223566906	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:223566906G>A	ENST00000366875.3	+	1	192	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	30										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCACGCAGCGGCTGGGCGGG	0.736													4	10	---	---	---	---	0	0
SNRNP200	23020	broad.mit.edu	37	2	96955019	96955019	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr2:96955019C>A	ENST00000323853.5	-	22	3116	c.3039G>T	c.(3037-3039)gaG>gaT	p.E1013D	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1013	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCCTGAAAAGCTCAATCTCAC	0.517													4	40	---	---	---	---	0	0
ROBO2	6092	broad.mit.edu	37	3	77693942	77693942	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:77693942C>G	ENST00000461745.1	+	25	4922	c.4022C>G	c.(4021-4023)aCt>aGt	p.T1341S	ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1341					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGGGATCCACTGGACCTAGG	0.517													5	62	---	---	---	---	0	0
GP5	2814	broad.mit.edu	37	3	194118889	194118889	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:194118889C>T	ENST00000401815.1	-	1	194	c.123G>A	c.(121-123)gcG>gcA	p.A41A	GP5_ENST00000323007.3_Silent_p.A41A			P40197	GPV_HUMAN	glycoprotein V (platelet)	41	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGGAGATGCGCGCCACGTCGC	0.706													13	28	---	---	---	---	0	0
RCHY1	25898	broad.mit.edu	37	4	76417113	76417113	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:76417113G>T	ENST00000324439.5	-	5	834	c.436C>A	c.(436-438)Cca>Aca	p.P146T	RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T|RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T|RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	146					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACATATTGGACAATTCTGT	0.284													12	35	---	---	---	---	0	0
NPY1R	0	broad.mit.edu	37	4	164247226	164247226	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:164247226C>A	ENST00000296533.2	-	2	1012	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	161					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACCCAAATCACAGCAATACCT	0.433													13	25	---	---	---	---	0	0
CDX1	1044	broad.mit.edu	37	5	149562382	149562382	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr5:149562382G>T	ENST00000231656.8	+	2	579	c.497G>T	c.(496-498)cGc>cTc	p.R166L		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACCACCAACGCCTGGAGCTG	0.567													58	127	---	---	---	---	0	0
HIST1H2AI	8329	broad.mit.edu	37	6	27776019	27776019	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:27776019C>T	ENST00000358739.3	+	1	121	c.32C>T	c.(31-33)gCt>gTt	p.A11V		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						GGAGGCAAAGCTCGCGCCAAG	0.547													19	82	---	---	---	---	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219539	44219539	+	Silent	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:44219539C>A	ENST00000371554.1	+	9	1594	c.1380C>A	c.(1378-1380)tcC>tcA	p.S460S	HSP90AB1_ENST00000371646.5_Silent_p.S460S|HSP90AB1_ENST00000353801.3_Silent_p.S460S			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	460					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCATACCTCCCAGTCTGGAG	0.498													4	73	---	---	---	---	0	0
CDC5L	988	broad.mit.edu	37	6	44371735	44371735	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:44371735A>T	ENST00000371477.3	+	6	1028	c.729A>T	c.(727-729)agA>agT	p.R243S		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	243					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAATTAAGACAACAGGATC	0.398													16	32	---	---	---	---	0	0
CARD11	84433	broad.mit.edu	37	7	2984130	2984130	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr7:2984130C>T	ENST00000396946.4	-	5	803	c.400G>A	c.(400-402)Gag>Aag	p.E134K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	134					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGATGACCTCGTTCATCAGG	0.602			Mis		DLBCL								12	39	---	---	---	---	0	0
DNAJB5	25822	broad.mit.edu	37	9	34997172	34997172	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr9:34997172C>T	ENST00000541010.1	+	3	3975	c.963C>T	c.(961-963)ctC>ctT	p.L321L	DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000312316.5_Silent_p.L321L|DNAJB5_ENST00000545841.1_Silent_p.L321L|DNAJB5_ENST00000335998.3_Silent_p.L355L|DNAJB5_ENST00000454002.2_Silent_p.L393L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	321					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGGAGACCTCATTGTTGAGT	0.547													33	54	---	---	---	---	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133949433	133949433	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr10:133949433G>T	ENST00000298622.4	+	5	1107		c.e5-1			NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TTGTCTTTCAGTTGAAGCGCG	0.507													3	12	---	---	---	---	0	0
IL10RA	3587	broad.mit.edu	37	11	117864087	117864087	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr11:117864087T>C	ENST00000227752.3	+	4	619	c.499T>C	c.(499-501)Tat>Cat	p.Y167H	IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	167						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CTTCCGAGAGTATGAGATTGC	0.567													3	55	---	---	---	---	0	0
STK38L	23012	broad.mit.edu	37	12	27467471	27467471	+	Silent	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr12:27467471C>A	ENST00000389032.3	+	7	721	c.552C>A	c.(550-552)acC>acA	p.T184T	STK38L_ENST00000539577.1_Silent_p.T91T	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	184	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					AGAAAGACACCTTGACAGAAG	0.378													3	33	---	---	---	---	0	0
PLBD2	196463	broad.mit.edu	37	12	113821961	113821961	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr12:113821961G>T	ENST00000280800.3	+	7	1040	c.1009G>T	c.(1009-1011)Gtg>Ttg	p.V337L	PLBD2_ENST00000545182.2_Missense_Mutation_p.V337L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	337					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GTGGAAGTATGTGCGGCCCAG	0.617													3	54	---	---	---	---	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748253	19748253	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr13:19748253A>T	ENST00000400113.3	-	5	1207	c.1103T>A	c.(1102-1104)cTg>cAg	p.L368Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	368					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACCTTGGCCAGGTCTCCCCC	0.582													16	53	---	---	---	---	0	0
COL4A2	1284	broad.mit.edu	37	13	111145626	111145626	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr13:111145626C>A	ENST00000360467.5	+	39	3937	c.3631C>A	c.(3631-3633)Cca>Aca	p.P1211T		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1211	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCCAGGATCCCCAGGTACTCT	0.612													4	58	---	---	---	---	0	0
TTC6	319089	broad.mit.edu	37	14	38277950	38277950	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr14:38277950G>A	ENST00000553443.1	+	24	4468	c.4468G>A	c.(4468-4470)Gca>Aca	p.A1490T	TTC6_ENST00000267368.7_Missense_Mutation_p.A124T|TTC6_ENST00000382320.3_Missense_Mutation_p.A204T|TTC6_ENST00000476979.1_Missense_Mutation_p.A124T					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTATAAGCTAGCAATTACAGA	0.274													29	58	---	---	---	---	0	0
KRT27	342574	broad.mit.edu	37	17	38938670	38938670	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr17:38938670C>A	ENST00000301656.3	-	1	116	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	26	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CCTGCTCCCCCACTAGAGAGC	0.587													3	17	---	---	---	---	0	0
OR4D2	124538	broad.mit.edu	37	17	56247418	56247418	+	Silent	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr17:56247418C>A	ENST00000545221.1	+	1	402	c.402C>A	c.(400-402)acC>acA	p.T134T		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCTATGTCACCGTCATGAACA	0.577													4	90	---	---	---	---	0	0
UQCR10	29796	broad.mit.edu	37	22	30163414	30163414	+	Silent	SNP	A	A	G	rs17849991		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr22:30163414A>G	ENST00000330029.6	+	1	57	c.27A>G	c.(25-27)aaA>aaG	p.K9K	UQCR10_ENST00000401406.3_Silent_p.K9K	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	9					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						TGACTTCGAAATTGTACTCCC	0.627													5	25	---	---	---	---	0	0
WWC3	55841	broad.mit.edu	37	X	10058810	10058810	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chrX:10058810G>A	ENST00000380861.4	+	6	768		c.e6-1		WWC3_ENST00000454666.1_Splice_Site	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3											NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GTTTTAACTAGGATTGATCGG	0.423													9	13	---	---	---	---	0	0
PLK3	1263	broad.mit.edu	37	1	45270100	45270100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45270100T>C	ENST00000372201.4	+	12	1671	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	478	POLO box 1.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CGGCTTTGGGTATCAACTGTC	0.572													27	97	---	---	---	---	0	0
HECTD3	79654	broad.mit.edu	37	1	45472380	45472380	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45472380A>C	ENST00000372172.4	-	13	1780	c.1709T>G	c.(1708-1710)gTa>gGa	p.V570G	HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	570	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGTGCGTACAAAGAAGGG	0.572													12	84	---	---	---	---	0	0
CCDC17	149483	broad.mit.edu	37	1	46086625	46086625	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:46086625G>A	ENST00000421127.2	-	11	1665	c.1522C>T	c.(1522-1524)Ctt>Ttt	p.L508F	CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000528266.1_Missense_Mutation_p.L517F	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	517										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TCCAGAGGAAGGGCCCGAAGT	0.577													5	22	---	---	---	---	0	0
LPPR4	0	broad.mit.edu	37	1	99767329	99767329	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:99767329T>C	ENST00000370185.3	+	6	1339	c.842T>C	c.(841-843)cTc>cCc	p.L281P	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		281							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGAAACCTCTCTTGGTCTTC	0.363													7	72	---	---	---	---	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144916719	144916719	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:144916719G>A	ENST00000529945.1	-	9	2564	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	PDE4DIP_ENST00000313382.9_Silent_p.L612L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000369354.3_Silent_p.L546L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000313431.9_Silent_p.L709L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	546					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCACTTCCAGGCCTTTGGCC	0.423			T	PDGFRB	MPD								5	350	---	---	---	---	0	0
LRP2	4036	broad.mit.edu	37	2	170053462	170053462	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:170053462T>A	ENST00000263816.3	-	46	8942	c.8657A>T	c.(8656-8658)gAa>gTa	p.E2886V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2886	LDL-receptor class A 20.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAATCTGTTTCTTGATCACA	0.458													8	81	---	---	---	---	0	0
C3orf14	57415	broad.mit.edu	37	3	62317034	62317034	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:62317034G>A	ENST00000494481.1	+	5	526	c.212G>A	c.(211-213)aGg>aAg	p.R71K	C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000495542.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	71										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTACAGACCAGGATTCACCCA	0.408													19	87	---	---	---	---	0	0
LPHN3	23284	broad.mit.edu	37	4	62679557	62679557	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr4:62679557T>A	ENST00000512091.2	+	8	1973	c.1226T>A	c.(1225-1227)aTt>aAt	p.I409N	LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514591.1_Missense_Mutation_p.I409N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						gtttcatacatttctccgcca	0.363													10	39	---	---	---	---	0	0
FAT2	2196	broad.mit.edu	37	5	150911164	150911164	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr5:150911164G>A	ENST00000261800.5	-	13	9807	c.9795C>T	c.(9793-9795)cgC>cgT	p.R3265R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3265	Cadherin 29.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCATCCAGGCGGAACCTGC	0.652													5	40	---	---	---	---	0	0
GLDC	2731	broad.mit.edu	37	9	6540103	6540103	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr9:6540103T>G	ENST00000321612.6	-	22	2763	c.2613A>C	c.(2611-2613)aaA>aaC	p.K871N		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	871					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTGCAGACTTTTTGAAGGGTC	0.453													26	93	---	---	---	---	0	0
ZNF485	220992	broad.mit.edu	37	10	44112021	44112021	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:44112021A>G	ENST00000361807.3	+	5	724	c.530A>G	c.(529-531)cAt>cGt	p.H177R	ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R|ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAATCACCATAAGGTTCAT	0.393													18	84	---	---	---	---	0	0
HKDC1	80201	broad.mit.edu	37	10	71008401	71008401	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:71008401A>G	ENST00000354624.5	+	10	1620	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	496					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCTGAGCTGGAGTATGGGCTG	0.657													4	37	---	---	---	---	0	0
GRID1	2894	broad.mit.edu	37	10	87407079	87407079	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:87407079G>A	ENST00000327946.7	-	13	2158	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	GRID1_ENST00000536331.1_Silent_p.F262F|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	691						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCTTGGCTCGGAAGTACTCAT	0.552										Multiple Myeloma(13;0.14)			8	331	---	---	---	---	0	0
IFIT5	24138	broad.mit.edu	37	10	91177946	91177946	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:91177946C>T	ENST00000371795.4	+	2	1203	c.990C>T	c.(988-990)gcC>gcT	p.A330A	IFIT5_ENST00000416601.1_Silent_p.A282A	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	330							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TCAAAGCAGCCATGGAACGAG	0.433													31	159	---	---	---	---	0	0
PITX3	5309	broad.mit.edu	37	10	103990274	103990274	+	Silent	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:103990274T>C	ENST00000370002.3	-	4	1059	c.906A>G	c.(904-906)gtA>gtG	p.V302V	PITX3_ENST00000539804.1_Silent_p.V302V	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	302					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGCCGCTCATACGGGCCTTT	0.667													3	21	---	---	---	---	0	0
TRIM68	55128	broad.mit.edu	37	11	4626487	4626487	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:4626487C>T	ENST00000300747.5	-	2	537	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	83					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R83H(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTAGCAGACGGACTTTTTC	0.532													31	151	---	---	---	---	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2022195	2022195	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr12:2022195C>T	ENST00000382722.5	-	3	782	c.420G>A	c.(418-420)gcG>gcA	p.A140A	CACNA2D4_ENST00000585732.1_Silent_p.A140A|CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000586184.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	140						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCTGGACCGCCTCGACTT	0.597													8	30	---	---	---	---	0	0
VWA9	81556	broad.mit.edu	37	15	65871953	65871953	+	Silent	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr15:65871953C>G	ENST00000395644.4	-	12	1685	c.1350G>C	c.(1348-1350)ctG>ctC	p.L450L	VWA9_ENST00000431261.2_Silent_p.L371L|VWA9_ENST00000567744.1_Silent_p.L486L|VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000313182.2_Silent_p.L450L					von Willebrand factor A domain containing 9																		TCAGCAGGTCCAGGAAACCAA	0.527													5	42	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9082695	9082695	+	Silent	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:9082695T>A	ENST00000397910.4	-	1	9323	c.9120A>T	c.(9118-9120)acA>acT	p.T3040T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3041	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGGAAGCTTGTTTCTTTCT	0.483													8	72	---	---	---	---	0	0
TRMT1	55621	broad.mit.edu	37	19	13216326	13216326	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:13216326C>T	ENST00000592062.1	-	16	2248	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S|TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	560							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGCCGGGGACCCCAGTTGGCC	0.657													21	143	---	---	---	---	0	0
ACPT	93650	broad.mit.edu	37	19	51297838	51297838	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:51297838G>A	ENST00000270593.1	+	9	986	c.986G>A	c.(985-987)gGg>gAg	p.G329E	ACPT_ENST00000270594.3_Splice_Site_p.G236E	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	329						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AAAGATGGAGGGTGAGAATGG	0.612													4	35	---	---	---	---	0	0
LILRB5	0	broad.mit.edu	37	19	54756362	54756362	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:54756362C>T	ENST00000450632.1	-	10	1575	c.1498G>A	c.(1498-1500)Ggc>Agc	p.G500S	LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000316219.5_Missense_Mutation_p.G508S			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	508					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGCAGGCCCTGGTCCTTG	0.627													27	89	---	---	---	---	0	0
ACRC	93953	broad.mit.edu	37	X	70828895	70828895	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:70828895T>A	ENST00000373695.1	+	9	2076	c.1539T>A	c.(1537-1539)aaT>aaA	p.N513K	ACRC_ENST00000373696.3_Missense_Mutation_p.N513K			Q96QF7	ACRC_HUMAN	acidic repeat containing	513	Arg/Lys/Pro-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGAAAAAATTTAAAGCGAA	0.363													12	15	---	---	---	---	0	0
ATG4A	115201	broad.mit.edu	37	X	107396937	107396937	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:107396937G>A	ENST00000372232.3	+	13	1351	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000489247.1_3'UTR|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	398					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						GATTCTGAGTGTGTAGAATCC	0.393													6	69	---	---	---	---	0	0
PASD1	139135	broad.mit.edu	37	X	150832695	150832695	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:150832695C>G	ENST00000370357.4	+	11	1191	c.946C>G	c.(946-948)Cag>Gag	p.Q316E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	316						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGTGGACCAGGAGGGCCC	0.587													21	45	---	---	---	---	0	0
ENO1	2023	broad.mit.edu	37	1	8923006	8923006	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:8923006T>C	ENST00000234590.4	-	11	1296		c.e11-2			NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)						gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCTTGATCTAGGAGAAAAG	0.532											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29	---	---	---	---	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378219	16378219	+	Missense_Mutation	SNP	C	C	T	rs121909133		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:16378219C>T	ENST00000375679.4	+	14	1423	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb									p.R438C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTATCGGGCGCCTCTTTGG	0.617													9	260	---	---	---	---	0	0
KIFAP3	22920	broad.mit.edu	37	1	169953739	169953739	+	Silent	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:169953739T>C	ENST00000367765.1	-	12	2758	c.1257A>G	c.(1255-1257)gtA>gtG	p.V419V	KIFAP3_ENST00000538366.1_Silent_p.V381V|KIFAP3_ENST00000367767.1_Silent_p.V415V|KIFAP3_ENST00000361580.2_Silent_p.V459V|KIFAP3_ENST00000540905.1_Silent_p.V161V	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	459					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGATAAGCTGTACATTTCTTT	0.328													8	58	---	---	---	---	0	0
EPB41L5	57669	broad.mit.edu	37	2	120932465	120932465	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr2:120932465A>G	ENST00000443902.2	+	24	2195	c.2053A>G	c.(2053-2055)Act>Gct	p.T685A	AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000263713.5_Silent_p.L728L|EPB41L5_ENST00000452780.1_Silent_p.L727L	NM_001184937.1	NP_001171866.1	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	0						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGAAGTGTTTACTGACCACTG	0.512													27	157	---	---	---	---	0	0
IQCF3	401067	broad.mit.edu	37	3	51864455	51864455	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:51864455A>T	ENST00000456080.1	+	8	1268	c.103A>T	c.(103-105)Aag>Tag	p.K35*	IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000444293.1_Intron			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	35										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAAAGGGTGAAGGCAGCTGG	0.567													15	43	---	---	---	---	0	0
RYBP	23429	broad.mit.edu	37	3	72428400	72428400	+	Splice_Site	SNP	A	A	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:72428400A>T	ENST00000477973.2	-	2	600		c.e2+1			NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein						apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CCAGAAACTTACTTGGTTTTC	0.328													28	99	---	---	---	---	0	0
KCNAB1	7881	broad.mit.edu	37	3	156192555	156192555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:156192555G>T	ENST00000302490.8	+	8	1421	c.550G>T	c.(550-552)Gag>Tag	p.E184*	KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Nonsense_Mutation_p.E202*|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Intron	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	202						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCTGCAGCTCGAGTATGTGGA	0.433													14	128	---	---	---	---	0	0
HELQ	113510	broad.mit.edu	37	4	84370065	84370065	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr4:84370065A>T	ENST00000295488.3	-	3	1224	c.1062T>A	c.(1060-1062)aaT>aaA	p.N354K	HELQ_ENST00000510985.1_Missense_Mutation_p.N354K	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	354	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AATATATTAAATTTTTTCTTT	0.338								Other identified genes with known or suspected DNA repair function					3	31	---	---	---	---	0	0
AGA	175	broad.mit.edu	37	4	178360790	178360790	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr4:178360790T>C	ENST00000264595.2	-	3	461	c.334A>G	c.(334-336)Att>Gtt	p.I112V	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	112					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	p.I112V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GCCACACCAATAGCATTTTTA	0.368													38	271	---	---	---	---	0	0
PCDH1	5097	broad.mit.edu	37	5	141242917	141242917	+	Silent	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr5:141242917C>T	ENST00000287008.3	-	3	3126	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.V971V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000394536.3_Silent_p.V993V	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	993					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGTCCTGTACCACCTGGTGCT	0.637													3	24	---	---	---	---	0	0
USP45	85015	broad.mit.edu	37	6	99955361	99955361	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr6:99955361T>C	ENST00000327681.6	-	4	852	c.320A>G	c.(319-321)aAg>aGg	p.K107R	USP45_ENST00000500704.2_Missense_Mutation_p.K107R|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000329966.6_Missense_Mutation_p.K107R|USP45_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000472914.2_Missense_Mutation_p.K107R	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	107					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCTGGAACTCTTAAAGTGCTT	0.333													3	70	---	---	---	---	0	0
CDK13	8621	broad.mit.edu	37	7	40085626	40085626	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:40085626T>C	ENST00000181839.4	+	6	3148		c.e6+2		CDK13_ENST00000340829.5_Splice_Site|CDK13_ENST00000484589.1_Splice_Site	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13						alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAATAATAGGTATGGGTATGA	0.373													31	101	---	---	---	---	0	0
CNGB3	54714	broad.mit.edu	37	8	87645021	87645021	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr8:87645021A>C	ENST00000320005.5	-	11	1326	c.1279T>G	c.(1279-1281)Ttt>Gtt	p.F427V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	427					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCAGAAAAAAAATTCAAGAGT	0.358													4	24	---	---	---	---	0	0
AAED1	195827	broad.mit.edu	37	9	99404081	99404081	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr9:99404081T>C	ENST00000375234.3	-	6	640	c.641A>G	c.(640-642)cAt>cGt	p.H214R		NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	214							antioxidant activity|oxidoreductase activity										AAAGTTCACATGCTGAACTCC	0.403													16	93	---	---	---	---	0	0
RPP38	10557	broad.mit.edu	37	10	15145358	15145358	+	Silent	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:15145358G>A	ENST00000378197.4	+	3	559	c.45G>A	c.(43-45)aaG>aaA	p.K15K	RPP38_ENST00000378202.5_Silent_p.K15K|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	15					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CTCTCCGTAAGACGAGACCTC	0.498													13	74	---	---	---	---	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702748	27702748	+	Silent	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:27702748C>T	ENST00000438700.3	-	1	549	c.432G>A	c.(430-432)gcG>gcA	p.A144A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	144					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCATCAAGGGCGCCAGCAGGA	0.667													12	78	---	---	---	---	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058166	81058166	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:81058166C>T	ENST00000334512.5	+	15	2067	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	499	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTCCAGCCTCCCAGGCCGGT	0.602													41	257	---	---	---	---	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676275	20676275	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:20676275G>A	ENST00000525748.1	+	16	2528	c.2255G>A	c.(2254-2256)tGc>tAc	p.C752Y	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	752					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AAGTTGGTGTGCTCGCCACAG	0.557													4	112	---	---	---	---	0	0
OR4X2	119764	broad.mit.edu	37	11	48266787	48266787	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:48266787C>A	ENST00000302329.3	+	1	180	c.132C>A	c.(130-132)agC>agA	p.S44R		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCATGACCAGCAGAAGCCTTG	0.502													14	117	---	---	---	---	0	0
PPP6R3	55291	broad.mit.edu	37	11	68315610	68315610	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:68315610G>T	ENST00000393799.2	+	5	757	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.D164Y			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	164					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGCTATCATGGATTTGTTGCT	0.428													4	114	---	---	---	---	0	0
KCTD14	65987	broad.mit.edu	37	11	77728307	77728307	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:77728307C>G	ENST00000353172.5	-	2	144	c.100G>C	c.(100-102)Gtt>Ctt	p.V34L	NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S|KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	34	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AGCTCCACAACAGTAGACATC	0.502													8	46	---	---	---	---	0	0
TRIM29	23650	broad.mit.edu	37	11	120008138	120008138	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:120008138G>A	ENST00000341846.5	-	1	1023	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	201					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTCCAGGTGGGGCTTGAGATG	0.647													7	35	---	---	---	---	0	0
SCN8A	6334	broad.mit.edu	37	12	52200821	52200821	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:52200821T>G	ENST00000354534.6	+	27	5729	c.5551T>G	c.(5551-5553)Ttc>Gtc	p.F1851V	SCN8A_ENST00000545061.1_Missense_Mutation_p.F1810V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTTTTTGCCTTCACCAAGCG	0.557													26	117	---	---	---	---	0	0
WIF1	11197	broad.mit.edu	37	12	65514270	65514270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:65514270T>C	ENST00000286574.4	-	2	589	c.215A>G	c.(214-216)aAa>aGa	p.K72R		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	72	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	p.K72I(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTGTTGTGCTTTTCTGAAATC	0.378			T	HMGA2	pleomorphic salivary gland adenoma								5	109	---	---	---	---	0	0
CAND1	55832	broad.mit.edu	37	12	67700301	67700301	+	Silent	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:67700301T>C	ENST00000545606.1	+	10	3290	c.2853T>C	c.(2851-2853)gtT>gtC	p.V951V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	951					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAAATGTTGTTGCTGAATGTC	0.423													12	75	---	---	---	---	0	0
ATP12A	479	broad.mit.edu	37	13	25255780	25255780	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:25255780G>T	ENST00000218548.6	+	2	423	c.90G>T	c.(88-90)aaG>aaT	p.K30N	ATP12A_ENST00000381946.3_Missense_Mutation_p.K30N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	30					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCAAGGAGAAGTATAGGGGTC	0.473													9	67	---	---	---	---	0	0
RB1	5925	broad.mit.edu	37	13	48934221	48934221	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:48934221T>C	ENST00000267163.4	+	7	814	c.676T>C	c.(676-678)Ttt>Ctt	p.F226L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	226					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTTGACTATTTTATTAAACT	0.313		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			19	91	---	---	---	---	0	0
GPC6	10082	broad.mit.edu	37	13	94482577	94482577	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:94482577T>C	ENST00000377047.4	+	3	1105	c.490T>C	c.(490-492)Ttt>Ctt	p.F164L	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	164						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCTCAATGACTTTTGGGCTCG	0.468													4	68	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38061231	38061231	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr14:38061231A>G	ENST00000250448.2	-	2	819	c.758T>C	c.(757-759)aTg>aCg	p.M253T	FOXA1_ENST00000540786.1_Missense_Mutation_p.M220T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	253					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTCTCGAACATGTTGCCGGA	0.687													4	28	---	---	---	---	0	0
MAP1A	4130	broad.mit.edu	37	15	43815432	43815432	+	Silent	SNP	A	A	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr15:43815432A>G	ENST00000382031.1	+	5	2506	c.2475A>G	c.(2473-2475)gaA>gaG	p.E825E	MAP1A_ENST00000300231.5_Silent_p.E587E|MAP1A_ENST00000399453.1_Silent_p.E587E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	587						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAAGAAGAACATGTGATGA	0.537													6	22	---	---	---	---	0	0
PRR25	388199	broad.mit.edu	37	16	857600	857600	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:857600A>C	ENST00000301698.1	+	2	597	c.597A>C	c.(595-597)ttA>ttC	p.L199F		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	199										large_intestine(1)|lung(1)|skin(1)	3						CCCTGCATTTAGAGAAGGGGG	0.701													5	52	---	---	---	---	0	0
CDH11	1009	broad.mit.edu	37	16	65005959	65005959	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:65005959G>T	ENST00000394156.3	-	10	1852	c.1399C>A	c.(1399-1401)Cat>Aat	p.H467N	CDH11_ENST00000268603.4_Missense_Mutation_p.H467N|CDH11_ENST00000566827.1_Missense_Mutation_p.H341N			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	467	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTTCCTGATGCCGATTGTCT	0.478			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			6	47	---	---	---	---	0	0
DPEP3	64180	broad.mit.edu	37	16	68010634	68010634	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:68010634C>T	ENST00000268793.4	-	8	1511	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	355					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCACCAATCCCGATGAACTCA	0.552													7	46	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr17:47696424G>T	ENST00000393331.3	-	7	869	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)			15	135	---	---	---	---	0	0
CDC37	11140	broad.mit.edu	37	19	10506785	10506785	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr19:10506785C>G	ENST00000222005.2	-	2	250	c.197G>C	c.(196-198)aGg>aCg	p.R66T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	66					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTTCAGTTTCCTCTGGCACTC	0.677													27	122	---	---	---	---	0	0
NPHS1	4868	broad.mit.edu	37	19	36333346	36333346	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr19:36333346T>G	ENST00000378910.5	-	18	2440	c.2441A>C	c.(2440-2442)tAc>tCc	p.Y814S	NPHS1_ENST00000353632.6_Missense_Mutation_p.Y814S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	814	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATGCACTGGTAAGCGCCAGC	0.582													19	103	---	---	---	---	0	0
ANGPT4	51378	broad.mit.edu	37	20	861826	861826	+	Silent	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr20:861826C>T	ENST00000381922.3	-	5	1041	c.939G>A	c.(937-939)acG>acA	p.T313T	ANGPT4_ENST00000546022.1_Silent_p.T313T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	313	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCCTGGGCTTCGTTGCATTGG	0.597													9	32	---	---	---	---	0	0
SCMH1	22955	broad.mit.edu	37	1	41494399	41494399	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:41494399C>A	ENST00000402904.2	-	15	2083		c.e15-1		SCMH1_ENST00000361705.3_Splice_Site|SCMH1_ENST00000397174.2_Splice_Site|SCMH1_ENST00000472037.1_Splice_Site|SCMH1_ENST00000372597.1_Splice_Site|SCMH1_ENST00000326197.7_Splice_Site|SCMH1_ENST00000372596.1_Splice_Site|SCMH1_ENST00000456518.2_Splice_Site|SCMH1_ENST00000361191.5_Splice_Site|SCMH1_ENST00000397171.2_Splice_Site|SCMH1_ENST00000337495.5_Splice_Site|SCMH1_ENST00000372595.1_Splice_Site	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)						anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CGGTCCGACCCTGCAGGACAG	0.597													4	81	---	---	---	---	0	0
FCGR2B	2213	broad.mit.edu	37	1	161647303	161647303	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:161647303C>A	ENST00000367962.4	+	8	1020	c.893C>A	c.(892-894)cCg>cAg	p.P298Q	FCGR2B_ENST00000367961.4_Missense_Mutation_p.P291Q|FCGR2B_ENST00000236937.9_Missense_Mutation_p.P279Q|FCGR2B_ENST00000358671.5_Missense_Mutation_p.P298Q|FCGR2B_ENST00000403078.3_Missense_Mutation_p.P279Q|FCGR2B_ENST00000367960.5_Missense_Mutation_p.P291Q			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	298					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCATGCACCCGGATGCTCTG	0.468			T	?	ALL								4	185	---	---	---	---	0	0
ASAP2	8853	broad.mit.edu	37	2	9496433	9496433	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:9496433G>T	ENST00000281419.3	+	14	1626	c.1286G>T	c.(1285-1287)aGg>aTg	p.R429M	ASAP2_ENST00000315273.4_Missense_Mutation_p.R429M	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	429	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GAAGTGCAGAGGATGACGGGC	0.493													3	42	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179451941	179451941	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:179451941C>A	ENST00000589042.1	-	307	64221	c.63997G>T	c.(63997-63999)Ggg>Tgg	p.G21333W	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12460W|TTN_ENST00000591111.1_Missense_Mutation_p.G19692W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12393W|TTN_ENST00000460472.2_Missense_Mutation_p.G12268W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18765W|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19692	Ig-like 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G18765W(1)|p.G18763W(1)|p.G12460W(1)|p.G12268W(1)|p.G12393W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTCATTCCCAGGGACAAGA	0.453													4	157	---	---	---	---	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501531	220501531	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:220501531C>A	ENST00000358055.3	+	16	2982	c.2470C>A	c.(2470-2472)Cag>Aag	p.Q824K	SLC4A3_ENST00000317151.3_Missense_Mutation_p.Q824K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.Q824K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.Q851K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.Q851K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	824	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTTTCACCCAGGAGATCTT	0.577													4	192	---	---	---	---	0	0
RBM15B	29890	broad.mit.edu	37	3	51430154	51430154	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr3:51430154G>T	ENST00000323686.4	+	1	1424	c.1324G>T	c.(1324-1326)Ggg>Tgg	p.G442W		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	442	RRM 3.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGACCGCTTTGGGAGCATTCG	0.577													4	132	---	---	---	---	0	0
ABCC5	10057	broad.mit.edu	37	3	183667559	183667559	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr3:183667559C>T	ENST00000334444.6	-	22	3449	c.3209G>A	c.(3208-3210)gGg>gAg	p.G1070E	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1070	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAACTCCTGCCCTTTATTGTA	0.562													11	35	---	---	---	---	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99300221	99300221	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr4:99300221C>A	ENST00000408927.3	+	5	528	c.415C>A	c.(415-417)Cat>Aat	p.H139N	RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.H140N|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.H140N|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000264572.7_Intron	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	139							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGTAATTGACCATTTAAGGTC	0.378			T	NUP98	T-ALL								4	119	---	---	---	---	0	0
TCF21	0	broad.mit.edu	37	6	134212927	134212927	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr6:134212927C>G	ENST00000367882.4	+	2	787	c.527C>G	c.(526-528)aCc>aGc	p.T176S	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T176S	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	176					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TTATGTGGAACCACCGCGTCC	0.657													5	41	---	---	---	---	0	0
HDAC9	9734	broad.mit.edu	37	7	18687446	18687446	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr7:18687446G>A	ENST00000406451.4	+	10	1215	c.1065G>A	c.(1063-1065)acG>acA	p.T355T	HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000428307.2_Silent_p.T311T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000524023.1_Silent_p.T278T|HDAC9_ENST00000432645.2_Silent_p.T355T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000456174.2_Silent_p.T327T	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGTGTGAGACGCAGACGCTTA	0.493													5	12	---	---	---	---	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95705500	95705500	+	Silent	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr7:95705500T>C	ENST00000324972.6	+	15	1885	c.1692T>C	c.(1690-1692)aaT>aaC	p.N564N	DYNC1I1_ENST00000437599.1_Silent_p.N544N|DYNC1I1_ENST00000537881.1_Silent_p.N527N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000447467.2_Silent_p.N547N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	564					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACCTCAACAATGACACCGAGG	0.642											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	20	---	---	---	---	0	0
ADAM18	8749	broad.mit.edu	37	8	39525629	39525629	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:39525629G>T	ENST00000265707.5	+	14	1484	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCATTGAATGGCCGTTTGTGC	0.408													52	203	---	---	---	---	0	0
ADAM18	8749	broad.mit.edu	37	8	39525630	39525630	+	Silent	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:39525630C>T	ENST00000265707.5	+	14	1485	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	ADAM18_ENST00000379866.1_Silent_p.G456G|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTGAATGGCCGTTTGTGCA	0.403													55	201	---	---	---	---	0	0
ZNF488	118738	broad.mit.edu	37	10	48370598	48370598	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr10:48370598G>T	ENST00000395702.2	+	2	293	c.66G>T	c.(64-66)aaG>aaT	p.K22N	ZNF488_ENST00000494156.1_Missense_Mutation_p.K22N|ZNF488_ENST00000586537.1_5'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CAGCTGGGAAGGGAGCCCCGT	0.622													4	112	---	---	---	---	0	0
TACC2	10579	broad.mit.edu	37	10	123843719	123843719	+	Silent	SNP	A	A	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr10:123843719A>T	ENST00000369005.1	+	4	2044	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	568						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTAAAGAAGGAAGCAGATCAC	0.592													13	27	---	---	---	---	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789258	6789258	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:6789258G>A	ENST00000338569.2	-	1	1028	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAATGTGCCAGCAGTATGTAT	0.483													3	79	---	---	---	---	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73078754	73078754	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:73078754G>T	ENST00000263674.3	+	21	6471	c.6121G>T	c.(6121-6123)Ggg>Tgg	p.G2041W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2041					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACTCAGCAGTGGGGGCGGCAG	0.647													4	191	---	---	---	---	0	0
PCF11	51585	broad.mit.edu	37	11	82877716	82877716	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:82877716T>A	ENST00000298281.4	+	5	2229	c.1777T>A	c.(1777-1779)Tct>Act	p.S593T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	593					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAGTTCCAAGTCTGCCAAAAG	0.363													24	72	---	---	---	---	0	0
TUBA1C	84790	broad.mit.edu	37	12	49666942	49666942	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr12:49666942C>A	ENST00000301072.6	+	4	1557	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I	TUBA1C_ENST00000541364.1_Missense_Mutation_p.L498I|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	428					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CATGGCTGCCCTTGAGAAGGA	0.512													4	180	---	---	---	---	0	0
VPS13C	54832	broad.mit.edu	37	15	62212807	62212807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr15:62212807C>A	ENST00000261517.5	-	56	7175	c.7102G>T	c.(7102-7104)Gga>Tga	p.G2368*	VPS13C_ENST00000395898.3_Nonsense_Mutation_p.G2325*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.G2325*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.G2368*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2368					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAATCATCTCCTGGCAGCAAA	0.289													3	54	---	---	---	---	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39412068	39412068	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:39412068G>A	ENST00000394008.1	+	1	433	c.431G>A	c.(430-432)tGc>tAc	p.C144Y		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	144						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CGCCCCGCCTGCTGTGAGACC	0.612													7	251	---	---	---	---	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175835	40175835	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:40175835A>G	ENST00000307641.5	+	4	1121	c.500A>G	c.(499-501)aAg>aGg	p.K167R	NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	167	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				TTGGCCAGCAAGATGACGCAA	0.612													5	71	---	---	---	---	0	0
ARSG	22901	broad.mit.edu	37	17	66364821	66364821	+	Silent	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:66364821G>T	ENST00000448504.2	+	7	1633	c.837G>T	c.(835-837)ctG>ctT	p.L279L	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.L115L	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	279					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGACAGTCTGGTGGGCCAGA	0.542													4	185	---	---	---	---	0	0
DNAH17	8632	broad.mit.edu	37	17	76503647	76503647	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:76503647G>T	ENST00000389840.5	-	28	4589	c.4465C>A	c.(4465-4467)Cag>Aag	p.Q1489K	DNAH17_ENST00000585328.1_Missense_Mutation_p.Q1490K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGTTCGCTGGACCTCAAAC	0.597													3	26	---	---	---	---	0	0
EPG5	57724	broad.mit.edu	37	18	43497668	43497668	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr18:43497668T>C	ENST00000282041.5	-	17	3249	c.3215A>G	c.(3214-3216)cAg>cGg	p.Q1072R		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1072					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGGTAATACTGGCAAGGGTA	0.428													45	126	---	---	---	---	0	0
TRIP10	9322	broad.mit.edu	37	19	6750305	6750305	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:6750305G>A	ENST00000600428.1	+	12	1552	c.906G>A	c.(904-906)gcG>gcA	p.A302A	TRIP10_ENST00000596758.1_Silent_p.A410A|TRIP10_ENST00000313285.8_Silent_p.A410A|TRIP10_ENST00000313244.9_Silent_p.A466A|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	466	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCTCCCAGGCGTGGCTGGCAG	0.667													30	145	---	---	---	---	0	0
ASXL1	171023	broad.mit.edu	37	20	31024752	31024752	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:31024752T>G	ENST00000375687.4	+	13	4661	c.4237T>G	c.(4237-4239)Tta>Gta	p.L1413V	ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1413					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTCTGGAAATTACCCCGAGA	0.542			"""F, N, Mis"""		"""MDS, CMML"""								3	162	---	---	---	---	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991280	39991280	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:39991280C>T	ENST00000332312.3	-	4	1121	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	310						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCCCAGAGTCGGTGCAGCCG	0.667													3	19	---	---	---	---	0	0
KDM6A	7403	broad.mit.edu	37	X	44969495	44969495	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:44969495G>A	ENST00000377967.4	+	28	4217		c.e28+1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTTACATTAGTAAGTCAAAT	0.378			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								28	33	---	---	---	---	0	0
GABRD	2563	broad.mit.edu	37	1	1957026	1957026	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:1957026G>A	ENST00000378585.4	+	4	402	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	107						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCACACCAACGAGACCCTGGG	0.637													9	87	---	---	---	---	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	rs143742734	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557													19	124	---	---	---	---	0	0
HPCA	3208	broad.mit.edu	37	1	33354639	33354639	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:33354639A>G	ENST00000373467.3	+	2	242	c.140A>G	c.(139-141)gAg>gGg	p.E47G	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	47	EF-hand 1.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AATGTGGATGAGTTCAAGAAG	0.537													9	79	---	---	---	---	0	0
FLG2	388698	broad.mit.edu	37	1	152329230	152329230	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:152329230G>C	ENST00000388718.5	-	3	1104	c.1032C>G	c.(1030-1032)aaC>aaG	p.N344K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	344	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTACAGGGGTTAGACTCAG	0.502													10	139	---	---	---	---	0	0
ANKRD45	339416	broad.mit.edu	37	1	173593981	173593981	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:173593981C>G	ENST00000333279.2	-	5	735	c.675G>C	c.(673-675)caG>caC	p.Q225H		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	241										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GTTGTTGTCTCTGCTCAAAAA	0.393													9	48	---	---	---	---	0	0
RNF103	7844	broad.mit.edu	37	2	86847496	86847496	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:86847496T>C	ENST00000237455.4	-	2	1291	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	108					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CACAAGCTCATAGAAGTGCAT	0.403													11	71	---	---	---	---	0	0
SAP130	79595	broad.mit.edu	37	2	128703100	128703100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:128703100T>C	ENST00000357702.5	-	19	3040	c.2909A>G	c.(2908-2910)aAt>aGt	p.N970S	SAP130_ENST00000259235.3_Missense_Mutation_p.N935S|SAP130_ENST00000259234.6_Missense_Mutation_p.N943S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	935	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCCTTTCTGATTAGCTATTTC	0.408													4	68	---	---	---	---	0	0
THSD7B	80731	broad.mit.edu	37	2	137814399	137814399	+	Silent	SNP	T	T	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:137814399T>G	ENST00000409968.1	+	3	727	c.549T>G	c.(547-549)tcT>tcG	p.S183S	THSD7B_ENST00000413152.2_Silent_p.S152S|THSD7B_ENST00000543459.1_Silent_p.S42S|THSD7B_ENST00000272643.3_Silent_p.S183S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGTAGTATCTGAGTTCTTAC	0.493													13	246	---	---	---	---	0	0
SCN1A	6323	broad.mit.edu	37	2	166859166	166859166	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:166859166T>C	ENST00000423058.2	-	21	4117	c.4100A>G	c.(4099-4101)aAt>aGt	p.N1367S	SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1367S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1339S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1367			N -> K (in SMEI; dbSNP:rs121918760).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGCAAACAAATTTACGCCCAT	0.388													6	68	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179605764	179605764	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:179605764C>G	ENST00000589042.1	-	48	12420	c.12196G>C	c.(12196-12198)Gac>Cac	p.D4066H	TTN_ENST00000591111.1_Missense_Mutation_p.D3749H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D3895H|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3749							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCTGAGTCAAGTGCTTCA	0.438													48	132	---	---	---	---	0	0
EXOC1	55763	broad.mit.edu	37	4	56744213	56744213	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr4:56744213A>G	ENST00000381295.2	+	9	1553	c.1205A>G	c.(1204-1206)aAa>aGa	p.K402R	EXOC1_ENST00000349598.6_Missense_Mutation_p.K402R|EXOC1_ENST00000346134.7_Missense_Mutation_p.K402R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	402					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GATTATGGAAAATATGAAGGA	0.383													25	66	---	---	---	---	0	0
PCDHA5	0	broad.mit.edu	37	5	140202764	140202764	+	Silent	SNP	G	G	A	rs17844294		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140202764G>A	ENST00000529859.1	+	1	1404	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.P468P	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCAGGCTGCC	0.677													26	125	---	---	---	---	0	0
PCDHA7	0	broad.mit.edu	37	5	140214180	140214180	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140214180G>A	ENST00000525929.1	+	1	212	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAATTCCGTGGGGATCTT	0.617													15	247	---	---	---	---	0	0
FBXO38	81545	broad.mit.edu	37	5	147796680	147796680	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:147796680A>C	ENST00000340253.5	+	12	1699	c.1531A>C	c.(1531-1533)Aac>Cac	p.N511H	FBXO38_ENST00000296701.6_Missense_Mutation_p.N511H|FBXO38_ENST00000394370.3_Missense_Mutation_p.N511H|FBXO38_ENST00000513826.1_Missense_Mutation_p.N511H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	511						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACGACAACAATCACCA	0.473													12	31	---	---	---	---	0	0
PKHD1	5314	broad.mit.edu	37	6	51612955	51612955	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:51612955A>C	ENST00000371117.3	-	58	9734	c.9459T>G	c.(9457-9459)ttT>ttG	p.F3153L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3153					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCATAGTCAAAGTTCTTGA	0.408													16	209	---	---	---	---	0	0
FAM83B	222584	broad.mit.edu	37	6	54805411	54805411	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:54805411C>A	ENST00000306858.7	+	5	1758	c.1642C>A	c.(1642-1644)Ccc>Acc	p.P548T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	548										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTATTTAAACCCACTTTACC	0.423													5	64	---	---	---	---	0	0
PDE10A	10846	broad.mit.edu	37	6	165752808	165752808	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:165752808T>C	ENST00000366882.1	-	21	2261	c.2107A>G	c.(2107-2109)Atg>Gtg	p.M703V	PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V|PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	703					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTGTCCATCATAGGAATAGGC	0.353													4	126	---	---	---	---	0	0
KLHL7	55975	broad.mit.edu	37	7	23207656	23207656	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr7:23207656C>G	ENST00000339077.5	+	9	1622	c.1379C>G	c.(1378-1380)aCa>aGa	p.T460R	KLHL7_ENST00000539124.1_Splice_Site_p.T384R|KLHL7_ENST00000409689.1_Splice_Site_p.T412R|KLHL7_ENST00000542558.1_Splice_Site_p.T235R|KLHL7_ENST00000545443.1_Splice_Site_p.T438R|KLHL7_ENST00000322231.7_Splice_Site_p.T438R	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCACAGAAACGTATGTATCT	0.368													4	42	---	---	---	---	0	0
FKBP9L	360132	broad.mit.edu	37	7	55755596	55755596	+	RNA	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr7:55755596G>T	ENST00000455909.1	-	0	410					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						GAACAATACTGTAAGTTTTGC	0.478													9	75	---	---	---	---	0	0
ERLIN2	11160	broad.mit.edu	37	8	37601885	37601885	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37601885G>A	ENST00000276461.5	+	5	316	c.249G>A	c.(247-249)atG>atA	p.M83I	ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000519638.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_Missense_Mutation_p.M83I	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	83					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGGTGTGATGATCTACTTTG	0.507													18	257	---	---	---	---	0	0
ERLIN2	11160	broad.mit.edu	37	8	37602094	37602094	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37602094G>A	ENST00000276461.5	+	6	371	c.304G>A	c.(304-306)Gat>Aat	p.D102N	ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000519638.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000518586.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.D102N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	102					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTCAGTGTATGATATAGTGAA	0.478													11	115	---	---	---	---	0	0
ERLIN2	11160	broad.mit.edu	37	8	37602102	37602102	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37602102G>A	ENST00000276461.5	+	6	379	c.312G>A	c.(310-312)gtG>gtA	p.V104V	ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000519638.1_Silent_p.V104V|ERLIN2_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V|ERLIN2_ENST00000518586.1_Silent_p.V104V|ERLIN2_ENST00000335171.6_Silent_p.V104V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	104					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATGATATAGTGAAGAACTATA	0.478													10	120	---	---	---	---	0	0
ERLIN2	11160	broad.mit.edu	37	8	37611003	37611003	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37611003G>C	ENST00000276461.5	+	11	842	c.775G>C	c.(775-777)Gat>Cat	p.D259H	ERLIN2_ENST00000519638.1_Missense_Mutation_p.D259H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	259	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCAAAGGCAGATGCTGAGTG	0.498													3	54	---	---	---	---	0	0
ADCY8	114	broad.mit.edu	37	8	131916039	131916039	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:131916039A>T	ENST00000286355.5	-	7	3982	c.1890T>A	c.(1888-1890)gaT>gaA	p.D630E	ADCY8_ENST00000377928.3_Missense_Mutation_p.D630E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	630					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCACGATATTATCAAAGGGCA	0.502										HNSCC(32;0.087)			10	73	---	---	---	---	0	0
DAPK1	1612	broad.mit.edu	37	9	90261436	90261436	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr9:90261436C>G	ENST00000469640.2	+	13	1567	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	DAPK1_ENST00000408954.3_Missense_Mutation_p.L398V|DAPK1_ENST00000358077.5_Missense_Mutation_p.L398V|DAPK1_ENST00000491893.1_Missense_Mutation_p.L398V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L398V			P53355	DAPK1_HUMAN	death-associated protein kinase 1	398					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACTACAGTTGCTCATTAAAAG	0.343									Chronic Lymphocytic Leukemia, Familial Clustering of				14	58	---	---	---	---	0	0
DIP2C	22982	broad.mit.edu	37	10	323440	323440	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:323440A>G	ENST00000280886.6	-	37	4583	c.4496T>C	c.(4495-4497)gTt>gCt	p.V1499A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1499						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCAAGGGAACCAGGTCCAA	0.542													5	40	---	---	---	---	0	0
ZEB1	6935	broad.mit.edu	37	10	31810040	31810040	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:31810040T>A	ENST00000446923.2	+	7	2120	c.1729T>A	c.(1729-1731)Ttg>Atg	p.L577M	ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000320985.10_Missense_Mutation_p.L593M|ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	593					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAACCTCTTGTCTCTCCT	0.438													8	84	---	---	---	---	0	0
PLAU	5328	broad.mit.edu	37	10	75673797	75673797	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:75673797A>G	ENST00000446342.1	+	7	1171	c.689A>G	c.(688-690)aAc>aGc	p.N230S	C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S	NM_001145031.1	NP_001138503	P00749	UROK_HUMAN	plasminogen activator, urokinase	247	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CTTAACTCCAACACGCAAGGG	0.502													6	54	---	---	---	---	0	0
TTC40	54777	broad.mit.edu	37	10	134622066	134622066	+	Silent	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:134622066C>G	ENST00000368586.5	-	58	8107	c.8007G>C	c.(8005-8007)ctG>ctC	p.L2669L	TTC40_ENST00000263170.5_Silent_p.L830L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	830										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATGGCGCACACAGGCAGGCAG	0.706													11	52	---	---	---	---	0	0
HBE1	3046	broad.mit.edu	37	11	5289795	5289795	+	Silent	SNP	A	A	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:5289795A>T	ENST00000380237.1	-	5	692	c.348T>A	c.(346-348)gcT>gcA	p.A116A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.A116A|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	116					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGTGAGTAGCCAGAATAA	0.488													19	135	---	---	---	---	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743040	26743040	+	Silent	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:26743040G>T	ENST00000396005.3	-	1	531	c.222C>A	c.(220-222)gtC>gtA	p.V74V	SLC5A12_ENST00000280467.6_Silent_p.V74V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	74					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAAGCGGTAGACTTCAGAAG	0.512													7	74	---	---	---	---	0	0
PTPRJ	5795	broad.mit.edu	37	11	48161138	48161138	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:48161138G>A	ENST00000418331.2	+	11	2605	c.2253G>A	c.(2251-2253)gaG>gaA	p.E751E		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	751	Fibronectin type-III 8.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGGCTTTGAGCTGGAGGTCA	0.562													5	53	---	---	---	---	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798549	55798549	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:55798549T>A	ENST00000313555.1	+	1	655	c.655T>A	c.(655-657)Ttc>Atc	p.F219I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TATTTCTTACTTCTGCATCCT	0.438													13	189	---	---	---	---	0	0
FAM111A	63901	broad.mit.edu	37	11	58919681	58919681	+	Silent	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:58919681A>G	ENST00000528737.1	+	5	3358	c.540A>G	c.(538-540)gaA>gaG	p.E180E	FAM111A_ENST00000420244.1_Silent_p.E180E|FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000531147.1_Silent_p.E180E|FAM111A_ENST00000533703.1_Silent_p.E180E			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	180					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CATCGACTGAATGTGTCAAAT	0.408													16	90	---	---	---	---	0	0
GLB1L3	112937	broad.mit.edu	37	11	134181019	134181019	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:134181019G>A	ENST00000431683.2	+	13	1242	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	414					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCGTGAGACCGTCGCTGTACC	0.622													22	364	---	---	---	---	0	0
STAB2	55576	broad.mit.edu	37	12	104107521	104107521	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr12:104107521C>T	ENST00000388887.2	+	42	4716	c.4512C>T	c.(4510-4512)taC>taT	p.Y1504Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1504	EGF-like 12.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGCAGGCTACACGGGTGATG	0.517													19	203	---	---	---	---	0	0
OR5AU1	390445	broad.mit.edu	37	14	21624148	21624148	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:21624148T>C	ENST00000304418.3	-	1	74	c.37A>G	c.(37-39)Ata>Gta	p.I13V		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATGAGTCTTATTGAGGGCATT	0.448													12	148	---	---	---	---	0	0
RNF31	55072	broad.mit.edu	37	14	24618082	24618082	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:24618082C>A	ENST00000324103.6	+	5	948	c.628C>A	c.(628-630)Cca>Aca	p.P210T	RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.P59T|RNF31_ENST00000559275.1_Missense_Mutation_p.P59T	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	210	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCCTCTGTCCCAGGTATTAT	0.458													16	171	---	---	---	---	0	0
RHOJ	57381	broad.mit.edu	37	14	63671716	63671716	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:63671716C>T	ENST00000316754.3	+	1	591	c.129C>T	c.(127-129)aaC>aaT	p.N43N	RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.N43N	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	43					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GCTACGCCAACGACGCCTTCC	0.572													7	50	---	---	---	---	0	0
SPTB	6710	broad.mit.edu	37	14	65246524	65246524	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:65246524C>T	ENST00000389722.3	-	20	4445	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	SPTB_ENST00000556626.1_Silent_p.L1464L|SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_Silent_p.L1464L|SPTB_ENST00000389721.5_Silent_p.L1464L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1464					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTAGGGGTTCCAGGAGGTCCA	0.582													6	133	---	---	---	---	0	0
IGHV3-11	0	broad.mit.edu	37	14	106573439	106573439	+	RNA	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:106573439T>A	ENST00000390601.2	-	0	264																											TAGTAGTCACTGAAGGTGAAT	0.557													28	190	---	---	---	---	0	0
IQGAP1	8826	broad.mit.edu	37	15	91040570	91040570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr15:91040570C>T	ENST00000268182.5	+	37	4982	c.4858C>T	c.(4858-4860)Cag>Tag	p.Q1620*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q1048*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1620	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTACATTATCAGGTGGGTAT	0.388													14	29	---	---	---	---	0	0
AXIN2	8313	broad.mit.edu	37	17	63553974	63553974	+	Silent	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:63553974C>G	ENST00000307078.5	-	2	1078	c.765G>C	c.(763-765)ctG>ctC	p.L255L	AXIN2_ENST00000375702.5_Silent_p.L255L|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	255					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCGTGGCCCTCAGAGTTTTGC	0.547									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				5	98	---	---	---	---	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682254	7682254	+	Silent	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:7682254T>C	ENST00000446248.2	+	17	3437	c.3336T>C	c.(3334-3336)ccT>ccC	p.P1112P	CAMSAP3_ENST00000160298.4_Silent_p.P1085P	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1085	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCGCCTGCCTGGAAGCCGCG	0.637													4	68	---	---	---	---	0	0
KANK2	25959	broad.mit.edu	37	19	11304613	11304613	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:11304613T>C	ENST00000432929.2	-	4	503	c.143A>G	c.(142-144)aAg>aGg	p.K48R	KANK2_ENST00000589359.1_Missense_Mutation_p.K48R|KANK2_ENST00000589894.1_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_Missense_Mutation_p.K48R|KANK2_ENST00000586659.1_Missense_Mutation_p.K48R	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	48										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCCACGTACTTGAGGAAGTC	0.692													17	52	---	---	---	---	0	0
ZNF443	10224	broad.mit.edu	37	19	12541355	12541355	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:12541355T>A	ENST00000301547.5	-	4	1828	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	544					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAGTTATCATAATGACCGAA	0.398													9	60	---	---	---	---	0	0
PCSK2	5126	broad.mit.edu	37	20	17436993	17436993	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:17436993G>A	ENST00000262545.2	+	10	1417	c.1102G>A	c.(1102-1104)Gca>Aca	p.A368T	PCSK2_ENST00000536609.1_Splice_Site_p.A333T|PCSK2_ENST00000377899.1_Splice_Site_p.A349T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	368	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCCTTCCAGGCAACCACAGA	0.488													15	180	---	---	---	---	0	0
FRG1B	0	broad.mit.edu	37	20	29633899	29633899	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:29633899G>A	ENST00000278882.3	+	9	918	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	FRG1B_ENST00000358464.4_Splice_Site_p.E180K																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAAACAAGAGAACCAAATTG	0.269													3	40	---	---	---	---	0	0
MN1	4330	broad.mit.edu	37	22	28196380	28196380	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:28196380G>A	ENST00000302326.4	-	1	1106	c.152C>T	c.(151-153)gCt>gTt	p.A51V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	51							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCGCTCATAGCAGGATCCAC	0.647			T	ETV6	"""AML, meningioma"""								6	81	---	---	---	---	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866203	30866203	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:30866203C>T	ENST00000215812.4	-	3	260	c.170G>A	c.(169-171)cGc>cAc	p.R57H	SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	57						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCTCACCTTGCGGAGCAAAGC	0.527													3	33	---	---	---	---	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735080	41735080	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:41735080T>G	ENST00000352645.4	+	9	958	c.701T>G	c.(700-702)cTg>cGg	p.L234R	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L234R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	250					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTCACGTTCTGGACCTGCTG	0.667													64	133	---	---	---	---	0	0
NHS	4810	broad.mit.edu	37	X	17750102	17750102	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:17750102A>G	ENST00000380060.3	+	8	4749	c.4411A>G	c.(4411-4413)Aca>Gca	p.T1471A	NHS_ENST00000398097.3_Missense_Mutation_p.T1315A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1471						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGTAATGTGACAACCCCCAA	0.493													14	82	---	---	---	---	0	0
GABRE	2564	broad.mit.edu	37	X	151124292	151124292	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:151124292C>G	ENST00000370325.1	-	7	878	c.825G>C	c.(823-825)agG>agC	p.R275S	GABRE_ENST00000370328.3_Missense_Mutation_p.R275S|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	275					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCAAACCGCCTGCTCACAT	0.488													13	50	---	---	---	---	0	0
MEGF6	1953	broad.mit.edu	37	1	3427388	3427388	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:3427388T>C	ENST00000356575.4	-	10	1419	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	398	EGF-like 7.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTAGCCGGCGTAGCAGCCGCA	0.682													4	28	---	---	---	---	0	0
TAS1R1	0	broad.mit.edu	37	1	6634741	6634741	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:6634741C>A	ENST00000333172.6	+	3	742	c.549C>A	c.(547-549)ccC>ccA	p.P183P	TAS1R1_ENST00000328191.4_Silent_p.P183P|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	183					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGCAGTATCCCTCTTTCCTGC	0.587													23	34	---	---	---	---	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534048	16534048	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16534048G>A	ENST00000270747.3	-	5	979	c.843C>T	c.(841-843)aaC>aaT	p.N281N		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	281					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCCGCTCGTTGGTGCTCC	0.622													7	20	---	---	---	---	0	0
CROCCP2	0	broad.mit.edu	37	1	16956572	16956572	+	RNA	SNP	G	G	A	rs112034187		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16956572G>A	ENST00000412962.1	-	0	294																											CACTCTCGCTGTCGCTAAGCT	0.642													5	33	---	---	---	---	0	0
TRIM62	55223	broad.mit.edu	37	1	33612961	33612961	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:33612961C>A	ENST00000291416.5	-	5	1478	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	415	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGACACCCACCTTGTCAAGCT	0.577													12	50	---	---	---	---	0	0
NASP	4678	broad.mit.edu	37	1	46073658	46073658	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46073658G>A	ENST00000350030.3	+	6	1162	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T	NASP_ENST00000402363.3_Missense_Mutation_p.A361T|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.A295T|NASP_ENST00000372052.4_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	359	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGCTGTAGAGGCTGGATCAGA	0.527													28	81	---	---	---	---	0	0
FAM73A	374986	broad.mit.edu	37	1	78338708	78338708	+	Missense_Mutation	SNP	C	C	T	rs149790967		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:78338708C>T	ENST00000370791.3	+	15	1615	c.1583C>T	c.(1582-1584)gCc>gTc	p.A528V	FAM73A_ENST00000443751.2_Missense_Mutation_p.A491V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	528						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GGATTTTTTGCCCATTTTTAT	0.388													23	90	---	---	---	---	0	0
CLCA1	1179	broad.mit.edu	37	1	86942145	86942145	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:86942145C>T	ENST00000234701.3	+	5	817	c.466C>T	c.(466-468)Cat>Tat	p.H156Y	CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	156					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGCATTTGTCCATGAGTGGGC	0.353													9	28	---	---	---	---	0	0
AMPD2	271	broad.mit.edu	37	1	110171762	110171762	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:110171762A>G	ENST00000256578.3	+	13	2125	c.1765A>G	c.(1765-1767)Aac>Gac	p.N589D	RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.N471D|AMPD2_ENST00000342115.4_Missense_Mutation_p.N508D|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.N589D|AMPD2_ENST00000358729.4_Missense_Mutation_p.N514D|AMPD2_ENST00000393688.3_Missense_Mutation_p.N470D	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	589					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCAGCTGGCCAACTTCCAGGA	0.577													13	21	---	---	---	---	0	0
ALX3	257	broad.mit.edu	37	1	110603475	110603475	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:110603475G>A	ENST00000369792.4	-	4	999	c.912C>T	c.(910-912)ccC>ccT	p.P304P	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	304						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGGGTGGGGGGAAAGCCAT	0.617													6	31	---	---	---	---	0	0
CAPZA1	829	broad.mit.edu	37	1	113197226	113197226	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:113197226G>T	ENST00000263168.3	+	5	1031	c.359G>T	c.(358-360)tGg>tTg	p.W120L	CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	120					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAAGTCTTGGAGAGAATCC	0.413													9	91	---	---	---	---	0	0
PTGFRN	5738	broad.mit.edu	37	1	117516856	117516856	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:117516856C>A	ENST00000393203.2	+	7	2225	c.2078C>A	c.(2077-2079)tCt>tAt	p.S693Y	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	693	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTTAATGCTTCTGTGCATTCA	0.423													32	61	---	---	---	---	0	0
S100A4	6275	broad.mit.edu	37	1	153516337	153516337	+	Silent	SNP	G	G	A	rs111468775	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:153516337G>A	ENST00000368716.4	-	3	351	c.204C>T	c.(202-204)aaC>aaT	p.N68N	S100A4_ENST00000368715.1_Silent_p.N68N|S100A4_ENST00000354332.4_Silent_p.N68N|S100A4_ENST00000368714.1_Silent_p.N68N|S100A4_ENST00000481009.1_5'UTR	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	68	EF-hand 2.				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTCCACCTCGTTGTCCCTGT	0.483													14	128	---	---	---	---	0	0
C1orf43	25912	broad.mit.edu	37	1	154179947	154179947	+	Silent	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:154179947T>A	ENST00000368521.5	-	7	942	c.744A>T	c.(742-744)acA>acT	p.T248T	C1orf43_ENST00000350592.3_Silent_p.T214T|C1orf43_ENST00000368519.1_Silent_p.T230T|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Silent_p.T196T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	248						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TACTCTCCAATGTGTTATAGT	0.507													29	61	---	---	---	---	0	0
CCDC19	25790	broad.mit.edu	37	1	159860404	159860404	+	Silent	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:159860404G>C	ENST00000368099.4	-	3	202	c.138C>G	c.(136-138)gcC>gcG	p.A46A	CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	46						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGGCCCTGGGCTGGGGACT	0.532													4	55	---	---	---	---	0	0
NCSTN	23385	broad.mit.edu	37	1	160314573	160314573	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:160314573C>A	ENST00000368063.1	+	3	367	c.87C>A	c.(85-87)ccC>ccA	p.P29P	NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000392212.4_Silent_p.P29P|NCSTN_ENST00000294785.5_Silent_p.P49P			Q92542	NICA_HUMAN	nicastrin	49					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAGCTCCCTGTGTTCGCC	0.428													4	23	---	---	---	---	0	0
SWT1	54823	broad.mit.edu	37	1	185259915	185259915	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:185259915A>G	ENST00000367500.4	+	19	2848	c.2683A>G	c.(2683-2685)Atg>Gtg	p.M895V	SWT1_ENST00000367501.3_Missense_Mutation_p.M895V	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	895										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTGTGAAGACATGCTCAACTA	0.403													11	16	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	186009011	186009011	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:186009011G>A	ENST00000271588.4	+	39	6409	c.6180G>A	c.(6178-6180)caG>caA	p.Q2060Q	HMCN1_ENST00000367492.2_Splice_Site_p.Q2060Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2060	Ig-like C2-type 18.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGATTACAGGTACCTTCAT	0.413													10	31	---	---	---	---	0	0
PRG4	10216	broad.mit.edu	37	1	186280171	186280171	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:186280171T>C	ENST00000445192.2	+	9	3550	c.3505T>C	c.(3505-3507)Tat>Cat	p.Y1169H	PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H|PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1169	Hemopexin-like 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTTAGGTCATTATTTCTGGAT	0.368													15	40	---	---	---	---	0	0
EPHX1	2052	broad.mit.edu	37	1	226016443	226016443	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:226016443A>G	ENST00000366837.4	+	2	209	c.13A>G	c.(13-15)Atc>Gtc	p.I5V	EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	5					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTGGCTAGAAATCCTCCTCAC	0.587													4	19	---	---	---	---	0	0
TTC13	79573	broad.mit.edu	37	1	231057237	231057237	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:231057237T>C	ENST00000366661.4	-	16	1835	c.1828A>G	c.(1828-1830)Aac>Gac	p.N610D	TTC13_ENST00000366662.4_Missense_Mutation_p.N557D|TTC13_ENST00000414259.1_Missense_Mutation_p.N557D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	610							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TATCTCATGTTGATCACCTGA	0.259													6	47	---	---	---	---	0	0
C1orf101	257044	broad.mit.edu	37	1	244724125	244724125	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:244724125G>A	ENST00000366534.4	+	10	1239	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	C1orf101_ENST00000366531.3_Silent_p.E244E|C1orf101_ENST00000366533.4_Silent_p.E395E|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	395						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACAGGGTTGAGTATACAGGAC	0.368													25	51	---	---	---	---	0	0
OR2M2	391194	broad.mit.edu	37	1	248343968	248343968	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:248343968C>T	ENST00000359682.2	+	1	681	c.681C>T	c.(679-681)caC>caT	p.H227H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTCATTCACATGGGATCTG	0.433													9	167	---	---	---	---	0	0
OR2T27	403239	broad.mit.edu	37	1	248813806	248813806	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:248813806C>A	ENST00000344889.3	-	1	379	c.380G>T	c.(379-381)tGc>tTc	p.C127F		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAGGGTTGCAGATGGCTAC	0.542													14	117	---	---	---	---	0	0
APLF	200558	broad.mit.edu	37	2	68717386	68717386	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:68717386T>C	ENST00000303795.4	+	2	332	c.161T>C	c.(160-162)aTc>aCc	p.I54T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	54	FHA-like.				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAGCTGCGAATCAAACCGGTA	0.368													3	8	---	---	---	---	0	0
DNAH6	1768	broad.mit.edu	37	2	84800604	84800604	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:84800604C>T	ENST00000389394.3	+	12	1954	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	DNAH6_ENST00000237449.6_Missense_Mutation_p.A606V|DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	606	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACCATTCAGGCCGCATTTGAA	0.328													8	54	---	---	---	---	0	0
TMEM131	23505	broad.mit.edu	37	2	98418415	98418415	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:98418415C>G	ENST00000186436.5	-	25	2889	c.2661G>C	c.(2659-2661)ttG>ttC	p.L887F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	887						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCACCTTACTCAAGTTAAACC	0.299													10	15	---	---	---	---	0	0
EPB41L5	57669	broad.mit.edu	37	2	120776691	120776691	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:120776691C>T	ENST00000263713.5	+	2	245	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	11						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AACACTAGGGCGTCGGTCTAT	0.453													10	124	---	---	---	---	0	0
GLI2	2736	broad.mit.edu	37	2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S			P10070	GLI2_HUMAN	GLI family zinc finger 2	91					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632													7	115	---	---	---	---	0	0
ACVR2A	92	broad.mit.edu	37	2	148602758	148602758	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:148602758C>G	ENST00000241416.7	+	1	673	c.37C>G	c.(37-39)Ctt>Gtt	p.L13V	ACVR2A_ENST00000535787.1_Intron|ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	13				L -> V (in Ref. 4; BAA06548).	activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGCCGTCTTTCTTATCTCCTG	0.647													14	23	---	---	---	---	0	0
SLC38A11	151258	broad.mit.edu	37	2	165809221	165809221	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:165809221A>G	ENST00000303735.4	-	2	387	c.57T>C	c.(55-57)gtT>gtC	p.V19V	SLC38A11_ENST00000409149.3_Silent_p.V19V|SLC38A11_ENST00000409058.1_Intron|SLC38A11_ENST00000409662.1_Silent_p.V19V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	19					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TTTTACCTGTAACATATGAAA	0.363													5	29	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179440959	179440959	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:179440959C>T	ENST00000589042.1	-	326	70124	c.69900G>A	c.(69898-69900)caG>caA	p.Q23300Q	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.Q21659Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21659	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACAACGAACTGAGTGATTC	0.468													5	32	---	---	---	---	0	0
PARD3B	117583	broad.mit.edu	37	2	206480515	206480515	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:206480515A>G	ENST00000406610.2	+	23	3803	c.3596A>G	c.(3595-3597)aAc>aGc	p.N1199S	PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1199					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGCAGAAGAACCCCATGACT	0.582													10	41	---	---	---	---	0	0
INHA	3623	broad.mit.edu	37	2	220439863	220439863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:220439863G>A	ENST00000243786.2	+	2	896	c.716G>A	c.(715-717)tGg>tAg	p.W239*		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	239					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGATGTCCTGGCCTTGGTCT	0.657													18	45	---	---	---	---	0	0
SAG	6295	broad.mit.edu	37	2	234237188	234237188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:234237188C>T	ENST00000409110.1	+	8	807	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	193					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCCCCAGCCCCGAGCTGAGGC	0.582													15	45	---	---	---	---	0	0
DGKD	8527	broad.mit.edu	37	2	234371288	234371288	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:234371288G>T	ENST00000264057.2	+	26	3105		c.e26-1		DGKD_ENST00000409813.3_Splice_Site	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTTCTTCTAGGGGCTCAACT	0.592													8	113	---	---	---	---	0	0
KLHL30	377007	broad.mit.edu	37	2	239049574	239049574	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:239049574C>T	ENST00000409223.1	+	2	286	c.179C>T	c.(178-180)gCc>gTc	p.A60V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A42V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	60	BTB.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TACTTCCATGCCATGTTTGCG	0.677													22	47	---	---	---	---	0	0
ITPR1	3708	broad.mit.edu	37	3	4847908	4847908	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:4847908G>A	ENST00000302640.8	+	54	7534	c.7184G>A	c.(7183-7185)tGt>tAt	p.C2395Y	ITPR1_ENST00000456211.2_Missense_Mutation_p.C2347Y|ITPR1_ENST00000544951.1_Missense_Mutation_p.C373Y|ITPR1_ENST00000443694.2_Missense_Mutation_p.C2395Y|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.C2362Y|ITPR1_ENST00000357086.4_Missense_Mutation_p.C2362Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C2395Y	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2410					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGGTGATCTGTGCCATGGGG	0.463													12	37	---	---	---	---	0	0
TADA3	10474	broad.mit.edu	37	3	9825746	9825746	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:9825746C>T	ENST00000343450.2	-	8	1619	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	TADA3_ENST00000440161.1_Missense_Mutation_p.A358T|TADA3_ENST00000301964.2_Missense_Mutation_p.A358T	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	358					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CGGTTGTGGGCACTAAGTGCC	0.627													5	20	---	---	---	---	0	0
OSBPL10	114884	broad.mit.edu	37	3	31705656	31705656	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:31705656C>T	ENST00000396556.2	-	11	2287	c.2165G>A	c.(2164-2166)cGg>cAg	p.R722Q	OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	722					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTCCAGGTGCCGCTTCTGCTC	0.602													6	66	---	---	---	---	0	0
VILL	50853	broad.mit.edu	37	3	38038579	38038579	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:38038579C>A	ENST00000283713.6	+	6	728	c.462C>A	c.(460-462)tcC>tcA	p.S154S	VILL_ENST00000383759.2_Silent_p.S154S|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	154					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGCTCTCCTGGAACAGCT	0.542											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	71	---	---	---	---	0	0
LARS2	23395	broad.mit.edu	37	3	45559536	45559536	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:45559536G>T	ENST00000415258.1	+	17	2327	c.2186G>T	c.(2185-2187)tGg>tTg	p.W729L	LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000265537.3_Missense_Mutation_p.W729L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	729					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGGAAGCTCTGGGAGTACAAG	0.517													7	22	---	---	---	---	0	0
GMPPB	29925	broad.mit.edu	37	3	49759676	49759676	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:49759676G>A	ENST00000480687.1	-	8	872	c.756C>T	c.(754-756)ggC>ggT	p.G252G	GMPPB_ENST00000308375.6_Silent_p.G252G|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Silent_p.G252G			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	252					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGCACGTTGCCCACAATGC	0.602													6	46	---	---	---	---	0	0
NISCH	11188	broad.mit.edu	37	3	52526219	52526219	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:52526219C>T	ENST00000345716.4	+	21	4370	c.4236C>T	c.(4234-4236)cgC>cgT	p.R1412R	NISCH_ENST00000479054.1_Silent_p.R1412R	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1412					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ATGGCCGCCGCGTCCGGGACC	0.627													18	62	---	---	---	---	0	0
FAM208A	23272	broad.mit.edu	37	3	56682861	56682861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:56682861C>T	ENST00000431842.2	-	6	1238	c.314G>A	c.(313-315)aGc>aAc	p.S105N	FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N|FAM208A_ENST00000493960.2_Missense_Mutation_p.S501N	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	501										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AGTAACTATGCTTCTAGGTTC	0.308													4	32	---	---	---	---	0	0
ALCAM	214	broad.mit.edu	37	3	105260577	105260577	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:105260577G>A	ENST00000306107.5	+	8	1459	c.959G>A	c.(958-960)aGc>aAc	p.S320N	ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	320	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GACAAAAAAAGCATGATTGCT	0.428													9	74	---	---	---	---	0	0
SNX4	8723	broad.mit.edu	37	3	125170172	125170172	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:125170172T>C	ENST00000251775.4	-	13	1306	c.1282A>G	c.(1282-1284)Atg>Gtg	p.M428V	SNX4_ENST00000536067.1_Missense_Mutation_p.M283V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	428					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CTGATCTGCATGACTGCATAG	0.363													19	138	---	---	---	---	0	0
COL6A6	131873	broad.mit.edu	37	3	130286065	130286065	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:130286065A>T	ENST00000358511.6	+	4	1833	c.1802A>T	c.(1801-1803)gAc>gTc	p.D601V	COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	601	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCATTGAAAGACATAAGAAAC	0.418													12	36	---	---	---	---	0	0
CP	1356	broad.mit.edu	37	3	148924002	148924002	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:148924002G>T	ENST00000264613.6	-	6	1423	c.1161C>A	c.(1159-1161)ccC>ccA	p.P387P		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	387	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.P387P(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTATACCAGAGGGAGCATAGT	0.403													27	67	---	---	---	---	0	0
PFN2	5217	broad.mit.edu	37	3	149684332	149684332	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:149684332C>T	ENST00000239940.7	-	3	619	c.367G>A	c.(367-369)Gga>Aga	p.G123R	PFN2_ENST00000498307.1_Missense_Mutation_p.G74R|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R|PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R|PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000423691.2_Intron			P35080	PROF2_HUMAN	profilin 2	123					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	p.G123R(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTATTCAATCCGCCTCCATGG	0.388													30	377	---	---	---	---	0	0
TIPARP	25976	broad.mit.edu	37	3	156411927	156411927	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:156411927G>A	ENST00000461166.1	+	3	1624	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	346	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTACCACACAGTCTGGAAATT	0.383													24	46	---	---	---	---	0	0
IL12A	3592	broad.mit.edu	37	3	159711354	159711354	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:159711354G>A	ENST00000305579.2	+	5	727		c.e5-1		IL12A_ENST00000466512.1_Splice_Site|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Splice_Site	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)						cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTTCCTCTAGAATGGGAGTT	0.388													8	84	---	---	---	---	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520891	175520891	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:175520891A>G	ENST00000454872.1	+	14	2416	c.2288A>G	c.(2287-2289)cAa>cGa	p.Q763R		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	763					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAGACCCTTCAAGAAGCCCTG	0.433													5	36	---	---	---	---	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952026	178952026	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:178952026C>A	ENST00000263967.3	+	21	3238	c.3081C>A	c.(3079-3081)gcC>gcA	p.A1027A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1027	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.A1027V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGACCCTAGCCTTAGATAAAA	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	75	---	---	---	---	0	0
TMEM128	85013	broad.mit.edu	37	4	4239662	4239662	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:4239662G>A	ENST00000254742.2	-	4	913	c.327C>T	c.(325-327)tgC>tgT	p.C109C	TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000540397.1_Splice_Site_p.C133C|TMEM128_ENST00000382753.4_Splice_Site_p.C133C	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN	transmembrane protein 128	133						integral to membrane				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		CAATGTTGAAGCTGAAAAGAA	0.343													8	33	---	---	---	---	0	0
MAN2B2	23324	broad.mit.edu	37	4	6610853	6610853	+	Missense_Mutation	SNP	C	C	T	rs151180999		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:6610853C>T	ENST00000285599.3	+	12	1870	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.R561C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	612					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCGAACGGTGCGCGTGACCCA	0.572													8	17	---	---	---	---	0	0
S100P	6286	broad.mit.edu	37	4	6695686	6695686	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:6695686C>T	ENST00000296370.3	+	1	891	c.27C>T	c.(25-27)ggC>ggT	p.G9G	S100P_ENST00000513778.1_Intron	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	9					endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicate(DB01003)	CAGCCATGGGCATGATCATAG	0.587													15	32	---	---	---	---	0	0
KCTD8	386617	broad.mit.edu	37	4	44450453	44450453	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:44450453C>T	ENST00000360029.3	-	1	371	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	30						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						gcggcggcggccgacgcgccg	0.687										HNSCC(17;0.042)			4	4	---	---	---	---	0	0
POLR2B	5431	broad.mit.edu	37	4	57876617	57876617	+	Silent	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:57876617A>C	ENST00000381227.1	+	12	1908	c.1495A>C	c.(1495-1497)Aga>Cga	p.R499R	POLR2B_ENST00000441246.2_Silent_p.R492R|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000314595.5_Silent_p.R499R|POLR2B_ENST00000510355.1_3'UTR			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	499					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGCAAAACCAAGACAGTTGCA	0.428													32	58	---	---	---	---	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101871	69101871	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:69101871T>C	ENST00000332644.5	-	3	399	c.238A>G	c.(238-240)Aag>Gag	p.K80E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	80	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGATTTACCTTAGTCTCAATA	0.284													11	20	---	---	---	---	0	0
FGF5	2250	broad.mit.edu	37	4	81207548	81207548	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:81207548G>T	ENST00000312465.7	+	3	755	c.529G>T	c.(529-531)Gca>Tca	p.A177S	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	177					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CTATGCCTCAGCAATACATAG	0.453													6	91	---	---	---	---	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169157	90169157	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:90169157G>C	ENST00000609438.1	-	2	2623	c.2105C>G	c.(2104-2106)gCa>gGa	p.A702G	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A702G	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGGACTCTGCGTCCAAGGA	0.502													6	35	---	---	---	---	0	0
STPG2	285555	broad.mit.edu	37	4	98633951	98633951	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:98633951T>C	ENST00000295268.3	-	10	1308	c.1219A>G	c.(1219-1221)Aat>Gat	p.N407D	STPG2_ENST00000506482.1_5'UTR	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		AAAACAGGATTGTATGCTGCA	0.348													17	13	---	---	---	---	0	0
HHIP	64399	broad.mit.edu	37	4	145580838	145580838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:145580838C>T	ENST00000296575.3	+	4	1334	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	HHIP_ENST00000434550.2_Missense_Mutation_p.R227W|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	227						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGTGGGCTGCGGCAGCCCGT	0.448													12	132	---	---	---	---	0	0
OTUD4	54726	broad.mit.edu	37	4	146058591	146058591	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:146058591C>T	ENST00000454497.2	-	21	3278	c.3141G>A	c.(3139-3141)caG>caA	p.Q1047Q	OTUD4_ENST00000447906.2_Silent_p.Q1112Q|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1111							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATCAAGTGTGCTGTCCCCTAT	0.433													14	138	---	---	---	---	0	0
NR3C2	0	broad.mit.edu	37	4	149002640	149002640	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:149002640T>A	ENST00000355292.3	-	9	3184	c.2822A>T	c.(2821-2823)gAc>gTc	p.D941V	NR3C2_ENST00000344721.4_Missense_Mutation_p.D937V|NR3C2_ENST00000358102.3_Missense_Mutation_p.D937V|NR3C2_ENST00000511528.1_Missense_Mutation_p.D941V|NR3C2_ENST00000512865.1_Missense_Mutation_p.D820V			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	937	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTCCAGCAGGTCGCTCACCAG	0.572													17	29	---	---	---	---	0	0
SH3D19	152503	broad.mit.edu	37	4	152053535	152053535	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:152053535C>T	ENST00000409598.4	-	17	3017	c.1850G>A	c.(1849-1851)aGc>aAc	p.S617N	SH3D19_ENST00000304527.4_Splice_Site_p.S640N|SH3D19_ENST00000424281.1_Splice_Site_p.S581N|SH3D19_ENST00000409252.2_Splice_Site_p.S640N|SH3D19_ENST00000455740.1_Splice_Site_p.S617N|SH3D19_ENST00000514152.1_Splice_Site_p.S617N|SH3D19_ENST00000427414.2_Splice_Site_p.S581N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	640	SH3 3.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TACCTTTGTGCCTACATTAAA	0.408													3	25	---	---	---	---	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422012	1422012	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:1422012C>A	ENST00000270349.9	-	5	898	c.771G>T	c.(769-771)aaG>aaT	p.K257N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	257					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCTTCACGCCCTTCCAGAGGC	0.637													15	56	---	---	---	---	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64629882	64629882	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:64629882G>T	ENST00000536360.1	-	8	1917	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	368	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGTTCCACAGGGCTTATTTT	0.264													10	26	---	---	---	---	0	0
ENC1	8507	broad.mit.edu	37	5	73931034	73931034	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:73931034A>G	ENST00000302351.4	-	2	2407	c.1277T>C	c.(1276-1278)aTg>aCg	p.M426T	ENC1_ENST00000537006.1_Missense_Mutation_p.M426T|ENC1_ENST00000510316.1_Missense_Mutation_p.M353T	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	426					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGGGCCACCATGGTCCATTT	0.552													20	45	---	---	---	---	0	0
P4HA2	8974	broad.mit.edu	37	5	131544898	131544898	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:131544898C>A	ENST00000401867.1	-	8	1404	c.836G>T	c.(835-837)aGg>aTg	p.R279M	P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	279						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GTCCACAGGCCTCTCATAGAT	0.512													7	127	---	---	---	---	0	0
PCDHA2	0	broad.mit.edu	37	5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672													7	62	---	---	---	---	0	0
PCDHA12	0	broad.mit.edu	37	5	140256668	140256668	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140256668G>A	ENST00000398631.2	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCCG	0.687													50	97	---	---	---	---	0	0
DUSP1	1843	broad.mit.edu	37	5	172195842	172195842	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:172195842C>T	ENST00000239223.3	-	4	1269	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	343	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GGGATGGAGACGGGGAAGTTG	0.642													7	60	---	---	---	---	0	0
DHX16	8449	broad.mit.edu	37	6	30630690	30630690	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:30630690C>T	ENST00000376442.3	-	8	1621	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	476	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AATCTCACCTCATTCCCAAGC	0.587													10	34	---	---	---	---	0	0
USP45	85015	broad.mit.edu	37	6	99885247	99885247	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:99885247T>C	ENST00000327681.6	-	17	2721	c.2189A>G	c.(2188-2190)tAc>tGc	p.Y730C	USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C|USP45_ENST00000392738.2_Missense_Mutation_p.Y410C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	730					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATAGAGACCGTAGAGAACTTT	0.363													15	19	---	---	---	---	0	0
LAMA4	3910	broad.mit.edu	37	6	112463376	112463376	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:112463376C>A	ENST00000230538.7	-	20	3009	c.2612G>T	c.(2611-2613)cGg>cTg	p.R871L	LAMA4_ENST00000389463.4_Missense_Mutation_p.R864L|LAMA4_ENST00000424408.2_Missense_Mutation_p.R864L|LAMA4_ENST00000522006.1_Missense_Mutation_p.R864L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	871	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTCCGGCCGCTTCACAGG	0.473													17	38	---	---	---	---	0	0
SOGA3	387104	broad.mit.edu	37	6	127796901	127796901	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:127796901G>A	ENST00000556132.1	-	6	3134	c.2270C>T	c.(2269-2271)gCg>gTg	p.A757V	SOGA3_ENST00000525778.1_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	757						integral to membrane											CTTCTTGCCCGCGTCGCTCTC	0.697													7	40	---	---	---	---	0	0
CNKSR3	154043	broad.mit.edu	37	6	154727613	154727613	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:154727613C>T	ENST00000607772.1	-	13	2087	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	CNKSR3_ENST00000479339.1_Missense_Mutation_p.A435T|CNKSR3_ENST00000433165.2_Missense_Mutation_p.A340T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	515	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGAATCGTGGCGCTGCTGTGG	0.572													4	60	---	---	---	---	0	0
C6orf118	168090	broad.mit.edu	37	6	165715064	165715064	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:165715064C>T	ENST00000543069.1	-	2	1016	c.435G>A	c.(433-435)ctG>ctA	p.L145L	C6orf118_ENST00000230301.8_Silent_p.L249L			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	249										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCACCTGCTGCAGCTTTCTCT	0.607													7	83	---	---	---	---	0	0
MIOS	54468	broad.mit.edu	37	7	7645694	7645694	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:7645694T>C	ENST00000340080.4	+	12	2944	c.2523T>C	c.(2521-2523)agT>agC	p.S841S	MIOS_ENST00000405785.1_Silent_p.S841S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	841										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATATGCTTAGTTGGTTCAGGT	0.388													47	89	---	---	---	---	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066568	18066568	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:18066568T>C	ENST00000506618.2	-	1	918	c.838A>G	c.(838-840)Aag>Gag	p.K280E		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	280					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGCTTCATCTTCTCATCTTGA	0.428													46	79	---	---	---	---	0	0
STK31	56164	broad.mit.edu	37	7	23826531	23826531	+	Silent	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:23826531T>A	ENST00000354639.3	+	20	2870	c.2406T>A	c.(2404-2406)ccT>ccA	p.P802P	STK31_ENST00000355870.3_Silent_p.P825P|STK31_ENST00000433467.2_Silent_p.P825P|STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAACATGCCTTTAAATTCAG	0.363													7	89	---	---	---	---	0	0
C7orf57	136288	broad.mit.edu	37	7	48081003	48081003	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:48081003G>T	ENST00000348904.3	+	3	340	c.128G>T	c.(127-129)gGt>gTt	p.G43V	C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.G88V|C7orf57_ENST00000420324.1_Missense_Mutation_p.G88V|C7orf57_ENST00000539619.1_Missense_Mutation_p.G43V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	43										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGATCCCAGGTCTCAGCAAT	0.537													10	27	---	---	---	---	0	0
FZD9	8326	broad.mit.edu	37	7	72849235	72849235	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:72849235G>A	ENST00000344575.3	+	1	1127	c.898G>A	c.(898-900)Gcg>Acg	p.A300T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	300					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGCGGGCGCGCTCTACGT	0.632													27	43	---	---	---	---	0	0
TFR2	7036	broad.mit.edu	37	7	100218565	100218565	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100218565C>T	ENST00000462107.1	-	19	2608	c.2321G>A	c.(2320-2322)cGt>cAt	p.R774H	TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H|TFR2_ENST00000544242.1_Missense_Mutation_p.R315H			Q9UP52	TFR2_HUMAN	transferrin receptor 2	774					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCTAGCTGACGCCGGAAACG	0.657													10	16	---	---	---	---	0	0
MUC3A	4584	broad.mit.edu	37	7	100607859	100607859	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100607859C>T	ENST00000319509.7	+	5	2006	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTCCAGAACGCCAGCCAGGAT	0.662													9	21	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100685313	100685313	+	Missense_Mutation	SNP	C	C	T	rs138135476		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100685313C>T	ENST00000306151.4	+	3	10680	c.10616C>T	c.(10615-10617)aCa>aTa	p.T3539I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3539	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCCTTTCAACAACTCCTGTT	0.483													19	386	---	---	---	---	0	0
C7orf60	154743	broad.mit.edu	37	7	112579785	112579785	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:112579785G>A	ENST00000297145.4	-	1	186	c.21C>T	c.(19-21)ggC>ggT	p.G7G		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	7										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAGTATTTCGGCCGCCGGCCC	0.726													6	9	---	---	---	---	0	0
GCC1	79571	broad.mit.edu	37	7	127223060	127223060	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:127223060C>T	ENST00000321407.2	-	2	1760	c.1336G>A	c.(1336-1338)Gcg>Acg	p.A446T	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	446						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCCTGGCCGCAACCTGCAGC	0.557													20	64	---	---	---	---	0	0
ZNF777	27153	broad.mit.edu	37	7	149133690	149133690	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:149133690G>A	ENST00000247930.4	-	5	1638	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	439	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTGCACCAGCATCTGCTTC	0.657													24	51	---	---	---	---	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174667	150174667	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:150174667T>G	ENST00000307271.3	+	5	2371	c.1797T>G	c.(1795-1797)tgT>tgG	p.C599W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	599						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGCGAGTTTGTGCTTTTAACA	0.473													27	55	---	---	---	---	0	0
SLC7A2	6542	broad.mit.edu	37	8	17400870	17400870	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:17400870C>T	ENST00000470360.1	+	4	259	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	SLC7A2_ENST00000004531.10_Silent_p.L48L|SLC7A2_ENST00000494857.1_Silent_p.L8L|SLC7A2_ENST00000398090.3_Silent_p.L48L|SLC7A2_ENST00000522656.1_Silent_p.L8L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	8					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAGCCGCGCTGACCTTTGC	0.522													14	13	---	---	---	---	0	0
UNC5D	137970	broad.mit.edu	37	8	35425622	35425622	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:35425622A>G	ENST00000287272.2	+	3	349	c.329A>G	c.(328-330)aAg>aGg	p.K110R	UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R|UNC5D_ENST00000404895.2_Missense_Mutation_p.K110R|UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	110	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAGGTTTGAAGGTCCGCGAA	0.463													11	131	---	---	---	---	0	0
POTEA	340441	broad.mit.edu	37	8	43147834	43147834	+	RNA	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:43147834C>G	ENST00000522175.2	+	0	209							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGCAAGCTCCACAGAGCTG	0.582													17	40	---	---	---	---	0	0
SPIDR	23514	broad.mit.edu	37	8	48625401	48625401	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:48625401A>C	ENST00000297423.4	+	15	2539	c.2155A>C	c.(2155-2157)Agc>Cgc	p.S719R	SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair																		TGCCCCTCACAGCCTCTTCTT	0.607													17	46	---	---	---	---	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577666	67577666	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:67577666A>G	ENST00000310421.4	-	1	1786	c.1528T>C	c.(1528-1530)Ttt>Ctt	p.F510L		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	510					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCAAGGGAAAGCTGTAATTT	0.423													65	147	---	---	---	---	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367308	105367308	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:105367308C>T	ENST00000297581.2	+	3	1282	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	411					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.S411R(1)									TCTACCCCAGCGTGGAGAGGA	0.438													27	44	---	---	---	---	0	0
FAM135B	51059	broad.mit.edu	37	8	139164500	139164500	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:139164500G>A	ENST00000395297.1	-	13	2388	c.2218C>T	c.(2218-2220)Cca>Tca	p.P740S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	740										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGCCGCTTGGCAAACTTGTG	0.522										HNSCC(54;0.14)			11	31	---	---	---	---	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145722826	145722826	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:145722826C>T	ENST00000292539.4	+	2	1166	c.249C>T	c.(247-249)gaC>gaT	p.D83D	CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	83						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCGAAATGACCTGGAAGAAG	0.662													5	22	---	---	---	---	0	0
COL27A1	85301	broad.mit.edu	37	9	117072950	117072950	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117072950A>G	ENST00000356083.3	+	61	5949	c.5558A>G	c.(5557-5559)gAa>gGa	p.E1853G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1853	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TACCGCCTGGAAGTTGGACCT	0.607													11	29	---	---	---	---	0	0
AKNA	80709	broad.mit.edu	37	9	117129977	117129977	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117129977C>A	ENST00000307564.4	-	6	1735	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	AKNA_ENST00000374088.3_Splice_Site_p.G525V|AKNA_ENST00000374075.5_Splice_Site_p.G444V|AKNA_ENST00000312033.3_Splice_Site_p.G525V|AKNA_ENST00000223791.3_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGATGGCCACCCTGGAATACA	0.582													18	17	---	---	---	---	0	0
DBH	1621	broad.mit.edu	37	9	136501639	136501639	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:136501639A>G	ENST00000393056.2	+	1	158	c.146A>G	c.(145-147)tAt>tGt	p.Y49C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	49					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCCCTCCCCTATCACATCCCC	0.642													4	29	---	---	---	---	0	0
USP6NL	9712	broad.mit.edu	37	10	11505706	11505706	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:11505706C>T	ENST00000609104.1	-	15	1615	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	USP6NL_ENST00000277575.5_Silent_p.A424A|USP6NL_ENST00000379237.2_Silent_p.A430A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like							intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGTGGGGCGCCCCGCTCT	0.692													7	25	---	---	---	---	0	0
FAM171A1	221061	broad.mit.edu	37	10	15254959	15254959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:15254959C>T	ENST00000378116.4	-	8	2634	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	876						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCGTTTCTGCCAGGGGCTTT	0.512													32	72	---	---	---	---	0	0
DDX50	79009	broad.mit.edu	37	10	70679687	70679687	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:70679687G>A	ENST00000373585.3	+	8	1296	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	397	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TATTTTCTGTGAGACCAAGAA	0.413													16	71	---	---	---	---	0	0
PIPSL	0	broad.mit.edu	37	10	95721253	95721253	+	RNA	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:95721253G>A	ENST00000480546.1	-	0	44					NR_002319.2																						GGAGGCCGACGCCATCTTGGC	0.572													6	90	---	---	---	---	0	0
CWF19L1	55280	broad.mit.edu	37	10	101995439	101995439	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:101995439G>T	ENST00000354105.4	-	13	1543	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	486							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AAACTGCAAAGGAAAATTCTT	0.363													5	23	---	---	---	---	0	0
SEMA4G	57715	broad.mit.edu	37	10	102737391	102737391	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:102737391G>A	ENST00000210633.3	+	4	417	c.339G>A	c.(337-339)acG>acA	p.T113T	SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000370250.4_Silent_p.T113T|SEMA4G_ENST00000517724.1_Silent_p.T113T			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	113	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCCCACAGACGGAGTGCTTTA	0.572													29	56	---	---	---	---	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133976844	133976844	+	Silent	SNP	C	C	A	rs143722443		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:133976844C>A	ENST00000298622.4	+	19	2484	c.2346C>A	c.(2344-2346)gtC>gtA	p.V782V	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGCGCCAGGTCATGAGTGAGC	0.687													3	9	---	---	---	---	0	0
AC129929.5	0	broad.mit.edu	37	11	2356903	2356903	+	RNA	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:2356903C>T	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							GATCTTCCTGCGCACGTGTGA	0.562													28	98	---	---	---	---	0	0
CARS	833	broad.mit.edu	37	11	3028112	3028112	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:3028112C>T	ENST00000397114.3	-	19	2243	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.E633K|CARS_ENST00000401769.3_Missense_Mutation_p.E646K|CARS_ENST00000380525.4_Missense_Mutation_p.E716K|CARS_ENST00000397111.5_Missense_Mutation_p.E633K			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	633					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CACCCACCTTCGTGGTCTTCA	0.582			T	ALK	ALCL								7	136	---	---	---	---	0	0
DNHD1	144132	broad.mit.edu	37	11	6592024	6592024	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:6592024T>A	ENST00000254579.6	+	42	13846	c.13282T>A	c.(13282-13284)Tct>Act	p.S4428T	DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4428					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGTTCCTGAGTCTCGAAGAGG	0.637													12	18	---	---	---	---	0	0
COPB1	1315	broad.mit.edu	37	11	14491076	14491076	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:14491076T>C	ENST00000249923.3	-	15	2071	c.1771A>G	c.(1771-1773)Act>Gct	p.T591A	COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	591					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGCAGGATAGTAGCCATGAGC	0.398													5	52	---	---	---	---	0	0
ABCC8	6833	broad.mit.edu	37	11	17428224	17428224	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:17428224C>T	ENST00000302539.4	-	26	3402	c.3277G>A	c.(3277-3279)Gtg>Atg	p.V1093M	ABCC8_ENST00000389817.3_Missense_Mutation_p.V1092M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1092	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTCTTGGCCACCTTCAGCCCT	0.607													13	38	---	---	---	---	0	0
KCNC1	3746	broad.mit.edu	37	11	17793341	17793341	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:17793341C>T	ENST00000379472.3	+	2	730	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	234						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R234C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CACGCAAGTGCGCTACTACCG	0.582													23	83	---	---	---	---	0	0
DAGLA	747	broad.mit.edu	37	11	61495643	61495643	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:61495643G>A	ENST00000257215.5	+	7	771	c.655G>A	c.(655-657)Gcc>Acc	p.A219T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	219					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCAGAAATCGCCTACCTCTT	0.617													5	77	---	---	---	---	0	0
LTBP3	4054	broad.mit.edu	37	11	65307998	65307998	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65307998T>C	ENST00000301873.5	-	22	3333	c.3065A>G	c.(3064-3066)aAg>aGg	p.K1022R	LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1022	EGF-like 10; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GAAGCCCTGCTTGCAGTAGCA	0.652											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	39	---	---	---	---	0	0
MTL5	9633	broad.mit.edu	37	11	68506190	68506190	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:68506190G>A	ENST00000255087.5	-	6	1078	c.895C>T	c.(895-897)Cca>Tca	p.P299S	MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.P299S|MTL5_ENST00000540869.1_5'UTR	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	299					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ATTTTTGGTGGTCCTGGAAGA	0.413													4	37	---	---	---	---	0	0
SHANK2	22941	broad.mit.edu	37	11	70331617	70331617	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:70331617G>A	ENST00000338508.4	-	32	4783	c.4784C>T	c.(4783-4785)gCc>gTc	p.A1595V	SHANK2_ENST00000423696.2_Missense_Mutation_p.A1215V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1215					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGAACCTTGGCCATCCCAGG	0.577													4	55	---	---	---	---	0	0
NPAT	4863	broad.mit.edu	37	11	108068119	108068119	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:108068119A>G	ENST00000278612.8	-	2	171	c.66T>C	c.(64-66)tcT>tcC	p.S22S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	22	Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.			S -> Y (in Ref. 6; AAB02735).	positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTGGCAGGTAGAAATGAGGT	0.308													12	65	---	---	---	---	0	0
KMT2A	4297	broad.mit.edu	37	11	118343381	118343381	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:118343381C>T	ENST00000534358.1	+	3	1530	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	KMT2A_ENST00000389506.5_Missense_Mutation_p.R503W|KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCCTGAGGAGCGGAGCGATAC	0.502													22	103	---	---	---	---	0	0
VWF	7450	broad.mit.edu	37	12	6135163	6135163	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:6135163T>A	ENST00000261405.5	-	23	3271	c.3017A>T	c.(3016-3018)gAc>gTc	p.D1006V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1006	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTGGTGAGGTCATTGTTCTG	0.527													15	47	---	---	---	---	0	0
ADCY6	112	broad.mit.edu	37	12	49169815	49169815	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:49169815C>T	ENST00000307885.4	-	8	2431	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G	ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000550422.1_Silent_p.G579G|ADCY6_ENST00000552090.1_5'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	579					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCGGCATCAGCCCTTCCATGG	0.647													8	13	---	---	---	---	0	0
ESYT1	23344	broad.mit.edu	37	12	56532267	56532267	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56532267G>A	ENST00000394048.5	+	22	2681	c.2417G>A	c.(2416-2418)cGg>cAg	p.R806Q	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	806	C2 4.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TATATGGAGCGGGCAGAGGAC	0.587													4	21	---	---	---	---	0	0
CNPY2	10330	broad.mit.edu	37	12	56705008	56705008	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56705008G>T	ENST00000273308.4	-	4	935	c.395C>A	c.(394-396)aCc>aAc	p.T132N	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	132	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						AAACTTGAGGGTGCCGCTAAT	0.493													51	90	---	---	---	---	0	0
SLC16A7	9194	broad.mit.edu	37	12	60098741	60098741	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:60098741T>C	ENST00000261187.4	+	2	323	c.159T>C	c.(157-159)acT>acC	p.T53T	SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000549465.1_Silent_p.T53T|SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000552432.1_Silent_p.T53T|SLC16A7_ENST00000547379.1_Silent_p.T53T	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	53						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TATTCCACACTACCTACAGTG	0.383													24	46	---	---	---	---	0	0
HCFC2	29915	broad.mit.edu	37	12	104474531	104474531	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:104474531G>C	ENST00000229330.4	+	5	794	c.690G>C	c.(688-690)atG>atC	p.M230I		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	230					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAGAAACTATGTCATGGTCAA	0.323													15	17	---	---	---	---	0	0
PLBD2	196463	broad.mit.edu	37	12	113810526	113810526	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:113810526G>A	ENST00000280800.3	+	3	488	c.457G>A	c.(457-459)Gag>Aag	p.E153K	PLBD2_ENST00000545182.2_Missense_Mutation_p.E153K	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	153					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGGCTACTGCGAGAGGCTGAA	0.572													32	72	---	---	---	---	0	0
MSI1	4440	broad.mit.edu	37	12	120791157	120791157	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:120791157G>T	ENST00000257552.2	-	10	766	c.678C>A	c.(676-678)acC>acA	p.T226T	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	226					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTGGCGTAGGTTGTGGCTT	0.597													17	51	---	---	---	---	0	0
EIF2B1	1967	broad.mit.edu	37	12	124106408	124106408	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:124106408C>T	ENST00000424014.2	-	9	1021	c.813G>A	c.(811-813)ccG>ccA	p.P271P	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	271					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGTCGACCCACGGATGCTCCT	0.512													4	22	---	---	---	---	0	0
SFSWAP	6433	broad.mit.edu	37	12	132212946	132212946	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:132212946C>T	ENST00000261674.4	+	7	1195	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P352S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	352					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GCCTGTGCAGCCCTCCCAGGT	0.587													23	25	---	---	---	---	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20235872	20235872	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:20235872C>T	ENST00000361479.5	+	8	1894	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	609					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATGCTTGCCGCCGCCGGAGGG	0.502													18	120	---	---	---	---	0	0
PABPC3	5042	broad.mit.edu	37	13	25672097	25672097	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:25672097A>G	ENST00000281589.3	+	1	1798	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	587	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATAATTCAGAACTTCTTTATA	0.448													6	109	---	---	---	---	0	0
FREM2	341640	broad.mit.edu	37	13	39261856	39261856	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:39261856G>A	ENST00000280481.7	+	1	591	c.375G>A	c.(373-375)aaG>aaA	p.K125K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	125					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAGTCCCAAGCGCTTCCCGT	0.697													3	2	---	---	---	---	0	0
PCID2	55795	broad.mit.edu	37	13	113849441	113849441	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:113849441T>C	ENST00000375457.2	-	6	899		c.e6-2		PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000375477.1_Splice_Site|PCID2_ENST00000337344.4_Splice_Site|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000246505.5_Splice_Site	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GGCAGAGCCCTGCAGGGCAAA	0.453													14	26	---	---	---	---	0	0
OR4E2	26686	broad.mit.edu	37	14	22133362	22133362	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:22133362G>A	ENST00000408935.1	+	1	66	c.66G>A	c.(64-66)gtG>gtA	p.V22V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ATAACCGGGTGCTGGAAATGC	0.418													37	69	---	---	---	---	0	0
REC8	9985	broad.mit.edu	37	14	24642164	24642164	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:24642164C>T	ENST00000311457.3	+	4	781	c.182C>T	c.(181-183)cCg>cTg	p.P61L	REC8_ENST00000559919.1_Missense_Mutation_p.P61L			O95072	REC8_HUMAN	REC8 meiotic recombination protein	61					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCGGCCTGCCGCGGCCCCGC	0.602													28	48	---	---	---	---	0	0
FOXG1	2290	broad.mit.edu	37	14	29237390	29237390	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:29237390G>A	ENST00000382535.3	+	2	1274	c.905G>A	c.(904-906)cGc>cAc	p.R302H	FOXG1_ENST00000313071.4_Missense_Mutation_p.R302H			P55316	FOXG1_HUMAN	forkhead box G1	302				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TTCATGGACCGCGCCGGCTCC	0.701													23	55	---	---	---	---	0	0
BAZ1A	11177	broad.mit.edu	37	14	35255348	35255348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:35255348C>T	ENST00000360310.1	-	13	2157	c.1590G>A	c.(1588-1590)tgG>tgA	p.W530*	BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.W530*|BAZ1A_ENST00000358716.4_Intron	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	530					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTAACTGTGGCCATGCAGCTG	0.358													5	27	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38061250	38061250	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:38061250G>A	ENST00000250448.2	-	2	800	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	247					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GAGTCCGGGTGCAGCGTCCAG	0.667													12	19	---	---	---	---	0	0
MDGA2	161357	broad.mit.edu	37	14	47504410	47504410	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:47504410T>C	ENST00000426342.1	-	8	1475	c.729A>G	c.(727-729)aaA>aaG	p.K243K	MDGA2_ENST00000439988.3_Silent_p.K541K|MDGA2_ENST00000399232.2_Silent_p.K472K|MDGA2_ENST00000357362.3_Silent_p.K243K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	472	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGATGATTGGTTTAGGTTTGC	0.418													6	121	---	---	---	---	0	0
KLHDC1	122773	broad.mit.edu	37	14	50176534	50176534	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:50176534A>G	ENST00000359332.2	+	3	365	c.275A>G	c.(274-276)tAc>tGc	p.Y92C		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	92						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GACAAAGGATACAGCAATCGA	0.358													12	32	---	---	---	---	0	0
ALKBH1	8846	broad.mit.edu	37	14	78140481	78140481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:78140481T>C	ENST00000216489.3	-	6	859	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	282	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAGAGGCGGCTGAAACCCGAC	0.577													11	22	---	---	---	---	0	0
C15orf56	644809	broad.mit.edu	37	15	40544701	40544701	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:40544701C>T	ENST00000319503.3	-	2	292	c.271G>A	c.(271-273)Gcg>Acg	p.A91T	C15orf56_ENST00000559727.1_3'UTR|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000260404.4_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	91										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		ACTTCTCCCGCGCTCTGGGTT	0.662													5	14	---	---	---	---	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622631	65622631	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:65622631C>A	ENST00000327987.4	-	11	2109	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	620										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCCTCACCTGTCCTCTCA	0.567													9	78	---	---	---	---	0	0
ARID3B	10620	broad.mit.edu	37	15	74883589	74883589	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:74883589C>T	ENST00000346246.5	+	6	1210	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	327	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGGGAGGGCCGGCGGCCCAG	0.612													28	96	---	---	---	---	0	0
CPEB1	64506	broad.mit.edu	37	15	83221233	83221233	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:83221233C>A	ENST00000563800.1	-	8	3003	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.K399N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K173N|CPEB1_ENST00000564522.1_Missense_Mutation_p.K324N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K402N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K324N|CPEB1_ENST00000562019.1_Missense_Mutation_p.K404N|CPEB1_ENST00000568757.1_Missense_Mutation_p.K324N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R134M|CPEB1_ENST00000398591.2_Missense_Mutation_p.K329N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K324N			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	404	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AACTCACCTCCTTGCAGCGCA	0.522													7	27	---	---	---	---	0	0
PKD1	5310	broad.mit.edu	37	16	2143019	2143019	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:2143019C>T	ENST00000262304.4	-	38	11300	c.11092G>A	c.(11092-11094)Gcc>Acc	p.A3698T	PKD1_ENST00000423118.1_Missense_Mutation_p.A3697T|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3698					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGACGGTAGGCGTGCCCATGG	0.642													11	73	---	---	---	---	0	0
THOC6	79228	broad.mit.edu	37	16	3076395	3076395	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:3076395C>A	ENST00000326266.8	+	6	688	c.392C>A	c.(391-393)gCt>gAt	p.A131D	THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	131					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GAGATCAACGCTTTGCTGCTG	0.542													20	23	---	---	---	---	0	0
DNAH3	55567	broad.mit.edu	37	16	21053359	21053359	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:21053359T>C	ENST00000261383.3	-	32	4627	c.4628A>G	c.(4627-4629)gAc>gGc	p.D1543G	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1543G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1543	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGAGATTGTCGGGCAGTTC	0.517													20	48	---	---	---	---	0	0
IL4R	3566	broad.mit.edu	37	16	27372111	27372111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:27372111C>T	ENST00000395762.2	+	10	1133	c.874C>T	c.(874-876)Cga>Tga	p.R292*	IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	292					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAAGCGGTCCCGAGGCCAGGA	0.557													28	65	---	---	---	---	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485718	31485718	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:31485718C>T	ENST00000394863.3	+	6	591	c.461C>T	c.(460-462)gCc>gTc	p.A154V	TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	154	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCCACCTCAGCCACTCTGGAG	0.577													4	58	---	---	---	---	0	0
CDH5	1003	broad.mit.edu	37	16	66413286	66413286	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:66413286G>A	ENST00000341529.3	+	2	194	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	16					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGCCTGCCTGGGCCTGCTGGC	0.627													23	59	---	---	---	---	0	0
CMTM1	113540	broad.mit.edu	37	16	66600560	66600560	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:66600560C>T	ENST00000379500.2	+	1	211	c.144C>T	c.(142-144)acC>acT	p.T48T	CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Silent_p.T48T	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	0	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CAGCGAAGACCGCACCCCGGA	0.632													5	55	---	---	---	---	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622													22	28	---	---	---	---	0	0
CENPT	80152	broad.mit.edu	37	16	67865241	67865241	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67865241G>A	ENST00000562787.1	-	10	1129	c.581C>T	c.(580-582)gCc>gTc	p.A194V	CENPT_ENST00000219172.3_Missense_Mutation_p.A194V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	194					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AAGAGGTGTGGCAAAGGTCAG	0.617													17	28	---	---	---	---	0	0
CDH1	999	broad.mit.edu	37	16	68844157	68844157	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:68844157T>G	ENST00000261769.5	+	6	936	c.745T>G	c.(745-747)Ttg>Gtg	p.L249V	CDH1_ENST00000422392.2_Missense_Mutation_p.L249V|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	249	Cadherin 1.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(4)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATGGAGATTTTGATCACGGT	0.483			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				38	82	---	---	---	---	0	0
TERF2	7014	broad.mit.edu	37	16	69400909	69400909	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:69400909A>G	ENST00000254942.3	-	7	1157	c.1141T>C	c.(1141-1143)Tca>Cca	p.S381P	TERF2_ENST00000603068.1_Missense_Mutation_p.S339P	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	339					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCCGGGGCTGAACTTTCGTTT	0.517													19	31	---	---	---	---	0	0
HYDIN	54768	broad.mit.edu	37	16	70934964	70934964	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:70934964C>T	ENST00000393567.2	-	53	9141	c.8991G>A	c.(8989-8991)ctG>ctA	p.L2997L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2997										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTACAGGTGCAGGCCGTACT	0.547													18	88	---	---	---	---	0	0
AC010547.9	0	broad.mit.edu	37	16	71516014	71516014	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:71516014C>T	ENST00000561908.1	-	3	506	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000288177.5_Missense_Mutation_p.A2T|ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T																							GGCATGGCTGCCATGACCTGG	0.493													10	11	---	---	---	---	0	0
KLHL36	79786	broad.mit.edu	37	16	84690912	84690912	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84690912A>G	ENST00000564996.1	+	3	640	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	167	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGATGCCTTCATCGATGGCTT	0.567													8	49	---	---	---	---	0	0
SCARF1	8578	broad.mit.edu	37	17	1543259	1543259	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:1543259G>T	ENST00000263071.4	-	6	1135	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S	SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	362	EGF-like 6.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGTATCACAGGACCCCTGAA	0.642													7	35	---	---	---	---	0	0
OR3A1	4994	broad.mit.edu	37	17	3195143	3195143	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:3195143C>T	ENST00000323404.1	-	1	733	c.734G>A	c.(733-735)gGc>gAc	p.G245D	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGGTGGGAGCCACATGTGGA	0.493													23	53	---	---	---	---	0	0
NEURL4	84461	broad.mit.edu	37	17	7224437	7224437	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:7224437G>A	ENST00000399464.2	-	20	3369	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	NEURL4_ENST00000570460.1_Silent_p.G1094G|NEURL4_ENST00000315614.7_Silent_p.G1116G	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTACTCCCAGGCCATGCTCCT	0.612													4	45	---	---	---	---	0	0
MYH2	4620	broad.mit.edu	37	17	10448739	10448739	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:10448739G>A	ENST00000245503.5	-	5	813	c.429C>T	c.(427-429)taC>taT	p.Y143Y	MYH2_ENST00000397183.2_Silent_p.Y143Y|MYH2_ENST00000532183.2_Silent_p.Y143Y|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	143	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTTGCCTCGGTAGGCTGTCA	0.522													43	88	---	---	---	---	0	0
ZNF286A	57335	broad.mit.edu	37	17	15619621	15619621	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:15619621T>G	ENST00000464847.2	+	5	1136	c.583T>G	c.(583-585)Tgg>Ggg	p.W195G	ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000413242.2_Missense_Mutation_p.W195G|ZNF286A_ENST00000593105.1_Missense_Mutation_p.W185G|ZNF286A_ENST00000472486.1_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TGATGTATACTGGAAAAGCTT	0.378													4	60	---	---	---	---	0	0
KSR1	8844	broad.mit.edu	37	17	25944348	25944348	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:25944348G>A	ENST00000398988.3	+	21	2621	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	KSR1_ENST00000509603.2_Missense_Mutation_p.D841N|KSR1_ENST00000319524.6_Missense_Mutation_p.D863N|KSR1_ENST00000268763.6_Missense_Mutation_p.D726N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	861	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTGGGCTTTCGACCTGCAGGA	0.607													4	17	---	---	---	---	0	0
RFFL	117584	broad.mit.edu	37	17	33344575	33344575	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:33344575G>A	ENST00000315249.7	-	4	864	c.642C>T	c.(640-642)agC>agT	p.S214S	RFFL_ENST00000413582.2_Silent_p.S214S|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000584655.1_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000447669.2_Silent_p.S214S|RFFL_ENST00000394597.2_Silent_p.S214S			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	214					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTGGCCACGCTCTCCAGGT	0.527													4	7	---	---	---	---	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43515294	43515294	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:43515294G>A	ENST00000430334.3	-	12	3234	c.3101C>T	c.(3100-3102)gCt>gTt	p.A1034V	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	1034					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTTCACCACAGCCTGGCAGCT	0.647													4	22	---	---	---	---	0	0
COPZ2	51226	broad.mit.edu	37	17	46111238	46111238	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:46111238G>A	ENST00000006101.4	-	4	252	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	87					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						CTCTCAGTCCGGCTGGTCTTG	0.483													3	13	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47677762	47677762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:47677762C>T	ENST00000393331.3	-	12	1573	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H|SPOP_ENST00000393328.2_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	368					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGGCGTTTGCGTGGGGGTCC	0.542										Prostate(2;0.17)			10	162	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:47696426A>C	ENST00000393331.3	-	7	867	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			35	68	---	---	---	---	0	0
POLG2	11232	broad.mit.edu	37	17	62492847	62492847	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:62492847A>G	ENST00000539111.2	-	1	307	c.240T>C	c.(238-240)agT>agC	p.S80S		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	80					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCTTGCTTCCACTTAGGAAAT	0.612													22	62	---	---	---	---	0	0
ATP5H	10476	broad.mit.edu	37	17	73035039	73035039	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:73035039A>G	ENST00000301587.4	-	6	521	c.474T>C	c.(472-474)atT>atC	p.I158I	ATP5H_ENST00000344546.4_Silent_p.I134I|KCTD2_ENST00000581589.1_Intron|KCTD2_ENST00000584767.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	158					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					ATAAATTCTCAATTGGTTGGT	0.368													17	42	---	---	---	---	0	0
EVPL	2125	broad.mit.edu	37	17	74013981	74013981	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:74013981A>C	ENST00000301607.3	-	14	1802	c.1549T>G	c.(1549-1551)Tca>Gca	p.S517A	EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	517	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCAGGTCTGAGCCAGATGGA	0.657													10	19	---	---	---	---	0	0
RHBDF2	79651	broad.mit.edu	37	17	74467835	74467835	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:74467835G>A	ENST00000591885.1	-	19	2914	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	RHBDF2_ENST00000389760.4_Silent_p.A788A|RHBDF2_ENST00000313080.4_Silent_p.A817A			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	817					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCACGAGGGCGGCGAAGAGGC	0.612													3	8	---	---	---	---	0	0
DUS1L	64118	broad.mit.edu	37	17	80016030	80016030	+	Silent	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80016030T>G	ENST00000354321.7	-	13	1868	c.1383A>C	c.(1381-1383)ccA>ccC	p.P461P	DUS1L_ENST00000306796.5_Silent_p.P461P			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	461					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGAAGCCACCTGGTGTTCCAG	0.582													12	39	---	---	---	---	0	0
ZNF750	79755	broad.mit.edu	37	17	80788498	80788498	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80788498C>T	ENST00000269394.3	-	3	2525	c.1692G>A	c.(1690-1692)ccG>ccA	p.P564P	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	564						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCAGGCCTCGGAGCCTGGG	0.627													14	75	---	---	---	---	0	0
MYL12B	103910	broad.mit.edu	37	18	3272921	3272921	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:3272921A>G	ENST00000581193.1	+	2	408	c.25A>G	c.(25-27)Aag>Gag	p.K9E	MYL12B_ENST00000400175.5_Missense_Mutation_p.K9E|MYL12B_ENST00000584539.1_Missense_Mutation_p.K9E|MYL12B_ENST00000237500.5_Missense_Mutation_p.K9E	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	9					axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						GGCAAAGACCAAGACCACCAA	0.388													29	73	---	---	---	---	0	0
CABLES1	91768	broad.mit.edu	37	18	20768869	20768869	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:20768869C>T	ENST00000256925.7	+	2	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000400473.2_5'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	305	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCCCCTCTCCGGAGGTAATT	0.398													5	15	---	---	---	---	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29488975	29488975	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:29488975T>C	ENST00000283351.4	-	7	1201		c.e7-2		TRAPPC8_ENST00000582539.1_Splice_Site|TRAPPC8_ENST00000582513.1_Splice_Site	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8						ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAAGCCATCTACTGAAAAAG	0.358													11	30	---	---	---	---	0	0
CCDC178	374864	broad.mit.edu	37	18	30950099	30950099	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:30950099A>G	ENST00000383096.3	-	6	445	c.263T>C	c.(262-264)gTa>gCa	p.V88A	CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A					coiled-coil domain containing 178																		AATATTTACTACGGCACAGCT	0.378													14	38	---	---	---	---	0	0
SLC14A2	8170	broad.mit.edu	37	18	43248313	43248313	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:43248313G>A	ENST00000255226.6	+	15	2723		c.e15-1		SLC14A2_ENST00000589658.1_Splice_Site|SLC14A2_ENST00000586448.1_Splice_Site	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2							apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCCTGCCAGGTCGGCCATC	0.562													13	21	---	---	---	---	0	0
TMX3	54495	broad.mit.edu	37	18	66344197	66344197	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:66344197C>A	ENST00000299608.2	-	16	1654	c.1338G>T	c.(1336-1338)aaG>aaT	p.K446N		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	446					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CTAATACATCCTTGGGCTCCT	0.353													7	74	---	---	---	---	0	0
CIRBP	1153	broad.mit.edu	37	19	1271165	1271165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1271165C>T	ENST00000589710.1	+	3	277	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000444172.2_Intron|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586773.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588030.1_Nonsense_Mutation_p.Q44*			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	44	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGAGACCCAGAGATCTCG	0.567													19	43	---	---	---	---	0	0
DOT1L	84444	broad.mit.edu	37	19	2222180	2222180	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:2222180C>T	ENST00000398665.3	+	24	3048	c.3012C>T	c.(3010-3012)caC>caT	p.H1004H		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1004						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCCCACCAGCTCTCCT	0.701													12	16	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9058758	9058758	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:9058758G>C	ENST00000397910.4	-	3	28891	c.28688C>G	c.(28687-28689)aCa>aGa	p.T9563R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9565	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAGGCATTGTTGTGGAAAC	0.493													31	34	---	---	---	---	0	0
ZNF44	51710	broad.mit.edu	37	19	12383898	12383898	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:12383898C>T	ENST00000356109.5	-	5	1434	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TTTATGAGGGCCATCTCCAGT	0.428													31	68	---	---	---	---	0	0
CD97	976	broad.mit.edu	37	19	14517970	14517970	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14517970T>C	ENST00000242786.5	+	18	2385	c.2305T>C	c.(2305-2307)Tat>Cat	p.Y769H	CD97_ENST00000358600.3_Missense_Mutation_p.Y676H|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.Y720H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	769					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGTGCTGACCTATGTGTTTAC	0.617													9	86	---	---	---	---	0	0
GMIP	51291	broad.mit.edu	37	19	19748735	19748735	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:19748735C>A	ENST00000203556.4	-	10	1058	c.921G>T	c.(919-921)ctG>ctT	p.L307L	GMIP_ENST00000587238.1_Silent_p.L307L|GMIP_ENST00000445806.2_Silent_p.L307L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	307					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACCCGCCTCAGCACTTCAT	0.672													8	15	---	---	---	---	0	0
GPATCH1	55094	broad.mit.edu	37	19	33608948	33608948	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:33608948G>A	ENST00000170564.2	+	16	2727		c.e16+1			NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1							catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTGGCTCACGGTATGTCAGTA	0.478													7	20	---	---	---	---	0	0
LMTK3	114783	broad.mit.edu	37	19	49012151	49012151	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49012151G>T	ENST00000600059.1	-	5	741	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGCTCCAGGGGCCCCGCGCTG	0.597													19	32	---	---	---	---	0	0
TRPM4	54795	broad.mit.edu	37	19	49714069	49714069	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49714069A>G	ENST00000252826.5	+	22	3557	c.3431A>G	c.(3430-3432)gAc>gGc	p.D1144G	TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G|TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1144	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGGGAGAGCGACTCCGAGCGT	0.612													3	14	---	---	---	---	0	0
AP2A1	160	broad.mit.edu	37	19	50302915	50302915	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:50302915G>T	ENST00000354293.5	+	10	1330	c.1164G>T	c.(1162-1164)cgG>cgT	p.R388R	AP2A1_ENST00000359032.5_Silent_p.R388R	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	388					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCGGCAGCGGGCGGCTGACC	0.652													5	56	---	---	---	---	0	0
ADRA1D	146	broad.mit.edu	37	20	4202253	4202253	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:4202253C>T	ENST00000379453.4	-	2	1752	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	546				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TCGTGTGGGACGCCTAGGGAC	0.667													3	23	---	---	---	---	0	0
KIF16B	55614	broad.mit.edu	37	20	16359674	16359674	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:16359674C>A	ENST00000354981.2	-	19	3130	c.2973G>T	c.(2971-2973)aaG>aaT	p.K991N	KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N|KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	991	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCAAAATCTCCTTTTCCTTTT	0.547													31	78	---	---	---	---	0	0
NANP	140838	broad.mit.edu	37	20	25596622	25596622	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:25596622G>A	ENST00000304788.3	-	2	912	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	229					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						CTCTAGCACAGAAGAAACCAT	0.408													14	63	---	---	---	---	0	0
MTG2	26164	broad.mit.edu	37	20	60773005	60773005	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:60773005C>T	ENST00000370823.3	+	4	468	c.450C>T	c.(448-450)ggC>ggT	p.G150G	MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		GGCGCAGTGGCGCCGTCCTCT	0.622													12	35	---	---	---	---	0	0
MED15	51586	broad.mit.edu	37	22	20939447	20939447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:20939447C>T	ENST00000263205.7	+	16	2093	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000541476.1_Missense_Mutation_p.P609L|MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000382974.2_Missense_Mutation_p.P564L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L|MED15_ENST00000542773.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	675					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGAGCATCCCCAGTGTGCTC	0.642													19	27	---	---	---	---	0	0
MTMR3	8897	broad.mit.edu	37	22	30416462	30416462	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30416462C>A	ENST00000333027.3	+	17	3142	c.2814C>A	c.(2812-2814)gcC>gcA	p.A938A	CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Silent_p.A802A|MTMR3_ENST00000401950.2_Silent_p.A938A|MTMR3_ENST00000351488.3_Silent_p.A938A|MTMR3_ENST00000406629.1_Silent_p.A938A|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	938					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAAACAGGGCCTCAGAGCAGC	0.587													20	47	---	---	---	---	0	0
RNF215	200312	broad.mit.edu	37	22	30776081	30776081	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30776081C>T	ENST00000382363.3	-	7	1052	c.978G>A	c.(976-978)gcG>gcA	p.A326A		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	326						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCAGGCACACCGCACAGGTCT	0.647													5	72	---	---	---	---	0	0
RNF215	200312	broad.mit.edu	37	22	30776149	30776149	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30776149T>C	ENST00000382363.3	-	7	984	c.910A>G	c.(910-912)Aag>Gag	p.K304E		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	304						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CGCCGTGTCTTGAGGGATGCC	0.657													10	65	---	---	---	---	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951602	30951602	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30951602A>G	ENST00000402321.1	-	3	927	c.610T>C	c.(610-612)Tac>Cac	p.Y204H	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	204					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TTGGGGTCGTAGTAGCGATCC	0.627													6	67	---	---	---	---	0	0
IL2RB	0	broad.mit.edu	37	22	37524301	37524301	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:37524301C>T	ENST00000216223.5	-	10	1689	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	497					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACCTCCTCCCCAGCCTCTC	0.692													6	15	---	---	---	---	0	0
TAB1	10454	broad.mit.edu	37	22	39814776	39814776	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:39814776G>T	ENST00000216160.6	+	6	652	c.590G>T	c.(589-591)gGg>gTg	p.G197V	TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	197	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ACAGTGGATGGGTTGCAGGTG	0.527													12	39	---	---	---	---	0	0
WBP2NL	164684	broad.mit.edu	37	22	42423017	42423017	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:42423017C>A	ENST00000328823.9	+	6	793	c.762C>A	c.(760-762)gcC>gcA	p.A254A	WBP2NL_ENST00000543212.1_Silent_p.A180A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	254	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GATATGGAGCCCCACCTCTCG	0.597													9	187	---	---	---	---	0	0
RAB9A	9367	broad.mit.edu	37	X	13727114	13727114	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:13727114C>T	ENST00000464506.1	+	3	528	c.249C>T	c.(247-249)tgC>tgT	p.C83C	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	83					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGACTGCTGCCTGCTTACTT	0.438													15	80	---	---	---	---	0	0
GPR64	10149	broad.mit.edu	37	X	19037719	19037719	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:19037719C>T	ENST00000379878.3	-	14	901	c.660G>A	c.(658-660)caG>caA	p.Q220Q	GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379869.3_Silent_p.Q236Q|GPR64_ENST00000340581.3_Silent_p.Q206Q|GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000354791.3_Silent_p.Q220Q	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	236					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTACATACCACTGAAGCTTTT	0.398													8	15	---	---	---	---	0	0
PHF16	0	broad.mit.edu	37	X	46887491	46887491	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:46887491G>A	ENST00000218343.4	+	6	971	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		225					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TAAGTGTAACGTCTGTGTGCA	0.488													21	4	---	---	---	---	0	0
MAGED1	9500	broad.mit.edu	37	X	51639838	51639838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:51639838C>T	ENST00000375695.2	+	5	1408	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.P363S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	363	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATTGTCTGGCCCGGCCCTGT	0.617										Multiple Myeloma(10;0.10)			9	11	---	---	---	---	0	0
STARD8	9754	broad.mit.edu	37	X	67937675	67937675	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:67937675C>T	ENST00000252336.6	+	5	1051	c.679C>T	c.(679-681)Cca>Tca	p.P227S	STARD8_ENST00000374599.3_Missense_Mutation_p.P307S|STARD8_ENST00000374597.3_Missense_Mutation_p.P227S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	227					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGACCACAAACCAGGCACATT	0.647													3	11	---	---	---	---	0	0
TAF1	6872	broad.mit.edu	37	X	70613199	70613199	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70613199T>C	ENST00000449580.1	+	21	3148	c.3097T>C	c.(3097-3099)Tca>Cca	p.S1033P	TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P|TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P|TAF1_ENST00000373790.4_Missense_Mutation_p.S1033P			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1033					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCGCACAATGTCAACAGAACA	0.453													28	6	---	---	---	---	0	0
GPR112	139378	broad.mit.edu	37	X	135429592	135429592	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:135429592G>A	ENST00000394143.1	+	6	4018	c.3727G>A	c.(3727-3729)Gtg>Atg	p.V1243M	GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M|GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1243					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACACACACCAGTGTCCATCCA	0.458													7	72	---	---	---	---	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716669	142716669	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:142716669G>A	ENST00000381779.4	-	2	2481	c.2256C>T	c.(2254-2256)agC>agT	p.S752S	SLITRK4_ENST00000356928.1_Silent_p.S752S|SLITRK4_ENST00000338017.4_Silent_p.S752S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	752						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAATCCCTGCTAGGGAATA	0.383													17	63	---	---	---	---	0	0
AHDC1	27245	broad.mit.edu	37	1	27874814	27874814	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:27874814C>T	ENST00000374011.2	-	6	4781	c.3813G>A	c.(3811-3813)ccG>ccA	p.P1271P	AHDC1_ENST00000247087.5_Silent_p.P1271P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1271							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCCACCTCGCGGCTGCCGGG	0.677													29	105	---	---	---	---	0	0
CELSR2	1952	broad.mit.edu	37	1	109803759	109803759	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:109803759A>G	ENST00000271332.3	+	3	4115	c.4054A>G	c.(4054-4056)Aag>Gag	p.K1352E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1352	EGF-like 3; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGCGGTTTCAAGTGCGATTG	0.627													34	130	---	---	---	---	0	0
CSDE1	7812	broad.mit.edu	37	1	115262240	115262240	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:115262240G>A	ENST00000438362.2	-	18	2692	c.2314C>T	c.(2314-2316)Cgc>Tgc	p.R772C	CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000358528.4_Missense_Mutation_p.R726C	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	726					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCCAGTGCGCTGATTAAGA	0.453													7	101	---	---	---	---	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885314	180885314	+	Silent	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:180885314A>G	ENST00000367588.4	+	2	130	c.75A>G	c.(73-75)acA>acG	p.T25T		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	25										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGTGGAACAGCCAGCCCCG	0.617													11	52	---	---	---	---	0	0
TRIP12	9320	broad.mit.edu	37	2	230724288	230724288	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr2:230724288C>A	ENST00000283943.5	-	3	279	c.101G>T	c.(100-102)aGc>aTc	p.S34I	TRIP12_ENST00000409677.1_Missense_Mutation_p.S76I|TRIP12_ENST00000389044.4_Missense_Mutation_p.S76I|TRIP12_ENST00000543084.1_Missense_Mutation_p.S76I|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	34					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGAACTGCAGCTTCTAAGAGG	0.373													4	118	---	---	---	---	0	0
BCL6	604	broad.mit.edu	37	3	187447232	187447232	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr3:187447232C>T	ENST00000406870.2	-	5	1327	c.961G>A	c.(961-963)Gca>Aca	p.A321T	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	321					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTCAGGGGTGCATTGGGGGGC	0.572			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								8	131	---	---	---	---	0	0
TMEM192	201931	broad.mit.edu	37	4	166009709	166009709	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr4:166009709G>A	ENST00000306480.6	-	4	630	c.485C>T	c.(484-486)cCa>cTa	p.P162L	TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192							Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		GCCAGGCTCTGGGAAGGAGTG	0.453													4	27	---	---	---	---	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037257	129037257	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:129037257C>A	ENST00000274487.4	+	20	3258	c.3113C>A	c.(3112-3114)aCc>aAc	p.T1038N	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1038					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GACTGCATGACCGTGTGGGAG	0.567													14	85	---	---	---	---	0	0
SLC22A4	6583	broad.mit.edu	37	5	131630515	131630515	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:131630515T>A	ENST00000200652.3	+	1	380	c.206T>A	c.(205-207)cTg>cAg	p.L69Q	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	69					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	AGTGTCCCGCTGCGGCTGCGG	0.726													8	15	---	---	---	---	0	0
PCDHA6	0	broad.mit.edu	37	5	140208013	140208013	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:140208013C>A	ENST00000529310.1	+	1	451	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGACAGGCCGCTGCAGGT	0.562													22	218	---	---	---	---	0	0
TRIM31	11074	broad.mit.edu	37	6	30071498	30071498	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr6:30071498A>C	ENST00000376734.3	-	9	1218	c.1093T>G	c.(1093-1095)Tcg>Gcg	p.S365A	TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	365						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CCAGCAGACGAGGCCCGAAAC	0.527													14	139	---	---	---	---	0	0
MAP3K5	4217	broad.mit.edu	37	6	136990479	136990479	+	Silent	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr6:136990479C>A	ENST00000359015.4	-	8	1668	c.1308G>T	c.(1306-1308)gcG>gcT	p.A436A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	436					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGAGGAGGACCGCATAATTAA	0.378													28	109	---	---	---	---	0	0
TBX20	57057	broad.mit.edu	37	7	35242247	35242247	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:35242247G>A	ENST00000408931.3	-	8	1665	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	380						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GATGGGGTGAGGAATGGGTGT	0.562													7	66	---	---	---	---	0	0
PRSS58	136541	broad.mit.edu	37	7	141952337	141952337	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:141952337A>T	ENST00000552471.1	-	4	850	c.531T>A	c.(529-531)aaT>aaA	p.N177K	PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	177	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CACACAGCATATTTTCCGTGA	0.448													7	148	---	---	---	---	0	0
DHTKD1	55526	broad.mit.edu	37	10	12148384	12148384	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:12148384T>G	ENST00000263035.4	+	11	2098	c.2036T>G	c.(2035-2037)tTc>tGc	p.F679C		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	679					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTGACACATTCATCTCTGGA	0.537													13	196	---	---	---	---	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361687	105361687	+	Silent	SNP	C	C	A	rs146300680		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:105361687C>A	ENST00000369774.4	-	15	3564	c.3288G>T	c.(3286-3288)gtG>gtT	p.V1096V	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000540321.1_Silent_p.V963V			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1096	SH3 5.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCTCCATGGACACCCCCTCCT	0.537													22	105	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92086069	92086069	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr11:92086069C>T	ENST00000298047.6	+	1	808	c.791C>T	c.(790-792)cCa>cTa	p.P264L	FAT3_ENST00000525166.1_Missense_Mutation_p.P114L|FAT3_ENST00000409404.2_Missense_Mutation_p.P264L|FAT3_ENST00000541502.1_Missense_Mutation_p.P264L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	264	Cadherin 2.|Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACATGCCCCAACAATCCAT	0.443										TCGA Ovarian(4;0.039)			18	109	---	---	---	---	0	0
FREM2	341640	broad.mit.edu	37	13	39265996	39265996	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:39265996C>A	ENST00000280481.7	+	1	4731	c.4515C>A	c.(4513-4515)gaC>gaA	p.D1505E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1505					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAAAATGGACAGTTTTGAGT	0.468													4	111	---	---	---	---	0	0
EIF5	1983	broad.mit.edu	37	14	103807368	103807368	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr14:103807368C>T	ENST00000216554.3	+	12	1951	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	EIF5_ENST00000558506.1_Silent_p.D425D|EIF5_ENST00000392715.2_Silent_p.D425D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	425	Asp-rich (acidic).				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	p.D425fs*>5(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGGATGACGACATCGATATTG	0.398													6	80	---	---	---	---	0	0
WDR90	197335	broad.mit.edu	37	16	703785	703785	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr16:703785G>A	ENST00000549091.1	+	13	1511	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	WDR90_ENST00000293879.4_Silent_p.K473K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	473										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGTTGGCAAGGACCACCACG	0.642													3	77	---	---	---	---	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456579	30456579	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr16:30456579T>A	ENST00000478753.2	-	1	923	c.470A>T	c.(469-471)aAc>aTc	p.N157I	SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I|SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	157					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACTCAGCACGTTGGCACAAGC	0.542													16	92	---	---	---	---	0	0
CTC1	80169	broad.mit.edu	37	17	8138502	8138502	+	Silent	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:8138502A>C	ENST00000315684.8	-	8	1315	c.1308T>G	c.(1306-1308)cgT>cgG	p.R436R		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	436					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAGGCTTCTGACGAGAGAAGC	0.622													14	91	---	---	---	---	0	0
CTC1	80169	broad.mit.edu	37	17	8138518	8138518	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:8138518A>C	ENST00000315684.8	-	8	1299	c.1292T>G	c.(1291-1293)cTt>cGt	p.L431R		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	431					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GAAGCTTTGAAGCAGAACGGC	0.617													18	93	---	---	---	---	0	0
MAP2K4	6416	broad.mit.edu	37	17	12032526	12032526	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:12032526T>A	ENST00000415385.3	+	10	1048	c.995T>A	c.(994-996)gTg>gAg	p.V332E	MAP2K4_ENST00000353533.5_Missense_Mutation_p.V321E	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	321	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ACACAAGTCGTGAAAGGAGAT	0.413			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								14	62	---	---	---	---	0	0
GAST	2520	broad.mit.edu	37	17	39871695	39871695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:39871695C>T	ENST00000329402.3	+	2	74	c.7C>T	c.(7-9)Cga>Tga	p.R3*	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	3			R -> P (in dbSNP:rs34309618).			extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGAGATGCAGCGACTGTGTGT	0.592													42	342	---	---	---	---	0	0
TXNL1	9352	broad.mit.edu	37	18	54278306	54278306	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr18:54278306C>T	ENST00000217515.6	-	7	962	c.758G>A	c.(757-759)gGt>gAt	p.G253D	TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D|TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	253	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TTCCTCTTCACCTTGATTCGA	0.294													9	41	---	---	---	---	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512860	41512860	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:41512860A>G	ENST00000324071.4	+	4	542	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	179					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGCCAACATCATCTGCTCCAT	0.498													3	42	---	---	---	---	0	0
PRKCG	5582	broad.mit.edu	37	19	54395835	54395835	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:54395835C>T	ENST00000263431.3	+	7	1041	c.759C>T	c.(757-759)aaC>aaT	p.N253N	PRKCG_ENST00000540413.1_Silent_p.N253N|PRKCG_ENST00000542049.1_Silent_p.N140N|PRKCG_ENST00000536044.1_Silent_p.N253N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	253	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCTCCCGCAACGACTTCATGG	0.672													8	37	---	---	---	---	0	0
SNAI1	6615	broad.mit.edu	37	20	48600754	48600754	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr20:48600754G>T	ENST00000244050.2	+	2	537	c.476G>T	c.(475-477)tGc>tTc	p.C159F		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	159					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCAAATACTGCAACAAGGAA	0.602													3	34	---	---	---	---	0	0
TCF20	6942	broad.mit.edu	37	22	42609619	42609619	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr22:42609619G>T	ENST00000359486.3	-	1	1829	c.1693C>A	c.(1693-1695)Cag>Aag	p.Q565K	TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTTCATTCTGAGCACCTTGT	0.582													4	66	---	---	---	---	0	0
EFCAB7	84455	broad.mit.edu	37	1	64022884	64022884	+	Silent	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:64022884G>A	ENST00000371088.4	+	10	1560	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	438	EF-hand 3.						calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAAGTGGTGAGAAATGTGATG	0.318													3	37	---	---	---	---	0	0
KPRP	448834	broad.mit.edu	37	1	152733398	152733398	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:152733398G>A	ENST00000368773.1	+	2	1392	c.1334G>A	c.(1333-1335)cGg>cAg	p.R445Q	KPRP_ENST00000606109.1_Missense_Mutation_p.R445Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	445	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAACACCGCGGCCAGTTCCC	0.582													78	157	---	---	---	---	0	0
MIA3	375056	broad.mit.edu	37	1	222835673	222835673	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:222835673A>G	ENST00000344922.5	+	26	5286	c.5261A>G	c.(5260-5262)aAg>aGg	p.K1754R	MIA3_ENST00000344441.6_Splice_Site_p.K1754R|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Splice_Site_p.K632R	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1754	Pro-rich.			K -> R (in Ref. 2; BAH12416).	exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GATGAAGGCAAGGTAAATGCA	0.428													4	236	---	---	---	---	0	0
RYR2	6262	broad.mit.edu	37	1	237754210	237754210	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:237754210G>T	ENST00000366574.2	+	31	4395	c.4078G>T	c.(4078-4080)Gac>Tac	p.D1360Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1360	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGATCGTGTTGACAAAGACAA	0.423													18	41	---	---	---	---	0	0
SOX11	6664	broad.mit.edu	37	2	5833182	5833182	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:5833182T>A	ENST00000322002.3	+	1	384	c.329T>A	c.(328-330)aTg>aAg	p.M110K		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	110					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTCAAGCACATGGCCGACTAC	0.642													3	45	---	---	---	---	0	0
MRPL19	9801	broad.mit.edu	37	2	75879653	75879653	+	Silent	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:75879653T>C	ENST00000393909.2	+	4	370	c.345T>C	c.(343-345)agT>agC	p.S115S	MRPL19_ENST00000409374.1_Silent_p.S115S|MRPL19_ENST00000358788.6_Silent_p.S115S	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	115					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						TTGTAGGAAGTATTCTTCGTG	0.383													62	61	---	---	---	---	0	0
CXCR2	3579	broad.mit.edu	37	2	218999837	218999837	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:218999837G>C	ENST00000318507.2	+	3	740	c.313G>C	c.(313-315)Gcc>Ccc	p.A105P		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	105					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCCCATCTGGGCCGCCTCCAA	0.552													52	86	---	---	---	---	0	0
IGSF10	285313	broad.mit.edu	37	3	151163868	151163868	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:151163868T>C	ENST00000282466.3	-	4	3900	c.3901A>G	c.(3901-3903)Att>Gtt	p.I1301V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1301					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCTTATAATACTAGGAAGC	0.443													86	94	---	---	---	---	0	0
ENOPH1	58478	broad.mit.edu	37	4	83376002	83376002	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:83376002C>A	ENST00000273920.3	+	4	785	c.517C>A	c.(517-519)Ctt>Att	p.L173I	ENOPH1_ENST00000509635.1_Missense_Mutation_p.L85I	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	173					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GGGAGATATTCTTGAGGTAGG	0.398													4	176	---	---	---	---	0	0
XRCC4	7518	broad.mit.edu	37	5	82499425	82499425	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:82499425G>T	ENST00000282268.3	+	5	712	c.537G>T	c.(535-537)cgG>cgT	p.R179R	XRCC4_ENST00000396027.4_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000511817.1_Silent_p.R179R|XRCC4_ENST00000338635.6_Silent_p.R179R	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	179					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTTATAAGCGGTTTATTCTGG	0.313								Non-homologous end-joining					10	83	---	---	---	---	0	0
ANKHD1	54882	broad.mit.edu	37	5	139887388	139887388	+	Silent	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:139887388T>A	ENST00000297183.6	+	20	3694	c.3570T>A	c.(3568-3570)ggT>ggA	p.G1190G	ANKHD1_ENST00000360839.2_Silent_p.G1190G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1190G	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAAACTAGGTATTTCTCCCC	0.368													6	111	---	---	---	---	0	0
C6orf62	81688	broad.mit.edu	37	6	24714586	24714586	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:24714586G>C	ENST00000378119.4	-	3	2556	c.389C>G	c.(388-390)tCt>tGt	p.S130C	C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C|C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	130						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TTTCCACCTAGAAAACAGGAG	0.343													15	81	---	---	---	---	0	0
SCAF8	22828	broad.mit.edu	37	6	155054985	155054985	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:155054985G>A	ENST00000367186.4	+	2	93	c.86G>A	c.(85-87)aGt>aAt	p.S29N	SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000367178.3_5'UTR|SCAF8_ENST00000417268.1_5'UTR			Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	0	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ACCCAGTGCAGTGGCCGCCGC	0.726													3	17	---	---	---	---	0	0
FKBP9L	360132	broad.mit.edu	37	7	55752886	55752886	+	RNA	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:55752886G>A	ENST00000455909.1	-	0	677					NR_027340.1|NR_027342.1				FK506 binding protein 9-like									p.N77N(1)		endometrium(1)|kidney(1)|lung(3)	5						GGACTTCTCCGTTGCCATCCT	0.557													3	54	---	---	---	---	0	0
HIP1	3092	broad.mit.edu	37	7	75192343	75192343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:75192343C>A	ENST00000336926.6	-	11	942	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.E306*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	306					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGATATGTTCTGACAGGGCT	0.582			T	PDGFRB	CMML								4	156	---	---	---	---	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246363	100246363	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:100246363A>T	ENST00000160382.5	-	6	657	c.551T>A	c.(550-552)gTt>gAt	p.V184D		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	184					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTGCTGCAGAACGTAGCCGTC	0.627													5	86	---	---	---	---	0	0
FBXO16	157574	broad.mit.edu	37	8	28304698	28304698	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:28304698G>A	ENST00000380254.2	-	7	981	c.833C>T	c.(832-834)gCa>gTa	p.A278V	FBXO16_ENST00000346498.2_Missense_Mutation_p.A266V|FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	278										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CATTGATTGTGCTTTTCTTAG	0.318													10	127	---	---	---	---	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617256	111617256	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:111617256T>C	ENST00000374667.3	-	1	1983	c.955A>G	c.(955-957)Aca>Gca	p.T319A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	319						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGCAGCTGTGAGCTCCGGG	0.652													15	62	---	---	---	---	0	0
PTGS1	5742	broad.mit.edu	37	9	125154663	125154663	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:125154663G>A	ENST00000362012.2	+	11	1645	c.1640G>A	c.(1639-1641)aGc>aAc	p.S547N	PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N|PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	547					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TGGAAGCCGAGCACATTTGGC	0.527													9	138	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108164131	108164131	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:108164131A>T	ENST00000278616.4	+	31	5088	c.4703A>T	c.(4702-4704)cAt>cTt	p.H1568L	ATM_ENST00000452508.2_Missense_Mutation_p.H1568L	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1568					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTCCTGACCATGTTGTTTTT	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			8	102	---	---	---	---	0	0
BUD13	84811	broad.mit.edu	37	11	116629027	116629027	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:116629027T>C	ENST00000260210.4	-	7	1480	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	BUD13_ENST00000375445.3_Missense_Mutation_p.K352R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	486										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTCTGAGTCCTTTTCTGCTTT	0.443													3	193	---	---	---	---	0	0
TRAFD1	10906	broad.mit.edu	37	12	112572542	112572542	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:112572542C>A	ENST00000257604.5	+	3	665	c.48C>A	c.(46-48)tgC>tgA	p.C16*	TRAFD1_ENST00000412615.2_Splice_Site_p.C16*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	16					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ATTTCCGTAGCAAAAAAGAAA	0.393													4	105	---	---	---	---	0	0
SUPT16H	11198	broad.mit.edu	37	14	21829070	21829070	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr14:21829070T>A	ENST00000216297.2	-	17	2329	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	664					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AATGTATAGATCTTTCAGTTT	0.418													7	55	---	---	---	---	0	0
LRP10	26020	broad.mit.edu	37	14	23344794	23344794	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr14:23344794T>C	ENST00000359591.4	+	5	1328	c.637T>C	c.(637-639)Tca>Cca	p.S213P	LRP10_ENST00000546834.1_Missense_Mutation_p.S213P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	213	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACACCTAGCCTCAGTCTCCCA	0.627													3	189	---	---	---	---	0	0
UBR1	197131	broad.mit.edu	37	15	43242542	43242542	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:43242542C>G	ENST00000290650.4	-	46	5104	c.5026G>C	c.(5026-5028)Gtc>Ctc	p.V1676L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1676					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCAACCAGGACCACTCGGCAT	0.403													4	94	---	---	---	---	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212487	50212487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:50212487C>A	ENST00000284509.6	-	18	2020	c.1879G>T	c.(1879-1881)Gaa>Taa	p.E627*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E627*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	627					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCTATTCGTTCATCCCTCTCT	0.413													4	176	---	---	---	---	0	0
ZNF597	146434	broad.mit.edu	37	16	3487540	3487540	+	Splice_Site	SNP	T	T	G			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:3487540T>G	ENST00000301744.4	-	4	396		c.e4-2			NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CTTCCTCTCCTGTTGATAAAA	0.418													13	31	---	---	---	---	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67859051	67859051	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:67859051G>T	ENST00000388833.3	+	7	905	c.528G>T	c.(526-528)ctG>ctT	p.L176L	TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000415766.3_Silent_p.L161L|TSNAXIP1_ENST00000561639.1_Silent_p.L230L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	176					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGACCAAACTGAGGAAGAACT	0.607													5	72	---	---	---	---	0	0
TUSC5	286753	broad.mit.edu	37	17	1183623	1183623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:1183623G>A	ENST00000333813.3	+	1	667	c.328G>A	c.(328-330)Gtc>Atc	p.V110I		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	110					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGGCCGTCGTCGCCTGCTT	0.632													10	127	---	---	---	---	0	0
DNAH9	1770	broad.mit.edu	37	17	11535997	11535997	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:11535997C>A	ENST00000262442.4	+	8	1680	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P538T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATGATGCACCTGGCTTGGA	0.458													47	78	---	---	---	---	0	0
CDK12	51755	broad.mit.edu	37	17	37687433	37687433	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:37687433G>A	ENST00000447079.4	+	14	4370	c.4337G>A	c.(4336-4338)gGa>gAa	p.G1446E	CDK12_ENST00000430627.2_Missense_Mutation_p.G1437E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1446					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTGGGGCCAGGAACCACTGGG	0.577			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			35	70	---	---	---	---	0	0
MED26	9441	broad.mit.edu	37	19	16688032	16688032	+	Silent	SNP	G	G	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:16688032G>T	ENST00000263390.3	-	3	871	c.609C>A	c.(607-609)ggC>ggA	p.G203G	CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	203					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGCCCTCTGGGCCTGCATGCC	0.672													10	143	---	---	---	---	0	0
NCDN	23154	broad.mit.edu	37	1	36028872	36028872	+	Silent	SNP	G	G	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr1:36028872G>T	ENST00000373243.2	+	5	1838	c.1455G>T	c.(1453-1455)ggG>ggT	p.G485G	NCDN_ENST00000356090.4_Silent_p.G485G|NCDN_ENST00000373253.3_Silent_p.G468G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	485					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAAGGAAGGGGCCCCCTCGC	0.627													13	48	---	---	---	---	0	0
MYEOV2	150678	broad.mit.edu	37	2	241066272	241066272	+	Missense_Mutation	SNP	A	A	G	rs142104600		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr2:241066272A>G	ENST00000307266.3	-	5	466	c.467T>C	c.(466-468)aTg>aCg	p.M156T		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGGTAAACATTAGCGCCTC	0.537													4	117	---	---	---	---	0	0
SCN10A	6336	broad.mit.edu	37	3	38802756	38802756	+	Silent	SNP	G	G	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr3:38802756G>T	ENST00000449082.2	-	6	809	c.810C>A	c.(808-810)ggC>ggA	p.G270G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	270					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTTGAGGTTGCCCTTGAAGA	0.473													4	51	---	---	---	---	0	0
CCDC66	285331	broad.mit.edu	37	3	56627995	56627995	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr3:56627995T>A	ENST00000394672.3	+	10	1413	c.1343T>A	c.(1342-1344)cTc>cAc	p.L448H	CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H|CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	448										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATGACTGCTCTCTTGGACCCA	0.373													18	76	---	---	---	---	0	0
KDR	3791	broad.mit.edu	37	4	55946268	55946268	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr4:55946268C>T	ENST00000263923.4	-	30	4206	c.3911G>A	c.(3910-3912)gGc>gAc	p.G1304D	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1304					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGACTGGTAGCCGCTTGTCTG	0.507			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	111	---	---	---	---	0	0
FAM8A1	51439	broad.mit.edu	37	6	17605181	17605181	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr6:17605181A>G	ENST00000259963.3	+	3	933	c.878A>G	c.(877-879)gAt>gGt	p.D293G		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	293	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GAAGAAATAGATGAAGACACA	0.323													8	33	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100681501	100681501	+	Silent	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr7:100681501C>T	ENST00000306151.4	+	3	6868	c.6804C>T	c.(6802-6804)agC>agT	p.S2268S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2268	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGGTACCAGCATACCAACTT	0.488													42	270	---	---	---	---	0	0
LAMB1	3912	broad.mit.edu	37	7	107580636	107580636	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr7:107580636C>T	ENST00000393561.1	-	23	3815	c.3631G>A	c.(3631-3633)Gat>Aat	p.D1211N	LAMB1_ENST00000222399.6_Missense_Mutation_p.D1187N			P07942	LAMB1_HUMAN	laminin, beta 1	1187	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGATCACATCCCAGAGAGCA	0.572													11	94	---	---	---	---	0	0
C9orf43	257169	broad.mit.edu	37	9	116191656	116191656	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr9:116191656G>T	ENST00000288462.4	+	14	1822	c.1376G>T	c.(1375-1377)gGg>gTg	p.G459V	C9orf43_ENST00000374165.1_Missense_Mutation_p.G459V	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	459										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CAGTCCTCTGGGGCAGAGTGA	0.527													3	31	---	---	---	---	0	0
PDE6C	5146	broad.mit.edu	37	10	95405746	95405746	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr10:95405746G>C	ENST00000371447.3	+	15	2015	c.1877G>C	c.(1876-1878)gGt>gCt	p.G626A		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	626					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGACTTCATGGTTCTTCTATT	0.403													8	37	---	---	---	---	0	0
ZIC5	85416	broad.mit.edu	37	13	100617974	100617974	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr13:100617974G>C	ENST00000267294.4	-	2	1882	c.1649C>G	c.(1648-1650)cCc>cGc	p.P550R		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	550					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGTAGTAGGGCTTGTCACT	0.493													19	81	---	---	---	---	0	0
ANKFN1	162282	broad.mit.edu	37	17	54558083	54558083	+	Silent	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:54558083G>A	ENST00000566473.2	+	16	2004	c.2004G>A	c.(2002-2004)gtG>gtA	p.V668V	ANKFN1_ENST00000318698.2_Silent_p.V668V			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	668										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGGAAAGTGTGGATCATACTT	0.413													13	116	---	---	---	---	0	0
CLTC	1213	broad.mit.edu	37	17	57733350	57733350	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:57733350G>A	ENST00000269122.3	+	6	1205	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	311	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.A311S(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACCTCATGAAGCCACAGCTGG	0.378			T	"""ALK, TFE3"""	"""ALCL, renal """								15	51	---	---	---	---	0	0
ZNF396	252884	broad.mit.edu	37	18	32949299	32949299	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr18:32949299C>A	ENST00000306346.1	-	4	1019	c.888G>T	c.(886-888)caG>caT	p.Q296H	ZNF396_ENST00000589332.1_Missense_Mutation_p.Q296H	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	296					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TTCGTCGATGCTGAATCAGAA	0.448													3	48	---	---	---	---	0	0
GEMIN7	0	broad.mit.edu	37	19	45593388	45593388	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr19:45593388A>G	ENST00000270257.4	+	3	263	c.16A>G	c.(16-18)Aac>Gac	p.N6D	GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586744.1_RNA	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	6					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		AACTCCAGTGAACATTCCCGT	0.577													35	134	---	---	---	---	0	0
SSX5	6758	broad.mit.edu	37	X	48054234	48054234	+	Silent	SNP	G	G	A			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chrX:48054234G>A	ENST00000311798.1	-	4	301	c.249C>T	c.(247-249)gcC>gcT	p.A83A	SSX5_ENST00000376923.1_Silent_p.A42A|SSX5_ENST00000347757.1_Silent_p.A42A	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	42	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TTTTCTCCGAGGCTTTCATCT	0.388													14	30	---	---	---	---	0	0
KIF17	57576	broad.mit.edu	37	1	21040007	21040007	+	Silent	SNP	C	C	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:21040007C>G	ENST00000247986.2	-	3	730	c.420G>C	c.(418-420)ctG>ctC	p.L140L	KIF17_ENST00000400463.3_Silent_p.L140L|KIF17_ENST00000375044.1_Silent_p.L40L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	140	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGTAGATCTCCAGGTAGGAGG	0.582													3	43	---	---	---	---	0	0
NDC1	55706	broad.mit.edu	37	1	54284690	54284690	+	Silent	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:54284690T>C	ENST00000371429.3	-	6	1255	c.657A>G	c.(655-657)gaA>gaG	p.E219E	NDC1_ENST00000234725.8_Silent_p.E104E|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000540001.1_Silent_p.E219E|NDC1_ENST00000537333.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		GGAACAGTGATTCCACACAAC	0.318													3	34	---	---	---	---	0	0
USP33	23032	broad.mit.edu	37	1	78194272	78194272	+	Silent	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:78194272G>A	ENST00000370793.1	-	11	1282	c.936C>T	c.(934-936)agC>agT	p.S312S	USP33_ENST00000370794.3_Silent_p.S281S|USP33_ENST00000357428.1_Silent_p.S312S|USP33_ENST00000370792.3_Silent_p.S312S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	312					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATCCGACTGGCTCTTGTCTT	0.378													9	86	---	---	---	---	0	0
COL11A1	1301	broad.mit.edu	37	1	103427811	103427811	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:103427811C>A	ENST00000358392.2	-	40	3388	c.3071G>T	c.(3070-3072)gGt>gTt	p.G1024V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G973V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G896V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1012V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1012	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G1012V(1)|p.G1024V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTGAGGACCTGGATCACC	0.388													5	81	---	---	---	---	0	0
AMPD1	270	broad.mit.edu	37	1	115223006	115223006	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:115223006A>G	ENST00000369538.3	-	5	775	c.728T>C	c.(727-729)gTa>gCa	p.V243A	AMPD1_ENST00000520113.2_Missense_Mutation_p.V247A|AMPD1_ENST00000353928.6_Missense_Mutation_p.V214A	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	214					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GACGTAAACTACACCGTCCTT	0.443													30	101	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	185953341	185953341	+	Missense_Mutation	SNP	G	G	A	rs145551718		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:185953341G>A	ENST00000271588.4	+	19	3060	c.2831G>A	c.(2830-2832)aGc>aAc	p.S944N	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.S944N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	944	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTGATGGGAGCCTCCATATT	0.388													3	58	---	---	---	---	0	0
AVPR1B	553	broad.mit.edu	37	1	206224447	206224447	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:206224447T>C	ENST00000367126.4	+	1	472	c.7T>C	c.(7-9)Tct>Cct	p.S3P		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	3					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTCATGGATTCTGGGCCTCT	0.607													20	445	---	---	---	---	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10914947	10914947	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr2:10914947C>A	ENST00000381661.3	+	9	781	c.672C>A	c.(670-672)ttC>ttA	p.F224L	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.F224L	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	224					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGGGCCTTTTCACTGTGACTC	0.517													4	194	---	---	---	---	0	0
IWS1	55677	broad.mit.edu	37	2	128262415	128262415	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr2:128262415A>G	ENST00000295321.4	-	3	1323	c.1064T>C	c.(1063-1065)aTg>aCg	p.M355T	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.M362T	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	355	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTTTCTGTCCATATGGCTGTC	0.423													24	142	---	---	---	---	0	0
BSN	8927	broad.mit.edu	37	3	49697949	49697949	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr3:49697949C>T	ENST00000296452.4	+	6	8785	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2891					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGCCTGGTCCGCAAGGTGAA	0.657													6	178	---	---	---	---	0	0
PLK4	0	broad.mit.edu	37	4	128818021	128818021	+	Silent	SNP	G	G	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr4:128818021G>T	ENST00000270861.5	+	15	3043	c.2769G>T	c.(2767-2769)gtG>gtT	p.V923V	PLK4_ENST00000507249.1_Silent_p.V862V|PLK4_ENST00000513090.1_Silent_p.V891V|PLK4_ENST00000515069.1_Silent_p.V845V|PLK4_ENST00000514379.1_Silent_p.V882V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	923	POLO box.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGGCAGGAGTGTCTTCTATCA	0.403													5	94	---	---	---	---	0	0
SH3TC2	79628	broad.mit.edu	37	5	148418008	148418008	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr5:148418008T>C	ENST00000515425.1	-	8	952	c.851A>G	c.(850-852)aAg>aGg	p.K284R	SH3TC2_ENST00000394358.2_Missense_Mutation_p.K169R|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K277R|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	284	SH3.						binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCATCCTTTTCTCCTGG	0.483													3	198	---	---	---	---	0	0
MCM3	4172	broad.mit.edu	37	6	52137119	52137119	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:52137119T>G	ENST00000596288.1	-	12	1969	c.1942A>C	c.(1942-1944)Atg>Ctg	p.M648L	MCM3_ENST00000229854.7_Missense_Mutation_p.M603L|MCM3_ENST00000419835.2_Missense_Mutation_p.M557L	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	603					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TCTGAGCTCATGCTATCCTGG	0.567													5	79	---	---	---	---	0	0
LMBRD1	55788	broad.mit.edu	37	6	70447838	70447838	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:70447838T>C	ENST00000370577.3	-	7	861	c.632A>G	c.(631-633)tAc>tGc	p.Y211C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y138C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	211					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTTACTGTGTAAGTTATAGC	0.284													3	27	---	---	---	---	0	0
SEMA3D	223117	broad.mit.edu	37	7	84671533	84671533	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr7:84671533G>C	ENST00000284136.6	-	8	973	c.930C>G	c.(928-930)tgC>tgG	p.C310W		NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	310	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAGGAATTGAGCAAATCAGTC	0.378													10	293	---	---	---	---	0	0
SOHLH1	402381	broad.mit.edu	37	9	138588485	138588485	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr9:138588485C>A	ENST00000298466.5	-	5	694	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.V212L	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	212					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CCACCCCGCACCTGGCACAGC	0.672													11	28	---	---	---	---	0	0
CCKBR	887	broad.mit.edu	37	11	6281223	6281223	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:6281223G>C	ENST00000525462.1	+	1	68	c.65G>C	c.(64-66)tGc>tCc	p.C22S	CCKBR_ENST00000532715.1_Missense_Mutation_p.C22S|CCKBR_ENST00000334619.2_Missense_Mutation_p.C22S|CCKBR_ENST00000525014.1_Missense_Mutation_p.C22S|CCKBR_ENST00000531712.1_Missense_Mutation_p.C22S			P32239	GASR_HUMAN	cholecystokinin B receptor	22					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTTCCCTGTGCCGCCCGGGG	0.716													3	10	---	---	---	---	0	0
OR8H2	390151	broad.mit.edu	37	11	55873014	55873014	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:55873014T>A	ENST00000313503.1	+	1	496	c.496T>A	c.(496-498)Ttg>Atg	p.L166M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATGAGCAGATTGCATTTCTA	0.428										HNSCC(53;0.14)			8	215	---	---	---	---	0	0
OR6C65	403282	broad.mit.edu	37	12	55794777	55794777	+	Silent	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:55794777T>C	ENST00000379665.2	+	1	564	c.465T>C	c.(463-465)ttT>ttC	p.F155F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TCATTATTTTTCCCCCCGTGA	0.438													4	151	---	---	---	---	0	0
PRMT5	10419	broad.mit.edu	37	14	23395506	23395506	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:23395506C>G	ENST00000324366.8	-	7	837		c.e7-1		PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Splice_Site|PRMT5_ENST00000553897.1_Splice_Site|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000553641.1_Splice_Site|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000216350.8_Splice_Site|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397441.2_Splice_Site	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ATTTCAAGAGCTACATGAGGC	0.473													3	57	---	---	---	---	0	0
MOAP1	64112	broad.mit.edu	37	14	93649914	93649914	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:93649914T>C	ENST00000556883.1	-	2	1158	c.674A>G	c.(673-675)aAt>aGt	p.N225S	MOAP1_ENST00000298894.4_Missense_Mutation_p.N225S			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	225					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		aattaaaggattgtttatctt	0.453													29	95	---	---	---	---	0	0
CHD2	1106	broad.mit.edu	37	15	93485179	93485179	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:93485179A>G	ENST00000394196.4	+	8	1888	c.820A>G	c.(820-822)Aaa>Gaa	p.K274E	CHD2_ENST00000557381.1_Missense_Mutation_p.K274E|CHD2_ENST00000536619.1_Missense_Mutation_p.K287E|CHD2_ENST00000420239.2_Missense_Mutation_p.K274E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	274	Chromo 1.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACTGGGAAAGAAAGGAGGTAT	0.328													3	97	---	---	---	---	0	0
PARD6A	50855	broad.mit.edu	37	16	67694962	67694962	+	Silent	SNP	T	T	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:67694962T>C	ENST00000458121.2	+	1	112	c.21T>C	c.(19-21)acT>acC	p.T7T	PARD6A_ENST00000602551.1_Silent_p.T7T|PARD6A_ENST00000219255.3_Silent_p.T7T	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	7	Interaction with PRKCI and PRKCZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGCAGAGGACTCCGGCGCGCA	0.751													4	49	---	---	---	---	0	0
PDPR	55066	broad.mit.edu	37	16	70154579	70154579	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:70154579T>G	ENST00000288050.4	+	3	1141	c.184T>G	c.(184-186)Tcc>Gcc	p.S62A	PDPR_ENST00000398122.3_Intron|PDPR_ENST00000568530.1_Missense_Mutation_p.S62A	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	62					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTATCACCTCTCCAAAATGGG	0.557													4	96	---	---	---	---	0	0
FZR1	51343	broad.mit.edu	37	19	3527681	3527681	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr19:3527681C>G	ENST00000441788.2	+	7	759	c.523C>G	c.(523-525)Ccc>Gcc	p.P175A	FZR1_ENST00000395095.3_Missense_Mutation_p.P175A|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	175					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAAGATCCCCTTCAAGGT	0.642													4	55	---	---	---	---	0	0
EMR2	30817	broad.mit.edu	37	19	14877064	14877064	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr19:14877064T>A	ENST00000315576.3	-	7	1068	c.617A>T	c.(616-618)aAc>aTc	p.N206I	EMR2_ENST00000353005.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.N206I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.N206I|EMR2_ENST00000596991.2_Missense_Mutation_p.N206I|EMR2_ENST00000392967.2_Missense_Mutation_p.N206I|EMR2_ENST00000392964.3_Intron	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	206	EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GACGGTATTGTTTGGGCCATT	0.592													12	185	---	---	---	---	0	0
ITGB2	3689	broad.mit.edu	37	21	46320321	46320321	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr21:46320321C>A	ENST00000397850.2	-	8	1263	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	ITGB2_ENST00000397854.3_Missense_Mutation_p.G214C|ITGB2_ENST00000397857.1_Missense_Mutation_p.G271C|ITGB2_ENST00000302347.5_Missense_Mutation_p.G271C|ITGB2_ENST00000355153.4_Missense_Mutation_p.G271C|ITGB2_ENST00000397852.1_Missense_Mutation_p.G271C			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	271	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTCCCGTCGCCCGCGAAATGG	0.622													15	52	---	---	---	---	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39385568	39385568	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr22:39385568G>A	ENST00000402182.3	+	5	731	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	APOBEC3B_ENST00000333467.3_Missense_Mutation_p.G226S|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G226S			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	226					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CCTGGACAATGGCACCTGGGT	0.562													13	28	---	---	---	---	0	0
GLRA2	2742	broad.mit.edu	37	X	14627241	14627241	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:14627241G>A	ENST00000218075.4	+	7	1374	c.844G>A	c.(844-846)Gca>Aca	p.A282T	GLRA2_ENST00000355020.4_Missense_Mutation_p.A282T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A193T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	282					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AAATATGGATGCAGCCCCTGC	0.478													4	75	---	---	---	---	0	0
GRIA3	2892	broad.mit.edu	37	X	122616696	122616696	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:122616696A>C	ENST00000264357.5	+	15	2778	c.2486A>C	c.(2485-2487)tAt>tCt	p.Y829S	GRIA3_ENST00000371251.1_Missense_Mutation_p.Y829S|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y829S	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	829					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGCGTTTTCTATATACTTGTC	0.468													9	54	---	---	---	---	0	0
MST4	0	broad.mit.edu	37	X	131188793	131188793	+	Silent	SNP	A	A	G			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:131188793A>G	ENST00000394334.2	+	3	430	c.177A>G	c.(175-177)gaA>gaG	p.E59E	MST4_ENST00000354719.6_Silent_p.E59E|MST4_ENST00000496850.1_Silent_p.E59E|MST4_ENST00000481105.1_Silent_p.E59E|MST4_ENST00000394335.2_Intron	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		59	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACCTTGAGGAAGCCGAAGATG	0.373													23	20	---	---	---	---	0	0
SRPK3	26576	broad.mit.edu	37	X	153046771	153046771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:153046771G>T	ENST00000489426.1	+	8	2727	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	SRPK3_ENST00000370104.1_Nonsense_Mutation_p.E54*|SRPK3_ENST00000393786.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370101.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370100.1_Nonsense_Mutation_p.E12*|SRPK3_ENST00000370108.3_Nonsense_Mutation_p.E54*			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	54	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACGACGAGGAACAGGAAGA	0.667													3	15	---	---	---	---	0	0
CFH	3075	broad.mit.edu	37	1	196684882	196684882	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr1:196684882A>G	ENST00000367429.4	+	11	1919	c.1679A>G	c.(1678-1680)gAt>gGt	p.D560G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	560	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGTTGGTCTGATTTACCCATA	0.328													15	137	---	---	---	---	0	0
MEMO1	51072	broad.mit.edu	37	2	32145945	32145945	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:32145945C>A	ENST00000295065.5	-	4	556	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	MEMO1_ENST00000404530.1_Missense_Mutation_p.V83L|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.V86L|MEMO1_ENST00000426310.2_Missense_Mutation_p.V60L	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1						regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GAGAGGGGCACATGATGAGAA	0.373													31	69	---	---	---	---	0	0
HEATR5B	54497	broad.mit.edu	37	2	37280709	37280709	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:37280709G>A	ENST00000233099.5	-	17	2536	c.2441C>T	c.(2440-2442)gCt>gTt	p.A814V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A814V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	814							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACACCTTTAGCTTGTTTAAC	0.318													12	36	---	---	---	---	0	0
DNAH1	25981	broad.mit.edu	37	3	52430809	52430809	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:52430809A>T	ENST00000420323.2	+	72	11867	c.11606A>T	c.(11605-11607)tAc>tTc	p.Y3869F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3934	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACATCCCCTACAAGGTGGGC	0.597													80	197	---	---	---	---	0	0
UMPS	7372	broad.mit.edu	37	3	124449418	124449418	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:124449418T>C	ENST00000232607.2	+	1	206	c.100T>C	c.(100-102)Tcc>Ccc	p.S34P	UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	34	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		CGGGCTTTCCTCCCCCATCTA	0.602													3	98	---	---	---	---	0	0
ADAM29	11086	broad.mit.edu	37	4	175897613	175897613	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr4:175897613T>C	ENST00000359240.3	+	5	1607	c.937T>C	c.(937-939)Tgt>Cgt	p.C313R	ADAM29_ENST00000514159.1_Missense_Mutation_p.C313R|ADAM29_ENST00000404450.4_Missense_Mutation_p.C313R|ADAM29_ENST00000445694.1_Missense_Mutation_p.C313R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	313	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACACCGTAGTTGTGCAATTGT	0.418													40	90	---	---	---	---	0	0
CSF1R	1436	broad.mit.edu	37	5	149452922	149452922	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr5:149452922A>G	ENST00000286301.3	-	7	1315	c.1024T>C	c.(1024-1026)Ttt>Ctt	p.F342L	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	342	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGGTCAGAAAAGGGTCCCAGG	0.567													4	254	---	---	---	---	0	0
PTK7	0	broad.mit.edu	37	6	43097526	43097526	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:43097526G>C	ENST00000230419.4	+	3	650	c.429G>C	c.(427-429)caG>caC	p.Q143H	PTK7_ENST00000352931.2_Missense_Mutation_p.Q143H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q143H|PTK7_ENST00000471863.1_Missense_Mutation_p.Q143H|PTK7_ENST00000349241.2_Missense_Mutation_p.Q143H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q151H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	143	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCCAGCCACAGACCCAGGTCA	0.592											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	78	---	---	---	---	0	0
SERINC1	57515	broad.mit.edu	37	6	122779772	122779772	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:122779772C>T	ENST00000339697.4	-	2	178	c.94G>A	c.(94-96)Gga>Aga	p.G32R		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1						phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGTTGTTTCCACTAGGACAG	0.373													53	108	---	---	---	---	0	0
RP11-510H23.1	0	broad.mit.edu	37	6	125233565	125233565	+	RNA	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:125233565G>T	ENST00000439075.1	-	0	1180					NR_026876.1																						TTTTCTAATGGCTATCTTGTT	0.378													7	45	---	---	---	---	0	0
DPP6	1804	broad.mit.edu	37	7	154379675	154379675	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr7:154379675C>T	ENST00000406326.1	+	6	1346	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F	DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACCTGCAGCCCTCAGGCAGCA	0.587													69	112	---	---	---	---	0	0
DAPK1	1612	broad.mit.edu	37	9	90252885	90252885	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr9:90252885C>T	ENST00000469640.2	+	4	687	c.312C>T	c.(310-312)ttC>ttT	p.F104F	DAPK1_ENST00000358077.5_Silent_p.F104F|DAPK1_ENST00000491893.1_Silent_p.F104F|DAPK1_ENST00000472284.1_Silent_p.F104F|DAPK1_ENST00000408954.3_Silent_p.F104F			P53355	DAPK1_HUMAN	death-associated protein kinase 1	104	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGTTTGACTTCTTAGCTGAAA	0.418									Chronic Lymphocytic Leukemia, Familial Clustering of				8	93	---	---	---	---	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643175	1643175	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:1643175C>T	ENST00000399682.1	-	1	193	c.149G>A	c.(148-150)tGt>tAt	p.C50Y		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	50	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GATGGGCACACAGCAGCTGGa	0.682													73	149	---	---	---	---	0	0
DLG2	1740	broad.mit.edu	37	11	83243769	83243769	+	Silent	SNP	T	T	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:83243769T>C	ENST00000398309.2	-	16	2330	c.1860A>G	c.(1858-1860)ggA>ggG	p.G620G	DLG2_ENST00000376104.2_Silent_p.G725G|DLG2_ENST00000537455.1_Silent_p.G374G|DLG2_ENST00000426717.2_Silent_p.G102G|DLG2_ENST00000398304.1_Silent_p.G102G|DLG2_ENST00000543673.1_Silent_p.G725G|DLG2_ENST00000532653.1_Silent_p.G620G|DLG2_ENST00000418306.2_Silent_p.G517G|DLG2_ENST00000530800.1_Silent_p.G129G|DLG2_ENST00000280241.8_Silent_p.G659G|DLG2_ENST00000330014.6_Silent_p.G559G|DLG2_ENST00000404783.3_Silent_p.G102G|DLG2_ENST00000524982.1_Silent_p.G620G|DLG2_ENST00000376106.3_Silent_p.G102G|DLG2_ENST00000531015.1_Silent_p.G587G	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	620						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AATCAATCACTCCAGGTTTGG	0.398													40	57	---	---	---	---	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158697	58158697	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr12:58158697A>G	ENST00000228606.4	-	5	1012	c.803T>C	c.(802-804)gTg>gCg	p.V268A		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	268					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TCGCCGCTCCACGTGCCTCTG	0.607													41	84	---	---	---	---	0	0
ACSS3	79611	broad.mit.edu	37	12	81648693	81648693	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr12:81648693C>A	ENST00000548058.1	+	16	2963	c.2053C>A	c.(2053-2055)Caa>Aaa	p.Q685K	ACSS3_ENST00000261206.3_Missense_Mutation_p.Q684K|ACSS3_ENST00000548324.1_Missense_Mutation_p.Q367K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	685						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AATGCTGAAGCAAGCATAATG	0.303													3	62	---	---	---	---	0	0
POSTN	10631	broad.mit.edu	37	13	38158190	38158190	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr13:38158190G>T	ENST00000379747.4	-	9	1276	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	POSTN_ENST00000379743.4_Missense_Mutation_p.L387I|POSTN_ENST00000379742.4_Missense_Mutation_p.L387I|POSTN_ENST00000379749.4_Missense_Mutation_p.L387I|POSTN_ENST00000541179.1_Missense_Mutation_p.L387I|POSTN_ENST00000541481.1_Missense_Mutation_p.L387I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	387	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGGGCCACAAGATCCGTGAAG	0.438													12	34	---	---	---	---	0	0
CEBPE	1053	broad.mit.edu	37	14	23587880	23587880	+	Silent	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr14:23587880G>A	ENST00000206513.5	-	1	945	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	141						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGGTACTGCAGGGGATTGTAG	0.677													15	21	---	---	---	---	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1709961	1709961	+	Silent	SNP	G	G	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:1709961G>A	ENST00000397412.3	+	11	2409	c.2310G>A	c.(2308-2310)ggG>ggA	p.G770G	CRAMP1L_ENST00000293925.5_Silent_p.G770G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Silent_p.G148G|CRAMP1L_ENST00000436138.3_Silent_p.G767G			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	770						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CGCCCCCAGGGAAGGTGGTGA	0.637													18	35	---	---	---	---	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1709962	1709962	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:1709962A>G	ENST00000397412.3	+	11	2410	c.2311A>G	c.(2311-2313)Aag>Gag	p.K771E	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K771E|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K149E|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K768E			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	771						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCCCCCAGGGAAGGTGGTGAC	0.637													18	34	---	---	---	---	0	0
KRI1	65095	broad.mit.edu	37	19	10670558	10670558	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:10670558C>T	ENST00000312962.6	-	10	892	c.873G>A	c.(871-873)gaG>gaA	p.E291E	KRI1_ENST00000361821.5_Silent_p.E287E	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	291	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCAGAAACAGCTCCCCTTCGT	0.592													11	27	---	---	---	---	0	0
ZNF615	284370	broad.mit.edu	37	19	52498074	52498074	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:52498074A>T	ENST00000602063.1	-	6	604	c.255T>A	c.(253-255)gaT>gaA	p.D85E	ZNF615_ENST00000594083.1_Missense_Mutation_p.D96E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D85E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D96E|ZNF615_ENST00000391795.3_Missense_Mutation_p.D90E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCAGAGGATCATCAATTTTCC	0.328													6	37	---	---	---	---	0	0
ATP9A	10079	broad.mit.edu	37	20	50244193	50244193	+	Silent	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:50244193C>A	ENST00000338821.5	-	17	2055	c.1791G>T	c.(1789-1791)cgG>cgT	p.R597R	ATP9A_ENST00000402822.1_Silent_p.R476R|ATP9A_ENST00000311637.5_Silent_p.R461R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	597					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCACGAGCACCCGCAGCCCTT	0.567													104	264	---	---	---	---	0	0
CYP24A1	0	broad.mit.edu	37	20	52779274	52779274	+	Silent	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:52779274C>T	ENST00000216862.3	-	7	1365	c.972G>A	c.(970-972)caG>caA	p.Q324Q	CYP24A1_ENST00000395955.3_Silent_p.Q324Q|CYP24A1_ENST00000395954.3_Silent_p.Q182Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	324					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCGCAGCCAGCTGGAGCTCTG	0.418													8	59	---	---	---	---	0	0
CYP24A1	0	broad.mit.edu	37	20	52779277	52779277	+	Silent	SNP	G	G	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:52779277G>T	ENST00000216862.3	-	7	1362	c.969C>A	c.(967-969)ctC>ctA	p.L323L	CYP24A1_ENST00000395955.3_Silent_p.L323L|CYP24A1_ENST00000395954.3_Silent_p.L181L	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	323					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CAGCCAGCTGGAGCTCTGTGA	0.418													9	59	---	---	---	---	0	0
TOP3B	8940	broad.mit.edu	37	22	22324625	22324625	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr22:22324625C>T	ENST00000398793.2	-	6	972	c.538G>A	c.(538-540)Gct>Act	p.A180T	TOP3B_ENST00000357179.5_Missense_Mutation_p.A180T|TOP3B_ENST00000413067.2_Intron	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	180					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCCTGGCGAGCATCCACTGAG	0.622													7	72	---	---	---	---	0	0
GK	2710	broad.mit.edu	37	X	30737631	30737631	+	Splice_Site	SNP	G	G	C			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:30737631G>C	ENST00000378943.3	+	14	1311	c.1132G>C	c.(1132-1134)Ggg>Cgg	p.G378R	GK_ENST00000378946.3_Splice_Site_p.G384R|GK_ENST00000378945.3_Splice_Site_p.G378R|RP11-242C19.2_ENST00000497961.1_RNA|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000427190.1_Splice_Site_p.G179R	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	384					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CAGCGCAAGAGGGTAAGTATT	0.353													29	15	---	---	---	---	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983190	140983190	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:140983190C>A	ENST00000298296.1	+	5	1045	c.1045C>A	c.(1045-1047)Caa>Aaa	p.Q349K	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101K|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	349	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAATCCTCAAGGTAAGGG	0.577													45	27	---	---	---	---	0	0
NFYC	4802	broad.mit.edu	37	1	41204550	41204550	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:41204550G>A	ENST00000372652.1	+	2	303	c.35G>A	c.(34-36)aGc>aAc	p.S12N	NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000308733.5_Missense_Mutation_p.S12N|NFYC_ENST00000372651.1_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_Missense_Mutation_p.S12N|NFYC_ENST00000427410.2_Missense_Mutation_p.S12N|NFYC_ENST00000456393.2_Missense_Mutation_p.S12N|NFYC_ENST00000440226.3_Missense_Mutation_p.S12N|NFYC_ENST00000372653.1_Missense_Mutation_p.S12N|NFYC_ENST00000425457.2_Missense_Mutation_p.S12N			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	12					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GGTACTAGCAGCAGTGATGCC	0.418													3	65	---	---	---	---	0	0
DOCK7	85440	broad.mit.edu	37	1	62941378	62941378	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:62941378C>G	ENST00000251157.5	-	45	5961	c.5928G>C	c.(5926-5928)gaG>gaC	p.E1976D	DOCK7_ENST00000340370.5_Splice_Site_p.E1956D|DOCK7_ENST00000489185.1_5'UTR	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1987	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATGGACTTACCTCTTCTTTAT	0.378													48	72	---	---	---	---	0	0
GTF2B	2959	broad.mit.edu	37	1	89319013	89319013	+	Silent	SNP	A	A	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:89319013A>T	ENST00000370500.5	-	7	952	c.834T>A	c.(832-834)gcT>gcA	p.A278A		NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	278					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		CAGCAACACCAGCAATATCTC	0.398													49	59	---	---	---	---	0	0
OR2L2	26246	broad.mit.edu	37	1	248201938	248201938	+	Silent	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:248201938G>T	ENST00000366479.2	+	1	465	c.369G>T	c.(367-369)gtG>gtT	p.V123V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATCGTTATGTGGCCATTTGCT	0.438													57	62	---	---	---	---	0	0
APOB	338	broad.mit.edu	37	2	21231311	21231311	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr2:21231311G>T	ENST00000233242.1	-	26	8556	c.8429C>A	c.(8428-8430)gCa>gAa	p.A2810E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2810					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGTGCATTTGCTTGAAAATC	0.453													42	115	---	---	---	---	0	0
C3orf79	152118	broad.mit.edu	37	3	153202433	153202433	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr3:153202433A>C	ENST00000446603.2	+	1	150	c.88A>C	c.(88-90)Act>Cct	p.T30P	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	30										endometrium(1)|large_intestine(3)	4						TCTTCTGCCTACTCCTGAGCT	0.433													124	154	---	---	---	---	0	0
ELOVL6	79071	broad.mit.edu	37	4	110972803	110972803	+	Silent	SNP	T	T	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr4:110972803T>C	ENST00000394607.3	-	5	652	c.489A>G	c.(487-489)ggA>ggG	p.G163G	ELOVL6_ENST00000302274.3_Silent_p.G163G			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	163					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TGAACCAACCTCCCCCGGCAA	0.517													3	53	---	---	---	---	0	0
DNAH5	1767	broad.mit.edu	37	5	13700941	13700941	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr5:13700941T>C	ENST00000265104.4	-	78	13635	c.13531A>G	c.(13531-13533)Atg>Gtg	p.M4511V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4511					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAGCACCATATTGTCCAGA	0.463									Kartagener syndrome				138	70	---	---	---	---	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928671	10928671	+	Silent	SNP	C	C	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr6:10928671C>T	ENST00000283141.6	+	18	1772	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	492						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			tccctgacttcccgcaacaAC	0.498													24	25	---	---	---	---	0	0
CMTR1	23070	broad.mit.edu	37	6	37426394	37426394	+	Silent	SNP	C	C	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr6:37426394C>T	ENST00000373451.4	+	9	948	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L		NM_015050.2	NP_055865.1			cap methyltransferase 1	262																	GCAGAAGCCACTGGTGAAGGA	0.522													13	22	---	---	---	---	0	0
SDK1	221935	broad.mit.edu	37	7	3990593	3990593	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:3990593G>T	ENST00000404826.2	+	6	1025	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L	SDK1_ENST00000389531.3_Missense_Mutation_p.V296L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	296	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAACCATTGTGGTTCCCCC	0.552													30	49	---	---	---	---	0	0
KRIT1	889	broad.mit.edu	37	7	91870306	91870306	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:91870306C>T	ENST00000394507.1	-	6	1046		c.e6+1		KRIT1_ENST00000340022.2_Splice_Site|KRIT1_ENST00000394503.2_Splice_Site|KRIT1_ENST00000412043.2_Splice_Site|KRIT1_ENST00000394505.2_Splice_Site	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing						angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGTTTCCTACCTCTGATACC	0.318													28	67	---	---	---	---	0	0
TRBV2	0	broad.mit.edu	37	7	142000833	142000833	+	RNA	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:142000833C>A	ENST00000455382.2	+	0	87																											GGATACCTGGCTCGTATGCTG	0.478													33	85	---	---	---	---	0	0
PPP1R42	286187	broad.mit.edu	37	8	67922953	67922953	+	Silent	SNP	C	C	G			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr8:67922953C>G	ENST00000522909.1	-	5	733	c.549G>C	c.(547-549)gtG>gtC	p.V183V	PPP1R42_ENST00000324682.5_Silent_p.V183V			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	183																	ACACTACCTTCACATGCAGAA	0.254													11	69	---	---	---	---	0	0
PYROXD2	84795	broad.mit.edu	37	10	100150769	100150769	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr10:100150769T>C	ENST00000370575.4	-	11	1181	c.1133A>G	c.(1132-1134)aAt>aGt	p.N378S	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	378							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCTTACCATTGATCTTGGT	0.547													10	166	---	---	---	---	0	0
FNBP4	23360	broad.mit.edu	37	11	47758292	47758292	+	Splice_Site	SNP	G	G	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr11:47758292G>C	ENST00000263773.5	-	9	1469	c.1457C>G	c.(1456-1458)gCa>gGa	p.A486G	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	486										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGCACCAATTGCTGTAAAAAA	0.303													3	0	---	---	---	---	0	0
SSH3	54961	broad.mit.edu	37	11	67079329	67079329	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr11:67079329C>T	ENST00000308127.4	+	14	2129	c.1951C>T	c.(1951-1953)Cat>Tat	p.H651Y	SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	651					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCCAGCGTGCATGACAGTGG	0.637													37	47	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38061229	38061229	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr14:38061229A>C	ENST00000250448.2	-	2	821	c.760T>G	c.(760-762)Ttc>Gtc	p.F254V	FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGTTCTCGAACATGTTGCCG	0.692													10	16	---	---	---	---	0	0
APBA2	321	broad.mit.edu	37	15	29393810	29393810	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:29393810G>T	ENST00000558402.1	+	11	1946	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	APBA2_ENST00000558330.1_Missense_Mutation_p.M437I|APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000411764.1_Missense_Mutation_p.M437I|APBA2_ENST00000561069.1_Missense_Mutation_p.M449I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	449	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGAAACCATGATGGACCACG	0.577													3	26	---	---	---	---	0	0
INO80	54617	broad.mit.edu	37	15	41272519	41272519	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:41272519G>T	ENST00000361937.3	-	36	4997	c.4573C>A	c.(4573-4575)Cct>Act	p.P1525T	INO80_ENST00000401393.3_Missense_Mutation_p.P1525T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1525	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGATTCCCAGGAACATTATTT	0.557													29	43	---	---	---	---	0	0
LCMT2	9836	broad.mit.edu	37	15	43620821	43620821	+	Silent	SNP	A	A	G			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:43620821A>G	ENST00000305641.5	-	1	1982	c.1867T>C	c.(1867-1869)Ttg>Ctg	p.L623L	LCMT2_ENST00000544735.1_Silent_p.L202L|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	623					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCAGAGCTCAATCCTGTAGTC	0.443													42	34	---	---	---	---	0	0
VPS33B	26276	broad.mit.edu	37	15	91549633	91549633	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:91549633C>A	ENST00000333371.3	-	11	1174	c.821G>T	c.(820-822)aGc>aTc	p.S274I	VPS33B_ENST00000535843.1_Missense_Mutation_p.S183I|VPS33B_ENST00000535906.1_Missense_Mutation_p.S247I	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	274					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CACCTTCAGGCTCTTGTCAGA	0.562													4	106	---	---	---	---	0	0
CSNK2A2	1459	broad.mit.edu	37	16	58198010	58198010	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr16:58198010C>A	ENST00000262506.3	-	11	1201	c.1018G>T	c.(1018-1020)Gct>Tct	p.A340S	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	340					axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GAAAGCACAGCATTGTCTGCA	0.527													3	40	---	---	---	---	0	0
NETO1	81832	broad.mit.edu	37	18	70461444	70461444	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr18:70461444C>A	ENST00000327305.6	-	6	1204	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L	NETO1_ENST00000299430.2_Missense_Mutation_p.V182L|NETO1_ENST00000583169.1_Missense_Mutation_p.V183L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	183	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATAGACTCCACAATTCCTTCG	0.433													3	58	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9057080	9057080	+	Silent	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:9057080G>T	ENST00000397910.4	-	3	30569	c.30366C>A	c.(30364-30366)atC>atA	p.I10122I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10124	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCCGAGTGGATTGAAACAG	0.463													15	32	---	---	---	---	0	0
TGFB1	7040	broad.mit.edu	37	19	41858655	41858655	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:41858655G>T	ENST00000221930.5	-	1	1161	c.295C>A	c.(295-297)Cct>Act	p.P99T	TMEM91_ENST00000539627.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	99					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TCGGCCTCAGGCTCGGGCTCC	0.731											OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	24	---	---	---	---	0	0
APOC4	346	broad.mit.edu	37	19	45445567	45445567	+	Silent	SNP	G	G	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:45445567G>T	ENST00000419266.2	+	1	73	c.33G>T	c.(31-33)ctG>ctT	p.L11L	APOC4_ENST00000592954.1_Silent_p.L11L|APOC4_ENST00000591600.1_Silent_p.L11L|APOC4-APOC2_ENST00000589057.1_Silent_p.L11L			P55056	APOC4_HUMAN	apolipoprotein C-IV						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		TCCAGGCCCTGCCTGCCCTGT	0.657													3	30	---	---	---	---	0	0
ACTR5	79913	broad.mit.edu	37	20	37400382	37400382	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr20:37400382G>A	ENST00000243903.4	+	9	1784	c.1747G>A	c.(1747-1749)Gcc>Acc	p.A583T		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	583					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GCCGAAGCAGGCCTCCCGCTC	0.587													19	13	---	---	---	---	0	0
SRPX	8406	broad.mit.edu	37	X	38016273	38016273	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chrX:38016273A>T	ENST00000378533.3	-	8	1071	c.965T>A	c.(964-966)gTc>gAc	p.V322D	SRPX_ENST00000538295.1_Missense_Mutation_p.V322D|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000432886.2_Missense_Mutation_p.V263D|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.V309D|SRPX_ENST00000544439.1_Missense_Mutation_p.V302D	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	322					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ACCCACATTGACGTTCATGGC	0.478													7	30	---	---	---	---	0	0
HTR1D	3352	broad.mit.edu	37	1	23520101	23520101	+	Silent	SNP	C	C	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr1:23520101C>T	ENST00000374619.1	-	1	1121	c.612G>A	c.(610-612)ggG>ggA	p.G204G	HTR1D_ENST00000314113.3_Silent_p.G204G	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	204					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGTAGAAGGCCCCACAGGTGG	0.592													3	59	---	---	---	---	0	0
B3GALT2	8707	broad.mit.edu	37	1	193150383	193150383	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr1:193150383G>C	ENST00000367434.4	-	2	1065	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	104					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TGTGGTGACAGGTCTGTGTTA	0.418													12	94	---	---	---	---	0	0
IPO9	55705	broad.mit.edu	37	1	201821311	201821311	+	Silent	SNP	C	C	A			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr1:201821311C>A	ENST00000361565.4	+	5	663	c.594C>A	c.(592-594)acC>acA	p.T198T	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	198					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AGATCTTCACCATGGCTGAGG	0.438													3	28	---	---	---	---	0	0
HSPD1	3329	broad.mit.edu	37	2	198353198	198353198	+	Silent	SNP	A	A	G			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr2:198353198A>G	ENST00000388968.3	-	10	1500	c.1233T>C	c.(1231-1233)gaT>gaC	p.D411D	HSPD1_ENST00000345042.2_Silent_p.D411D	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	411					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCACTTCAACATCACTTGTCC	0.413													8	112	---	---	---	---	0	0
SCN10A	6336	broad.mit.edu	37	3	38835295	38835295	+	Silent	SNP	C	C	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr3:38835295C>T	ENST00000449082.2	-	1	206	c.207G>A	c.(205-207)gaG>gaA	p.E69E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	69					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGCTGGGAGCTCACCATAGA	0.552													19	177	---	---	---	---	0	0
TBCCD1	55171	broad.mit.edu	37	3	186276229	186276229	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr3:186276229C>T	ENST00000424280.1	-	3	948	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	TBCCD1_ENST00000338733.5_Missense_Mutation_p.E157K|TBCCD1_ENST00000446782.1_Missense_Mutation_p.E61K	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	157					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TTAGATTTTTCAGTCAGGTCA	0.383													13	140	---	---	---	---	0	0
AASDH	132949	broad.mit.edu	37	4	57244445	57244445	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr4:57244445T>G	ENST00000205214.6	-	4	717	c.537A>C	c.(535-537)aaA>aaC	p.K179N	AASDH_ENST00000451613.1_Missense_Mutation_p.K179N|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Missense_Mutation_p.K26N|AASDH_ENST00000502617.1_Missense_Mutation_p.K179N|AASDH_ENST00000513376.1_Missense_Mutation_p.K79N	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	179					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTTCTTCTGCTTTTTCTTCAT	0.368													4	58	---	---	---	---	0	0
HSD17B11	51170	broad.mit.edu	37	4	88278430	88278430	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr4:88278430C>A	ENST00000358290.4	-	5	1011		c.e5+1		HSD17B11_ENST00000507286.1_Splice_Site|HSD17B11_ENST00000507518.1_Splice_Site	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11						androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TCTCAACTTACCTTGTACTTG	0.378													3	24	---	---	---	---	0	0
NPY2R	4887	broad.mit.edu	37	4	156136067	156136067	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr4:156136067G>T	ENST00000329476.3	+	2	1465	c.976G>T	c.(976-978)Ggc>Tgc	p.G326C	NPY2R_ENST00000506608.1_Missense_Mutation_p.G326C	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	326					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCTTCTCTATGGCTGGATGAA	0.522													13	111	---	---	---	---	0	0
CREB5	9586	broad.mit.edu	37	7	28527795	28527795	+	Silent	SNP	T	T	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr7:28527795T>C	ENST00000357727.2	+	2	396	c.6T>C	c.(4-6)atT>atC	p.I2I	CREB5_ENST00000396300.2_5'UTR|CREB5_ENST00000396299.2_Intron	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	2					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCCTTCAGATTTATGAGGAAT	0.507													4	94	---	---	---	---	0	0
CLCN1	1180	broad.mit.edu	37	7	143013473	143013473	+	Silent	SNP	C	C	A			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr7:143013473C>A	ENST00000343257.2	+	1	255	c.168C>A	c.(166-168)gtC>gtA	p.V56V		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	56					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCCACAACGTCCACCCCACAC	0.577													5	65	---	---	---	---	0	0
UBR5	51366	broad.mit.edu	37	8	103298847	103298847	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr8:103298847T>C	ENST00000520539.1	-	38	5564		c.e38-2		UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTTGCTCCTAAAATTTTTA	0.333													2	14	---	---	---	---	0	0
DDX31	64794	broad.mit.edu	37	9	135537842	135537842	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr9:135537842T>C	ENST00000372159.3	-	2	782	c.631A>G	c.(631-633)Att>Gtt	p.I211V	DDX31_ENST00000544003.1_Missense_Mutation_p.I115V|DDX31_ENST00000372153.1_Missense_Mutation_p.I211V|DDX31_ENST00000310532.2_Missense_Mutation_p.I211V|DDX31_ENST00000438527.3_Missense_Mutation_p.I82V|DDX31_ENST00000480876.1_5'UTR	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	211						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		AGTTCTGGAATGTCAGGGTTG	0.428													14	73	---	---	---	---	0	0
NAALAD2	10003	broad.mit.edu	37	11	89880613	89880613	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr11:89880613G>A	ENST00000534061.1	+	3	540	c.310G>A	c.(310-312)Gat>Aat	p.D104N	NAALAD2_ENST00000321955.4_Missense_Mutation_p.D104N|NAALAD2_ENST00000375944.3_Missense_Mutation_p.D104N|NAALAD2_ENST00000525171.1_Missense_Mutation_p.D104N	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	104					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGTTCATTATGATGTCCTCTT	0.373													4	60	---	---	---	---	0	0
CD163	9332	broad.mit.edu	37	12	7640092	7640092	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr12:7640092A>C	ENST00000359156.4	-	8	2115	c.1913T>G	c.(1912-1914)tTt>tGt	p.F638C	CD163_ENST00000432237.2_Missense_Mutation_p.F638C|CD163_ENST00000541972.1_Missense_Mutation_p.F626C|CD163_ENST00000396620.3_Missense_Mutation_p.F671C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	638	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCTTTTCCAAAACGTGCTCC	0.488													11	103	---	---	---	---	0	0
TM9SF1	10548	broad.mit.edu	37	14	24661453	24661453	+	Silent	SNP	C	C	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr14:24661453C>T	ENST00000530611.1	-	8	1737	c.1704G>A	c.(1702-1704)gtG>gtA	p.V568V	TM9SF1_ENST00000261789.4_Silent_p.V359V|TM9SF1_ENST00000396854.4_Silent_p.V359V|TM9SF1_ENST00000524835.1_Silent_p.V272V|TM9SF1_ENST00000556387.1_Silent_p.V568V|TM9SF1_ENST00000528669.1_Silent_p.V359V			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	359					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGTGGCTGGACACGTAGCCAG	0.547													11	156	---	---	---	---	0	0
FMN1	342184	broad.mit.edu	37	15	33194152	33194152	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr15:33194152G>T	ENST00000334528.9	-	9	2797	c.2798C>A	c.(2797-2799)tCc>tAc	p.S933Y	FMN1_ENST00000561249.1_Missense_Mutation_p.S1058Y|FMN1_ENST00000559047.1_Missense_Mutation_p.S1156Y	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1156	FH1.|Pro-rich.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTGTGCAAGGAGGTGATACC	0.398													3	34	---	---	---	---	0	0
ZNF770	54989	broad.mit.edu	37	15	35274087	35274087	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr15:35274087G>C	ENST00000356321.4	-	3	1893	c.1549C>G	c.(1549-1551)Cac>Gac	p.H517D		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CTTTTTAAGTGAGCTGACTGT	0.343													3	50	---	---	---	---	0	0
LTK	4058	broad.mit.edu	37	15	41804906	41804906	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr15:41804906G>A	ENST00000263800.6	-	3	454	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	LTK_ENST00000453182.2_Splice_Site_p.L120L|LTK_ENST00000355166.5_Splice_Site_p.L120L|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	120					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGCACTTACAGATACTGGCCA	0.667										TSP Lung(18;0.14)			4	16	---	---	---	---	0	0
ENTHD2	146705	broad.mit.edu	37	17	79207240	79207240	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr17:79207240C>A	ENST00000374769.2	-	7	539	c.62G>T	c.(61-63)gGc>gTc	p.G21V	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.G173V					ENTH domain containing 2																		ACCCGTGCGGCCGTGTTCCTT	0.687													3	31	---	---	---	---	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675491	7675491	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr19:7675491C>T	ENST00000446248.2	+	8	1072	c.971C>T	c.(970-972)cCg>cTg	p.P324L	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P297L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	297					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TACGTCCCACCGCCACTCAAG	0.667													12	242	---	---	---	---	0	0
NWD1	284434	broad.mit.edu	37	19	16861005	16861005	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr19:16861005G>C	ENST00000524140.2	+	6	1970	c.1552G>C	c.(1552-1554)Gtg>Ctg	p.V518L	NWD1_ENST00000552788.1_Missense_Mutation_p.V518L|NWD1_ENST00000523826.1_Missense_Mutation_p.V312L|NWD1_ENST00000339803.6_Missense_Mutation_p.V383L|NWD1_ENST00000379808.3_Missense_Mutation_p.V518L|NWD1_ENST00000549814.1_Missense_Mutation_p.V518L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	518	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTGAGCCCGGTGCACACAGA	0.632													4	101	---	---	---	---	0	0
RNF207	388591	broad.mit.edu	37	1	6270283	6270283	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr1:6270283C>G	ENST00000377939.4	+	9	928	c.801C>G	c.(799-801)agC>agG	p.S267R	RNF207_ENST00000377948.2_Splice_Site_p.S40R	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	267						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCTCCCCCAGCCAATACGAAG	0.667													16	44	---	---	---	---	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129463	248129463	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr1:248129463C>A	ENST00000366480.3	+	1	929	c.830C>A	c.(829-831)cCa>cAa	p.P277Q	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TACACAAGGCCACACTCCTTG	0.483													3	42	---	---	---	---	0	0
ZNF197	10168	broad.mit.edu	37	3	44684197	44684197	+	Silent	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr3:44684197C>T	ENST00000396058.1	+	5	1742	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.L525L|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	525					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGAAGAGCCTCATTCTGCACC	0.423													17	101	---	---	---	---	0	0
QARS	5859	broad.mit.edu	37	3	49140801	49140801	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr3:49140801T>C	ENST00000306125.6	-	5	830	c.493A>G	c.(493-495)Atc>Gtc	p.I165V	QARS_ENST00000420147.2_Missense_Mutation_p.I183V|QARS_ENST00000414533.1_Missense_Mutation_p.I154V			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	165					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TCATTCTTGATCATTTTGCCA	0.507													14	84	---	---	---	---	0	0
NOP16	51491	broad.mit.edu	37	5	175815433	175815433	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr5:175815433C>G	ENST00000389158.5	-	1	543		c.e1+1		NOP16_ENST00000510123.1_Splice_Site|NOP16_ENST00000507413.1_Splice_Site|NOP16_ENST00000509257.1_Splice_Site			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein							nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCCCCTCACCATTCGATCC	0.642													20	88	---	---	---	---	0	0
COL12A1	1303	broad.mit.edu	37	6	75860932	75860932	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr6:75860932C>T	ENST00000322507.8	-	21	4381	c.4072G>A	c.(4072-4074)Gtg>Atg	p.V1358M	COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1358	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAATCTGCCACATTGTATGCA	0.363													25	82	---	---	---	---	0	0
UFL1	23376	broad.mit.edu	37	6	96988523	96988523	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr6:96988523A>G	ENST00000369278.4	+	11	1337	c.1271A>G	c.(1270-1272)aAa>aGa	p.K424R		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	424					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										CGAAGAAGGAAAGCAACAGGT	0.328													3	13	---	---	---	---	0	0
RP1	6101	broad.mit.edu	37	8	55542393	55542393	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr8:55542393C>T	ENST00000220676.1	+	4	6099	c.5951C>T	c.(5950-5952)gCc>gTc	p.A1984V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1984					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTGATAATGCCATTGGTGAT	0.308													6	19	---	---	---	---	0	0
MLLT3	4300	broad.mit.edu	37	9	20448194	20448194	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr9:20448194T>C	ENST00000380338.4	-	4	633	c.347A>G	c.(346-348)cAc>cGc	p.H116R	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ACAGCGGAGGTGATTCACTGG	0.438			T	MLL	ALL								25	109	---	---	---	---	0	0
HSPA12A	259217	broad.mit.edu	37	10	118466766	118466766	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr10:118466766G>T	ENST00000369209.3	-	2	175	c.71C>A	c.(70-72)cCa>cAa	p.P24Q		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	24							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ACTCCGGGCTGGAGATGAATA	0.522													3	20	---	---	---	---	0	0
MOAP1	64112	broad.mit.edu	37	14	93649656	93649656	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:93649656A>C	ENST00000556883.1	-	2	1416	c.932T>G	c.(931-933)cTt>cGt	p.L311R	MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	311					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tggcagattaagctctctgcg	0.517													16	97	---	---	---	---	0	0
TRIP10	9322	broad.mit.edu	37	19	6743805	6743805	+	Silent	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr19:6743805C>T	ENST00000600428.1	+	7	922	c.276C>T	c.(274-276)gaC>gaT	p.D92D	TRIP10_ENST00000596758.1_Silent_p.D200D|TRIP10_ENST00000313285.8_Silent_p.D200D|TRIP10_ENST00000313244.9_Silent_p.D200D			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	200	Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCAACCGAGACCAAGCCCACT	0.507													19	72	---	---	---	---	0	0
BACE2	25825	broad.mit.edu	37	21	42615330	42615330	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr21:42615330T>A	ENST00000347667.5	+	5	1238	c.775T>A	c.(775-777)Tat>Aat	p.Y259N	BACE2_ENST00000330333.6_Missense_Mutation_p.Y259N|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259N	NM_138991.1	NP_620476.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				ACCAAGTTTGTATAAAGGAGA	0.388													8	39	---	---	---	---	0	0
CLCN4	0	broad.mit.edu	37	X	10176202	10176202	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chrX:10176202G>A	ENST00000380833.4	+	9	1352	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	CLCN4_ENST00000421085.2_Missense_Mutation_p.V227M|CLCN4_ENST00000380829.1_Missense_Mutation_p.V321M	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	321						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCTTTTATGTGGAATACCA	0.542													37	60	---	---	---	---	0	0
MED12	9968	broad.mit.edu	37	X	70348454	70348454	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chrX:70348454G>T	ENST00000333646.6	+	24	3560	c.3361G>T	c.(3361-3363)Gac>Tac	p.D1121Y	MED12_ENST00000374080.3_Missense_Mutation_p.D1121Y|MED12_ENST00000374102.1_Missense_Mutation_p.D1121Y	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1121					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCAGGTCAGTGACCTATCTTT	0.532			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24	---	---	---	---	0	0
OR2M3	127062	broad.mit.edu	37	1	248366998	248366998	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:248366998C>T	ENST00000456743.1	+	1	667	c.629C>T	c.(628-630)cCt>cTt	p.P210L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGTTTTCCCTGTTGCAATC	0.418													49	351	---	---	---	---	0	0
MORC1	27136	broad.mit.edu	37	3	108819312	108819312	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr3:108819312C>T	ENST00000232603.5	-	5	348	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	MORC1_ENST00000483760.1_Missense_Mutation_p.R89Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	89					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGTTGACAGCCGTTTTTTGGA	0.398													3	147	---	---	---	---	0	0
RNF8	9025	broad.mit.edu	37	6	37336290	37336290	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr6:37336290C>T	ENST00000373479.4	+	3	464	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.R91C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	91	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAACAGAGCGCGTCTGGAACC	0.423													3	139	---	---	---	---	0	0
COL12A1	1303	broad.mit.edu	37	6	75855959	75855959	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr6:75855959C>A	ENST00000322507.8	-	24	4728	c.4419G>T	c.(4417-4419)ttG>ttT	p.L1473F	COL12A1_ENST00000416123.2_Splice_Site_p.L1473F|COL12A1_ENST00000483888.2_Splice_Site_p.L1473F|COL12A1_ENST00000345356.6_Splice_Site_p.L309F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1473					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGCACTGGCACTTCCAAAA	0.418													4	26	---	---	---	---	0	0
CACNA2D1	781	broad.mit.edu	37	7	81591292	81591292	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr7:81591292A>C	ENST00000356860.3	-	36	3222	c.2884T>G	c.(2884-2886)Tgc>Ggc	p.C962G	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C174G|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.C974G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	974						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCAGTAATGCAGCTCTGCTTG	0.448													10	57	---	---	---	---	0	0
MMP16	4325	broad.mit.edu	37	8	89128877	89128877	+	Silent	SNP	C	C	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr8:89128877C>T	ENST00000286614.6	-	6	1223	c.942G>A	c.(940-942)ccG>ccA	p.P314P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	314					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.P314P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTGGGTCAGCCGGAGGAATAG	0.537													22	179	---	---	---	---	0	0
KIF11	3832	broad.mit.edu	37	10	94405250	94405250	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr10:94405250C>T	ENST00000260731.3	+	18	2488	c.2398C>T	c.(2398-2400)Cac>Tac	p.H800Y		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	800					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCTGTGAAACACTCTGATAA	0.353													4	46	---	---	---	---	0	0
OR4K14	122740	broad.mit.edu	37	14	20482441	20482441	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr14:20482441G>C	ENST00000305045.2	-	1	911	c.912C>G	c.(910-912)aaC>aaG	p.N304K		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCACCCGTCGGTTTTGCAGTT	0.358													5	142	---	---	---	---	0	0
USP50	373509	broad.mit.edu	37	15	50833426	50833426	+	Silent	SNP	T	T	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr15:50833426T>C	ENST00000532404.1	-	4	653	c.480A>G	c.(478-480)ggA>ggG	p.G160G	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	160					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TCTGAGTAGATCCTTTCTCAT	0.393													3	75	---	---	---	---	0	0
WDR83	84292	broad.mit.edu	37	19	12780686	12780686	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:12780686G>A	ENST00000418543.3	+	3	431	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	WDR83_ENST00000242796.4_Missense_Mutation_p.V28M|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	28					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						GCAGGGGGCAGTGCGAGCCGT	0.637													3	137	---	---	---	---	0	0
TRPM4	54795	broad.mit.edu	37	19	49671826	49671826	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:49671826G>A	ENST00000252826.5	+	6	755	c.629G>A	c.(628-630)aGg>aAg	p.R210K	TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.R210K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	210					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTCCCTGCGAGGTACCGGTGG	0.647													3	94	---	---	---	---	0	0
SON	6651	broad.mit.edu	37	21	34931659	34931659	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr21:34931659A>C	ENST00000356577.4	+	5	6920	c.6445A>C	c.(6445-6447)Aaa>Caa	p.K2149Q	SON_ENST00000290239.6_Missense_Mutation_p.K2149Q|SON_ENST00000381692.2_Missense_Mutation_p.K177Q|SON_ENST00000300278.4_Missense_Mutation_p.K2149Q	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2149					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CAGTGAACCCAAACCTATTTT	0.323													12	95	---	---	---	---	0	0
TMPRSS2	0	broad.mit.edu	37	21	42843813	42843813	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr21:42843813A>T	ENST00000398585.3	-	10	1166	c.1106T>A	c.(1105-1107)aTt>aAt	p.I369N	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.I332N|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.I332N	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	332	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TGGATGAGAAATCACTTTTTC	0.458			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								3	56	---	---	---	---	0	0
DPYD	1806	broad.mit.edu	37	1	97564055	97564055	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:97564055G>A	ENST00000370192.3	-	21	2856	c.2756C>T	c.(2755-2757)cCt>cTt	p.P919L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	919					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTTGATGGTAGGAATAGGCCT	0.299													3	121	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179637910	179637910	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr2:179637910A>G	ENST00000589042.1	-	33	8005	c.7781T>C	c.(7780-7782)aTg>aCg	p.M2594T	TTN_ENST00000591111.1_Missense_Mutation_p.M2594T|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M2548T|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2328							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTCATCATATTTAGAAC	0.313													5	54	---	---	---	---	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22880193	22880193	+	Silent	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr8:22880193G>T	ENST00000276431.4	-	9	1598	c.1314C>A	c.(1312-1314)gcC>gcA	p.A438A	TNFRSF10B_ENST00000347739.3_Silent_p.A409A|TNFRSF10B_ENST00000542226.1_Silent_p.A258A	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	438					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTTAGGACATGGCAGAGTCTG	0.478													3	41	---	---	---	---	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779562	133779562	+	Silent	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr9:133779562G>A	ENST00000372338.4	-	7	1517	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	FIBCD1_ENST00000372337.2_Silent_p.R267R|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.R425R	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	425	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTGCGCACCGCGCAGGTACT	0.627													21	88	---	---	---	---	0	0
STK32C	282974	broad.mit.edu	37	10	134040390	134040390	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:134040390T>C	ENST00000368622.1	-	4	583	c.202A>G	c.(202-204)Aac>Gac	p.N68D	STK32C_ENST00000368625.4_Missense_Mutation_p.N198D			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	185							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AACTGCACGTTCTGCTGCAGG	0.612													7	65	---	---	---	---	0	0
PTPRO	5800	broad.mit.edu	37	12	15742395	15742395	+	Silent	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:15742395C>T	ENST00000281171.4	+	25	3747	c.3417C>T	c.(3415-3417)ggC>ggT	p.G1139G	PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000348962.2_Silent_p.G1111G|PTPRO_ENST00000445537.2_Silent_p.G328G|PTPRO_ENST00000542557.1_Silent_p.G300G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1139	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCAGTGCTGGCGTGGGACGGA	0.453													7	160	---	---	---	---	0	0
ANO4	121601	broad.mit.edu	37	12	101381393	101381393	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:101381393G>T	ENST00000392979.3	+	7	935	c.574G>T	c.(574-576)Gac>Tac	p.D192Y	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.D227Y	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	227						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GACACTGCCAGACCTGGAGGA	0.498										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	151	---	---	---	---	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78317633	78317633	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr15:78317633C>T	ENST00000409931.3	-	5	1125	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.E352K			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	352						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTTAACTGTTCCAGCTCTTCC	0.547													9	76	---	---	---	---	0	0
SUPT6H	6830	broad.mit.edu	37	17	27022376	27022376	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:27022376A>G	ENST00000314616.6	+	29	4064	c.3781A>G	c.(3781-3783)Atg>Gtg	p.M1261V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1261V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1261	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ctaGGTGGGAATGACTGTTCA	0.488													10	29	---	---	---	---	0	0
SYMPK	8189	broad.mit.edu	37	19	46334800	46334800	+	Silent	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:46334800C>T	ENST00000245934.7	-	12	1684	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	480					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCTTCACCACCTTCTCCTCCT	0.622													3	17	---	---	---	---	0	0
ZNF616	90317	broad.mit.edu	37	19	52618945	52618945	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:52618945T>C	ENST00000600228.1	-	4	1733	c.1472A>G	c.(1471-1473)aAa>aGa	p.K491R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTGTAAGGTTTCTCTCCAGT	0.403													3	105	---	---	---	---	0	0
PTPRA	0	broad.mit.edu	37	20	3005196	3005196	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:3005196G>A	ENST00000216877.6	+	16	1916	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E526K|PTPRA_ENST00000380393.3_Missense_Mutation_p.E515K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E506K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E515K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	515					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACCTCTCTAGAAACCCACCT	0.433													15	116	---	---	---	---	0	0
ATP9A	10079	broad.mit.edu	37	20	50307319	50307319	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:50307319G>A	ENST00000338821.5	-	8	946	c.682C>T	c.(682-684)Cca>Tca	p.P228S	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	228					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAATATTTGGCTCTTCTGCG	0.463													6	155	---	---	---	---	0	0
SERBP1	26135	broad.mit.edu	37	1	67895763	67895763	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:67895763G>A	ENST00000370994.4	-	1	335	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SERBP1_ENST00000370990.5_Missense_Mutation_p.S74F|SERBP1_ENST00000361219.6_Missense_Mutation_p.S74F|SERBP1_ENST00000370995.2_Missense_Mutation_p.S74F	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	74					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GTCTTTCTGGGACTCCTTGCG	0.667													14	86	---	---	---	---	0	0
ABCA4	24	broad.mit.edu	37	1	94526101	94526101	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:94526101A>G	ENST00000370225.3	-	14	2238	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	ABCA4_ENST00000535735.1_Missense_Mutation_p.F718L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	718					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCATGATGAATATCGTCAGG	0.468													9	54	---	---	---	---	0	0
PRKD3	23683	broad.mit.edu	37	2	37516516	37516516	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:37516516C>A	ENST00000379066.1	-	5	1462	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S	PRKD3_ENST00000234179.2_Missense_Mutation_p.A234S			O94806	KPCD3_HUMAN	protein kinase D3	234					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTGGGAAGGGCTACATATTCA	0.418													3	68	---	---	---	---	0	0
DHX57	90957	broad.mit.edu	37	2	39053767	39053767	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:39053767G>C	ENST00000295373.6	-	15	2830	c.2704C>G	c.(2704-2706)Cct>Gct	p.P902A		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	902	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGCAGGAGGTTTTACAAAC	0.383													3	55	---	---	---	---	0	0
IGKV1D-16	0	broad.mit.edu	37	2	90139131	90139131	+	RNA	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:90139131C>T	ENST00000492446.1	+	0	54																											TCGCTCAGCTCCTGGGGCTCC	0.522													4	269	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179592402	179592402	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:179592402A>C	ENST00000589042.1	-	68	20127	c.19903T>G	c.(19903-19905)Tca>Gca	p.S6635A	TTN_ENST00000342992.6_Missense_Mutation_p.S5391A|TTN_ENST00000591111.1_Missense_Mutation_p.S6318A|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6318	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATCCACTGAGTAGAGATTT	0.403													13	220	---	---	---	---	0	0
WNT6	7475	broad.mit.edu	37	2	219735816	219735816	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:219735816C>T	ENST00000233948.3	+	2	365	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	50					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGCCGGGCGGCAGGCCGA	0.667													6	123	---	---	---	---	0	0
CNOT10	25904	broad.mit.edu	37	3	32800949	32800949	+	Splice_Site	SNP	G	G	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:32800949G>C	ENST00000328834.5	+	14	1911		c.e14-1		CNOT10_ENST00000454516.2_Splice_Site|CNOT10_ENST00000331889.6_Splice_Site|CNOT10_ENST00000538368.1_Splice_Site	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10						nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TTGTGTTATAGGTGCTCCATA	0.428													18	491	---	---	---	---	0	0
FOXP1	27086	broad.mit.edu	37	3	71096126	71096126	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:71096126G>A	ENST00000318789.4	-	10	1156	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q213*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q135*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q211*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	211	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408).	cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGGGCAGGCTGCCCGGGCTGA	0.532			T	PAX5	ALL								24	262	---	---	---	---	0	0
FOXP1	27086	broad.mit.edu	37	3	71096127	71096127	+	Silent	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:71096127C>A	ENST00000318789.4	-	10	1155	c.630G>T	c.(628-630)ggG>ggT	p.G210G	FOXP1_ENST00000491238.1_Silent_p.G212G|FOXP1_ENST00000484350.1_Silent_p.G134G|FOXP1_ENST00000498215.1_Silent_p.G210G|FOXP1_ENST00000493089.1_Silent_p.G210G|FOXP1_ENST00000468577.1_Silent_p.G210G|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Silent_p.G210G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	210	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408).	cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGGCAGGCTGCCCGGGCTGAA	0.532			T	PAX5	ALL								25	258	---	---	---	---	0	0
EVC	2121	broad.mit.edu	37	4	5735120	5735120	+	Silent	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:5735120C>T	ENST00000382674.2	+	5	844	c.660C>T	c.(658-660)gaC>gaT	p.D220D	EVC_ENST00000264956.6_Silent_p.D220D|EVC_ENST00000509451.1_Silent_p.D220D			P57679	EVC_HUMAN	Ellis van Creveld syndrome	220					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACTTAAAAGACCTGCTGCATT	0.468													63	281	---	---	---	---	0	0
PPM1K	152926	broad.mit.edu	37	4	89183862	89183862	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:89183862G>A	ENST00000608933.1	-	7	1393	c.1004C>T	c.(1003-1005)aCt>aTt	p.T335I	PPM1K_ENST00000508256.1_Missense_Mutation_p.T116I|PPM1K_ENST00000295908.7_Missense_Mutation_p.T290I	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K		PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GTTATCCTCAGTACCGTACTG	0.423													10	39	---	---	---	---	0	0
ATOH1	474	broad.mit.edu	37	4	94750937	94750937	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:94750937T>A	ENST00000306011.3	+	1	896	c.860T>A	c.(859-861)gTg>gAg	p.V287E		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	287					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GGGTACTCGGTGCAGCTGGAC	0.647													7	89	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126242060	126242060	+	Silent	SNP	C	C	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:126242060C>G	ENST00000394329.3	+	1	4507	c.4494C>G	c.(4492-4494)gcC>gcG	p.A1498A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1498	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTAAAAGCCAATGATCAAG	0.383													22	99	---	---	---	---	0	0
TNXB	7148	broad.mit.edu	37	6	32010244	32010244	+	Silent	SNP	C	C	G	rs149810124	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:32010244C>G	ENST00000375244.3	-	40	12399	c.12198G>C	c.(12196-12198)ggG>ggC	p.G4066G	TNXB_ENST00000375247.2_Silent_p.G4064G|TNXB_ENST00000451343.1_Silent_p.G495G			P22105	TENX_HUMAN	tenascin XB	4111	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCAGCCGCCCCCATCAGTCT	0.652													5	71	---	---	---	---	0	0
POM121	9883	broad.mit.edu	37	7	72409217	72409217	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:72409217T>G	ENST00000395270.1	+	9	1610	c.569T>G	c.(568-570)aTa>aGa	p.I190R	POM121_ENST00000257622.4_Missense_Mutation_p.I190R|POM121_ENST00000358357.3_Missense_Mutation_p.I190R|POM121_ENST00000446813.1_Missense_Mutation_p.I190R|POM121_ENST00000434423.2_Missense_Mutation_p.I455R	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	455	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCAAAGAAAATAAGGTACTTG	0.537													14	111	---	---	---	---	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607230	84607230	+	Silent	SNP	T	T	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:84607230T>C	ENST00000344803.2	+	4	1892	c.1845T>C	c.(1843-1845)tcT>tcC	p.S615S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AGGCACGGTCTCTTTTGCCAT	0.478													4	81	---	---	---	---	0	0
DPP7	29952	broad.mit.edu	37	9	140007905	140007905	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:140007905G>A	ENST00000371579.2	-	5	533	c.529C>T	c.(529-531)Cac>Tac	p.H177Y		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	177						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GCCACCAGGTGGGGATACTTC	0.642													3	37	---	---	---	---	0	0
TMX2	51075	broad.mit.edu	37	11	57506220	57506220	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:57506220A>G	ENST00000278422.4	+	5	538	c.526A>G	c.(526-528)Atc>Gtc	p.I176V	TMX2_ENST00000378312.4_Missense_Mutation_p.I138V|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	176	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						ATTTGCCCCTATCTATGCTGA	0.473													32	155	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92088411	92088411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:92088411G>A	ENST00000298047.6	+	1	3150	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	FAT3_ENST00000525166.1_Missense_Mutation_p.D895N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1045N|FAT3_ENST00000541502.1_Missense_Mutation_p.D1045N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1045	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATTTCCCAGACTTTGCTGT	0.498										TCGA Ovarian(4;0.039)			4	53	---	---	---	---	0	0
SLC12A4	6560	broad.mit.edu	37	16	67988583	67988583	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:67988583G>C	ENST00000422611.2	-	5	683	c.644C>G	c.(643-645)gCa>gGa	p.A215G	SLC12A4_ENST00000338335.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A213G|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A207G|SLC12A4_ENST00000572037.1_Missense_Mutation_p.A165G|SLC12A4_ENST00000316341.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A182G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	213					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTACATGGCTGCTGCGAATGT	0.562													5	86	---	---	---	---	0	0
HPN	3249	broad.mit.edu	37	19	35556886	35556886	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:35556886G>A	ENST00000262626.2	+	12	1990	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	HPN_ENST00000597419.1_Missense_Mutation_p.V231I|HPN_ENST00000392226.1_Missense_Mutation_p.V389I|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	389	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GAAGCCAGGCGTCTACACCAA	0.587													4	169	---	---	---	---	0	0
ZNF610	162963	broad.mit.edu	37	19	52868989	52868989	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:52868989C>A	ENST00000601151.1	+	5	681	c.229C>A	c.(229-231)Cct>Act	p.P77T	ZNF610_ENST00000403906.3_Missense_Mutation_p.P120T|ZNF610_ENST00000321287.8_Missense_Mutation_p.P120T|ZNF610_ENST00000327920.8_Missense_Mutation_p.P120T	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	120	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGAAAACAAGCCTATTAAAAA	0.403													5	148	---	---	---	---	0	0
FAM211B	388886	broad.mit.edu	37	22	24982300	24982300	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:24982300C>A	ENST00000318753.8	-	4	525	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	168																	ATGTGTTGCACGTCCTGTGTC	0.617													7	355	---	---	---	---	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887550	12887550	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:12887550C>T	ENST00000535591.1	-	3	502	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	103										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCTGCCGTTCTCTCATCCTT	0.502													66	244	---	---	---	---	0	0
GBP4	115361	broad.mit.edu	37	1	89652043	89652043	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:89652043A>T	ENST00000355754.6	-	10	1777	c.1680T>A	c.(1678-1680)caT>caA	p.H560Q		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	560						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCAGCCTTTCATGCTCTCTGA	0.478													19	78	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	186136032	186136032	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:186136032G>A	ENST00000271588.4	+	100	15761	c.15532G>A	c.(15532-15534)Gga>Aga	p.G5178R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G5178R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5178	EGF-like 2; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTCCGTTGTGGAAGTGGCTT	0.453													17	57	---	---	---	---	0	0
ALPI	248	broad.mit.edu	37	2	233323610	233323610	+	Silent	SNP	G	G	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr2:233323610G>A	ENST00000295463.3	+	11	1418	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	447					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGCCCCTGTCGTCCGAGACCC	0.692													4	15	---	---	---	---	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146412	70146412	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr4:70146412A>G	ENST00000335568.5	+	1	196	c.194A>G	c.(193-195)gAt>gGt	p.D65G	UGT2B28_ENST00000511240.1_Missense_Mutation_p.D65G	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	65					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATTCTTTTTGATCCCAATGAC	0.383													2	4	---	---	---	---	0	0
TRPC3	7222	broad.mit.edu	37	4	122824123	122824123	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr4:122824123C>A	ENST00000264811.5	-	8	2546	c.2128G>T	c.(2128-2130)Gtt>Ttt	p.V710F	TRPC3_ENST00000513531.1_Missense_Mutation_p.V655F|TRPC3_ENST00000379645.3_Missense_Mutation_p.V783F	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	698					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGACTAGGAACTAGACTGAAA	0.378													13	56	---	---	---	---	0	0
OFCC1	266553	broad.mit.edu	37	6	9908812	9908812	+	Silent	SNP	A	A	G			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr6:9908812A>G	ENST00000316020.6	-	5	485	c.486T>C	c.(484-486)ttT>ttC	p.F162F	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TCAGTGGGTCAAAGTAATTTC	0.393													22	69	---	---	---	---	0	0
VARS2	57176	broad.mit.edu	37	6	30884980	30884980	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr6:30884980A>T	ENST00000321897.5	+	8	1484	c.852A>T	c.(850-852)agA>agT	p.R284S	VARS2_ENST00000416670.2_Missense_Mutation_p.R284S|VARS2_ENST00000542001.1_Missense_Mutation_p.R144S|VARS2_ENST00000541562.1_Missense_Mutation_p.R314S			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	284					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GTGCTTTAAGATCAGCCATCT	0.537													46	96	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113308118	113308118	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr8:113308118G>A	ENST00000297405.5	-	54	8802	c.8558C>T	c.(8557-8559)tCa>tTa	p.S2853L	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2684L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2813L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2783L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2853	Sushi 18.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCCTCACTGAAGAACCAAT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	21	---	---	---	---	0	0
KMT2D	8085	broad.mit.edu	37	12	49432198	49432198	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr12:49432198G>C	ENST00000301067.7	-	34	8940	c.8941C>G	c.(8941-8943)Ctg>Gtg	p.L2981V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCAGCTTCCAGGGCCAGAGGA	0.602													4	61	---	---	---	---	0	0
HOXC4	3221	broad.mit.edu	37	12	54448666	54448666	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr12:54448666C>T	ENST00000430889.2	+	2	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	HOXC4_ENST00000609810.1_Missense_Mutation_p.R158C|HOXC4_ENST00000303406.4_Missense_Mutation_p.R158C	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	158			R -> L (in dbSNP:rs11835301).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGAACCCAAGCGCTCGAGGAC	0.577													5	32	---	---	---	---	0	0
THSD4	79875	broad.mit.edu	37	15	71535425	71535425	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr15:71535425G>T	ENST00000355327.3	+	5	1036	c.902G>T	c.(901-903)tGc>tTc	p.C301F	THSD4_ENST00000261862.6_Missense_Mutation_p.C301F			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	301	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACAAGCTGTGCAACACCAAC	0.542													10	39	---	---	---	---	0	0
ZFPM1	161882	broad.mit.edu	37	16	88598619	88598619	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr16:88598619G>A	ENST00000319555.3	+	7	1244	c.922G>A	c.(922-924)Gag>Aag	p.E308K		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	308					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGCTCCCTGGAGATCCACAT	0.706													12	31	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr17:47696425A>G	ENST00000393331.3	-	7	868	c.398T>C	c.(397-399)tTc>tCc	p.F133S	SPOP_ENST00000503676.1_Missense_Mutation_p.F133S|SPOP_ENST00000347630.2_Missense_Mutation_p.F133S|SPOP_ENST00000393328.2_Missense_Mutation_p.F133S|SPOP_ENST00000504102.1_Missense_Mutation_p.F133S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)			43	95	---	---	---	---	0	0
APPBP2	10513	broad.mit.edu	37	17	58529353	58529353	+	Silent	SNP	A	A	G			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr17:58529353A>G	ENST00000083182.3	-	12	1679	c.1392T>C	c.(1390-1392)ggT>ggC	p.G464G		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	464					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AATCTTCTTGACCAAGAAGTT	0.323													4	61	---	---	---	---	0	0
TANC2	26115	broad.mit.edu	37	17	61432335	61432335	+	Silent	SNP	C	C	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr17:61432335C>A	ENST00000424789.2	+	12	1948	c.1944C>A	c.(1942-1944)acC>acA	p.T648T	TANC2_ENST00000389520.4_Silent_p.T648T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	648							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATCTCAAGACCCTCAGTCAAG	0.398													33	110	---	---	---	---	0	0
ZNF559	84527	broad.mit.edu	37	19	9453237	9453237	+	Silent	SNP	A	A	G			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:9453237A>G	ENST00000393883.2	+	6	1758	c.1110A>G	c.(1108-1110)gtA>gtG	p.V370V	ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000603380.1_Silent_p.V370V|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Silent_p.V290V|ZNF559_ENST00000587557.1_Silent_p.V434V|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000605471.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATCTTACTGTACATATGAGAA	0.388													4	44	---	---	---	---	0	0
ZNF799	90576	broad.mit.edu	37	19	12501393	12501393	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:12501393T>C	ENST00000419318.1	-	4	2472	c.1723A>G	c.(1723-1725)Aaa>Gaa	p.K575E	ZNF799_ENST00000430385.3_Missense_Mutation_p.K607E|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGAGTCTTTTTATGTCTATGC	0.398													31	91	---	---	---	---	0	0
MYO9B	4650	broad.mit.edu	37	19	17311626	17311626	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:17311626C>A	ENST00000595618.1	+	26	4703	c.4551C>A	c.(4549-4551)ttC>ttA	p.F1517L	MYO9B_ENST00000594824.1_Missense_Mutation_p.F1517L|MYO9B_ENST00000397274.2_Missense_Mutation_p.F1517L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1517	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGGACGAGTTCCTGCTCAACA	0.552													20	53	---	---	---	---	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570989	47570989	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:47570989C>A	ENST00000253048.5	-	15	2573	c.2536G>T	c.(2536-2538)Gac>Tac	p.D846Y	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	846							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGCGGGGGTCCCCCAGCCCA	0.682													6	13	---	---	---	---	0	0
MTMR3	8897	broad.mit.edu	37	22	30416351	30416351	+	Silent	SNP	G	G	A			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr22:30416351G>A	ENST00000333027.3	+	17	3031	c.2703G>A	c.(2701-2703)agG>agA	p.R901R	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Silent_p.R901R|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Silent_p.R901R|MTMR3_ENST00000323630.5_Silent_p.R765R|MTMR3_ENST00000406629.1_Silent_p.R901R	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	901					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGGTGCATAGGACTTCCCTTG	0.562													17	51	---	---	---	---	0	0
PI4KB	5298	broad.mit.edu	37	1	151278805	151278805	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:151278805C>A	ENST00000368875.2	-	6	1833	c.1253G>T	c.(1252-1254)tGt>tTt	p.C418F	PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F|PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F|PI4KB_ENST00000368873.1_Missense_Mutation_p.C406F	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	406					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGTTTTCACATTCAAGGAC	0.493													4	93	---	---	---	---	0	0
SOX13	9580	broad.mit.edu	37	1	204082093	204082093	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:204082093G>A	ENST00000367204.1	+	2	159	c.50G>A	c.(49-51)gGc>gAc	p.G17D	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	17					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGGCGTTGGCACCATGGTG	0.612													4	88	---	---	---	---	0	0
ADCY3	109	broad.mit.edu	37	2	25046161	25046161	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:25046161C>T	ENST00000260600.5	-	17	3651	c.2800G>A	c.(2800-2802)Gac>Aac	p.D934N	ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	934					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTGTAGAAGTCAGCAAAGTTG	0.473													4	103	---	---	---	---	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88913315	88913315	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:88913315T>C	ENST00000303236.3	-	2	666	c.365A>G	c.(364-366)aAt>aGt	p.N122S	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	122					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTTACCATGATTTTCAGGATC	0.358													94	128	---	---	---	---	0	0
ZAP70	7535	broad.mit.edu	37	2	98351892	98351892	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:98351892C>T	ENST00000264972.5	+	10	1477	c.1262C>T	c.(1261-1263)cCg>cTg	p.P421L	ZAP70_ENST00000442208.1_Missense_Mutation_p.P295L|ZAP70_ENST00000451498.2_Missense_Mutation_p.P114L|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	421	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.P421Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGGGCGGGCCGCTGCACAAG	0.682													5	206	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179592350	179592350	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:179592350A>G	ENST00000589042.1	-	68	20179	c.19955T>C	c.(19954-19956)gTt>gCt	p.V6652A	TTN_ENST00000342992.6_Missense_Mutation_p.V5408A|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V6335A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6335	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCGCTACCAACATCATTGGT	0.408													180	296	---	---	---	---	0	0
AGFG1	3267	broad.mit.edu	37	2	228388627	228388627	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:228388627G>A	ENST00000310078.8	+	4	786	c.526G>A	c.(526-528)Ggc>Agc	p.G176S	AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S|AGFG1_ENST00000409979.2_Missense_Mutation_p.G176S|AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S|AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000486932.1_3'UTR	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1						cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CTTAAATAAGGGCACACCTAG	0.433													23	173	---	---	---	---	0	0
PTPRG	5793	broad.mit.edu	37	3	62142813	62142813	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:62142813A>G	ENST00000474889.1	+	7	1132	c.755A>G	c.(754-756)tAc>tGc	p.Y252C	PTPRG_ENST00000295874.10_Missense_Mutation_p.Y252C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	252	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TATTATCGGTACACAGGTTCC	0.512													7	162	---	---	---	---	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	116	---	---	---	---	0	0
ABCC5	10057	broad.mit.edu	37	3	183667864	183667864	+	Silent	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:183667864G>A	ENST00000334444.6	-	21	3234	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	ABCC5_ENST00000265586.6_Silent_p.I998I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	998	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGAACACCAGGATAACGTTCT	0.507													22	51	---	---	---	---	0	0
SV2C	22987	broad.mit.edu	37	5	75490817	75490817	+	Silent	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:75490817A>G	ENST00000502798.2	+	3	1096	c.654A>G	c.(652-654)aaA>aaG	p.K218K	SV2C_ENST00000322285.7_Silent_p.K218K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	218					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGGGAAGGAAACAGTCTCTTC	0.468													149	249	---	---	---	---	0	0
PCDHGC5	0	broad.mit.edu	37	5	140869501	140869501	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:140869501G>A	ENST00000252087.1	+	1	694	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		232	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTCATCGTGCTGGACAT	0.557													102	154	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100678305	100678305	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:100678305C>T	ENST00000306151.4	+	3	3672	c.3608C>T	c.(3607-3609)aCt>aTt	p.T1203I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1203	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCCTCCAACTGCTGAAGTT	0.517													19	626	---	---	---	---	0	0
ENPP2	0	broad.mit.edu	37	8	120608106	120608106	+	Missense_Mutation	SNP	G	G	A	rs142695308		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:120608106G>A	ENST00000259486.6	-	12	1158	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000427067.2_Intron	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.A370V(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACGAGTTTCCGCAGCATAATG	0.443													19	540	---	---	---	---	0	0
ZFAT	57623	broad.mit.edu	37	8	135614479	135614479	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:135614479T>C	ENST00000520727.1	-	7	1746	c.1447A>G	c.(1447-1449)Aac>Gac	p.N483D	ZFAT_ENST00000523399.1_Missense_Mutation_p.N433D|ZFAT_ENST00000377838.3_Missense_Mutation_p.N495D|ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAGCTCTGGTTGATGGAACTG	0.607													4	118	---	---	---	---	0	0
RECQL4	9401	broad.mit.edu	37	8	145741718	145741718	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:145741718C>T	ENST00000428558.2	-	5	826	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	262					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTTCCATCTCCGCTTCTCGCC	0.672			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				8	85	---	---	---	---	0	0
PC	5091	broad.mit.edu	37	11	66616483	66616483	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:66616483C>A	ENST00000393960.1	-	23	3705	c.3424G>T	c.(3424-3426)Gcc>Tcc	p.A1142S	PC_ENST00000529047.1_Missense_Mutation_p.A262S|PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Missense_Mutation_p.A1142S|PC_ENST00000393958.2_Missense_Mutation_p.A1142S	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	1142	Biotinyl-binding.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATCTTCATGGCACTGAGCACA	0.592													5	211	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92086739	92086739	+	Silent	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:92086739G>A	ENST00000298047.6	+	1	1478	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	FAT3_ENST00000541502.1_Silent_p.V487V|FAT3_ENST00000409404.2_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	487	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGTCCCAGTGGGAACCAGCG	0.418										TCGA Ovarian(4;0.039)			19	43	---	---	---	---	0	0
IFT140	9742	broad.mit.edu	37	16	1576790	1576790	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:1576790C>A	ENST00000426508.2	-	20	2770	c.2407G>T	c.(2407-2409)Gtc>Ttc	p.V803F	IFT140_ENST00000361339.5_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	803										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCTCCCAGACGGCCTCACTG	0.692													3	46	---	---	---	---	0	0
CES4A	283848	broad.mit.edu	37	16	67037031	67037031	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:67037031C>T	ENST00000540947.2	+	6	933	c.749C>T	c.(748-750)gCg>gTg	p.A250V	CES4A_ENST00000398354.1_Missense_Mutation_p.A250V|CES4A_ENST00000535696.1_Missense_Mutation_p.A156V|CES4A_ENST00000338718.4_Missense_Mutation_p.A273V|CES4A_ENST00000326686.5_Missense_Mutation_p.A250V|CES4A_ENST00000541479.1_Missense_Mutation_p.A273V|CES4A_ENST00000540579.1_Missense_Mutation_p.A152V	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	250						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AGTGGCACCGCGTTATTCAGA	0.552													64	37	---	---	---	---	0	0
KIAA0753	9851	broad.mit.edu	37	17	6503779	6503779	+	Splice_Site	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:6503779C>T	ENST00000361413.3	-	13	2368		c.e13-1		KIAA0753_ENST00000542606.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|KIAA0753_ENST00000572370.1_Splice_Site|KIAA0753_ENST00000589033.1_Splice_Site	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753							centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGCAGAAACACTATTTAGAAA	0.383													46	90	---	---	---	---	0	0
SLC4A1	6521	broad.mit.edu	37	17	42340029	42340029	+	Silent	SNP	G	G	A	rs56387601		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:42340029G>A	ENST00000262418.6	-	3	236	c.81C>T	c.(79-81)ccC>ccT	p.P27P	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	27			P -> H (in dbSNP:rs55777403).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTGGGACTCGGGGATGTCTG	0.597													11	27	---	---	---	---	0	0
DNAH17	8632	broad.mit.edu	37	17	76563191	76563191	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:76563191C>T	ENST00000389840.5	-	10	1466	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	DNAH17_ENST00000585328.1_Missense_Mutation_p.V448M					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCCCACGCACGCCCCCAAGC	0.488													15	13	---	---	---	---	0	0
HGS	9146	broad.mit.edu	37	17	79657219	79657219	+	Silent	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:79657219C>A	ENST00000329138.4	+	6	558	c.423C>A	c.(421-423)gtC>gtA	p.V141V		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	141	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGGGCACGTCTTTCCAGAAT	0.607													14	146	---	---	---	---	0	0
TPM4	7171	broad.mit.edu	37	19	16204531	16204531	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:16204531C>G	ENST00000300933.4	+	7	892	c.632C>G	c.(631-633)gCa>gGa	p.A211G	TPM4_ENST00000538887.1_Missense_Mutation_p.A247G|TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000344824.6_Missense_Mutation_p.A247G	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	211					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						AGAACGGTTGCAAAACTGGAA	0.483			T	ALK	ALCL								5	196	---	---	---	---	0	0
CATSPERG	57828	broad.mit.edu	37	19	38852407	38852407	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:38852407T>G	ENST00000409235.3	+	17	2115	c.2000T>G	c.(1999-2001)gTc>gGc	p.V667G	CATSPERG_ENST00000410018.1_Missense_Mutation_p.V627G|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	667					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCGCCGCGCGTCCTGGAGCGC	0.667													5	24	---	---	---	---	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121845	38121845	+	Silent	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr22:38121845C>T	ENST00000406386.3	+	7	3537	c.3282C>T	c.(3280-3282)gcC>gcT	p.A1094A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1094					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CATCAGATGCCGAGCATCAGT	0.652													6	279	---	---	---	---	0	0
KLHL4	0	broad.mit.edu	37	X	86887270	86887270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:86887270T>C	ENST00000373119.4	+	7	1530	c.1385T>C	c.(1384-1386)aTg>aCg	p.M462T	KLHL4_ENST00000373114.4_Missense_Mutation_p.M462T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	462						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTGGCACCATGAATGGCCGT	0.393													3	43	---	---	---	---	0	0
SP100	6672	broad.mit.edu	37	2	231368925	231368925	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr2:231368925A>G	ENST00000264052.5	+	21	2145	c.1790A>G	c.(1789-1791)aAt>aGt	p.N597S	SP100_ENST00000409112.1_Missense_Mutation_p.N597S|SP100_ENST00000340126.4_Missense_Mutation_p.N597S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	597	SAND.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAGATGAAAATATTAATTTT	0.408													5	139	---	---	---	---	0	0
DNAH1	25981	broad.mit.edu	37	3	52420237	52420237	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr3:52420237A>G	ENST00000420323.2	+	55	8948	c.8687A>G	c.(8686-8688)aAt>aGt	p.N2896S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2896	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCAAAGCCAATGAGAAGGCC	0.597													9	54	---	---	---	---	0	0
FAM86EP	0	broad.mit.edu	37	4	3948417	3948417	+	RNA	SNP	C	C	G			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr4:3948417C>G	ENST00000313946.8	-	0	1232																											ACGCCGGCGCCCAGTTCTTTC	0.652													21	53	---	---	---	---	0	0
GABRB1	2560	broad.mit.edu	37	4	47427733	47427733	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr4:47427733C>T	ENST00000295454.3	+	9	1415	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	GABRB1_ENST00000538619.1_Missense_Mutation_p.R305W	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	375					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTGGAAATCCGGAATGAGAC	0.562													8	166	---	---	---	---	0	0
PCDHA12	0	broad.mit.edu	37	5	140256667	140256667	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140256667C>T	ENST00000398631.2	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGACGCC	0.687													7	336	---	---	---	---	0	0
PCDHB6	0	broad.mit.edu	37	5	140531282	140531282	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140531282G>A	ENST00000231136.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		482	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCATCAACGCCCAGGTCAC	0.642													14	529	---	---	---	---	0	0
PCDHB17	0	broad.mit.edu	37	5	140537079	140537079	+	Silent	SNP	C	C	T			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140537079C>T	ENST00000539533.1	+	1	1503	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L																								ACCTGCCCCTCGCCTCCCTGG	0.652													96	266	---	---	---	---	0	0
PCDHB16	0	broad.mit.edu	37	5	140563584	140563584	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140563584G>A	ENST00000361016.2	+	1	2605	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		484	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A484T(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCACCAACGCCCAGGTCAC	0.652													82	349	---	---	---	---	0	0
ZNF165	7718	broad.mit.edu	37	6	28057219	28057219	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr6:28057219A>C	ENST00000377325.1	+	4	1985	c.1429A>C	c.(1429-1431)Att>Ctt	p.I477L		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	477					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACACCAGAGAATTCACATGAG	0.333													30	67	---	---	---	---	0	0
FOXP2	93986	broad.mit.edu	37	7	114299484	114299484	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr7:114299484G>C	ENST00000408937.3	+	13	1991	c.1617G>C	c.(1615-1617)agG>agC	p.R539S	FOXP2_ENST00000350908.4_Missense_Mutation_p.R514S|FOXP2_ENST00000393498.2_Missense_Mutation_p.R493S|FOXP2_ENST00000393489.3_Missense_Mutation_p.R422S|FOXP2_ENST00000403559.4_Missense_Mutation_p.R531S|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393494.2_Missense_Mutation_p.R514S|FOXP2_ENST00000393500.3_3'UTR	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	514					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTCTCATAAGGCAGGTAAGTA	0.303													27	98	---	---	---	---	0	0
UTP23	84294	broad.mit.edu	37	8	117783946	117783946	+	Silent	SNP	T	T	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr8:117783946T>A	ENST00000309822.2	+	3	716	c.615T>A	c.(613-615)ctT>ctA	p.L205L	UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	205					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CCAATCCTCTTAGTTGTTTGA	0.358													21	90	---	---	---	---	0	0
FKBP15	23307	broad.mit.edu	37	9	115962194	115962194	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr9:115962194G>C	ENST00000238256.3	-	7	665	c.548C>G	c.(547-549)tCc>tGc	p.S183C		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	183					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAGGTCCTGGGAGAGCACTGC	0.488													12	34	---	---	---	---	0	0
SLC25A28	81894	broad.mit.edu	37	10	101373523	101373523	+	Silent	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:101373523G>A	ENST00000370495.4	-	2	478	c.450C>T	c.(448-450)gcC>gcT	p.A150A	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	150					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TTTCGTAGCAGGCAAAATAAA	0.532													16	68	---	---	---	---	0	0
BTBD10	84280	broad.mit.edu	37	11	13443342	13443342	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr11:13443342T>C	ENST00000278174.5	-	3	390	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	BTBD10_ENST00000530907.1_Missense_Mutation_p.M57V|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Start_Codon_SNP_p.M1V	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	49						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGTAGACTCATTTTGGTGTGG	0.408													12	68	---	---	---	---	0	0
CNTN1	1272	broad.mit.edu	37	12	41316217	41316217	+	Silent	SNP	C	C	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr12:41316217C>A	ENST00000551295.2	+	5	504	c.387C>A	c.(385-387)acC>acA	p.T129T	CNTN1_ENST00000360099.3_Silent_p.T129T|CNTN1_ENST00000348761.2_Silent_p.T118T|CNTN1_ENST00000347616.1_Silent_p.T129T|CNTN1_ENST00000547702.1_Silent_p.T129T|CNTN1_ENST00000547849.1_Silent_p.T129T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	129	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGAAGCAACCCTGAGCTTTG	0.398													4	87	---	---	---	---	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472525	47472525	+	Nonsense_Mutation	SNP	C	C	T	rs147425809		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr12:47472525C>T	ENST00000266581.4	-	2	727	c.261G>A	c.(259-261)tgG>tgA	p.W87*	AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.W87*	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	87					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ATACTGGAATCCACTCAGAAT	0.438													33	137	---	---	---	---	0	0
ANKS3	124401	broad.mit.edu	37	16	4780010	4780010	+	Silent	SNP	C	C	T	rs148767427		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr16:4780010C>T	ENST00000304283.4	-	3	435	c.141G>A	c.(139-141)caG>caA	p.Q47Q	ANKS3_ENST00000592711.1_Silent_p.Q47Q|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_5'UTR	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	47										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CCACTTCATACTGGCCAATGG	0.577													40	361	---	---	---	---	0	0
DNAH3	55567	broad.mit.edu	37	16	20952769	20952769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr16:20952769C>A	ENST00000261383.3	-	59	11607	c.11608G>T	c.(11608-11610)Gaa>Taa	p.E3870*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3870					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCATGGATTCTTCATAGACC	0.488													144	473	---	---	---	---	0	0
ACLY	47	broad.mit.edu	37	17	40025296	40025296	+	Splice_Site	SNP	C	C	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:40025296C>A	ENST00000352035.2	-	27	3264	c.3134G>T	c.(3133-3135)cGg>cTg	p.R1045L	ACLY_ENST00000590151.1_Splice_Site_p.R1045L|ACLY_ENST00000353196.1_Splice_Site_p.R1035L|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000393896.2_Splice_Site_p.R1035L|ACLY_ENST00000537919.1_Splice_Site_p.R774L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1045					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	p.R1045L(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CAATGCTCACCGAGTAAAGGA	0.358													5	485	---	---	---	---	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136011	46136011	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:46136011G>C	ENST00000362042.3	+	6	1943	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	NFE2L1_ENST00000583378.1_Missense_Mutation_p.D244H|NFE2L1_ENST00000582155.1_Missense_Mutation_p.D255H|NFE2L1_ENST00000357480.5_Missense_Mutation_p.D413H|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D413H|NFE2L1_ENST00000361665.3_Missense_Mutation_p.D432H|NFE2L1_ENST00000536222.1_Missense_Mutation_p.D287H	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	443					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTCTGTTAGATGAAGCTAT	0.547													37	118	---	---	---	---	0	0
GNA13	10672	broad.mit.edu	37	17	63049844	63049844	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:63049844T>C	ENST00000439174.2	-	2	531	c.286A>G	c.(286-288)Atg>Gtg	p.M96V	GNA13_ENST00000541118.1_Start_Codon_SNP_p.M1V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	96					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AGCACCCTCATACCTTTGTTT	0.363													26	104	---	---	---	---	0	0
PDCD5	9141	broad.mit.edu	37	19	33077770	33077770	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr19:33077770G>C	ENST00000590247.2	+	5	459	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q	PDCD5_ENST00000586035.1_Missense_Mutation_p.E51Q|PDCD5_ENST00000592786.1_Missense_Mutation_p.R58T|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000419343.3_3'UTR	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5						apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					CTAGGTATCAGAACAAGGTTT	0.343													23	94	---	---	---	---	0	0
EBF4	57593	broad.mit.edu	37	20	2688616	2688616	+	Silent	SNP	C	C	T			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr20:2688616C>T	ENST00000380648.4	+	6	694	c.426C>T	c.(424-426)gaC>gaT	p.D142D	EBF4_ENST00000609451.1_Silent_p.D146D	NM_001110514.1	NP_001103984.1	Q9BQW3	COE4_HUMAN	early B-cell factor 4	146					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding										AGGGGCAGGACAAGAACCCCG	0.607													7	17	---	---	---	---	0	0
HFM1	164045	broad.mit.edu	37	1	91818698	91818698	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:91818698C>G	ENST00000370425.3	-	15	1839	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	581	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCAGCACCATCTTTTAAGATA	0.313													22	71	---	---	---	---	0	0
SDHC	6391	broad.mit.edu	37	1	161326467	161326467	+	Splice_Site	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:161326467G>A	ENST00000367975.2	+	5	391	c.242G>A	c.(241-243)gGg>gAg	p.G81E	SDHC_ENST00000392169.2_Splice_Site_p.G28E|SDHC_ENST00000432287.2_Splice_Site_p.G47E|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000470743.3_3'UTR	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	81					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TTCTCCTCAGGGGTCTCTCTT	0.468			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				59	139	---	---	---	---	0	0
SUSD4	55061	broad.mit.edu	37	1	223396921	223396921	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:223396921C>T	ENST00000343846.3	-	7	1747	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000484758.2_Missense_Mutation_p.V303M|SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M|SUSD4_ENST00000494793.2_Missense_Mutation_p.V372M			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	372						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATGACGGGCACGCCGTCTACC	0.617													12	29	---	---	---	---	0	0
SDC1	6382	broad.mit.edu	37	2	20402631	20402631	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr2:20402631G>T	ENST00000381150.1	-	6	1219	c.829C>A	c.(829-831)Cgc>Agc	p.R277S	SDC1_ENST00000482879.1_Intron|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.R277S	NM_001006946.1	NP_001006947	P18827	SDC1_HUMAN	syndecan 1	277					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TTCTTCATGCGGTACAGCATG	0.597													5	397	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179593776	179593776	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr2:179593776T>C	ENST00000589042.1	-	65	19213	c.18989A>G	c.(18988-18990)cAg>cGg	p.Q6330R	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6013R|TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6013	Ig-like 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAAGAATCTGATCATCCTT	0.398													19	37	---	---	---	---	0	0
C3orf62	375341	broad.mit.edu	37	3	49314298	49314298	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr3:49314298T>C	ENST00000343010.3	-	1	1044	c.8A>G	c.(7-9)tAc>tGc	p.Y3C		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	3										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTCTTTATGTAATGCATTGG	0.443													14	60	---	---	---	---	0	0
GPR87	0	broad.mit.edu	37	3	151012286	151012286	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr3:151012286G>A	ENST00000260843.4	-	3	1212	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	250						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTGGTTATGTTTTCGCTTT	0.438													85	141	---	---	---	---	0	0
CNOT6L	246175	broad.mit.edu	37	4	78641727	78641727	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr4:78641727G>A	ENST00000504123.1	-	12	1656	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	509					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAGCCATTGAGGATCTAAAGG	0.468													107	168	---	---	---	---	0	0
ETNPPL	64850	broad.mit.edu	37	4	109667931	109667931	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr4:109667931G>T	ENST00000296486.3	-	10	1313	c.1159C>A	c.(1159-1161)Cac>Aac	p.H387N	ETNPPL_ENST00000510706.1_Missense_Mutation_p.H347N|ETNPPL_ENST00000411864.2_Missense_Mutation_p.H381N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H329N	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TAGATGATGTGCTGAGCTTCA	0.488													5	422	---	---	---	---	0	0
ZNF608	57507	broad.mit.edu	37	5	123984772	123984772	+	Silent	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:123984772C>A	ENST00000306315.5	-	4	1740	c.1305G>T	c.(1303-1305)ggG>ggT	p.G435G	ZNF608_ENST00000504926.1_Silent_p.G8G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	435						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCGCTCTCTTCCCTCTGCCCC	0.572													36	75	---	---	---	---	0	0
PCDHB3	0	broad.mit.edu	37	5	140482022	140482022	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:140482022G>T	ENST00000231130.2	+	1	1789	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		597	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGACTCGGGCCAGAACGC	0.721													34	131	---	---	---	---	0	0
UNC5A	90249	broad.mit.edu	37	5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:176306459G>A	ENST00000329542.4	+	14	2607	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	778	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTGGCGGACTCTGGCC	0.677													83	142	---	---	---	---	0	0
ERMARD	55780	broad.mit.edu	37	6	170175420	170175420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:170175420G>T	ENST00000588451.1	+	13	1477	c.964G>T	c.(964-966)Gaa>Taa	p.E322*	ERMARD_ENST00000392095.4_Nonsense_Mutation_p.E332*|ERMARD_ENST00000366773.3_Nonsense_Mutation_p.E458*|ERMARD_ENST00000418781.3_Nonsense_Mutation_p.E458*|ERMARD_ENST00000366772.2_Nonsense_Mutation_p.E458*					ER membrane-associated RNA degradation	458																	TTTCCCCGAAGAACTCACTCG	0.502													16	34	---	---	---	---	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578649	67578649	+	Missense_Mutation	SNP	T	T	C	rs147256539		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:67578649T>C	ENST00000310421.4	-	1	803	c.545A>G	c.(544-546)aAg>aGg	p.K182R		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	182					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGAGCGGTCCTTGCCATAGCC	0.547													91	132	---	---	---	---	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68123726	68123726	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:68123726G>A	ENST00000262215.3	-	34	5200	c.4811C>T	c.(4810-4812)tCt>tTt	p.S1604F	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1604					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTGCTGTAGATTTAATTTT	0.313													18	36	---	---	---	---	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110420309	110420309	+	Silent	SNP	T	T	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:110420309T>A	ENST00000378402.5	+	18	1949	c.1845T>A	c.(1843-1845)gtT>gtA	p.V615V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	615					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGAAGTAGTTGAAGGGAATA	0.348										HNSCC(38;0.096)			35	44	---	---	---	---	0	0
CYP11B1	0	broad.mit.edu	37	8	143960861	143960861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:143960861C>T	ENST00000377675.3	-	2	281	c.275G>A	c.(274-276)aGg>aAg	p.R92K	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TGCTGCACTCCTTCCCCATCT	0.647									Familial Hyperaldosteronism type I				27	42	---	---	---	---	0	0
IFNA16	3449	broad.mit.edu	37	9	21216869	21216869	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr9:21216869A>G	ENST00000380216.1	-	1	441	c.436T>C	c.(436-438)Tac>Cac	p.Y146H		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	146					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTTTGAAAGTATTTCCTCACA	0.463													192	273	---	---	---	---	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827286	96827286	+	Splice_Site	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:96827286C>A	ENST00000371270.3	-	2	425	c.331G>T	c.(331-333)Gga>Tga	p.G111*	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	111					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GTGCACCTACCAAGTCCTTTA	0.448													21	173	---	---	---	---	0	0
HPS6	79803	broad.mit.edu	37	10	103826538	103826538	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:103826538A>C	ENST00000299238.5	+	1	1392	c.1307A>C	c.(1306-1308)cAg>cCg	p.Q436P		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	436						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CGGGCACCTCAGGCTCTGGCC	0.622									Hermansky-Pudlak syndrome				24	125	---	---	---	---	0	0
GSTO2	119391	broad.mit.edu	37	10	106035064	106035064	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:106035064C>A	ENST00000369707.2	+	1	145	c.31C>A	c.(31-33)Cgc>Agc	p.R11S	GSTO2_ENST00000401888.2_Missense_Mutation_p.R39S|GSTO2_ENST00000429569.2_Missense_Mutation_p.R11S|GSTO2_ENST00000338595.2_Missense_Mutation_p.R39S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000450629.2_Missense_Mutation_p.R39S	NM_001191014.1	NP_001177943.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2						water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TCACAGGACCCGCCTCGTCCT	0.622											OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	101	---	---	---	---	0	0
ARL2	402	broad.mit.edu	37	11	64787952	64787952	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:64787952C>T	ENST00000246747.4	+	4	496	c.401C>T	c.(400-402)tCc>tTc	p.S134F	ARL2_ENST00000529384.1_Missense_Mutation_p.S134F|RP11-399J13.3_ENST00000301886.3_Intron|ARL2_ENST00000533729.1_Intron	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	134					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGAGCACTGTCCTCTAACGCC	0.532													8	22	---	---	---	---	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130340830	130340830	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:130340830T>C	ENST00000299164.2	+	6	1736	c.1736T>C	c.(1735-1737)tTc>tCc	p.F579S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	579	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGAAAGAGCTTCCGGGAGGAG	0.612													95	231	---	---	---	---	0	0
COG6	57511	broad.mit.edu	37	13	40239254	40239254	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr13:40239254G>A	ENST00000416691.1	+	4	491	c.391G>A	c.(391-393)Gat>Aat	p.D131N	COG6_ENST00000455146.3_Missense_Mutation_p.D131N	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	131					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACAGACTCAAGATTTAATAGT	0.274													42	44	---	---	---	---	0	0
DEGS2	123099	broad.mit.edu	37	14	100613165	100613165	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr14:100613165A>G	ENST00000305631.5	-	3	1480	c.905T>C	c.(904-906)tTt>tCt	p.F302S	DEGS2_ENST00000553834.1_Silent_p.V54V	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	302					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GGAGTCCTCAAACACAAAATC	0.632													59	108	---	---	---	---	0	0
UNC13C	440279	broad.mit.edu	37	15	54306249	54306249	+	Silent	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr15:54306249C>G	ENST00000545554.1	+	1	1149	c.1149C>G	c.(1147-1149)acC>acG	p.T383T	UNC13C_ENST00000537900.1_Silent_p.T383T|UNC13C_ENST00000260323.11_Silent_p.T383T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	383					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTTTGAAACCCCTCAACAAA	0.388													14	89	---	---	---	---	0	0
IGHV3OR16-8	0	broad.mit.edu	37	16	33020709	33020709	+	RNA	SNP	G	G	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:33020709G>C	ENST00000565407.2	+	0	117				RP11-19N8.2_ENST00000567619.1_RNA																							CCCTGAGACTGTCCTGTCCAG	0.577													5	371	---	---	---	---	0	0
IGHV3OR16-8	0	broad.mit.edu	37	16	33020716	33020716	+	RNA	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:33020716C>G	ENST00000565407.2	+	0	124				RP11-19N8.2_ENST00000567619.1_RNA																							ACTGTCCTGTCCAGCCTCTGG	0.582													10	413	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7578253	7578253	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:7578253C>A	ENST00000420246.2	-	6	728	c.596G>T	c.(595-597)gGa>gTa	p.G199V	TP53_ENST00000269305.4_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACGCAAATTTCCTTCCACTCG	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	53	---	---	---	---	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215726	8215726	+	Silent	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:8215726G>A	ENST00000361926.3	+	2	479	c.369G>A	c.(367-369)ccG>ccA	p.P123P	ARHGEF15_ENST00000421050.1_Silent_p.P123P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	123	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCAAGCCGTCTGGGTCAC	0.682													21	271	---	---	---	---	0	0
MEGF8	1954	broad.mit.edu	37	19	42865114	42865114	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:42865114C>G	ENST00000334370.4	+	31	6110	c.5475C>G	c.(5473-5475)tgC>tgG	p.C1825W	MEGF8_ENST00000251268.6_Missense_Mutation_p.C1892W	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1892						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGGGGCCTGCACCTGGTGCC	0.672													39	67	---	---	---	---	0	0
ZNF404	342908	broad.mit.edu	37	19	44384267	44384267	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:44384267C>A	ENST00000587539.1	-	2	30	c.31G>T	c.(31-33)Gtt>Ttt	p.V11F	ZNF404_ENST00000324394.6_Missense_Mutation_p.V9F	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCTATGGCAACATCGCTGAAT	0.378													4	159	---	---	---	---	0	0
PLCB4	5332	broad.mit.edu	37	20	9360791	9360791	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr20:9360791G>A	ENST00000378501.2	+	10	850	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E279K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	279					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAACCTGATGAAGATTTGAA	0.299													16	44	---	---	---	---	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906346	144906346	+	Silent	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:144906346C>T	ENST00000370490.1	+	1	6658	c.2403C>T	c.(2401-2403)acC>acT	p.T801T	SLITRK2_ENST00000413937.2_Silent_p.T801T|SLITRK2_ENST00000428560.2_Silent_p.T801T|SLITRK2_ENST00000434188.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	801						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATAAAACCGTTTTATATG	0.468													7	153	---	---	---	---	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534595	16534595	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:16534595A>G	ENST00000270747.3	-	3	674	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	180					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCAGACAACTCCACCCTG	0.667													4	100	---	---	---	---	0	0
BEST4	266675	broad.mit.edu	37	1	45253307	45253307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:45253307C>T	ENST00000372207.3	-	1	70	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	24						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCTTCCCCTCCAGCGGAGAAG	0.572													26	215	---	---	---	---	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957847	152957847	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:152957847G>T	ENST00000307122.2	+	2	205	c.141G>T	c.(139-141)gaG>gaT	p.E47D	SPRR1A_ENST00000368762.1_Missense_Mutation_p.E47D	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	47	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGCCTGAGCCCTGCCACC	0.642													21	250	---	---	---	---	0	0
SHC1	6464	broad.mit.edu	37	1	154941890	154941890	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:154941890C>T	ENST00000448116.2	-	2	750	c.530G>A	c.(529-531)cGt>cAt	p.R177H	SHC1_ENST00000368453.4_Missense_Mutation_p.R67H|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000368445.5_Missense_Mutation_p.R177H|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	177	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCAGGGCACGCATTGACTG	0.602													6	35	---	---	---	---	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466146	160466146	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:160466146C>T	ENST00000368059.3	-	2	156	c.87G>A	c.(85-87)atG>atA	p.M29I	SLAMF6_ENST00000368057.3_Missense_Mutation_p.M29I|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	29						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TCCCGTTCACCATCAATGGGG	0.458													8	283	---	---	---	---	0	0
OSR1	130497	broad.mit.edu	37	2	19553372	19553372	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:19553372C>T	ENST00000536433.1	-	1	3305	c.195G>A	c.(193-195)ccG>ccA	p.P65P	OSR1_ENST00000272223.2_Silent_p.P65P			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	65					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAGAAGAGCGCGGCAAGTGCA	0.612													5	57	---	---	---	---	0	0
KCNH7	90134	broad.mit.edu	37	2	163291905	163291905	+	Missense_Mutation	SNP	C	C	A	rs149070457		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:163291905C>A	ENST00000332142.5	-	8	1856	c.1757G>T	c.(1756-1758)gGa>gTa	p.G586V	KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	586					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.G586E(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATCCAACCATCCGATTTTGTC	0.433													5	136	---	---	---	---	0	0
ZNF35	7584	broad.mit.edu	37	3	44700525	44700525	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:44700525T>C	ENST00000396056.2	+	4	905	c.670T>C	c.(670-672)Tgt>Cgt	p.C224R	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	224					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GCCTTTTACGTGTAGCGTGTG	0.428													7	131	---	---	---	---	0	0
EPHA3	2042	broad.mit.edu	37	3	89259294	89259294	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:89259294T>G	ENST00000336596.2	+	3	663	c.438T>G	c.(436-438)atT>atG	p.I146M	EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M|EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	146						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGACACCATTGCAGCTGATG	0.418										TSP Lung(6;0.00050)			10	207	---	---	---	---	0	0
MYLK	4638	broad.mit.edu	37	3	123456319	123456319	+	Silent	SNP	G	G	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:123456319G>T	ENST00000360772.3	-	9	1038	c.660C>A	c.(658-660)atC>atA	p.I220I	MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000475616.1_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I			Q15746	MYLK_HUMAN	myosin light chain kinase	220	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGACTCCATGGATTTCCAGAA	0.547													9	218	---	---	---	---	0	0
UVSSA	57654	broad.mit.edu	37	4	1348988	1348988	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:1348988A>G	ENST00000389851.4	+	7	1578	c.1131A>G	c.(1129-1131)aaA>aaG	p.K377K	UVSSA_ENST00000511216.1_Silent_p.K377K|UVSSA_ENST00000507531.1_Silent_p.K377K	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	377																	TACTGAGAAAATACAAGGAGC	0.627													16	21	---	---	---	---	0	0
HNRNPD	3184	broad.mit.edu	37	4	83280638	83280638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:83280638C>A	ENST00000313899.7	-	3	722	c.445G>T	c.(445-447)Gag>Tag	p.E149*	HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	149	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TCTACACTCTCCGATTCTTTA	0.358													11	96	---	---	---	---	0	0
MROH2B	133558	broad.mit.edu	37	5	41005012	41005012	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr5:41005012T>C	ENST00000399564.4	-	36	4325	c.3875A>G	c.(3874-3876)gAa>gGa	p.E1292G	MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AAGGATTGGTTCCTTCATGAG	0.488													7	60	---	---	---	---	0	0
EYS	346007	broad.mit.edu	37	6	66115187	66115187	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:66115187G>A	ENST00000503581.1	-	6	1473	c.936C>T	c.(934-936)agC>agT	p.S312S	EYS_ENST00000393380.2_Silent_p.S312S|EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370621.3_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	312					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGCAGAACTGCTATTTGGGC	0.378													10	131	---	---	---	---	0	0
AKAP9	10142	broad.mit.edu	37	7	91667795	91667795	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:91667795A>G	ENST00000359028.2	+	18	4662	c.4437A>G	c.(4435-4437)ggA>ggG	p.G1479G	AKAP9_ENST00000358100.2_Silent_p.G1479G|AKAP9_ENST00000356239.3_Silent_p.G1467G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1479					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATCTGGGGGAAAAGAAAATA	0.318			T	BRAF	papillary thyroid								4	63	---	---	---	---	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518488	113518488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:113518488C>A	ENST00000284601.3	-	4	2727	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	887					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTGATAATTCTTGAACCTGC	0.363													5	96	---	---	---	---	0	0
OR2A14	135941	broad.mit.edu	37	7	143826812	143826812	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:143826812G>A	ENST00000408899.2	+	1	662	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCAGCCTGCGTGTTCATCCT	0.577													41	356	---	---	---	---	0	0
INTS10	55174	broad.mit.edu	37	8	19682476	19682476	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:19682476C>T	ENST00000397977.3	+	8	1397	c.999C>T	c.(997-999)ctC>ctT	p.L333L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	333					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGCCATCTCTCTTCCAAGGTT	0.398													3	52	---	---	---	---	0	0
WWP1	11059	broad.mit.edu	37	8	87423858	87423858	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:87423858T>G	ENST00000517970.1	+	9	1123	c.816T>G	c.(814-816)aaT>aaG	p.N272K	WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	272					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTCTCCAAATTGCACTAGTA	0.413													30	55	---	---	---	---	0	0
MMP16	4325	broad.mit.edu	37	8	89180005	89180005	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:89180005C>T	ENST00000286614.6	-	4	883	c.602G>A	c.(601-603)gGa>gAa	p.G201E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	201					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCCTCCCTCTCCATCAAAGGG	0.443													36	75	---	---	---	---	0	0
TG	7038	broad.mit.edu	37	8	133925308	133925308	+	Silent	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:133925308C>T	ENST00000220616.4	+	20	4216	c.4176C>T	c.(4174-4176)ggC>ggT	p.G1392G	TG_ENST00000377869.1_Silent_p.G1392G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1392					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTGGTGGGCAAGGATCTCC	0.557													27	43	---	---	---	---	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773444	145773444	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:145773444G>A	ENST00000276826.5	-	4	1227	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	ARHGAP39_ENST00000540274.1_Silent_p.A342A|ARHGAP39_ENST00000377307.2_Silent_p.A342A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	342	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGAGAGCCGGCCTGGTAGC	0.706													7	63	---	---	---	---	0	0
ANKRD19P	0	broad.mit.edu	37	9	95599910	95599910	+	RNA	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr9:95599910T>C	ENST00000473204.1	+	0	1991																											TTTGAACTTGTCGAACCAGAT	0.557													3	63	---	---	---	---	0	0
ANXA11	311	broad.mit.edu	37	10	81917453	81917453	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr10:81917453C>A	ENST00000438331.1	-	16	1884	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	468					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GATCTGATGTCCAGGAGGTCG	0.577													7	93	---	---	---	---	0	0
TRIM5	85363	broad.mit.edu	37	11	5686409	5686409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:5686409C>T	ENST00000305836.5	-	8	1414	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	TRIM5_ENST00000380034.3_Nonsense_Mutation_p.W371*|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	371	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCCAGGATCCAAGCAGTTTT	0.403													7	210	---	---	---	---	0	0
OR56A1	120796	broad.mit.edu	37	11	6048227	6048227	+	Silent	SNP	T	T	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:6048227T>C	ENST00000316650.5	-	1	744	c.708A>G	c.(706-708)aaA>aaG	p.K236K		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCCTCTGCTTTGAATCTAA	0.488													37	51	---	---	---	---	0	0
MUC15	143662	broad.mit.edu	37	11	26586841	26586841	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26586841C>T	ENST00000436318.2	-	2	779	c.646G>A	c.(646-648)Gga>Aga	p.G216R	ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G189R|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|ANO3_ENST00000537978.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	189						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAAGCCATCCACTTGGTTCC	0.413													7	107	---	---	---	---	0	0
SLC5A12	159963	broad.mit.edu	37	11	26702725	26702725	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26702725C>A	ENST00000396005.3	-	12	1661	c.1352G>T	c.(1351-1353)tGg>tTg	p.W451L		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	451					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGGCCACCCAAAATGACAA	0.448													3	35	---	---	---	---	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33581376	33581376	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:33581376G>A	ENST00000321505.4	+	6	3226	c.3046G>A	c.(3046-3048)Gtc>Atc	p.V1016I	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I					KIAA1549-like																		CAACGGCACCGTCGCCAGCAG	0.567													15	219	---	---	---	---	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30867973	30867973	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr12:30867973T>A	ENST00000251071.5	-	15	3320	c.2570A>T	c.(2569-2571)aAt>aTt	p.N857I	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.N801I	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	857					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCCCGGCTATTGACAAATGG	0.438													4	135	---	---	---	---	0	0
ABCC4	10257	broad.mit.edu	37	13	95862991	95862991	+	Silent	SNP	G	G	C			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr13:95862991G>C	ENST00000376887.4	-	5	690	c.576C>G	c.(574-576)ggC>ggG	p.G192G	ABCC4_ENST00000412704.1_Silent_p.G192G|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	192	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGACTATCTGGCCTGTGGTTG	0.438													6	42	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407424	105407424	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr14:105407424C>G	ENST00000333244.5	-	7	14483	c.14364G>C	c.(14362-14364)gaG>gaC	p.E4788D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4788						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGTAACATCCTCACAGGGAG	0.498													36	80	---	---	---	---	0	0
SEC14L5	9717	broad.mit.edu	37	16	5038194	5038194	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:5038194G>A	ENST00000251170.7	+	4	438	c.258G>A	c.(256-258)ttG>ttA	p.L86L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	86	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAACATCTTGAACTGGAAGG	0.622													18	35	---	---	---	---	0	0
FHOD1	29109	broad.mit.edu	37	16	67264087	67264087	+	Silent	SNP	G	G	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:67264087G>A	ENST00000258201.4	-	20	3343	c.3096C>T	c.(3094-3096)ccC>ccT	p.P1032P		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1032					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTGGGACAGAGGGGTTGCTGG	0.597													53	103	---	---	---	---	0	0
GGN	199720	broad.mit.edu	37	19	38876987	38876987	+	Silent	SNP	A	A	G			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:38876987A>G	ENST00000334928.6	-	3	1047	c.915T>C	c.(913-915)gtT>gtC	p.V305V	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	305	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCCTCGAGAAACCTCTCCCA	0.697													4	39	---	---	---	---	0	0
NOVA2	4858	broad.mit.edu	37	19	46457064	46457064	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:46457064T>A	ENST00000263257.5	-	3	564	c.370A>T	c.(370-372)Acg>Tcg	p.T124S		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	124						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGTTCATCGTGGTTTGGGGT	0.527													61	144	---	---	---	---	0	0
ANXA4	307	broad.mit.edu	37	2	70045734	70045734	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr2:70045734T>G	ENST00000394295.4	+	10	880	c.632T>G	c.(631-633)tTt>tGt	p.F211C	ANXA4_ENST00000536030.1_Missense_Mutation_p.F127C|ANXA4_ENST00000409920.1_Missense_Mutation_p.F189C	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	209					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TCTGCAGTGTTTGATGAATAC	0.333													6	76	---	---	---	---	0	0
UGT1A1	0	broad.mit.edu	37	2	234527191	234527191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr2:234527191G>T	ENST00000373450.4	+	1	901	c.838G>T	c.(838-840)Gga>Tga	p.G280*		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTGCCATCAGGGAAAGCCATT	0.403													13	270	---	---	---	---	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812921	45812921	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr3:45812921C>A	ENST00000358525.4	-	6	838	c.723G>T	c.(721-723)tgG>tgT	p.W241C	SLC6A20_ENST00000456124.2_Missense_Mutation_p.W241C|SLC6A20_ENST00000353278.4_Missense_Mutation_p.W204C	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	241					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGCATTGATCCAGGCCTTGG	0.587													4	45	---	---	---	---	0	0
RBM6	10180	broad.mit.edu	37	3	50005401	50005401	+	Silent	SNP	T	T	C			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr3:50005401T>C	ENST00000443081.1	+	3	1066	c.147T>C	c.(145-147)taT>taC	p.Y49Y	RBM6_ENST00000266022.4_Silent_p.Y181Y|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	181					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGGGCACTTATGATTTAGATT	0.498													6	53	---	---	---	---	0	0
WDFY3	23001	broad.mit.edu	37	4	85758212	85758212	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr4:85758212A>G	ENST00000322366.6	-	7	853	c.446T>C	c.(445-447)gTg>gCg	p.V149A	WDFY3_ENST00000295888.4_Missense_Mutation_p.V149A			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	149						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTGGAAGGCACTGACATTGT	0.413													6	45	---	---	---	---	0	0
COQ3	51805	broad.mit.edu	37	6	99817564	99817564	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr6:99817564G>A	ENST00000254759.3	-	7	1046	c.1022C>T	c.(1021-1023)tCt>tTt	p.S341F	COQ3_ENST00000369240.1_Missense_Mutation_p.S113F|COQ3_ENST00000369242.1_Missense_Mutation_p.S113F	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	341					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AAACTCAGCAGAGGCTGGGTG	0.453													21	151	---	---	---	---	0	0
PEX3	8504	broad.mit.edu	37	6	143780272	143780272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr6:143780272G>T	ENST00000367591.4	+	2	187	c.124G>T	c.(124-126)Gaa>Taa	p.E42*		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	42	Targeting to peroxisomes.				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AGAAATACAGGAAAGGGAGGC	0.348													6	62	---	---	---	---	0	0
ABTB2	25841	broad.mit.edu	37	11	34186310	34186310	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr11:34186310C>A	ENST00000435224.2	-	9	2335	c.1911G>T	c.(1909-1911)atG>atT	p.M637I	ABTB2_ENST00000298992.2_Missense_Mutation_p.M451I	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	451							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGGCCTCCAGCATGCTGAGGA	0.627													3	34	---	---	---	---	0	0
PRX	57716	broad.mit.edu	37	19	40901385	40901385	+	Silent	SNP	C	C	T			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr19:40901385C>T	ENST00000324001.7	-	7	3144	c.2874G>A	c.(2872-2874)aaG>aaA	p.K958K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	958					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATTTGGATACCTTCAGCTTGG	0.607													13	130	---	---	---	---	0	0
SERPIND1	3053	broad.mit.edu	37	22	21141285	21141285	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr22:21141285C>G	ENST00000215727.5	+	5	1714	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	SERPIND1_ENST00000406799.1_Missense_Mutation_p.F477L|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	477					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCTTTCTTTTCCTCATCTACG	0.592													11	78	---	---	---	---	0	0
UBXN10	127733	broad.mit.edu	37	1	20517520	20517520	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:20517520A>G	ENST00000375099.3	+	2	550	c.466A>G	c.(466-468)Atg>Gtg	p.M156V		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	156										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GACGGGCACCATGAAGACAAG	0.527													17	21	---	---	---	---	0	0
VANGL2	57216	broad.mit.edu	37	1	160394001	160394001	+	Silent	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:160394001G>A	ENST00000368061.2	+	7	1707	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	411					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACCAAGCAGCAGCCCTACC	0.592													20	39	---	---	---	---	0	0
CNTN2	6900	broad.mit.edu	37	1	205027445	205027445	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:205027445G>T	ENST00000331830.4	+	4	636	c.352G>T	c.(352-354)Ggc>Tgc	p.G118C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	118	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAACCCAGTGGGCACCGTTGT	0.642													3	39	---	---	---	---	0	0
USH2A	7399	broad.mit.edu	37	1	216462740	216462740	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:216462740T>A	ENST00000366943.2	-	11	2239	c.1853A>T	c.(1852-1854)gAg>gTg	p.E618V	USH2A_ENST00000307340.3_Missense_Mutation_p.E618V|USH2A_ENST00000366942.3_Missense_Mutation_p.E618V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	618	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGCACAGCTCACAGTTCCT	0.403										HNSCC(13;0.011)			6	45	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179399093	179399093	+	Silent	SNP	T	T	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:179399093T>C	ENST00000589042.1	-	358	102473	c.102249A>G	c.(102247-102249)aaA>aaG	p.K34083K	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.K25143K|TTN_ENST00000460472.2_Silent_p.K25018K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Silent_p.K25210K|TTN_ENST00000591111.1_Silent_p.K32442K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.K31515K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32442	Ig-like 151.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGATAACTTTAGTACTGA	0.473													21	18	---	---	---	---	0	0
IRS1	3667	broad.mit.edu	37	2	227662463	227662463	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:227662463T>A	ENST00000305123.5	-	1	2012	c.992A>T	c.(991-993)gAc>gTc	p.D331V		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCTTCGCCGTCACTGGAGGC	0.716											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	162	---	---	---	---	0	0
VHL	7428	broad.mit.edu	37	3	10191575	10191575	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:10191575G>T	ENST00000256474.2	+	3	1408	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	VHL_ENST00000345392.2_Missense_Mutation_p.D149Y|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	190					anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.E189fs*12(2)|p.D190fs*12(1)|p.D187_N193del(1)|p.D190fs*>25(1)|p.Y185fs*11(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGATCTGGAAGACCACCCAAA	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				7	17	---	---	---	---	0	0
NUP210	23225	broad.mit.edu	37	3	13393391	13393391	+	Silent	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:13393391C>T	ENST00000254508.5	-	20	2905	c.2823G>A	c.(2821-2823)agG>agA	p.R941R		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	941					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGCGACACCCCTGGCCTCCT	0.532													4	56	---	---	---	---	0	0
TRAIP	10293	broad.mit.edu	37	3	49881269	49881269	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:49881269A>T	ENST00000331456.2	-	5	486	c.373T>A	c.(373-375)Ttg>Atg	p.L125M	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	125					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTTGCCCAAGGCCTGCTGC	0.537													30	64	---	---	---	---	0	0
IFT122	55764	broad.mit.edu	37	3	129168739	129168739	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:129168739G>T	ENST00000296266.3	+	2	259	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000347300.2_Missense_Mutation_p.D23Y|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000504021.1_Missense_Mutation_p.D23Y|IFT122_ENST00000348417.2_Missense_Mutation_p.D23Y|IFT122_ENST00000349441.2_Missense_Mutation_p.D23Y|IFT122_ENST00000507564.1_Missense_Mutation_p.D23Y	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	23					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATTTAAGCCTGATGGAACTCA	0.408													5	75	---	---	---	---	0	0
COL6A6	131873	broad.mit.edu	37	3	130284217	130284217	+	Silent	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:130284217C>T	ENST00000358511.6	+	3	1072	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	COL6A6_ENST00000453409.2_Silent_p.N347N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	347	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGAAGACAACGTGACAAAAG	0.557													14	165	---	---	---	---	0	0
MSL2	55167	broad.mit.edu	37	3	135913890	135913890	+	Silent	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:135913890G>T	ENST00000309993.2	-	1	798	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	22					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGGGTCTCCGGGGTCGTAGT	0.527													70	131	---	---	---	---	0	0
LEKR1	389170	broad.mit.edu	37	3	156746095	156746095	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:156746095C>G	ENST00000470811.1	+	13	1995	c.660C>G	c.(658-660)aaC>aaG	p.N220K	LEKR1_ENST00000356539.4_Missense_Mutation_p.N524K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	105										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTCAGAAAACTTGAGGAAGG	0.358													11	13	---	---	---	---	0	0
LRRC15	131578	broad.mit.edu	37	3	194081183	194081183	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:194081183C>T	ENST00000347624.3	-	2	675	c.590G>A	c.(589-591)gGc>gAc	p.G197D	LRRC15_ENST00000428839.1_Missense_Mutation_p.G203D|LRRC15_ENST00000439944.2_Missense_Mutation_p.G203D	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	197						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CTGGAGGTTGCCCAGGTGCTG	0.572													68	112	---	---	---	---	0	0
ATP10D	57205	broad.mit.edu	37	4	47527619	47527619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr4:47527619G>T	ENST00000273859.3	+	5	1005	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	ATP10D_ENST00000504445.1_Nonsense_Mutation_p.E246*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	246					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATAGAATGTGAAAGCCCAAA	0.363													5	23	---	---	---	---	0	0
NNT	23530	broad.mit.edu	37	5	43645506	43645506	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:43645506A>C	ENST00000264663.5	+	10	1559	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H	NNT_ENST00000512996.2_Missense_Mutation_p.Q315H|NNT_ENST00000344920.4_Missense_Mutation_p.Q446H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	446					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ATATTCCTCAAGGTGCCCCAG	0.403													4	51	---	---	---	---	0	0
CKMT2	1160	broad.mit.edu	37	5	80554973	80554973	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:80554973T>C	ENST00000424301.2	+	9	1152	c.914T>C	c.(913-915)tTc>tCc	p.F305S	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.F305S|CKMT2_ENST00000254035.4_Missense_Mutation_p.F305S|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	305	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GGCTGGGAGTTCATGTGGAAT	0.473													48	59	---	---	---	---	0	0
MYLIP	29116	broad.mit.edu	37	6	16146916	16146916	+	Silent	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:16146916T>A	ENST00000349606.4	+	6	1233	c.729T>A	c.(727-729)cgT>cgA	p.R243R	MYLIP_ENST00000356840.3_Silent_p.R424R			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	424	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GCAGGTCGCGTGTGGAGCATG	0.532													3	8	---	---	---	---	0	0
GPR110	266977	broad.mit.edu	37	6	46977705	46977705	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:46977705T>A	ENST00000371253.2	-	11	1681	c.1466A>T	c.(1465-1467)aAc>aTc	p.N489I	GPR110_ENST00000283297.5_Missense_Mutation_p.N292I|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	489					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GGGTAGAATGTTCCCCAGAGT	0.413													12	17	---	---	---	---	0	0
SESN1	27244	broad.mit.edu	37	6	109322526	109322526	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:109322526A>C	ENST00000436639.2	-	3	1256	c.511T>G	c.(511-513)Tta>Gta	p.L171V	SESN1_ENST00000302071.2_Missense_Mutation_p.L46V|SESN1_ENST00000356644.7_Missense_Mutation_p.L112V	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	112					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TGTAGGGGTAACGGCCCATCC	0.348													9	22	---	---	---	---	0	0
KPNA5	3841	broad.mit.edu	37	6	117045527	117045527	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:117045527A>G	ENST00000368564.1	+	10	1136	c.988A>G	c.(988-990)Att>Gtt	p.I330V	KPNA5_ENST00000356348.1_Missense_Mutation_p.I330V			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	327	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGGTGATGATATTCAAACACA	0.279													12	8	---	---	---	---	0	0
EPB41L2	2037	broad.mit.edu	37	6	131184804	131184804	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:131184804C>T	ENST00000337057.3	-	18	3065	c.2884G>A	c.(2884-2886)Gga>Aga	p.G962R	EPB41L2_ENST00000528282.1_Missense_Mutation_p.G704R|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G962R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G768R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G663R|EPB41L2_ENST00000530757.1_Missense_Mutation_p.G158R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G340R|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G630R|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G83R|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G630R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G809R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G704R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	962	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCTCCATCTCCTGTGATCACA	0.363													7	23	---	---	---	---	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611140	42611140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:42611140G>T	ENST00000276410.2	-	5	1557	c.1202C>A	c.(1201-1203)tCa>tAa	p.S401*	CHRNA6_ENST00000534622.1_Nonsense_Mutation_p.S386*	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	401						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAGCTCATTTGATTTGTGACA	0.488													21	26	---	---	---	---	0	0
PRKDC	5591	broad.mit.edu	37	8	48691160	48691160	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:48691160C>T	ENST00000314191.2	-	84	11766	c.11710G>A	c.(11710-11712)Gcc>Acc	p.A3904T	PRKDC_ENST00000338368.3_Missense_Mutation_p.A3873T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3905	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGAGAGCTGGCGAAGTGGGAG	0.572								Non-homologous end-joining					7	11	---	---	---	---	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617577	77617577	+	Silent	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:77617577C>A	ENST00000521891.2	+	2	1702	c.1254C>A	c.(1252-1254)acC>acA	p.T418T	ZFHX4_ENST00000050961.6_Silent_p.T418T|ZFHX4_ENST00000518282.1_Silent_p.T418T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.T418T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	418						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAGTGAACACCCCAATTACCT	0.522										HNSCC(33;0.089)			9	20	---	---	---	---	0	0
OR1K1	0	broad.mit.edu	37	9	125562551	125562551	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr9:125562551C>G	ENST00000277309.2	+	1	182	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGGCTGCCATCCAGGCCAGTC	0.572													7	44	---	---	---	---	0	0
MMP26	56547	broad.mit.edu	37	11	5009509	5009509	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:5009509C>A	ENST00000380390.1	+	2	284	c.68C>A	c.(67-69)gCt>gAt	p.A23D	MMP26_ENST00000300762.1_Missense_Mutation_p.A23D|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	23					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGCCCCCTGCTGCAGACCAT	0.488													34	45	---	---	---	---	0	0
OR52A5	390054	broad.mit.edu	37	11	5153061	5153061	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:5153061A>G	ENST00000307388.1	-	1	811	c.812T>C	c.(811-813)aTa>aCa	p.I271T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATATGGTGGTATGTGTGAACC	0.408													10	36	---	---	---	---	0	0
OR4C13	283092	broad.mit.edu	37	11	49974168	49974168	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:49974168C>T	ENST00000555099.1	+	1	226	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCCTATCTCTCCTTTATTGAT	0.428													15	126	---	---	---	---	0	0
SSH3	54961	broad.mit.edu	37	11	67074410	67074410	+	Silent	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:67074410G>T	ENST00000308127.4	+	4	619	c.441G>T	c.(439-441)ctG>ctT	p.L147L	SSH3_ENST00000376757.5_Silent_p.L147L|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Silent_p.L147L	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	147					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CGGTCCTCCTGGGCGTGGATT	0.632													20	67	---	---	---	---	0	0
LRIG3	121227	broad.mit.edu	37	12	59281622	59281622	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:59281622A>C	ENST00000320743.3	-	8	1326	c.1040T>G	c.(1039-1041)gTc>gGc	p.V347G	LRIG3_ENST00000379141.4_Missense_Mutation_p.V287G	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	347						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AATGTAGCTGACTCTGTTGTT	0.413			T	ROS1	NSCLC								18	32	---	---	---	---	0	0
FREM2	341640	broad.mit.edu	37	13	39451252	39451252	+	Splice_Site	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr13:39451252A>G	ENST00000280481.7	+	21	8760		c.e21-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTTGGTTTTAGGTCAGTGAT	0.433													6	71	---	---	---	---	0	0
FREM2	341640	broad.mit.edu	37	13	39451253	39451253	+	Splice_Site	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr13:39451253G>T	ENST00000280481.7	+	21	8760		c.e21-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGGTTTTAGGTCAGTGATC	0.438													6	71	---	---	---	---	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574526	60574526	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr14:60574526T>G	ENST00000406854.1	+	2	724	c.170T>G	c.(169-171)gTc>gGc	p.V57G	PCNXL4_ENST00000391611.2_Missense_Mutation_p.V57G|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V57G|PCNXL4_ENST00000317623.4_Intron					pecanex-like 4 (Drosophila)																		TGGGGTGGAGTCGGAACACTT	0.398													4	46	---	---	---	---	0	0
ZNF668	79759	broad.mit.edu	37	16	31072622	31072622	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr16:31072622G>T	ENST00000538906.1	-	3	2411	c.1627C>A	c.(1627-1629)Ccc>Acc	p.P543T	ZNF668_ENST00000535577.1_Missense_Mutation_p.P543T|ZNF668_ENST00000394983.2_Missense_Mutation_p.P543T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P566T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P566T|ZNF668_ENST00000300849.4_Missense_Mutation_p.P543T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGGGGAAGGGCCGGAGCTCC	0.657													44	39	---	---	---	---	0	0
CCDC94	55702	broad.mit.edu	37	19	4267640	4267640	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:4267640A>G	ENST00000262962.7	+	7	796	c.728A>G	c.(727-729)aAg>aGg	p.K243R		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	243										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCAAGAGGAAGGTGGAGGTC	0.682											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36	---	---	---	---	0	0
CCDC94	55702	broad.mit.edu	37	19	4267641	4267641	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:4267641G>T	ENST00000262962.7	+	7	797	c.729G>T	c.(727-729)aaG>aaT	p.K243N		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	243										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCAAGAGGAAGGTGGAGGTCT	0.682											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36	---	---	---	---	0	0
KEAP1	9817	broad.mit.edu	37	19	10602517	10602517	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:10602517C>A	ENST00000171111.5	-	3	1608	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L	KEAP1_ENST00000393623.2_Missense_Mutation_p.R354L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GTCCGCCAACCGGAGCCAGGT	0.706													3	9	---	---	---	---	0	0
DIDO1	11083	broad.mit.edu	37	20	61525242	61525242	+	Silent	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr20:61525242G>A	ENST00000266070.4	-	12	3202	c.2877C>T	c.(2875-2877)acC>acT	p.T959T	DIDO1_ENST00000395343.1_Silent_p.T959T|DIDO1_ENST00000395340.1_Silent_p.T959T|DIDO1_ENST00000395335.2_Silent_p.T959T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	959					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGTGACGGTGGTGACCACCC	0.682													21	31	---	---	---	---	0	0
SF3A1	10291	broad.mit.edu	37	22	30737773	30737773	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr22:30737773C>A	ENST00000215793.8	-	7	1133	c.979G>T	c.(979-981)Gtc>Ttc	p.V327F	SF3A1_ENST00000439242.1_Missense_Mutation_p.V262F	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCAGACTCGACCTCCATCTCA	0.562													5	84	---	---	---	---	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337212	144337212	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chrX:144337212G>T	ENST00000370493.3	+	2	856	c.97G>T	c.(97-99)Gac>Tac	p.D33Y		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	33										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAAACAGGGACTTAGCCCC	0.413													5	26	---	---	---	---	0	0
ATP2B2	491	broad.mit.edu	37	3	10413688	10413688	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr3:10413688C>A	ENST00000397077.1	-	11	1904	c.1329G>T	c.(1327-1329)gaG>gaT	p.E443D	ATP2B2_ENST00000360273.2_Missense_Mutation_p.E488D|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E488D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E474D|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E443D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	488					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGCCCATGGTCTCACAGGCAT	0.572													6	67	---	---	---	---	0	0
XPO4	64328	broad.mit.edu	37	13	21417934	21417934	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr13:21417934T>A	ENST00000400602.2	-	5	583	c.548A>T	c.(547-549)cAt>cTt	p.H183L	XPO4_ENST00000255305.6_Missense_Mutation_p.H183L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	183					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GCAGTTACCATGGAATTCCAT	0.338													6	27	---	---	---	---	0	0
RYR3	6263	broad.mit.edu	37	15	33941374	33941374	+	Silent	SNP	C	C	T			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr15:33941374C>T	ENST00000389232.4	+	31	4150	c.4080C>T	c.(4078-4080)gaC>gaT	p.D1360D	RYR3_ENST00000415757.3_Silent_p.D1360D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1360	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAAGTTTGACCTGAATAAAA	0.532													6	102	---	---	---	---	0	0
DTNA	1837	broad.mit.edu	37	18	32418795	32418795	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr18:32418795C>A	ENST00000444659.1	+	12	1260	c.1259C>A	c.(1258-1260)cCc>cAc	p.P420H	DTNA_ENST00000269191.6_Missense_Mutation_p.P420H|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.P420H|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.P421H|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.P417H|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000269192.7_Missense_Mutation_p.P129H	NM_001390.4	NP_001381.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	420	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CGGAACAACCCCTCATGGTTA	0.512													4	32	---	---	---	---	0	0
ZNF331	55422	broad.mit.edu	37	19	54080131	54080131	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr19:54080131A>T	ENST00000253144.9	+	7	1650	c.317A>T	c.(316-318)aAt>aTt	p.N106I	ZNF331_ENST00000511154.1_Missense_Mutation_p.N106I|ZNF331_ENST00000511593.2_Missense_Mutation_p.N106I|ZNF331_ENST00000512387.1_Missense_Mutation_p.N106I|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Missense_Mutation_p.N106I|ZNF331_ENST00000411977.2_Missense_Mutation_p.N106I|ZNF331_ENST00000513999.1_Missense_Mutation_p.N106I	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ATGATCATCAATTATGTCAAA	0.453			T	?	follicular thyroid adenoma								4	48	---	---	---	---	0	0
ADORA3	140	broad.mit.edu	37	1	112042634	112042634	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:112042634C>A	ENST00000241356.4	-	2	1300	c.895G>T	c.(895-897)Gct>Tct	p.A299S	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	299					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A299T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ACCACACAAGCTTTGAGGATC	0.438													23	35	---	---	---	---	0	0
TXNIP	10628	broad.mit.edu	37	1	145441198	145441198	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:145441198C>T	ENST00000369317.4	+	8	1490	c.1156C>T	c.(1156-1158)Ctc>Ttc	p.L386F	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	386					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCCTGCATCCTCAACAACAA	0.393													15	24	---	---	---	---	0	0
TXNIP	10628	broad.mit.edu	37	1	145441200	145441200	+	Silent	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:145441200C>T	ENST00000369317.4	+	8	1492	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	386					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.N389delN(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGCATCCTCAACAACAATG	0.393													14	24	---	---	---	---	0	0
OR10J3	441911	broad.mit.edu	37	1	159283812	159283812	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:159283812C>G	ENST00000332217.5	-	1	637	c.638G>C	c.(637-639)gGc>gCc	p.G213A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAAGACCAGGCCCATAGGTAG	0.502													44	81	---	---	---	---	0	0
GPA33	10223	broad.mit.edu	37	1	167024285	167024285	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:167024285A>G	ENST00000367868.3	-	6	1098	c.755T>C	c.(754-756)aTt>aCt	p.I252T	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	252						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GATGATGCCAATGATAATGAG	0.582													34	74	---	---	---	---	0	0
THADA	63892	broad.mit.edu	37	2	43625211	43625211	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:43625211T>C	ENST00000405006.4	-	29	4477	c.4126A>G	c.(4126-4128)Ata>Gta	p.I1376V	THADA_ENST00000405975.2_Missense_Mutation_p.I1376V|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.I1057V|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1376							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATGTGATCTATCATAACAAAT	0.478													32	75	---	---	---	---	0	0
SLC4A10	57282	broad.mit.edu	37	2	162804174	162804174	+	Silent	SNP	T	T	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:162804174T>C	ENST00000375514.5	+	17	2432	c.2145T>C	c.(2143-2145)ttT>ttC	p.F715F	SLC4A10_ENST00000272716.5_Silent_p.F704F|SLC4A10_ENST00000421911.1_Silent_p.F734F|SLC4A10_ENST00000415876.2_Silent_p.F704F|SLC4A10_ENST00000446997.1_Silent_p.F734F	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	734					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCCTGTTCTTTTCCACAGTTA	0.413													31	88	---	---	---	---	0	0
TMEM45A	55076	broad.mit.edu	37	3	100287665	100287665	+	Splice_Site	SNP	G	G	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr3:100287665G>C	ENST00000403410.1	+	7	1256		c.e7-1		TMEM45A_ENST00000323523.4_Splice_Site			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A							integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CTAAATTACAGATTGGATTTG	0.348													13	47	---	---	---	---	0	0
DIRC2	84925	broad.mit.edu	37	3	122552285	122552285	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr3:122552285A>C	ENST00000261038.5	+	4	1223	c.825A>C	c.(823-825)agA>agC	p.R275S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	275					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCGTTTGTAGATTATTAAGGT	0.398													30	55	---	---	---	---	0	0
SYNE1	23345	broad.mit.edu	37	6	152647580	152647580	+	Silent	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:152647580G>A	ENST00000367255.5	-	79	15745	c.15144C>T	c.(15142-15144)aaC>aaT	p.N5048N	SYNE1_ENST00000265368.4_Silent_p.N5048N|SYNE1_ENST00000448038.1_Silent_p.N4977N|SYNE1_ENST00000341594.5_Silent_p.N4795N|SYNE1_ENST00000423061.1_Silent_p.N4977N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5048					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCCTCCAGGTTACTATGGA	0.512										HNSCC(10;0.0054)			19	42	---	---	---	---	0	0
SYNJ2	8871	broad.mit.edu	37	6	158510938	158510938	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:158510938A>T	ENST00000355585.4	+	25	3599	c.3524A>T	c.(3523-3525)gAg>gTg	p.E1175V	SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1175V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E1130V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.E260V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1175							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AATGCCCAGGAGGCAGAAGCA	0.493													3	15	---	---	---	---	0	0
RELN	5649	broad.mit.edu	37	7	103341383	103341383	+	Silent	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:103341383C>T	ENST00000428762.1	-	9	1035	c.876G>A	c.(874-876)gcG>gcA	p.A292A	RELN_ENST00000343529.5_Silent_p.A292A|RELN_ENST00000424685.2_Silent_p.A292A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	292					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATCCAGTCCGCAGAGTTAT	0.358													12	58	---	---	---	---	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	rs121913358		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	84	---	---	---	---	0	0
PPP1R42	286187	broad.mit.edu	37	8	67900709	67900709	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr8:67900709A>G	ENST00000522909.1	-	6	780	c.596T>C	c.(595-597)aTt>aCt	p.I199T	PPP1R42_ENST00000324682.5_Missense_Mutation_p.I199T			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	199																	ATTTAGATCAATTTTCCACAG	0.308													5	9	---	---	---	---	0	0
LRRC55	219527	broad.mit.edu	37	11	56949994	56949994	+	Silent	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:56949994C>T	ENST00000497933.1	+	1	774	c.627C>T	c.(625-627)gaC>gaT	p.D209D		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	179	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						AGCTCCGAGACCTGGACCTCA	0.652													27	58	---	---	---	---	0	0
PPP1CA	5499	broad.mit.edu	37	11	67167115	67167115	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:67167115T>A	ENST00000376745.4	-	4	588	c.440A>T	c.(439-441)aAa>aTa	p.K147I	PPP1CA_ENST00000312989.7_Missense_Mutation_p.K158I|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Missense_Mutation_p.K103I	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	147					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TTTCCACAGTTTGATGTTGTA	0.607													5	31	---	---	---	---	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111625227	111625227	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:111625227A>C	ENST00000527614.1	-	8	1090	c.1025T>G	c.(1024-1026)aTa>aGa	p.I342R	PPP2R1B_ENST00000311129.5_Missense_Mutation_p.I342R|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.I342R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.I278R|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.I215R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I181R	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	342							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GTTTACCTTTATATAAGGCAG	0.294													11	18	---	---	---	---	0	0
SLC4A8	9498	broad.mit.edu	37	12	51882523	51882523	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:51882523G>T	ENST00000453097.2	+	18	2544	c.2327G>T	c.(2326-2328)gGc>gTc	p.G776V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.G803V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	776					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AATCCCATTGGCCCCAATCCC	0.393													27	73	---	---	---	---	0	0
USP30	84749	broad.mit.edu	37	12	109523652	109523652	+	Silent	SNP	G	G	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:109523652G>T	ENST00000257548.5	+	13	1563	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L	USP30_ENST00000392784.2_Silent_p.L459L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	490					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGGAGGTCCTGTCCTCCAGCG	0.597													5	34	---	---	---	---	0	0
RBM25	58517	broad.mit.edu	37	14	73581030	73581030	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr14:73581030G>A	ENST00000261973.7	+	18	2713	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N	RBM25_ENST00000527432.1_Missense_Mutation_p.D810N|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	810	PWI.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CATTTTAGATGATGTTGCCAT	0.259													19	50	---	---	---	---	0	0
HEATR3	55027	broad.mit.edu	37	16	50136206	50136206	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr16:50136206G>T	ENST00000299192.7	+	14	1971	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y	HEATR3_ENST00000285767.4_Missense_Mutation_p.D508Y|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	594							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TACCACCAAAGATCCTTCCCT	0.398													32	79	---	---	---	---	0	0
NUFIP2	57532	broad.mit.edu	37	17	27614574	27614574	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:27614574T>A	ENST00000225388.4	-	2	496	c.438A>T	c.(436-438)aaA>aaT	p.K146N	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	146						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TAATTCCTGCTTTCCCAAAGG	0.408													14	78	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:47696644A>C	ENST00000393331.3	-	6	774	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408										Prostate(2;0.17)			24	46	---	---	---	---	0	0
DSG1	1828	broad.mit.edu	37	18	28934953	28934953	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr18:28934953G>A	ENST00000257192.4	+	15	3006	c.2794G>A	c.(2794-2796)Ggc>Agc	p.G932S	RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G291S|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	932					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACCAACTTCCGGCATGATAGG	0.468													65	165	---	---	---	---	0	0
PPFIA3	8541	broad.mit.edu	37	19	49653359	49653359	+	Silent	SNP	G	G	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr19:49653359G>C	ENST00000334186.4	+	29	3898	c.3549G>C	c.(3547-3549)cgG>cgC	p.R1183R	PPFIA3_ENST00000602351.1_Silent_p.R1174R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1183						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGAGTTCCCGGGCAGACGGCG	0.652													4	17	---	---	---	---	0	0
LAMA5	3911	broad.mit.edu	37	20	60887332	60887332	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr20:60887332C>T	ENST00000252999.3	-	69	9467	c.9401G>A	c.(9400-9402)cGc>cAc	p.R3134H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3134	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGCGCCAGGCGAAGGAAGCC	0.682													3	24	---	---	---	---	0	0
DSCAM	1826	broad.mit.edu	37	21	41551004	41551004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr21:41551004G>A	ENST00000400454.1	-	15	3274	c.2797C>T	c.(2797-2799)Cag>Tag	p.Q933*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	933	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGGTTCTCTGAGCAGAATCC	0.448													14	35	---	---	---	---	0	0
SGSM3	27352	broad.mit.edu	37	22	40805725	40805725	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr22:40805725G>C	ENST00000248929.9	+	22	2401	c.2212G>C	c.(2212-2214)Gtg>Ctg	p.V738L		NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	738					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GGACATGCTGGTGAAGCACCA	0.667													35	92	---	---	---	---	0	0
CYBB	1536	broad.mit.edu	37	X	37660566	37660566	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chrX:37660566T>A	ENST00000378588.4	+	8	929	c.862T>A	c.(862-864)Ttt>Att	p.F288I	CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Missense_Mutation_p.F256I|CYBB_ENST00000536160.1_Missense_Mutation_p.F21I|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	288	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GTTGGTGCGGTTTTGGCGATC	0.408													61	42	---	---	---	---	0	0
NUP210L	91181	broad.mit.edu	37	1	154067630	154067630	+	Silent	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:154067630A>T	ENST00000368559.3	-	15	2039	c.1968T>A	c.(1966-1968)gcT>gcA	p.A656A	NUP210L_ENST00000271854.3_Silent_p.A656A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	656						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGGATTTAAAGCCTGATGAT	0.393													16	26	---	---	---	---	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206858781	206858781	+	Silent	SNP	C	C	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:206858781C>G	ENST00000367103.3	+	1	400	c.207C>G	c.(205-207)gtC>gtG	p.V69V	MAPKAPK2_ENST00000294981.4_Silent_p.V69V	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	69	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CCAGCCAGGTCCTGGGGCTGG	0.607													27	26	---	---	---	---	0	0
FCAMR	83953	broad.mit.edu	37	1	207133070	207133070	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:207133070A>G	ENST00000400962.3	-	7	1141	c.725T>C	c.(724-726)tTa>tCa	p.L242S	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000324852.4_Silent_p.L509L|FCAMR_ENST00000450945.2_Missense_Mutation_p.L242S	NM_001122979.2|NM_032029.4	NP_001116451.1|NP_114418.2	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	383						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CCAGAGCCATAAGCATAAACA	0.522													105	107	---	---	---	---	0	0
ENAH	55740	broad.mit.edu	37	1	225699534	225699534	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:225699534C>A	ENST00000366844.3	-	10	1901	c.1450G>T	c.(1450-1452)Gcc>Tcc	p.A484S	ENAH_ENST00000284563.6_Missense_Mutation_p.A731S|ENAH_ENST00000366843.2_Missense_Mutation_p.A484S	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)		EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GTTGAAGAGGCCTTAGAAGTT	0.323													5	17	---	---	---	---	0	0
NRBP1	29959	broad.mit.edu	37	2	27662756	27662756	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:27662756G>C	ENST00000233557.3	+	12	1859	c.1027G>C	c.(1027-1029)Gga>Cga	p.G343R	NRBP1_ENST00000379863.3_Missense_Mutation_p.G351R|NRBP1_ENST00000379852.3_Missense_Mutation_p.G343R			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	343					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTGCATTGTGGGACACCAACG	0.517													4	86	---	---	---	---	0	0
LIPT1	51601	broad.mit.edu	37	2	99779276	99779276	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:99779276C>T	ENST00000393477.3	+	4	1208	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	LIPT1_ENST00000393473.2_Missense_Mutation_p.H286Y|LIPT1_ENST00000340066.1_Missense_Mutation_p.H286Y|LIPT1_ENST00000393471.2_Missense_Mutation_p.H286Y|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393474.3_Missense_Mutation_p.H286Y	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	286					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TACTTCCTTTCATGTGTTATA	0.328													5	36	---	---	---	---	0	0
GLI2	2736	broad.mit.edu	37	2	121748220	121748220	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:121748220A>T	ENST00000452319.1	+	14	4790	c.4730A>T	c.(4729-4731)gAg>gTg	p.E1577V	GLI2_ENST00000361492.4_Missense_Mutation_p.E1577V			P10070	GLI2_HUMAN	GLI family zinc finger 2	1577					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCCTCGCCGAGGAGAGCAAG	0.637													25	48	---	---	---	---	0	0
NEB	4703	broad.mit.edu	37	2	152486104	152486104	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:152486104A>T	ENST00000427231.2	-	68	9982	c.9780T>A	c.(9778-9780)agT>agA	p.S3260R	NEB_ENST00000172853.10_Missense_Mutation_p.S3017R|NEB_ENST00000604864.1_Missense_Mutation_p.S3260R|NEB_ENST00000397345.3_Missense_Mutation_p.S3260R|NEB_ENST00000409198.1_Missense_Mutation_p.S3017R|NEB_ENST00000603639.1_Missense_Mutation_p.S3260R	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3260					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATGGCGTCACTTCGCAAGT	0.453													19	54	---	---	---	---	0	0
CCDC148	130940	broad.mit.edu	37	2	159166039	159166039	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:159166039G>T	ENST00000283233.5	-	9	1329	c.1016C>A	c.(1015-1017)aCa>aAa	p.T339K	CCDC148_ENST00000536771.1_Missense_Mutation_p.T253K|CCDC148_ENST00000409187.1_Missense_Mutation_p.T348K	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	339										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTCAGTGAGTGTCAGCACAGC	0.383													17	20	---	---	---	---	0	0
BAZ2B	29994	broad.mit.edu	37	2	160181377	160181377	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:160181377C>T	ENST00000392783.2	-	36	6793	c.6298G>A	c.(6298-6300)Gtt>Att	p.V2100I	BAZ2B_ENST00000355831.2_Missense_Mutation_p.V2066I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V2000I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V2064I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2100	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCTTAATAACTTTCTTATAA	0.318													20	22	---	---	---	---	0	0
GALNT3	2591	broad.mit.edu	37	2	166621453	166621453	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:166621453T>G	ENST00000392701.3	-	3	1404	c.629A>C	c.(628-630)tAt>tCt	p.Y210S		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	210	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGGTGAAGAATAGAGCACACT	0.428													31	62	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179428723	179428723	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:179428723A>C	ENST00000589042.1	-	326	82360	c.82136T>G	c.(82135-82137)gTt>gGt	p.V27379G	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25738G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18439G|TTN_ENST00000460472.2_Missense_Mutation_p.V18314G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18506G|TTN_ENST00000342992.6_Missense_Mutation_p.V24811G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25738	Fibronectin type-III 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCCAGTAACTTTCAGAGG	0.438													20	73	---	---	---	---	0	0
DNAH7	56171	broad.mit.edu	37	2	196756423	196756423	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:196756423C>A	ENST00000312428.6	-	31	5102	c.5002G>T	c.(5002-5004)Gat>Tat	p.D1668Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1668	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGACCCCATCAGACCATTCA	0.378													4	43	---	---	---	---	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751671	26751671	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:26751671G>C	ENST00000396641.2	+	2	1100	c.508G>C	c.(508-510)Gtg>Ctg	p.V170L	LRRC3B_ENST00000417744.1_Missense_Mutation_p.V170L|LRRC3B_ENST00000456208.2_Missense_Mutation_p.V170L	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	170	LRRCT.					integral to membrane		p.V170M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AGCCCACAACGTGATCTGTAA	0.517													7	20	---	---	---	---	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919587	54919587	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:54919587T>A	ENST00000474759.1	+	23	2078	c.2030T>A	c.(2029-2031)cTa>cAa	p.L677Q	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L677Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L677Q|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L583Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	677						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAGCTCTACCTAAAAGGCAAA	0.473													10	12	---	---	---	---	0	0
CAMK2N2	94032	broad.mit.edu	37	3	183979033	183979033	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:183979033C>A	ENST00000296238.3	-	1	218	c.41G>T	c.(40-42)cGc>cTc	p.R14L	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	14						cytosol|nucleus	protein kinase inhibitor activity					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			TGCGCCGAAGCGGCCCATCTT	0.736													3	23	---	---	---	---	0	0
GP5	2814	broad.mit.edu	37	3	194117793	194117793	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:194117793A>C	ENST00000401815.1	-	1	1290	c.1219T>G	c.(1219-1221)Ttt>Gtt	p.F407V	GP5_ENST00000323007.3_Missense_Mutation_p.F407V			P40197	GPV_HUMAN	glycoprotein V (platelet)	407					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGAGCCCCAAACACGTCGCCA	0.697													4	7	---	---	---	---	0	0
TACR3	6870	broad.mit.edu	37	4	104577479	104577479	+	Silent	SNP	G	G	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr4:104577479G>A	ENST00000304883.2	-	3	900	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	254						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CAGTACACCAGTATAATGACG	0.378													24	46	---	---	---	---	0	0
IL21	59067	broad.mit.edu	37	4	123534028	123534028	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr4:123534028C>T	ENST00000264497.3	-	4	473	c.416G>A	c.(415-417)aGa>aAa	p.R139K		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	132					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TGATTTGAATCTTTCTAGGAA	0.313													11	12	---	---	---	---	0	0
KLHL2	11275	broad.mit.edu	37	4	166238998	166238998	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr4:166238998C>G	ENST00000226725.6	+	14	1889	c.1630C>G	c.(1630-1632)Ctg>Gtg	p.L544V	KLHL2_ENST00000538127.1_Missense_Mutation_p.L456V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.L378V|KLHL2_ENST00000421009.2_Missense_Mutation_p.L447V|KLHL2_ENST00000514860.1_Missense_Mutation_p.L548V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	544					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGTTAATGGTCTGTTATATGT	0.348													4	82	---	---	---	---	0	0
IQGAP2	10788	broad.mit.edu	37	5	76003079	76003079	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr5:76003079G>C	ENST00000274364.6	+	36	4966	c.4669G>C	c.(4669-4671)Gtt>Ctt	p.V1557L	IQGAP2_ENST00000502745.1_Missense_Mutation_p.V1053L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V1053L|IQGAP2_ENST00000508410.1_3'UTR|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V1059L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1557					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTTTGATAAGGTTAAAGTGAA	0.323													13	23	---	---	---	---	0	0
CYFIP2	26999	broad.mit.edu	37	5	156734848	156734848	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr5:156734848T>G	ENST00000347377.6	+	9	1306	c.875T>G	c.(874-876)cTt>cGt	p.L292R	CYFIP2_ENST00000541131.1_Missense_Mutation_p.L217R|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L96R|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L292R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L292R|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L266R|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	292					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAATTAATCTTAGCAAAATT	0.463													3	11	---	---	---	---	0	0
CDYL	9425	broad.mit.edu	37	6	4935754	4935754	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr6:4935754T>C	ENST00000328908.5	+	5	990	c.859T>C	c.(859-861)Tct>Cct	p.S287P	CDYL_ENST00000343762.5_Missense_Mutation_p.S101P|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.S233P|CDYL_ENST00000449732.2_Missense_Mutation_p.S101P			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	287					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGCAGGTACATCTCCGTTCAT	0.438													19	58	---	---	---	---	0	0
DSP	1832	broad.mit.edu	37	6	7583503	7583503	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr6:7583503A>G	ENST00000379802.3	+	24	6349	c.6008A>G	c.(6007-6009)gAa>gGa	p.E2003G	DSP_ENST00000418664.2_Missense_Mutation_p.E1404G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2003	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCAGTGGAAGAAGTTGCTTCT	0.478													25	36	---	---	---	---	0	0
EPHA7	2045	broad.mit.edu	37	6	93953242	93953242	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr6:93953242C>T	ENST00000369303.4	-	17	3083	c.2899G>A	c.(2899-2901)Ggg>Agg	p.G967R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	967	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGTGTGATCCCTAAACTCATC	0.353													8	67	---	---	---	---	0	0
STEAP1B	256227	broad.mit.edu	37	7	22533125	22533125	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr7:22533125C>T	ENST00000404369.4	-	3	830	c.415G>A	c.(415-417)Gtc>Atc	p.V139I	STEAP1B_ENST00000406890.2_Missense_Mutation_p.V120I	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	120						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						TGAACTTGGACAATTGCTGCT	0.383													5	64	---	---	---	---	0	0
FAM188B	84182	broad.mit.edu	37	7	30821758	30821758	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr7:30821758G>C	ENST00000265299.6	+	3	426	c.349G>C	c.(349-351)Gta>Cta	p.V117L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	117										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACTACACTGGTAAATATATA	0.373													19	48	---	---	---	---	0	0
CHD7	55636	broad.mit.edu	37	8	61734470	61734470	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:61734470C>T	ENST00000423902.2	+	10	3298	c.2819C>T	c.(2818-2820)cCg>cTg	p.P940L	CHD7_ENST00000525508.1_Missense_Mutation_p.P940L|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	940	Chromo 2.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCAGGGAGCCGGAAACAGAG	0.443													6	14	---	---	---	---	0	0
KCNV1	27012	broad.mit.edu	37	8	110980473	110980473	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:110980473T>A	ENST00000524391.1	-	4	2379	c.1347A>T	c.(1345-1347)gaA>gaT	p.E449D	KCNV1_ENST00000297404.1_Missense_Mutation_p.E449D			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	449						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCTTTAGGGCTTCACGCTGTC	0.438													13	69	---	---	---	---	0	0
FAM83A	84985	broad.mit.edu	37	8	124195408	124195408	+	Silent	SNP	C	C	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:124195408C>A	ENST00000518448.1	+	2	2326	c.312C>A	c.(310-312)acC>acA	p.T104T	FAM83A_ENST00000546351.1_Silent_p.T104T|FAM83A_ENST00000522648.1_Silent_p.T104T|FAM83A_ENST00000276699.6_Silent_p.T104T|FAM83A_ENST00000536633.1_Silent_p.T104T|FAM83A_ENST00000318462.6_Silent_p.T104T			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	104										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTCCGGCACCTACTTCCCTG	0.662													33	130	---	---	---	---	0	0
OC90	729330	broad.mit.edu	37	8	133036907	133036907	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:133036907G>T	ENST00000262283.5	-	18	1990	c.1891C>A	c.(1891-1893)Cct>Act	p.P631T	OC90_ENST00000603859.1_Missense_Mutation_p.P419T|OC90_ENST00000254627.3_Missense_Mutation_p.P419T|OC90_ENST00000443356.2_Missense_Mutation_p.P435T			Q02509	OC90_HUMAN	otoconin 90	435					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGCTGCCCAGGGCACCCGAGT	0.632													13	27	---	---	---	---	0	0
BNC2	54796	broad.mit.edu	37	9	16419581	16419581	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:16419581G>C	ENST00000380672.4	-	7	2763	c.2706C>G	c.(2704-2706)gaC>gaG	p.D902E	BNC2_ENST00000380667.2_Missense_Mutation_p.D835E|BNC2_ENST00000545497.1_Missense_Mutation_p.D807E	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GCTGCGACGAGTCCAGGCCCA	0.532													36	61	---	---	---	---	0	0
RPP25L	138716	broad.mit.edu	37	9	34611074	34611074	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:34611074C>G	ENST00000297613.4	-	2	500	c.220G>C	c.(220-222)Gtc>Ctc	p.V74L	RPP25L_ENST00000378959.4_Missense_Mutation_p.V74L	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN	ribonuclease P/MRP 25kDa subunit-like	74							nucleic acid binding	p.V74I(1)									CGCCGCTTGACAATCTCAGCG	0.627													8	48	---	---	---	---	0	0
UNC13B	10497	broad.mit.edu	37	9	35382355	35382355	+	Splice_Site	SNP	C	C	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:35382355C>G	ENST00000378495.3	+	20	2632	c.2410C>G	c.(2410-2412)Cac>Gac	p.H804D	UNC13B_ENST00000396787.1_Splice_Site_p.H816D|UNC13B_ENST00000378496.4_Splice_Site_p.H804D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	804					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTTTTTCAGGCACTTTGCATG	0.488													19	54	---	---	---	---	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740677	37740677	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:37740677T>A	ENST00000539465.1	+	15	2745	c.2152T>A	c.(2152-2154)Tac>Aac	p.Y718N	FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y718N|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y587N|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y540N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	718						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCCGGCCAGCTACCTGAGTGA	0.637													16	17	---	---	---	---	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432660	104432660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:104432660C>T	ENST00000361820.3	-	3	2634	c.2034G>A	c.(2032-2034)tgG>tgA	p.W678*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	678					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAATCCCCAGCCACATTGTCC	0.522													34	108	---	---	---	---	0	0
PSMD5	5711	broad.mit.edu	37	9	123586854	123586854	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:123586854G>C	ENST00000210313.3	-	7	998	c.924C>G	c.(922-924)gaC>gaG	p.D308E	PSMD5_ENST00000373904.5_Missense_Mutation_p.D265E	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	308					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TCATAGTGGGGTCCTGACTTT	0.418													8	112	---	---	---	---	0	0
PPP2R4	5524	broad.mit.edu	37	9	131885404	131885404	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:131885404A>G	ENST00000337738.1	+	3	470	c.203A>G	c.(202-204)tAc>tGc	p.Y68C	PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000358994.4_Missense_Mutation_p.Y68C|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000348141.5_Missense_Mutation_p.Y74C|PPP2R4_ENST00000355007.3_Missense_Mutation_p.Y68C|PPP2R4_ENST00000452489.2_Missense_Mutation_p.Y68C|PPP2R4_ENST00000393370.2_Missense_Mutation_p.Y68C	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	68					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ACCTTCGAGTACAGAGTCTCC	0.532													4	168	---	---	---	---	0	0
TACC2	10579	broad.mit.edu	37	10	123970866	123970866	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr10:123970866A>T	ENST00000369005.1	+	9	7266	c.6926A>T	c.(6925-6927)gAg>gTg	p.E2309V	TACC2_ENST00000515273.1_Missense_Mutation_p.E2313V|TACC2_ENST00000369001.1_Missense_Mutation_p.E13V|TACC2_ENST00000358010.1_Missense_Mutation_p.E455V|TACC2_ENST00000260733.3_Missense_Mutation_p.E387V|TACC2_ENST00000453444.2_Missense_Mutation_p.E2313V|TACC2_ENST00000369004.3_Missense_Mutation_p.E387V|TACC2_ENST00000513429.1_Missense_Mutation_p.E455V|TACC2_ENST00000360561.3_Missense_Mutation_p.E387V|TACC2_ENST00000369000.1_Missense_Mutation_p.E13V|TACC2_ENST00000334433.3_Missense_Mutation_p.E2309V|TACC2_ENST00000515603.1_Missense_Mutation_p.E2264V|TACC2_ENST00000368999.1_Missense_Mutation_p.E387V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2309						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGACACCCGAGAAACTTGAC	0.493													40	74	---	---	---	---	0	0
ADAM12	8038	broad.mit.edu	37	10	127730776	127730776	+	Silent	SNP	G	G	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr10:127730776G>A	ENST00000368676.4	-	19	2451	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	ADAM12_ENST00000368679.4_Intron	NM_021641.3	NP_067673.2	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	0					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CGCGCTCCCTGTTGGACTCTG	0.562													5	41	---	---	---	---	0	0
SPON1	10418	broad.mit.edu	37	11	13984532	13984532	+	RNA	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:13984532G>C	ENST00000310358.7	+	0	619							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCGCGGCGCTGGCCTTCTCCG	0.706													6	14	---	---	---	---	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955439	18955439	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:18955439G>A	ENST00000302797.3	-	1	1117	c.893C>T	c.(892-894)gCg>gTg	p.A298V		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	298				AS -> TP (in Ref. 2; AAL86880).	acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACCTCAGACGCGTCCTGCAG	0.562													21	36	---	---	---	---	0	0
LRP4	4038	broad.mit.edu	37	11	46917845	46917845	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:46917845C>G	ENST00000378623.1	-	9	1206	c.964G>C	c.(964-966)Ggg>Cgg	p.G322R		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	322	LDL-receptor class A 8.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATGCAGCGCCCATTCCAACAC	0.577													33	67	---	---	---	---	0	0
LRMP	4033	broad.mit.edu	37	12	25260815	25260815	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:25260815C>T	ENST00000354454.3	+	21	2150	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	LRMP_ENST00000548766.1_Missense_Mutation_p.L441F|LRMP_ENST00000547044.1_Missense_Mutation_p.L441F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	497					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TAATAAGGCCCTCTGGCTCTC	0.438													19	71	---	---	---	---	0	0
PLXNC1	10154	broad.mit.edu	37	12	94637768	94637768	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:94637768A>T	ENST00000258526.4	+	12	2604	c.2355A>T	c.(2353-2355)ttA>ttT	p.L785F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	785					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGACAACTTAATCATTTCAC	0.328													18	24	---	---	---	---	0	0
IQCD	115811	broad.mit.edu	37	12	113645503	113645503	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:113645503T>C	ENST00000546692.1	-	2	842	c.469A>G	c.(469-471)Aga>Gga	p.R157G	IQCD_ENST00000299732.2_Missense_Mutation_p.R157G|IQCD_ENST00000416617.2_Missense_Mutation_p.R157G			Q96DY2	IQCD_HUMAN	IQ motif containing D	157										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGCAAGAGTCTAAGGACGTTC	0.527													12	131	---	---	---	---	0	0
NOS1	4842	broad.mit.edu	37	12	117660556	117660556	+	Silent	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:117660556C>T	ENST00000317775.6	-	26	4624	c.3939G>A	c.(3937-3939)ctG>ctA	p.L1313L	NOS1_ENST00000338101.4_Silent_p.L1347L|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1313					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAGCCGTGTACAGCTCTCTGA	0.577													8	189	---	---	---	---	0	0
GPR133	283383	broad.mit.edu	37	12	131490521	131490521	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:131490521G>C	ENST00000261654.5	+	12	1819	c.1260G>C	c.(1258-1260)tgG>tgC	p.W420C	GPR133_ENST00000376682.4_Missense_Mutation_p.W106C|GPR133_ENST00000535015.1_Missense_Mutation_p.W452C	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	420					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTGCAGCCTGGAGCACCGTCG	0.642													14	30	---	---	---	---	0	0
ANKLE2	23141	broad.mit.edu	37	12	133324779	133324779	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:133324779A>G	ENST00000539605.1	-	3	7484	c.800T>C	c.(799-801)aTc>aCc	p.I267T	ANKLE2_ENST00000357997.5_Missense_Mutation_p.I329T|ANKLE2_ENST00000337516.5_Missense_Mutation_p.I329T			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	329						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTTGCTCCAGATAAGGTCAGA	0.597													8	29	---	---	---	---	0	0
CDH24	64403	broad.mit.edu	37	14	23522821	23522821	+	Silent	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr14:23522821C>T	ENST00000397359.3	-	7	1369	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CDH24_ENST00000267383.5_Silent_p.E370E|CDH24_ENST00000554034.1_Silent_p.E370E|CDH24_ENST00000487137.2_Silent_p.E370E	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	370	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGGCAGGTGGCTCTGGGGCAT	0.647													28	57	---	---	---	---	0	0
VRTN	55237	broad.mit.edu	37	14	74823853	74823853	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr14:74823853A>T	ENST00000256362.4	+	2	608	c.367A>T	c.(367-369)Atg>Ttg	p.M123L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	123					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCTCCAGGGCATGATCGACTC	0.642													4	42	---	---	---	---	0	0
BTBD7	55727	broad.mit.edu	37	14	93709033	93709033	+	Silent	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr14:93709033A>T	ENST00000334746.5	-	11	3292	c.2985T>A	c.(2983-2985)ggT>ggA	p.G995G	BTBD7_ENST00000554565.1_Silent_p.G644G|BTBD7_ENST00000393170.2_Silent_p.G569G	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	995										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAGACGTCTGACCAGGTAGGT	0.498													9	119	---	---	---	---	0	0
UNC13C	440279	broad.mit.edu	37	15	54792334	54792334	+	Silent	SNP	A	A	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:54792334A>G	ENST00000545554.1	+	20	5118	c.5118A>G	c.(5116-5118)gaA>gaG	p.E1706E	UNC13C_ENST00000260323.11_Silent_p.E1706E|UNC13C_ENST00000537900.1_Silent_p.E1704E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1706	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTCAATGGAATTCCTTCATG	0.348													14	16	---	---	---	---	0	0
ZWILCH	55055	broad.mit.edu	37	15	66821854	66821854	+	Silent	SNP	G	G	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:66821854G>A	ENST00000307897.5	+	12	1478	c.1098G>A	c.(1096-1098)ttG>ttA	p.L366L	ZWILCH_ENST00000565627.1_Silent_p.L252L|ZWILCH_ENST00000535141.2_Silent_p.L252L|ZWILCH_ENST00000446801.2_Silent_p.L252L	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	366					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						ACCAAGACTTGGTGAAGTGTT	0.368													20	39	---	---	---	---	0	0
SNX33	257364	broad.mit.edu	37	15	75941791	75941791	+	Silent	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:75941791C>T	ENST00000308527.5	+	1	1545	c.348C>T	c.(346-348)gaC>gaT	p.D116D		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	116	Poly-Asp.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ATGATGATGACTGGGATGACT	0.622													4	127	---	---	---	---	0	0
KIAA0430	9665	broad.mit.edu	37	16	15729800	15729800	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:15729800C>G	ENST00000396368.3	-	3	750	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	KIAA0430_ENST00000344181.3_Missense_Mutation_p.E4Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E182Q|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E182Q	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	181						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGGTTACTCTCTAGACACATG	0.488													22	79	---	---	---	---	0	0
CHD9	80205	broad.mit.edu	37	16	53190625	53190625	+	Silent	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:53190625C>T	ENST00000566029.1	+	2	833	c.624C>T	c.(622-624)gtC>gtT	p.V208V	CHD9_ENST00000398510.3_Silent_p.V208V|CHD9_ENST00000564845.1_Silent_p.V208V|CHD9_ENST00000447540.1_Silent_p.V208V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	208				V -> A (in Ref. 3; AAT66509).	cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CACATAGAGTCAATGTTAACC	0.388													45	93	---	---	---	---	0	0
KIFC3	3801	broad.mit.edu	37	16	57803814	57803814	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:57803814C>A	ENST00000379655.4	-	8	1250	c.993G>T	c.(991-993)gaG>gaT	p.E331D	KIFC3_ENST00000540079.2_Missense_Mutation_p.E229D|KIFC3_ENST00000445690.2_Missense_Mutation_p.E331D|KIFC3_ENST00000562903.1_Missense_Mutation_p.E192D|KIFC3_ENST00000541240.1_Missense_Mutation_p.E353D|KIFC3_ENST00000421376.2_Missense_Mutation_p.E192D|KIFC3_ENST00000543930.1_Missense_Mutation_p.E192D|KIFC3_ENST00000465878.2_Missense_Mutation_p.E192D|KIFC3_ENST00000539578.1_Missense_Mutation_p.E273D	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	331					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GGGACTGCATCTCCTCCAGCA	0.597													6	35	---	---	---	---	0	0
RABEP1	9135	broad.mit.edu	37	17	5266210	5266210	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:5266210C>T	ENST00000262477.6	+	10	1791	c.1567C>T	c.(1567-1569)Cat>Tat	p.H523Y	RABEP1_ENST00000546142.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000408982.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000537505.1_Missense_Mutation_p.H480Y|RABEP1_ENST00000341923.6_Missense_Mutation_p.H523Y|NUP88_ENST00000573169.1_Intron	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	523					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCTTCAGGTACATAATGCTGG	0.398													11	25	---	---	---	---	0	0
ELP5	23587	broad.mit.edu	37	17	7160288	7160288	+	Silent	SNP	G	G	A	rs145471666		TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:7160288G>A	ENST00000574993.1	+	5	787	c.570G>A	c.(568-570)ctG>ctA	p.L190L	ELP5_ENST00000354429.2_Silent_p.L190L|ELP5_ENST00000396628.2_Silent_p.L190L|ELP5_ENST00000356683.2_Silent_p.L190L|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Silent_p.L190L					elongator acetyltransferase complex subunit 5																		AGGTGACCCTGGGCGGTACCA	0.607													3	30	---	---	---	---	0	0
FBXW10	10517	broad.mit.edu	37	17	18651268	18651268	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:18651268A>T	ENST00000308799.4	+	2	739	c.520A>T	c.(520-522)Atc>Ttc	p.I174F	FBXW10_ENST00000301938.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395665.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395667.1_Missense_Mutation_p.I174F			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	174										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CAATCAAGACATCACAGATGT	0.453													10	22	---	---	---	---	0	0
LEPREL4	10609	broad.mit.edu	37	17	39967427	39967427	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:39967427A>C	ENST00000355468.3	-	3	1038	c.572T>G	c.(571-573)gTc>gGc	p.V191G	LEPREL4_ENST00000393928.1_Missense_Mutation_p.V191G			Q92791	SC65_HUMAN	leprecan-like 4	191					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CTCGTCGGCGACGTCCAGCAT	0.627													84	186	---	---	---	---	0	0
ABCA5	23461	broad.mit.edu	37	17	67270183	67270183	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:67270183T>A	ENST00000392676.3	-	20	2745	c.2681A>T	c.(2680-2682)aAa>aTa	p.K894I	ABCA5_ENST00000392677.2_Missense_Mutation_p.K894I|ABCA5_ENST00000588877.1_Missense_Mutation_p.K894I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	894					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TGGAACAAGTTTGATGGGAAC	0.333													19	62	---	---	---	---	0	0
ZNF93	81931	broad.mit.edu	37	19	20044389	20044389	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr19:20044389G>A	ENST00000343769.5	+	4	653	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	209						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ATGTGGCAAAGCCTTTAAGTA	0.373													13	20	---	---	---	---	0	0
KIR3DX1	0	broad.mit.edu	37	19	55048334	55048334	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr19:55048334G>A	ENST00000335056.3	+	5	939	c.901G>A	c.(901-903)Gac>Aac	p.D301N	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTCCTTCAATGACTCTCCCTA	0.577													37	64	---	---	---	---	0	0
ZNFX1	57169	broad.mit.edu	37	20	47866085	47866085	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr20:47866085G>T	ENST00000396105.1	-	14	3722	c.3476C>A	c.(3475-3477)aCc>aAc	p.T1159N	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1159N	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1159							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCGGTATAGGTAGTGAGGAT	0.517													7	80	---	---	---	---	0	0
SS18L1	26039	broad.mit.edu	37	20	60737905	60737905	+	Silent	SNP	C	C	A			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr20:60737905C>A	ENST00000331758.3	+	5	500	c.474C>A	c.(472-474)gcC>gcA	p.A158A	SS18L1_ENST00000370848.4_Silent_p.A161A|SS18L1_ENST00000421564.1_Silent_p.A158A|SS18L1_ENST00000491916.1_3'UTR	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	158	Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CGGGACCCGCCTCGCAGGGCG	0.652			T	SSX1	synovial sarcoma								13	51	---	---	---	---	0	0
MYH9	4627	broad.mit.edu	37	22	36696287	36696287	+	Silent	SNP	C	C	T			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr22:36696287C>T	ENST00000216181.5	-	23	3092	c.2862G>A	c.(2860-2862)gaG>gaA	p.E954E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	954					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGCTCTCCTCCTCCTCCAGCT	0.627			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				4	44	---	---	---	---	0	0
AWAT2	158835	broad.mit.edu	37	X	69261786	69261786	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chrX:69261786T>C	ENST00000276101.3	-	7	879	c.874A>G	c.(874-876)Att>Gtt	p.I292V		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	292						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GGATTCTCAATCTTGGGCATT	0.483													18	23	---	---	---	---	0	0
IL13RA1	3597	broad.mit.edu	37	X	117895121	117895121	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chrX:117895121A>G	ENST00000371666.3	+	6	764	c.697A>G	c.(697-699)Att>Gtt	p.I233V	IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Missense_Mutation_p.I233V	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	233						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TCCTCCACATATTAAAAACCT	0.368													57	14	---	---	---	---	0	0
MTF1	4520	broad.mit.edu	37	1	38300817	38300817	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:38300817A>T	ENST00000373036.4	-	6	1064	c.924T>A	c.(922-924)agT>agA	p.S308R		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	308						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTTCATGTGACTTTTGAGAC	0.403													36	73	---	---	---	---	0	0
MTF1	4520	broad.mit.edu	37	1	38300818	38300818	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:38300818C>T	ENST00000373036.4	-	6	1063	c.923G>A	c.(922-924)aGt>aAt	p.S308N		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	308						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTTCATGTGACTTTTGAGACT	0.403													37	74	---	---	---	---	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74649343	74649343	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:74649343T>C	ENST00000354431.4	-	2	217	c.26A>G	c.(25-27)gAg>gGg	p.E9G	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.E9G	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	9										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACTGGTTAGCTCTTCTGTGAC	0.313													8	20	---	---	---	---	0	0
ITPKB	3707	broad.mit.edu	37	1	226924202	226924202	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:226924202C>T	ENST00000429204.1	-	2	1285	c.958G>A	c.(958-960)Gat>Aat	p.D320N	ITPKB_ENST00000272117.3_Missense_Mutation_p.D320N|ITPKB_ENST00000366784.1_Missense_Mutation_p.D320N	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	320							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGGGCAAGATCCTGTGGACGG	0.627													5	89	---	---	---	---	0	0
POLQ	10721	broad.mit.edu	37	3	121208388	121208388	+	Silent	SNP	A	A	G			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr3:121208388A>G	ENST00000264233.5	-	16	3518	c.3390T>C	c.(3388-3390)aaT>aaC	p.N1130N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1130					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAAATTATCATTAGTTAGTG	0.348								DNA polymerases (catalytic subunits)					26	67	---	---	---	---	0	0
PCDHA1	0	broad.mit.edu	37	5	140167326	140167326	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr5:140167326C>T	ENST00000504120.2	+	1	1451	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A484V|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A484V	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGACGCGCAGGAGAAC	0.662													6	172	---	---	---	---	0	0
BAI3	577	broad.mit.edu	37	6	69653743	69653743	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:69653743G>T	ENST00000370598.1	+	6	1873	c.1052G>T	c.(1051-1053)tGg>tTg	p.W351L		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	351	TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGGAGGAATGGTCACCATGG	0.403													37	94	---	---	---	---	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092407	143092407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:143092407G>A	ENST00000367603.2	-	5	4211	c.3469C>T	c.(3469-3471)Cag>Tag	p.Q1157*	HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.Q1157*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Q1157*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGCATGATCTGTGGCTGGGCC	0.557													5	137	---	---	---	---	0	0
OXR1	55074	broad.mit.edu	37	8	107752617	107752617	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr8:107752617T>G	ENST00000445937.1	+	13	2390	c.2129T>G	c.(2128-2130)cTt>cGt	p.L710R	OXR1_ENST00000452423.2_Missense_Mutation_p.L158R|OXR1_ENST00000517566.2_Missense_Mutation_p.L737R|OXR1_ENST00000442977.2_Missense_Mutation_p.L738R|OXR1_ENST00000449762.2_Missense_Mutation_p.L80R|OXR1_ENST00000531443.1_Missense_Mutation_p.L710R|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000297447.6_Missense_Mutation_p.L107R|OXR1_ENST00000312046.6_Missense_Mutation_p.L703R	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	738					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CCATGGACTCTTGTTTATGGT	0.378													5	98	---	---	---	---	0	0
DFNB31	25861	broad.mit.edu	37	9	117168901	117168901	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr9:117168901G>C	ENST00000362057.3	-	9	2138	c.1970C>G	c.(1969-1971)gCc>gGc	p.A657G	DFNB31_ENST00000265134.6_Missense_Mutation_p.A274G|DFNB31_ENST00000374059.3_Missense_Mutation_p.A306G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	657	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGGGGTTGGCAGGGGAGAC	0.682													6	151	---	---	---	---	0	0
CUTC	51076	broad.mit.edu	37	10	101503043	101503043	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr10:101503043T>A	ENST00000370476.5	+	4	456	c.327T>A	c.(325-327)taT>taA	p.Y109*	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	109					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CCAAGCTTTATGGTGCTGATG	0.428													10	147	---	---	---	---	0	0
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:14316390T>A	ENST00000545643.1	-	3	546	c.233A>T	c.(232-234)cAa>cTa	p.Q78L	RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393													11	114	---	---	---	---	0	0
SLC5A12	159963	broad.mit.edu	37	11	26702711	26702711	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:26702711C>T	ENST00000396005.3	-	12	1675	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	456					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TAAATGAAGGCCCCAATGGCC	0.468													11	20	---	---	---	---	0	0
OR8K3	219473	broad.mit.edu	37	11	56085932	56085932	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:56085932G>T	ENST00000312711.1	+	1	150	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCCTCACCAAGTTGGACTCCA	0.433													36	140	---	---	---	---	0	0
PRB4	5545	broad.mit.edu	37	12	11461642	11461642	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:11461642G>A	ENST00000279575.1	-	3	308	c.275C>T	c.(274-276)cCc>cTc	p.P92L	PRB4_ENST00000535904.1_Missense_Mutation_p.P92L|PRB4_ENST00000445719.2_Missense_Mutation_p.P92L	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	92	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						ATGAGGTGGGGGACCTTGGGA	0.612										HNSCC(22;0.051)			7	662	---	---	---	---	0	0
KCTD10	83892	broad.mit.edu	37	12	109894046	109894046	+	Silent	SNP	G	G	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:109894046G>C	ENST00000228495.6	-	6	881	c.600C>G	c.(598-600)gtC>gtG	p.V200V	KCTD10_ENST00000540089.1_Silent_p.V19V|KCTD10_ENST00000540411.1_Silent_p.V174V|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Silent_p.V19V	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	200					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TTATGAACAGGACCCTTCCGT	0.438													12	86	---	---	---	---	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140420	3140420	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr16:3140420G>A	ENST00000252463.2	-	5	937	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P202S|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	284					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TTGGGCTCGGGGACGCCCTCA	0.662													6	237	---	---	---	---	0	0
CTC1	80169	broad.mit.edu	37	17	8141481	8141481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr17:8141481T>C	ENST00000315684.8	-	4	522	c.515A>G	c.(514-516)aAt>aGt	p.N172S	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	172					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCCTGAGGAATTCCACCTGGC	0.557													22	75	---	---	---	---	0	0
CT47B1	643311	broad.mit.edu	37	X	120008936	120008936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:120008936G>A	ENST00000371311.3	-	1	843	c.589C>T	c.(589-591)Cag>Tag	p.Q197*		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	197										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCGGCCTCCTGGACCGACGCA	0.706													5	85	---	---	---	---	0	0
GPC3	2719	broad.mit.edu	37	X	132887602	132887602	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:132887602G>C	ENST00000370818.3	-	3	1384	c.939C>G	c.(937-939)atC>atG	p.I313M	GPC3_ENST00000543339.1_Missense_Mutation_p.I259M|GPC3_ENST00000394299.2_Missense_Mutation_p.I313M	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	313						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCATGTCATAGATTCTGTACA	0.443			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				4	97	---	---	---	---	0	0
KCNA3	3738	broad.mit.edu	37	1	111216224	111216224	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:111216224A>C	ENST00000369769.2	-	1	1431	c.1208T>G	c.(1207-1209)tTc>tGc	p.F403C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	403						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.F403S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGAGGAAGAAGATGAGCAA	0.582													23	35	---	---	---	---	0	0
HIPK1	204851	broad.mit.edu	37	1	114483922	114483922	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:114483922T>G	ENST00000369558.1	+	2	1149	c.917T>G	c.(916-918)cTc>cGc	p.L306R	HIPK1_ENST00000369554.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369559.4_Missense_Mutation_p.L306R|HIPK1_ENST00000426820.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369561.4_Missense_Mutation_p.L306R|HIPK1_ENST00000369555.2_Missense_Mutation_p.L306R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	306	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGATGAAGCTCAAGAGTCTT	0.463													10	66	---	---	---	---	0	0
HIPK1	204851	broad.mit.edu	37	1	114483936	114483936	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:114483936C>G	ENST00000369558.1	+	2	1163	c.931C>G	c.(931-933)Ctg>Gtg	p.L311V	HIPK1_ENST00000369554.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369559.4_Missense_Mutation_p.L311V|HIPK1_ENST00000426820.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369561.4_Missense_Mutation_p.L311V|HIPK1_ENST00000369555.2_Missense_Mutation_p.L311V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	311	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.L311L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTCTTGGTCTGATCCACGC	0.478													11	69	---	---	---	---	0	0
RGS21	431704	broad.mit.edu	37	1	192335057	192335057	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:192335057A>C	ENST00000417209.2	+	5	436	c.262A>C	c.(262-264)Att>Ctt	p.I88L		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	88	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						ACAGATTAACATTGACTTCGG	0.303													29	45	---	---	---	---	0	0
IGKV1D-8	0	broad.mit.edu	37	2	90260218	90260218	+	RNA	SNP	T	T	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr2:90260218T>A	ENST00000471857.1	+	0	502																											ATTTTGCAACTTATTACTGTC	0.498													8	136	---	---	---	---	0	0
FBLN2	2199	broad.mit.edu	37	3	13659706	13659706	+	Silent	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:13659706C>T	ENST00000404922.3	+	6	1979	c.1860C>T	c.(1858-1860)tgC>tgT	p.C620C	FBLN2_ENST00000535798.1_Silent_p.C646C|FBLN2_ENST00000492059.1_Silent_p.C620C|FBLN2_ENST00000295760.7_Silent_p.C620C	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	620	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCACCTTTGCATCAATACTG	0.627													39	54	---	---	---	---	0	0
ITGA9	3680	broad.mit.edu	37	3	37512505	37512505	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:37512505G>A	ENST00000264741.5	+	2	449	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	ITGA9_ENST00000422441.1_Missense_Mutation_p.V65M	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	65					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAGGGTCCTTGTGGGCGCACC	0.522													13	34	---	---	---	---	0	0
XRN1	54464	broad.mit.edu	37	3	142141706	142141706	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:142141706A>T	ENST00000264951.4	-	7	886	c.769T>A	c.(769-771)Tat>Aat	p.Y257N	XRN1_ENST00000544157.1_Missense_Mutation_p.Y47N|XRN1_ENST00000392981.2_Missense_Mutation_p.Y257N|XRN1_ENST00000463916.1_Missense_Mutation_p.Y257N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	257					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGTCAATATACTCTCTCATT	0.328													18	52	---	---	---	---	0	0
GZMK	3003	broad.mit.edu	37	5	54326364	54326364	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr5:54326364C>G	ENST00000231009.2	+	3	385	c.315C>G	c.(313-315)ttC>ttG	p.F105L	CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	105	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TTATACCATTCTCAAGAGTTA	0.388													29	49	---	---	---	---	0	0
F13A1	2162	broad.mit.edu	37	6	6225029	6225029	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:6225029A>T	ENST00000264870.3	-	7	1128	c.863T>A	c.(862-864)gTc>gAc	p.V288D		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	288					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGATGGGGGGACGCCATAGGC	0.507													41	49	---	---	---	---	0	0
PRRC2A	7916	broad.mit.edu	37	6	31590551	31590551	+	Translation_Start_Site	SNP	A	A	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:31590551A>T	ENST00000376033.2	+	0	219				PRRC2A_ENST00000376007.4_De_novo_Start_OutOfFrame|PRRC2A_ENST00000469577.1_Intron	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A							cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AACATACTCAATGAGCTTCCA	0.547													4	128	---	---	---	---	0	0
TINAG	27283	broad.mit.edu	37	6	54216177	54216177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:54216177C>T	ENST00000259782.4	+	8	1204	c.1108C>T	c.(1108-1110)Caa>Taa	p.Q370*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	370					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAAATCATGCAAAATGGACC	0.318													7	20	---	---	---	---	0	0
VNN3	55350	broad.mit.edu	37	6	133045963	133045963	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:133045963T>C	ENST00000207771.3	-	6	1054	c.982A>G	c.(982-984)Aag>Gag	p.K328E	VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000425515.2_3'UTR					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		GAAAATGGCTTGACACTGCTG	0.478													4	101	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100683098	100683098	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr7:100683098C>T	ENST00000306151.4	+	3	8465	c.8401C>T	c.(8401-8403)Cca>Tca	p.P2801S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2801	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2801S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.502													7	368	---	---	---	---	0	0
CSMD1	64478	broad.mit.edu	37	8	2824233	2824233	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr8:2824233C>T	ENST00000520002.1	-	59	9517	c.8962G>A	c.(8962-8964)Gga>Aga	p.G2988R	CSMD1_ENST00000537824.1_Missense_Mutation_p.G2987R|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2988R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2988	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAATCATTCCGTTGGTGGGT	0.527													7	8	---	---	---	---	0	0
ADRA1A	148	broad.mit.edu	37	8	26628173	26628173	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr8:26628173G>A	ENST00000380573.3	-	3	1917	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ADRA1A_ENST00000380582.3_Silent_p.F298F|ADRA1A_ENST00000519229.1_Silent_p.F298F|ADRA1A_ENST00000276393.4_Silent_p.F298F|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Silent_p.F298F|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000354550.4_Silent_p.F298F			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	298					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGAAATCAGGGAAGAAAGACC	0.388													16	25	---	---	---	---	0	0
TRPM3	80036	broad.mit.edu	37	9	73235281	73235281	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr9:73235281C>T	ENST00000377110.3	-	15	2047	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	TRPM3_ENST00000408909.2_Splice_Site_p.D461N|TRPM3_ENST00000358082.3_Splice_Site_p.D464N|TRPM3_ENST00000396280.5_Splice_Site_p.D451N|TRPM3_ENST00000357533.2_Splice_Site_p.D606N|TRPM3_ENST00000423814.3_Splice_Site_p.D629N|TRPM3_ENST00000396285.1_Splice_Site_p.D449N|TRPM3_ENST00000377106.1_Splice_Site_p.D474N|TRPM3_ENST00000360823.2_Splice_Site_p.D464N|TRPM3_ENST00000396292.4_Splice_Site_p.D474N|TRPM3_ENST00000377105.1_Splice_Site_p.D461N|TRPM3_ENST00000377111.2_Splice_Site_p.D602N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGAATATCATCCTGTAATTAC	0.443													55	85	---	---	---	---	0	0
EGR2	1959	broad.mit.edu	37	10	64573204	64573204	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr10:64573204G>A	ENST00000242480.3	-	2	1519	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	EGR2_ENST00000411732.1_Silent_p.F348F|EGR2_ENST00000439032.1_Silent_p.F398F	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	398					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGTCACAGGCGAAGGGCTTCT	0.587													4	131	---	---	---	---	0	0
SSRP1	6749	broad.mit.edu	37	11	57094190	57094190	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:57094190C>T	ENST00000278412.2	-	16	2311	c.2045G>A	c.(2044-2046)aGg>aAg	p.R682K	RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	682	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GCTCCTCCTCCTCTTCTTTTT	0.542													32	41	---	---	---	---	0	0
TAF6L	10629	broad.mit.edu	37	11	62554330	62554330	+	Silent	SNP	A	A	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:62554330A>T	ENST00000294168.3	+	11	1632	c.1431A>T	c.(1429-1431)gcA>gcT	p.A477A	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	477					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGCCGGCGGCAGCCCCGGACT	0.736											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	9	---	---	---	---	0	0
GAB2	9846	broad.mit.edu	37	11	77934693	77934693	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:77934693G>C	ENST00000361507.4	-	6	1417	c.1332C>G	c.(1330-1332)gaC>gaG	p.D444E	GAB2_ENST00000340149.2_Missense_Mutation_p.D406E	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	444					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AATTGGTGCTGTCCGATCGGC	0.488													105	141	---	---	---	---	0	0
ANO2	57101	broad.mit.edu	37	12	5853449	5853449	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr12:5853449T>A	ENST00000327087.8	-	12	1284	c.1213A>T	c.(1213-1215)Atg>Ttg	p.M405L	ANO2_ENST00000546188.1_Missense_Mutation_p.M406L|ANO2_ENST00000356134.5_Missense_Mutation_p.M406L	NM_001278597.1	NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	410						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGGGACACATGGTGAAGGCA	0.537													21	36	---	---	---	---	0	0
AQR	9716	broad.mit.edu	37	15	35152284	35152284	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr15:35152284T>A	ENST00000156471.5	-	34	4327	c.4102A>T	c.(4102-4104)Atg>Ttg	p.M1368L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1368						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TGCATGTACATGTTGTATACA	0.313													21	36	---	---	---	---	0	0
SQRDL	58472	broad.mit.edu	37	15	45968454	45968454	+	Silent	SNP	A	A	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr15:45968454A>G	ENST00000260324.7	+	6	1196	c.810A>G	c.(808-810)aaA>aaG	p.K270K	RP11-96O20.4_ENST00000564080.1_Silent_p.K270K|SQRDL_ENST00000568606.1_Silent_p.K270K	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	270							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GAGCCGATAAACAAGAGGCTG	0.483													49	61	---	---	---	---	0	0
IFT140	9742	broad.mit.edu	37	16	1570724	1570724	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:1570724G>A	ENST00000426508.2	-	27	3902	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	IFT140_ENST00000361339.5_Missense_Mutation_p.S374F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1180										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGGTCCGAGGAGTCCTTGGC	0.612													7	19	---	---	---	---	0	0
LONP2	83752	broad.mit.edu	37	16	48295427	48295427	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:48295427G>T	ENST00000285737.4	+	5	909	c.816G>T	c.(814-816)atG>atT	p.M272I	LONP2_ENST00000535754.1_Missense_Mutation_p.M228I	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	272					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACATTGTCATGCTAGAGAAAA	0.338													32	45	---	---	---	---	0	0
DHX40	79665	broad.mit.edu	37	17	57684397	57684397	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr17:57684397G>C	ENST00000451169.2	+	21	2419	c.2060G>C	c.(2059-2061)gGa>gCa	p.G687A	DHX40_ENST00000425628.3_Missense_Mutation_p.G658A|DHX40_ENST00000251241.4_Missense_Mutation_p.G735A			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	735							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTTCAGATGGAATATCGAAA	0.358													11	12	---	---	---	---	0	0
ZNF563	147837	broad.mit.edu	37	19	12430640	12430640	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:12430640T>G	ENST00000293725.5	-	4	404	c.199A>C	c.(199-201)Atg>Ctg	p.M67L	ZNF563_ENST00000595977.1_Missense_Mutation_p.M67L	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTCTCTACCATATGACATCTG	0.308													29	46	---	---	---	---	0	0
ZNF536	9745	broad.mit.edu	37	19	30934878	30934878	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:30934878A>G	ENST00000355537.3	+	2	556	c.409A>G	c.(409-411)Aag>Gag	p.K137E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTCTGCGGCAAGCGCTTCCG	0.632													10	48	---	---	---	---	0	0
LSR	51599	broad.mit.edu	37	19	35753475	35753475	+	Silent	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:35753475C>T	ENST00000602122.1	+	4	1232	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	LSR_ENST00000347609.4_Silent_p.L231L|LSR_ENST00000427250.1_Intron|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_Silent_p.L249L|LSR_ENST00000361790.3_Silent_p.L268L			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	268					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGTGGTATGCCTGGCTGCCTT	0.622													23	80	---	---	---	---	0	0
IRGQ	126298	broad.mit.edu	37	19	44099419	44099419	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:44099419G>A	ENST00000422989.1	-	2	227	c.72C>T	c.(70-72)atC>atT	p.I24I	IRGQ_ENST00000602269.1_Silent_p.I24I	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	24							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				ACAGCGCTGCGATCAGCGCGG	0.672													18	47	---	---	---	---	0	0
SLC6A16	28968	broad.mit.edu	37	19	49797195	49797195	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:49797195G>A	ENST00000454748.3	-	9	1708	c.1507C>T	c.(1507-1509)Ctg>Ttg	p.L503L	SLC6A16_ENST00000335875.4_Silent_p.L503L			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	503						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGCAACATCAGGAAGAAGATA	0.493													33	54	---	---	---	---	0	0
C22orf23	84645	broad.mit.edu	37	22	38340508	38340508	+	Silent	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr22:38340508C>T	ENST00000249079.2	-	6	754	c.498G>A	c.(496-498)caG>caA	p.Q166Q	C22orf23_ENST00000403026.1_Silent_p.Q166Q|C22orf23_ENST00000403305.1_Silent_p.Q166Q			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	166										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CTTTCCTCTCCTGGATTTCCT	0.537													3	45	---	---	---	---	0	0
CXorf23	256643	broad.mit.edu	37	X	19984249	19984249	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chrX:19984249G>A	ENST00000379687.3	-	2	593	c.560C>T	c.(559-561)tCa>tTa	p.S187L	CXorf23_ENST00000356980.3_Missense_Mutation_p.S187L|CXorf23_ENST00000379682.4_Missense_Mutation_p.S187L	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	187						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTTCTAGTTGACTGGGAGTA	0.408													27	7	---	---	---	---	0	0
GRHL3	57822	broad.mit.edu	37	1	24669481	24669481	+	Missense_Mutation	SNP	A	A	G	rs143169996	byFrequency	TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr1:24669481A>G	ENST00000361548.4	+	11	1615	c.1385A>G	c.(1384-1386)aAt>aGt	p.N462S	GRHL3_ENST00000236255.4_Missense_Mutation_p.N467S|GRHL3_ENST00000356046.2_Missense_Mutation_p.N416S|GRHL3_ENST00000342072.4_Missense_Mutation_p.N369S|GRHL3_ENST00000350501.5_Missense_Mutation_p.N462S	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	462					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TTCATCCCCAATGTGCACTTC	0.662													4	203	---	---	---	---	0	0
FMO4	2329	broad.mit.edu	37	1	171301877	171301877	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr1:171301877G>C	ENST00000367749.3	+	7	987	c.657G>C	c.(655-657)tgG>tgC	p.W219C	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	219					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGGTACCTGGGTTCTTGGGC	0.363													8	113	---	---	---	---	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122038720	122038720	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr2:122038720C>G	ENST00000263707.5	-	2	287	c.190G>C	c.(190-192)Gag>Cag	p.E64Q		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	64					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GTCAGCGTCTCTTCATGCAGC	0.637													7	95	---	---	---	---	0	0
SNTN	132203	broad.mit.edu	37	3	63638399	63638399	+	Silent	SNP	T	T	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr3:63638399T>C	ENST00000496807.1	+	1	26	c.24T>C	c.(22-24)tcT>tcC	p.S8S	SNTN_ENST00000343837.3_Silent_p.S12S			A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	12						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						AGGACAAATCTCTCCACTTGG	0.488													3	42	---	---	---	---	0	0
SEC31A	22872	broad.mit.edu	37	4	83788357	83788357	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr4:83788357G>C	ENST00000432794.1	-	9	1158	c.995C>G	c.(994-996)tCt>tGt	p.S332C	SEC31A_ENST00000311785.7_Missense_Mutation_p.S332C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S332C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S332C|SEC31A_ENST00000509142.1_Missense_Mutation_p.S332C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000443462.2_Missense_Mutation_p.S327C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S332C|SEC31A_ENST00000395310.2_Missense_Mutation_p.S332C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S332C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S332C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S332C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S332C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S104C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S332C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S332C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S332C			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	332	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCCATGATAGAATAAACACT	0.413													3	81	---	---	---	---	0	0
KIAA1109	84162	broad.mit.edu	37	4	123202796	123202796	+	Silent	SNP	A	A	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr4:123202796A>G	ENST00000264501.4	+	52	9277	c.8904A>G	c.(8902-8904)ccA>ccG	p.P2968P	KIAA1109_ENST00000455637.1_Silent_p.P2968P|KIAA1109_ENST00000388738.3_Silent_p.P2968P			Q2LD37	K1109_HUMAN	KIAA1109	2968					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCAGCTACCAGAAGGCTTAG	0.388													6	90	---	---	---	---	0	0
MAN2A1	4124	broad.mit.edu	37	5	109200789	109200789	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr5:109200789T>G	ENST00000261483.4	+	21	4276	c.3224T>G	c.(3223-3225)tTt>tGt	p.F1075C	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1075					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGAAAAGGGTTTGATTGTCGG	0.453													5	56	---	---	---	---	0	0
MAN2A1	4124	broad.mit.edu	37	5	109200801	109200801	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr5:109200801T>C	ENST00000261483.4	+	21	4288	c.3236T>C	c.(3235-3237)tTc>tCc	p.F1079S	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1079					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATTGTCGGTTCTCTAGCAAA	0.463													4	52	---	---	---	---	0	0
MUT	4594	broad.mit.edu	37	6	49412360	49412360	+	Silent	SNP	A	A	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr6:49412360A>C	ENST00000274813.3	-	9	1795	c.1668T>G	c.(1666-1668)tcT>tcG	p.S556S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	556					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTTGCCCGAGATGCATCCA	0.433													7	200	---	---	---	---	0	0
LYN	4067	broad.mit.edu	37	8	56860229	56860229	+	Silent	SNP	C	C	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr8:56860229C>A	ENST00000520220.2	+	4	442	c.168C>A	c.(166-168)atC>atA	p.I56I	LYN_ENST00000519728.1_Silent_p.I77I	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	77					erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATGATGGCATCCACCCGGACG	0.498													7	123	---	---	---	---	0	0
KIAA1429	25962	broad.mit.edu	37	8	95538760	95538760	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr8:95538760T>C	ENST00000297591.5	-	8	1787	c.1712A>G	c.(1711-1713)gAc>gGc	p.D571G	KIAA1429_ENST00000421249.2_Missense_Mutation_p.D571G|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D571G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	571					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGCTAAATGGTCACCAAGTCT	0.403													6	140	---	---	---	---	0	0
KIF21A	55605	broad.mit.edu	37	12	39763969	39763969	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr12:39763969T>G	ENST00000395670.3	-	2	558	c.139A>C	c.(139-141)Aag>Cag	p.K47Q	KIF21A_ENST00000361961.3_Missense_Mutation_p.K47Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000361418.5_Missense_Mutation_p.K47Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	47	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTAAAAGCCTTATCTTTCCCT	0.393													8	96	---	---	---	---	0	0
PCDH9	5101	broad.mit.edu	37	13	67801398	67801398	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr13:67801398T>C	ENST00000544246.1	-	2	1866	c.1175A>G	c.(1174-1176)gAc>gGc	p.D392G	PCDH9_ENST00000456367.1_Missense_Mutation_p.D392G|PCDH9_ENST00000328454.5_Missense_Mutation_p.D392G|PCDH9_ENST00000377861.3_Missense_Mutation_p.D392G|PCDH9_ENST00000377865.2_Missense_Mutation_p.D392G	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	392	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CACATCTGTGTCCTTATCTGA	0.383													5	138	---	---	---	---	0	0
WDR76	79968	broad.mit.edu	37	15	44150892	44150892	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A6RA-01A-11D-A33T-08	TCGA-EJ-A6RA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	456a9fb1-804b-413e-ab74-dd30d4e6954e	40ec64e3-ca43-4bac-8a1a-62f299e29f7c	g.chr15:44150892G>A	ENST00000263795.6	+	11	1503	c.1433G>A	c.(1432-1434)aGg>aAg	p.R478K	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.R414K	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	478										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TATGATGCAAGGCGATTGAAT	0.388													4	79	---	---	---	---	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390957	8390957	+	Silent	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr1:8390957C>T	ENST00000471889.1	+	5	1789	c.1404C>T	c.(1402-1404)ccC>ccT	p.P468P	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.P502P|SLC45A1_ENST00000289877.8_Silent_p.P468P			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	468					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGGGTCCCGAAACCAGCA	0.607													5	97	---	---	---	---	0	0
C1orf127	148345	broad.mit.edu	37	1	11015082	11015082	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr1:11015082C>A	ENST00000377004.4	-	9	939	c.940G>T	c.(940-942)Gtc>Ttc	p.V314F	C1orf127_ENST00000377008.4_Missense_Mutation_p.V147F	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	165										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGAATGCTGACCACCACAAAG	0.557													4	60	---	---	---	---	0	0
PPFIA4	8497	broad.mit.edu	37	1	203013195	203013195	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr1:203013195T>A	ENST00000367240.2	+	4	1000	c.473T>A	c.(472-474)tTt>tAt	p.F158Y	PPFIA4_ENST00000447715.2_Missense_Mutation_p.F158Y|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	0					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AAGTCACTGTTTGAGCACCAC	0.627													3	21	---	---	---	---	0	0
XIRP2	129446	broad.mit.edu	37	2	168099562	168099562	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr2:168099562C>G	ENST00000409195.1	+	9	1749	c.1660C>G	c.(1660-1662)Caa>Gaa	p.Q554E	XIRP2_ENST00000409273.1_Missense_Mutation_p.Q332E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q554E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	379					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGACAGTTCTCAAAAAGATCT	0.398													5	49	---	---	---	---	0	0
CCDC141	285025	broad.mit.edu	37	2	179730612	179730612	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr2:179730612T>C	ENST00000420890.2	-	17	2723	c.2606A>G	c.(2605-2607)cAg>cGg	p.Q869R	CCDC141_ENST00000295723.5_Missense_Mutation_p.Q294R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	294	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAGCTGCTGCTGTAGGTTCTT	0.502													6	173	---	---	---	---	0	0
TEX264	51368	broad.mit.edu	37	3	51708534	51708534	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr3:51708534C>T	ENST00000415259.1	+	2	1295	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	TEX264_ENST00000457573.1_Missense_Mutation_p.P72S|TEX264_ENST00000395057.1_Missense_Mutation_p.P72S|TEX264_ENST00000416589.1_Missense_Mutation_p.P72S|TEX264_ENST00000341333.5_Missense_Mutation_p.P72S			Q9Y6I9	TX264_HUMAN	testis expressed 264	72						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		CAGCATCTCTCCCAAGCTCCG	0.597													5	39	---	---	---	---	0	0
RYBP	23429	broad.mit.edu	37	3	72428576	72428576	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr3:72428576T>G	ENST00000477973.2	-	2	425	c.426A>C	c.(424-426)aaA>aaC	p.K142N		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein						apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GATCCGAGGTTTTCTGAAATG	0.368													6	37	---	---	---	---	0	0
NXPE3	91775	broad.mit.edu	37	3	101520287	101520287	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr3:101520287C>G	ENST00000422132.1	+	2	499	c.302C>G	c.(301-303)aCt>aGt	p.T101S	NXPE3_ENST00000273347.5_Missense_Mutation_p.T101S|NXPE3_ENST00000477909.1_Missense_Mutation_p.T101S|NXPE3_ENST00000491511.2_Missense_Mutation_p.T101S					neurexophilin and PC-esterase domain family, member 3																		GTGAAGAGCACTGACCCTTCT	0.552													8	95	---	---	---	---	0	0
GUSBP1	0	broad.mit.edu	37	5	21491473	21491473	+	RNA	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr5:21491473C>T	ENST00000607545.1	+	0	179					NR_027026.1																						GTAACCAGTTCAAGTTGGAAG	0.542													4	47	---	---	---	---	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74722233	74722233	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr5:74722233G>T	ENST00000380494.5	-	5	1096	c.803C>A	c.(802-804)gCa>gAa	p.A268E	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.A140E|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.A140E	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	140					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GTAGCCACTTGCTCCAGACAC	0.398													5	77	---	---	---	---	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571928	30571928	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr6:30571928C>A	ENST00000376511.2	-	14	1917	c.1365G>T	c.(1363-1365)atG>atT	p.M455I		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	455	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCTTCTCCTCCATGTTATCAT	0.557													6	144	---	---	---	---	0	0
KIAA1586	57691	broad.mit.edu	37	6	56918134	56918134	+	Silent	SNP	A	A	G			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr6:56918134A>G	ENST00000370733.4	+	4	1044	c.837A>G	c.(835-837)gtA>gtG	p.V279V	KIAA1586_ENST00000545356.1_Silent_p.V252V	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	279							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGGAGAGGTAAATTGTTTAA	0.303													4	43	---	---	---	---	0	0
KIAA1009	22832	broad.mit.edu	37	6	84896094	84896094	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr6:84896094T>C	ENST00000403245.3	-	12	1471	c.1357A>G	c.(1357-1359)Act>Gct	p.T453A	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.T377A	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	453					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GAATTAACAGTTATTTTTTTC	0.294													5	72	---	---	---	---	0	0
CSMD1	64478	broad.mit.edu	37	8	3263667	3263667	+	Silent	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr8:3263667C>T	ENST00000520002.1	-	16	2706	c.2151G>A	c.(2149-2151)ggG>ggA	p.G717G	CSMD1_ENST00000537824.1_Silent_p.G716G|CSMD1_ENST00000539096.1_Silent_p.G716G|CSMD1_ENST00000400186.3_Silent_p.G717G|CSMD1_ENST00000542608.1_Silent_p.G716G|CSMD1_ENST00000602723.1_Silent_p.G717G|CSMD1_ENST00000602557.1_Silent_p.G717G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	717	Sushi 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAACCGAGCTCCCGAGTAGAA	0.478													3	18	---	---	---	---	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885613	88885613	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr8:88885613G>A	ENST00000319675.3	-	1	683	c.587C>T	c.(586-588)gCg>gTg	p.A196V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	196										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGAGTGATACGCGTGGATGCT	0.557													5	108	---	---	---	---	0	0
UBQLN1	29979	broad.mit.edu	37	9	86293436	86293436	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr9:86293436T>G	ENST00000376395.4	-	5	1313	c.790A>C	c.(790-792)Agc>Cgc	p.S264R	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S264R	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	264					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CCTGGGATGCTTTCTAGGTTG	0.473													12	417	---	---	---	---	0	0
JMJD1C	221037	broad.mit.edu	37	10	64936221	64936221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr10:64936221G>A	ENST00000399262.2	-	24	7455	c.7237C>T	c.(7237-7239)Caa>Taa	p.Q2413*	JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q2176*|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q2231*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2413	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCAAGGCCTTGTTCTTTTGAA	0.333													4	48	---	---	---	---	0	0
NAT10	55226	broad.mit.edu	37	11	34162694	34162694	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr11:34162694T>C	ENST00000257829.3	+	25	2857	c.2651T>C	c.(2650-2652)aTt>aCt	p.I884T	NAT10_ENST00000531159.2_Missense_Mutation_p.I812T|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	884	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAAAGGAGATTGAGCTGCCC	0.542													7	210	---	---	---	---	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613530	14613530	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr12:14613530C>T	ENST00000544627.1	+	9	2604	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	ATF7IP_ENST00000543189.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P754S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P754S|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	754	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTCAGTTCTTCCTGCACCCAA	0.473													15	105	---	---	---	---	0	0
SACS	26278	broad.mit.edu	37	13	23905654	23905654	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr13:23905654T>G	ENST00000382298.3	-	10	12949	c.12361A>C	c.(12361-12363)Att>Ctt	p.I4121L	SACS_ENST00000402364.1_Missense_Mutation_p.I3371L|SACS_ENST00000382292.3_Missense_Mutation_p.I4121L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4121					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGCATAGCAATTAAATATGAA	0.358													4	96	---	---	---	---	0	0
MYO16	23026	broad.mit.edu	37	13	109365050	109365050	+	Missense_Mutation	SNP	G	G	A	rs111464054	byFrequency	TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr13:109365050G>A	ENST00000356711.2	+	3	394	c.268G>A	c.(268-270)Gtc>Atc	p.V90I	MYO16_ENST00000357550.2_Missense_Mutation_p.V90I|MYO16_ENST00000251041.5_Missense_Mutation_p.V90I	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	90					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCACACCCTCGTCTCCTCGGG	0.577													4	88	---	---	---	---	0	0
DNAH3	55567	broad.mit.edu	37	16	21170750	21170750	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr16:21170750C>T	ENST00000261383.3	-	1	12	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	DNAH3_ENST00000415178.1_Missense_Mutation_p.G5R|TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000233047.4_Intron|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000572599.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	5	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCGAGGCGCCCTGTAGCTCCC	0.632													4	75	---	---	---	---	0	0
SALL1	6299	broad.mit.edu	37	16	51173693	51173693	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr16:51173693C>T	ENST00000440970.1	-	2	2580	c.2149G>A	c.(2149-2151)Gat>Aat	p.D717N	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.D814N|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	814					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTTTCTCATCAAAGGAACCT	0.512													8	175	---	---	---	---	0	0
ACE	1636	broad.mit.edu	37	17	61566347	61566347	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr17:61566347C>T	ENST00000577647.1	+	6	818	c.773C>T	c.(772-774)cCa>cTa	p.P258L	ACE_ENST00000290866.4_Missense_Mutation_p.P832L|ACE_ENST00000290863.6_Missense_Mutation_p.P258L|ACE_ENST00000428043.1_Missense_Mutation_p.P832L|ACE_ENST00000413513.3_Missense_Mutation_p.P258L|ACE_ENST00000421982.2_Intron|ACE_ENST00000490216.2_Missense_Mutation_p.P258L			P12821	ACE_HUMAN	angiotensin I converting enzyme	832	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TACGAGACACCATCCCTGGAG	0.612													8	31	---	---	---	---	0	0
SUGP2	10147	broad.mit.edu	37	19	19120892	19120892	+	Silent	SNP	G	G	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr19:19120892G>A	ENST00000601879.1	-	5	2407	c.2110C>T	c.(2110-2112)Cta>Tta	p.L704L	SUGP2_ENST00000452918.2_Silent_p.L704L|SUGP2_ENST00000600377.1_Silent_p.L718L|SUGP2_ENST00000337018.6_Silent_p.L704L|SUGP2_ENST00000456085.2_Silent_p.L473L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	704					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTGAGGATAGGAGGGTCTGG	0.642													5	70	---	---	---	---	0	0
TNN	63923	broad.mit.edu	37	1	175049544	175049544	+	Missense_Mutation	SNP	C	C	T	rs140077325		TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr1:175049544C>T	ENST00000239462.4	+	4	1143	c.1030C>T	c.(1030-1032)Cat>Tat	p.H344Y		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	344	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGCCCACAGCATCTACTTGC	0.507													4	53	---	---	---	---	0	0
FUNDC2P2	0	broad.mit.edu	37	2	84517924	84517924	+	RNA	SNP	G	G	A			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr2:84517924G>A	ENST00000331369.5	+	0	118																											GTGTGTCCTCGCAAGACTAGC	0.587													5	13	---	---	---	---	0	0
RGPD4	285190	broad.mit.edu	37	2	108487522	108487522	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr2:108487522T>C	ENST00000408999.3	+	20	3139	c.3062T>C	c.(3061-3063)tTt>tCt	p.F1021S	RGPD4_ENST00000354986.4_Missense_Mutation_p.F1021S	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1021					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCCGGTGACTTTGAGAAAGAT	0.383													4	264	---	---	---	---	0	0
MAP2	4133	broad.mit.edu	37	2	210588329	210588329	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr2:210588329T>A	ENST00000199940.6	+	12	1627	c.1187T>A	c.(1186-1188)tTa>tAa	p.L396*	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000360351.4_Intron	NM_001039538.1	NP_001034627.1	P11137	MAP2_HUMAN	microtubule-associated protein 2	1674					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GTTAGGATTTTAAACAAGAAG	0.408													11	28	---	---	---	---	0	0
CHL1	10752	broad.mit.edu	37	3	419627	419627	+	Splice_Site	SNP	T	T	C			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr3:419627T>C	ENST00000256509.2	+	16	2518		c.e16+2		CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGTTCTTGGTAAGTGCACTA	0.393													3	63	---	---	---	---	0	0
ANK2	287	broad.mit.edu	37	4	114278436	114278436	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr4:114278436A>T	ENST00000357077.4	+	38	8715	c.8662A>T	c.(8662-8664)Aag>Tag	p.K2888*	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.K2855*|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2855					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAACTTACCAAAGGACTGCCC	0.383													4	113	---	---	---	---	0	0
PCDHA6	0	broad.mit.edu	37	5	140209758	140209758	+	Silent	SNP	G	G	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr5:140209758G>T	ENST00000529310.1	+	1	2196	c.2082G>T	c.(2080-2082)gtG>gtT	p.V694V	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCTGGTGGATGTCAACG	0.677													5	112	---	---	---	---	0	0
CDSN	1041	broad.mit.edu	37	6	31084574	31084574	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr6:31084574C>T	ENST00000376288.2	-	2	844	c.818G>A	c.(817-819)tGt>tAt	p.C273Y	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	273	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						ACCATTGCTACAGGGGGGACC	0.602													11	31	---	---	---	---	0	0
UTRN	7402	broad.mit.edu	37	6	144768388	144768388	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr6:144768388A>C	ENST00000367545.3	+	14	1656	c.1656A>C	c.(1654-1656)ttA>ttC	p.L552F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	552	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGAGGCTTTAAATAAAGTCC	0.363													14	20	---	---	---	---	0	0
CSMD1	64478	broad.mit.edu	37	8	3611520	3611520	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr8:3611520T>A	ENST00000520002.1	-	6	1418	c.863A>T	c.(862-864)aAt>aTt	p.N288I	CSMD1_ENST00000537824.1_Missense_Mutation_p.N288I|CSMD1_ENST00000602723.1_Missense_Mutation_p.N288I|CSMD1_ENST00000400186.3_Missense_Mutation_p.N288I|CSMD1_ENST00000542608.1_Missense_Mutation_p.N288I|CSMD1_ENST00000602557.1_Missense_Mutation_p.N288I|CSMD1_ENST00000539096.1_Missense_Mutation_p.N288I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	288	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCGTAGCCAATTCTTGCTACT	0.433													3	28	---	---	---	---	0	0
FAM111B	374393	broad.mit.edu	37	11	58893556	58893556	+	Silent	SNP	T	T	C			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr11:58893556T>C	ENST00000343597.3	+	4	2177	c.1986T>C	c.(1984-1986)gtT>gtC	p.V662V	FAM111B_ENST00000411426.1_Silent_p.V632V|FAM111B_ENST00000529618.1_Silent_p.V632V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	662							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GCAAATTGGTTGCTTTGCATA	0.383													10	96	---	---	---	---	0	0
RSF1	51773	broad.mit.edu	37	11	77412452	77412452	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr11:77412452C>G	ENST00000308488.6	-	6	2124	c.1822G>C	c.(1822-1824)Gaa>Caa	p.E608Q	RSF1_ENST00000480887.1_Missense_Mutation_p.E356Q|RSF1_ENST00000360355.2_Missense_Mutation_p.E577Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	608					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GGAACTTCTTCTGGTATTGGA	0.423													33	64	---	---	---	---	0	0
HTR3B	9177	broad.mit.edu	37	11	113813797	113813797	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr11:113813797C>T	ENST00000260191.2	+	7	1047	c.790C>T	c.(790-792)Cca>Tca	p.P264S	HTR3B_ENST00000537778.1_Missense_Mutation_p.P253S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	264					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CTTCTACCTGCCACCCAACTG	0.587													16	23	---	---	---	---	0	0
FLRT2	23768	broad.mit.edu	37	14	86089586	86089586	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr14:86089586G>T	ENST00000330753.4	+	2	2495	c.1728G>T	c.(1726-1728)aaG>aaT	p.K576N	FLRT2_ENST00000554746.1_Missense_Mutation_p.K576N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	576					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCTCCCAGAAGTGGAAATACA	0.542													4	100	---	---	---	---	0	0
PACS2	23241	broad.mit.edu	37	14	105818794	105818794	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr14:105818794T>C	ENST00000447393.1	+	3	462	c.287T>C	c.(286-288)tTc>tCc	p.F96S	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000325438.8_Missense_Mutation_p.F96S|PACS2_ENST00000458164.2_Missense_Mutation_p.F96S|PACS2_ENST00000430725.2_Missense_Mutation_p.F29S	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	96					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCCCTGACCTTCTCCTTGCAG	0.607											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	47	---	---	---	---	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44783110	44783110	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr15:44783110A>G	ENST00000260327.4	+	5	1167	c.604A>G	c.(604-606)Aat>Gat	p.N202D	CTDSPL2_ENST00000558373.1_Intron|CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.N202D	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	202							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AGCTTACTCAAATCAAGCAGT	0.393													27	57	---	---	---	---	0	0
ARL16	339231	broad.mit.edu	37	17	79650772	79650772	+	Silent	SNP	C	C	G			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr17:79650772C>G	ENST00000397498.4	-	1	182	c.84G>C	c.(82-84)ctG>ctC	p.L28L		NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	28							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGCCCCCAGCAGGAGACACA	0.701													4	9	---	---	---	---	0	0
KCNG2	26251	broad.mit.edu	37	18	77659468	77659468	+	Silent	SNP	C	C	T			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr18:77659468C>T	ENST00000316249.3	+	2	1053	c.1053C>T	c.(1051-1053)cgC>cgT	p.R351R	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	351					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.R351R(1)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGCGCGCCGCGACTTCTCCA	0.721													8	17	---	---	---	---	0	0
ERGIC3	51614	broad.mit.edu	37	20	34143849	34143849	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr20:34143849T>A	ENST00000348547.2	+	9	840	c.763T>A	c.(763-765)Tat>Aat	p.Y255N	ERGIC3_ENST00000447986.1_Missense_Mutation_p.Y270N|ERGIC3_ENST00000279052.6_Missense_Mutation_p.Y260N|ERGIC3_ENST00000357394.4_Missense_Mutation_p.Y260N|ERGIC3_ENST00000482338.1_3'UTR	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	255					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGGGGAGGACTATCCAGGCAT	0.587													43	98	---	---	---	---	0	0
CHUK	1147	broad.mit.edu	37	10	101960457	101960457	+	Silent	SNP	T	T	C			TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chr10:101960457T>C	ENST00000370397.7	-	15	1736	c.1650A>G	c.(1648-1650)ggA>ggG	p.G550G		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	550					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CCTGACGTCTTCCATAGGGGC	0.403													3	61	---	---	---	---	0	0
DNAH2	146754	broad.mit.edu	37	17	7734509	7734509	+	Silent	SNP	C	C	T			TCGA-EJ-A7NG-01A-31D-A33T-08	TCGA-EJ-A7NG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ccb9a1a-8f45-44c1-9650-b90ebf475a2c	f7be9369-def7-4cc9-8caa-9d546dc7c0df	g.chr17:7734509C>T	ENST00000572933.1	+	80	13796	c.12336C>T	c.(12334-12336)ggC>ggT	p.G4112G	DNAH2_ENST00000389173.2_Silent_p.G4112G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4112					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCTTTGGCCAGCACCCCA	0.527													4	218	---	---	---	---	0	0
SLC35F3	148641	broad.mit.edu	37	1	234444947	234444947	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr1:234444947T>G	ENST00000366618.3	+	4	854	c.709T>G	c.(709-711)Tac>Gac	p.Y237D	SLC35F3_ENST00000366617.3_Missense_Mutation_p.Y168D	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	168					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AAACTACCTGTACTTACATGC	0.423													8	118	---	---	---	---	0	0
ACY1	95	broad.mit.edu	37	3	52012035	52012035	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr3:52012035G>T	ENST00000458031.2	+	2	304	c.73G>T	c.(73-75)Gtc>Ttc	p.V25F	ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.G73V|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Missense_Mutation_p.G73V|ABHD14A_ENST00000273596.3_Missense_Mutation_p.G73V			Q03154	ACY1_HUMAN	aminoacylase 1	0					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	GTCCTGGCTGGTCTCACCCCT	0.612													11	38	---	---	---	---	0	0
AC226119.5	0	broad.mit.edu	37	4	3948505	3948505	+	RNA	SNP	G	G	A			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr4:3948505G>A	ENST00000281228.8	-	0	880				FAM86EP_ENST00000313946.8_RNA																							CTAGCTCAGTGGTGAACAGCT	0.657													9	69	---	---	---	---	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868519	31868519	+	Silent	SNP	T	T	C			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr6:31868519T>C	ENST00000375527.2	-	2	739	c.564A>G	c.(562-564)gaA>gaG	p.E188E	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GCTCCAAGTCTTCATCCAGTG	0.622													3	46	---	---	---	---	0	0
COX7A2	1347	broad.mit.edu	37	6	75950898	75950898	+	Silent	SNP	C	C	T			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr6:75950898C>T	ENST00000370081.2	-	3	508	c.198G>A	c.(196-198)ctG>ctA	p.L66L	COX7A2_ENST00000472311.2_Silent_p.L34L|COX7A2_ENST00000370089.2_Silent_p.L66L|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000509698.1_Silent_p.L34L|COX7A2_ENST00000230459.4_Silent_p.L34L			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	34						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						GTACCTGGAACAGTTTTTGCT	0.348													15	130	---	---	---	---	0	0
TBX18	9096	broad.mit.edu	37	6	85446895	85446895	+	Silent	SNP	C	C	T			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr6:85446895C>T	ENST00000369663.5	-	8	1669	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	444					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TCTCACCAGCCTGGTTGGTGA	0.607													12	60	---	---	---	---	0	0
DGKI	9162	broad.mit.edu	37	7	137237167	137237167	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr7:137237167C>T	ENST00000453654.2	-	20	1734	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	DGKI_ENST00000424189.2_Missense_Mutation_p.A699T|DGKI_ENST00000446122.1_Missense_Mutation_p.A699T|DGKI_ENST00000288490.5_Missense_Mutation_p.A699T			O75912	DGKI_HUMAN	diacylglycerol kinase, iota		DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACCATGTTGGCCTGATTCCTC	0.493													26	93	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151873585	151873585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr7:151873585G>A	ENST00000355193.2	-	38	9171	c.8953C>T	c.(8953-8955)Cag>Tag	p.Q2985*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2985*					lysine (K)-specific methyltransferase 2C																		TGCACACCCTGAGAAAAAACA	0.473													7	44	---	---	---	---	0	0
TRPA1	8989	broad.mit.edu	37	8	72936047	72936047	+	Splice_Site	SNP	A	A	G			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr8:72936047A>G	ENST00000262209.4	-	26	3357		c.e26+1		RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1							integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAAAATACATACCGGTATTTC	0.244													11	51	---	---	---	---	0	0
APBA1	320	broad.mit.edu	37	9	72131101	72131101	+	Silent	SNP	C	C	T			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr9:72131101C>T	ENST00000265381.4	-	2	1248	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	342					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGGCATCGCGCTTCTCCTTGC	0.711													14	56	---	---	---	---	0	0
PFKM	5213	broad.mit.edu	37	12	48539011	48539011	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr12:48539011C>T	ENST00000340802.6	+	24	2548	c.2324C>T	c.(2323-2325)aCt>aTt	p.T775I	PFKM_ENST00000395233.2_Missense_Mutation_p.T673I|PFKM_ENST00000551804.1_Missense_Mutation_p.T673I|PFKM_ENST00000359794.5_Missense_Mutation_p.T704I|PFKM_ENST00000312352.7_Missense_Mutation_p.T704I|PFKM_ENST00000547587.1_Missense_Mutation_p.T704I	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	704					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGCCAATACTCCAGATTCG	0.542													14	79	---	---	---	---	0	0
CHD2	1106	broad.mit.edu	37	15	93524122	93524122	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr15:93524122G>C	ENST00000394196.4	+	23	4022	c.2954G>C	c.(2953-2955)gGg>gCg	p.G985A	CHD2_ENST00000557381.1_Missense_Mutation_p.G985A	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	985	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAACTGGAAGGGGAGGAATCA	0.363													5	49	---	---	---	---	0	0
DLG4	1742	broad.mit.edu	37	17	7100327	7100327	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr17:7100327G>T	ENST00000399510.2	-	11	1813	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	DLG4_ENST00000399506.2_Missense_Mutation_p.L278M|DLG4_ENST00000302955.6_Missense_Mutation_p.L275M	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	278	PDZ 3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TCGGTGCCCAGGTAGCTGCTG	0.607													3	19	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr17:7578443A>G	ENST00000420246.2	-	5	619	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACTGCTTGTAGATGGCCATG	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	54	---	---	---	---	0	0
BAGE2	85319	broad.mit.edu	37	21	11047546	11047546	+	RNA	SNP	C	C	A			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr21:11047546C>A	ENST00000470054.1	-	0	708									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTATGATACCCTTTGTCACAC	0.338													5	475	---	---	---	---	0	0
EIF3L	51386	broad.mit.edu	37	22	38254723	38254723	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EJ-A7NH-01A-12D-A33T-08	TCGA-EJ-A7NH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e69e7f2-9350-438e-b4c0-66d28d1681a3	ad22411c-0db0-4ad6-8c80-4134cc51e7ed	g.chr22:38254723C>G	ENST00000412331.2	+	5	993	c.411C>G	c.(409-411)taC>taG	p.Y137*	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Nonsense_Mutation_p.Y39*|EIF3L_ENST00000381683.6_Nonsense_Mutation_p.Y137*	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	137						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AATTATACTACAGGCACATAT	0.368													35	167	---	---	---	---	0	0
KCNH8	131096	broad.mit.edu	37	3	19492678	19492678	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr3:19492678C>G	ENST00000328405.2	+	10	1873	c.1607C>G	c.(1606-1608)tCt>tGt	p.S536C	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	536						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GAACTGCGTTCTGACATCACT	0.438													7	152	---	---	---	---	0	0
PRDM9	56979	broad.mit.edu	37	5	23526964	23526964	+	Silent	SNP	T	T	C			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr5:23526964T>C	ENST00000296682.3	+	11	1949	c.1767T>C	c.(1765-1767)ttT>ttC	p.F589F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	589					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGCGGGGCTTTAGCTGGCAGT	0.602										HNSCC(3;0.000094)			4	93	---	---	---	---	0	0
GPR98	84059	broad.mit.edu	37	5	89938713	89938713	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr5:89938713G>A	ENST00000405460.2	+	13	2504	c.2408G>A	c.(2407-2409)gGg>gAg	p.G803E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	803					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGATCAAGGGGGTCCCTTGTT	0.408													5	99	---	---	---	---	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			7	68	---	---	---	---	0	0
FAM134C	162427	broad.mit.edu	37	17	40734812	40734812	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr17:40734812T>C	ENST00000309428.5	-	8	882	c.823A>G	c.(823-825)Act>Gct	p.T275A	FAM134C_ENST00000543197.1_Missense_Mutation_p.T80A|FAM134C_ENST00000585894.1_Missense_Mutation_p.T178A	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	275						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTGGCAACAGTAGAATCGTCC	0.468													8	123	---	---	---	---	0	0
SLC16A3	9123	broad.mit.edu	37	17	80194039	80194039	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr17:80194039A>G	ENST00000581287.1	+	1	2477	c.155A>G	c.(154-156)gAg>gGg	p.E52G	SLC16A3_ENST00000392339.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000392341.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000582743.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000584781.1_3'UTR	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	52					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	CTCATACAGGAGTTTGGGATC	0.622													4	108	---	---	---	---	0	0
MAST1	22983	broad.mit.edu	37	19	12977541	12977541	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr19:12977541C>T	ENST00000251472.4	+	18	2143	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	702	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGTGGAAATCCGCCAGTTCTC	0.622													4	33	---	---	---	---	0	0
CACNG7	59284	broad.mit.edu	37	19	54444804	54444804	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr19:54444804C>A	ENST00000391767.1	+	5	717	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	CACNG7_ENST00000222212.2_Missense_Mutation_p.Q169K|CACNG7_ENST00000391766.1_Missense_Mutation_p.Q169K|CACNG7_ENST00000468076.1_3'UTR			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	169					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CAGCTCTGAGCAGTATTTTCA	0.547													7	103	---	---	---	---	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838616	43838616	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr21:43838616A>T	ENST00000319294.6	+	7	975	c.944A>T	c.(943-945)gAg>gTg	p.E315V	UBASH3A_ENST00000291535.6_Missense_Mutation_p.E277V|UBASH3A_ENST00000398367.1_Missense_Mutation_p.E277V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	315	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GAAGCCAGCGAGGGCTGGGTG	0.592													7	86	---	---	---	---	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185627	39185627	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A7NK-01A-12D-A34U-08	TCGA-EJ-A7NK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04c6e0d-2d89-46bc-abf3-4e1af709f68a	fcb74e20-c07f-4d98-b7ce-06fe7e073d14	g.chr3:39185627C>T	ENST00000273153.5	-	4	958		c.e4+1		CSRNP1_ENST00000514182.1_Splice_Site	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1						apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						AGCCACCACACCTGGCACTTG	0.592													5	47	---	---	---	---	0	0
PBRM1	55193	broad.mit.edu	37	3	52696223	52696223	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A7NK-01A-12D-A34U-08	TCGA-EJ-A7NK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04c6e0d-2d89-46bc-abf3-4e1af709f68a	fcb74e20-c07f-4d98-b7ce-06fe7e073d14	g.chr3:52696223C>A	ENST00000356770.4	-	4	456	c.454G>T	c.(454-456)Gtt>Ttt	p.V152F	PBRM1_ENST00000296302.7_Missense_Mutation_p.V152F|PBRM1_ENST00000409057.1_Missense_Mutation_p.V152F|PBRM1_ENST00000337303.4_Missense_Mutation_p.V152F|PBRM1_ENST00000409114.3_Missense_Mutation_p.V152F|PBRM1_ENST00000409767.1_Missense_Mutation_p.V152F|PBRM1_ENST00000410007.1_Missense_Mutation_p.V152F|PBRM1_ENST00000394830.3_Missense_Mutation_p.V152F			Q86U86	PB1_HUMAN	polybromo 1	152					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTTTCTGAACAAACTCATTT	0.408			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								6	120	---	---	---	---	0	0
PSG8	0	broad.mit.edu	37	19	43359755	43359755	+	Missense_Mutation	SNP	G	G	T	rs139331950	by1000genomes	TCGA-EJ-A7NK-01A-12D-A34U-08	TCGA-EJ-A7NK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04c6e0d-2d89-46bc-abf3-4e1af709f68a	fcb74e20-c07f-4d98-b7ce-06fe7e073d14	g.chr19:43359755G>T	ENST00000401467.2	-	1	88	c.17C>A	c.(16-18)gCc>gAc	p.A6D	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	6						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCAGGGAGGGGCTGAGAGGGG	0.577													5	105	---	---	---	---	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259746	32259746	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:32259746G>A	ENST00000360482.2	-	11	2491	c.2362C>T	c.(2362-2364)Ccc>Tcc	p.P788S	SPOCD1_ENST00000257100.3_Missense_Mutation_p.P281S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P788S|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	788					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGCAGTTGGGGTCTAAGAAG	0.637													17	36	---	---	---	---	0	0
C1orf177	163747	broad.mit.edu	37	1	55273356	55273356	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:55273356G>A	ENST00000358193.3	+	3	404	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	C1orf177_ENST00000371273.3_Missense_Mutation_p.R117Q	NM_152607.2	NP_689820	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	117										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AAAGAGAAGCGGCTGAAGGTG	0.617													4	14	---	---	---	---	0	0
KCND3	3752	broad.mit.edu	37	1	112525243	112525243	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:112525243T>A	ENST00000369697.1	-	1	175	c.106A>T	c.(106-108)Aag>Tag	p.K36*	KCND3_ENST00000302127.4_Nonsense_Mutation_p.K36*|KCND3_ENST00000315987.2_Nonsense_Mutation_p.K36*			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	36						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCCTGCCGCTTGTTCTTGTCG	0.687													5	51	---	---	---	---	0	0
WDR3	10885	broad.mit.edu	37	1	118484412	118484412	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:118484412A>G	ENST00000349139.5	+	9	978	c.931A>G	c.(931-933)Aaa>Gaa	p.K311E		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TATCCTTTCCAAAAAGGAAAT	0.323													11	26	---	---	---	---	0	0
HFE2	148738	broad.mit.edu	37	1	145414854	145414854	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:145414854C>A	ENST00000336751.5	+	2	311	c.73C>A	c.(73-75)Ctc>Atc	p.L25I	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	25					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACTCTCACTCTCCTGCTGCT	0.602													4	74	---	---	---	---	0	0
C1orf51	148523	broad.mit.edu	37	1	150259073	150259073	+	Missense_Mutation	SNP	G	G	A	rs147269137		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:150259073G>A	ENST00000290363.5	+	5	1314	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	C1orf51_ENST00000369094.1_Missense_Mutation_p.G201S|C1orf51_ENST00000369095.1_Missense_Mutation_p.G289S	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	289										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTGGAACCGGCATTGGCGT	0.552													5	156	---	---	---	---	0	0
PYHIN1	149628	broad.mit.edu	37	1	158943542	158943542	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:158943542C>A	ENST00000368140.1	+	8	1710	c.1465C>A	c.(1465-1467)Cca>Aca	p.P489T	PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P480T|PYHIN1_ENST00000392252.3_Intron	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	489					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAACCGCCATCCAGCAGTTCC	0.448													16	90	---	---	---	---	0	0
FCGR2B	2213	broad.mit.edu	37	1	161642793	161642793	+	Silent	SNP	G	G	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:161642793G>T	ENST00000367962.4	+	4	547	c.420G>T	c.(418-420)ctG>ctT	p.L140L	FCGR2B_ENST00000367961.4_Silent_p.L133L|FCGR2B_ENST00000236937.9_Silent_p.L140L|FCGR2B_ENST00000358671.5_Silent_p.L140L|FCGR2B_ENST00000428605.2_Silent_p.L140L|FCGR2B_ENST00000367960.5_Silent_p.L133L|FCGR2B_ENST00000403078.3_Silent_p.L140L|RP11-25K21.1_ENST00000453111.1_RNA			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	140	Ig-like C2-type 2.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCCTCACCTGGAGTTCCAGG	0.532			T	?	ALL								4	35	---	---	---	---	0	0
ACTA1	58	broad.mit.edu	37	1	229568848	229568848	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:229568848G>T	ENST00000366684.3	-	2	117	c.15C>A	c.(13-15)gaC>gaA	p.D5E	ACTA1_ENST00000366683.2_Missense_Mutation_p.D5E	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	5					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	p.D5D(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	CGGTGGTCTCGTCTTCGTCGC	0.657													38	93	---	---	---	---	0	0
FAM179A	165186	broad.mit.edu	37	2	29247231	29247231	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:29247231C>T	ENST00000379558.4	+	13	2195	c.1844C>T	c.(1843-1845)gCg>gTg	p.A615V	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A560V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	615							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTCACCTCGGCGGGTGTCTAG	0.617													4	14	---	---	---	---	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455178	37455178	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:37455178T>G	ENST00000234170.5	-	2	1303	c.1158A>C	c.(1156-1158)caA>caC	p.Q386H		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	386					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TATTTACCACTTGCACAAGAA	0.413													39	95	---	---	---	---	0	0
ERMN	57471	broad.mit.edu	37	2	158181230	158181230	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:158181230C>T	ENST00000410096.1	-	2	577	c.286G>A	c.(286-288)Gat>Aat	p.D96N	ERMN_ENST00000397283.2_Missense_Mutation_p.D109N|ERMN_ENST00000535935.1_5'UTR|ERMN_ENST00000409216.1_Missense_Mutation_p.D96N|ERMN_ENST00000420719.2_Intron|ERMN_ENST00000409925.1_Missense_Mutation_p.D96N	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	96						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AGAGAAAGATCTGTGATAGCC	0.303													9	32	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179558355	179558355	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:179558355C>A	ENST00000589042.1	-	119	31799	c.31575G>T	c.(31573-31575)agG>agT	p.R10525S	TTN_ENST00000342992.6_Missense_Mutation_p.R9281S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R10208S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10208	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGTTCAACCCTTTTGGAAA	0.289													3	20	---	---	---	---	0	0
PRSS50	29122	broad.mit.edu	37	3	46757061	46757061	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr3:46757061G>A	ENST00000460241.1	-	8	2104	c.434C>T	c.(433-435)tCc>tTc	p.S145F	PRSS50_ENST00000315170.7_Missense_Mutation_p.S145F			Q9UI38	TSP50_HUMAN	protease, serine, 50	145	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CACCCACTGGGAGGCAATGAT	0.647													8	22	---	---	---	---	0	0
H2AFZ	3015	broad.mit.edu	37	4	100870896	100870896	+	Splice_Site	SNP	G	G	C			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr4:100870896G>C	ENST00000296417.5	-	2	222	c.5C>G	c.(4-6)gCt>gGt	p.A2G	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	2	Required for interaction with INCENP (By similarity).				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTTACCGCCAGCCTGCGGCGC	0.662													34	61	---	---	---	---	0	0
ADCY2	108	broad.mit.edu	37	5	7698397	7698397	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:7698397G>A	ENST00000338316.4	+	7	1108	c.1019G>A	c.(1018-1020)tGc>tAc	p.C340Y	ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	340					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTAGGAGACTGCTACTACTGT	0.393													28	94	---	---	---	---	0	0
RGMB	285704	broad.mit.edu	37	5	98115452	98115452	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:98115452A>G	ENST00000308234.7	+	4	830	c.428A>G	c.(427-429)aAc>aGc	p.N143S	RGMB_ENST00000513185.1_Missense_Mutation_p.N102S|RGMB_ENST00000504776.1_3'UTR	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	102					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGCCGTGGCAACCTGGTATAC	0.547													9	38	---	---	---	---	0	0
MEGF10	84466	broad.mit.edu	37	5	126791206	126791206	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:126791206G>A	ENST00000274473.6	+	25	3406	c.3139G>A	c.(3139-3141)Ggt>Agt	p.G1047S	MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Missense_Mutation_p.G1047S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1047	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTCAGAGTGTGGTTATGTGGA	0.428													37	75	---	---	---	---	0	0
SLC23A1	9963	broad.mit.edu	37	5	138714919	138714919	+	Silent	SNP	G	G	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:138714919G>T	ENST00000353963.3	-	9	1100	c.1062C>A	c.(1060-1062)ccC>ccA	p.P354P	SLC23A1_ENST00000348729.3_Silent_p.P350P	NM_152685.3	NP_689898	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	350					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GTACTGGAGGGGGTGGTGCAC	0.607													33	60	---	---	---	---	0	0
ZBTB24	9841	broad.mit.edu	37	6	109802616	109802616	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr6:109802616C>T	ENST00000230122.3	-	2	781	c.614G>A	c.(613-615)gGt>gAt	p.G205D		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ATTCAGTACACCACTGTCTCC	0.413													56	161	---	---	---	---	0	0
AEBP1	165	broad.mit.edu	37	7	44153447	44153447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr7:44153447C>T	ENST00000223357.3	+	21	3369	c.3064C>T	c.(3064-3066)Cgc>Tgc	p.R1022C	AEBP1_ENST00000450684.2_Missense_Mutation_p.R597C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1022	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCAGCAGCGACGCCTACAACA	0.682													19	62	---	---	---	---	0	0
ZNF462	58499	broad.mit.edu	37	9	109701288	109701288	+	Silent	SNP	C	C	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr9:109701288C>G	ENST00000277225.5	+	7	6616	c.6327C>G	c.(6325-6327)gcC>gcG	p.A2109A	ZNF462_ENST00000542028.1_Silent_p.A66A|ZNF462_ENST00000441147.2_Silent_p.A1015A|ZNF462_ENST00000457913.1_Silent_p.A2169A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2109					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACGGAAAAGCCCTGACCCTCC	0.557													84	183	---	---	---	---	0	0
FGFR2	2263	broad.mit.edu	37	10	123325040	123325040	+	Silent	SNP	G	G	A	rs55806379		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr10:123325040G>A	ENST00000358487.5	-	3	560	c.288C>T	c.(286-288)ggC>ggT	p.G96G	FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000457416.2_Silent_p.G96G	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	96	Ig-like C2-type 1.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TAGGCGTGGCGCCCTTTATCT	0.522		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				5	91	---	---	---	---	0	0
ASB8	0	broad.mit.edu	37	12	48543215	48543215	+	Silent	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr12:48543215G>A	ENST00000317697.3	-	4	970	c.801C>T	c.(799-801)ctC>ctT	p.L267L	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Silent_p.L267L	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	267	SOCS box.				intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						CTGCATCGGGGAGATACTGGA	0.522													14	33	---	---	---	---	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50236869	50236869	+	Translation_Start_Site	SNP	A	A	C			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr12:50236869A>C	ENST00000333924.4	-	1	43	c.2T>G	c.(1-3)aTg>aGg	p.M1R		NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	1							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GGGCACCGCCATTAGCCTCAA	0.662													11	25	---	---	---	---	0	0
HOXC11	3227	broad.mit.edu	37	12	54369166	54369166	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr12:54369166T>C	ENST00000546378.1	+	2	1000	c.884T>C	c.(883-885)cTg>cCg	p.L295P	HOXC11_ENST00000243082.4_Silent_p.A296A			O43248	HXC11_HUMAN	homeobox C11	295					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						AGAGACCGGCTGCAGTATTTC	0.468			T	NUP98	AML								12	38	---	---	---	---	0	0
IFT88	8100	broad.mit.edu	37	13	21219039	21219039	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr13:21219039A>G	ENST00000382778.4	+	21	3036	c.1918A>G	c.(1918-1920)Att>Gtt	p.I640V	IFT88_ENST00000351808.5_Missense_Mutation_p.I631V|IFT88_ENST00000537103.1_Missense_Mutation_p.I612V|IFT88_ENST00000319980.6_Missense_Mutation_p.I640V			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	640					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGCCTATTACATTGACACCCA	0.318													31	84	---	---	---	---	0	0
XPO4	64328	broad.mit.edu	37	13	21401283	21401283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr13:21401283G>A	ENST00000400602.2	-	7	798	c.763C>T	c.(763-765)Caa>Taa	p.Q255*	XPO4_ENST00000255305.6_Nonsense_Mutation_p.Q255*	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	255					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGCACATTTTGCGAGGATTCA	0.393													19	44	---	---	---	---	0	0
METTL21C	196541	broad.mit.edu	37	13	103338687	103338687	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr13:103338687A>T	ENST00000267273.6	-	4	494	c.489T>A	c.(487-489)caT>caA	p.H163Q		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	163							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CTTCAGGCAGATGTGCTGTAC	0.418													19	42	---	---	---	---	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73464594	73464594	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr14:73464594C>G	ENST00000556143.1	-	3	1633	c.913G>C	c.(913-915)Gat>Cat	p.D305H	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.D305H|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.D305H	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	305						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAAGGGACATCCAGGCCACAG	0.542													17	24	---	---	---	---	0	0
AC004381.6	0	broad.mit.edu	37	16	20855295	20855295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr16:20855295C>T	ENST00000261377.6	+	16	1875	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	AC004381.6_ENST00000564274.1_Nonsense_Mutation_p.Q556*|AC004381.6_ENST00000348433.6_Intron|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AGAAGCTGCCCAGCTGGCCAT	0.483													22	70	---	---	---	---	0	0
KDM4B	23030	broad.mit.edu	37	19	5077467	5077467	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:5077467A>G	ENST00000159111.4	+	8	984	c.766A>G	c.(766-768)Atc>Gtc	p.I256V	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.I256V|KDM4B_ENST00000536461.1_Missense_Mutation_p.I256V	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	256	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GAAGTACGGGATCCCCTTCAG	0.642													4	150	---	---	---	---	0	0
ABHD8	79575	broad.mit.edu	37	19	17412032	17412032	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:17412032C>T	ENST00000247706.3	-	2	633	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	132							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ctgccgGGGGCCAAGCGGCCA	0.726													13	19	---	---	---	---	0	0
PSG7	5676	broad.mit.edu	37	19	43433714	43433714	+	RNA	SNP	C	C	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:43433714C>G	ENST00000406070.2	-	0	685				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CTGTTGGTTTCAGACAGCTGC	0.507													104	253	---	---	---	---	0	0
CCDC114	93233	broad.mit.edu	37	19	48801473	48801473	+	Silent	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:48801473C>T	ENST00000315396.7	-	11	1936	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	418										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GGAGCTCCACCAGCCGCTTCT	0.647													9	29	---	---	---	---	0	0
LRRN4	164312	broad.mit.edu	37	20	6031443	6031443	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr20:6031443T>C	ENST00000378858.4	-	3	1066	c.842A>G	c.(841-843)cAg>cGg	p.Q281R		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	281						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CAGAAGGACCTGTAGATGTGG	0.453													34	55	---	---	---	---	0	0
TRMT2A	27037	broad.mit.edu	37	22	20104421	20104421	+	Silent	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr22:20104421C>T	ENST00000252136.7	-	1	397	c.9G>A	c.(7-9)gaG>gaA	p.E3E	TRMT2A_ENST00000439169.2_Silent_p.E3E|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000404751.3_Silent_p.E3E|TRMT2A_ENST00000403707.3_Silent_p.E3E	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	3					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						TGTCGAGGTTCTCACTCATCG	0.657													3	3	---	---	---	---	0	0
MMP11	4320	broad.mit.edu	37	22	24124530	24124530	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr22:24124530A>G	ENST00000215743.3	+	7	1245	c.1193A>G	c.(1192-1194)aAc>aGc	p.N398S	AP000349.1_ENST00000598975.1_Silent_p.C228C	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	398	Hemopexin-like 3.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				CCCGAGAAGAACAAGATCTAC	0.647													10	42	---	---	---	---	0	0
CLCA4	22802	broad.mit.edu	37	1	87045673	87045673	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:87045673A>G	ENST00000370563.3	+	14	2447	c.2405A>G	c.(2404-2406)gAc>gGc	p.D802G	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	802						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GATCTAAGAGACAGTTTTGAT	0.343													5	51	---	---	---	---	0	0
TRIM67	440730	broad.mit.edu	37	1	231337222	231337222	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:231337222A>C	ENST00000444294.3	+	5	2351	c.1493A>C	c.(1492-1494)cAg>cCg	p.Q498P	TRIM67_ENST00000449018.3_Missense_Mutation_p.Q436P|TRIM67_ENST00000366652.2_Missense_Mutation_p.Q498P|TRIM67_ENST00000366653.5_Missense_Mutation_p.Q498P	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	498	COS.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCGCTGCTGCAGGCCATCCAC	0.572													5	19	---	---	---	---	0	0
DPP10	57628	broad.mit.edu	37	2	116066820	116066820	+	Silent	SNP	G	G	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:116066820G>T	ENST00000410059.1	+	2	546	c.66G>T	c.(64-66)ctG>ctT	p.L22L	DPP10_ENST00000393147.2_Silent_p.L26L|DPP10_ENST00000310323.8_Silent_p.L15L|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	22	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGTAGGAACTGGGAAGTAACA	0.393													14	32	---	---	---	---	0	0
DPP10	57628	broad.mit.edu	37	2	116066821	116066821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:116066821G>T	ENST00000410059.1	+	2	547	c.67G>T	c.(67-69)Gga>Tga	p.G23*	DPP10_ENST00000393147.2_Nonsense_Mutation_p.G27*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G16*|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	23	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTAGGAACTGGGAAGTAACAG	0.393													15	32	---	---	---	---	0	0
LIMD1	8994	broad.mit.edu	37	3	45637533	45637533	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr3:45637533C>T	ENST00000273317.4	+	1	1183	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.L388F	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	388					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCCACCAGTCTTGTCCATCC	0.612													14	20	---	---	---	---	0	0
IMPDH2	3615	broad.mit.edu	37	3	49065748	49065748	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr3:49065748C>T	ENST00000326739.4	-	4	296	c.257G>A	c.(256-258)gGc>gAc	p.G86D		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	86					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	GCCAATACCGCCTGTAAGCTA	0.493													8	61	---	---	---	---	0	0
PACSIN1	0	broad.mit.edu	37	6	34499460	34499460	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr6:34499460C>A	ENST00000538621.1	+	9	1366	c.1121C>A	c.(1120-1122)aCc>aAc	p.T374N	PACSIN1_ENST00000374043.2_Missense_Mutation_p.T332N|PACSIN1_ENST00000244458.2_Missense_Mutation_p.T374N	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	374					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGCAGTGAGACCAACGGGGGC	0.627													13	148	---	---	---	---	0	0
HOXA9	3205	broad.mit.edu	37	7	27204581	27204581	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:27204581T>A	ENST00000343483.6	-	1	568	c.496A>T	c.(496-498)Aga>Tga	p.R166*	RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Nonsense_Mutation_p.R6*|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	166							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TGTTTTTCTCTATCAACTGGA	0.537			T	"""NUP98, MSI2"""	AML*								9	50	---	---	---	---	0	0
LMOD2	442721	broad.mit.edu	37	7	123302800	123302800	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:123302800C>A	ENST00000458573.2	+	2	1317	c.1160C>A	c.(1159-1161)tCt>tAt	p.S387Y	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	387	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding										ACACCTAGCTCTTCACCTTAT	0.512													31	79	---	---	---	---	0	0
RFX3	5991	broad.mit.edu	37	9	3293175	3293175	+	Silent	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:3293175G>A	ENST00000382004.3	-	7	944	c.633C>T	c.(631-633)caC>caT	p.H211H	RFX3_ENST00000302303.1_Silent_p.H211H|RFX3_ENST00000358730.2_Silent_p.H211H	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	211					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTTCCTGACAGTGTCGAAGGT	0.463													5	80	---	---	---	---	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504838	18504838	+	Silent	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:18504838C>T	ENST00000380548.4	+	2	414	c.75C>T	c.(73-75)acC>acT	p.T25T	ADAMTSL1_ENST00000327883.7_Silent_p.T25T|ADAMTSL1_ENST00000380566.4_Silent_p.T25T|ADAMTSL1_ENST00000431052.2_Silent_p.T25T|ADAMTSL1_ENST00000276935.6_Silent_p.T25T|ADAMTSL1_ENST00000380570.4_Silent_p.T25T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	25						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTTCCAGGACCGCACGCTCCG	0.577													5	81	---	---	---	---	0	0
ACBD5	91452	broad.mit.edu	37	10	27499985	27499985	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr10:27499985T>C	ENST00000396271.3	-	9	1088	c.962A>G	c.(961-963)aAt>aGt	p.N321S	ACBD5_ENST00000375905.4_Missense_Mutation_p.N286S|ACBD5_ENST00000375888.1_Missense_Mutation_p.N330S|ACBD5_ENST00000375897.3_Missense_Mutation_p.N144S|ACBD5_ENST00000375901.1_Missense_Mutation_p.N212S|ACBD5_ENST00000476758.1_5'UTR	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	330					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AAATGGTCCATTGTTGGACGT	0.363													13	88	---	---	---	---	0	0
NUDT13	25961	broad.mit.edu	37	10	74881976	74881976	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr10:74881976A>C	ENST00000357321.4	+	4	385	c.267A>C	c.(265-267)agA>agC	p.R89S	NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.R89S|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Missense_Mutation_p.R89S	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	89							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					ATGCACAAAGAATAGAAGATT	0.433													5	129	---	---	---	---	0	0
NAV2	89797	broad.mit.edu	37	11	20078087	20078087	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:20078087A>G	ENST00000540292.1	+	22	4705	c.4705A>G	c.(4705-4707)Aaa>Gaa	p.K1569E	NAV2_ENST00000311043.8_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000396087.3_Missense_Mutation_p.K1638E|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000527559.2_Missense_Mutation_p.K1567E			Q8IVL1	NAV2_HUMAN	neuron navigator 2	1638	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ATCATGGGAGAAAAGTTCTGT	0.383													15	49	---	---	---	---	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604621	58604621	+	Silent	SNP	T	T	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:58604621T>G	ENST00000287275.1	-	5	733	c.343A>C	c.(343-345)Aga>Cga	p.R115R	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.R115R	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	115						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCAACCTTTCTTATTGCTTCA	0.398													42	86	---	---	---	---	0	0
BSX	390259	broad.mit.edu	37	11	122848488	122848488	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:122848488C>A	ENST00000343035.2	-	3	619	c.571G>T	c.(571-573)Ggt>Tgt	p.G191C		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	191										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCCTCTGAACCGCGGGGGCTG	0.657													10	25	---	---	---	---	0	0
PPP2R5E	5529	broad.mit.edu	37	14	64006397	64006397	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr14:64006397A>G	ENST00000337537.3	-	2	609	c.7T>C	c.(7-9)Tca>Cca	p.S3P	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S3P	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	3					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTTGGTGCTGAGGACATATCC	0.418													14	48	---	---	---	---	0	0
BBS4	585	broad.mit.edu	37	15	73007695	73007695	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr15:73007695T>A	ENST00000268057.4	+	5	325	c.284T>A	c.(283-285)gTt>gAt	p.V95D	BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.V83D|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.V103D	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	95					adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACATGTGCAGTTCTTAGTCCT	0.433									Bardet-Biedl syndrome				16	33	---	---	---	---	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651127	75651127	+	Missense_Mutation	SNP	C	C	T	rs140277288	byFrequency	TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr15:75651127C>T	ENST00000565683.1	-	19	2226	c.2215G>A	c.(2215-2217)Gtg>Atg	p.V739M	MAN2C1_ENST00000267978.5_Missense_Mutation_p.V722M|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V623M|MAN2C1_ENST00000569482.1_Missense_Mutation_p.V722M	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	722					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGTTCCCCACGGCGCCCTCA	0.572													3	41	---	---	---	---	0	0
ITFG1	81533	broad.mit.edu	37	16	47493029	47493029	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr16:47493029A>G	ENST00000320640.6	-	2	494	c.266T>C	c.(265-267)gTa>gCa	p.V89A	ITFG1_ENST00000544001.2_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	89						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGATACCTTTACTTTGGGTTT	0.274													14	57	---	---	---	---	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66770010	66770010	+	Silent	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr16:66770010G>A	ENST00000258198.2	-	5	873	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	DYNC1LI2_ENST00000443351.2_Silent_p.L146L|DYNC1LI2_ENST00000440564.2_Silent_p.L184L|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	223					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GGGATCCCCAGGTTATGAGTC	0.552													4	50	---	---	---	---	0	0
KMT2B	9757	broad.mit.edu	37	19	36213342	36213342	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:36213342G>A	ENST00000222270.7	+	4	2539	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E847K	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		GTCTGAAGATGAGTCGGTGGA	0.637													6	18	---	---	---	---	0	0
PSG4	5672	broad.mit.edu	37	19	43698504	43698504	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:43698504C>T	ENST00000405312.3	-	5	1468	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I	PSG4_ENST00000244295.9_Missense_Mutation_p.V318I|PSG4_ENST00000433626.2_Missense_Mutation_p.V318I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	411					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GAGACTTTGACTGTGATGGAT	0.453													76	210	---	---	---	---	0	0
LILRB5	0	broad.mit.edu	37	19	54760375	54760375	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:54760375T>A	ENST00000450632.1	-	3	409	c.332A>T	c.(331-333)gAc>gTc	p.D111V	LILRB5_ENST00000316219.5_Missense_Mutation_p.D111V|LILRB5_ENST00000345866.6_Missense_Mutation_p.D111V|LILRB5_ENST00000449561.2_Missense_Mutation_p.D111V			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	111	Ig-like C2-type 1.|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCCAGGGGGTCACTGGGCTC	0.622													32	93	---	---	---	---	0	0
TTLL12	23170	broad.mit.edu	37	22	43576901	43576901	+	Silent	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr22:43576901C>T	ENST00000216129.6	-	3	456	c.393G>A	c.(391-393)gcG>gcA	p.A131A		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	131					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCTGCTGGCGCGCGTGCTCCA	0.667													4	69	---	---	---	---	0	0
VCX	26609	broad.mit.edu	37	X	7811726	7811726	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:7811726A>G	ENST00000381059.3	+	3	509	c.290A>G	c.(289-291)gAg>gGg	p.E97G	VCX_ENST00000341408.4_Missense_Mutation_p.E97G	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	97	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCAGTGAGCGAGGGGACCCAG	0.697													4	79	---	---	---	---	0	0
L1CAM	3897	broad.mit.edu	37	X	153137810	153137810	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:153137810C>T	ENST00000370060.1	-	5	387		c.e5-1		L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000370055.1_Splice_Site	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule						axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCGGAACCTGTGGGCGGA	0.647													7	9	---	---	---	---	0	0
ASH1L	55870	broad.mit.edu	37	1	155429593	155429593	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:155429593G>C	ENST00000368346.3	-	4	5720	c.5081C>G	c.(5080-5082)tCa>tGa	p.S1694*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1694*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1694	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTAGCCTGTTGAAGAAGTACT	0.423													7	16	---	---	---	---	0	0
SMG7	9887	broad.mit.edu	37	1	183514379	183514379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:183514379C>T	ENST00000367537.3	+	17	2446	c.2251C>T	c.(2251-2253)Caa>Taa	p.Q751*	SMG7_ENST00000507469.1_Nonsense_Mutation_p.Q722*|SMG7_ENST00000515829.2_Nonsense_Mutation_p.Q722*|SMG7_ENST00000347615.2_Nonsense_Mutation_p.Q768*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.Q726*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.Q680*			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	768	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACTCAGCAACAACAATCCCC	0.512													4	74	---	---	---	---	0	0
LRRN2	10446	broad.mit.edu	37	1	204589109	204589109	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:204589109G>A	ENST00000367175.1	-	1	2224	c.12C>T	c.(10-12)ctC>ctT	p.L4L	LRRN2_ENST00000367177.3_Silent_p.L4L|LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Silent_p.L4L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	4					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTGGGGCCACGAGAAGCCTCA	0.617													3	5	---	---	---	---	0	0
NUP133	55746	broad.mit.edu	37	1	229580721	229580721	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:229580721G>A	ENST00000261396.3	-	25	3365	c.3274C>T	c.(3274-3276)Cca>Tca	p.P1092S	NUP133_ENST00000537506.1_Missense_Mutation_p.P1076S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1092					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACTTCAATTGGATCATCTTTG	0.318													31	98	---	---	---	---	0	0
OTX1	5013	broad.mit.edu	37	2	63282953	63282953	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr2:63282953G>A	ENST00000282549.2	+	5	843	c.567G>A	c.(565-567)gcG>gcA	p.A189A	OTX1_ENST00000366671.3_Silent_p.A189A	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	189						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CAGCGCCCGCGTCCGTGTCGG	0.682													7	11	---	---	---	---	0	0
MLPH	79083	broad.mit.edu	37	2	238402143	238402143	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr2:238402143A>T	ENST00000264605.3	+	2	368	c.74A>T	c.(73-75)gAt>gTt	p.D25V	MLPH_ENST00000338530.4_Missense_Mutation_p.D25V|MLPH_ENST00000409373.1_Missense_Mutation_p.D25V|MLPH_ENST00000410032.1_Missense_Mutation_p.D25V|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.D25V	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	25	RabBD.						metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GTTCAACGAGATTTTGACCTC	0.542													22	74	---	---	---	---	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351353	40351353	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:40351353A>G	ENST00000310169.2	+	4	959	c.820A>G	c.(820-822)Acc>Gcc	p.T274A		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	274					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CCTGGGAGTGACCATCCTGTT	0.507													84	151	---	---	---	---	0	0
ELF2	1998	broad.mit.edu	37	4	139980684	139980684	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:139980684G>C	ENST00000394235.2	-	10	1701	c.1199C>G	c.(1198-1200)tCa>tGa	p.S400*	ELF2_ENST00000379549.2_Nonsense_Mutation_p.S323*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.S352*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.S400*|ELF2_ENST00000379550.1_Nonsense_Mutation_p.S412*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.S340*|ELF2_ENST00000515489.1_Intron	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	412					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TGCATTAACTGACTGAACTGC	0.433													4	105	---	---	---	---	0	0
FAT1	2195	broad.mit.edu	37	4	187540591	187540591	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:187540591G>A	ENST00000441802.2	-	10	7358	c.7149C>T	c.(7147-7149)ctC>ctT	p.L2383L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2383	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATTATCATTGAGGTCGGTAA	0.502										HNSCC(5;0.00058)			18	44	---	---	---	---	0	0
PDZD2	23037	broad.mit.edu	37	5	32089032	32089032	+	Silent	SNP	T	T	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:32089032T>C	ENST00000438447.1	+	20	5866	c.5478T>C	c.(5476-5478)ccT>ccC	p.P1826P	PDZD2_ENST00000282493.3_Silent_p.P1826P			O15018	PDZD2_HUMAN	PDZ domain containing 2	1826					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCTAATGCCTGCCAGAAGTC	0.468													29	46	---	---	---	---	0	0
EGR1	1958	broad.mit.edu	37	5	137802637	137802637	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:137802637C>G	ENST00000239938.4	+	2	771	c.499C>G	c.(499-501)Cca>Gca	p.P167A		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	167					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATGACCAACCCACCGGCCTC	0.652													48	74	---	---	---	---	0	0
PCDHA7	0	broad.mit.edu	37	5	140215504	140215504	+	Silent	SNP	G	G	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:140215504G>T	ENST00000525929.1	+	1	1536	c.1536G>T	c.(1534-1536)gcG>gcT	p.A512A	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.A512A|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCACGCGGAGAGCGGCA	0.701													61	101	---	---	---	---	0	0
GTF3C6	112495	broad.mit.edu	37	6	111288987	111288987	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr6:111288987G>A	ENST00000329970.7	+	6	846	c.636G>A	c.(634-636)ctG>ctA	p.L212L	GTF3C6_ENST00000480191.1_3'UTR	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	212						transcription factor TFIIIC complex	DNA binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		CTCAAATGCTGCCTTAGAAAT	0.338													3	29	---	---	---	---	0	0
TIAM2	26230	broad.mit.edu	37	6	155565186	155565186	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr6:155565186G>C	ENST00000461783.3	+	19	4663	c.3390G>C	c.(3388-3390)caG>caC	p.Q1130H	TIAM2_ENST00000367174.2_Missense_Mutation_p.Q506H|TIAM2_ENST00000529824.2_Missense_Mutation_p.Q1130H|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q1130H|TIAM2_ENST00000456877.2_Missense_Mutation_p.Q442H|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q1154H|TIAM2_ENST00000528391.2_Missense_Mutation_p.Q466H|TIAM2_ENST00000275246.7_Missense_Mutation_p.Q55H|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q1130H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1130	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCACTTCAGAATGAGACCT	0.398													39	65	---	---	---	---	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519779	113519779	+	Silent	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr7:113519779G>C	ENST00000284601.3	-	4	1436	c.1368C>G	c.(1366-1368)ccC>ccG	p.P456P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	456					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GATCTGAAGAGGGGCAAGGTA	0.398													5	103	---	---	---	---	0	0
KIAA1147	57189	broad.mit.edu	37	7	141385300	141385300	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr7:141385300G>C	ENST00000536163.1	-	3	504	c.505C>G	c.(505-507)Cac>Gac	p.H169D	KIAA1147_ENST00000482493.1_Missense_Mutation_p.H78D	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	169										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TCCAAGAAGTGCATGTAGCGG	0.592													51	77	---	---	---	---	0	0
ADHFE1	137872	broad.mit.edu	37	8	67356974	67356974	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr8:67356974C>T	ENST00000396623.3	+	5	375	c.344C>T	c.(343-345)aCg>aTg	p.T115M	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T115M|ADHFE1_ENST00000415254.1_Missense_Mutation_p.T67M	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	115					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	p.T67M(1)|p.T115M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GTGGAACCAACGGATTCAAGG	0.438													4	195	---	---	---	---	0	0
SMC2	10592	broad.mit.edu	37	9	106876995	106876995	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr9:106876995G>C	ENST00000286398.7	+	13	1844	c.1556G>C	c.(1555-1557)aGa>aCa	p.R519T	SMC2_ENST00000303219.8_Missense_Mutation_p.R519T|SMC2_ENST00000374787.3_Missense_Mutation_p.R519T|SMC2_ENST00000374793.3_Missense_Mutation_p.R519T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	519	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACTGGAATAGAAATTGTGTG	0.358													26	54	---	---	---	---	0	0
ITIH2	3698	broad.mit.edu	37	10	7745433	7745433	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr10:7745433T>A	ENST00000358415.4	+	1	202	c.36T>A	c.(34-36)ttT>ttA	p.F12L	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.F12L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	12					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTGCTTCTTTCTTTCTGAAG	0.428													37	95	---	---	---	---	0	0
FAM178A	0	broad.mit.edu	37	10	102684014	102684014	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr10:102684014C>G	ENST00000238961.4	+	5	1798	c.1256C>G	c.(1255-1257)tCt>tGt	p.S419C	FAM178A_ENST00000370269.3_Missense_Mutation_p.S419C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S419C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		GGCCACCATTCTACCAGGAAT	0.443													48	65	---	---	---	---	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104212714	104212714	+	Silent	SNP	T	T	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr14:104212714T>C	ENST00000202556.9	-	9	1428	c.1146A>G	c.(1144-1146)aaA>aaG	p.K382K	PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	382					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ACTCACCGGATTTGGATCTTC	0.607													15	17	---	---	---	---	0	0
EPB42	2038	broad.mit.edu	37	15	43500934	43500934	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr15:43500934G>A	ENST00000300215.3	-	7	1419	c.962C>T	c.(961-963)aCg>aTg	p.T321M	EPB42_ENST00000441366.2_Missense_Mutation_p.T291M|EPB42_ENST00000540029.1_Missense_Mutation_p.T213M			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	291					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGAGGCAAACGTGGTCACCAC	0.612													31	54	---	---	---	---	0	0
TRAP1	10131	broad.mit.edu	37	16	3713497	3713497	+	Missense_Mutation	SNP	T	T	G	rs143144399		TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr16:3713497T>G	ENST00000575671.1	-	9	1738	c.1009A>C	c.(1009-1011)Aag>Cag	p.K337Q	DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000246957.5_Missense_Mutation_p.K546Q|TRAP1_ENST00000538171.1_Missense_Mutation_p.K493Q			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	546					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GAGATCAGCTTCTTCTTGTCA	0.552													22	53	---	---	---	---	0	0
MYH11	4629	broad.mit.edu	37	16	15808890	15808890	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr16:15808890C>T	ENST00000452625.2	-	41	5770	c.5683G>A	c.(5683-5685)Gag>Aag	p.E1895K	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.E1895K|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.E1888K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1888K	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1888					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCTCTGCCTCCTCCAGCTGC	0.667			T	CBFB	AML								62	179	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr17:47696643A>G	ENST00000393331.3	-	6	775	c.305T>C	c.(304-306)tTc>tCc	p.F102S	SPOP_ENST00000504102.1_Missense_Mutation_p.F102S|SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000393328.2_Missense_Mutation_p.F102S|SPOP_ENST00000347630.2_Missense_Mutation_p.F102S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)			55	72	---	---	---	---	0	0
ALPK2	115701	broad.mit.edu	37	18	56246451	56246451	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr18:56246451T>A	ENST00000361673.3	-	4	1770	c.1557A>T	c.(1555-1557)agA>agT	p.R519S		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	519							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCCCCCCACTCTCTTGTCAG	0.522											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	105	---	---	---	---	0	0
DNASE2	1777	broad.mit.edu	37	19	12986907	12986907	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr19:12986907C>A	ENST00000222219.3	-	6	1072	c.980G>T	c.(979-981)tGt>tTt	p.C327F	DNASE2_ENST00000538460.1_Missense_Mutation_p.C272F	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	327					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CAGCTGGGCACACAGTGTGCC	0.602													37	59	---	---	---	---	0	0
CYP2A13	1553	broad.mit.edu	37	19	41595990	41595990	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr19:41595990C>T	ENST00000330436.3	+	3	382	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	128					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CAAGCAGCTCCGGCGCTTCTC	0.701													3	23	---	---	---	---	0	0
PDE9A	5152	broad.mit.edu	37	21	44190855	44190855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr21:44190855G>T	ENST00000291539.6	+	18	1693	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	PDE9A_ENST00000398227.3_Nonsense_Mutation_p.E385*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.E519*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.E418*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.E478*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.E417*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.E443*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.E417*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.E411*|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.E485*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.E492*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.E444*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.E459*|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.E504*	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	545	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GCCACTTTGGGAATCCCGAGA	0.527													21	6	---	---	---	---	0	0
NKAP	79576	broad.mit.edu	37	X	119077407	119077407	+	Silent	SNP	A	A	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chrX:119077407A>G	ENST00000371410.3	-	1	328	c.162T>C	c.(160-162)aaT>aaC	p.N54N		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	54	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GGGTGAGTCCATTCCGGTCCC	0.682													5	1	---	---	---	---	0	0
FMN2	56776	broad.mit.edu	37	1	240492719	240492719	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr1:240492719G>T	ENST00000319653.9	+	10	4618	c.4388G>T	c.(4387-4389)aGc>aTc	p.S1463I	FMN2_ENST00000545751.1_Missense_Mutation_p.S59I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1463	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTTCAGAAAGCATTTGCTCA	0.408													5	80	---	---	---	---	0	0
ZNF638	27332	broad.mit.edu	37	2	71654016	71654016	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr2:71654016G>T	ENST00000409544.1	+	24	5647	c.5017G>T	c.(5017-5019)Gat>Tat	p.D1673Y	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.D613Y|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1673Y	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1673					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGAAGAACAAGATCTCCTCAA	0.378													4	85	---	---	---	---	0	0
CNTN4	152330	broad.mit.edu	37	3	2944670	2944670	+	Silent	SNP	C	C	T			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr3:2944670C>T	ENST00000397461.1	+	11	1572	c.1188C>T	c.(1186-1188)aaC>aaT	p.N396N	CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000358480.3_Silent_p.N177N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000475817.1_3'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	396	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTTTTCCAACGCAGAGCTTA	0.353													4	51	---	---	---	---	0	0
DNAJC2	27000	broad.mit.edu	37	7	102953049	102953049	+	Silent	SNP	T	T	C			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr7:102953049T>C	ENST00000379263.3	-	17	2083	c.1833A>G	c.(1831-1833)gaA>gaG	p.E611E	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.E558E|PMPCB_ENST00000249269.4_3'UTR	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	611					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TCAGCACTTGTTCTTGAGCAG	0.328													6	91	---	---	---	---	0	0
TMEM71	137835	broad.mit.edu	37	8	133764058	133764058	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr8:133764058C>T	ENST00000356838.3	-	4	429	c.287G>A	c.(286-288)aGc>aAc	p.S96N	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S96N|TMEM71_ENST00000523829.1_Missense_Mutation_p.S96N	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	96						integral to membrane		p.S96T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATACATAACGCTGGTCTGGGA	0.403													7	115	---	---	---	---	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130688198	130688198	+	Silent	SNP	G	G	A			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr9:130688198G>A	ENST00000388747.4	-	8	755	c.711C>T	c.(709-711)ccC>ccT	p.P237P	PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Silent_p.P34P	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	237	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CCAGAACAAGGGGGCTGCCCT	0.582													3	52	---	---	---	---	0	0
OR4D5	219875	broad.mit.edu	37	11	123810795	123810795	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr11:123810795G>A	ENST00000307033.2	+	1	546	c.472G>A	c.(472-474)Gta>Ata	p.V158I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCACTCCATAGTACAGATTGC	0.512													4	91	---	---	---	---	0	0
FBXO21	23014	broad.mit.edu	37	12	117624369	117624369	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr12:117624369C>T	ENST00000427718.2	-	3	457	c.383G>A	c.(382-384)tGt>tAt	p.C128Y	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000330622.5_Missense_Mutation_p.C128Y	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	128					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GAAGCCATTACAAGGAACCTA	0.383													7	76	---	---	---	---	0	0
CABIN1	23523	broad.mit.edu	37	22	24530349	24530349	+	Silent	SNP	C	C	G			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr22:24530349C>G	ENST00000398319.2	+	29	5098	c.4713C>G	c.(4711-4713)ctC>ctG	p.L1571L	CABIN1_ENST00000405822.2_Silent_p.L1492L|CABIN1_ENST00000263119.5_Silent_p.L1571L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1571					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CACAGGGGCTCTTCTGCGAGA	0.532													3	18	---	---	---	---	0	0
LRP5L	91355	broad.mit.edu	37	22	25753228	25753228	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr22:25753228C>G	ENST00000444995.3	-	5	1132	c.432G>C	c.(430-432)aaG>aaC	p.K144N	LRP5L_ENST00000402859.2_Missense_Mutation_p.K144N|LRP5L_ENST00000402785.2_Missense_Mutation_p.K144N			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	144										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCACCTCGATCTTGTCTGTCT	0.657													5	45	---	---	---	---	0	0
FAM83F	113828	broad.mit.edu	37	22	40415250	40415250	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr22:40415250G>C	ENST00000333407.6	+	2	662	c.568G>C	c.(568-570)Gtc>Ctc	p.V190L	FAM83F_ENST00000473717.1_Missense_Mutation_p.V22L	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F											breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TAAGCGCCGGGTCCCAGTGTA	0.532													3	83	---	---	---	---	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565214	156565214	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:156565214T>C	ENST00000368232.4	-	8	1036	c.904A>G	c.(904-906)Aag>Gag	p.K302E	GPATCH4_ENST00000438976.2_Missense_Mutation_p.K307E	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	302						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCCCCATCTTCTCCTCTTCA	0.537													25	172	---	---	---	---	0	0
FCGR2A	2212	broad.mit.edu	37	1	161479821	161479821	+	Silent	SNP	C	C	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:161479821C>A	ENST00000271450.6	+	4	614	c.576C>A	c.(574-576)ggC>ggA	p.G192G	FCGR2A_ENST00000367972.4_Silent_p.G191G	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	192	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAACATAGGCTACACGCTGT	0.512													12	89	---	---	---	---	0	0
ZAP70	7535	broad.mit.edu	37	2	98351131	98351131	+	Silent	SNP	C	C	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:98351131C>T	ENST00000264972.5	+	9	1253	c.1038C>T	c.(1036-1038)tgC>tgT	p.C346C	ZAP70_ENST00000442208.1_Silent_p.C220C|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.C39C	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	346	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AACTTGGCTGCGGCAACTTTG	0.627													35	136	---	---	---	---	0	0
EPB41L5	57669	broad.mit.edu	37	2	120918486	120918486	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:120918486T>C	ENST00000263713.5	+	21	2037	c.1823T>C	c.(1822-1824)cTc>cCc	p.L608P	EPB41L5_ENST00000443902.2_Missense_Mutation_p.L608P|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L608P|EPB41L5_ENST00000488691.1_3'UTR	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	608						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AATGTGCCCCTCCCCAAAGAG	0.393													3	167	---	---	---	---	0	0
USP37	57695	broad.mit.edu	37	2	219353074	219353074	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:219353074G>T	ENST00000258399.3	-	15	1955	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T	USP37_ENST00000454775.1_Missense_Mutation_p.P515T|USP37_ENST00000418019.1_Missense_Mutation_p.P515T|USP37_ENST00000415516.1_Missense_Mutation_p.P443T	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	515					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGAGGGAGTGGTTTTTTCCTA	0.323													8	85	---	---	---	---	0	0
SCN10A	6336	broad.mit.edu	37	3	38766807	38766807	+	Splice_Site	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr3:38766807T>C	ENST00000449082.2	-	17	3087		c.e17-2			NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit						sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGCTCCTGCTAGTGAGAGAG	0.582													7	28	---	---	---	---	0	0
DNAJC13	23317	broad.mit.edu	37	3	132196839	132196839	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr3:132196839A>G	ENST00000260818.6	+	24	2812	c.2564A>G	c.(2563-2565)aAt>aGt	p.N855S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	855							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAATTTTTCAATGAGCTTTAT	0.343													5	25	---	---	---	---	0	0
OTUD4	54726	broad.mit.edu	37	4	146058891	146058891	+	Silent	SNP	A	A	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:146058891A>C	ENST00000454497.2	-	21	2978	c.2841T>G	c.(2839-2841)gtT>gtG	p.V947V	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.V1012V	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1011							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTCTGCTATCAACAGAGTTGG	0.388													3	166	---	---	---	---	0	0
SNRPC	6631	broad.mit.edu	37	6	34738121	34738121	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:34738121A>T	ENST00000374017.3	+	4	654	c.367A>T	c.(367-369)Atg>Ttg	p.M123L	SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000374018.1_Missense_Mutation_p.M61L|SNRPC_ENST00000244520.5_Missense_Mutation_p.M102L			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	102					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGGCCCTCCCATGATGCCAAT	0.502													16	90	---	---	---	---	0	0
MRPL2	51069	broad.mit.edu	37	6	43023654	43023654	+	Silent	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:43023654G>A	ENST00000388752.3	-	5	1036	c.612C>T	c.(610-612)gcC>gcT	p.A204A	MRPL2_ENST00000230413.5_Silent_p.A204A|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	204					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GGATATATTGGGCACCCCGGC	0.557													5	50	---	---	---	---	0	0
DST	667	broad.mit.edu	37	6	56470845	56470845	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:56470845C>G	ENST00000370754.5	-	39	8481	c.8482G>C	c.(8482-8484)Gat>Cat	p.D2828H	DST_ENST00000312431.6_Missense_Mutation_p.D2650H|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.D2650H|DST_ENST00000361203.3_Missense_Mutation_p.D2650H|DST_ENST00000446842.2_Missense_Mutation_p.D2324H|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2650					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCATTTTATCCAGAAGAATC	0.328													7	64	---	---	---	---	0	0
CHD7	55636	broad.mit.edu	37	8	61777895	61777895	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr8:61777895G>A	ENST00000423902.2	+	38	8876	c.8397G>A	c.(8395-8397)atG>atA	p.M2799I	CHD7_ENST00000524602.1_Missense_Mutation_p.M750I	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2799					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGCCCCTGATGCTGCCAGGAA	0.622													3	14	---	---	---	---	0	0
CDH23	64072	broad.mit.edu	37	10	73574941	73574941	+	Missense_Mutation	SNP	A	A	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr10:73574941A>C	ENST00000224721.6	+	69	9991	c.9986A>C	c.(9985-9987)gAg>gCg	p.E3329A	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.E1084A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3324					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTGCCTTCGAGCGCAACGCC	0.642													4	16	---	---	---	---	0	0
NUP107	57122	broad.mit.edu	37	12	69085781	69085781	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:69085781G>T	ENST00000229179.4	+	5	669	c.337G>T	c.(337-339)Gca>Tca	p.A113S	NUP107_ENST00000539906.1_Missense_Mutation_p.A84S|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	113					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGGGCAGCTGCATTTTCATC	0.393													6	42	---	---	---	---	0	0
HECTD4	283450	broad.mit.edu	37	12	112673539	112673539	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:112673539G>A	ENST00000550722.1	-	36	5451	c.5056C>T	c.(5056-5058)Ctc>Ttc	p.L1686F	HECTD4_ENST00000430131.2_Missense_Mutation_p.L1410F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L1660F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGGGAGAGGAGTTTGGACACA	0.522													4	20	---	---	---	---	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46918950	46918950	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:46918950C>A	ENST00000429979.1	-	14	2406	c.1802G>T	c.(1801-1803)gGc>gTc	p.G601V	KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G444V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G444V|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G601V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G534V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G466V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A550S|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A550S|KIAA0226L_ENST00000378781.3_3'UTR	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	601										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ACAAATAAAGCCCTTTCCTTG	0.338													3	25	---	---	---	---	0	0
SLC7A8	23428	broad.mit.edu	37	14	23652104	23652104	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:23652104T>C	ENST00000316902.7	-	1	745	c.20A>G	c.(19-21)cAc>cGc	p.H7R	SLC7A8_ENST00000469263.1_Missense_Mutation_p.H7R	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	7					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTTGTTTCGGTGCCTGGCTCC	0.537													6	186	---	---	---	---	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941915	6941915	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr17:6941915T>A	ENST00000308027.6	+	3	1096	c.788T>A	c.(787-789)cTc>cAc	p.L263H		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	263						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTCTGACCTCGTGGGGCGT	0.587													12	123	---	---	---	---	0	0
ZNF146	7705	broad.mit.edu	37	19	36728180	36728180	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:36728180A>T	ENST00000456324.1	+	3	2287	c.838A>T	c.(838-840)Aag>Tag	p.K280*	ZNF146_ENST00000443387.2_Nonsense_Mutation_p.K280*|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	280	Interaction with TERF2IP.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TTTCAGCCAGAAGTCACACCA	0.413													5	44	---	---	---	---	0	0
FRMD7	90167	broad.mit.edu	37	X	131212858	131212858	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chrX:131212858G>T	ENST00000298542.4	-	12	1362	c.1187C>A	c.(1186-1188)tCc>tAc	p.S396Y	FRMD7_ENST00000464296.1_Missense_Mutation_p.S381Y|FRMD7_ENST00000370879.1_Missense_Mutation_p.S276Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	396					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTCTGGTTTGGAatgctccag	0.478													40	100	---	---	---	---	0	0
CA6	765	broad.mit.edu	37	1	9031007	9031007	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:9031007C>T	ENST00000377443.2	+	7	815	c.811C>T	c.(811-813)Cac>Tac	p.H271Y	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.H211Y|CA6_ENST00000377436.3_Missense_Mutation_p.H271Y	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	271					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCTGAACCACAGAGTGGT	0.532													16	84	---	---	---	---	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368503	145368503	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:145368503G>C	ENST00000342960.5	+	84	10516	c.10481G>C	c.(10480-10482)tGt>tCt	p.C3494S	NBPF10_ENST00000369338.1_Missense_Mutation_p.C610S|NBPF10_ENST00000369339.3_Missense_Mutation_p.C612S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3494										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGGATAGATGTTATTCGACT	0.463													10	703	---	---	---	---	0	0
SMCP	4184	broad.mit.edu	37	1	152857072	152857072	+	Silent	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:152857072C>T	ENST00000368765.3	+	2	324	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	58	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAATCACTGCTGCCAGCCAA	0.537													18	214	---	---	---	---	0	0
INTS3	65123	broad.mit.edu	37	1	153732836	153732836	+	Silent	SNP	C	C	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:153732836C>A	ENST00000456435.1	+	12	1855	c.669C>A	c.(667-669)atC>atA	p.I223I	INTS3_ENST00000318967.2_Silent_p.I429I|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.I429I|INTS3_ENST00000512605.1_Silent_p.I223I			Q68E01	INT3_HUMAN	integrator complex subunit 3	430					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACCCAGCCATCACTGCCACAC	0.522													5	58	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158605702	158605702	+	Splice_Site	SNP	C	C	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:158605702C>A	ENST00000368147.4	-	38	5613		c.e38+1			NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCCACTCACCGGGCCTTGG	0.537													5	124	---	---	---	---	0	0
ZNF281	23528	broad.mit.edu	37	1	200376763	200376763	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:200376763G>C	ENST00000294740.3	-	2	2195	c.2071C>G	c.(2071-2073)Caa>Gaa	p.Q691E	ZNF281_ENST00000367353.1_Missense_Mutation_p.Q691E|ZNF281_ENST00000367352.3_Missense_Mutation_p.Q655E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGACAAATTGGAAACCGTGT	0.388													6	169	---	---	---	---	0	0
ZNF281	23528	broad.mit.edu	37	1	200376772	200376772	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:200376772G>C	ENST00000294740.3	-	2	2186	c.2062C>G	c.(2062-2064)Cac>Gac	p.H688D	ZNF281_ENST00000367353.1_Missense_Mutation_p.H688D|ZNF281_ENST00000367352.3_Missense_Mutation_p.H652D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGGAAACCGTGTCCAAGAGTA	0.393													7	177	---	---	---	---	0	0
CSRP1	1465	broad.mit.edu	37	1	201453913	201453913	+	Silent	SNP	A	A	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:201453913A>G	ENST00000367306.1	-	7	873	c.510T>C	c.(508-510)tgT>tgC	p.C170C	CSRP1_ENST00000532460.1_Silent_p.C170C|CSRP1_ENST00000526723.1_Silent_p.C137C|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000533432.1_Silent_p.C170C|CSRP1_ENST00000340006.2_Silent_p.C170C			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	170	LIM zinc-binding 2.					nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						TTTTAGCATAACATCCTGCAG	0.592													6	28	---	---	---	---	0	0
SPTBN1	0	broad.mit.edu	37	2	54895540	54895540	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:54895540A>G	ENST00000356805.4	+	36	7210	c.6929A>G	c.(6928-6930)aAa>aGa	p.K2310R		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2310					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCCTCTGATAAACACGAGGTG	0.592													27	66	---	---	---	---	0	0
MTIF2	4528	broad.mit.edu	37	2	55489556	55489556	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:55489556C>T	ENST00000394600.3	-	6	963	c.227G>A	c.(226-228)gGa>gAa	p.G76E	MTIF2_ENST00000263629.4_Missense_Mutation_p.G76E|MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000403721.1_Missense_Mutation_p.G76E	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	76					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTTCCATGGTCCTTCTTCCTA	0.318													5	103	---	---	---	---	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039186	242039186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:242039186C>A	ENST00000391980.2	-	2	203	c.145G>T	c.(145-147)Gga>Tga	p.G49*	MTERFD2_ENST00000407095.3_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	49										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ATGACCCCTCCATTGGAGGCT	0.512													9	94	---	---	---	---	0	0
CAV3	859	broad.mit.edu	37	3	8787407	8787407	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:8787407G>C	ENST00000343849.2	+	2	387	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	CAV3_ENST00000397368.2_Missense_Mutation_p.V104L|CAV3_ENST00000472766.1_Intron	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	104	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CTGGGCGGTGGTGCCATGCAT	0.607													7	54	---	---	---	---	0	0
NKTR	4820	broad.mit.edu	37	3	42684054	42684054	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:42684054C>T	ENST00000232978.8	+	14	4296	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1370					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AACCAGAAGCCGGAGCAGTTC	0.438													5	84	---	---	---	---	0	0
SPICE1	152185	broad.mit.edu	37	3	113172713	113172713	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:113172713T>C	ENST00000295872.4	-	14	2001	c.1742A>G	c.(1741-1743)gAg>gGg	p.E581G		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	581					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TAAGGTCTTCTCTTCCCAATT	0.403													4	92	---	---	---	---	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134256	119134256	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:119134256G>C	ENST00000264245.4	+	12	4012	c.3480G>C	c.(3478-3480)caG>caC	p.Q1160H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1160					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTTACTCCCAGGACCCCCAGG	0.532													30	40	---	---	---	---	0	0
CLCN3	0	broad.mit.edu	37	4	170625290	170625290	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr4:170625290A>T	ENST00000513761.1	+	10	2264	c.1705A>T	c.(1705-1707)Att>Ttt	p.I569F	CLCN3_ENST00000504131.2_Missense_Mutation_p.I552F|CLCN3_ENST00000360642.3_Missense_Mutation_p.I542F|CLCN3_ENST00000347613.4_Missense_Mutation_p.I569F	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	569					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GGCTGATTGCATTACACCTGG	0.517													4	52	---	---	---	---	0	0
ANKRD55	79722	broad.mit.edu	37	5	55422829	55422829	+	Silent	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:55422829C>T	ENST00000341048.4	-	8	868	c.717G>A	c.(715-717)gcG>gcA	p.A239A	ANKRD55_ENST00000505970.2_Intron|ANKRD55_ENST00000504958.2_Silent_p.A196A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	238										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGCCCGCTGCCGCTGCGATAT	0.493													4	135	---	---	---	---	0	0
PCDHGA9	0	broad.mit.edu	37	5	140784549	140784549	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140784549G>T	ENST00000573521.1	+	1	2030	c.2030G>T	c.(2029-2031)aGt>aTt	p.S677I	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTGGGCAGTCTTCAGATC	0.592													21	127	---	---	---	---	0	0
SLC26A2	1836	broad.mit.edu	37	5	149359955	149359955	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:149359955T>A	ENST00000286298.4	+	3	1067	c.799T>A	c.(799-801)Tct>Act	p.S267T		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	267						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TATTCTTACATCTCAGGCCAA	0.473													6	141	---	---	---	---	0	0
SPDL1	54908	broad.mit.edu	37	5	169015536	169015536	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:169015536A>T	ENST00000265295.4	+	2	395	c.116A>T	c.(115-117)aAt>aTt	p.N39I	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GAATTACAGAATCAATTGGAT	0.408													16	45	---	---	---	---	0	0
MOG	4340	broad.mit.edu	37	6	29627139	29627139	+	Silent	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:29627139G>C	ENST00000376894.4	+	2	250	c.132G>C	c.(130-132)ctG>ctC	p.L44L	MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Silent_p.L44L|MOG_ENST00000533330.2_Silent_p.L44L|MOG_ENST00000376917.3_Silent_p.L44L|MOG_ENST00000396704.3_Silent_p.L44L|MOG_ENST00000376902.3_Silent_p.L44L|MOG_ENST00000431798.2_Silent_p.L44L|MOG_ENST00000416766.2_Silent_p.L44L|MOG_ENST00000494692.1_Silent_p.L44L|MOG_ENST00000376898.3_Silent_p.L44L|MOG_ENST00000396701.2_Silent_p.L44L|MOG_ENST00000490427.1_Intron|MOG_ENST00000483013.1_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	44	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCCGGGCTCTGGTCGGGGATG	0.552													63	208	---	---	---	---	0	0
UPP1	7378	broad.mit.edu	37	7	48146608	48146608	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr7:48146608T>C	ENST00000331803.4	+	8	1198	c.575T>C	c.(574-576)cTg>cCg	p.L192P	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.L192P|UPP1_ENST00000395564.4_Missense_Mutation_p.L192P|UPP1_ENST00000429491.2_Missense_Mutation_p.L55P			Q16831	UPP1_HUMAN	uridine phosphorylase 1	192					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						GAGCTGTTGCTGTGTTCTGCA	0.542													22	81	---	---	---	---	0	0
CDCA2	157313	broad.mit.edu	37	8	25341516	25341516	+	Silent	SNP	A	A	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:25341516A>C	ENST00000330560.3	+	10	1632	c.1155A>C	c.(1153-1155)ctA>ctC	p.L385L	CDCA2_ENST00000380665.3_Silent_p.L370L|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	385					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTGCCTTTCTAAATATGAGGA	0.338													13	35	---	---	---	---	0	0
CDCA2	157313	broad.mit.edu	37	8	25341608	25341608	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:25341608A>T	ENST00000330560.3	+	10	1724	c.1247A>T	c.(1246-1248)aAa>aTa	p.K416I	CDCA2_ENST00000380665.3_Missense_Mutation_p.K401I|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	416					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CCATTGCGTAAAGGAGGAACA	0.438													23	67	---	---	---	---	0	0
ARHGEF39	84904	broad.mit.edu	37	9	35662653	35662653	+	Silent	SNP	A	A	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:35662653A>G	ENST00000378387.3	-	7	876	c.759T>C	c.(757-759)gaT>gaC	p.D253D	ARHGEF39_ENST00000378395.2_Silent_p.D217D|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000343259.3_Intron	NM_032818.2	NP_116207.2			Rho guanine nucleotide exchange factor (GEF) 39																		TGAGGAGCACATCAGTGAAGA	0.647													6	19	---	---	---	---	0	0
TLN1	7094	broad.mit.edu	37	9	35725562	35725562	+	Splice_Site	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:35725562G>A	ENST00000314888.9	-	2	483	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	TLN1_ENST00000540444.1_Splice_Site_p.P44S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	44					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGACTCACGAGGACCAGCT	0.587													49	100	---	---	---	---	0	0
MED27	9442	broad.mit.edu	37	9	134889831	134889831	+	Silent	SNP	T	T	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:134889831T>C	ENST00000292035.5	-	3	435	c.372A>G	c.(370-372)gcA>gcG	p.A124A	MED27_ENST00000357028.2_Silent_p.A124A	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	124					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		AAAGGCCAGATGCTAGTCCTG	0.423													6	36	---	---	---	---	0	0
FAM196A	642938	broad.mit.edu	37	10	128973613	128973613	+	Silent	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:128973613G>A	ENST00000522781.1	-	4	1602	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.I349I	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	349								p.I349I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TATGAGGCACGATTCGTTGGC	0.552													4	224	---	---	---	---	0	0
SLC22A11	55867	broad.mit.edu	37	11	64326610	64326610	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:64326610G>A	ENST00000301891.4	+	2	771	c.397G>A	c.(397-399)Gac>Aac	p.D133N	SLC22A11_ENST00000377585.3_Missense_Mutation_p.D133N|SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.D133N	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	133					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTTGCAGTGGGACCTGGTGTG	0.637													31	78	---	---	---	---	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810483	106810483	+	Silent	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:106810483C>T	ENST00000526355.2	-	4	1377	c.909G>A	c.(907-909)aaG>aaA	p.K303K	GUCY1A2_ENST00000282249.2_Silent_p.K303K|GUCY1A2_ENST00000347596.2_Silent_p.K303K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTGGAAGGTTCTTCATGATAT	0.428													9	42	---	---	---	---	0	0
CHD4	1108	broad.mit.edu	37	12	6703665	6703665	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr12:6703665G>A	ENST00000309577.6	-	15	2436	c.2273C>T	c.(2272-2274)aCt>aTt	p.T758I	CHD4_ENST00000357008.2_Missense_Mutation_p.T758I|CHD4_ENST00000544040.1_Missense_Mutation_p.T751I|CHD4_ENST00000544484.1_Missense_Mutation_p.T755I			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	758	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGTCTGTACAGTTTTCCCAAG	0.493													26	65	---	---	---	---	0	0
SNAPC1	6617	broad.mit.edu	37	14	62233593	62233593	+	Splice_Site	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr14:62233593G>T	ENST00000216294.4	+	2	232		c.e2-1		RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CTGTTTATTAGTGGCAGAATG	0.308													9	15	---	---	---	---	0	0
IGHV1-46	0	broad.mit.edu	37	14	106967145	106967145	+	RNA	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr14:106967145G>T	ENST00000390622.2	-	0	558																											TGGTGACTCTGCCCTGGAACT	0.557													54	191	---	---	---	---	0	0
MSRB1	51734	broad.mit.edu	37	16	1990838	1990838	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:1990838G>T	ENST00000361871.3	-	3	429	c.260C>A	c.(259-261)cCc>cAc	p.P87H	MSRB1_ENST00000399753.2_Silent_p.P208P|MSRB1_ENST00000564908.1_Silent_p.P133P	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN	methionine sulfoxide reductase B1	87					protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding									L-Methionine(DB00134)	CCCCGGCTTGGGGCCGTCGTT	0.577													6	78	---	---	---	---	0	0
PYCARD	29108	broad.mit.edu	37	16	31213495	31213495	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:31213495C>T	ENST00000247470.9	-	2	605	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	PYCARD_ENST00000350605.4_Intron|C16orf98_ENST00000561916.2_Intron	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	102					induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding			NS(1)|kidney(1)	2						TGAGGAGGGGCCTGGATCCCA	0.701													11	30	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:47696425A>C	ENST00000393331.3	-	7	868	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)			31	136	---	---	---	---	0	0
COX11	1353	broad.mit.edu	37	17	53040259	53040259	+	Missense_Mutation	SNP	T	T	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:53040259T>G	ENST00000299335.3	-	4	804	c.666A>C	c.(664-666)gaA>gaC	p.E222D		NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	222					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TAAGCCTTTGTTCTTCAAAAC	0.308													7	67	---	---	---	---	0	0
USP32	84669	broad.mit.edu	37	17	58300782	58300782	+	Missense_Mutation	SNP	T	T	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:58300782T>G	ENST00000300896.4	-	14	1792	c.1598A>C	c.(1597-1599)gAa>gCa	p.E533A	USP32_ENST00000592339.1_Missense_Mutation_p.E203A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	533	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTTACTGGTTCTTGAGTTAC	0.338													16	33	---	---	---	---	0	0
DSC3	1825	broad.mit.edu	37	18	28576863	28576863	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr18:28576863C>T	ENST00000434452.1	-	15	2541	c.2387G>A	c.(2386-2388)gGg>gAg	p.G796E	DSC3_ENST00000360428.4_Missense_Mutation_p.G796E	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	796					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATGATGATGCCCAGCCCCCCG	0.517													13	42	---	---	---	---	0	0
TNFSF14	0	broad.mit.edu	37	19	6670031	6670031	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:6670031G>A	ENST00000326176.9	-	2	431	c.50C>T	c.(49-51)aCc>aTc	p.T17I	TNFSF14_ENST00000245912.3_Missense_Mutation_p.T17I|TNFSF14_ENST00000599359.1_Missense_Mutation_p.T17I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	17					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TGGGATGTCGGTCTGTCCATC	0.627													6	137	---	---	---	---	0	0
FCGRT	2217	broad.mit.edu	37	19	50028719	50028719	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:50028719C>G	ENST00000221466.5	+	6	1363	c.877C>G	c.(877-879)Cca>Gca	p.P293A	FCGRT_ENST00000426395.3_Missense_Mutation_p.P293A|FCGRT_ENST00000599988.1_Missense_Mutation_p.P27A|FCGRT_ENST00000596975.1_Missense_Mutation_p.P201A	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	293	Connecting peptide.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TGCAGAATCTCCAGCCAAGTC	0.617													13	137	---	---	---	---	0	0
ZNF813	126017	broad.mit.edu	37	19	53993793	53993793	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:53993793G>C	ENST00000396403.4	+	4	435	c.307G>C	c.(307-309)Gaa>Caa	p.E103Q	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E103K(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCAGTGGCAAGAAGATGAAAG	0.403													38	108	---	---	---	---	0	0
NLRP13	126204	broad.mit.edu	37	19	56424212	56424212	+	Missense_Mutation	SNP	T	T	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:56424212T>G	ENST00000588751.1	-	5	995	c.971A>C	c.(970-972)gAg>gCg	p.E324A	NLRP13_ENST00000342929.3_Missense_Mutation_p.E324A			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	324	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCCAAGCTCTCAGAGCGTGA	0.458													17	75	---	---	---	---	0	0
ZFP28	140612	broad.mit.edu	37	19	57065054	57065054	+	Splice_Site	SNP	C	C	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:57065054C>G	ENST00000301318.3	+	8	971	c.900C>G	c.(898-900)ggC>ggG	p.G300G	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATCTTTCAGGCCAGCGATCTG	0.378													8	53	---	---	---	---	0	0
EIF2S3	1968	broad.mit.edu	37	X	24075812	24075812	+	Silent	SNP	T	T	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chrX:24075812T>C	ENST00000253039.4	+	4	577	c.324T>C	c.(322-324)agT>agC	p.S108S		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	108						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GTGGGAGCAGTACACCTGACG	0.373													4	34	---	---	---	---	0	0
NADK	65220	broad.mit.edu	37	1	1688005	1688005	+	Missense_Mutation	SNP	G	G	A	rs147892956	byFrequency	TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:1688005G>A	ENST00000344463.4	-	7	1092	c.871C>T	c.(871-873)Cct>Tct	p.P291S	NADK_ENST00000341991.3_Missense_Mutation_p.P146S|NADK_ENST00000341426.5_Missense_Mutation_p.P146S|NADK_ENST00000378625.1_Missense_Mutation_p.P291S|NADK_ENST00000342348.5_Missense_Mutation_p.P114S			O95544	NADK_HUMAN	NAD kinase	146					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCGATGGCAGGGTCTTCTAGC	0.527													3	31	---	---	---	---	0	0
PADI3	51702	broad.mit.edu	37	1	17599873	17599873	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:17599873G>C	ENST00000375460.3	+	10	1126	c.1086G>C	c.(1084-1086)aaG>aaC	p.K362N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	362					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCCGCACAAGACCCTCCCGG	0.602													8	25	---	---	---	---	0	0
SLC44A5	204962	broad.mit.edu	37	1	75805314	75805314	+	Splice_Site	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:75805314A>G	ENST00000370855.5	-	4	167	c.54T>C	c.(52-54)ggT>ggC	p.G18G	SLC44A5_ENST00000370859.3_Splice_Site_p.G18G|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	18						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCCTTGGATCACCTGCATTTA	0.323													42	156	---	---	---	---	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530543	80530543	+	Silent	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:80530543C>T	ENST00000295057.3	-	2	1058	c.402G>A	c.(400-402)cgG>cgA	p.R134R	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	134						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGGGCATGGGCCGGAAGGTGG	0.622										HNSCC(69;0.2)			40	58	---	---	---	---	0	0
ZEB2	9839	broad.mit.edu	37	2	145156431	145156431	+	Silent	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:145156431A>G	ENST00000558170.2	-	8	3507	c.2323T>C	c.(2323-2325)Ttg>Ctg	p.L775L	ZEB2_ENST00000409487.3_Silent_p.L775L|ZEB2_ENST00000303660.4_Silent_p.L775L|ZEB2_ENST00000539609.3_Silent_p.L751L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	775						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTGGTCCAATTTTTCAACT	0.403													46	154	---	---	---	---	0	0
C2orf80	389073	broad.mit.edu	37	2	209036736	209036736	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:209036736C>A	ENST00000341287.4	-	7	625	c.430G>T	c.(430-432)Gca>Tca	p.A144S	C2orf80_ENST00000451346.1_Missense_Mutation_p.A125S|C2orf80_ENST00000453017.1_Intron	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	144										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TATGCTGCTGCTTTGGGTGCT	0.463													55	154	---	---	---	---	0	0
GNAI2	2771	broad.mit.edu	37	3	50289913	50289913	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr3:50289913G>C	ENST00000313601.6	+	3	630	c.246G>C	c.(244-246)atG>atC	p.M82I	GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I|GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.M30I	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	82					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		AGTCCATCATGGCCATTGTCA	0.597													19	32	---	---	---	---	0	0
NNT	23530	broad.mit.edu	37	5	43624173	43624173	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr5:43624173G>A	ENST00000264663.5	+	6	948	c.727G>A	c.(727-729)Gca>Aca	p.A243T	NNT_ENST00000512996.2_Missense_Mutation_p.A112T|NNT_ENST00000344920.4_Missense_Mutation_p.A243T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	243					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCTTGCTTCTGCAGGCGCAGC	0.413													89	141	---	---	---	---	0	0
KIF13A	63971	broad.mit.edu	37	6	17828567	17828567	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr6:17828567T>C	ENST00000378814.5	-	14	1435	c.1436A>G	c.(1435-1437)gAt>gGt	p.D479G	KIF13A_ENST00000378826.2_Missense_Mutation_p.D479G|KIF13A_ENST00000259711.6_Missense_Mutation_p.D479G|KIF13A_ENST00000378816.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378843.2_Missense_Mutation_p.D479G	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	479	FHA.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAGCTGGATATCTTGAGAGGT	0.403													10	9	---	---	---	---	0	0
AP5Z1	9907	broad.mit.edu	37	7	4824568	4824568	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:4824568C>G	ENST00000348624.4	+	7	914	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V	AP5Z1_ENST00000401897.1_Missense_Mutation_p.L274V	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	274					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										GGGCTCCACTCTGTCGGTGAT	0.677													5	13	---	---	---	---	0	0
ZNF716	441234	broad.mit.edu	37	7	57528490	57528490	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:57528490A>T	ENST00000420713.1	+	4	435	c.323A>T	c.(322-324)cAa>cTa	p.Q108L		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GATTCACTCCAAAAAGTGATA	0.383													8	28	---	---	---	---	0	0
NUP205	23165	broad.mit.edu	37	7	135282771	135282771	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:135282771G>A	ENST00000285968.6	+	15	2116	c.2090G>A	c.(2089-2091)cGg>cAg	p.R697Q	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	697					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATAGAATCCCGGTGTGAAGAA	0.403													38	159	---	---	---	---	0	0
STAU2	27067	broad.mit.edu	37	8	74601015	74601015	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr8:74601015T>C	ENST00000355780.5	-	4	270	c.52A>G	c.(52-54)Aca>Gca	p.T18A	STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|STAU2_ENST00000522695.1_Missense_Mutation_p.T18A|STAU2_ENST00000521419.1_Missense_Mutation_p.T12A|STAU2_ENST00000521451.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	50	DRBM 1.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GATTCCCATGTCTGCTCACCA	0.418													52	174	---	---	---	---	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134488066	134488066	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr8:134488066G>A	ENST00000319914.5	-	4	1229	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	68					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAGAGCTTGCGCTGCCCGATG	0.612													18	85	---	---	---	---	0	0
FAM196A	642938	broad.mit.edu	37	10	128973673	128973673	+	Silent	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr10:128973673C>T	ENST00000522781.1	-	4	1542	c.987G>A	c.(985-987)ccG>ccA	p.P329P	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P329P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	329										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCCCAGCCCCGGCGGGGTGT	0.632													55	67	---	---	---	---	0	0
CERS5	91012	broad.mit.edu	37	12	50536935	50536935	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr12:50536935A>G	ENST00000317551.6	-	3	480	c.356T>C	c.(355-357)gTc>gCc	p.V119A	CERS5_ENST00000422340.2_Missense_Mutation_p.V61A	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	119					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GATTTTTCGGACATTCCAATC	0.493													83	136	---	---	---	---	0	0
MYCBP2	23077	broad.mit.edu	37	13	77853046	77853046	+	Splice_Site	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:77853046T>C	ENST00000407578.2	-	4	861	c.595A>G	c.(595-597)Att>Gtt	p.I199V	MYCBP2_ENST00000357337.6_Splice_Site_p.I161V|MYCBP2_ENST00000544440.2_Splice_Site_p.I161V|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTCAATAATCTATTTAAAA	0.358													10	25	---	---	---	---	0	0
NOP9	161424	broad.mit.edu	37	14	24769365	24769365	+	Silent	SNP	C	C	T			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr14:24769365C>T	ENST00000267425.3	+	1	298	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	NOP9_ENST00000396802.3_Silent_p.L69L	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		CCGCCGGGCGCTGTCAGCATT	0.617													42	87	---	---	---	---	0	0
ACACA	31	broad.mit.edu	37	17	35479506	35479506	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:35479506T>C	ENST00000353139.5	-	49	6566	c.6085A>G	c.(6085-6087)Aca>Gca	p.T2029A	ACACA_ENST00000394406.2_Missense_Mutation_p.T1992A|ACACA_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1992	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGTTCTACTGTTCGGGTTTCT	0.463													20	73	---	---	---	---	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66519943	66519943	+	Silent	SNP	T	T	C	rs3730371		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:66519943T>C	ENST00000589228.1	+	4	554	c.426T>C	c.(424-426)gaT>gaC	p.D142D	PRKAR1A_ENST00000588188.2_Silent_p.D142D|PRKAR1A_ENST00000536854.2_Silent_p.D142D|PRKAR1A_ENST00000358598.2_Silent_p.D142D|PRKAR1A_ENST00000586397.1_Silent_p.D142D|PRKAR1A_ENST00000392711.1_Silent_p.D142D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	142					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CACATCTTGATGATAATGAGA	0.368			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				12	21	---	---	---	---	0	0
ZNF236	7776	broad.mit.edu	37	18	74620423	74620423	+	Silent	SNP	A	A	G			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr18:74620423A>G	ENST00000253159.8	+	14	2637	c.2439A>G	c.(2437-2439)gcA>gcG	p.A813A	ZNF236_ENST00000320610.9_Silent_p.A815A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	813					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGGTGGTCGCAGCGAACCCCG	0.632													40	39	---	---	---	---	0	0
PSG7	5676	broad.mit.edu	37	19	43439764	43439764	+	RNA	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:43439764G>A	ENST00000446844.3	-	0	311				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGGTAGAGGTCCCTGATTT	0.423													48	152	---	---	---	---	0	0
CACNG7	59284	broad.mit.edu	37	19	54444869	54444869	+	Splice_Site	SNP	G	G	A			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:54444869G>A	ENST00000391767.1	+	5	782	c.570G>A	c.(568-570)gaG>gaA	p.E190E	CACNG7_ENST00000391766.1_Silent_p.E190E|CACNG7_ENST00000222212.2_Splice_Site_p.E190E			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	190					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TACTCAAAGAGGTGACGTCCG	0.552													4	77	---	---	---	---	0	0
NR1I3	0	broad.mit.edu	37	1	161206260	161206260	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr1:161206260C>G	ENST00000367983.4	-	2	390	c.96G>C	c.(94-96)aaG>aaC	p.K32N	NR1I3_ENST00000367980.2_Missense_Mutation_p.K32N|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.K32N|NR1I3_ENST00000511944.1_Missense_Mutation_p.K32N|NR1I3_ENST00000367982.4_Missense_Mutation_p.K32N|NR1I3_ENST00000442691.2_Missense_Mutation_p.K32N|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.K32N|NR1I3_ENST00000428574.2_Missense_Mutation_p.K32N|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000502985.1_Missense_Mutation_p.K32N|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367985.3_Missense_Mutation_p.K32N|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000505005.1_Missense_Mutation_p.K32N|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000515452.1_Missense_Mutation_p.K32N			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	32					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGAAGAAACCCTTGCAGCCCT	0.537													40	53	---	---	---	---	0	0
SPEG	10290	broad.mit.edu	37	2	220329189	220329189	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr2:220329189C>T	ENST00000312358.7	+	9	2872	c.2740C>T	c.(2740-2742)Cgg>Tgg	p.R914W	SPEG_ENST00000396695.2_Missense_Mutation_p.R122W|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396688.1_Missense_Mutation_p.R65W|SPEG_ENST00000396686.1_Missense_Mutation_p.R65W|SPEG_ENST00000396689.2_Missense_Mutation_p.R65W|SPEG_ENST00000396698.1_Missense_Mutation_p.R810W	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	914	Ig-like 3.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCAGACCAGCGGCGCTTTGC	0.652													30	73	---	---	---	---	0	0
SGOL1	151648	broad.mit.edu	37	3	20215804	20215804	+	Silent	SNP	T	T	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:20215804T>G	ENST00000412997.1	-	6	1570	c.1219A>C	c.(1219-1221)Aga>Cga	p.R407R	SGOL1_ENST00000412868.1_Silent_p.R407R|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000421451.1_Silent_p.R407R|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000263753.4_Silent_p.R407R|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000417364.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	407					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTCAGTGCTCTTTTAGCTAGA	0.413													7	94	---	---	---	---	0	0
RANBP17	64901	broad.mit.edu	37	5	170640699	170640699	+	Missense_Mutation	SNP	A	A	G	rs148262159		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr5:170640699A>G	ENST00000523189.1	+	21	2460	c.2296A>G	c.(2296-2298)Aca>Gca	p.T766A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	766					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCAACATGTACAACTCCCAT	0.418			T	TRD@	ALL								47	63	---	---	---	---	0	0
MUC21	394263	broad.mit.edu	37	6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612													5	338	---	---	---	---	0	0
PAQR8	85315	broad.mit.edu	37	6	52268580	52268580	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268580C>G	ENST00000442253.2	+	2	743	c.569C>G	c.(568-570)tCt>tGt	p.S190C	PAQR8_ENST00000360726.3_Missense_Mutation_p.S190C	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	190					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGCTGGTTATCTTGTGCTGGC	0.512													4	86	---	---	---	---	0	0
PAQR8	85315	broad.mit.edu	37	6	52268632	52268632	+	Silent	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268632C>T	ENST00000442253.2	+	2	795	c.621C>T	c.(619-621)gtC>gtT	p.V207V	PAQR8_ENST00000360726.3_Silent_p.V207V	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	207					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.V207V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CTTATCCAGTCATGAGGAAGA	0.547													5	83	---	---	---	---	0	0
PAQR8	85315	broad.mit.edu	37	6	52268717	52268717	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268717C>T	ENST00000442253.2	+	2	880	c.706C>T	c.(706-708)Cac>Tac	p.H236Y	PAQR8_ENST00000360726.3_Missense_Mutation_p.H236Y	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	236					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGCGCTCTGTCACCTGGCTGG	0.567													5	63	---	---	---	---	0	0
TSGA13	114960	broad.mit.edu	37	7	130357704	130357704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:130357704G>A	ENST00000456951.1	-	7	1251	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	TSGA13_ENST00000356588.3_Nonsense_Mutation_p.Q134*			Q96PP4	TSG13_HUMAN	testis specific, 13	134										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GGTTTGTGCTGATGATGACTT	0.463													4	37	---	---	---	---	0	0
BARHL1	56751	broad.mit.edu	37	9	135458234	135458234	+	Missense_Mutation	SNP	C	C	T	rs141976331	byFrequency	TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:135458234C>T	ENST00000263610.2	+	1	663	c.50C>T	c.(49-51)gCg>gTg	p.A17V	BARHL1_ENST00000542090.1_Missense_Mutation_p.A17V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	17						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TCCCACCGCGCGGGCAGCCCC	0.662													4	107	---	---	---	---	0	0
AGAP11	119385	broad.mit.edu	37	10	88768854	88768854	+	RNA	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr10:88768854G>A	ENST00000444431.1	+	0	3454				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TCCGTCACTGGCCAAACGTGC	0.507													5	194	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92577146	92577146	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:92577146G>A	ENST00000298047.6	+	18	10630	c.10613G>A	c.(10612-10614)cGc>cAc	p.R3538H	FAT3_ENST00000409404.2_Missense_Mutation_p.R3538H|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3538	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTTACATCCGCGTGCGAGTC	0.468										TCGA Ovarian(4;0.039)			10	237	---	---	---	---	0	0
SRGAP1	57522	broad.mit.edu	37	12	64491035	64491035	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:64491035G>A	ENST00000355086.3	+	15	2217	c.1693G>A	c.(1693-1695)Gct>Act	p.A565T	SRGAP1_ENST00000357825.3_Missense_Mutation_p.A542T|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A502T	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	565	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAATCCTTTGGCTGATGACCA	0.353													6	38	---	---	---	---	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919341	130919341	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:130919341C>A	ENST00000261655.4	-	11	2303	c.2140G>T	c.(2140-2142)Gac>Tac	p.D714Y	RIMBP2_ENST00000535703.1_Missense_Mutation_p.D622Y|RIMBP2_ENST00000536002.1_Missense_Mutation_p.D622Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	714						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTCTTGAAGTCTGGAGAGTCA	0.597													7	159	---	---	---	---	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701637	103701637	+	Splice_Site	SNP	A	A	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr13:103701637A>G	ENST00000245312.3	-	5	1516		c.e5+1			NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2						bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGATTCCTTACATCCTAAGA	0.423													4	96	---	---	---	---	0	0
HERC2	8924	broad.mit.edu	37	15	28359926	28359926	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:28359926C>T	ENST00000261609.7	-	90	13853	c.13745G>A	c.(13744-13746)gGa>gAa	p.G4582E		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4582	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTACATGAGTCCAGGAATAAA	0.502													13	61	---	---	---	---	0	0
FMN1	342184	broad.mit.edu	37	15	33261413	33261413	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:33261413G>T	ENST00000334528.9	-	4	1819	c.1820C>A	c.(1819-1821)cCc>cAc	p.P607H	FMN1_ENST00000561249.1_Missense_Mutation_p.P732H|FMN1_ENST00000559047.1_Missense_Mutation_p.P830H	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	830	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAGCTTTTTGGGTACTAATTG	0.468													99	133	---	---	---	---	0	0
BUB1B	701	broad.mit.edu	37	15	40501921	40501921	+	Silent	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:40501921G>A	ENST00000287598.6	+	17	2424	c.2229G>A	c.(2227-2229)ttG>ttA	p.L743L	BUB1B_ENST00000412359.3_Silent_p.L757L	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	743					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CTGCAGAGTTGTGTATAGAAG	0.448			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				39	61	---	---	---	---	0	0
NXN	64359	broad.mit.edu	37	17	722762	722762	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:722762T>C	ENST00000336868.3	-	5	828	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.Y138C|NXN_ENST00000538650.1_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	246	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTCACTGAAGTACTGTTTGAA	0.632													29	66	---	---	---	---	0	0
FKBP10	60681	broad.mit.edu	37	17	39974421	39974421	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:39974421G>T	ENST00000321562.4	+	3	576	c.472G>T	c.(472-474)Gtg>Ttg	p.V158L		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	158					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CACCGTGCAGGTGAGCACATT	0.622													27	28	---	---	---	---	0	0
FDXR	2232	broad.mit.edu	37	17	72858969	72858969	+	Silent	SNP	A	A	C			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:72858969A>C	ENST00000442102.2	-	12	1661	c.1575T>G	c.(1573-1575)ccT>ccG	p.P525P	FDXR_ENST00000582944.1_Silent_p.P474P|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000293195.5_Silent_p.P482P|FDXR_ENST00000420580.2_Silent_p.P442P|FDXR_ENST00000583917.1_Silent_p.P454P|FDXR_ENST00000544854.1_Silent_p.P430P|FDXR_ENST00000413947.2_Silent_p.P513P|FDXR_ENST00000581530.1_Silent_p.P488P	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	482					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GCATCTCCTGAGGATCCACCA	0.692													5	68	---	---	---	---	0	0
ZNF714	148206	broad.mit.edu	37	19	21299769	21299769	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:21299769A>T	ENST00000596143.1	+	5	624	c.299A>T	c.(298-300)aAa>aTa	p.K100I	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTGTACAAAAAAGGTTATGAA	0.318													13	27	---	---	---	---	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62328731	62328731	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr20:62328731T>A	ENST00000369996.1	+	2	575	c.475T>A	c.(475-477)Tca>Aca	p.S159T	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	159					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			AGGCACCTTCTCAGCCAGCAG	0.662													11	22	---	---	---	---	0	0
PIK3R3	8503	broad.mit.edu	37	1	46546396	46546396	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr1:46546396T>C	ENST00000262741.5	-	2	822	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	PIK3R3_ENST00000420542.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M91V|PIK3R3_ENST00000423209.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000354242.4_Missense_Mutation_p.M45V|PIK3R3_ENST00000372006.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000340332.6_Intron	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	45					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GCTGAAGTCATTGGCTTAGGT	0.403													7	252	---	---	---	---	0	0
VWA3B	200403	broad.mit.edu	37	2	98844684	98844684	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr2:98844684T>C	ENST00000477737.1	+	15	2243	c.2039T>C	c.(2038-2040)tTa>tCa	p.L680S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	680	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGACTCTTTTAGTTAAGGAA	0.368													29	45	---	---	---	---	0	0
ADAM29	11086	broad.mit.edu	37	4	175898876	175898876	+	Missense_Mutation	SNP	C	C	A	rs138923714	byFrequency	TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr4:175898876C>A	ENST00000359240.3	+	5	2870	c.2200C>A	c.(2200-2202)Cct>Act	p.P734T	ADAM29_ENST00000404450.4_Missense_Mutation_p.P734T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P734T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.P734T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	734					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCAGAGTCAACCTTGGGTGAT	0.493													44	50	---	---	---	---	0	0
CEP120	153241	broad.mit.edu	37	5	122682431	122682431	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr5:122682431G>C	ENST00000306467.5	-	20	3047	c.2743C>G	c.(2743-2745)Caa>Gaa	p.Q915E	CEP120_ENST00000328236.5_Missense_Mutation_p.Q915E|CEP120_ENST00000306481.6_Missense_Mutation_p.Q889E			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	915						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TATTGTTTTTGCTCTTGTTGC	0.393													30	44	---	---	---	---	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179043911	179043911	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr5:179043911C>T	ENST00000356731.5	-	10	2701	c.1166G>A	c.(1165-1167)gGt>gAt	p.G389D	HNRNPH1_ENST00000510411.1_Intron|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G389D|HNRNPH1_ENST00000511300.2_Intron|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G389D|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G389D			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	389	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ATAAGCACCACCGCTTGCTCC	0.353													25	101	---	---	---	---	0	0
DAAM2	23500	broad.mit.edu	37	6	39869131	39869131	+	Silent	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr6:39869131C>T	ENST00000538976.1	+	24	3044	c.2862C>T	c.(2860-2862)gaC>gaT	p.D954D	DAAM2_ENST00000398904.2_Silent_p.D955D|DAAM2_ENST00000274867.4_Silent_p.D955D	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	955	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGCAGCCAGACGAATTCTTTG	0.577													6	161	---	---	---	---	0	0
ENPP5	59084	broad.mit.edu	37	6	46129452	46129452	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr6:46129452G>A	ENST00000371383.2	-	5	1305	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	ENPP5_ENST00000230565.3_Missense_Mutation_p.H349Y			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	349						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AATATTGGATGCATATCTGCT	0.388													84	172	---	---	---	---	0	0
ANGPT2	285	broad.mit.edu	37	8	6360776	6360776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr8:6360776C>T	ENST00000325203.5	-	9	1811	c.1337G>A	c.(1336-1338)tGg>tAg	p.W446*	ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.W445*|ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.W394*|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	446	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TGCATCAAACCACCAGCCTGT	0.468													9	92	---	---	---	---	0	0
TRPS1	7227	broad.mit.edu	37	8	116632180	116632180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr8:116632180C>A	ENST00000395715.3	-	3	722	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	TRPS1_ENST00000519674.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E40*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.E36*	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	36					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGAAAATTCTTTGTTCTTT	0.448									Langer-Giedion syndrome				15	49	---	---	---	---	0	0
SLC22A9	114571	broad.mit.edu	37	11	63176239	63176239	+	Silent	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr11:63176239C>T	ENST00000279178.3	+	9	1738	c.1489C>T	c.(1489-1491)Ctg>Ttg	p.L497L	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	497					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTCTCCACCCCTGCCCTGGAT	0.507													23	41	---	---	---	---	0	0
PARP11	57097	broad.mit.edu	37	12	3923277	3923277	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr12:3923277T>A	ENST00000228820.4	-	7	770	c.626A>T	c.(625-627)gAa>gTa	p.E209V	PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000447133.3_Missense_Mutation_p.E128V|PARP11_ENST00000427057.2_Missense_Mutation_p.E128V|PARP11_ENST00000397096.2_Missense_Mutation_p.E202V	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	202	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCACAAATTCACTGCTGGT	0.368													8	55	---	---	---	---	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561297	32561297	+	Silent	SNP	A	A	G			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr14:32561297A>G	ENST00000345122.3	+	2	1737	c.1422A>G	c.(1420-1422)gtA>gtG	p.V474V	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.V474V|ARHGAP5_ENST00000539826.2_Silent_p.V474V|ARHGAP5_ENST00000432921.1_Silent_p.V474V|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	474	FF 3.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCAAAGAGGTATATGGTAGGC	0.373													3	70	---	---	---	---	0	0
KRT35	3886	broad.mit.edu	37	17	39635635	39635635	+	Silent	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr17:39635635C>T	ENST00000246639.2	-	3	717	c.585G>A	c.(583-585)aaG>aaA	p.K195K	KRT35_ENST00000393989.1_Silent_p.K225K			Q92764	KRT35_HUMAN	keratin 35	225	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GCAGCTCCTCCTTCAGGGACT	0.602													3	74	---	---	---	---	0	0
TTLL6	284076	broad.mit.edu	37	17	46862423	46862423	+	Silent	SNP	C	C	T			TCGA-FC-A8O0-01A-41D-A377-08	TCGA-FC-A8O0-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79086298-47f2-4553-bf73-fc0572aebf2e	c3e0e54f-67a2-4cc7-9b98-51cd1fc1c318	g.chr17:46862423C>T	ENST00000393382.3	-	13	2043	c.1902G>A	c.(1900-1902)acG>acA	p.T634T	TTLL6_ENST00000433608.2_Silent_p.T327T	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	586						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTTCGCAGACGTCAGCTTGG	0.527													4	108	---	---	---	---	0	0
TTC13	79573	broad.mit.edu	37	1	231069565	231069565	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:231069565C>A	ENST00000366661.4	-	9	950	c.943G>T	c.(943-945)Gac>Tac	p.D315Y	TTC13_ENST00000366662.4_Missense_Mutation_p.D262Y|TTC13_ENST00000414259.1_Missense_Mutation_p.D262Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	315							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAATAAAGTCAACTTTCTGC	0.353													9	98	---	---	---	---	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135870798	135870798	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:135870798T>G	ENST00000264158.8	+	6	483	c.440T>G	c.(439-441)cTt>cGt	p.L147R	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.L147R|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.L103R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	147						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGTGCAACCTTCTTCTGAGT	0.398													16	111	---	---	---	---	0	0
THSD7B	80731	broad.mit.edu	37	2	137814555	137814555	+	Silent	SNP	G	G	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:137814555G>T	ENST00000409968.1	+	3	883	c.705G>T	c.(703-705)ggG>ggT	p.G235G	THSD7B_ENST00000413152.2_Silent_p.G204G|THSD7B_ENST00000543459.1_Silent_p.G94G|THSD7B_ENST00000272643.3_Silent_p.G235G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCCTCTTGGGGAAGAGGAAT	0.463													32	254	---	---	---	---	0	0
CARF	79800	broad.mit.edu	37	2	203839140	203839140	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:203839140T>C	ENST00000402905.3	+	12	1736	c.1415T>C	c.(1414-1416)aTa>aCa	p.I472T	CARF_ENST00000414439.1_Missense_Mutation_p.I370T|CARF_ENST00000320443.8_Missense_Mutation_p.I472T|CARF_ENST00000545262.1_Missense_Mutation_p.I396T|CARF_ENST00000545253.1_Missense_Mutation_p.I384T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.I396T|CARF_ENST00000438828.2_Missense_Mutation_p.I472T	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		GTAAATGATATAAAAAATCAC	0.328													8	65	---	---	---	---	0	0
ATIC	471	broad.mit.edu	37	2	216177305	216177305	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:216177305G>A	ENST00000435675.1	+	1	492	c.101G>A	c.(100-102)gGa>gAa	p.G34E	ATIC_ENST00000540518.1_5'UTR|ATIC_ENST00000236959.9_Missense_Mutation_p.G35E			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	35					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GTCGCTTCCGGAGGGACTGCA	0.473			T	ALK	ALCL								20	84	---	---	---	---	0	0
ZBTB11	27107	broad.mit.edu	37	3	101384241	101384241	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:101384241G>C	ENST00000312938.4	-	4	1770	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCTACTGATGACAGGGCAGA	0.438													13	106	---	---	---	---	0	0
EDNRA	1909	broad.mit.edu	37	4	148407185	148407185	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr4:148407185C>T	ENST00000324300.5	+	2	867	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.L118L|EDNRA_ENST00000358556.4_Silent_p.L118L|EDNRA_ENST00000506066.1_Silent_p.L118L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	118					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CCCCAACGCGCTGATAGCCAG	0.418													15	86	---	---	---	---	0	0
WDR17	116966	broad.mit.edu	37	4	177058761	177058761	+	Splice_Site	SNP	A	A	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr4:177058761A>G	ENST00000393643.2	+	9	1610	c.1358A>G	c.(1357-1359)gAg>gGg	p.E453G	WDR17_ENST00000280190.4_Splice_Site_p.E477G|WDR17_ENST00000508596.1_Splice_Site_p.E453G|WDR17_ENST00000507824.2_Splice_Site_p.E460G	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	477										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CGATTTAATGAGGTAAGATTT	0.249													5	52	---	---	---	---	0	0
TRIO	7204	broad.mit.edu	37	5	14504503	14504503	+	Splice_Site	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:14504503G>A	ENST00000344204.4	+	55	8437	c.8413G>A	c.(8413-8415)Ggc>Agc	p.G2805S	TRIO_ENST00000344135.5_Splice_Site_p.G304S|TRIO_ENST00000537187.1_Splice_Site_p.G2629S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2805	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATTTTACAGGGGCAGATTCTC	0.502													6	85	---	---	---	---	0	0
NMUR2	56923	broad.mit.edu	37	5	151784352	151784352	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:151784352C>T	ENST00000255262.3	-	1	488	c.323G>A	c.(322-324)cGc>cAc	p.R108H	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGGGTAGTTGCGCCACATCTC	0.587													19	149	---	---	---	---	0	0
MDN1	23195	broad.mit.edu	37	6	90426386	90426386	+	Silent	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:90426386G>A	ENST00000369393.3	-	44	6841	c.6726C>T	c.(6724-6726)gaC>gaT	p.D2242D	MDN1_ENST00000428876.1_Silent_p.D2242D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2242					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTTAACATTGTCCATCAGAA	0.463													8	51	---	---	---	---	0	0
CCDC129	223075	broad.mit.edu	37	7	31617858	31617858	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr7:31617858A>G	ENST00000409210.1	+	6	888	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	CCDC129_ENST00000407970.3_Missense_Mutation_p.Y327C|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.Y353C			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	327										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTGCTACCTTATCCTCCTCAT	0.512													9	75	---	---	---	---	0	0
CCAR2	57805	broad.mit.edu	37	8	22472959	22472959	+	Silent	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr8:22472959G>A	ENST00000308511.4	+	12	1476	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	CCAR2_ENST00000389279.3_Silent_p.Q409Q|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Silent_p.Q84Q					cell cycle and apoptosis regulator 2	409																	CCGAGTTTCAGTACCTGCAGC	0.582													30	132	---	---	---	---	0	0
CHD7	55636	broad.mit.edu	37	8	61736563	61736563	+	Missense_Mutation	SNP	G	G	T	rs41272440		TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr8:61736563G>T	ENST00000423902.2	+	13	3845	c.3366G>T	c.(3364-3366)aaG>aaT	p.K1122N	CHD7_ENST00000525508.1_Missense_Mutation_p.K1122N|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1122	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGGGACTCAAGATGATGGACT	0.468													6	129	---	---	---	---	0	0
CHD7	55636	broad.mit.edu	37	8	61736570	61736570	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr8:61736570G>T	ENST00000423902.2	+	13	3852	c.3373G>T	c.(3373-3375)Gac>Tac	p.D1125Y	CHD7_ENST00000525508.1_Missense_Mutation_p.D1125Y|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1125	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAAGATGATGGACTTGGTCAG	0.463													6	120	---	---	---	---	0	0
CHD7	55636	broad.mit.edu	37	8	61736614	61736614	+	Nonstop_Mutation	SNP	G	G	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr8:61736614G>C	ENST00000525508.1	+	12	3417	c.3417G>C	c.(3415-3417)taG>taC	p.*1139Y	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000423902.2_Intron			Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	0	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AACCTGAATAGAATTGTTGCT	0.423													6	81	---	---	---	---	0	0
PIPSL	0	broad.mit.edu	37	10	95719791	95719791	+	RNA	SNP	C	C	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr10:95719791C>A	ENST00000480546.1	-	0	1506					NR_002319.2																						TCAGGACAACCAAGGTGAACA	0.507													6	24	---	---	---	---	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048747	102048747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr10:102048747G>A	ENST00000318222.3	-	15	2699	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*	PKD2L1_ENST00000353274.3_Intron|PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q698*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	773					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGCCCACCCTGGACTCCCCAG	0.602													15	90	---	---	---	---	0	0
ERN2	10595	broad.mit.edu	37	16	23716455	23716455	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr16:23716455C>T	ENST00000256797.4	-	8	915	c.747G>A	c.(745-747)ctG>ctA	p.L249L	ERN2_ENST00000457008.2_Silent_p.L201L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	201					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGCAGGACGCCAGGTGGCTCA	0.637													5	50	---	---	---	---	0	0
WIPI1	55062	broad.mit.edu	37	17	66425017	66425017	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr17:66425017A>C	ENST00000262139.5	-	10	1025	c.1026T>G	c.(1024-1026)aaT>aaG	p.N342K	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.N260K	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	342					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GAGGATCCAAATTGTACATAT	0.468													4	56	---	---	---	---	0	0
CBX4	8535	broad.mit.edu	37	17	77809099	77809099	+	Silent	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr17:77809099C>T	ENST00000269397.4	-	5	519	c.342G>A	c.(340-342)aaG>aaA	p.K114K	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	114	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCCTGGCCCTTCCCCTGCG	0.657											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	127	---	---	---	---	0	0
ABHD8	79575	broad.mit.edu	37	19	17411726	17411726	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:17411726T>C	ENST00000247706.3	-	2	939	c.700A>G	c.(700-702)Atg>Gtg	p.M234V	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	234							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ATTGCTCGCATGTCCTCAGCC	0.617													13	143	---	---	---	---	0	0
SSBP4	170463	broad.mit.edu	37	19	18538569	18538569	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:18538569G>T	ENST00000270061.7	+	3	434	c.140G>T	c.(139-141)tGg>tTg	p.W47L	SSBP4_ENST00000348495.6_Missense_Mutation_p.W47L|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4		LisH.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CAGATCCGATGGGAGAAGAAC	0.662													4	57	---	---	---	---	0	0
ZNF675	171392	broad.mit.edu	37	19	23837046	23837046	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:23837046C>T	ENST00000359788.4	-	4	857	c.689G>A	c.(688-690)tGt>tAt	p.C230Y	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	230					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTCTTGACATTTGTAGAG	0.308													12	37	---	---	---	---	0	0
RTEL1	51750	broad.mit.edu	37	20	62320908	62320908	+	Silent	SNP	G	G	T			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr20:62320908G>T	ENST00000318100.4	+	23	2759	c.1932G>T	c.(1930-1932)acG>acT	p.T644T	RTEL1_ENST00000370018.3_Silent_p.T644T|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T644T|RTEL1_ENST00000360203.5_Silent_p.T644T|RTEL1_ENST00000508582.2_Silent_p.T668T	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	644					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGATTGTCACGGGCCTCCCGT	0.662													3	49	---	---	---	---	0	0
NUP50	10762	broad.mit.edu	37	22	45574602	45574602	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr22:45574602A>G	ENST00000347635.4	+	5	1290	c.824A>G	c.(823-825)aAg>aGg	p.K275R	NUP50_ENST00000396096.2_Missense_Mutation_p.K247R|NUP50_ENST00000407019.2_Missense_Mutation_p.K247R|NUP50_ENST00000425733.2_Missense_Mutation_p.K25R	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa		5 X 2 AA repeats of F-G.|Ser-rich.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AATTTCGGCAAGAAAGTTGAT	0.438													3	20	---	---	---	---	0	0
KIF1B	23095	broad.mit.edu	37	1	10342413	10342413	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:10342413A>G	ENST00000377086.1	+	15	1458	c.1256A>G	c.(1255-1257)tAc>tGc	p.Y419C	KIF1B_ENST00000377083.1_Intron|KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Missense_Mutation_p.Y419C			O60333	KIF1B_HUMAN	kinesin family member 1B	419					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCATAGATACTTGCTAGCC	0.453													13	37	---	---	---	---	0	0
JUN	3725	broad.mit.edu	37	1	59248569	59248569	+	Silent	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:59248569C>A	ENST00000371222.2	-	1	1216	c.174G>T	c.(172-174)tcG>tcT	p.S58S		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	58					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	TGAGGAGGTCCGAGTTCTTGG	0.632			A		sarcoma								12	183	---	---	---	---	0	0
USP33	23032	broad.mit.edu	37	1	78195548	78195548	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:78195548C>A	ENST00000370793.1	-	10	1153	c.807G>T	c.(805-807)caG>caT	p.Q269H	USP33_ENST00000370792.3_Missense_Mutation_p.Q269H|USP33_ENST00000370794.3_Missense_Mutation_p.Q238H|USP33_ENST00000357428.1_Missense_Mutation_p.Q269H	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	269					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AACTAACCTGCTGAGAATACC	0.333													4	90	---	---	---	---	0	0
KIRREL	55243	broad.mit.edu	37	1	158064794	158064794	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:158064794C>A	ENST00000368172.1	+	11	1612	c.1600C>A	c.(1600-1602)Cca>Aca	p.P534T	KIRREL_ENST00000368173.3_Missense_Mutation_p.P736T|KIRREL_ENST00000392272.2_Missense_Mutation_p.P617T|KIRREL_ENST00000359209.6_Missense_Mutation_p.P720T|KIRREL_ENST00000360089.4_Missense_Mutation_p.P556T|KIRREL_ENST00000416935.2_Missense_Mutation_p.P620T			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	720						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGAGCGGACCCCATATGAGGC	0.622													4	41	---	---	---	---	0	0
KLHL20	27252	broad.mit.edu	37	1	173744960	173744960	+	Silent	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:173744960C>A	ENST00000209884.4	+	10	1753	c.1617C>A	c.(1615-1617)gcC>gcA	p.A539A	KLHL20_ENST00000546011.1_Silent_p.A350A	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	539					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAGTGGTGGCCATGACATCAC	0.473													4	87	---	---	---	---	0	0
KIF21B	23046	broad.mit.edu	37	1	200972744	200972744	+	Silent	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:200972744C>T	ENST00000332129.2	-	8	1498	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	KIF21B_ENST00000422435.2_Silent_p.R394R|KIF21B_ENST00000360529.5_Silent_p.R394R|KIF21B_ENST00000461742.2_Silent_p.R394R	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	394					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R394R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCATCTGCAGCCGAGCAATCT	0.562													18	69	---	---	---	---	0	0
C1orf95	375057	broad.mit.edu	37	1	226784502	226784502	+	Splice_Site	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:226784502G>T	ENST00000366788.3	+	2	307		c.e2-1		C1orf95_ENST00000366789.4_Splice_Site	NM_001003665.3	NP_001003665.1	Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95							integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GCCTCTCACAGGGACATTCGT	0.632													6	129	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228433202	228433202	+	Silent	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:228433202G>C	ENST00000570156.2	+	13	3920	c.3846G>C	c.(3844-3846)gtG>gtC	p.V1282V	OBSCN_ENST00000284548.11_Silent_p.V1190V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.V1190V|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	261	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGTGAGGTGGCCCAGCCCC	0.607													11	71	---	---	---	---	0	0
RYR2	6262	broad.mit.edu	37	1	237711848	237711848	+	Silent	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:237711848G>A	ENST00000366574.2	+	26	3341	c.3024G>A	c.(3022-3024)gcG>gcA	p.A1008A	RYR2_ENST00000360064.6_Silent_p.A1006A|RYR2_ENST00000542537.1_Silent_p.A992A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1008	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGTGTGGGCGCGGGATCGAA	0.473													12	41	---	---	---	---	0	0
APOB	338	broad.mit.edu	37	2	21231069	21231069	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:21231069G>T	ENST00000233242.1	-	26	8798	c.8671C>A	c.(8671-8673)Cac>Aac	p.H2891N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2891					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCAATTTGTGGAAGTATTTA	0.428													5	209	---	---	---	---	0	0
SRD5A2	6716	broad.mit.edu	37	2	31806024	31806024	+	RNA	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:31806024C>A	ENST00000405650.1	-	0	112							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCGCGGCCCCCGCAACCCCTT	0.726													3	23	---	---	---	---	0	0
VPS54	51542	broad.mit.edu	37	2	64208816	64208816	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:64208816C>A	ENST00000409558.4	-	3	460	c.306G>T	c.(304-306)aaG>aaT	p.K102N	VPS54_ENST00000272322.4_Missense_Mutation_p.K114N	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TAAAATGTTCCTTGCTGATCT	0.358													5	92	---	---	---	---	0	0
GPR155	151556	broad.mit.edu	37	2	175301023	175301023	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:175301023C>A	ENST00000392552.2	-	16	2672	c.2434G>T	c.(2434-2436)Ggg>Tgg	p.G812W	GPR155_ENST00000295500.4_Missense_Mutation_p.G812W|GPR155_ENST00000392551.2_Missense_Mutation_p.G812W	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	812	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATGACTCCCCCTTGTACCAGC	0.483													5	190	---	---	---	---	0	0
INPP5D	3635	broad.mit.edu	37	2	233925310	233925310	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:233925310C>T	ENST00000359570.5	+	1	122	c.122C>T	c.(121-123)gCg>gTg	p.A41V	INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	41	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGGGCATACGCGCTCTGCGTG	0.612													12	51	---	---	---	---	0	0
MME	4311	broad.mit.edu	37	3	154861330	154861330	+	Silent	SNP	A	A	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr3:154861330A>G	ENST00000460393.1	+	13	1407	c.1287A>G	c.(1285-1287)gaA>gaG	p.E429E	MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E|MME_ENST00000493237.1_Silent_p.E429E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	429					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTATGTGGAAGCAGCATTTG	0.413													20	91	---	---	---	---	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68784775	68784775	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr4:68784775G>T	ENST00000508048.1	-	8	900	c.865C>A	c.(865-867)Cag>Aag	p.Q289K	TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.Q293K|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.Q290K			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	293	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						AAACAAATCTGGCGTATGTCA	0.458													4	122	---	---	---	---	0	0
CCSER1	401145	broad.mit.edu	37	4	91229733	91229733	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr4:91229733A>C	ENST00000509176.1	+	2	586	c.298A>C	c.(298-300)Atg>Ctg	p.M100L	CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L|CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		TCACAGCAATATGCAGAAACT	0.408													5	85	---	---	---	---	0	0
ADCY2	108	broad.mit.edu	37	5	7626342	7626342	+	Silent	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:7626342C>A	ENST00000338316.4	+	4	722	c.633C>A	c.(631-633)ctC>ctA	p.L211L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	211					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATAAGCACCTCATGGAACTCG	0.448													5	158	---	---	---	---	0	0
TRIO	7204	broad.mit.edu	37	5	14363859	14363859	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:14363859T>G	ENST00000344204.4	+	14	2434	c.2410T>G	c.(2410-2412)Tct>Gct	p.S804A	TRIO_ENST00000509967.2_Missense_Mutation_p.S755A|TRIO_ENST00000537187.1_Missense_Mutation_p.S804A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	804					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGACCTCGAGTCTTGGAATGA	0.438													6	85	---	---	---	---	0	0
MAST4	375449	broad.mit.edu	37	5	66458987	66458987	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:66458987C>T	ENST00000404260.3	+	29	4297	c.3989C>T	c.(3988-3990)tCc>tTc	p.S1330F	MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F|MAST4_ENST00000403625.2_Missense_Mutation_p.S1327F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1330	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACTAATTCCTCCCAGAGCAGC	0.552													12	222	---	---	---	---	0	0
PCDHA4	0	broad.mit.edu	37	5	140187047	140187047	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:140187047G>T	ENST00000530339.1	+	1	275	c.275G>T	c.(274-276)cGg>cTg	p.R92L	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R92L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R92L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGGGAGGAGCTG	0.622													6	262	---	---	---	---	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533896	156533896	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:156533896C>A	ENST00000307851.4	-	2	866	c.136G>T	c.(136-138)Ggg>Tgg	p.G46W	HAVCR2_ENST00000522593.1_Missense_Mutation_p.G46W|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	46	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGAGGTTCCCTGGGGCGGCT	0.562													5	210	---	---	---	---	0	0
PHACTR1	221692	broad.mit.edu	37	6	13228134	13228134	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr6:13228134G>A	ENST00000379350.1	+	8	1202	c.1073G>A	c.(1072-1074)gGc>gAc	p.G358D	PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	358						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGACCTATGGGCCTTCCAGAA	0.483													18	160	---	---	---	---	0	0
TRIM39-RPP21	0	broad.mit.edu	37	6	30314525	30314525	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr6:30314525C>A	ENST00000513556.1	+	10	1186	c.1186C>A	c.(1186-1188)Cac>Aac	p.H396N	RPP21_ENST00000442966.2_Missense_Mutation_p.H135N|RPP21_ENST00000433076.2_Missense_Mutation_p.H143N|RPP21_ENST00000436442.2_Missense_Mutation_p.P137Q|RPP21_ENST00000428040.2_Missense_Mutation_p.H158N	NM_001199119.1	NP_001186048.1	A6ZJ12	A6ZJ12_HUMAN		396						intracellular	zinc ion binding										AAACACAGCCCACTCCATTTC	0.438													5	204	---	---	---	---	0	0
LMTK2	22853	broad.mit.edu	37	7	97823753	97823753	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:97823753G>T	ENST00000297293.5	+	11	4269	c.3976G>T	c.(3976-3978)Gac>Tac	p.D1326Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1326					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCAACGAGGACGGAAGGCA	0.622													29	89	---	---	---	---	0	0
SLC13A4	26266	broad.mit.edu	37	7	135366383	135366383	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:135366383C>A	ENST00000354042.4	-	16	2498	c.1809G>T	c.(1807-1809)tgG>tgT	p.W603C	SLC13A4_ENST00000491630.1_5'UTR|C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	603						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGCTAACTCCCCAGGTGTTGA	0.537													4	49	---	---	---	---	0	0
OR2A2	442361	broad.mit.edu	37	7	143806792	143806792	+	Silent	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:143806792G>T	ENST00000408979.2	+	1	186	c.117G>T	c.(115-117)ctG>ctT	p.L39L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCACCCTGCTGGGGAATGGGG	0.512													5	182	---	---	---	---	0	0
ESYT2	57488	broad.mit.edu	37	7	158534551	158534551	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:158534551G>C	ENST00000251527.5	-	17	1977	c.1912C>G	c.(1912-1914)Cac>Gac	p.H638D	ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	666			S -> G (in dbSNP:rs2305473).			integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GAGTGTTGGTGGTCTGGAGGC	0.478													26	98	---	---	---	---	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68178397	68178397	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:68178397G>C	ENST00000262215.3	-	14	2356	c.1967C>G	c.(1966-1968)cCt>cGt	p.P656R	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	656					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.P656H(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TATTGTCTCAGGGTGTTTGAT	0.373													9	42	---	---	---	---	0	0
SULF1	23213	broad.mit.edu	37	8	70541903	70541903	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:70541903C>A	ENST00000260128.4	+	19	2990	c.2273C>A	c.(2272-2274)cCg>cAg	p.P758Q	SULF1_ENST00000458141.2_Missense_Mutation_p.P758Q|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.P758Q|SULF1_ENST00000419716.3_Missense_Mutation_p.P758Q	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	758					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGACAGCCCCGTTCTGGAAC	0.522													4	158	---	---	---	---	0	0
FAM135B	51059	broad.mit.edu	37	8	139180230	139180230	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:139180230G>A	ENST00000395297.1	-	12	1336	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	389										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCAGCGGGGGCATGCTAGT	0.602										HNSCC(54;0.14)			27	111	---	---	---	---	0	0
CNTLN	54875	broad.mit.edu	37	9	17273768	17273768	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr9:17273768T>C	ENST00000380647.3	+	6	971	c.887T>C	c.(886-888)gTt>gCt	p.V296A	CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A|CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	296						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGGAAAGAAGTTGAAGTATCA	0.308													14	83	---	---	---	---	0	0
GBGT1	26301	broad.mit.edu	37	9	136029061	136029061	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr9:136029061G>T	ENST00000372040.3	-	7	1258	c.947C>A	c.(946-948)cCc>cAc	p.P316H	GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.P299H|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372043.3_3'UTR	NM_001282629.1	NP_001269558.1			globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GAGGTACTCGGGGGACAGCAC	0.587													6	184	---	---	---	---	0	0
PAPSS2	9060	broad.mit.edu	37	10	89505689	89505689	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:89505689G>A	ENST00000361175.4	+	12	2176	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	603					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AGCATGGAAGGTCCTGACAGA	0.463													7	100	---	---	---	---	0	0
CYP2C9	1559	broad.mit.edu	37	10	96741067	96741067	+	Silent	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:96741067C>A	ENST00000260682.6	+	7	1101	c.1089C>A	c.(1087-1089)ccC>ccA	p.P363P		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	363					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ACCTTCTCCCCACCAGCCTGC	0.502													6	144	---	---	---	---	0	0
NT5C2	22978	broad.mit.edu	37	10	104866420	104866420	+	Silent	SNP	A	A	C	rs146517994		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:104866420A>C	ENST00000343289.5	-	4	306	c.219T>G	c.(217-219)acT>acG	p.T73T	NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000423468.2_Silent_p.T44T|NT5C2_ENST00000404739.3_Silent_p.T73T	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	73					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ATCTCTCCACAGTAAGCTCAA	0.388													5	164	---	---	---	---	0	0
FADS2	9415	broad.mit.edu	37	11	61607856	61607856	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr11:61607856G>T	ENST00000278840.4	+	3	999	c.369G>T	c.(367-369)atG>atT	p.M123I	FADS2_ENST00000257261.6_Missense_Mutation_p.M101I|FADS2_ENST00000521849.1_Missense_Mutation_p.M123I|FADS2_ENST00000522056.1_Missense_Mutation_p.M92I	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	123					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CTGAGGACATGAACCTGTTCA	0.542													5	155	---	---	---	---	0	0
P2RX2	0	broad.mit.edu	37	12	133197878	133197878	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr12:133197878C>A	ENST00000389110.3	+	9	980	c.943C>A	c.(943-945)Cgc>Agc	p.R315S	P2RX2_ENST00000352418.4_Missense_Mutation_p.R243S|P2RX2_ENST00000348800.5_Missense_Mutation_p.R315S|P2RX2_ENST00000351222.4_Missense_Mutation_p.R223S|P2RX2_ENST00000343948.4_Missense_Mutation_p.R315S|P2RX2_ENST00000350048.5_Missense_Mutation_p.R291S|P2RX2_ENST00000449132.2_Missense_Mutation_p.R281S	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	315					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CACCACCACCCGCACGCTCAT	0.612													5	207	---	---	---	---	0	0
SAV1	60485	broad.mit.edu	37	14	51132078	51132078	+	Silent	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr14:51132078C>A	ENST00000324679.4	-	2	717	c.354G>T	c.(352-354)acG>acT	p.T118T		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	118					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					AACTAACTTCCGTTACAAATG	0.403													3	19	---	---	---	---	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890498	23890498	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:23890498G>A	ENST00000532292.1	-	1	677	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGAGGCAGGCTGAAACTGG	0.582													8	89	---	---	---	---	0	0
FAM214A	56204	broad.mit.edu	37	15	52901525	52901525	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:52901525T>G	ENST00000261844.7	-	6	1738	c.1586A>C	c.(1585-1587)aAt>aCt	p.N529T	FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	529																	CTTCAACAAATTTTTGTCTTC	0.383													31	85	---	---	---	---	0	0
ACAN	176	broad.mit.edu	37	15	89400579	89400579	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:89400579G>T	ENST00000439576.2	+	12	5137	c.4763G>T	c.(4762-4764)gGg>gTg	p.G1588V	ACAN_ENST00000561243.1_Missense_Mutation_p.G1588V|ACAN_ENST00000559004.1_Missense_Mutation_p.G1588V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1588V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1588					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACCTCAGTGGGTTGCCTTCT	0.537													5	165	---	---	---	---	0	0
MCTP2	55784	broad.mit.edu	37	15	95013613	95013613	+	Silent	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:95013613G>A	ENST00000357742.4	+	20	2412	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	MCTP2_ENST00000451018.3_Silent_p.L749L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	804					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTTTGATTCTGGCAGCAGCCA	0.418													4	171	---	---	---	---	0	0
LUC7L	55692	broad.mit.edu	37	16	242931	242931	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:242931G>C	ENST00000337351.4	-	7	894	c.771C>G	c.(769-771)agC>agG	p.S257R	LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R|LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000293872.8_Missense_Mutation_p.S257R	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	257	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTCACCTCCTGCTCAGACGCT	0.552													16	229	---	---	---	---	0	0
C16orf89	146556	broad.mit.edu	37	16	5094359	5094359	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:5094359C>T	ENST00000422873.1	-	8	1277	c.1190G>A	c.(1189-1191)aGc>aAc	p.S397N	C16orf89_ENST00000315997.5_3'UTR|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|C16orf89_ENST00000350219.4_3'UTR|C16orf89_ENST00000474471.3_3'UTR|ALG1_ENST00000588623.1_Intron	NM_001098514.2	NP_001091984.2	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	0						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TCAGCGGCTGCTTGGTGGTGG	0.602													9	111	---	---	---	---	0	0
GDPD3	79153	broad.mit.edu	37	16	30122799	30122799	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:30122799C>A	ENST00000406256.3	-	7	994	c.617G>T	c.(616-618)tGg>tTg	p.W206L		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	206	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AAGCAGCACCCAGAATCCTCG	0.557													5	176	---	---	---	---	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050752	84050752	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:84050752G>T	ENST00000299709.3	-	7	945	c.946C>A	c.(946-948)Ctg>Atg	p.L316M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	316					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCTCCCCAGGAAGAGCACG	0.567													4	53	---	---	---	---	0	0
ZNF594	84622	broad.mit.edu	37	17	5085657	5085657	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:5085657G>A	ENST00000399604.4	-	1	2035	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F			Q96JF6	ZN594_HUMAN	zinc finger protein 594	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACCCCTAAAAGATTTCCCACA	0.398													11	174	---	---	---	---	0	0
JUP	3728	broad.mit.edu	37	17	39919332	39919332	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:39919332G>T	ENST00000393931.3	-	8	1518	c.1400C>A	c.(1399-1401)cCt>cAt	p.P467H	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.P467H|JUP_ENST00000310706.5_Missense_Mutation_p.P467H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	467					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTCGGCCTCAGGGTGGCGGCT	0.617													4	69	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:47696424G>T	ENST00000393331.3	-	7	869	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)			27	117	---	---	---	---	0	0
USP36	57602	broad.mit.edu	37	17	76803039	76803039	+	Splice_Site	SNP	A	A	C			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:76803039A>C	ENST00000542802.3	-	14	2529		c.e14+1		USP36_ENST00000449938.2_Splice_Site|USP36_ENST00000312010.6_Splice_Site			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCACACACCCACCTTCTTGGC	0.567													8	90	---	---	---	---	0	0
SS18	6760	broad.mit.edu	37	18	23612376	23612376	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr18:23612376T>G	ENST00000415083.2	-	10	1272	c.1217A>C	c.(1216-1218)tAt>tCt	p.Y406S	SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S|SS18_ENST00000539849.1_Missense_Mutation_p.Y324S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	406	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTCATATCCATAAGGCCTCTG	0.453			T	"""SSX1,  SSX2"""	synovial sarcoma								6	196	---	---	---	---	0	0
AQP4	361	broad.mit.edu	37	18	24436180	24436180	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr18:24436180C>A	ENST00000383168.4	-	5	1095	c.967G>T	c.(967-969)Gta>Tta	p.V323L	AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.V301L|AQP4_ENST00000440832.3_Missense_Mutation_p.V301L|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	323					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TCTAGTCATACTGAAGACAAT	0.433													4	239	---	---	---	---	0	0
ZNF845	91664	broad.mit.edu	37	19	53855875	53855875	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr19:53855875C>A	ENST00000458035.1	+	4	2064	c.1947C>A	c.(1945-1947)aaC>aaA	p.N649K	ZNF845_ENST00000595091.1_Missense_Mutation_p.N649K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAAATCAAACCTTCAAAGAC	0.398													3	36	---	---	---	---	0	0
ZFP28	140612	broad.mit.edu	37	19	57065372	57065372	+	Silent	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr19:57065372G>T	ENST00000301318.3	+	8	1289	c.1218G>T	c.(1216-1218)gtG>gtT	p.V406V	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAAGTTCAGTGGTAATAAAAC	0.318													5	126	---	---	---	---	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549488	58549488	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr19:58549488G>T	ENST00000282326.1	+	3	531	c.284G>T	c.(283-285)cGg>cTg	p.R95L	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.R95L|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.R95L	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	95	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCAAGATGCGGACCTGGGTG	0.687													5	20	---	---	---	---	0	0
COL6A1	1291	broad.mit.edu	37	21	47423618	47423618	+	Silent	SNP	C	C	T			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr21:47423618C>T	ENST00000361866.3	+	35	2892	c.2778C>T	c.(2776-2778)ttC>ttT	p.F926F	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	926	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGACCCGCTTCTACCGCGAGG	0.642													7	27	---	---	---	---	0	0
RNF215	200312	broad.mit.edu	37	22	30776081	30776081	+	Silent	SNP	C	C	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr22:30776081C>A	ENST00000382363.3	-	7	1052	c.978G>T	c.(976-978)gcG>gcT	p.A326A		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	326						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCAGGCACACCGCACAGGTCT	0.647													4	147	---	---	---	---	0	0
ACR	49	broad.mit.edu	37	22	51178322	51178322	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr22:51178322G>A	ENST00000216139.5	+	3	522	c.482G>A	c.(481-483)gGc>gAc	p.G161D	ACR_ENST00000529621.1_Missense_Mutation_p.G161D	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	161	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ATTGGGCCGGGCTGCCTGCCC	0.567													18	104	---	---	---	---	0	0
HRNR	388697	broad.mit.edu	37	1	152192307	152192307	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr1:152192307G>T	ENST00000368801.2	-	3	1873	c.1798C>A	c.(1798-1800)Cac>Aac	p.H600N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	600					keratinization		calcium ion binding|protein binding	p.H600N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGATCCGTGTTGACCGTAG	0.557													47	427	---	---	---	---	0	0
PCDHA4	0	broad.mit.edu	37	5	140187163	140187163	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr5:140187163C>A	ENST00000530339.1	+	1	391	c.391C>A	c.(391-393)Ccg>Acg	p.P131T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P131T|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P131T	NM_018907.2	NP_061730.1												p.P131T(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATAACCCGCCGGTGTTCCC	0.592													4	150	---	---	---	---	0	0
CD109	135228	broad.mit.edu	37	6	74491004	74491004	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr6:74491004C>A	ENST00000437994.2	+	17	2356	c.1925C>A	c.(1924-1926)aCa>aAa	p.T642K	CD109_ENST00000287097.5_Missense_Mutation_p.T642K|CD109_ENST00000422508.2_Missense_Mutation_p.T565K	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	642	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.T642K(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGTATTGACAGATGCAAAC	0.318													3	72	---	---	---	---	0	0
MKLN1	4289	broad.mit.edu	37	7	131172448	131172448	+	Silent	SNP	T	T	G			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr7:131172448T>G	ENST00000352689.6	+	18	2209	c.2169T>G	c.(2167-2169)acT>acG	p.T723T	MKLN1_ENST00000421797.2_Silent_p.T631T|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	723					signal transduction	cytoplasm	protein binding	p.T723T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ACAGCATGACTCCTCCTAAAG	0.433													12	56	---	---	---	---	0	0
MKLN1	4289	broad.mit.edu	37	7	131172449	131172449	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr7:131172449C>A	ENST00000352689.6	+	18	2210	c.2170C>A	c.(2170-2172)Cct>Act	p.P724T	MKLN1_ENST00000421797.2_Missense_Mutation_p.P632T|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	724					signal transduction	cytoplasm	protein binding	p.P724T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CAGCATGACTCCTCCTAAAGG	0.433													12	56	---	---	---	---	0	0
PXDNL	137902	broad.mit.edu	37	8	52320734	52320734	+	Silent	SNP	G	G	T			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr8:52320734G>T	ENST00000356297.4	-	17	3550	c.3450C>A	c.(3448-3450)atC>atA	p.I1150I	PXDNL_ENST00000543296.1_Silent_p.I1150I	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1150					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.I349I(1)|p.I1150I(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATATGGTGGGATCCCGTGGT	0.448													20	163	---	---	---	---	0	0
RASEF	158158	broad.mit.edu	37	9	85597623	85597623	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr9:85597623G>A	ENST00000376447.3	-	17	2452	c.2192C>T	c.(2191-2193)tCa>tTa	p.S731L		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	731					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	p.S731L(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CATCTGTGGTGACTTTTTGGA	0.413													22	178	---	---	---	---	0	0
KIF11	3832	broad.mit.edu	37	10	94390060	94390060	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr10:94390060A>G	ENST00000260731.3	+	12	1523	c.1433A>G	c.(1432-1434)gAa>gGa	p.E478G		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	478					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	p.E478G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGTTAAAGAAGAATATATC	0.343													7	46	---	---	---	---	0	0
COL17A1	1308	broad.mit.edu	37	10	105798253	105798253	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr10:105798253G>A	ENST00000353479.5	-	45	3271	c.2981C>T	c.(2980-2982)cCg>cTg	p.P994L	COL17A1_ENST00000369733.3_Missense_Mutation_p.P949L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	994	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P994L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCCCTGGCGGGCCTGACAC	0.597													23	165	---	---	---	---	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450382	110450382	+	Silent	SNP	C	C	T			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr11:110450382C>T	ENST00000260283.4	-	16	3572	c.3288G>A	c.(3286-3288)agG>agA	p.R1096R	ARHGAP20_ENST00000528829.1_Silent_p.R1060R|ARHGAP20_ENST00000529591.1_Silent_p.R639R|ARHGAP20_ENST00000357139.3_Silent_p.R1070R|ARHGAP20_ENST00000533353.1_Silent_p.R1070R|ARHGAP20_ENST00000527598.1_Silent_p.R1060R|ARHGAP20_ENST00000524756.1_Silent_p.R1073R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1096					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R1096R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CTTCAGCTGCCCTTAAGGGCA	0.522													4	139	---	---	---	---	0	0
ARID2	196528	broad.mit.edu	37	12	46243943	46243943	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr12:46243943A>T	ENST00000334344.6	+	15	2209	c.2037A>T	c.(2035-2037)caA>caT	p.Q679H	ARID2_ENST00000444670.1_Missense_Mutation_p.Q289H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.Q530H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q679H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTGTGGCACAAACTGTTTCAA	0.413			"""N, S, F"""		hepatocellular carcinoma								17	125	---	---	---	---	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076874	49076874	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr13:49076874C>A	ENST00000344532.3	-	11	1526	c.1103G>T	c.(1102-1104)cGc>cTc	p.R368L	RCBTB2_ENST00000430805.2_Missense_Mutation_p.R373L|RCBTB2_ENST00000544492.1_Missense_Mutation_p.R94L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	368							Ran guanyl-nucleotide exchange factor activity	p.R368L(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GGAGAGGAGGCGCCACGTGAC	0.577													15	106	---	---	---	---	0	0
RASA3	22821	broad.mit.edu	37	13	114780695	114780695	+	Silent	SNP	C	C	T			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr13:114780695C>T	ENST00000334062.7	-	14	1516	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	RASA3_ENST00000389544.4_Silent_p.K433K	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	465	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.K465K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CCTGGAAGCGCTTGGCCGCCG	0.627													5	145	---	---	---	---	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677246	37677246	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr19:37677246G>C	ENST00000532828.2	-	5	1444	c.1193C>G	c.(1192-1194)aCa>aGa	p.T398R	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.T343R|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.T398R(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGATGCACTGTGAGTGCTGA	0.413													3	91	---	---	---	---	0	0
DSN1	79980	broad.mit.edu	37	20	35399437	35399437	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr20:35399437C>T	ENST00000426836.1	-	3	566	c.194G>A	c.(193-195)tGt>tAt	p.C65Y	DSN1_ENST00000373745.3_Missense_Mutation_p.C65Y|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000448110.2_Missense_Mutation_p.C49Y|DSN1_ENST00000373750.4_Missense_Mutation_p.C65Y	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	65					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	p.C65Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				GCTGAGATCACAATTTCCCCC	0.478													11	186	---	---	---	---	0	0
SUSD2	56241	broad.mit.edu	37	22	24581177	24581177	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr22:24581177G>C	ENST00000358321.3	+	6	1159	c.898G>C	c.(898-900)Gag>Cag	p.E300Q		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	300	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	p.E300Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GGAGGAGCTGGAGGATCAGCT	0.672													10	46	---	---	---	---	0	0
ESPNP	0	broad.mit.edu	37	1	17046492	17046492	+	RNA	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:17046492G>T	ENST00000492551.1	-	0	160					NR_026567.1																						CCTCAGGGAGGGGAAGTCTCC	0.627													5	62	---	---	---	---	0	0
UBR4	23352	broad.mit.edu	37	1	19488928	19488928	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:19488928G>T	ENST00000375267.2	-	35	4945	c.4942C>A	c.(4942-4944)Cag>Aag	p.Q1648K	UBR4_ENST00000375217.2_Missense_Mutation_p.Q1648K|UBR4_ENST00000375226.2_Missense_Mutation_p.Q1648K|UBR4_ENST00000375254.3_Missense_Mutation_p.Q1648K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1648					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCCTCAGCCTGGGAATCTTCC	0.502													8	174	---	---	---	---	0	0
DNALI1	7802	broad.mit.edu	37	1	38023281	38023281	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:38023281C>A	ENST00000296218.7	+	2	235	c.225C>A	c.(223-225)ccC>ccA	p.P75P	DNALI1_ENST00000541606.1_5'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	53					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAAGCTCCCCTCAACTCCCT	0.562													7	202	---	---	---	---	0	0
MFSD2A	84879	broad.mit.edu	37	1	40422864	40422864	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:40422864C>A	ENST00000372809.5	+	2	342	c.199C>A	c.(199-201)Ctt>Att	p.L67I	MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.L67I	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	67					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGGTTTCTTCCTTCAGATCTA	0.532													8	217	---	---	---	---	0	0
FOXJ3	22887	broad.mit.edu	37	1	42657173	42657173	+	Silent	SNP	G	G	T	rs1139979		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:42657173G>T	ENST00000372572.1	-	11	1463	c.1152C>A	c.(1150-1152)ccC>ccA	p.P384P	FOXJ3_ENST00000372573.1_Silent_p.P384P|FOXJ3_ENST00000361346.1_Silent_p.P384P|FOXJ3_ENST00000545068.1_Silent_p.P384P|FOXJ3_ENST00000361776.1_Silent_p.P350P	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	384					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCGGTCGATGGGGAGGATGTG	0.602													9	194	---	---	---	---	0	0
DPYD	1806	broad.mit.edu	37	1	98039454	98039454	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:98039454C>A	ENST00000370192.3	-	11	1301	c.1201G>T	c.(1201-1203)Ggg>Tgg	p.G401W		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	401					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACAATTCTCCCACCTTTTACT	0.413													5	84	---	---	---	---	0	0
DPH5	51611	broad.mit.edu	37	1	101479332	101479332	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:101479332C>A	ENST00000370109.3	-	4	415	c.303G>T	c.(301-303)ctG>ctT	p.L101L	DPH5_ENST00000488176.1_Silent_p.L101L|DPH5_ENST00000342173.7_Silent_p.L101L|DPH5_ENST00000370105.3_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	101					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		AAGGAATTCCCAGCTTTGTTG	0.383													6	119	---	---	---	---	0	0
CELSR2	1952	broad.mit.edu	37	1	109794119	109794119	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:109794119G>T	ENST00000271332.3	+	1	1479	c.1418G>T	c.(1417-1419)cGg>cTg	p.R473L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	473	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TACACCCTACGGGTGCGAGCA	0.557													6	236	---	---	---	---	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561888	145561888	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:145561888C>A	ENST00000355594.4	+	10	1663	c.1576C>A	c.(1576-1578)Cgt>Agt	p.R526S		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	526										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGGACTCCCCGTGCTGAGGC	0.622													5	186	---	---	---	---	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783602	149783602	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:149783602G>T	ENST00000427880.2	-	1	323	c.277C>A	c.(277-279)Cgc>Agc	p.R93S	HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	93					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGGATCTCGCGGGATGTGATG	0.647													6	68	---	---	---	---	0	0
MTX1	4580	broad.mit.edu	37	1	155181949	155181949	+	Missense_Mutation	SNP	G	G	T	rs139091255	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:155181949G>T	ENST00000368376.3	+	4	816	c.710G>T	c.(709-711)cGg>cTg	p.R237L	RP11-263K19.6_ENST00000455788.1_RNA|MTX1_ENST00000316721.4_Intron|MTX1_ENST00000495589.1_3'UTR|MTX1_ENST00000609421.1_Missense_Mutation_p.R88L	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	237					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGTCAGCTCGGCAAGGGGCA	0.577													4	63	---	---	---	---	0	0
ADCY10	55811	broad.mit.edu	37	1	167802321	167802321	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:167802321G>T	ENST00000367848.1	-	25	3718	c.3221C>A	c.(3220-3222)cCt>cAt	p.P1074H	ADCY10_ENST00000545172.1_Missense_Mutation_p.P1013H|ADCY10_ENST00000367851.4_Missense_Mutation_p.P1166H			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1166					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TAAGTTGTAAGGAAAGATTCG	0.473													8	352	---	---	---	---	0	0
ASTN1	460	broad.mit.edu	37	1	176913135	176913135	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:176913135C>T	ENST00000367654.3	-	14	2504	c.2293G>A	c.(2293-2295)Ggt>Agt	p.G765S	ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGTCTAAACCACGAGCAAAG	0.483													17	59	---	---	---	---	0	0
ASTN1	460	broad.mit.edu	37	1	177030392	177030392	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:177030392C>A	ENST00000367654.3	-	2	504	c.293G>T	c.(292-294)gGg>gTg	p.G98V	ASTN1_ENST00000361833.2_Missense_Mutation_p.G98V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.G98V|ASTN1_ENST00000424564.2_Missense_Mutation_p.G98V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCTGTGTTCCCTGAGATCTC	0.483													6	126	---	---	---	---	0	0
RASAL2	9462	broad.mit.edu	37	1	178425884	178425884	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:178425884C>A	ENST00000448150.3	+	13	3025	c.2207C>A	c.(2206-2208)cCt>cAt	p.P736H	RASAL2_ENST00000462775.1_Missense_Mutation_p.P606H|RASAL2_ENST00000367649.3_Missense_Mutation_p.P747H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	606					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGGCCTCTCCCTCGTGTTCTT	0.448													8	305	---	---	---	---	0	0
KCNT2	343450	broad.mit.edu	37	1	196254844	196254844	+	Silent	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:196254844C>T	ENST00000367433.5	-	22	2669	c.2568G>A	c.(2566-2568)ctG>ctA	p.L856L	KCNT2_ENST00000609185.1_Silent_p.L806L|KCNT2_ENST00000294725.9_Silent_p.L880L|KCNT2_ENST00000367431.4_Silent_p.L806L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	880						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGCAAAAGGCAGTCGAAACA	0.373													15	44	---	---	---	---	0	0
G0S2	50486	broad.mit.edu	37	1	209849324	209849324	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:209849324C>A	ENST00000367029.4	+	2	457	c.295C>A	c.(295-297)Cgg>Agg	p.R99R	RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1switch 2	99					cell cycle					large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CCTGTCCAACCGGCAGCACGC	0.662													4	49	---	---	---	---	0	0
HHAT	55733	broad.mit.edu	37	1	210796981	210796981	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:210796981G>T	ENST00000367010.1	+	11	1584	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	HHAT_ENST00000413764.2_Missense_Mutation_p.G453W|HHAT_ENST00000391905.3_Missense_Mutation_p.G453W|HHAT_ENST00000537898.1_Missense_Mutation_p.G388W|HHAT_ENST00000367009.1_Missense_Mutation_p.G143W|HHAT_ENST00000261458.3_Missense_Mutation_p.G453W|HHAT_ENST00000541565.1_Missense_Mutation_p.G316W|HHAT_ENST00000545154.1_Missense_Mutation_p.G454W|HHAT_ENST00000545781.1_Missense_Mutation_p.G390W|HHAT_ENST00000308852.6_Missense_Mutation_p.G408W	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	453	GTP-binding (Probable).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CAATGAGGTTGGGAAAACCTA	0.488													8	275	---	---	---	---	0	0
COG2	22796	broad.mit.edu	37	1	230824182	230824182	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:230824182C>A	ENST00000534989.1	+	15	1826	c.1491C>A	c.(1489-1491)tcC>tcA	p.S497S	COG2_ENST00000366669.4_Silent_p.S556S|COG2_ENST00000366668.3_Silent_p.S555S|COG2_ENST00000490900.1_3'UTR|COG2_ENST00000535166.1_Silent_p.S440S|COG2_ENST00000546013.1_Silent_p.S245S			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	556					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGGAGGACTCCCAGAGCTCTT	0.458													5	86	---	---	---	---	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128879	248128879	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:248128879C>A	ENST00000366480.3	+	1	345	c.246C>A	c.(244-246)tcC>tcA	p.S82S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCAGCTCTCCATCGTTGACC	0.463													6	161	---	---	---	---	0	0
PGBD2	0	broad.mit.edu	37	1	249212551	249212551	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:249212551C>A	ENST00000355360.4	+	3	1285	c.1015C>A	c.(1015-1017)Cac>Aac	p.H339N	PGBD2_ENST00000329291.5_Missense_Mutation_p.H590N|PGBD2_ENST00000539153.1_Missense_Mutation_p.H587N	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	590										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAGGGAGTACCACATCCGGTG	0.478													7	104	---	---	---	---	0	0
DYSF	8291	broad.mit.edu	37	2	71816722	71816722	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:71816722G>T	ENST00000258104.3	+	31	3625		c.e31-1		DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000409582.3_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin							cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGTGTCTCCAGGGCGGCGTGA	0.562													6	126	---	---	---	---	0	0
SUCLG1	8802	broad.mit.edu	37	2	84670410	84670410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:84670410C>A	ENST00000393868.2	-	3	526	c.316G>T	c.(316-318)Gag>Tag	p.E106*		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	106					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CTAATTACCTCCTTCACAGTA	0.453													7	152	---	---	---	---	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274259	103274259	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:103274259G>T	ENST00000233969.2	+	2	668	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	176						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGCTGTGGTAGGGACACTTTG	0.512													9	334	---	---	---	---	0	0
LRP2	4036	broad.mit.edu	37	2	170139490	170139490	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:170139490C>A	ENST00000263816.3	-	10	1349	c.1064G>T	c.(1063-1065)tGg>tTg	p.W355L	LRP2_ENST00000443831.1_Missense_Mutation_p.W355L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	355	EGF-like 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAAATTCCCCATATCTGGCA	0.423													6	184	---	---	---	---	0	0
DNAH7	56171	broad.mit.edu	37	2	196729546	196729546	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:196729546C>A	ENST00000312428.6	-	41	6933	c.6833G>T	c.(6832-6834)aGg>aTg	p.R2278M		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2278					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGTATCCTCCCTCTTGGGATC	0.378													7	179	---	---	---	---	0	0
IGFBP5	3488	broad.mit.edu	37	2	217541551	217541551	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:217541551C>A	ENST00000233813.4	-	4	1491	c.742G>T	c.(742-744)Ggg>Tgg	p.G248W		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	248	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTTCATCCCGTACTTGTCC	0.617													7	168	---	---	---	---	0	0
SERPINE2	5270	broad.mit.edu	37	2	224849668	224849668	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:224849668C>A	ENST00000409840.3	-	6	1346		c.e6-1		SERPINE2_ENST00000447280.2_Splice_Site|SERPINE2_ENST00000258405.4_Splice_Site|SERPINE2_ENST00000409304.1_Splice_Site			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2						negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTGTCGACCCTAAAGAAATC	0.493													5	47	---	---	---	---	0	0
AGAP1	116987	broad.mit.edu	37	2	236792052	236792052	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:236792052C>A	ENST00000304032.8	+	10	1694	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	AGAP1_ENST00000428334.2_Missense_Mutation_p.L211M|AGAP1_ENST00000336665.5_Missense_Mutation_p.L372M|AGAP1_ENST00000409538.1_Missense_Mutation_p.L637M	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATATGTCACCCTGTGTGACAA	0.443													6	101	---	---	---	---	0	0
COL6A3	1293	broad.mit.edu	37	2	238274668	238274668	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:238274668C>A	ENST00000295550.4	-	12	5963	c.5511G>T	c.(5509-5511)ctG>ctT	p.L1837L	COL6A3_ENST00000409809.1_Silent_p.L1631L|COL6A3_ENST00000472056.1_Silent_p.L1230L|COL6A3_ENST00000346358.4_Silent_p.L1637L|COL6A3_ENST00000353578.4_Silent_p.L1631L|COL6A3_ENST00000347401.3_Silent_p.L1636L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1837	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAATCACATCCAGATTACAAG	0.502													6	108	---	---	---	---	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036052	9036052	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:9036052G>T	ENST00000383836.3	-	19	2810	c.2383C>A	c.(2383-2385)Cat>Aat	p.H795N	SRGAP3_ENST00000360413.3_Missense_Mutation_p.H771N	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	795					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ATGTACTGATGGGGGATGAGT	0.562			T	RAF1	pilocytic astrocytoma								5	95	---	---	---	---	0	0
SETD5	55209	broad.mit.edu	37	3	9512274	9512274	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:9512274C>A	ENST00000402466.1	+	20	3330	c.2562C>A	c.(2560-2562)ccC>ccA	p.P854P	SETD5_ENST00000302463.6_Silent_p.P854P|SETD5_ENST00000407969.1_Silent_p.P971P|SETD5_ENST00000406341.1_Silent_p.P952P|SETD5_ENST00000402198.1_Silent_p.P952P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	952										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCCTCGGACCCACTTCTGAGA	0.502													6	148	---	---	---	---	0	0
BRPF1	7862	broad.mit.edu	37	3	9781219	9781219	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:9781219C>A	ENST00000383829.2	+	3	1540	c.1136C>A	c.(1135-1137)cCa>cAa	p.P379Q	BRPF1_ENST00000302054.3_Missense_Mutation_p.P379Q|BRPF1_ENST00000424362.1_Missense_Mutation_p.P379Q|BRPF1_ENST00000457855.1_Missense_Mutation_p.P379Q|BRPF1_ENST00000433861.2_Missense_Mutation_p.P379Q	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	379					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACATCCCACCAGCTCGCTGG	0.572													6	168	---	---	---	---	0	0
ATP2B2	491	broad.mit.edu	37	3	10443926	10443926	+	Silent	SNP	C	C	A	rs149226182		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:10443926C>A	ENST00000397077.1	-	6	1079	c.504G>T	c.(502-504)acG>acT	p.T168T	ATP2B2_ENST00000352432.4_Silent_p.T168T|ATP2B2_ENST00000383800.4_Silent_p.T168T|ATP2B2_ENST00000360273.2_Silent_p.T168T|ATP2B2_ENST00000343816.4_Silent_p.T168T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	168					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CATTGAAGGCCGTGACCAGGA	0.612													6	218	---	---	---	---	0	0
RTP3	83597	broad.mit.edu	37	3	46539657	46539657	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:46539657C>A	ENST00000296142.3	+	1	677	c.105C>A	c.(103-105)ccC>ccA	p.P35P		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	35					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GCCTTCTTCCCAACGTCCTGA	0.532													5	75	---	---	---	---	0	0
QARS	5859	broad.mit.edu	37	3	49136858	49136858	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:49136858C>A	ENST00000306125.6	-	17	1870	c.1533G>T	c.(1531-1533)tgG>tgT	p.W511C	QARS_ENST00000414533.1_Missense_Mutation_p.W500C			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	511					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTGGGTCATCCCAGTCCCTGT	0.577													6	94	---	---	---	---	0	0
IQCF1	132141	broad.mit.edu	37	3	51929026	51929026	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:51929026C>A	ENST00000310914.5	-	4	560	c.498G>T	c.(496-498)cgG>cgT	p.R166R		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	166										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGATGAACCCCCGGGAAGCAC	0.587													7	177	---	---	---	---	0	0
FLNB	2317	broad.mit.edu	37	3	58149009	58149009	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:58149009C>A	ENST00000295956.4	+	43	7315	c.7150C>A	c.(7150-7152)Cct>Act	p.P2384T	FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.P2191T|FLNB_ENST00000419752.2_Missense_Mutation_p.P2204T|FLNB_ENST00000358537.3_Missense_Mutation_p.P2360T|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000490882.1_Missense_Mutation_p.P2415T|FLNB_ENST00000348383.5_Missense_Mutation_p.P2343T|FLNB_ENST00000429972.2_Missense_Mutation_p.P2373T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2384	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGCGGGGAACCCTGCCCTGGT	0.587													5	70	---	---	---	---	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58196539	58196539	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:58196539C>A	ENST00000483681.1	-	3	676	c.95G>T	c.(94-96)gGg>gTg	p.G32V	DNASE1L3_ENST00000318316.3_Missense_Mutation_p.G32V|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.G32V|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.G32V			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	32					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CTTGCTTTCCCCAAAGGACCT	0.587													7	219	---	---	---	---	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601680	64601680	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:64601680C>A	ENST00000498707.1	-	20	3322	c.2980G>T	c.(2980-2982)Ggg>Tgg	p.G994W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G966W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	994	TSP type-1 3.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTACATTCCCCTGAGCATTTT	0.483													8	304	---	---	---	---	0	0
NIT2	56954	broad.mit.edu	37	3	100059940	100059940	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:100059940G>T	ENST00000394140.4	+	4	362	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2		CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AGAGGATGCTGGGAAATTATA	0.373													4	41	---	---	---	---	0	0
ABI3BP	25890	broad.mit.edu	37	3	100489676	100489676	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:100489676G>T	ENST00000471714.1	-	61	4734	c.4625C>A	c.(4624-4626)cCa>cAa	p.P1542Q	ABI3BP_ENST00000284322.5_Missense_Mutation_p.P840Q|ABI3BP_ENST00000383691.4_Missense_Mutation_p.P794Q			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	840						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTGGTGGGTGGGTTCTGTGG	0.537													6	135	---	---	---	---	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119217641	119217641	+	Silent	SNP	C	C	A	rs148112033		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:119217641C>A	ENST00000494664.1	+	1	263	c.61C>A	c.(61-63)Cga>Aga	p.R21R	TIMMDC1_ENST00000493694.1_Silent_p.R21R	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	21						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CCTATTTCCCCGAGTCTTTGC	0.587													7	233	---	---	---	---	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459555	122459555	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:122459555G>A	ENST00000306103.2	-	8	1247	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	368						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TACCTGTTTGGCCCACCTCCA	0.502													29	296	---	---	---	---	0	0
ZNF148	7707	broad.mit.edu	37	3	124952115	124952115	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:124952115C>A	ENST00000360647.4	-	9	1940	c.1455G>T	c.(1453-1455)agG>agT	p.R485S	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.R485S|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.R485S|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.R485S	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	485					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GCGCATATTCCCTGCTGTTGT	0.448													7	172	---	---	---	---	0	0
MGLL	11343	broad.mit.edu	37	3	127540540	127540540	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:127540540G>T	ENST00000434178.2	-	2	1018	c.122C>A	c.(121-123)cCc>cAc	p.P41H	MGLL_ENST00000265052.5_Missense_Mutation_p.P51H|MGLL_ENST00000398104.1_Missense_Mutation_p.P41H|MGLL_ENST00000453507.2_Missense_Mutation_p.P51H			Q99685	MGLL_HUMAN	monoglyceride lipase	41					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GACTTACTTGGGTGTGCCTGT	0.602													5	86	---	---	---	---	0	0
BFSP2	8419	broad.mit.edu	37	3	133119045	133119045	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:133119045C>A	ENST00000302334.2	+	1	207	c.118C>A	c.(118-120)Cca>Aca	p.P40T		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	40	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GGAGAGCCCCCCAGCCTCCAG	0.652													6	77	---	---	---	---	0	0
DHX36	170506	broad.mit.edu	37	3	154042043	154042043	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:154042043C>A	ENST00000496811.1	-	1	243	c.163G>T	c.(163-165)Ggg>Tgg	p.G55W	DHX36_ENST00000308361.6_Missense_Mutation_p.G55W|DHX36_ENST00000329463.5_Missense_Mutation_p.G55W|DHX36_ENST00000544526.1_Missense_Mutation_p.G55W	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	55	Gly-rich.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCAGGTGCCCGGGATGCCGG	0.647													6	124	---	---	---	---	0	0
MCF2L2	23101	broad.mit.edu	37	3	183059415	183059415	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:183059415C>A	ENST00000328913.3	-	4	576	c.279G>T	c.(277-279)gtG>gtT	p.V93V	MCF2L2_ENST00000447025.2_Silent_p.V93V|MCF2L2_ENST00000414362.2_Silent_p.V93V|MCF2L2_ENST00000473233.1_Silent_p.V93V	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	93	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGGCAGCCTCCACACTGCAAA	0.483													4	39	---	---	---	---	0	0
SST	6750	broad.mit.edu	37	3	187386923	187386923	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:187386923G>T	ENST00000287641.3	-	2	388	c.281C>A	c.(280-282)cCg>cAg	p.P94Q		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	94					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	TGCCATAGCCGGGTTTGAGTT	0.488													7	331	---	---	---	---	0	0
PAK2	5062	broad.mit.edu	37	3	196509570	196509570	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:196509570T>A	ENST00000327134.3	+	2	375	c.53T>A	c.(52-54)aTg>aAg	p.M18K		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	18					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCTGTGCGAATGAGCAGCACC	0.443													10	216	---	---	---	---	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445720	10445720	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:10445720A>G	ENST00000326756.3	-	3	2671	c.2233T>C	c.(2233-2235)Tat>Cat	p.Y745H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGTGTGGATATATTTGTTGA	0.468													27	112	---	---	---	---	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616973	13616973	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:13616973G>T	ENST00000040738.5	-	3	657	c.522C>A	c.(520-522)ccC>ccA	p.P174P		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	174							DNA binding										TCTCATCATCGGGAGCTGTGT	0.423													7	266	---	---	---	---	0	0
SLIT2	9353	broad.mit.edu	37	4	20255609	20255609	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:20255609C>A	ENST00000504154.1	+	1	423	c.171C>A	c.(169-171)acC>acA	p.T57T	SLIT2_ENST00000273739.5_Silent_p.T57T|SLIT2_ENST00000503823.1_Silent_p.T57T|SLIT2_ENST00000503837.1_Silent_p.T57T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	57					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.T57T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCCGCAACACCGAGAGACTGT	0.677													4	107	---	---	---	---	0	0
TBC1D1	23216	broad.mit.edu	37	4	38119787	38119787	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:38119787C>A	ENST00000261439.4	+	17	3291	c.2936C>A	c.(2935-2937)cCg>cAg	p.P979Q	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	979	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCACAGTTCCCGCTGGGATTC	0.527													5	159	---	---	---	---	0	0
NFKB1	4790	broad.mit.edu	37	4	103528395	103528395	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:103528395G>T	ENST00000226574.4	+	18	2510	c.2043G>T	c.(2041-2043)caG>caT	p.Q681H	NFKB1_ENST00000505458.1_Missense_Mutation_p.Q680H|NFKB1_ENST00000600343.1_Missense_Mutation_p.Q500H|NFKB1_ENST00000394820.4_Missense_Mutation_p.Q680H	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	680	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCAATGCTCAGGAGCAGAAGT	0.567													6	115	---	---	---	---	0	0
TBCK	93627	broad.mit.edu	37	4	107092337	107092337	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:107092337G>T	ENST00000273980.5	-	24	2597	c.2150C>A	c.(2149-2151)cCa>cAa	p.P717Q	TBCK_ENST00000361687.4_Missense_Mutation_p.P654Q|TBCK_ENST00000394706.3_Missense_Mutation_p.P678Q|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000432496.2_Missense_Mutation_p.P717Q|TBCK_ENST00000394708.2_Missense_Mutation_p.P717Q			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase							intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGATGGCTTTGGAGGTTGAGC	0.443													6	128	---	---	---	---	0	0
ANK2	287	broad.mit.edu	37	4	114275162	114275162	+	Silent	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:114275162C>T	ENST00000357077.4	+	38	5441	c.5388C>T	c.(5386-5388)gaC>gaT	p.D1796D	ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1763	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAAGGAGGACGTGCCAAAAA	0.517													22	130	---	---	---	---	0	0
KIAA1109	84162	broad.mit.edu	37	4	123179972	123179972	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:123179972C>A	ENST00000264501.4	+	42	7109	c.6736C>A	c.(6736-6738)Cat>Aat	p.H2246N	KIAA1109_ENST00000455637.1_Missense_Mutation_p.H2246N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H2246N			Q2LD37	K1109_HUMAN	KIAA1109	2246					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AACTCATACCCATAGTGACTC	0.363													4	39	---	---	---	---	0	0
INTU	27152	broad.mit.edu	37	4	128626838	128626838	+	Silent	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:128626838A>G	ENST00000335251.6	+	11	1762	c.1659A>G	c.(1657-1659)aaA>aaG	p.K553K	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TAGCAGCAAAACAAAGAATTG	0.438													25	127	---	---	---	---	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643199	156643199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:156643199G>T	ENST00000296518.7	+	9	1935	c.1726G>T	c.(1726-1728)Gga>Tga	p.G576*	GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.G318*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.G576*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	576	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GATGCGAATTGGACTGCACTC	0.403													7	236	---	---	---	---	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734829	173734829	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:173734829C>A	ENST00000506823.1	+	7	1535	c.878C>A	c.(877-879)cCc>cAc	p.P293H	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P276H	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	293						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AAAAGAATCCCCATCCCTCCA	0.557													6	52	---	---	---	---	0	0
WDR17	116966	broad.mit.edu	37	4	177052766	177052766	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:177052766C>A	ENST00000393643.2	+	7	1227	c.975C>A	c.(973-975)ccC>ccA	p.P325P	WDR17_ENST00000507824.2_Silent_p.P332P|WDR17_ENST00000280190.4_Silent_p.P349P|WDR17_ENST00000508596.1_Silent_p.P325P	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	349										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGTTCCACCCCCAACTTTAA	0.388													8	179	---	---	---	---	0	0
NIPBL	25836	broad.mit.edu	37	5	37020937	37020937	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:37020937C>A	ENST00000282516.8	+	27	5785	c.5286C>A	c.(5284-5286)tcC>tcA	p.S1762S	NIPBL_ENST00000448238.2_Silent_p.S1762S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1762					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTTGGCCTCCATGAGGCCGT	0.348													7	250	---	---	---	---	0	0
C9	735	broad.mit.edu	37	5	39311238	39311238	+	Splice_Site	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:39311238C>T	ENST00000263408.4	-	7	1207		c.e7+1			NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9						complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTAGGCATACCTTTCCGCTT	0.368													17	45	---	---	---	---	0	0
FBXO4	26272	broad.mit.edu	37	5	41939622	41939622	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:41939622G>T	ENST00000281623.3	+	6	1034	c.978G>T	c.(976-978)ttG>ttT	p.L326F	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	326					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GACCATTGTTGGTTTTATCTT	0.393													7	134	---	---	---	---	0	0
FGF10	2255	broad.mit.edu	37	5	44388499	44388499	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:44388499C>A	ENST00000264664.4	-	1	400	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	96					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					CTGACCTTCCCGTTCTTCTCA	0.532													6	90	---	---	---	---	0	0
SPATA9	83890	broad.mit.edu	37	5	95018262	95018262	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:95018262G>T	ENST00000274432.8	-	2	261	c.120C>A	c.(118-120)ccC>ccA	p.P40P	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Silent_p.P40P|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	40					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TTAGGATGGTGGGAAATTCAT	0.308													6	93	---	---	---	---	0	0
CTD-2215E18.1	0	broad.mit.edu	37	5	96518937	96518937	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:96518937C>A	ENST00000509481.1	+	4	799	c.258C>A	c.(256-258)gcC>gcA	p.A86A	RIOK2_ENST00000283109.3_5'UTR																urinary_tract(1)	1						CGACGACAGCCGCAAAGCGTA	0.557													4	90	---	---	---	---	0	0
ZNF608	57507	broad.mit.edu	37	5	124036819	124036819	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:124036819C>A	ENST00000306315.5	-	2	1485	c.1050G>T	c.(1048-1050)gtG>gtT	p.V350V	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	350						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TATTGACACCCACAGAACGAG	0.512													5	82	---	---	---	---	0	0
C5orf56	441108	broad.mit.edu	37	5	131796342	131796342	+	Silent	SNP	C	C	A	rs140600303		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:131796342C>A	ENST00000337752.2	+	4	308	c.177C>A	c.(175-177)ccC>ccA	p.P59P	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	59								p.P59P(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ctgccttccccgtggagtaca	0.483													6	218	---	---	---	---	0	0
8-Sep	23176	broad.mit.edu	37	5	132098260	132098260	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:132098260C>A	ENST00000296873.7	-	5	895	c.612G>T	c.(610-612)atG>atT	p.M204I	SEPT8_ENST00000378699.2_Missense_Mutation_p.M144I|SEPT8_ENST00000448933.1_Missense_Mutation_p.M144I|SEPT8_ENST00000378701.1_Missense_Mutation_p.M202I|SEPT8_ENST00000378719.2_Missense_Mutation_p.M204I|SEPT8_ENST00000378721.4_Missense_Mutation_p.M202I|SEPT8_ENST00000458488.2_Missense_Mutation_p.M204I|SEPT8_ENST00000378706.1_Missense_Mutation_p.M204I	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	204					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAACTCGCCCATGATCTTGA	0.532													5	98	---	---	---	---	0	0
KDM3B	51780	broad.mit.edu	37	5	137722057	137722057	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:137722057G>T	ENST00000314358.5	+	7	1327	c.1127G>T	c.(1126-1128)gGg>gTg	p.G376V	KDM3B_ENST00000394866.1_Missense_Mutation_p.G32V	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	376					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCTGTAGGTGGGGACACACCT	0.522													11	285	---	---	---	---	0	0
CD14	929	broad.mit.edu	37	5	140011612	140011612	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:140011612G>T	ENST00000302014.6	-	2	1586	c.957C>A	c.(955-957)ccC>ccA	p.P319P	CD14_ENST00000401743.2_Silent_p.P319P	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	319					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCCACCTCGGGCAGCTCGT	0.627													4	43	---	---	---	---	0	0
PCDHGC3	0	broad.mit.edu	37	5	140857427	140857427	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:140857427C>A	ENST00000308177.3	+	1	1848	c.1744C>A	c.(1744-1746)Cga>Aga	p.R582R	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCTGCCTCGAGGTACCTC	0.582											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	54	---	---	---	---	0	0
DPYSL3	1809	broad.mit.edu	37	5	146773669	146773669	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:146773669C>A	ENST00000343218.5	-	14	2181	c.1984G>T	c.(1984-1986)Ggg>Tgg	p.G662W	DPYSL3_ENST00000398514.3_Missense_Mutation_p.G548W|DPYSL3_ENST00000534907.1_Missense_Mutation_p.G174W	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	548					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGAACCCCCTCATCCACT	0.537													6	73	---	---	---	---	0	0
STC2	8614	broad.mit.edu	37	5	172752929	172752929	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:172752929C>A	ENST00000265087.4	-	2	1545	c.236G>T	c.(235-237)cGg>cTg	p.R79L		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	79					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATGTAAGCCCCGAATCTCACA	0.468													9	357	---	---	---	---	0	0
HIST1H4A	8359	broad.mit.edu	37	6	26021990	26021990	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:26021990G>T	ENST00000359907.3	+	1	84	c.84G>T	c.(82-84)caG>caT	p.Q28H		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	28					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|skin(1)	2						ACAACATCCAGGGCATCACCA	0.622													5	57	---	---	---	---	0	0
TULP1	7287	broad.mit.edu	37	6	35477698	35477698	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:35477698C>A	ENST00000229771.6	-	6	586	c.507G>T	c.(505-507)ctG>ctT	p.L169L	TULP1_ENST00000322263.4_Silent_p.L116L	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	169					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGGGCTTCCCAGGTCTCCTG	0.567													5	110	---	---	---	---	0	0
DNAH8	1769	broad.mit.edu	37	6	38747769	38747769	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:38747769G>T	ENST00000359357.3	+	13	1670	c.1416G>T	c.(1414-1416)ctG>ctT	p.L472L	DNAH8_ENST00000441566.1_Silent_p.L472L|DNAH8_ENST00000449981.2_Silent_p.L689L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCCCTGTCTGGGATTAGAAA	0.343													5	45	---	---	---	---	0	0
CUL9	23113	broad.mit.edu	37	6	43188277	43188277	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:43188277C>A	ENST00000252050.4	+	32	6447	c.6363C>A	c.(6361-6363)ccC>ccA	p.P2121P	CUL9_ENST00000354495.3_Silent_p.P2011P|CUL9_ENST00000372647.2_Silent_p.P2093P|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2121					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCGACTGCCCCGCCCAGCCCA	0.582													6	220	---	---	---	---	0	0
BAI3	577	broad.mit.edu	37	6	70049277	70049277	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:70049277A>T	ENST00000370598.1	+	26	4161	c.3340A>T	c.(3340-3342)Atg>Ttg	p.M1114L	BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1114					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTGACGTGGATGTCTGCGGT	0.453													44	171	---	---	---	---	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130425710	130425710	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:130425710C>A	ENST00000529410.1	+	21	2355	c.1876C>A	c.(1876-1878)Cct>Act	p.P626T	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.P601T|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.P626T|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.P626T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.P601T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.P601T			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	626					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.P626T(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTCTTCTTCCCCTGAAATCAG	0.348													7	128	---	---	---	---	0	0
TAAR8	83551	broad.mit.edu	37	6	132874239	132874239	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:132874239C>A	ENST00000275200.1	+	1	408	c.408C>A	c.(406-408)ccC>ccA	p.P136P		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	136						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTACTGATCCCCTGGTCTATG	0.488													10	392	---	---	---	---	0	0
AHI1	54806	broad.mit.edu	37	6	135679325	135679325	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:135679325C>A	ENST00000367800.4	-	22	3326	c.3110G>T	c.(3109-3111)gGg>gTg	p.G1037V	AHI1_ENST00000457866.2_Splice_Site_p.G1037V|AHI1_ENST00000417892.2_Splice_Site_p.G391V	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1037						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GCTGATAATCCCTGTGGAAAG	0.343													11	367	---	---	---	---	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597547	136597547	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:136597547C>A	ENST00000531224.1	-	5	1368	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E372D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E370D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E370D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E370D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	372					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCATTCTCCCTCTGCCCTCC	0.433													9	382	---	---	---	---	0	0
UTRN	7402	broad.mit.edu	37	6	145093097	145093097	+	Silent	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:145093097A>G	ENST00000367545.3	+	58	8550	c.8550A>G	c.(8548-8550)caA>caG	p.Q2850Q	UTRN_ENST00000367526.4_Silent_p.Q405Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2850	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACTCTTTCAATCCCTTGGTA	0.269													4	85	---	---	---	---	0	0
EPM2A	7957	broad.mit.edu	37	6	145948584	145948584	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:145948584C>A	ENST00000367519.3	-	4	1489	c.964G>T	c.(964-966)Ggg>Tgg	p.G322W		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	322					glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		CGAACCTTCCCAAATTTCTGG	0.522													6	164	---	---	---	---	0	0
GRM1	2911	broad.mit.edu	37	6	146755763	146755763	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:146755763C>A	ENST00000361719.2	+	9	3886	c.3416C>A	c.(3415-3417)cCg>cAg	p.P1139Q	GRM1_ENST00000282753.1_Missense_Mutation_p.P1139Q|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1139					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AAACTGACCCCGGATGATTCG	0.657													5	96	---	---	---	---	0	0
RAET1E	135250	broad.mit.edu	37	6	150209736	150209736	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:150209736C>A	ENST00000357183.4	-	4	822	c.690G>T	c.(688-690)ctG>ctT	p.L230L	RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L194L|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Intron	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	230					antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TGAATGCCCCCAGGATGATCC	0.418													6	84	---	---	---	---	0	0
RAET1E	135250	broad.mit.edu	37	6	150211085	150211085	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:150211085C>A	ENST00000532335.1	-	3	628	c.282G>T	c.(280-282)ctG>ctT	p.L94L	RAET1E_ENST00000357183.4_Silent_p.L94L|RAET1E_ENST00000529948.1_Silent_p.L94L|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L58L|RAET1E-AS1_ENST00000605899.1_RNA	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	94	MHC class I alpha-1 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCACTTCTCCCAGCGTTTGGG	0.532													5	101	---	---	---	---	0	0
ULBP3	79465	broad.mit.edu	37	6	150386567	150386567	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:150386567G>T	ENST00000367339.2	-	3	623	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	ULBP3_ENST00000438272.2_Missense_Mutation_p.L199M			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3		MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CTGTGCATCAGGAAGTCCCTA	0.532													7	110	---	---	---	---	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151130591	151130591	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:151130591C>A	ENST00000367328.1	+	10	1482	c.1170C>A	c.(1168-1170)ccC>ccA	p.P390P	PLEKHG1_ENST00000358517.2_Silent_p.P390P	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	390	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACAAGAATCCCAAGCTGCAGC	0.552													6	106	---	---	---	---	0	0
LPAL2	0	broad.mit.edu	37	6	160903810	160903810	+	RNA	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:160903810C>A	ENST00000335388.5	-	0	1073					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TGTCCATTACCGTGGTAGCAC	0.478													6	284	---	---	---	---	0	0
PLG	5340	broad.mit.edu	37	6	161162389	161162389	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:161162389C>A	ENST00000308192.9	+	17	2128	c.2065C>A	c.(2065-2067)Cca>Aca	p.P689T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	689	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCTGCCATCCCCAAATTATGT	0.478													5	70	---	---	---	---	0	0
T	6862	broad.mit.edu	37	6	166580170	166580170	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:166580170G>T	ENST00000296946.2	-	3	849	c.381C>A	c.(379-381)ccC>ccA	p.P127P	T_ENST00000366871.3_Silent_p.P127P	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	127					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGGCGAGTCGGGGTGGATGT	0.652									Chordoma, Familial Clustering of				5	98	---	---	---	---	0	0
HEATR2	54919	broad.mit.edu	37	7	796443	796443	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:796443G>T	ENST00000297440.6	+	6	1302	c.1282G>T	c.(1282-1284)Ggg>Tgg	p.G428W	HEATR2_ENST00000313147.5_Missense_Mutation_p.G428W	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	428							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AGAGCTCGTCGGGACGTTTGT	0.607													5	208	---	---	---	---	0	0
BRAT1	221927	broad.mit.edu	37	7	2583464	2583464	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:2583464C>A	ENST00000340611.4	-	5	819	c.563G>T	c.(562-564)gGg>gTg	p.G188V		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	188					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CCAGTCACCCCCCGGCAGGCA	0.662													6	93	---	---	---	---	0	0
THSD7A	221981	broad.mit.edu	37	7	11514043	11514043	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:11514043C>A	ENST00000423059.4	-	8	2421	c.2170G>T	c.(2170-2172)Ggg>Tgg	p.G724W	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GAGGCCTCCCCATTCCAAGTC	0.517										HNSCC(18;0.044)			5	109	---	---	---	---	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225294	26225294	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:26225294C>A	ENST00000056233.3	+	4	2235	c.1976C>A	c.(1975-1977)cCc>cAc	p.P659H		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	659					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CCAGTCAATCCCAACCACTAT	0.403													5	78	---	---	---	---	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30084733	30084733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:30084733G>T	ENST00000449726.1	+	2	423	c.73G>T	c.(73-75)Gga>Tga	p.G25*	PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000258679.7_Nonsense_Mutation_p.G25*|PLEKHA8_ENST00000396257.2_Nonsense_Mutation_p.G25*|PLEKHA8_ENST00000396259.1_Nonsense_Mutation_p.G25*	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	25	PH.				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TCTCTGTGGGGGAATATTGTC	0.433													7	162	---	---	---	---	0	0
DDC	1644	broad.mit.edu	37	7	50595942	50595942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:50595942C>A	ENST00000444124.2	-	6	807	c.607G>T	c.(607-609)Gga>Tga	p.G203*	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Nonsense_Mutation_p.G125*|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Nonsense_Mutation_p.G203*|DDC_ENST00000380984.4_Nonsense_Mutation_p.G203*	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	203					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AATTTCACTCCACCAATTAAC	0.532													7	134	---	---	---	---	0	0
DDC	1644	broad.mit.edu	37	7	50611679	50611679	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:50611679G>T	ENST00000444124.2	-	2	305	c.105C>A	c.(103-105)ccC>ccA	p.P35P	DDC_ENST00000426377.1_Silent_p.P35P|DDC_ENST00000431062.1_Silent_p.P35P|DDC_ENST00000357936.5_Silent_p.P35P|DDC_ENST00000380984.4_Silent_p.P35P	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	35					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCAGGTACCCGGGCTCCACGT	0.567													6	226	---	---	---	---	0	0
EIF4H	7458	broad.mit.edu	37	7	73609077	73609077	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:73609077G>T	ENST00000265753.8	+	6	615	c.476G>T	c.(475-477)aGg>aTg	p.R159M	EIF4H_ENST00000353999.6_Missense_Mutation_p.R139M|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	159					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TCAGGCTTCAGGGATGACTTC	0.527													7	169	---	---	---	---	0	0
LMTK2	22853	broad.mit.edu	37	7	97822767	97822767	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:97822767C>A	ENST00000297293.5	+	11	3283	c.2990C>A	c.(2989-2991)cCg>cAg	p.P997Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	997					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGGAAACCCCGGACTCTCTG	0.592													7	186	---	---	---	---	0	0
TRRAP	8295	broad.mit.edu	37	7	98565107	98565107	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:98565107G>T	ENST00000359863.4	+	50	7486		c.e50-1		TRRAP_ENST00000355540.3_Splice_Site|TRRAP_ENST00000446306.3_Splice_Site	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein						histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGTTACAGGGATGAGACC	0.532													5	66	---	---	---	---	0	0
FLNC	2318	broad.mit.edu	37	7	128486957	128486957	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:128486957C>A	ENST00000325888.8	+	24	4547	c.4286C>A	c.(4285-4287)cCa>cAa	p.P1429Q	FLNC_ENST00000346177.6_Missense_Mutation_p.P1429Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1429					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGCCCATCCCAGGTGTGCAG	0.582													5	76	---	---	---	---	0	0
TRBV6-9	0	broad.mit.edu	37	7	142104184	142104184	+	RNA	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:142104184G>T	ENST00000390379.1	-	0	280																											CAGCCTGAGCGGGAAATCCTC	0.517													6	230	---	---	---	---	0	0
HR	55806	broad.mit.edu	37	8	21986433	21986433	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:21986433C>A	ENST00000381418.4	-	2	1731	c.251G>T	c.(250-252)gGg>gTg	p.G84V	HR_ENST00000312841.8_Missense_Mutation_p.G84V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	84							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTTCCTCTCCCCATTCTGGGG	0.667													5	66	---	---	---	---	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22865544	22865544	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:22865544C>A	ENST00000251822.6	+	6	2077	c.1540C>A	c.(1540-1542)Cac>Aac	p.H514N	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H521N|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H536N	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	514	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CATCAGCGCCCACAAGCCCCT	0.562													5	76	---	---	---	---	0	0
PRKDC	5591	broad.mit.edu	37	8	48771540	48771540	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:48771540C>A	ENST00000314191.2	-	48	6268	c.6212G>T	c.(6211-6213)cGg>cTg	p.R2071L	PRKDC_ENST00000338368.3_Missense_Mutation_p.R2071L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2072					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CGTGGGGTCCCGCTGCTCCTG	0.602								Non-homologous end-joining					6	207	---	---	---	---	0	0
KCNB2	9312	broad.mit.edu	37	8	73849836	73849836	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:73849836C>A	ENST00000523207.1	+	3	2834	c.2246C>A	c.(2245-2247)cCg>cAg	p.P749Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	749					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTCACTACCCCGCAGCACATC	0.557													9	205	---	---	---	---	0	0
CDH17	1015	broad.mit.edu	37	8	95183129	95183129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:95183129C>A	ENST00000027335.3	-	8	992	c.868G>T	c.(868-870)Gga>Tga	p.G290*	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Nonsense_Mutation_p.G290*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	290	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TAAATATCTCCTTCCTGGTCA	0.468													6	167	---	---	---	---	0	0
RRM2B	50484	broad.mit.edu	37	8	103231175	103231175	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:103231175C>A	ENST00000251810.3	-	6	794	c.551G>T	c.(550-552)gGg>gTg	p.G184V	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Splice_Site_p.G132V|RRM2B_ENST00000519317.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	184					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			CACTCTTTCCCCTGGGAGACA	0.363								Modulation of nucleotide pools					10	155	---	---	---	---	0	0
DDX58	23586	broad.mit.edu	37	9	32467791	32467791	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:32467791C>A	ENST00000379882.1	-	14	2176	c.2019G>T	c.(2017-2019)gtG>gtT	p.V673V	DDX58_ENST00000379883.2_Silent_p.V718V|DDX58_ENST00000545044.1_Silent_p.V515V|DDX58_ENST00000379868.1_Silent_p.V515V|DDX58_ENST00000542096.1_Silent_p.V647V			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	718	Helicase C-terminal.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGACATTGCCCACATACTCAT	0.403													5	85	---	---	---	---	0	0
KIF24	347240	broad.mit.edu	37	9	34310909	34310909	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:34310909G>T	ENST00000379166.2	-	2	555	c.436C>A	c.(436-438)Cag>Aag	p.Q146K	KIF24_ENST00000345050.2_Missense_Mutation_p.Q146K|KIF24_ENST00000379174.3_Missense_Mutation_p.Q146K|KIF24_ENST00000402558.2_Missense_Mutation_p.Q146K	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	146					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GTATGGTACTGGGAATCATCT	0.398													7	225	---	---	---	---	0	0
PTPDC1	138639	broad.mit.edu	37	9	96850149	96850149	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:96850149C>A	ENST00000375360.3	+	4	631	c.291C>A	c.(289-291)tcC>tcA	p.S97S	PTPDC1_ENST00000288976.3_Silent_p.S149S	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	97							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCCGCCCATCCTCTGAGCTCC	0.463													7	160	---	---	---	---	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136307563	136307563	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:136307563C>A	ENST00000371929.3	+	17	2456	c.2012C>A	c.(2011-2013)cCa>cAa	p.P671Q	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P640Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P671Q|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	671	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCACCCGCCCAGACATCACC	0.622													6	107	---	---	---	---	0	0
APBB1IP	54518	broad.mit.edu	37	10	26800829	26800829	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:26800829C>A	ENST00000376236.4	+	7	1140	c.685C>A	c.(685-687)Caa>Aaa	p.Q229K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	229	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCCGGAACTACAAATTGGTAA	0.433													5	101	---	---	---	---	0	0
CCDC7	221016	broad.mit.edu	37	10	32833174	32833174	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:32833174G>T	ENST00000362006.5	+	14	1622		c.e14-1		CCDC7_ENST00000277657.6_Splice_Site|C10orf68_ENST00000572165.1_Splice_Site	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7											NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTATGTTACAGGAAGATGTCT	0.294													5	97	---	---	---	---	0	0
ZNF248	57209	broad.mit.edu	37	10	38120875	38120875	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:38120875C>A	ENST00000395867.3	-	6	1958	c.1408G>T	c.(1408-1410)Ggg>Tgg	p.G470W	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.G470W|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AAGGATTTCCCACATGCATTA	0.433													6	116	---	---	---	---	0	0
UNC5B	219699	broad.mit.edu	37	10	73050841	73050841	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:73050841C>A	ENST00000335350.6	+	9	1685	c.1269C>A	c.(1267-1269)ccC>ccA	p.P423P	UNC5B_ENST00000373192.4_Silent_p.P412P	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	423					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GTTTCCACCCCGTCAACTTTA	0.597													7	279	---	---	---	---	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81050862	81050862	+	Silent	SNP	C	C	A	rs149025019	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:81050862C>A	ENST00000334512.5	+	10	1259	c.687C>A	c.(685-687)ccC>ccA	p.P229P	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	229					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGGCTGGCCCCGCTCAGCCCT	0.672													5	79	---	---	---	---	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111633186	111633186	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:111633186C>A	ENST00000502935.1	-	16	1511		c.e16-1		XPNPEP1_ENST00000322238.8_Splice_Site|XPNPEP1_ENST00000369683.1_Splice_Site|XPNPEP1_ENST00000369680.4_Splice_Site			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble						bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGTGCCATCCCTTTCCAAAAA	0.458													5	113	---	---	---	---	0	0
LRRC27	80313	broad.mit.edu	37	10	134165144	134165144	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:134165144C>A	ENST00000392638.2	+	8	1250	c.1055C>A	c.(1054-1056)cCg>cAg	p.P352Q	LRRC27_ENST00000368612.1_Silent_p.P258P|LRRC27_ENST00000368615.3_Silent_p.P320P|LRRC27_ENST00000368613.4_Silent_p.P320P|LRRC27_ENST00000432555.2_Silent_p.P193P|LRRC27_ENST00000344079.5_Missense_Mutation_p.P352Q|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368610.3_Silent_p.P258P|LRRC27_ENST00000368614.3_Silent_p.P320P			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	0								p.P320P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCATCTTACCCGACCTCTTGT	0.502													9	244	---	---	---	---	0	0
ST5	6764	broad.mit.edu	37	11	8737329	8737329	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:8737329C>A	ENST00000534127.1	-	9	2051	c.1666G>T	c.(1666-1668)Ggg>Tgg	p.G556W	ST5_ENST00000530991.1_Missense_Mutation_p.G28W|ST5_ENST00000313726.6_Missense_Mutation_p.G556W|ST5_ENST00000526099.1_Missense_Mutation_p.G69W|ST5_ENST00000530438.1_Missense_Mutation_p.G136W|ST5_ENST00000526757.1_Missense_Mutation_p.G136W|ST5_ENST00000357665.1_Missense_Mutation_p.G556W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	556					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GACCAGTTCCCACTGCGCAGG	0.622													5	107	---	---	---	---	0	0
PDE3B	5140	broad.mit.edu	37	11	14808096	14808096	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:14808096G>T	ENST00000282096.4	+	3	1496	c.1143G>T	c.(1141-1143)cgG>cgT	p.R381R	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	381					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTCTCTACGGAGTATTAGTA	0.438													7	225	---	---	---	---	0	0
SLC1A2	6506	broad.mit.edu	37	11	35333904	35333904	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:35333904C>A	ENST00000278379.3	-	4	684	c.402G>T	c.(400-402)ctG>ctT	p.L134L	SLC1A2_ENST00000395750.1_Silent_p.L125L|SLC1A2_ENST00000606205.1_Silent_p.L134L|SLC1A2_ENST00000395753.1_Silent_p.L125L	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	134					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GAATGACCCCCAGTACTGCAG	0.547													7	163	---	---	---	---	0	0
OR5B21	219968	broad.mit.edu	37	11	58275576	58275576	+	Translation_Start_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:58275576C>A	ENST00000360374.2	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTATTCTCCATTGTGGCCA	0.413													4	39	---	---	---	---	0	0
CD6	923	broad.mit.edu	37	11	60785254	60785254	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:60785254C>A	ENST00000313421.7	+	11	1792	c.1606C>A	c.(1606-1608)Cac>Aac	p.H536N	CD6_ENST00000344028.5_Missense_Mutation_p.H504N|CD6_ENST00000352009.5_Missense_Mutation_p.H504N|CD6_ENST00000452451.2_Missense_Mutation_p.H495N|CD6_ENST00000346437.4_Missense_Mutation_p.H463N	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	536					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GCATGCCTCCCACATCCCAAC	0.542													6	116	---	---	---	---	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996946	62996946	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:62996946G>T	ENST00000306494.6	-	1	178	c.179C>A	c.(178-180)cCt>cAt	p.P60H	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	60					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTCATTGTCAGGGATAGTGTC	0.488													6	101	---	---	---	---	0	0
KAT5	10524	broad.mit.edu	37	11	65484372	65484372	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:65484372A>G	ENST00000341318.4	+	10	1417	c.1183A>G	c.(1183-1185)Acg>Gcg	p.T395A	KAT5_ENST00000377046.3_Missense_Mutation_p.T362A|KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	362					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GAAAGAATCAACGGAAGACTA	0.592													22	104	---	---	---	---	0	0
SF3B2	10992	broad.mit.edu	37	11	65820563	65820563	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:65820563C>A	ENST00000528302.1	+	3	300	c.246C>A	c.(244-246)ccC>ccA	p.P82P	SF3B2_ENST00000322535.6_Silent_p.P82P			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	82					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.P82P(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CTCCACCTCCCATGTCGGCAC	0.488													6	155	---	---	---	---	0	0
CCDC87	55231	broad.mit.edu	37	11	66358464	66358464	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:66358464G>T	ENST00000333861.3	-	1	2090	c.2023C>A	c.(2023-2025)Cac>Aac	p.H675N		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	675										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGAATTTTGTGGGGTTCTCCC	0.512													5	84	---	---	---	---	0	0
FOLR1	2348	broad.mit.edu	37	11	71903276	71903276	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:71903276G>T	ENST00000393679.1	+	2	495	c.59G>T	c.(58-60)gGg>gTg	p.G20V	FOLR1_ENST00000312293.4_Missense_Mutation_p.G20V|FOLR1_ENST00000393681.2_Missense_Mutation_p.G20V|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.G20V			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	20					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GCTGTAGTAGGGGAGGCTCAG	0.557													6	104	---	---	---	---	0	0
TRPC6	7225	broad.mit.edu	37	11	101362373	101362373	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:101362373C>A	ENST00000344327.3	-	3	1466	c.1042G>T	c.(1042-1044)Ggg>Tgg	p.G348W	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.G348W|TRPC6_ENST00000360497.4_Missense_Mutation_p.G348W	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	348					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.G348W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCAACATCCCCATTCAGAATG	0.428													5	104	---	---	---	---	0	0
MMP27	64066	broad.mit.edu	37	11	102563708	102563708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:102563708C>A	ENST00000260229.4	-	9	1349	c.1258G>T	c.(1258-1260)Gga>Tga	p.G420*		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	420	Hemopexin-like 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		ATACTGATTCCAGGAAAGTGT	0.428													6	206	---	---	---	---	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558382	106558382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:106558382C>A	ENST00000526355.2	-	8	2560	c.2092G>T	c.(2092-2094)Gag>Tag	p.E698*	GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.E719*|GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.E729*	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTCCTTACCTCCAGGAAATAG	0.448													7	191	---	---	---	---	0	0
DSCAML1	57453	broad.mit.edu	37	11	117301514	117301514	+	Silent	SNP	G	G	T	rs141667886		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:117301514G>T	ENST00000321322.6	-	32	5791	c.5790C>A	c.(5788-5790)acC>acA	p.T1930T	DSCAML1_ENST00000527706.1_Silent_p.T1660T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1870					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGTGAGGCGGTAAAGCGGC	0.612													5	215	---	---	---	---	0	0
BSX	390259	broad.mit.edu	37	11	122850125	122850125	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:122850125C>A	ENST00000343035.2	-	2	351	c.303G>T	c.(301-303)gcG>gcT	p.A101A		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	101										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCGGCAGCTCCGCGTGCTGCG	0.657													4	62	---	---	---	---	0	0
PATE2	399967	broad.mit.edu	37	11	125648648	125648648	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:125648648C>A	ENST00000358524.3	-	1	66	c.21G>T	c.(19-21)ctG>ctT	p.L7L	PATE2_ENST00000436890.2_Silent_p.L7L	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	7						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AGACTGTGCCCAGGAGAAAGA	0.517													5	74	---	---	---	---	0	0
CLSTN3	9746	broad.mit.edu	37	12	7293961	7293961	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:7293961C>A	ENST00000537408.1	+	8	2021	c.1483C>A	c.(1483-1485)Cga>Aga	p.R495R	CLSTN3_ENST00000266546.6_Silent_p.R483R			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	483					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCACCCACCCCGAAGGGAGCC	0.572											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	240	---	---	---	---	0	0
PRR4	11272	broad.mit.edu	37	12	10999752	10999752	+	Missense_Mutation	SNP	G	G	T	rs78191133		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:10999752G>T	ENST00000540107.1	-	3	179	c.142C>A	c.(142-144)Ccg>Acg	p.P48T	PRR4_ENST00000544994.1_Intron|PRR4_ENST00000228811.4_Silent_p.P105P|PRR4_ENST00000536668.1_5'UTR			Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	0	Pro-rich.				visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						AAGGAAATCGGGGTAGAGAGA	0.542													8	214	---	---	---	---	0	0
FAM60A	58516	broad.mit.edu	37	12	31435764	31435764	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:31435764C>A	ENST00000337682.4	-	6	916	c.548G>T	c.(547-549)gGg>gTg	p.G183V	FAM60A_ENST00000539409.1_Missense_Mutation_p.G35V|FAM60A_ENST00000454658.2_Missense_Mutation_p.G183V|FAM60A_ENST00000542983.1_Missense_Mutation_p.G35V|FAM60A_ENST00000395766.1_Missense_Mutation_p.G35V	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	183										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GAGGACTTCCCCAAAACGGCC	0.428													5	59	---	---	---	---	0	0
DIP2B	57609	broad.mit.edu	37	12	51054041	51054041	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:51054041C>A	ENST00000301180.5	+	4	400	c.366C>A	c.(364-366)ccC>ccA	p.P122P		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	122						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGCTTTGCCCATGCCAACCA	0.448													5	68	---	---	---	---	0	0
METTL7A	25840	broad.mit.edu	37	12	51318927	51318927	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:51318927T>C	ENST00000548553.1	+	2	1087	c.106T>C	c.(106-108)Ttc>Ctc	p.F36L	METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	36						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAAAAAATGGTTCCCCTACTT	0.488													17	68	---	---	---	---	0	0
GPR84	0	broad.mit.edu	37	12	54756831	54756831	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:54756831C>A	ENST00000551809.1	-	1	1440	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.G269W|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	269						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GATGAGTCCCCTTCCAGGGTC	0.547													7	208	---	---	---	---	0	0
LRIG3	121227	broad.mit.edu	37	12	59274658	59274658	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:59274658C>A	ENST00000320743.3	-	13	1792	c.1506G>T	c.(1504-1506)acG>acT	p.T502T	LRIG3_ENST00000379141.4_Silent_p.T442T	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	502	Ig-like C2-type 1.					integral to membrane		p.T502T(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGGCTGAACCGTGATCTGGG	0.423			T	ROS1	NSCLC								6	185	---	---	---	---	0	0
BEST3	144453	broad.mit.edu	37	12	70091546	70091546	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:70091546A>T	ENST00000330891.5	-	2	259	c.33T>A	c.(31-33)aaT>aaA	p.N11K	BEST3_ENST00000551160.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	11						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAAAGTTGCATTTGCTACTT	0.353													28	110	---	---	---	---	0	0
KCNC2	3747	broad.mit.edu	37	12	75601721	75601721	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:75601721C>A	ENST00000549446.1	-	2	723	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W	KCNC2_ENST00000548513.1_Missense_Mutation_p.G15W|KCNC2_ENST00000350228.2_Missense_Mutation_p.G15W|KCNC2_ENST00000298972.1_Missense_Mutation_p.G15W|KCNC2_ENST00000540018.1_Missense_Mutation_p.G15W|KCNC2_ENST00000341669.3_Missense_Mutation_p.G15W|KCNC2_ENST00000550433.1_Missense_Mutation_p.G15W|KCNC2_ENST00000393288.2_Missense_Mutation_p.G15W	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	15					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGGGTGCCCCCGACATTGAGG	0.592													5	76	---	---	---	---	0	0
DAO	1610	broad.mit.edu	37	12	109281269	109281269	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:109281269C>A	ENST00000228476.3	+	3	442	c.238C>A	c.(238-240)Cat>Aat	p.H80N	DAO_ENST00000551281.1_Missense_Mutation_p.H80N	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	80					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GAGCCATGTCCATTCTCCCAA	0.522													10	444	---	---	---	---	0	0
OASL	8638	broad.mit.edu	37	12	121471534	121471534	+	Missense_Mutation	SNP	C	C	A	rs146484691		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:121471534C>A	ENST00000257570.5	-	2	481	c.211G>T	c.(211-213)Ggg>Tgg	p.G71W	OASL_ENST00000339275.5_Missense_Mutation_p.G71W	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	71					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGCCATTCCCGAAGGAGCCC	0.592													4	111	---	---	---	---	0	0
ZMYM5	9205	broad.mit.edu	37	13	20426226	20426226	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:20426226C>A	ENST00000337963.4	-	3	359	c.95G>T	c.(94-96)gGg>gTg	p.G32V	ZMYM5_ENST00000382905.4_Missense_Mutation_p.G32V|ZMYM5_ENST00000382907.4_Missense_Mutation_p.G32V	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	32						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AAATGAATCCCCTATGTCCAT	0.413													8	237	---	---	---	---	0	0
DCLK1	9201	broad.mit.edu	37	13	36385036	36385036	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:36385036C>A	ENST00000255448.4	-	12	1835	c.1624G>T	c.(1624-1626)Ggc>Tgc	p.G542C	DCLK1_ENST00000379893.1_Missense_Mutation_p.G235C|DCLK1_ENST00000360631.3_Missense_Mutation_p.G542C	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	542	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TACAGGGGGCCGTCTACAATG	0.468													6	199	---	---	---	---	0	0
RB1	5925	broad.mit.edu	37	13	48881478	48881478	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:48881478C>A	ENST00000267163.4	+	2	338	c.200C>A	c.(199-201)cCa>cAa	p.P67Q		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	67					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTAAAGATACCAGATCATGTC	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			5	66	---	---	---	---	0	0
NEK5	341676	broad.mit.edu	37	13	52701573	52701573	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:52701573C>A	ENST00000355568.4	-	3	185	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	16	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TATGCTTTCCCGAAGGCACCT	0.378													6	214	---	---	---	---	0	0
OSGEP	55644	broad.mit.edu	37	14	20920516	20920516	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:20920516C>A	ENST00000206542.4	-	2	628	c.207G>T	c.(205-207)caG>caT	p.Q69H	OSGEP_ENST00000556252.1_5'UTR	NM_017807.3	NP_060277.1	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	69					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		AGTCGATATCCTGGGAGGTTA	0.498													8	172	---	---	---	---	0	0
REC8	9985	broad.mit.edu	37	14	24648040	24648040	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:24648040C>A	ENST00000311457.3	+	15	1717	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	REC8_ENST00000559919.1_Missense_Mutation_p.P373Q			O95072	REC8_HUMAN	REC8 meiotic recombination protein	374	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CAGCCACCCCCAAAAGCCCTC	0.582													8	358	---	---	---	---	0	0
RABGGTA	5875	broad.mit.edu	37	14	24734902	24734902	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:24734902C>A	ENST00000399409.3	-	16	2106	c.1623G>T	c.(1621-1623)caG>caT	p.Q541H	RABGGTA_ENST00000560777.1_Missense_Mutation_p.Q150H|RABGGTA_ENST00000216840.6_Missense_Mutation_p.Q541H	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	541					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCGGGTTACCCTGCAGGTTGA	0.622													4	21	---	---	---	---	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35564358	35564358	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:35564358C>A	ENST00000261475.5	-	10	1224	c.871G>T	c.(871-873)Ggc>Tgc	p.G291C		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	291	EF-hand 1.					centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CTGAGCATGCCATTGTGATCT	0.373													5	58	---	---	---	---	0	0
SEC23A	10484	broad.mit.edu	37	14	39543647	39543647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:39543647C>A	ENST00000537403.1	-	5	1671	c.469G>T	c.(469-471)Gag>Tag	p.E157*	SEC23A_ENST00000307712.6_Nonsense_Mutation_p.E359*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.E233*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.E330*			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	359					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CATTTCATCTCCAGGAGACCT	0.343													7	185	---	---	---	---	0	0
ZNF410	57862	broad.mit.edu	37	14	74364847	74364847	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:74364847C>A	ENST00000555044.1	+	5	656	c.462C>A	c.(460-462)tcC>tcA	p.S154S	ZNF410_ENST00000556797.1_Silent_p.S101S|ZNF410_ENST00000540593.1_Silent_p.S81S|ZNF410_ENST00000334521.4_Silent_p.S101S|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000324593.6_Silent_p.S154S|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Silent_p.S171S	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		ATTTCCTCTCCAGTGAGAGCA	0.468													6	141	---	---	---	---	0	0
ZC3H14	79882	broad.mit.edu	37	14	89039278	89039278	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:89039278C>A	ENST00000251038.5	+	6	1013	c.788C>A	c.(787-789)cCa>cAa	p.P263Q	ZC3H14_ENST00000556945.1_Missense_Mutation_p.P263Q|ZC3H14_ENST00000557607.1_Missense_Mutation_p.P108Q|ZC3H14_ENST00000555755.1_Missense_Mutation_p.P263Q|ZC3H14_ENST00000393514.5_Missense_Mutation_p.P263Q|ZC3H14_ENST00000359301.3_Missense_Mutation_p.P229Q|ZC3H14_ENST00000336693.4_Missense_Mutation_p.P229Q|ZC3H14_ENST00000302216.8_Missense_Mutation_p.P263Q	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	263						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTGTGTGAACCAGAGGTGCTT	0.398													5	92	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405768	105405768	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:105405768C>A	ENST00000333244.5	-	7	16139	c.16020G>T	c.(16018-16020)atG>atT	p.M5340I	AHNAK2_ENST00000557457.1_Missense_Mutation_p.M338I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5340						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTTATCCTCCATGCTGGCAA	0.463													4	34	---	---	---	---	0	0
TJP1	7082	broad.mit.edu	37	15	30092850	30092850	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:30092850C>A	ENST00000346128.6	-	2	557	c.83G>T	c.(82-84)aGg>aTg	p.R28M	TJP1_ENST00000545208.2_Splice_Site_p.R28M|TJP1_ENST00000400011.2_Splice_Site_p.R32M|TJP1_ENST00000495972.2_Splice_Site_p.R28M|TJP1_ENST00000356107.6_Splice_Site_p.R28M	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	28	PDZ 1.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CAAACTTACCCTGTGAAGCGT	0.398													5	84	---	---	---	---	0	0
BUB1B	701	broad.mit.edu	37	15	40457272	40457272	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:40457272G>T	ENST00000287598.6	+	2	249	c.54G>T	c.(52-54)gaG>gaT	p.E18D	BUB1B_ENST00000412359.3_Missense_Mutation_p.E18D|BUB1B_ENST00000560120.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGTCCCTGGAGGGAGATGAAT	0.428			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				5	73	---	---	---	---	0	0
RPAP1	26015	broad.mit.edu	37	15	41829206	41829206	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:41829206C>A	ENST00000304330.4	-	2	234	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	RPAP1_ENST00000561603.1_Missense_Mutation_p.G40C	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	40						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCATCACCACCGCCCCTATTT	0.587													5	219	---	---	---	---	0	0
DMXL2	23312	broad.mit.edu	37	15	51837907	51837907	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:51837907C>A	ENST00000251076.5	-	8	1090	c.803G>T	c.(802-804)tGg>tTg	p.W268L	DMXL2_ENST00000449909.3_Missense_Mutation_p.W268L|DMXL2_ENST00000543779.2_Missense_Mutation_p.W268L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	268						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGTTTCTGCCCAGAGCCGGCA	0.418													7	198	---	---	---	---	0	0
HERC1	8925	broad.mit.edu	37	15	64048723	64048723	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:64048723C>A	ENST00000443617.2	-	5	1533	c.1446G>T	c.(1444-1446)tgG>tgT	p.W482C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	482					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACCATCTCCCCAACTGAAGA	0.418													7	93	---	---	---	---	0	0
SLC28A1	9154	broad.mit.edu	37	15	85476419	85476419	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:85476419C>A	ENST00000394573.1	+	13	1329	c.1127C>A	c.(1126-1128)cCt>cAt	p.P376H	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.P376H|SLC28A1_ENST00000537216.1_Missense_Mutation_p.P376H|SLC28A1_ENST00000537624.1_Missense_Mutation_p.P376H	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	376					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGGCTGCCCCTTGTGCCTTG	0.562													8	187	---	---	---	---	0	0
LRRK1	79705	broad.mit.edu	37	15	101606927	101606927	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:101606927C>A	ENST00000284395.5	+	34	6242	c.5842C>A	c.(5842-5844)Cga>Aga	p.R1948R	LRRK1_ENST00000388948.3_Silent_p.R1951R|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1951					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTAAAAGCCCGAGAGCTGAC	0.592													6	178	---	---	---	---	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1718167	1718167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:1718167G>T	ENST00000397412.3	+	18	3406	c.3307G>T	c.(3307-3309)Gag>Tag	p.E1103*	CRAMP1L_ENST00000436138.3_Nonsense_Mutation_p.E1100*|CRAMP1L_ENST00000293925.5_Nonsense_Mutation_p.E1103*|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Nonsense_Mutation_p.E481*			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1103	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTCCATCATTGAGATCGCCAT	0.597													7	100	---	---	---	---	0	0
UBN1	29855	broad.mit.edu	37	16	4927413	4927413	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:4927413C>A	ENST00000396658.4	+	16	3996	c.3293C>A	c.(3292-3294)cCg>cAg	p.P1098Q	UBN1_ENST00000590769.1_Intron|UBN1_ENST00000262376.6_Missense_Mutation_p.P1098Q|UBN1_ENST00000545171.1_Intron	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1098					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CACTCCAGCCCGCCCCATGCA	0.592													8	322	---	---	---	---	0	0
ABCC11	85320	broad.mit.edu	37	16	48226509	48226509	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:48226509C>A	ENST00000394747.1	-	19	2977	c.2628G>T	c.(2626-2628)gtG>gtT	p.V876V	ABCC11_ENST00000353782.5_Silent_p.V876V|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Silent_p.V876V|ABCC11_ENST00000356608.2_Silent_p.V876V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	876	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGCAGACCCCCACACAGATGA	0.572													5	76	---	---	---	---	0	0
MMP2	0	broad.mit.edu	37	16	55532277	55532277	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:55532277C>A	ENST00000219070.4	+	11	2195	c.1686C>A	c.(1684-1686)ccC>ccA	p.P562P	MMP2_ENST00000543485.1_Silent_p.P486P|MMP2_ENST00000437642.2_Silent_p.P512P|MMP2_ENST00000570308.1_Silent_p.P486P	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	562	Hemopexin-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGGGACTGCCCCCTGATGTCC	0.557													6	101	---	---	---	---	0	0
CES1	1066	broad.mit.edu	37	16	55844565	55844565	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:55844565C>A	ENST00000422046.2	-	11	1457	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	CES1_ENST00000361503.4_Missense_Mutation_p.K393N|CES1_ENST00000360526.3_Missense_Mutation_p.K394N			P23141	EST1_HUMAN	carboxylesterase 1	393					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GAATCAGTTCCTTAGCAATGC	0.483													8	196	---	---	---	---	0	0
CDH5	1003	broad.mit.edu	37	16	66436961	66436961	+	Silent	SNP	C	C	A	rs151016157		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:66436961C>A	ENST00000341529.3	+	12	2392	c.2244C>A	c.(2242-2244)acC>acA	p.T748T	CDH5_ENST00000539168.1_Silent_p.T187T	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	748	Ser-rich.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCCTGGGCACCGACTCATCCG	0.642													4	31	---	---	---	---	0	0
KCTD19	146212	broad.mit.edu	37	16	67327680	67327680	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:67327680G>T	ENST00000304372.5	-	12	2040	c.1985C>A	c.(1984-1986)cCc>cAc	p.P662H		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	662						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTCCTCCAAGGGGCTGCTCCG	0.592													7	144	---	---	---	---	0	0
RLTPR	146206	broad.mit.edu	37	16	67680686	67680686	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:67680686G>T	ENST00000334583.6	+	7	864	c.536G>T	c.(535-537)tGg>tTg	p.W179L	RLTPR_ENST00000545661.1_Splice_Site_p.W179L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	179										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GAGATTCAGTGGGTGAGGGTA	0.587													6	138	---	---	---	---	0	0
AARS	16	broad.mit.edu	37	16	70287895	70287895	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:70287895C>A	ENST00000261772.8	-	18	2590	c.2447G>T	c.(2446-2448)cGg>cTg	p.R816L		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	816					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GAGAGTCTCCCGCAATTCATC	0.557											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	157	---	---	---	---	0	0
ATP2C2	9914	broad.mit.edu	37	16	84473064	84473064	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:84473064G>T	ENST00000416219.2	+	13	1232	c.1143G>T	c.(1141-1143)acG>acT	p.T381T	ATP2C2_ENST00000262429.4_Silent_p.T381T|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	381					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGACAAGACGGGGACTCTGA	0.502													6	182	---	---	---	---	0	0
TCF25	22980	broad.mit.edu	37	16	89965053	89965053	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:89965053C>A	ENST00000263346.8	+	10	1167	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	TCF25_ENST00000263347.7_Missense_Mutation_p.L136M	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	371					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAAGCTCATCCTGAGGTGAGT	0.617													5	69	---	---	---	---	0	0
MNT	4335	broad.mit.edu	37	17	2290904	2290904	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:2290904C>A	ENST00000174618.4	-	6	1445	c.1040G>T	c.(1039-1041)cGg>cTg	p.R347L	MNT_ENST00000575374.1_5'UTR	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	347					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CAGGCCCGCCCGGTCCTCCTC	0.672													7	289	---	---	---	---	0	0
ZNF232	7775	broad.mit.edu	37	17	5009563	5009563	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:5009563G>T	ENST00000250076.3	-	5	1545	c.891C>A	c.(889-891)ccC>ccA	p.P297P	ZNF232_ENST00000575898.1_Silent_p.P288P|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	270					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCTTCCCTGTGGGAATTTCCT	0.458													5	91	---	---	---	---	0	0
KIAA0753	9851	broad.mit.edu	37	17	6513403	6513403	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:6513403G>T	ENST00000361413.3	-	9	1981	c.1623C>A	c.(1621-1623)tcC>tcA	p.S541S	KIAA0753_ENST00000542606.1_Silent_p.S242S|KIAA0753_ENST00000589033.1_5'UTR|KIAA0753_ENST00000572370.1_Silent_p.S242S	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	541						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTTTTAATCTGGATGAAACTG	0.473													5	104	---	---	---	---	0	0
GPS2	2874	broad.mit.edu	37	17	7217275	7217275	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:7217275G>C	ENST00000380728.2	-	6	730	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.L144V|GPS2_ENST00000389167.5_Missense_Mutation_p.L144V			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	144					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCTGCCATGAGGGTGCCTGGG	0.547													35	90	---	---	---	---	0	0
POLR2A	5430	broad.mit.edu	37	17	7399794	7399794	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:7399794C>A	ENST00000322644.6	+	4	798	c.399C>A	c.(397-399)tcC>tcA	p.S133S	POLR2A_ENST00000572844.1_Silent_p.S133S	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	133					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGGCTAAGTCCAAGGGACAGC	0.567													8	137	---	---	---	---	0	0
DNAH2	146754	broad.mit.edu	37	17	7700502	7700502	+	Missense_Mutation	SNP	G	G	T	rs147908045	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:7700502G>T	ENST00000572933.1	+	51	9332	c.7872G>T	c.(7870-7872)caG>caT	p.Q2624H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2624H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2624	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGTGTTCCAGGGCATGCTTA	0.478													7	149	---	---	---	---	0	0
MYH10	4628	broad.mit.edu	37	17	8379196	8379196	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:8379196G>T	ENST00000360416.3	-	43	6088	c.5950C>A	c.(5950-5952)Ctg>Atg	p.L1984M	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.L1969M|MYH10_ENST00000396239.1_Missense_Mutation_p.L1974M|MYH10_ENST00000269243.4_Missense_Mutation_p.L1953M	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1953					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GAGAGCTCCAGGGAAGCTCCT	0.582													7	156	---	---	---	---	0	0
GLP2R	9340	broad.mit.edu	37	17	9739702	9739702	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:9739702G>T	ENST00000262441.5	+	3	805	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	98					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G98W(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ATTTTGTAACGGGACATTTGA	0.483													6	199	---	---	---	---	0	0
SMCR8	140775	broad.mit.edu	37	17	18220835	18220835	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:18220835C>A	ENST00000406438.3	+	1	2212	c.1732C>A	c.(1732-1734)Cca>Aca	p.P578T		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	578										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGAAAACACCCCATCACAAAT	0.537													7	137	---	---	---	---	0	0
PROCA1	147011	broad.mit.edu	37	17	27031418	27031418	+	Missense_Mutation	SNP	C	C	A	rs143668972		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:27031418C>A	ENST00000301039.2	-	3	456	c.263G>T	c.(262-264)cGg>cTg	p.R88L	PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.R90L|PROCA1_ENST00000581289.1_Intron	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	116					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GCCCGCGCCCCGGGAGCTGCT	0.627													6	202	---	---	---	---	0	0
FNDC8	54752	broad.mit.edu	37	17	33454224	33454224	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:33454224C>A	ENST00000158009.5	+	2	488	c.373C>A	c.(373-375)Cca>Aca	p.P125T		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	125										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CAGCTTCTCCCCAATGGCCAA	0.572													7	210	---	---	---	---	0	0
GPR179	440435	broad.mit.edu	37	17	36485797	36485797	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:36485797G>T	ENST00000342292.4	-	11	3675	c.3655C>A	c.(3655-3657)Cct>Act	p.P1219T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1219						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CACCCGACAGGGGTTTCTTTT	0.567													7	224	---	---	---	---	0	0
MED1	5469	broad.mit.edu	37	17	37565755	37565755	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:37565755C>A	ENST00000300651.6	-	17	2942	c.2719G>T	c.(2719-2721)Ggg>Tgg	p.G907W	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	907	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATTGGCACCCCCAAAGTATTT	0.428										HNSCC(31;0.082)			8	230	---	---	---	---	0	0
CDK12	51755	broad.mit.edu	37	17	37686906	37686906	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:37686906C>A	ENST00000447079.4	+	14	3843	c.3810C>A	c.(3808-3810)ccC>ccA	p.P1270P	CDK12_ENST00000430627.2_Silent_p.P1261P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1270	Poly-Pro.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTGAGCCCCCCGGACCTCCAC	0.577			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			7	308	---	---	---	---	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38345151	38345151	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:38345151G>T	ENST00000436615.3	+	5	739	c.249G>T	c.(247-249)caG>caT	p.Q83H	RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.Q138H|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.Q132H|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.Q83H	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	289	Gly-rich.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCAGCAAGCAGGTGAAGCCAC	0.612													5	83	---	---	---	---	0	0
HSPB9	94086	broad.mit.edu	37	17	40275108	40275108	+	Silent	SNP	C	C	A	rs150293597	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:40275108C>A	ENST00000355067.3	+	1	353	c.240C>A	c.(238-240)acC>acA	p.T80T	CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	80					response to stress	cytoplasm|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TGATGGTGACCGGACAGCAGC	0.592													6	128	---	---	---	---	0	0
AOC2	314	broad.mit.edu	37	17	40997529	40997529	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:40997529C>A	ENST00000253799.3	+	1	913	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	AOC2_ENST00000452774.2_Missense_Mutation_p.L296M	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	296					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGCTTCATCCCTGAGGTCTCG	0.557													6	105	---	---	---	---	0	0
TMEM92	162461	broad.mit.edu	37	17	48356601	48356601	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:48356601C>A	ENST00000300433.3	+	6	522	c.412C>A	c.(412-414)Cct>Act	p.P138T	TMEM92_ENST00000507382.1_Missense_Mutation_p.P138T	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	138	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						AGAGCCACCCCCTCCCTACAG	0.592													8	237	---	---	---	---	0	0
VEZF1	7716	broad.mit.edu	37	17	56060629	56060629	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:56060629C>A	ENST00000584396.1	-	2	220	c.132G>T	c.(130-132)caG>caT	p.Q44H	VEZF1_ENST00000581208.1_Missense_Mutation_p.Q53H			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	53					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTGGTGCACCCTGAGGTTTCT	0.473													8	183	---	---	---	---	0	0
ABCA9	10350	broad.mit.edu	37	17	66972095	66972095	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:66972095G>T	ENST00000340001.4	-	39	5047	c.4836C>A	c.(4834-4836)ccC>ccA	p.P1612P	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.P1574P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1612					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ACTTCACCGAGGGATCAAAGT	0.413													5	41	---	---	---	---	0	0
ACOX1	51	broad.mit.edu	37	17	73975129	73975129	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:73975129C>A	ENST00000293217.5	-	1	315	c.26G>T	c.(25-27)cGg>cTg	p.R9L	ACOX1_ENST00000537812.1_5'UTR|ACOX1_ENST00000301608.4_Missense_Mutation_p.R9L|ACOX1_ENST00000591857.1_5'UTR	NM_004035.6	NP_004026.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	9					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	p.R9L(2)		large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						GGCGGAATCCCGCTCCCTGCG	0.662													4	85	---	---	---	---	0	0
GATA6	2627	broad.mit.edu	37	18	19780663	19780663	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:19780663C>A	ENST00000269216.3	+	7	1942	c.1665C>A	c.(1663-1665)ccC>ccA	p.P555P	GATA6_ENST00000581694.1_Silent_p.P555P|RP11-627G18.1_ENST00000583442.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	555					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCACCAATCCCGAGAACAGCG	0.607													5	132	---	---	---	---	0	0
DSG2	1829	broad.mit.edu	37	18	29126129	29126129	+	Missense_Mutation	SNP	C	C	A	rs146402368	by1000genomes	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:29126129C>A	ENST00000261590.8	+	15	2989	c.2780C>A	c.(2779-2781)cCa>cAa	p.P927Q	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	927					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTTCCTGACCCAATGGCTTCT	0.483													6	159	---	---	---	---	0	0
C18orf25	147339	broad.mit.edu	37	18	43820011	43820011	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:43820011C>A	ENST00000282059.6	+	3	1130	c.756C>A	c.(754-756)acC>acA	p.T252T	C18orf25_ENST00000321319.6_Intron	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	252										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGTCTGACACCAACTCTGACC	0.443													6	138	---	---	---	---	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241887	60241887	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:60241887C>A	ENST00000269499.5	+	13	2991	c.2573C>A	c.(2572-2574)cCa>cAa	p.P858Q	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P537Q	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	858					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGTAGTTTCCCAGGCTCTCCT	0.502													5	90	---	---	---	---	0	0
DUS3L	56931	broad.mit.edu	37	19	5790299	5790299	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:5790299C>A	ENST00000309061.7	-	2	242	c.146G>T	c.(145-147)gGg>gTg	p.G49V	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	49					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTTCTCCTGCCCTTTGGCTTC	0.547													11	64	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9082881	9082881	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:9082881G>T	ENST00000397910.4	-	1	9137	c.8934C>A	c.(8932-8934)ccC>ccA	p.P2978P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2979	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCTGAAGTGGGGACTCTGG	0.502													6	157	---	---	---	---	0	0
OR7D4	125958	broad.mit.edu	37	19	9324896	9324896	+	Silent	SNP	C	C	A	rs150001713		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:9324896C>A	ENST00000308682.2	-	1	646	c.618G>T	c.(616-618)ctG>ctT	p.L206L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GAAACACACCCAGCAGTGCCG	0.507													6	117	---	---	---	---	0	0
ICAM5	7087	broad.mit.edu	37	19	10404518	10404518	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:10404518A>C	ENST00000221980.4	+	7	1673	c.1610A>C	c.(1609-1611)gAg>gCg	p.E537A		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	537	Ig-like C2-type 6.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCCGTCATCGAGGGGCTGTTG	0.662													21	93	---	---	---	---	0	0
ZNF440	126070	broad.mit.edu	37	19	11942943	11942943	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:11942943G>T	ENST00000304060.5	+	4	1116	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAAGCAGTGTGGGAAAGCATT	0.383													5	75	---	---	---	---	0	0
ZNF442	79973	broad.mit.edu	37	19	12461101	12461101	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:12461101T>C	ENST00000242804.4	-	6	1880	c.1298A>G	c.(1297-1299)tAt>tGt	p.Y433C	ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACATTCATAGGGTTTCTC	0.413													4	87	---	---	---	---	0	0
CACNA1A	773	broad.mit.edu	37	19	13414690	13414690	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:13414690C>A	ENST00000360228.5	-	16	1994	c.1995G>T	c.(1993-1995)acG>acT	p.T665T	CACNA1A_ENST00000573710.2_Silent_p.T666T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	666					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.T666T(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGTCTTCGCCCGTCAGGATCT	0.597													6	154	---	---	---	---	0	0
IL27RA	9466	broad.mit.edu	37	19	14157009	14157009	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:14157009G>T	ENST00000263379.2	+	7	937	c.812G>T	c.(811-813)tGg>tTg	p.W271L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	271					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GTCTGGTTCTGGGTTGGAGGT	0.552													7	273	---	---	---	---	0	0
TECR	9524	broad.mit.edu	37	19	14674848	14674848	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:14674848C>A	ENST00000436007.2	+	7	491	c.367C>A	c.(367-369)Cga>Aga	p.R123R	TECR_ENST00000215567.5_Silent_p.R108R|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	108					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CTTCTACTTCCGAGTGCCCTT	0.557													6	286	---	---	---	---	0	0
OR10H4	126541	broad.mit.edu	37	19	16060285	16060285	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:16060285G>T	ENST00000322107.1	+	1	468	c.468G>T	c.(466-468)atG>atT	p.M156I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M156I(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTCAGTCATGGGGATGATGG	0.522													6	131	---	---	---	---	0	0
ANO8	57719	broad.mit.edu	37	19	17441791	17441791	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:17441791C>A	ENST00000159087.4	-	8	997	c.839G>T	c.(838-840)cGg>cTg	p.R280L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	280						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGAAACATCCCGGCTTGTCTG	0.572													6	173	---	---	---	---	0	0
UPF1	5976	broad.mit.edu	37	19	18976574	18976574	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:18976574C>A	ENST00000262803.5	+	22	3496	c.3224C>A	c.(3223-3225)cCg>cAg	p.P1075Q	UPF1_ENST00000599848.1_Missense_Mutation_p.P1086Q	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1086	Gln/Ser-rich.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTCTCCCAGCCGGAGCTGTCC	0.647													4	86	---	---	---	---	0	0
CILP2	148113	broad.mit.edu	37	19	19654493	19654493	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:19654493C>A	ENST00000586018.1	+	8	1259	c.1157C>A	c.(1156-1158)cCa>cAa	p.P386Q	CILP2_ENST00000291495.5_Missense_Mutation_p.P380Q			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	380						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TCCCCAGCCCCAGGCCAGCCA	0.632													9	347	---	---	---	---	0	0
ATP4A	495	broad.mit.edu	37	19	36046700	36046700	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:36046700C>A	ENST00000262623.3	-	13	1912	c.1884G>T	c.(1882-1884)acG>acT	p.T628T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	628					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGTGGTCACCCGTTACCATGA	0.602													5	216	---	---	---	---	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278629	36278629	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:36278629C>A	ENST00000007510.4	+	21	3306	c.3162C>A	c.(3160-3162)ccC>ccA	p.P1054P	ARHGAP33_ENST00000378944.5_Silent_p.P890P|ARHGAP33_ENST00000314737.5_Silent_p.P893P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1054					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCTTGTACCCCCTGGGCCCCC	0.667													5	57	---	---	---	---	0	0
SPRED3	399473	broad.mit.edu	37	19	38882639	38882639	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:38882639C>A	ENST00000587013.1	+	2	441	c.363C>A	c.(361-363)ccC>ccA	p.P121P	SPRED3_ENST00000586301.1_Silent_p.P77P|SPRED3_ENST00000338502.4_Silent_p.P77P|SPRED3_ENST00000587564.2_3'UTR			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	77	Ser-rich.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGTGAATCCCATCTTTCACC	0.547													7	139	---	---	---	---	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41778018	41778018	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:41778018C>A	ENST00000392006.3	+	3	623	c.450C>A	c.(448-450)ccC>ccA	p.P150P	HNRNPUL1_ENST00000593587.1_Silent_p.P50P|HNRNPUL1_ENST00000263367.3_Silent_p.P61P|HNRNPUL1_ENST00000602130.1_Silent_p.P150P|HNRNPUL1_ENST00000378215.4_Silent_p.P107P|HNRNPUL1_ENST00000352456.3_Silent_p.P50P|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000595018.1_Silent_p.P50P	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	150					nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AAGGAGCACCCACCAGCTTCC	0.507													7	132	---	---	---	---	0	0
CEACAM3	1084	broad.mit.edu	37	19	42314040	42314040	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:42314040C>A	ENST00000357396.3	+	4	821	c.580C>A	c.(580-582)Caa>Aaa	p.Q194K	CEACAM3_ENST00000221999.4_Intron|CEACAM3_ENST00000344550.4_Intron	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	194						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GCAGCAGCCCCAAGCCCTTGC	0.597													8	253	---	---	---	---	0	0
MEGF8	1954	broad.mit.edu	37	19	42858806	42858806	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:42858806C>A	ENST00000334370.4	+	22	4512	c.3877C>A	c.(3877-3879)Cgc>Agc	p.R1293S	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1360S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1360	CUB 2.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCAGTCGGACCGCAGCCTCAT	0.602													8	288	---	---	---	---	0	0
CA11	770	broad.mit.edu	37	19	49143086	49143086	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:49143086G>T	ENST00000084798.4	-	5	1205	c.526C>A	c.(526-528)Cgc>Agc	p.R176S	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	176						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		TTGGGGCCGCGGGAGGCAGCG	0.622													5	95	---	---	---	---	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49379177	49379177	+	Missense_Mutation	SNP	C	C	A	rs35007147	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:49379177C>A	ENST00000200453.5	+	3	2241	c.1972C>A	c.(1972-1974)Cgc>Agc	p.R658S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	658					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CACACCTTCCCGCTCGTCTGC	0.572													5	99	---	---	---	---	0	0
NCR1	9437	broad.mit.edu	37	19	55423580	55423580	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:55423580C>A	ENST00000594765.1	+	6	749	c.724C>A	c.(724-726)Cag>Aag	p.Q242K	NCR1_ENST00000598576.1_Missense_Mutation_p.Q230K|NCR1_ENST00000357397.5_Missense_Mutation_p.Q136K|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.Q242K|NCR1_ENST00000350790.5_Missense_Mutation_p.Q148K|NCR1_ENST00000291890.4_Missense_Mutation_p.Q243K			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	243					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GACGGGACTCCAGAAAGGTAA	0.517													5	101	---	---	---	---	0	0
ZNF835	90485	broad.mit.edu	37	19	57174975	57174975	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:57174975G>T	ENST00000537055.2	-	2	1823	c.1592C>A	c.(1591-1593)cCg>cAg	p.P531Q		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGTCCACGCGGGTTTCTGCC	0.577													4	79	---	---	---	---	0	0
MCM8	84515	broad.mit.edu	37	20	5965430	5965430	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:5965430G>T	ENST00000378896.3	+	15	2114	c.1737G>T	c.(1735-1737)atG>atT	p.M579I	MCM8_ENST00000378883.1_Missense_Mutation_p.M532I|MCM8_ENST00000378886.2_Missense_Mutation_p.M619I|MCM8_ENST00000265187.4_Missense_Mutation_p.M563I	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	579	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTCATAGAATGGGGAGTGCAC	0.358													5	72	---	---	---	---	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162929	42162929	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:42162929C>A	ENST00000444063.1	+	12	1467	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P	L3MBTL1_ENST00000427442.2_Silent_p.P513P|L3MBTL1_ENST00000373134.1_Silent_p.P445P|L3MBTL1_ENST00000373135.3_Silent_p.P445P|L3MBTL1_ENST00000418998.1_Silent_p.P513P			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	445					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGCAGCGACCCCCTCACAGCT	0.637													5	53	---	---	---	---	0	0
TAF4	6874	broad.mit.edu	37	20	60575644	60575644	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:60575644G>T	ENST00000252996.4	-	10	2619	c.2620C>A	c.(2620-2622)Ctc>Atc	p.L874I		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGCGCTTGGAGGAGGAAGGTT	0.463													5	85	---	---	---	---	0	0
BACE2	25825	broad.mit.edu	37	21	42598245	42598245	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr21:42598245C>A	ENST00000347667.5	+	2	828	c.365C>A	c.(364-366)cCg>cAg	p.P122Q	BACE2_ENST00000328735.6_Missense_Mutation_p.P122Q|BACE2_ENST00000330333.6_Missense_Mutation_p.P122Q	NM_138991.1	NP_620476.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GCAGGAACCCCGCACTCCTAC	0.463													5	93	---	---	---	---	0	0
IGLV3-10	0	broad.mit.edu	37	22	23154528	23154528	+	RNA	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:23154528C>A	ENST00000390315.2	+	0	132																											GTCAGTGTCCCCAGGACAAAC	0.547													6	111	---	---	---	---	0	0
LIF	3976	broad.mit.edu	37	22	30639684	30639684	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:30639684C>A	ENST00000249075.3	-	3	720	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	189					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			TTATACTTCCCCAGGAGTTGA	0.567													6	108	---	---	---	---	0	0
NAGA	4668	broad.mit.edu	37	22	42459019	42459019	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:42459019C>A	ENST00000396398.3	-	7	1301	c.769G>T	c.(769-771)Ggg>Tgg	p.G257W	NAGA_ENST00000403363.1_Missense_Mutation_p.G257W|NAGA_ENST00000402937.1_Missense_Mutation_p.G257W	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	257					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CCAAAGTTCCCAATGAGCAGC	0.577													4	29	---	---	---	---	0	0
RIBC2	26150	broad.mit.edu	37	22	45813805	45813805	+	Missense_Mutation	SNP	C	C	A	rs137932273		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:45813805C>A	ENST00000342894.3	+	3	730	c.316C>A	c.(316-318)Cgt>Agt	p.R106S	RIBC2_ENST00000538017.1_Missense_Mutation_p.R174S			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	106										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAAGAACGCCCGTGCTGAACA	0.418													3	23	---	---	---	---	0	0
STAG2	10735	broad.mit.edu	37	X	123200045	123200045	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:123200045G>T	ENST00000371160.1	+	22	2407	c.2117G>T	c.(2116-2118)tGg>tTg	p.W706L	STAG2_ENST00000371145.3_Missense_Mutation_p.W706L|STAG2_ENST00000371144.3_Missense_Mutation_p.W706L|STAG2_ENST00000371157.3_Missense_Mutation_p.W706L|STAG2_ENST00000218089.9_Missense_Mutation_p.W706L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.W637L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	706				W -> R (in Ref. 5; CAA99732).	cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTTTCAAAGTGGGATTTATTT	0.284													4	53	---	---	---	---	0	0
PDZD4	57595	broad.mit.edu	37	X	153073955	153073955	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:153073955G>A	ENST00000164640.4	-	2	347	c.156C>T	c.(154-156)cgC>cgT	p.R52R	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	52						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGGGGGCTGCGTCTCAGCA	0.642													5	7	---	---	---	---	0	0
MECP2	4204	broad.mit.edu	37	X	153296742	153296742	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:153296742G>T	ENST00000303391.6	-	4	786	c.537C>A	c.(535-537)ccC>ccA	p.P179P	MECP2_ENST00000407218.1_Intron|MECP2_ENST00000453960.2_Silent_p.P191P	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	179					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGCTTTGGGAGATTTGG	0.612													5	77	---	---	---	---	0	0
F8	2157	broad.mit.edu	37	X	154158637	154158637	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:154158637G>T	ENST00000360256.4	-	14	3628	c.3428C>A	c.(3427-3429)cCc>cAc	p.P1143H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1143	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTTTGGACTGGGGCCTTGCCC	0.413													5	66	---	---	---	---	0	0
MFN2	9927	broad.mit.edu	37	1	12058937	12058937	+	Splice_Site	SNP	T	T	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:12058937T>A	ENST00000235329.5	+	7	1030		c.e7+2		MFN2_ENST00000444836.1_Splice_Site	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2						blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.?(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATGCAGACGGTAACTCCTCCT	0.577													14	120	---	---	---	---	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507397	74507397	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:74507397C>A	ENST00000354431.4	-	7	1409	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E406D	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	406								p.E406D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTGCAAAAAACTCTTTCATAC	0.343													15	74	---	---	---	---	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022538	161022538	+	Silent	SNP	T	T	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:161022538T>C	ENST00000368013.3	-	7	1034	c.714A>G	c.(712-714)tcA>tcG	p.S238S	ARHGAP30_ENST00000368016.3_Silent_p.S238S|ARHGAP30_ENST00000368015.1_Silent_p.S61S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	238					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S238S(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGGGGCTGCCTGATGCCCGGG	0.607													3	63	---	---	---	---	0	0
SCN7A	6332	broad.mit.edu	37	2	167262810	167262810	+	Silent	SNP	A	A	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:167262810A>T	ENST00000409855.1	-	25	4455	c.4329T>A	c.(4327-4329)atT>atA	p.I1443I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1443					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I1443I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TACTGTTGAAAATTGCATCAA	0.383													32	132	---	---	---	---	0	0
CLASP2	23122	broad.mit.edu	37	3	33602330	33602330	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr3:33602330G>C	ENST00000399362.4	-	28	3274	c.2921C>G	c.(2920-2922)gCa>gGa	p.A974G	CLASP2_ENST00000468888.2_Missense_Mutation_p.A975G|CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	976								p.A967G(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGAACTTTTGCCTGAACAGA	0.338													31	177	---	---	---	---	0	0
EPHA3	2042	broad.mit.edu	37	3	89391103	89391103	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr3:89391103C>A	ENST00000336596.2	+	5	1394	c.1169C>A	c.(1168-1170)aCc>aAc	p.T390N	EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N|EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	390	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.T390N(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTTGGACTCACCAACACCACG	0.478										TSP Lung(6;0.00050)			4	71	---	---	---	---	0	0
ADAM29	11086	broad.mit.edu	37	4	175897858	175897858	+	Silent	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:175897858C>T	ENST00000359240.3	+	5	1852	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	ADAM29_ENST00000514159.1_Silent_p.I394I|ADAM29_ENST00000404450.4_Silent_p.I394I|ADAM29_ENST00000445694.1_Silent_p.I394I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	394					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.I394I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAAAGGACATCTTTAATGTGA	0.393													28	129	---	---	---	---	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146017843	146017843	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr5:146017843G>A	ENST00000394413.3	-	6	1331	c.761C>T	c.(760-762)gCa>gTa	p.A254V	PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	254					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.A257V(1)|p.A312V(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGGCAGATGCCCGCATGTC	0.597													8	68	---	---	---	---	0	0
MOXD1	26002	broad.mit.edu	37	6	132641814	132641814	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:132641814A>G	ENST00000367963.3	-	9	1437	c.1319T>C	c.(1318-1320)aTt>aCt	p.I440T	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	440					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.I440T(1)|p.I372T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ACACTCAGTAATTAGGTTATC	0.308													6	24	---	---	---	---	0	0
MLLT4	4301	broad.mit.edu	37	6	168297653	168297653	+	Splice_Site	SNP	G	G	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:168297653G>T	ENST00000366806.2	+	10	1459		c.e10+1		MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.?(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCTATCCAGGTACGTAGTCT	0.433			T	MLL	AL								5	22	---	---	---	---	0	0
TRGV8	0	broad.mit.edu	37	7	38370456	38370456	+	RNA	SNP	C	C	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:38370456C>A	ENST00000390343.2	-	0	80																											AGTAAGGGACCAGACGAAGAG	0.527													3	59	---	---	---	---	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664546	151664546	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:151664546G>A	ENST00000392800.2	+	2	469	c.215G>A	c.(214-216)aGg>aAg	p.R72K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	72						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.R72K(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATAGTCAAAAGGACTGATGAA	0.373													4	41	---	---	---	---	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664547	151664547	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:151664547G>C	ENST00000392800.2	+	2	470	c.216G>C	c.(214-216)agG>agC	p.R72S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	72						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.R72S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TAGTCAAAAGGACTGATGAAG	0.373													4	39	---	---	---	---	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690474	77690474	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr8:77690474C>T	ENST00000521891.2	+	4	3572	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1042S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCAGTGAATCCCGAATCCTG	0.483										HNSCC(33;0.089)			25	99	---	---	---	---	0	0
SLC37A4	2542	broad.mit.edu	37	11	118900037	118900037	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr11:118900037A>C	ENST00000545985.1	-	3	799	c.43T>G	c.(43-45)Tca>Gca	p.S15A	SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	15					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	p.S15A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AACATGGCTGAGAAGATCACA	0.517													4	24	---	---	---	---	0	0
APPL2	55198	broad.mit.edu	37	12	105571030	105571030	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr12:105571030G>A	ENST00000258530.3	-	18	1870	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S	APPL2_ENST00000539978.2_Missense_Mutation_p.P506S|APPL2_ENST00000551662.1_Missense_Mutation_p.P555S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	549	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	p.P549S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGAGTCTGTGGATCTATCAAC	0.328													7	52	---	---	---	---	0	0
LRRC49	54839	broad.mit.edu	37	15	71329574	71329574	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:71329574A>G	ENST00000260382.5	+	15	2020	c.1760A>G	c.(1759-1761)aAc>aGc	p.N587S	LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	587						cytoplasm|microtubule		p.N587S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GGTATTATCAACGAAGAAAAT	0.318													4	114	---	---	---	---	0	0
IRX5	10265	broad.mit.edu	37	16	54966502	54966502	+	Silent	SNP	A	A	G			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr16:54966502A>G	ENST00000394636.4	+	2	679	c.342A>G	c.(340-342)ccA>ccG	p.P114P	IRX5_ENST00000558597.1_Silent_p.P48P|IRX5_ENST00000320990.5_Silent_p.P114P|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	114					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	p.P114P(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACGGGGACCCAGCGTACCGGA	0.657													17	81	---	---	---	---	0	0
DNAH2	146754	broad.mit.edu	37	17	7690227	7690227	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:7690227A>T	ENST00000572933.1	+	42	7939	c.6479A>T	c.(6478-6480)gAc>gTc	p.D2160V	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2160	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D2160V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGAAACCCGACGAGAAGTGG	0.567													11	45	---	---	---	---	0	0
MYH4	4622	broad.mit.edu	37	17	10355525	10355525	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:10355525G>A	ENST00000255381.2	-	27	3581	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1157					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1157A(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCCCACCGGCTTCTTCCA	0.607													34	125	---	---	---	---	0	0
CSH2	1443	broad.mit.edu	37	17	61949662	61949662	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:61949662G>C	ENST00000392886.2	-	5	629	c.478C>G	c.(478-480)Cgg>Ggg	p.R160G	CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R65G|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	160					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.R160G(1)		endometrium(2)|large_intestine(1)|lung(3)	6						TGCCCAGTCCGGCGGCTGCCG	0.547													28	124	---	---	---	---	0	0
CSH2	1443	broad.mit.edu	37	17	61949663	61949663	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:61949663G>A	ENST00000392886.2	-	5	628	c.477C>T	c.(475-477)cgC>cgT	p.R159R	CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Silent_p.R64R|CSH2_ENST00000560142.1_Silent_p.R102R	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	159					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.R159R(1)		endometrium(2)|large_intestine(1)|lung(3)	6						GCCCAGTCCGGCGGCTGCCGT	0.547													27	119	---	---	---	---	0	0
DSG2	1829	broad.mit.edu	37	18	29099853	29099853	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr18:29099853G>A	ENST00000261590.8	+	3	378	c.169G>A	c.(169-171)Gct>Act	p.A57T	DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	57	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.A57T(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CGCCCCCGTGGCTCTTCGGGA	0.453													15	70	---	---	---	---	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630484	51630484	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:51630484G>C	ENST00000440804.3	+	4	1013	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A316P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	316	Ig-like C2-type 2.		A -> D (in dbSNP:rs273688).		cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.A316P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAGGGATGCAGCTGAATTCAC	0.632													8	45	---	---	---	---	0	0
PRKCG	5582	broad.mit.edu	37	19	54387493	54387493	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:54387493C>T	ENST00000263431.3	+	3	563	c.281C>T	c.(280-282)aCg>aTg	p.T94M	PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M|PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGCCCCCAGACGGACGTGAGT	0.577													14	67	---	---	---	---	0	0
ZNF749	388567	broad.mit.edu	37	19	57956721	57956721	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:57956721A>C	ENST00000334181.4	+	3	2455	c.2205A>C	c.(2203-2205)aaA>aaC	p.K735N	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K735N(1)|p.K648N(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ACTTCAACAAATGTAATACTG	0.398													18	89	---	---	---	---	0	0
TUBB1	81027	broad.mit.edu	37	20	57598857	57598857	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr20:57598857G>C	ENST00000217133.1	+	4	644	c.375G>C	c.(373-375)gaG>gaC	p.E125D		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	125					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	p.E125D(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	ACGAGAGTGAGAGCTGTGACT	0.602													19	108	---	---	---	---	0	0
PACSIN2	11252	broad.mit.edu	37	22	43267420	43267420	+	Silent	SNP	G	G	A			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr22:43267420G>A	ENST00000263246.3	-	11	1605	c.1404C>T	c.(1402-1404)cgC>cgT	p.R468R	PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000402229.1_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	468	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	p.R468R(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CGTTGTCCAAGCGTCCCTTGC	0.622													10	45	---	---	---	---	0	0
DMD	1756	broad.mit.edu	37	X	32536160	32536160	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chrX:32536160C>T	ENST00000357033.4	-	18	2463	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	DMD_ENST00000378677.2_Missense_Mutation_p.E749K|DMD_ENST00000288447.4_Missense_Mutation_p.E745K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	753					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E749K(2)|p.E748K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTGCCTTCCTTCCGAAAG	0.383													12	18	---	---	---	---	0	0
NOC2L	26155	broad.mit.edu	37	1	892349	892349	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:892349G>T	ENST00000327044.6	-	4	460	c.411C>A	c.(409-411)ccC>ccA	p.P137P	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	137						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAGCCCTCTGGGGACTCTGT	0.582													7	164	---	---	---	---	0	0
TMEM201	199953	broad.mit.edu	37	1	9662326	9662326	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:9662326C>A	ENST00000340305.5	+	6	1165	c.1156C>A	c.(1156-1158)Cga>Aga	p.R386R	TMEM201_ENST00000340381.6_Silent_p.R386R|TMEM201_ENST00000377376.4_Silent_p.R386R	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	386						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCCGGCCCCGAAGGTCAGA	0.642													4	20	---	---	---	---	0	0
HSPG2	3339	broad.mit.edu	37	1	22157724	22157724	+	Missense_Mutation	SNP	C	C	A	rs144525987		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:22157724C>A	ENST00000374695.3	-	84	11625	c.11546G>T	c.(11545-11547)cGg>cTg	p.R3849L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3849	EGF-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGCCGGTCCCGACAGGTGGG	0.682													5	125	---	---	---	---	0	0
MYOM3	127294	broad.mit.edu	37	1	24388587	24388587	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:24388587C>A	ENST00000330966.7	-	33	3954	c.3792G>T	c.(3790-3792)ctG>ctT	p.L1264L	MYOM3_ENST00000338909.5_Silent_p.L154L|MYOM3_ENST00000374434.3_Silent_p.L1261L|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1261										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACCACTCTCCAGACGTTTGT	0.517													6	172	---	---	---	---	0	0
AHDC1	27245	broad.mit.edu	37	1	27878163	27878163	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:27878163G>T	ENST00000374011.2	-	6	1432	c.464C>A	c.(463-465)cCg>cAg	p.P155Q	AHDC1_ENST00000247087.5_Missense_Mutation_p.P155Q	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	155	Pro-rich.						DNA binding	p.P155Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CGGTGCAGGCGGGCGGCTCAG	0.637													5	162	---	---	---	---	0	0
THEMIS2	9473	broad.mit.edu	37	1	28203119	28203119	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:28203119G>T	ENST00000373921.3	+	2	119	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	THEMIS2_ENST00000328928.7_Missense_Mutation_p.G39W|THEMIS2_ENST00000373927.3_Missense_Mutation_p.G39W|THEMIS2_ENST00000373925.1_Missense_Mutation_p.G39W	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		TGAGATCTCTGGGAATGAGTG	0.597													8	135	---	---	---	---	0	0
DNAJC8	22826	broad.mit.edu	37	1	28530322	28530322	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:28530322C>A	ENST00000263697.4	-	8	601	c.575G>T	c.(574-576)aGg>aTg	p.R192M	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	192					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCTTCCCTTTGTCGTTT	0.413													5	87	---	---	---	---	0	0
FABP3	2170	broad.mit.edu	37	1	31842339	31842339	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:31842339C>A	ENST00000373713.2	-	2	200	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	47					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		AGAATGTCCCCATTCTTTTCG	0.488													6	175	---	---	---	---	0	0
AGO1	26523	broad.mit.edu	37	1	36383945	36383945	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:36383945C>A	ENST00000373204.4	+	17	2399	c.2186C>A	c.(2185-2187)cCa>cAa	p.P729Q	AGO1_ENST00000373206.1_Missense_Mutation_p.P654Q	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GGTAACATCCCAGCTGGGACC	0.512													8	228	---	---	---	---	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37948984	37948984	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:37948984C>A	ENST00000373087.6	+	6	1688	c.1572C>A	c.(1570-1572)ccC>ccA	p.P524P		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	524	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCCCCACCCACATCAGTCC	0.667													6	118	---	---	---	---	0	0
PTCH2	8643	broad.mit.edu	37	1	45297648	45297648	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:45297648C>A	ENST00000447098.2	-	4	535	c.524G>T	c.(523-525)cGg>cTg	p.R175L	PTCH2_ENST00000372192.3_Splice_Site_p.R175L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	175				R -> W (in Ref. 1; AAC79847 and 4; AAQ88919/AAQ89375).	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	p.R175L(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GACACTTACCCGCTCAATCAT	0.507									Basal Cell Nevus syndrome				6	171	---	---	---	---	0	0
HECTD3	79654	broad.mit.edu	37	1	45475081	45475081	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:45475081C>A	ENST00000372172.4	-	6	1020	c.949G>T	c.(949-951)Ggg>Tgg	p.G317W		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	317	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	p.G317W(1)|p.G33W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AGGTTGTCCCCTTCACCCCCA	0.532													14	283	---	---	---	---	0	0
MROH7-TTC4	0	broad.mit.edu	37	1	55144482	55144482	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:55144482C>A	ENST00000414150.2	+	11	2282	c.2004C>A	c.(2002-2004)ccC>ccA	p.P668P	MROH7_ENST00000395690.2_Silent_p.P668P|MROH7_ENST00000545244.1_Silent_p.P236P|MROH7_ENST00000454855.2_Silent_p.P186P|MROH7_ENST00000339553.5_Silent_p.P668P|MROH7_ENST00000409996.1_Silent_p.P236P|MROH7_ENST00000421030.2_Silent_p.P668P																							TCCTGGGGCCCTACAACCCTG	0.577													5	66	---	---	---	---	0	0
SEC22B	9554	broad.mit.edu	37	1	145109576	145109576	+	RNA	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:145109576C>A	ENST00000453618.1	+	0	565							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGCTGCCTTCCCTAAGACGTT	0.428													10	525	---	---	---	---	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146649722	146649722	+	RNA	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:146649722G>T	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA																							CGCTGTTCCCGGGCGTGGCGC	0.741													3	21	---	---	---	---	0	0
CHD1L	9557	broad.mit.edu	37	1	146765330	146765330	+	Silent	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:146765330T>C	ENST00000369258.4	+	21	2450	c.2430T>C	c.(2428-2430)aaT>aaC	p.N810N	CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000431239.1_Silent_p.N716N	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	810	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					ATCGTTCCAATGTCCTGTCTG	0.463													26	151	---	---	---	---	0	0
SELENBP1	8991	broad.mit.edu	37	1	151339248	151339248	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:151339248G>T	ENST00000426705.2	-	6	884	c.740C>A	c.(739-741)gCa>gAa	p.A247E	SELENBP1_ENST00000447402.3_Missense_Mutation_p.A143E|SELENBP1_ENST00000368868.5_Missense_Mutation_p.A205E|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A141E	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	205					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	p.A205E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATTGGGAGCTGCCCACTCAGT	0.587													6	194	---	---	---	---	0	0
FLG2	388698	broad.mit.edu	37	1	152329418	152329418	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:152329418A>T	ENST00000388718.5	-	3	916	c.844T>A	c.(844-846)Tat>Aat	p.Y282N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	282	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATTGCTATAACCACATGCA	0.428													33	157	---	---	---	---	0	0
HAX1	10456	broad.mit.edu	37	1	154247929	154247929	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:154247929C>A	ENST00000328703.7	+	6	937	c.724C>A	c.(724-726)Cga>Aga	p.R242R	HAX1_ENST00000532105.1_Silent_p.R114R|HAX1_ENST00000483970.2_Silent_p.R250R|HAX1_ENST00000457918.2_Silent_p.R194R	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	242	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	p.R242R(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TACAGTAACCCGACACGAAGC	0.493									Kostmann syndrome				5	191	---	---	---	---	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317895	154317895	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:154317895C>A	ENST00000368489.3	+	23	2667	c.2667C>A	c.(2665-2667)ctC>ctA	p.L889L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	875					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCAGCGCCTCCTGCTGGTGC	0.532											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	434	---	---	---	---	0	0
OR10K1	391109	broad.mit.edu	37	1	158435737	158435737	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:158435737C>A	ENST00000289451.2	+	1	466	c.386C>A	c.(385-387)cCa>cAa	p.P129Q		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATCTGTAACCCACTGCGCTAC	0.552													7	193	---	---	---	---	0	0
ATP1A2	477	broad.mit.edu	37	1	160097494	160097494	+	Missense_Mutation	SNP	G	G	T	rs121918612		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:160097494G>T	ENST00000361216.3	+	8	990	c.901G>T	c.(901-903)Ggg>Tgg	p.G301W	ATP1A2_ENST00000392233.3_Missense_Mutation_p.G301W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	301					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGTATTCCTGGGGGTCTCCTT	0.577													7	196	---	---	---	---	0	0
FCRLB	127943	broad.mit.edu	37	1	161693343	161693343	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:161693343C>A	ENST00000367948.2	+	5	454	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	FCRLB_ENST00000367944.3_Missense_Mutation_p.P73Q|FCRLB_ENST00000367945.1_Missense_Mutation_p.P73Q|FCRLB_ENST00000367946.3_Missense_Mutation_p.P80Q|FCRLB_ENST00000392158.1_Missense_Mutation_p.P80Q|FCRLB_ENST00000336830.5_Missense_Mutation_p.P80Q			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	80	Ig-like C2-type 1.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GTGCAGACACCAGGGGTGTAT	0.592													5	92	---	---	---	---	0	0
F5	2153	broad.mit.edu	37	1	169511557	169511557	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:169511557C>A	ENST00000367796.3	-	13	2987	c.2786G>T	c.(2785-2787)tGg>tTg	p.W929L	F5_ENST00000367797.3_Missense_Mutation_p.W924L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	924	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGGGTCCTTCCAGGGCCTCAT	0.488													6	144	---	---	---	---	0	0
FAM129A	116496	broad.mit.edu	37	1	184787940	184787940	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:184787940C>A	ENST00000367511.3	-	9	1198	c.1005G>T	c.(1003-1005)gcG>gcT	p.A335A	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	335					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGCTTTTCTCCGCCGGCTGGG	0.547													5	169	---	---	---	---	0	0
PRG4	10216	broad.mit.edu	37	1	186275976	186275976	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:186275976C>A	ENST00000445192.2	+	7	1170	c.1125C>A	c.(1123-1125)ccC>ccA	p.P375P	PRG4_ENST00000367486.3_Silent_p.P332P|PRG4_ENST00000367484.3_Silent_p.P334P|PRG4_ENST00000367485.4_Silent_p.P282P|PRG4_ENST00000367483.4_Silent_p.P334P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	375	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGTCTGCACCCACCACCCCCA	0.637													6	110	---	---	---	---	0	0
PARP1	142	broad.mit.edu	37	1	226550822	226550822	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:226550822G>T	ENST00000366794.5	-	21	2969	c.2826C>A	c.(2824-2826)ccC>ccA	p.P942P	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	942	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTTGCCCTTGGGTAACTTGC	0.512								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	98	---	---	---	---	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232579422	232579422	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:232579422G>T	ENST00000366630.1	-	11	3721	c.3363C>A	c.(3361-3363)ccC>ccA	p.P1121P	SIPA1L2_ENST00000308942.4_Silent_p.P195P|SIPA1L2_ENST00000262861.4_Silent_p.P1121P			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1121					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACTGGTTGCTGGGTGAGCTTC	0.493													6	143	---	---	---	---	0	0
NID1	4811	broad.mit.edu	37	1	236205549	236205549	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:236205549C>A	ENST00000264187.6	-	4	878	c.796G>T	c.(796-798)Ggg>Tgg	p.G266W	NID1_ENST00000366595.3_Missense_Mutation_p.G266W	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	266	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCTGGACTCCCAATCTCAAAC	0.547													7	274	---	---	---	---	0	0
HEATR1	55127	broad.mit.edu	37	1	236734959	236734959	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:236734959C>A	ENST00000366582.3	-	27	3849	c.3735G>T	c.(3733-3735)caG>caT	p.Q1245H	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q1164H	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1245					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCATATTTCCCTGCTCTTGTG	0.378													5	55	---	---	---	---	0	0
GREB1	9687	broad.mit.edu	37	2	11718500	11718500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:11718500C>A	ENST00000381486.2	+	6	1015	c.715C>A	c.(715-717)Ccc>Acc	p.P239T	GREB1_ENST00000389825.3_Missense_Mutation_p.P129T|GREB1_ENST00000234142.5_Missense_Mutation_p.P239T|GREB1_ENST00000381483.2_Missense_Mutation_p.P239T|GREB1_ENST00000263834.5_Missense_Mutation_p.P239T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	239						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCTGCCTTCCCCAGCGAGCC	0.617													6	140	---	---	---	---	0	0
KCNK3	3777	broad.mit.edu	37	2	26950700	26950700	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:26950700G>T	ENST00000302909.3	+	2	574	c.449G>T	c.(448-450)cGg>cTg	p.R150L		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	150					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGCATGCGGCGCGCCGAC	0.652													5	102	---	---	---	---	0	0
CGREF1	10669	broad.mit.edu	37	2	27324270	27324270	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:27324270C>A	ENST00000402394.1	-	6	1097	c.829G>T	c.(829-831)Ggg>Tgg	p.G277W	CGREF1_ENST00000260595.5_Missense_Mutation_p.G260W|CGREF1_ENST00000405600.1_Missense_Mutation_p.G277W|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G277W|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G399W	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	260					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGCCCCCAGCTTCCCCT	0.637													9	377	---	---	---	---	0	0
CEP68	23177	broad.mit.edu	37	2	65299088	65299088	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:65299088C>A	ENST00000377990.2	+	3	1061	c.858C>A	c.(856-858)ccC>ccA	p.P286P	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Silent_p.P286P|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Silent_p.P286P	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	286					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCCATCACCCGACCGCCACT	0.577													6	160	---	---	---	---	0	0
DYSF	8291	broad.mit.edu	37	2	71730401	71730401	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:71730401C>A	ENST00000258104.3	+	4	571	c.294C>A	c.(292-294)tcC>tcA	p.S98S	DYSF_ENST00000409651.1_Silent_p.S99S|DYSF_ENST00000410020.3_Silent_p.S99S|DYSF_ENST00000410041.1_Silent_p.S99S|DYSF_ENST00000429174.2_Silent_p.S98S|DYSF_ENST00000413539.2_Silent_p.S98S|DYSF_ENST00000409744.1_Silent_p.S99S|DYSF_ENST00000409762.1_Silent_p.S98S|DYSF_ENST00000409366.1_Silent_p.S99S|DYSF_ENST00000409582.3_Silent_p.S98S|DYSF_ENST00000394120.2_Silent_p.S99S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	98						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTAGTCTGTCCGCCAGCTTCA	0.587													5	138	---	---	---	---	0	0
TTC31	64427	broad.mit.edu	37	2	74720244	74720244	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:74720244C>A	ENST00000233623.5	+	13	1466	c.1459C>A	c.(1459-1461)Cag>Aag	p.Q487K	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Silent_p.P145P	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	487							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCCCCTCTCCCAGACTCAGAG	0.597													8	167	---	---	---	---	0	0
M1AP	130951	broad.mit.edu	37	2	74789417	74789417	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:74789417C>A	ENST00000290536.5	-	8	1324	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L	M1AP_ENST00000358434.2_Intron|M1AP_ENST00000409585.1_Missense_Mutation_p.R403L|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.R403L	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2			meiosis 1 associated protein									p.R403Q(1)									CATCAGTTCCCGCGTGGCCAC	0.587													6	164	---	---	---	---	0	0
REG3G	130120	broad.mit.edu	37	2	79253898	79253898	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:79253898G>T	ENST00000272324.5	+	3	320	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	46					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCTCCAAGGCCTATGGCTC	0.512													12	58	---	---	---	---	0	0
KANSL3	55683	broad.mit.edu	37	2	97271200	97271200	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:97271200C>A	ENST00000599854.1	-	15	1996	c.1529G>T	c.(1528-1530)aGg>aTg	p.R510M	KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000431828.1_Missense_Mutation_p.R597M|KANSL3_ENST00000441706.2_Missense_Mutation_p.R510M|KANSL3_ENST00000440133.1_Missense_Mutation_p.R417M	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	623																	CAGCTGAACCCTAAGATCCTC	0.502													6	108	---	---	---	---	0	0
RPL31	6160	broad.mit.edu	37	2	101619172	101619172	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:101619172C>A	ENST00000409711.1	+	1	20	c.9C>A	c.(7-9)ccC>ccA	p.P3P	RPL31_ENST00000409038.1_Silent_p.P3P|RPL31_ENST00000409000.1_Silent_p.P3P|RPL31_ENST00000264258.3_Silent_p.P3P|RPL31_ENST00000409650.1_Silent_p.P3P|RPL31_ENST00000409028.4_Silent_p.P3P|RPL31_ENST00000409733.1_Silent_p.P3P|RPL31_ENST00000409320.3_Silent_p.P3P			P62899	RL31_HUMAN	ribosomal protein L31	3					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						AGATGGCTCCCGCAAAGAAGG	0.547													4	59	---	---	---	---	0	0
MAP4K4	9448	broad.mit.edu	37	2	102456434	102456434	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:102456434C>A	ENST00000413150.2	+	10	982	c.927C>A	c.(925-927)acC>acA	p.T309T	MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350198.4_Silent_p.T309T|MAP4K4_ENST00000324219.4_Silent_p.T309T|MAP4K4_ENST00000425019.1_Silent_p.T309T|MAP4K4_ENST00000347699.4_Silent_p.T309T|MAP4K4_ENST00000350878.4_Silent_p.T289T	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	309					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAGATCGTACCAGGAAGAAGA	0.403													5	82	---	---	---	---	0	0
IWS1	55677	broad.mit.edu	37	2	128281334	128281334	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:128281334C>A	ENST00000295321.4	-	2	327	c.68G>T	c.(67-69)cGg>cTg	p.R23L	IWS1_ENST00000455721.2_Missense_Mutation_p.R30L|IWS1_ENST00000486662.1_Intron	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	23					transcription, DNA-dependent	nucleus	DNA binding	p.R23L(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CCCTGAATCCCGTTCATCCTG	0.423													5	239	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	141777643	141777643	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:141777643C>A	ENST00000389484.3	-	12	2789	c.1818G>T	c.(1816-1818)gtG>gtT	p.V606V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	606					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAATCCAGTCCACAGCAATGC	0.363										TSP Lung(27;0.18)			6	131	---	---	---	---	0	0
LY75	4065	broad.mit.edu	37	2	160709826	160709826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:160709826C>A	ENST00000263636.4	-	20	2728	c.2701G>T	c.(2701-2703)Gga>Tga	p.G901*	LY75_ENST00000554112.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.G901*|LY75_ENST00000553424.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.G901*	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CATTCCTCTCCAAATGTCACA	0.358													5	87	---	---	---	---	0	0
SCN1A	6323	broad.mit.edu	37	2	166848589	166848589	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:166848589G>T	ENST00000423058.2	-	26	5213	c.5196C>A	c.(5194-5196)ccC>ccA	p.P1732P	SCN1A_ENST00000375405.3_Silent_p.P1721P|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Silent_p.P1732P|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.P1704P	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1732						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGTTGAGAATGGGTGCTAGCA	0.458													8	275	---	---	---	---	0	0
CHN1	1123	broad.mit.edu	37	2	175677131	175677131	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:175677131C>A	ENST00000409900.3	-	9	1105	c.792G>T	c.(790-792)aaG>aaT	p.K264N	CHN1_ENST00000409597.1_Missense_Mutation_p.K80N|CHN1_ENST00000409156.3_Missense_Mutation_p.K238N|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.K139N	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	264					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.K264N(1)|p.K139N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGCTGTACACCTTTTTGACAT	0.443			T	TAF15	extraskeletal myxoid chondrosarcoma								6	121	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179424579	179424579	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:179424579C>A	ENST00000589042.1	-	326	86504	c.86280G>T	c.(86278-86280)atG>atT	p.M28760I	TTN_ENST00000460472.2_Missense_Mutation_p.M19695I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M27119I|TTN_ENST00000342992.6_Missense_Mutation_p.M26192I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19887I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19820I|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27119	Fibronectin type-III 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTCTTCCTCATTTCACTGT	0.458													6	191	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179449161	179449161	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:179449161C>A	ENST00000589042.1	-	311	65341	c.65117G>T	c.(65116-65118)tGg>tTg	p.W21706L	TTN_ENST00000460472.2_Missense_Mutation_p.W12641L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W20065L|TTN_ENST00000342992.6_Missense_Mutation_p.W19138L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W12833L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W12766L|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20065	Ig-like 114.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTTCACCCACAGCAAACT	0.428													5	97	---	---	---	---	0	0
WDFY1	57590	broad.mit.edu	37	2	224746771	224746771	+	Missense_Mutation	SNP	C	C	A	rs144919121		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:224746771C>A	ENST00000233055.4	-	10	1054	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	318						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		ACAGCCTGCCCGCATTTCCTG	0.512													6	286	---	---	---	---	0	0
SGOL1	151648	broad.mit.edu	37	3	20219807	20219807	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:20219807G>T	ENST00000412997.1	-	4	723	c.372C>A	c.(370-372)ccC>ccA	p.P124P	SGOL1_ENST00000452020.1_Silent_p.P124P|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000383774.1_Silent_p.P124P|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Silent_p.P124P|SGOL1_ENST00000263753.4_Silent_p.P124P|SGOL1_ENST00000419233.2_Silent_p.P124P|SGOL1_ENST00000443724.1_Silent_p.P124P|SGOL1_ENST00000429446.3_Silent_p.P124P|SGOL1_ENST00000417364.1_Silent_p.P124P|SGOL1_ENST00000442720.1_Silent_p.P124P|SGOL1_ENST00000437051.1_Silent_p.P124P|SGOL1_ENST00000425061.1_Silent_p.P124P|SGOL1_ENST00000421451.1_Silent_p.P124P|SGOL1_ENST00000412868.1_Silent_p.P124P	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	124	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CATCACTATTGGGGTCCATTC	0.299													6	109	---	---	---	---	0	0
DLEC1	9940	broad.mit.edu	37	3	38139373	38139373	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:38139373C>A	ENST00000308059.6	+	18	2725	c.2704C>A	c.(2704-2706)Ctc>Atc	p.L902I	DLEC1_ENST00000346219.3_Missense_Mutation_p.L902I|DLEC1_ENST00000452631.2_Missense_Mutation_p.L902I			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	902					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCAGTCTCCCTCCAGGAAAG	0.597													5	51	---	---	---	---	0	0
CCDC36	339834	broad.mit.edu	37	3	49294496	49294496	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:49294496C>A	ENST00000438782.1	+	8	1802	c.1566C>A	c.(1564-1566)ccC>ccA	p.P522P	CCDC36_ENST00000296449.5_Silent_p.P522P|CCDC36_ENST00000452691.2_Silent_p.P522P			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	522										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CAGTCATGCCCAATAAGACAG	0.582													6	148	---	---	---	---	0	0
PBRM1	55193	broad.mit.edu	37	3	52598192	52598192	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:52598192G>T	ENST00000356770.4	-	22	3655	c.3653C>A	c.(3652-3654)cCa>cAa	p.P1218Q	PBRM1_ENST00000409057.1_Missense_Mutation_p.P1250Q|PBRM1_ENST00000296302.7_Missense_Mutation_p.P1250Q|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.P1225Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.P1250Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.P1265Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.P1225Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.P1265Q			Q86U86	PB1_HUMAN	polybromo 1	1250	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTCATTTTCTGGTATTTCAGT	0.408			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								5	98	---	---	---	---	0	0
MAGI1	9223	broad.mit.edu	37	3	65342651	65342651	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:65342651C>A	ENST00000402939.2	-	23	3790	c.3791G>T	c.(3790-3792)aGg>aTg	p.R1264M	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1293					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTTCGGATCCCTTGCGTGTGC	0.592													6	131	---	---	---	---	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641932	121641932	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:121641932C>A	ENST00000489711.1	+	10	1301	c.913C>A	c.(913-915)Ctt>Att	p.L305I	SLC15A2_ENST00000295605.2_Missense_Mutation_p.L274I	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	305					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.L305I(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GGTACTATTCCTTTATATCCC	0.458													7	215	---	---	---	---	0	0
ZNF148	7707	broad.mit.edu	37	3	124951822	124951822	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:124951822G>T	ENST00000360647.4	-	9	2233	c.1748C>A	c.(1747-1749)cCg>cAg	p.P583Q	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000484491.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	583					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATTCTCTGACGGGGTGACCTC	0.438													6	126	---	---	---	---	0	0
ZIC4	84107	broad.mit.edu	37	3	147108857	147108857	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:147108857C>A	ENST00000383075.3	-	4	1377	c.865G>T	c.(865-867)Ggg>Tgg	p.G289W	ZIC4_ENST00000425731.3_Missense_Mutation_p.G327W|ZIC4_ENST00000525172.2_Missense_Mutation_p.G339W|ZIC4_ENST00000484399.1_Missense_Mutation_p.G289W|ZIC4_ENST00000473123.1_Missense_Mutation_p.G289W|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.G83W	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	289						nucleus	DNA binding|zinc ion binding	p.G289W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGCGAGCGCCCGTGCACCTTC	0.662													4	72	---	---	---	---	0	0
MRPL47	57129	broad.mit.edu	37	3	179311582	179311582	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:179311582C>A	ENST00000476781.1	-	5	533	c.504G>T	c.(502-504)tgG>tgT	p.W168C	MRPL47_ENST00000259038.2_Missense_Mutation_p.W148C|MRPL47_ENST00000392659.2_Missense_Mutation_p.W58C	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	168					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TGTCTCTTCTCCAAGCACCAG	0.438													6	169	---	---	---	---	0	0
LNX1	84708	broad.mit.edu	37	4	54362300	54362300	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:54362300C>A	ENST00000306888.2	-	5	1203	c.952G>T	c.(952-954)Ggc>Tgc	p.G318C	LNX1_ENST00000263925.7_Missense_Mutation_p.G414C|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	414	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCCACACCGCCATCCAGCACA	0.502													6	182	---	---	---	---	0	0
NOA1	84273	broad.mit.edu	37	4	57829644	57829644	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:57829644C>A	ENST00000264230.4	-	7	3306	c.2069G>T	c.(2068-2070)aGg>aTg	p.R690M		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	690							GTP binding										TTTCTTCTTCCTCACGTTGTA	0.373													7	207	---	---	---	---	0	0
HELQ	113510	broad.mit.edu	37	4	84374734	84374734	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:84374734C>A	ENST00000295488.3	-	2	824	c.662G>T	c.(661-663)aGg>aTg	p.R221M	HELQ_ENST00000510985.1_Missense_Mutation_p.R221M	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	221							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTCCAATCCCTTTCTTTCAT	0.408								Other identified genes with known or suspected DNA repair function					5	99	---	---	---	---	0	0
TBCK	93627	broad.mit.edu	37	4	107229970	107229970	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:107229970G>T	ENST00000273980.5	-	3	595	c.148C>A	c.(148-150)Cat>Aat	p.H50N	TBCK_ENST00000394706.3_Missense_Mutation_p.H50N|TBCK_ENST00000394708.2_Missense_Mutation_p.H50N|TBCK_ENST00000361687.4_Missense_Mutation_p.H50N|TBCK_ENST00000432496.2_Missense_Mutation_p.H50N			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGTCTGGGATGGGTGATGGTT	0.398													6	115	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126237601	126237601	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:126237601C>A	ENST00000394329.3	+	1	48	c.35C>A	c.(34-36)cCg>cAg	p.P12Q		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGGCCGCCCGTGGCTCCCG	0.557											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	222	---	---	---	---	0	0
INTU	27152	broad.mit.edu	37	4	128635247	128635247	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:128635247G>T	ENST00000335251.6	+	15	2819	c.2716G>T	c.(2716-2718)Ggg>Tgg	p.G906W		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTGGGTAGTAGGGTAAGTGAG	0.338													5	62	---	---	---	---	0	0
PHF17	0	broad.mit.edu	37	4	129778549	129778549	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:129778549C>A	ENST00000226319.6	+	8	1201	c.921C>A	c.(919-921)ccC>ccA	p.P307P	PHF17_ENST00000413543.2_Silent_p.P307P|PHF17_ENST00000512960.1_Silent_p.P307P|PHF17_ENST00000452328.2_Silent_p.P295P|PHF17_ENST00000511647.1_Silent_p.P307P	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		307					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CACACATTCCCAGCAGCCGGT	0.522													8	262	---	---	---	---	0	0
SCLT1	132320	broad.mit.edu	37	4	129809839	129809839	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:129809839G>T	ENST00000281142.5	-	20	2502	c.1999C>A	c.(1999-2001)Cag>Aag	p.Q667K	SCLT1_ENST00000503215.1_Missense_Mutation_p.Q263K|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Missense_Mutation_p.Q286K|SCLT1_ENST00000439369.2_Missense_Mutation_p.Q154K	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	667						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CCTACCTGCTGGGAAGCTGAA	0.383													6	108	---	---	---	---	0	0
WDR17	116966	broad.mit.edu	37	4	177069298	177069298	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:177069298G>T	ENST00000393643.2	+	13	1961	c.1709G>T	c.(1708-1710)tGg>tTg	p.W570L	WDR17_ENST00000508596.1_Missense_Mutation_p.W570L|WDR17_ENST00000507824.2_Missense_Mutation_p.W577L|WDR17_ENST00000280190.4_Missense_Mutation_p.W594L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	594										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTTCGAATCTGGGATTATACT	0.328													5	126	---	---	---	---	0	0
NEIL3	55247	broad.mit.edu	37	4	178257465	178257465	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:178257465C>A	ENST00000264596.3	+	4	735	c.617C>A	c.(616-618)cCa>cAa	p.P206Q		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	206					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GGTCTCCACCCAGCTGTTAAA	0.403								Base excision repair (BER), DNA glycosylases					5	89	---	---	---	---	0	0
TENM3	55714	broad.mit.edu	37	4	183522162	183522162	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:183522162C>A	ENST00000511685.1	+	4	720	c.597C>A	c.(595-597)tcC>tcA	p.S199S	TENM3_ENST00000406950.2_Silent_p.S199S					teneurin transmembrane protein 3																		ATCATCCATCCATCACTTCTC	0.552													7	235	---	---	---	---	0	0
TENM3	55714	broad.mit.edu	37	4	183714859	183714859	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:183714859C>A	ENST00000511685.1	+	26	7157	c.7034C>A	c.(7033-7035)cCa>cAa	p.P2345Q	TENM3_ENST00000406950.2_Missense_Mutation_p.P2345Q					teneurin transmembrane protein 3																		CTGTATGACCCACTCACCAAA	0.398													6	102	---	---	---	---	0	0
CDH6	1004	broad.mit.edu	37	5	31323130	31323130	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:31323130C>A	ENST00000265071.2	+	12	2353	c.2088C>A	c.(2086-2088)gcC>gcA	p.A696A		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	696					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCCGAAGCCCTTTTCCTAC	0.522													9	60	---	---	---	---	0	0
PDZD2	23037	broad.mit.edu	37	5	31983622	31983622	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:31983622C>A	ENST00000438447.1	+	3	1226	c.838C>A	c.(838-840)Cat>Aat	p.H280N	PDZD2_ENST00000282493.3_Missense_Mutation_p.H280N			O15018	PDZD2_HUMAN	PDZ domain containing 2	280					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTGGACCCCATCTAGAGAG	0.522													5	125	---	---	---	---	0	0
HMGCS1	3157	broad.mit.edu	37	5	43294964	43294964	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:43294964C>A	ENST00000325110.6	-	7	1112		c.e7-1		HMGCS1_ENST00000433297.2_Splice_Site	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)						cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TTTAACATCCCTGAAAGATTT	0.323													7	87	---	---	---	---	0	0
POC5	134359	broad.mit.edu	37	5	74970301	74970301	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:74970301G>T	ENST00000428202.2	-	12	1876	c.1687C>A	c.(1687-1689)Cag>Aag	p.Q563K	POC5_ENST00000380475.2_Missense_Mutation_p.Q387K|POC5_ENST00000514838.2_Missense_Mutation_p.Q535K|POC5_ENST00000510798.1_Missense_Mutation_p.Q387K|POC5_ENST00000446329.2_Missense_Mutation_p.Q538K	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	563					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTGAGAGACTGGGTGTGAGCT	0.443													6	243	---	---	---	---	0	0
FBXL17	64839	broad.mit.edu	37	5	107216868	107216868	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:107216868A>G	ENST00000542267.1	-	8	2241	c.1835T>C	c.(1834-1836)aTt>aCt	p.I612T	FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T|FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	612										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTATCGCCCAATGGCTATCAG	0.453													24	103	---	---	---	---	0	0
DMXL1	1657	broad.mit.edu	37	5	118483101	118483101	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:118483101G>T	ENST00000311085.8	+	17	2927	c.2847G>T	c.(2845-2847)atG>atT	p.M949I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M949I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	949										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTTCAGAAATGGTTTATAGCC	0.363													5	62	---	---	---	---	0	0
FBN2	2201	broad.mit.edu	37	5	127648440	127648440	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:127648440C>A	ENST00000508053.1	-	43	5739	c.4765G>T	c.(4765-4767)Ggg>Tgg	p.G1589W	FBN2_ENST00000262464.4_Missense_Mutation_p.G1589W			P35556	FBN2_HUMAN	fibrillin 2	1589	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACAGACTCCCATCTCCTCGA	0.557													8	302	---	---	---	---	0	0
EGR1	1958	broad.mit.edu	37	5	137803740	137803740	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:137803740C>A	ENST00000239938.4	+	2	1874	c.1602C>A	c.(1600-1602)acC>acA	p.T534T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	534					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGACAGCAACCTTTTCTCCCA	0.512													6	106	---	---	---	---	0	0
PCDHB10	0	broad.mit.edu	37	5	140572969	140572969	+	Missense_Mutation	SNP	T	T	G	rs143726447	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140572969T>G	ENST00000239446.4	+	1	1028	c.844T>G	c.(844-846)Ttt>Gtt	p.F282V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		282	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTCATTTTTTGATGCCTC	0.393													12	58	---	---	---	---	0	0
PCDHGA5	0	broad.mit.edu	37	5	140745592	140745592	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140745592C>A	ENST00000518069.1	+	1	1695	c.1695C>A	c.(1693-1695)ccC>ccA	p.P565P	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGTACCCCGCCCTCCCCA	0.612													6	197	---	---	---	---	0	0
PCDHGA11	0	broad.mit.edu	37	5	140801620	140801620	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140801620G>T	ENST00000398587.2	+	1	859	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W	PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G276W|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.G276R(2)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATCAACGGGGAAGTAAT	0.463													5	221	---	---	---	---	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146080644	146080644	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:146080644C>A	ENST00000394413.3	-	2	702	c.132G>T	c.(130-132)aaG>aaT	p.K44N	PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K47N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K102N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K44N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K44N|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K33N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K44N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K50N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K110N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K33N			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	44					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCGACCCCCCTTGTCCCCTG	0.448													10	545	---	---	---	---	0	0
SPINK5	11005	broad.mit.edu	37	5	147486631	147486631	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:147486631G>T	ENST00000359874.3	+	17	1584	c.1511G>T	c.(1510-1512)aGg>aTg	p.R504M	SPINK5_ENST00000398454.1_Missense_Mutation_p.R504M|SPINK5_ENST00000256084.7_Missense_Mutation_p.R504M	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	504	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCAAGTGAGGAATGGAACA	0.438													6	115	---	---	---	---	0	0
NKX2-5	0	broad.mit.edu	37	5	172659608	172659608	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:172659608C>A	ENST00000329198.4	-	2	1212	c.939G>T	c.(937-939)tcG>tcT	p.S313S		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	313					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGGACACTCCCGAGTTGCTCT	0.657													4	50	---	---	---	---	0	0
IRF4	3662	broad.mit.edu	37	6	397187	397187	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:397187C>A	ENST00000380956.4	+	5	698	c.572C>A	c.(571-573)cCg>cAg	p.P191Q	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	191					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCGGAAATCCCGTACCAATGT	0.567			T	IGH@	MM								6	143	---	---	---	---	0	0
EEF1E1	9521	broad.mit.edu	37	6	8097604	8097604	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:8097604C>A	ENST00000379715.5	-	2	240	c.184G>T	c.(184-186)Ggg>Tgg	p.G62W	EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.G62W|EEF1E1_ENST00000429723.2_Missense_Mutation_p.G62W|EEF1E1_ENST00000507463.1_Missense_Mutation_p.G62W	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	62	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GCAGTACTCCCCAGCAAATAT	0.418													6	135	---	---	---	---	0	0
MYLIP	29116	broad.mit.edu	37	6	16145414	16145414	+	Silent	SNP	C	C	A	rs141183183		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:16145414C>A	ENST00000349606.4	+	5	1075	c.571C>A	c.(571-573)Cgg>Agg	p.R191R	MYLIP_ENST00000356840.3_Silent_p.R372R			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	372	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R372R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CCAGCAGACCCGGGTGCTGCA	0.582													5	137	---	---	---	---	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217532	26217532	+	Silent	SNP	C	C	A	rs16891432		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:26217532C>A	ENST00000303910.2	+	1	368	c.330C>A	c.(328-330)ccC>ccA	p.P110P		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	110					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GTGTCCTGCCCAACATCCAGG	0.572													5	71	---	---	---	---	0	0
ZNF322	79692	broad.mit.edu	37	6	26637649	26637649	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:26637649G>T	ENST00000415922.2	-	4	1778	c.1133C>A	c.(1132-1134)cCg>cAg	p.P378Q	ZNF322_ENST00000471278.1_Missense_Mutation_p.P378Q	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										ACAGACAAACGGTTTTTCACC	0.443													7	394	---	---	---	---	0	0
HIST1H4L	8368	broad.mit.edu	37	6	27841267	27841267	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:27841267C>A	ENST00000355981.2	-	1	22	c.22G>T	c.(22-24)Ggg>Tgg	p.G8W		NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	8					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						AGACccttcccgcctttgccg	0.557													4	69	---	---	---	---	0	0
PPP1R18	170954	broad.mit.edu	37	6	30653707	30653707	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:30653707C>A	ENST00000274853.3	-	1	1965	c.89G>T	c.(88-90)cGg>cTg	p.R30L	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.R30L	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	30						cytoplasm|cytoskeleton	actin binding										CAGGCGCTCCCGTTCTGCTTT	0.677													6	193	---	---	---	---	0	0
CFB	629	broad.mit.edu	37	6	31914338	31914338	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:31914338C>A	ENST00000456570.1	+	14	1814	c.1759C>A	c.(1759-1761)Ctg>Atg	p.L587M	CFB_ENST00000425368.2_Missense_Mutation_p.L85M|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.L587M			P00751	CFAB_HUMAN	complement factor B	85	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTGGAGCACCCTGAAGACTCA	0.577													5	37	---	---	---	---	0	0
BRPF3	27154	broad.mit.edu	37	6	36196700	36196700	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:36196700C>A	ENST00000534400.1	+	10	3229	c.3203C>A	c.(3202-3204)cCg>cAg	p.P1068Q	BRPF3_ENST00000543502.1_Silent_p.R831R|BRPF3_ENST00000534694.1_Silent_p.R767R|BRPF3_ENST00000443324.2_Silent_p.R767R|BRPF3_ENST00000339717.7_Silent_p.R831R|BRPF3_ENST00000357641.6_Silent_p.R1101R			Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	960					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAAGATGCCCCGGGAGGGCCT	0.612													6	106	---	---	---	---	0	0
DNAH8	1769	broad.mit.edu	37	6	38980409	38980409	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:38980409C>A	ENST00000359357.3	+	89	13313	c.13059C>A	c.(13057-13059)ccC>ccA	p.P4353P	DNAH8_ENST00000441566.1_Silent_p.P4317P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTTAATCCCCAAGGTATGT	0.378													6	160	---	---	---	---	0	0
USP49	25862	broad.mit.edu	37	6	41774513	41774513	+	Missense_Mutation	SNP	C	C	A	rs139687733	by1000genomes	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:41774513C>A	ENST00000394253.3	-	3	538	c.209G>T	c.(208-210)cGg>cTg	p.R70L	USP49_ENST00000373009.3_Missense_Mutation_p.R70L|USP49_ENST00000373006.1_Missense_Mutation_p.R70L|USP49_ENST00000297229.2_Missense_Mutation_p.R70L|USP49_ENST00000373010.1_Missense_Mutation_p.R70L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	70					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.R70L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTAGAGATCCCGGACTTCCAT	0.592													7	164	---	---	---	---	0	0
POLR1C	9533	broad.mit.edu	37	6	43488045	43488045	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:43488045G>T	ENST00000372389.3	+	6	623	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	POLR1C_ENST00000304004.3_Missense_Mutation_p.G179W|POLR1C_ENST00000372344.2_Missense_Mutation_p.G179W	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	179					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GATCCCCCTGGGGAACCAGGC	0.522													9	156	---	---	---	---	0	0
CYP39A1	51302	broad.mit.edu	37	6	46563765	46563765	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:46563765C>A	ENST00000275016.2	-	8	1227	c.1024G>T	c.(1024-1026)Ggt>Tgt	p.G342C		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	342					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GTAATGACACCAGGAGCTTTT	0.353													5	118	---	---	---	---	0	0
CRISP3	10321	broad.mit.edu	37	6	49703267	49703267	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:49703267C>A	ENST00000433368.2	-	4	365	c.296G>T	c.(295-297)tGg>tTg	p.W99L	CRISP3_ENST00000371159.4_Missense_Mutation_p.W107L|CRISP3_ENST00000263045.4_Missense_Mutation_p.W89L|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000393666.1_Missense_Mutation_p.W76L	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	76					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTGGTTTGCCCACTTTTGGGC	0.358													6	211	---	---	---	---	0	0
CRISP3	10321	broad.mit.edu	37	6	49704221	49704221	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:49704221C>A	ENST00000433368.2	-	3	211		c.e3-1		CRISP3_ENST00000371159.4_Splice_Site|CRISP3_ENST00000263045.4_Splice_Site|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000393666.1_Splice_Site	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3						innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AAGCGGGATCCTAAGGGAAAA	0.363													6	178	---	---	---	---	0	0
COL9A1	1297	broad.mit.edu	37	6	70965065	70965065	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:70965065C>A	ENST00000357250.6	-	22	1690	c.1532G>T	c.(1531-1533)gGa>gTa	p.G511V	COL9A1_ENST00000370499.4_Missense_Mutation_p.G268V|COL9A1_ENST00000320755.7_Missense_Mutation_p.G268V|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	511	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACCTGCTTCTCCTGGAGGTCC	0.363													6	134	---	---	---	---	0	0
MDN1	23195	broad.mit.edu	37	6	90460077	90460077	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:90460077C>A	ENST00000369393.3	-	24	3517	c.3402G>T	c.(3400-3402)aaG>aaT	p.K1134N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1134N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1134					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCTACCTTCCTTAAAGACAA	0.408													6	117	---	---	---	---	0	0
AK9	221264	broad.mit.edu	37	6	109867181	109867181	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:109867181C>A	ENST00000424296.2	-	26	3190	c.3114G>T	c.(3112-3114)gtG>gtT	p.V1038V	AK9_ENST00000341338.6_Silent_p.V117V|AK9_ENST00000355283.1_Silent_p.V117V	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		ATTCAGGTCCCACTTTCTTTT	0.368													6	105	---	---	---	---	0	0
DSE	29940	broad.mit.edu	37	6	116720686	116720686	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:116720686C>A	ENST00000331677.3	+	3	717	c.273C>A	c.(271-273)ccC>ccA	p.P91P	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Silent_p.P91P|DSE_ENST00000359564.2_Silent_p.P91P|DSE_ENST00000537543.1_Silent_p.P110P			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	91					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCTGGGATCCCAAGGACTACA	0.562													5	53	---	---	---	---	0	0
SLC35F1	222553	broad.mit.edu	37	6	118475607	118475607	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:118475607G>T	ENST00000360388.4	+	2	374		c.e2-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTATTTCTCAGGGAGATGTTA	0.418													6	118	---	---	---	---	0	0
MED23	9439	broad.mit.edu	37	6	131939623	131939623	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:131939623C>A	ENST00000403834.3	-	9	877	c.704G>T	c.(703-705)gGt>gTt	p.G235V	MED23_ENST00000368068.3_Missense_Mutation_p.G235V|MED23_ENST00000354577.4_Missense_Mutation_p.G235V|MED23_ENST00000368058.1_Missense_Mutation_p.G235V|MED23_ENST00000368053.4_Missense_Mutation_p.G235V|MED23_ENST00000368060.3_Missense_Mutation_p.G235V|MED23_ENST00000540546.1_Missense_Mutation_p.G235V|MED23_ENST00000539158.1_Missense_Mutation_p.G235V			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	235					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACAAATGGCACCCGAATTATT	0.368													5	27	---	---	---	---	0	0
TXLNB	167838	broad.mit.edu	37	6	139564168	139564168	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:139564168G>T	ENST00000358430.3	-	10	1782	c.1550C>A	c.(1549-1551)cCg>cAg	p.P517Q	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	517						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GGACTGGTGCGGGGTTGACTC	0.527													7	215	---	---	---	---	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081332	143081332	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:143081332C>A	ENST00000367603.2	-	9	6835	c.6093G>T	c.(6091-6093)gaG>gaT	p.E2031D	HIVEP2_ENST00000367604.1_Missense_Mutation_p.E2031D|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E2031D	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2031					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGGAGCTTGGCTCTGAAGGTA	0.483													6	193	---	---	---	---	0	0
ARID1B	57492	broad.mit.edu	37	6	157511228	157511228	+	Missense_Mutation	SNP	C	C	A	rs150196933		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:157511228C>A	ENST00000346085.5	+	15	3747	c.3746C>A	c.(3745-3747)cCg>cAg	p.P1249Q	ARID1B_ENST00000350026.5_Missense_Mutation_p.P1236Q|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1289Q|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1231Q	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1236					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.P1231Q(1)|p.P1249Q(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCATCCTTCCCGAAACGGAAC	0.512													6	229	---	---	---	---	0	0
ARID1B	57492	broad.mit.edu	37	6	157528693	157528693	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:157528693C>A	ENST00000346085.5	+	20	6419	c.6418C>A	c.(6418-6420)Caa>Aaa	p.Q2140K	ARID1B_ENST00000350026.5_Missense_Mutation_p.Q2127K|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2180K|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2122K	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2127					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAACCTTGCCCAAGGGGACGC	0.498													8	307	---	---	---	---	0	0
KIF25	0	broad.mit.edu	37	6	168431490	168431490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:168431490G>T	ENST00000443060.2	+	4	521	c.130G>T	c.(130-132)Gga>Tga	p.G44*	KIF25_ENST00000351261.3_Nonsense_Mutation_p.G44*|KIF25_ENST00000354419.2_Nonsense_Mutation_p.G44*			Q9UIL4	KIF25_HUMAN	kinesin family member 25	44	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CGCGGTCTTTGGAGATGTGTG	0.428													6	129	---	---	---	---	0	0
MAD1L1	8379	broad.mit.edu	37	7	2041727	2041727	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:2041727C>A	ENST00000406869.1	-	14	1946	c.1389G>T	c.(1387-1389)ctG>ctT	p.L463L	MAD1L1_ENST00000402746.1_Silent_p.L371L|MAD1L1_ENST00000399654.2_Silent_p.L463L|MAD1L1_ENST00000265854.7_Silent_p.L463L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	463	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTGGCCTCCCAGCTCCTCCA	0.627													7	235	---	---	---	---	0	0
AMZ1	155185	broad.mit.edu	37	7	2740198	2740198	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:2740198C>A	ENST00000312371.4	+	2	481	c.113C>A	c.(112-114)cCt>cAt	p.P38H	AMZ1_ENST00000407112.1_Missense_Mutation_p.P38H	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	38							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GCCTTCTCCCCTGCCGAGCGG	0.667													7	228	---	---	---	---	0	0
DFNA5	1687	broad.mit.edu	37	7	24758794	24758794	+	Translation_Start_Site	SNP	C	C	A	rs78941420		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:24758794C>A	ENST00000545231.1	-	0	1106				DFNA5_ENST00000409970.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000342947.3_Nonsense_Mutation_p.G150*|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.G150*|DFNA5_ENST00000419307.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000559637.1_5'UTR			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5						sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCATTCCTTCCTTCCAGCACC	0.493													6	128	---	---	---	---	0	0
POM121L12	285877	broad.mit.edu	37	7	53104001	53104001	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:53104001C>A	ENST00000408890.4	+	1	653	c.637C>A	c.(637-639)Cgg>Agg	p.R213R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	213										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCAGCCCCGGCCCTCTGC	0.672													5	111	---	---	---	---	0	0
FAM133B	257415	broad.mit.edu	37	7	92219586	92219586	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:92219586C>A	ENST00000445716.1	-	1	122	c.20G>T	c.(19-21)cGg>cTg	p.R7L	FAM133B_ENST00000438306.1_5'UTR	NM_152789.2	NP_690002.2	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	7										endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACTCACCACCCGATTGTCCCG	0.697											OREG0018164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	72	---	---	---	---	0	0
PEG10	23089	broad.mit.edu	37	7	94293631	94293631	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:94293631C>A	ENST00000482108.1	+	2	1242	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	PEG10_ENST00000488574.1_Silent_p.R255R	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	255	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCGCCACCCCGGGCGCTGGT	0.622													4	24	---	---	---	---	0	0
CYP3A43	64816	broad.mit.edu	37	7	99457531	99457531	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:99457531C>A	ENST00000354829.2	+	10	1047	c.944C>A	c.(943-945)cCc>cAc	p.P315H	CYP3A43_ENST00000312017.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000444905.1_Missense_Mutation_p.P62H|CYP3A43_ENST00000417625.1_Missense_Mutation_p.P205H|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000415413.1_Missense_Mutation_p.P104H|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Missense_Mutation_p.P175H	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	315			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	ACCACTCTCCCCTTCATTATG	0.463													6	153	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100674448	100674448	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:100674448C>A	ENST00000306151.4	+	2	194	c.130C>A	c.(130-132)Caa>Aaa	p.Q44K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	44						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGCATCTCCCAAGGGGACGT	0.537													6	190	---	---	---	---	0	0
RELN	5649	broad.mit.edu	37	7	103234873	103234873	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:103234873G>T	ENST00000428762.1	-	26	3765	c.3606C>A	c.(3604-3606)ccC>ccA	p.P1202P	RELN_ENST00000343529.5_Silent_p.P1202P|RELN_ENST00000424685.2_Silent_p.P1202P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1202					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAGAACACGGGCTGCCACC	0.488													6	283	---	---	---	---	0	0
RBM28	55131	broad.mit.edu	37	7	127954917	127954917	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:127954917C>A	ENST00000223073.2	-	17	2059	c.1945G>T	c.(1945-1947)Ggg>Tgg	p.G649W	RBM28_ENST00000415472.2_Missense_Mutation_p.G508W|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28						mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GTCTGGAACCCGGTCCATGAG	0.567													7	305	---	---	---	---	0	0
CALD1	800	broad.mit.edu	37	7	134650097	134650097	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:134650097G>T	ENST00000361388.2	+	14	2115	c.1649G>T	c.(1648-1650)tGg>tTg	p.W550L	CALD1_ENST00000361675.2_Missense_Mutation_p.W779L|CALD1_ENST00000495522.1_Missense_Mutation_p.W543L|CALD1_ENST00000424922.1_Missense_Mutation_p.W518L|CALD1_ENST00000417172.1_Missense_Mutation_p.W524L|CALD1_ENST00000543443.1_Missense_Mutation_p.W529L|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000422748.1_Missense_Mutation_p.W549L|CALD1_ENST00000393118.2_Missense_Mutation_p.W544L|CALD1_ENST00000361901.2_Missense_Mutation_p.W524L	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	779					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CGGAACCTCTGGGAAAAGCAA	0.428													7	178	---	---	---	---	0	0
SLC37A3	84255	broad.mit.edu	37	7	140043268	140043268	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:140043268C>A	ENST00000326232.9	-	13	1473	c.1270G>T	c.(1270-1272)Gcc>Tcc	p.A424S	SLC37A3_ENST00000340308.3_Intron|SLC37A3_ENST00000447932.2_Missense_Mutation_p.A408S	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	424					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GTGACAGTGGCCAAAGCTTCA	0.507													5	101	---	---	---	---	0	0
TMUB1	83590	broad.mit.edu	37	7	150779364	150779364	+	Missense_Mutation	SNP	G	G	T	rs146736140		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:150779364G>T	ENST00000392818.3	-	2	644	c.287C>A	c.(286-288)cCg>cAg	p.P96Q	TMUB1_ENST00000297533.4_Missense_Mutation_p.P96Q|TMUB1_ENST00000462940.1_Missense_Mutation_p.P96Q|TMUB1_ENST00000482202.1_Missense_Mutation_p.P96Q|TMUB1_ENST00000476627.1_Missense_Mutation_p.P96Q	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	96						cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGGAGTCCGGGGCTGGCGG	0.647													8	262	---	---	---	---	0	0
AGPAT5	55326	broad.mit.edu	37	8	6605324	6605324	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:6605324G>T	ENST00000285518.6	+	6	1032	c.720G>T	c.(718-720)caG>caT	p.Q240H	AGPAT5_ENST00000530716.1_3'UTR	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	240					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		ATGGAGGGCAGCGAAGAGAGT	0.413													8	78	---	---	---	---	0	0
TOX	9760	broad.mit.edu	37	8	59720736	59720736	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:59720736C>A	ENST00000361421.1	-	8	1705	c.1485G>T	c.(1483-1485)tcG>tcT	p.S495S		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	495						nucleus	DNA binding	p.S495S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TTCTGCACCCCGAACGCACAT	0.532											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78	---	---	---	---	0	0
HSF1	3297	broad.mit.edu	37	8	145537689	145537689	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:145537689C>A	ENST00000528838.1	+	12	1516	c.1356C>A	c.(1354-1356)ccC>ccA	p.P452P	HSF1_ENST00000400780.4_Silent_p.P393P|HSF1_ENST00000528842.1_3'UTR	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	452	Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCAGGCCTCCCGAGGCAGAGA	0.692													6	69	---	---	---	---	0	0
GPT	2875	broad.mit.edu	37	8	145730203	145730203	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:145730203C>A	ENST00000394955.2	+	3	525	c.302C>A	c.(301-303)cCt>cAt	p.P101H	GPT_ENST00000528431.1_Missense_Mutation_p.P101H	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	101					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCCAACTTCCCTGACGATGCC	0.657													8	339	---	---	---	---	0	0
PTPRD	5789	broad.mit.edu	37	9	8465565	8465565	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:8465565C>A	ENST00000381196.4	-	29	4158	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L	PTPRD_ENST00000358503.5_Silent_p.L1183L|PTPRD_ENST00000355233.5_Silent_p.L794L|PTPRD_ENST00000397606.3_Silent_p.L784L|PTPRD_ENST00000540109.1_Silent_p.L1205L|PTPRD_ENST00000356435.5_Silent_p.L1205L|PTPRD_ENST00000397617.3_Silent_p.L784L|PTPRD_ENST00000397611.3_Silent_p.L791L|PTPRD_ENST00000537002.1_Silent_p.L791L|PTPRD_ENST00000360074.4_Silent_p.L1192L|PTPRD_ENST00000486161.1_Silent_p.L794L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1205					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTCATCCCCCAGGGTGAACT	0.433										TSP Lung(15;0.13)			5	101	---	---	---	---	0	0
FREM1	158326	broad.mit.edu	37	9	14842488	14842488	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:14842488G>T	ENST00000380881.4	-	10	2382	c.1567C>A	c.(1567-1569)Ccg>Acg	p.P523T	FREM1_ENST00000380880.3_Missense_Mutation_p.P522T|FREM1_ENST00000422223.2_Missense_Mutation_p.P522T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	522					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGAGGAACGGGGGACTATCA	0.517													6	128	---	---	---	---	0	0
MIR31HG	0	broad.mit.edu	37	9	21512148	21512148	+	RNA	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:21512148C>A	ENST00000304425.3	-	0	181				MIR31_ENST00000362307.1_RNA	NR_027054.1																						AGCAGGTTCCCAGTTCAACAG	0.463													5	113	---	---	---	---	0	0
STOML2	30968	broad.mit.edu	37	9	35101709	35101709	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:35101709G>T	ENST00000356493.5	-	5	504	c.442C>A	c.(442-444)Cgg>Agg	p.R148R	STOML2_ENST00000452248.2_Silent_p.R148R	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	148						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGCTTACCCGGAAGACTTTG	0.507													6	229	---	---	---	---	0	0
ECM2	1842	broad.mit.edu	37	9	95263191	95263191	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:95263191C>A	ENST00000344604.5	-	9	1898	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L561L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	583					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ACAAGTATTCCAGGCCTGGTT	0.478													6	118	---	---	---	---	0	0
ZNF484	83744	broad.mit.edu	37	9	95608641	95608641	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:95608641C>A	ENST00000395505.2	-	3	2412	c.2320G>T	c.(2320-2322)Ggg>Tgg	p.G774W	ZNF484_ENST00000395506.3_Missense_Mutation_p.G812W|ZNF484_ENST00000375495.3_Missense_Mutation_p.G810W|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.G774W	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	810					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAGGCTTTCCCCAAGTCACTG	0.428													8	242	---	---	---	---	0	0
FRRS1L	23732	broad.mit.edu	37	9	111909389	111909389	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:111909389T>C	ENST00000561981.2	-	3	556	c.557A>G	c.(556-558)gAg>gGg	p.E186G		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like		DOMON.					integral to membrane											TGCACTCAGCTCAAATTCTAC	0.418													3	112	---	---	---	---	0	0
GARNL3	84253	broad.mit.edu	37	9	130152979	130152979	+	Silent	SNP	C	C	A	rs143165320	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:130152979C>A	ENST00000373387.4	+	27	3155	c.2803C>A	c.(2803-2805)Cgg>Agg	p.R935R	GARNL3_ENST00000435213.2_Silent_p.R913R|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	935					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ATCAAAACCCCGGAAGCGGTT	0.572													5	169	---	---	---	---	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022413	131022413	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:131022413C>A	ENST00000421699.2	-	18	1745	c.1733G>T	c.(1732-1734)aGg>aTg	p.R578M	GOLGA2_ENST00000609374.1_Missense_Mutation_p.R566M	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	578						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCCCAGCTCCCTCTTGACGTG	0.602													7	208	---	---	---	---	0	0
PNPLA7	375775	broad.mit.edu	37	9	140379166	140379166	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:140379166C>A	ENST00000406427.1	-	21	2556	c.2220G>T	c.(2218-2220)acG>acT	p.T740T	PNPLA7_ENST00000371457.1_Silent_p.T321T|PNPLA7_ENST00000277531.4_Silent_p.T715T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	715					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGCTGCCCTCCGTGGGGAGCC	0.672													3	15	---	---	---	---	0	0
ARRDC1	92714	broad.mit.edu	37	9	140509084	140509084	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:140509084C>A	ENST00000371421.4	+	7	933	c.869C>A	c.(868-870)cCa>cAa	p.P290Q	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	290	Pro-rich.									breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AACCATGCCCCAGTGAGCCCC	0.662													6	73	---	---	---	---	0	0
BEND7	222389	broad.mit.edu	37	10	13494598	13494598	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:13494598C>A	ENST00000341083.3	-	7	1264	c.968G>T	c.(967-969)tGg>tTg	p.W323L	BEND7_ENST00000396900.2_Missense_Mutation_p.W375L|BEND7_ENST00000396898.2_Missense_Mutation_p.W388L|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Missense_Mutation_p.W336L	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	375	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AATCTGTACCCAATCTCTTGG	0.368													6	131	---	---	---	---	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43678849	43678849	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:43678849C>A	ENST00000374466.3	+	8	1823	c.1488C>A	c.(1486-1488)ccC>ccA	p.P496P		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	496					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.P496P(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCTGACCCCCGAGCAGTACC	0.517													5	190	---	---	---	---	0	0
SYT15	83849	broad.mit.edu	37	10	46967673	46967673	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:46967673G>T	ENST00000374323.4	-	3	1150	c.563C>A	c.(562-564)cCg>cAg	p.P188Q	SYT15_ENST00000374325.3_Missense_Mutation_p.P135Q|SYT15_ENST00000374321.4_Missense_Mutation_p.P135Q|SYT15_ENST00000503753.1_Missense_Mutation_p.P135Q			Q9BQS2	SYT15_HUMAN	synaptotagmin XV		C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TTTGTCCTCCGGGAACTTGTA	0.627													6	203	---	---	---	---	0	0
NPY4R	0	broad.mit.edu	37	10	47087380	47087380	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:47087380G>T	ENST00000374312.1	+	3	1016	c.597G>T	c.(595-597)gtG>gtT	p.V199V	NPY4R_ENST00000395716.1_Silent_p.V199V	NM_005972.4	NP_005963.4			neuropeptide Y receptor Y4																		CGGATAAGGTGGTCTGTACCG	0.582													5	133	---	---	---	---	0	0
ZNF365	22891	broad.mit.edu	37	10	64159350	64159350	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:64159350G>T	ENST00000395254.3	+	5	1306	c.1026G>T	c.(1024-1026)aaG>aaT	p.K342N	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCCACCCAAAGGGAAGGAACC	0.562													7	219	---	---	---	---	0	0
CEP55	55165	broad.mit.edu	37	10	95259849	95259849	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:95259849G>T	ENST00000371485.3	+	2	345	c.41G>T	c.(40-42)tGg>tTg	p.W14L		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	14					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAAAGTAAGTGGGGATCGAAG	0.318													7	182	---	---	---	---	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98412456	98412456	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:98412456G>T	ENST00000339364.5	-	4	830	c.711C>A	c.(709-711)ccC>ccA	p.P237P	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Splice_Site_p.P59P	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	237	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACTACTTACTGGGAGCCTTCA	0.458													6	154	---	---	---	---	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118363546	118363546	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:118363546G>T	ENST00000528052.1	+	11	1139	c.1068G>T	c.(1066-1068)tgG>tgT	p.W356C	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.W356C|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.W356C			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	356	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GTGCAGGCTGGAGATATGGGG	0.438													4	29	---	---	---	---	0	0
OAT	4942	broad.mit.edu	37	10	126091508	126091508	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:126091508C>A	ENST00000368845.5	-	7	980	c.888G>T	c.(886-888)ggG>ggT	p.G296G	OAT_ENST00000539214.1_Silent_p.G158G|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	296					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	GGTATAAGCCCCCAGAAAGGG	0.408													7	159	---	---	---	---	0	0
APBB1	322	broad.mit.edu	37	11	6423820	6423820	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:6423820C>A	ENST00000389906.2	-	7	1339	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	APBB1_ENST00000530885.1_Missense_Mutation_p.G194W|APBB1_ENST00000608394.1_Missense_Mutation_p.G155W|APBB1_ENST00000311051.3_Missense_Mutation_p.G414W|APBB1_ENST00000608655.1_Missense_Mutation_p.G194W|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000608704.1_Missense_Mutation_p.G155W|APBB1_ENST00000609331.1_Missense_Mutation_p.G179W|APBB1_ENST00000609360.1_Missense_Mutation_p.G414W|APBB1_ENST00000299402.6_Missense_Mutation_p.G414W|APBB1_ENST00000608645.1_Missense_Mutation_p.G155W			O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	414	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCAGCCCCCAGACATGGGG	0.582													6	109	---	---	---	---	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7656792	7656792	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:7656792G>T	ENST00000299492.4	+	14	1592	c.1204G>T	c.(1204-1206)Ggg>Tgg	p.G402W	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.G290W|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.G259W|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.G244W	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	402					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTGTATGGATGGGAACCAGCC	0.423													5	96	---	---	---	---	0	0
HIPK3	10114	broad.mit.edu	37	11	33374937	33374937	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:33374937C>A	ENST00000303296.4	+	17	3776	c.3471C>A	c.(3469-3471)ccC>ccA	p.P1157P	HIPK3_ENST00000525975.1_Silent_p.P1136P|HIPK3_ENST00000456517.1_Silent_p.P1136P|HIPK3_ENST00000379016.3_Silent_p.P1136P	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1157					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TCTCCCATCCCAGTGGCATAG	0.502													6	162	---	---	---	---	0	0
TMEM109	79073	broad.mit.edu	37	11	60688429	60688429	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:60688429C>A	ENST00000227525.3	+	3	712	c.309C>A	c.(307-309)gcC>gcA	p.A103A	TMEM109_ENST00000536171.1_Silent_p.A103A|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	103						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CTGGGATCGCCGCACAGCTGC	0.537													5	178	---	---	---	---	0	0
CHRM1	1128	broad.mit.edu	37	11	62677296	62677296	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:62677296C>A	ENST00000306960.3	-	2	1818	c.1277G>T	c.(1276-1278)cGg>cTg	p.R426L	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	426					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	AAAGGTGTCCCGGAAGGCTTT	0.627													5	203	---	---	---	---	0	0
ATG2A	23130	broad.mit.edu	37	11	64677317	64677317	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:64677317G>T	ENST00000421419.2	-	14	2057	c.1943C>A	c.(1942-1944)cCc>cAc	p.P648H	ATG2A_ENST00000377264.3_Missense_Mutation_p.P648H			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	648							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTCGGCAATGGGGAAGCGCAG	0.701													5	74	---	---	---	---	0	0
ZFPL1	7542	broad.mit.edu	37	11	64853980	64853980	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:64853980C>A	ENST00000294258.3	+	4	460	c.308C>A	c.(307-309)cCc>cAc	p.P103H		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	103					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TGCAATGGCCCCATCTTCCCC	0.647													7	184	---	---	---	---	0	0
TCIRG1	10312	broad.mit.edu	37	11	67817721	67817721	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:67817721C>A	ENST00000265686.3	+	18	2344	c.2236C>A	c.(2236-2238)Cag>Aag	p.Q746K	TCIRG1_ENST00000532635.1_Splice_Site_p.Q530K	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	746					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGCCCACGCCCGTGAGTGACC	0.672													5	122	---	---	---	---	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796817	93796817	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:93796817C>A	ENST00000315765.9	+	3	567	c.559C>A	c.(559-561)Cat>Aat	p.H187N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	187	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTGGGTGTACCATTCGCACAT	0.542													21	112	---	---	---	---	0	0
PGR	5241	broad.mit.edu	37	11	100962584	100962584	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:100962584C>A	ENST00000325455.5	-	3	3266	c.1813G>T	c.(1813-1815)Gga>Tga	p.G605*	PGR_ENST00000263463.5_Nonsense_Mutation_p.G605*|PGR_ENST00000534013.1_Nonsense_Mutation_p.G11*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	605					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCATTTCTTCCAGCACATAAG	0.393													4	26	---	---	---	---	0	0
MMP13	4322	broad.mit.edu	37	11	102820888	102820888	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:102820888G>T	ENST00000260302.3	-	6	896	c.868C>A	c.(868-870)Ctt>Att	p.L290I	MMP13_ENST00000340273.4_Missense_Mutation_p.L290I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	290	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATGGCATCAAGGGATAAGGAA	0.433													7	226	---	---	---	---	0	0
SIK3	23387	broad.mit.edu	37	11	116733016	116733016	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:116733016C>A	ENST00000375300.1	-	16	1992	c.1987G>T	c.(1987-1989)Ggg>Tgg	p.G663W	SIK3_ENST00000292055.4_Missense_Mutation_p.G605W|SIK3_ENST00000375288.1_Silent_p.T36T|SIK3_ENST00000542607.1_Missense_Mutation_p.G605W|SIK3_ENST00000446921.2_Missense_Mutation_p.G663W|SIK3_ENST00000434315.2_Missense_Mutation_p.G504W|SIK3_ENST00000488337.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	605	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCTGCCCCCCGTACATCTTC	0.493													6	198	---	---	---	---	0	0
RNF214	257160	broad.mit.edu	37	11	117109673	117109673	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:117109673C>A	ENST00000531452.1	+	3	510	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	RNF214_ENST00000530849.1_Intron|RNF214_ENST00000531287.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.P155Q	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	155							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAGAAATCCCCACAAACCTCC	0.522													6	71	---	---	---	---	0	0
TECTA	7007	broad.mit.edu	37	11	120996467	120996467	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:120996467C>A	ENST00000392793.1	+	8	1931	c.1660C>A	c.(1660-1662)Ctg>Atg	p.L554M	TECTA_ENST00000264037.2_Missense_Mutation_p.L554M			O75443	TECTA_HUMAN	tectorin alpha	554					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTGTATGACCTGTGCAGTGT	0.577													6	144	---	---	---	---	0	0
C11orf63	79864	broad.mit.edu	37	11	122774677	122774677	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:122774677C>A	ENST00000227349.2	+	3	686	c.389C>A	c.(388-390)cCg>cAg	p.P130Q	C11orf63_ENST00000307257.6_Missense_Mutation_p.P130Q|C11orf63_ENST00000531316.1_Missense_Mutation_p.P130Q	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	130										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGCTATGACCCGAACTGGAAG	0.478													8	296	---	---	---	---	0	0
NCAPD3	23310	broad.mit.edu	37	11	134046279	134046279	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:134046279C>A	ENST00000534548.2	-	24	3088	c.3024G>T	c.(3022-3024)gaG>gaT	p.E1008D		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1008					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCACAAATTCCTCCTGTGCAG	0.547													5	82	---	---	---	---	0	0
ITFG2	55846	broad.mit.edu	37	12	2921985	2921985	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:2921985C>A	ENST00000228799.2	+	1	198	c.59C>A	c.(58-60)cCg>cAg	p.P20Q	ITFG2_ENST00000542548.1_5'UTR|RP4-816N1.6_ENST00000547834.1_RNA|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	20										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGCCTCTTCCCGCACGCAATC	0.607													5	154	---	---	---	---	0	0
VWF	7450	broad.mit.edu	37	12	6103761	6103761	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:6103761C>A	ENST00000261405.5	-	36	6330	c.6076G>T	c.(6076-6078)Ggg>Tgg	p.G2026W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2026	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACCAGTCTCCCATTCACCGTC	0.473													5	68	---	---	---	---	0	0
USP5	0	broad.mit.edu	37	12	6961392	6961392	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:6961392C>A	ENST00000229268.8	+	1	101	c.49C>A	c.(49-51)Cgg>Agg	p.R17R	USP5_ENST00000389231.5_Silent_p.R17R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	17					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACCGACGATCCGGGTCCCTAA	0.642													4	36	---	---	---	---	0	0
GPD1	2819	broad.mit.edu	37	12	50497833	50497833	+	Translation_Start_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:50497833C>A	ENST00000301149.3	+	0	232				GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_De_novo_Start_InFrame	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)						glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GACGCGGCACCATGGCTAGCA	0.602													6	148	---	---	---	---	0	0
KRT72	140807	broad.mit.edu	37	12	52979802	52979802	+	Silent	SNP	C	C	A	rs149656096		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:52979802C>A	ENST00000293745.2	-	9	1585	c.1500G>T	c.(1498-1500)tcG>tcT	p.S500S	KRT72_ENST00000398066.3_Silent_p.S312S|KRT72_ENST00000537672.2_Silent_p.S500S|KRT72_ENST00000354310.4_Silent_p.S458S	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	500	Tail.					keratin filament	structural molecule activity	p.S500S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		AGCTGCTCCCCGAGGTTTTGG	0.557													7	228	---	---	---	---	0	0
KRT72	140807	broad.mit.edu	37	12	52984711	52984711	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:52984711C>A	ENST00000293745.2	-	6	1083	c.998G>T	c.(997-999)gGg>gTg	p.G333V	KRT72_ENST00000398066.3_Missense_Mutation_p.G145V|KRT72_ENST00000537672.2_Missense_Mutation_p.G333V|KRT72_ENST00000354310.4_Intron	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	333	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GAGGTCATCCCCATGCTGGCC	0.537													5	82	---	---	---	---	0	0
HOXC10	3226	broad.mit.edu	37	12	54379100	54379100	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:54379100C>A	ENST00000303460.4	+	1	131	c.57C>A	c.(55-57)ccC>ccA	p.P19P	HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	19					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TGGCTGCGCCCGGCGGAGGAG	0.597													5	159	---	---	---	---	0	0
ESYT1	23344	broad.mit.edu	37	12	56536108	56536108	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:56536108C>A	ENST00000394048.5	+	25	2896	c.2632C>A	c.(2632-2634)Ctg>Atg	p.L878M	ESYT1_ENST00000267113.4_Missense_Mutation_p.L888M|ESYT1_ENST00000541590.1_Missense_Mutation_p.L888M|ESYT1_ENST00000550878.1_Intron	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	878						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTCATTATCCCTGCCCCTCTC	0.577													7	189	---	---	---	---	0	0
MBD6	0	broad.mit.edu	37	12	57919487	57919487	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:57919487C>A	ENST00000355673.3	+	6	1092	c.736C>A	c.(736-738)Ccg>Acg	p.P246T	MBD6_ENST00000431731.2_Missense_Mutation_p.P246T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	246	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGGCTCTCCTCCGGCCCCTCA	0.617													8	290	---	---	---	---	0	0
MON2	23041	broad.mit.edu	37	12	62931436	62931436	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:62931436C>A	ENST00000393630.3	+	16	2459	c.2068C>A	c.(2068-2070)Cat>Aat	p.H690N	MON2_ENST00000552115.1_Missense_Mutation_p.H690N|MON2_ENST00000280379.6_Missense_Mutation_p.H690N|MON2_ENST00000546600.1_Missense_Mutation_p.H690N|MON2_ENST00000393632.2_Missense_Mutation_p.H690N|MON2_ENST00000393629.2_Missense_Mutation_p.H690N|MON2_ENST00000552738.1_Missense_Mutation_p.H667N	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	690					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GGCGCATTGCCATGGGGCTGT	0.338													5	116	---	---	---	---	0	0
SRGAP1	57522	broad.mit.edu	37	12	64485104	64485104	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:64485104C>A	ENST00000355086.3	+	12	2009	c.1485C>A	c.(1483-1485)ccC>ccA	p.P495P	SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	495					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGTCCAGGCCCCGCTCACAGT	0.458													5	72	---	---	---	---	0	0
PLXNC1	10154	broad.mit.edu	37	12	94641723	94641723	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:94641723C>A	ENST00000258526.4	+	13	2682	c.2433C>A	c.(2431-2433)ccC>ccA	p.P811P		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	811					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.P811P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTAGCCCCCAGTTTAAAGA	0.448													6	185	---	---	---	---	0	0
IKBIP	121457	broad.mit.edu	37	12	99007500	99007500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:99007500C>A	ENST00000342502.2	-	3	1327	c.916G>T	c.(916-918)Ggg>Tgg	p.G306W	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.G200W	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	306					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ACCAATCTCCCAATGCGTAGT	0.323													6	88	---	---	---	---	0	0
NUP37	79023	broad.mit.edu	37	12	102471269	102471269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:102471269C>A	ENST00000552283.1	-	7	692	c.553G>T	c.(553-555)Gag>Tag	p.E185*	NUP37_ENST00000251074.1_Nonsense_Mutation_p.E185*			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	185					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CCATTCTTCTCTGCAACCATT	0.378													5	89	---	---	---	---	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110465570	110465570	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:110465570G>T	ENST00000261739.4	+	9	1110	c.944G>T	c.(943-945)gGg>gTg	p.G315V		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	315										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GGTGCACAAGGGGTAAGTTGA	0.443													6	96	---	---	---	---	0	0
CIT	11113	broad.mit.edu	37	12	120166400	120166400	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:120166400C>A	ENST00000392521.2	-	28	3553	c.3498G>T	c.(3496-3498)ctG>ctT	p.L1166L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.L1124L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1124	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTTCTTCTCCAGGTCATTGA	0.458													6	240	---	---	---	---	0	0
MLEC	9761	broad.mit.edu	37	12	121134244	121134244	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:121134244C>A	ENST00000228506.3	+	5	1203	c.775C>A	c.(775-777)Cgc>Agc	p.R259S	MLEC_ENST00000412616.2_Silent_p.P180P|MLEC_ENST00000535413.1_3'UTR	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	259					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						GTCAGGCCCCCGCACACCCAA	0.512													7	207	---	---	---	---	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049311	36049311	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:36049311G>T	ENST00000379919.4	-	1	1521	c.965C>A	c.(964-966)cCg>cAg	p.P322Q	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	322					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ATCTAAGTTCGGTAGAAAGTA	0.537													6	173	---	---	---	---	0	0
ZC3H13	23091	broad.mit.edu	37	13	46544601	46544601	+	Splice_Site	SNP	C	C	A	rs111945370		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:46544601C>A	ENST00000242848.4	-	13	2817		c.e13-1		ZC3H13_ENST00000282007.3_Splice_Site			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13								nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATAGCGCTTCCTAAATTGGAC	0.408													6	146	---	---	---	---	0	0
RNF113B	140432	broad.mit.edu	37	13	98829414	98829414	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:98829414C>A	ENST00000267291.6	-	1	105	c.77G>T	c.(76-78)gGa>gTa	p.G26V	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	26							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCCTTTCCGTCCAGGCTTTTT	0.647													5	49	---	---	---	---	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089998	115089998	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:115089998C>A	ENST00000361283.1	+	3	990	c.681C>A	c.(679-681)ccC>ccA	p.P227P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	227	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										ATCCCAAACCCCAGAAGCAGT	0.527													7	201	---	---	---	---	0	0
TRAV12-2	0	broad.mit.edu	37	14	22356675	22356675	+	RNA	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:22356675C>A	ENST00000390437.2	+	0	438																											ACCTCTGTGCCGTGAACACAC	0.522													5	201	---	---	---	---	0	0
PABPN1	8106	broad.mit.edu	37	14	23793354	23793354	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:23793354C>A	ENST00000397276.2	+	6	750	c.737C>A	c.(736-738)cCa>cAa	p.P246Q	PABPN1_ENST00000216727.4_Missense_Mutation_p.P246Q|PABPN1_ENST00000557702.1_Missense_Mutation_p.P118Q|PABPN1_ENST00000556821.1_Missense_Mutation_p.P118Q|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.P273Q|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.P273Q					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGGTGATCCCAAAACGAACC	0.507													5	81	---	---	---	---	0	0
MYH6	4624	broad.mit.edu	37	14	23855798	23855798	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:23855798C>A	ENST00000405093.3	-	33	4755	c.4685G>T	c.(4684-4686)cGg>cTg	p.R1562L	MYH6_ENST00000356287.3_Missense_Mutation_p.R1562L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1562					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TAGCTGGGCCCGGAGGATCTT	0.642													5	214	---	---	---	---	0	0
RIPK3	11035	broad.mit.edu	37	14	24808680	24808680	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:24808680C>A	ENST00000216274.5	-	2	362	c.144G>T	c.(142-144)gcG>gcT	p.A48A	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	48	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CGATCTTGACCGCCACATCGT	0.602													5	204	---	---	---	---	0	0
NFATC4	4776	broad.mit.edu	37	14	24845950	24845950	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:24845950C>A	ENST00000413692.2	+	10	2840	c.2696C>A	c.(2695-2697)cCt>cAt	p.P899H	NFATC4_ENST00000556279.1_Missense_Mutation_p.P868H|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000554344.1_Missense_Mutation_p.P766H|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000555393.1_Missense_Mutation_p.P124H|NFATC4_ENST00000250373.4_Missense_Mutation_p.P836H|NFATC4_ENST00000553708.1_Missense_Mutation_p.P836H|NFATC4_ENST00000555590.1_Missense_Mutation_p.P849H|NFATC4_ENST00000553879.1_Missense_Mutation_p.P766H|NFATC4_ENST00000555167.1_Missense_Mutation_p.P371H|NFATC4_ENST00000555453.1_Missense_Mutation_p.P824H|NFATC4_ENST00000557451.1_Missense_Mutation_p.P766H|NFATC4_ENST00000424781.2_Missense_Mutation_p.P849H|NFATC4_ENST00000422617.3_Missense_Mutation_p.P824H|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.P371H|NFATC4_ENST00000539237.2_Missense_Mutation_p.P868H|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.P124H|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554661.1_Intron	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	836					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CATCCCCTACCTGCTGAGGGA	0.637													6	136	---	---	---	---	0	0
DCAF5	8816	broad.mit.edu	37	14	69542088	69542088	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:69542088C>A	ENST00000341516.5	-	7	1067	c.920G>T	c.(919-921)tGg>tTg	p.W307L	DCAF5_ENST00000554215.1_Missense_Mutation_p.W225L|DCAF5_ENST00000556847.1_Missense_Mutation_p.W225L|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.W306L	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	307						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AGGAATTCTCCACATGTACAG	0.383													7	294	---	---	---	---	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452969	102452969	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:102452969C>A	ENST00000360184.4	+	8	2571	c.2407C>A	c.(2407-2409)Ctt>Att	p.L803I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	803	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACCATTTCCCTTTTGGTGGC	0.522													6	145	---	---	---	---	0	0
HERC2	8924	broad.mit.edu	37	15	28375705	28375705	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:28375705C>A	ENST00000261609.7	-	82	12714	c.12606G>T	c.(12604-12606)gtG>gtT	p.V4202V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4202					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCCGCATTCCACTTTAACTA	0.423													6	229	---	---	---	---	0	0
FRMD5	84978	broad.mit.edu	37	15	44211981	44211981	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:44211981C>A	ENST00000417257.1	-	3	410	c.234G>T	c.(232-234)gtG>gtT	p.V78V	FRMD5_ENST00000402883.1_Silent_p.V78V|FRMD5_ENST00000484674.1_5'UTR	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	78	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ATTGTTTCACCACAGACTTTG	0.408													5	77	---	---	---	---	0	0
SHF	90525	broad.mit.edu	37	15	45467512	45467512	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:45467512C>A	ENST00000290894.8	-	4	1051	c.557G>T	c.(556-558)cGg>cTg	p.R186L	RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560540.1_Missense_Mutation_p.R251L|SHF_ENST00000560471.1_Missense_Mutation_p.R251L|SHF_ENST00000318390.6_Missense_Mutation_p.R243L|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000458022.2_Missense_Mutation_p.R49L|SHF_ENST00000560734.1_Missense_Mutation_p.R251L	NM_138356.2	NP_612365	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	186										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GCGGGACTCCCGGGGCCAGGG	0.627													3	15	---	---	---	---	0	0
GNB5	0	broad.mit.edu	37	15	52433337	52433337	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:52433337C>A	ENST00000261837.7	-	7	692	c.627G>T	c.(625-627)caG>caT	p.Q209H	GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Splice_Site_p.Q167H	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	209						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCCTATTTACCTGCATGTCAG	0.507													6	87	---	---	---	---	0	0
ISLR	3671	broad.mit.edu	37	15	74468100	74468100	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:74468100C>A	ENST00000249842.3	+	2	1258	c.901C>A	c.(901-903)Cag>Aag	p.Q301K	ISLR_ENST00000395118.1_Missense_Mutation_p.Q301K|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	301	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGCCAGCTCCCAGCCGCGCTT	0.632													7	122	---	---	---	---	0	0
UBL7	84993	broad.mit.edu	37	15	74740896	74740896	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:74740896C>A	ENST00000567435.1	-	10	1391	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	UBL7_ENST00000361351.4_Missense_Mutation_p.G310W|UBL7_ENST00000565335.1_Missense_Mutation_p.G310W|UBL7_ENST00000395081.2_Missense_Mutation_p.G310W|UBL7_ENST00000564488.1_Missense_Mutation_p.G310W			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	310							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ATGGGCGTCCCTGACTGGACA	0.557													8	290	---	---	---	---	0	0
LINGO1	84894	broad.mit.edu	37	15	77906909	77906909	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:77906909C>A	ENST00000355300.6	-	2	1514	c.1340G>T	c.(1339-1341)cGg>cTg	p.R447L	LINGO1_ENST00000561030.1_Missense_Mutation_p.R441L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	447	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCCATCGGCCCGGCACACAAA	0.667													3	16	---	---	---	---	0	0
CHRNA3	0	broad.mit.edu	37	15	78893932	78893932	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:78893932G>T	ENST00000326828.5	-	5	1436	c.1052C>A	c.(1051-1053)cCc>cAc	p.P351H	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P351H	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	351					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CATGACCCTGGGGAGCAGGTT	0.552													8	100	---	---	---	---	0	0
ARNT2	9915	broad.mit.edu	37	15	80883998	80883998	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:80883998G>T	ENST00000533983.1	+	19	2314	c.1975G>T	c.(1975-1977)Ggt>Tgt	p.G659C	ARNT2_ENST00000527771.1_Missense_Mutation_p.G659C|ARNT2_ENST00000303329.4_Missense_Mutation_p.G670C			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	670					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCAGCAGAGCGGTGAGCAGCA	0.597													4	116	---	---	---	---	0	0
AGBL1	123624	broad.mit.edu	37	15	87531319	87531319	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:87531319C>A	ENST00000421325.2	+	22	3185	c.3185C>A	c.(3184-3186)cCg>cAg	p.P1062Q	RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000441037.2_Splice_Site_p.P1062Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.P793Q			Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1062					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						catgtctccccgtgagtatgt	0.413													7	180	---	---	---	---	0	0
FES	2242	broad.mit.edu	37	15	91437271	91437271	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91437271G>T	ENST00000328850.3	+	18	2451	c.2309G>T	c.(2308-2310)cGg>cTg	p.R770L	FES_ENST00000414248.2_Missense_Mutation_p.R642L|FES_ENST00000394302.1_Missense_Mutation_p.R629L|FES_ENST00000394300.3_Missense_Mutation_p.R712L|FES_ENST00000444422.2_Missense_Mutation_p.R700L|FES_ENST00000450438.2_Missense_Mutation_p.R642L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	770	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CAGCAGACACGGGAGTTTGTG	0.577													7	319	---	---	---	---	0	0
HDDC3	374659	broad.mit.edu	37	15	91475004	91475004	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91475004G>T	ENST00000330334.3	-	3	344	c.339C>A	c.(337-339)ccC>ccA	p.P113P	HDDC3_ENST00000559898.1_Silent_p.P113P|HDDC3_ENST00000394272.3_Silent_p.P113P|UNC45A_ENST00000394275.2_Intron	NM_198527.2	NP_940929.1	Q8N4P3	MESH1_HUMAN	HD domain containing 3	113	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTTTGGCCCCGGGGCTACTGT	0.582											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	183	---	---	---	---	0	0
PRC1	9055	broad.mit.edu	37	15	91524744	91524744	+	Silent	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91524744T>C	ENST00000361188.5	-	5	1868	c.657A>G	c.(655-657)caA>caG	p.Q219Q	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q|PRC1_ENST00000361919.3_Silent_p.Q219Q			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	219	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCAACTTTTGTAGTGTTG	0.408													4	57	---	---	---	---	0	0
ITFG3	83986	broad.mit.edu	37	16	314923	314923	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:314923C>A	ENST00000399932.3	+	13	2012	c.1561C>A	c.(1561-1563)Cca>Aca	p.P521T	ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000301678.3_Missense_Mutation_p.P521T|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000301679.2_Intron	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	521						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GGACCTTGTCCCAAGCAGCAG	0.657													5	62	---	---	---	---	0	0
GLYR1	84656	broad.mit.edu	37	16	4882096	4882096	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:4882096C>A	ENST00000321919.9	-	5	497	c.421G>T	c.(421-423)Gga>Tga	p.G141*	GLYR1_ENST00000591451.1_Nonsense_Mutation_p.G141*|GLYR1_ENST00000381983.3_Nonsense_Mutation_p.G141*|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Intron	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	141					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TTTCCTTCTCCCATGTTCTTC	0.522													6	163	---	---	---	---	0	0
ERCC4	2072	broad.mit.edu	37	16	14028088	14028088	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:14028088G>T	ENST00000311895.7	+	7	1151	c.1142G>T	c.(1141-1143)tGg>tTg	p.W381L	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	381					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCCAAAGTGGGAGGCACTG	0.363			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	159	---	---	---	---	0	0
C16orf93	90835	broad.mit.edu	37	16	30771664	30771664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:30771664G>T	ENST00000543610.1	-	4	1371	c.410C>A	c.(409-411)tCa>tAa	p.S137*	PHKG2_ENST00000424889.3_3'UTR|C16orf93_ENST00000545825.1_Nonsense_Mutation_p.S137*|PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000541260.1_Nonsense_Mutation_p.S137*	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	137										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CTGCTCCAGTGAGAAGCCCTG	0.612													5	83	---	---	---	---	0	0
BCKDK	10295	broad.mit.edu	37	16	31122021	31122021	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:31122021G>T	ENST00000394951.1	+	9	1278	c.655G>T	c.(655-657)Ggc>Tgc	p.G219C	BCKDK_ENST00000287507.3_Missense_Mutation_p.G219C|BCKDK_ENST00000219794.6_Missense_Mutation_p.G219C|BCKDK_ENST00000394950.3_Missense_Mutation_p.G219C			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	219	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TGACTTTGTCGGCATCATCTG	0.572													7	210	---	---	---	---	0	0
ITGAD	3681	broad.mit.edu	37	16	31422456	31422456	+	Silent	SNP	C	C	A	rs138291839		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:31422456C>A	ENST00000389202.2	+	13	1465	c.1416C>A	c.(1414-1416)acC>acA	p.T472T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	472					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGCAGCACCGACCTGATCC	0.647													5	109	---	---	---	---	0	0
ITGAD	3681	broad.mit.edu	37	16	31427854	31427854	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:31427854C>A	ENST00000389202.2	+	20	2435	c.2386C>A	c.(2386-2388)Ctg>Atg	p.L796M		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	796					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGAGCTCCCTGGAGCTCAA	0.617													6	133	---	---	---	---	0	0
IRX5	10265	broad.mit.edu	37	16	54966433	54966433	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:54966433C>A	ENST00000394636.4	+	2	610	c.273C>A	c.(271-273)ccC>ccA	p.P91P	IRX5_ENST00000320990.5_Silent_p.P91P|IRX5_ENST00000558597.1_Silent_p.P25P|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	91					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACCACACACCCGGCATGGCGG	0.652													5	100	---	---	---	---	0	0
AMFR	267	broad.mit.edu	37	16	56423200	56423200	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:56423200C>A	ENST00000290649.5	-	9	1383	c.1173G>T	c.(1171-1173)agG>agT	p.R391S		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	391					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GATGTTCTTCCCTGACACGAT	0.458													6	105	---	---	---	---	0	0
CDH1	999	broad.mit.edu	37	16	68849503	68849503	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:68849503C>A	ENST00000261769.5	+	10	1597	c.1406C>A	c.(1405-1407)tCc>tAc	p.S469Y	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.S408Y|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	469	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTCACCACCTCCACAGCCACC	0.532			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				6	140	---	---	---	---	0	0
WDR59	79726	broad.mit.edu	37	16	74919621	74919621	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:74919621C>A	ENST00000262144.6	-	25	2749	c.2619G>T	c.(2617-2619)tgG>tgT	p.W873C		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	873										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTCTCAGACCCCAACGGTAGA	0.463													6	84	---	---	---	---	0	0
OVCA2	124641	broad.mit.edu	37	17	1946353	1946353	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:1946353C>A	ENST00000572195.1	+	2	654	c.639C>A	c.(637-639)ccC>ccA	p.P213P	RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	213					response to retinoic acid	cytoplasm	hydrolase activity										CAGCTGCACCCCAGCGTCAGG	0.562											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	115	---	---	---	---	0	0
GP1BA	2811	broad.mit.edu	37	17	4837468	4837468	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:4837468C>A	ENST00000329125.5	+	2	1644	c.1569C>A	c.(1567-1569)ccC>ccA	p.P523P		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	523										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TTCTCCACCCCGACTTTTGCT	0.562													6	120	---	---	---	---	0	0
DHX33	56919	broad.mit.edu	37	17	5366889	5366889	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:5366889G>C	ENST00000225296.3	-	2	610	c.410C>G	c.(409-411)aCt>aGt	p.T137S	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	137	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGAGACTCTAGTAGCAAGAGA	0.512													3	157	---	---	---	---	0	0
SHBG	6462	broad.mit.edu	37	17	7535319	7535319	+	Missense_Mutation	SNP	C	C	A	rs140325118		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:7535319C>A	ENST00000380450.4	+	6	869	c.838C>A	c.(838-840)Cac>Aac	p.H280N	SHBG_ENST00000340624.5_Missense_Mutation_p.H222N|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000416273.3_Missense_Mutation_p.H280N|SHBG_ENST00000576728.1_Missense_Mutation_p.H168N|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000574539.1_Missense_Mutation_p.H222N|SHBG_ENST00000575314.1_Missense_Mutation_p.H222N|SHBG_ENST00000572262.1_Missense_Mutation_p.H168N|SHBG_ENST00000575903.1_Missense_Mutation_p.H262N	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	280	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GCTCAGTCTCCACCTCCAAGA	0.562													7	205	---	---	---	---	0	0
DNAH2	146754	broad.mit.edu	37	17	7727981	7727981	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:7727981C>A	ENST00000572933.1	+	77	13249	c.11789C>A	c.(11788-11790)cCc>cAc	p.P3930H	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3930H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3930	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCTCCATCCCCCACCCAGAC	0.552													7	132	---	---	---	---	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29849385	29849385	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:29849385C>A	ENST00000325874.8	+	7	1130	c.901C>A	c.(901-903)Cga>Aga	p.R301R	RAB11FIP4_ENST00000394744.2_Silent_p.R199R	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	301	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TAGCCCCAACCGAAAGATCTC	0.577													5	117	---	---	---	---	0	0
C17orf66	256957	broad.mit.edu	37	17	34185976	34185976	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:34185976C>A	ENST00000311880.2	-	9	1003	c.855G>T	c.(853-855)ctG>ctT	p.L285L	C17orf66_ENST00000592980.1_Silent_p.L245L	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	285							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCAGGAAACCCAGGCACAGGG	0.567													5	80	---	---	---	---	0	0
MRPL45	84311	broad.mit.edu	37	17	36476512	36476512	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:36476512G>T	ENST00000312513.5	+	6	682	c.521G>T	c.(520-522)tGg>tTg	p.W174L		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	174					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACATGACTTGGGACATCAAA	0.473													7	242	---	---	---	---	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36935636	36935636	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:36935636C>A	ENST00000269554.3	-	5	1134	c.654G>T	c.(652-654)aaG>aaT	p.K218N	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	218	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGCCCTTTACCTTGAGGTCAT	0.552													6	156	---	---	---	---	0	0
STAC2	342667	broad.mit.edu	37	17	37371269	37371269	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:37371269C>A	ENST00000333461.5	-	6	1076	c.707G>T	c.(706-708)cGg>cTg	p.R236L		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	236					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CAGCTCATCCCGCTCACTCTA	0.627													5	178	---	---	---	---	0	0
FBXL20	84961	broad.mit.edu	37	17	37439105	37439105	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:37439105C>A	ENST00000264658.6	-	8	758	c.498G>T	c.(496-498)gaG>gaT	p.E166D	FBXL20_ENST00000583610.1_Missense_Mutation_p.E166D|FBXL20_ENST00000577399.1_Missense_Mutation_p.E168D|FBXL20_ENST00000394294.3_Missense_Mutation_p.E134D	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	166						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GTGGACATCCCTCACTTAGGA	0.418													6	124	---	---	---	---	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843415	40843415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:40843415G>T	ENST00000264638.4	+	15	2447	c.2230G>T	c.(2230-2232)Gga>Tga	p.G744*	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	744	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AACTGACAAGGGACTGCTGAC	0.592													5	47	---	---	---	---	0	0
HOXB1	3211	broad.mit.edu	37	17	46608050	46608050	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:46608050C>A	ENST00000239174.6	-	1	309	c.217G>T	c.(217-219)Ggg>Tgg	p.G73W	HOXB1_ENST00000577092.1_Missense_Mutation_p.G73W	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	73						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.G73W(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAGGGCACCCCCAGGGTCGAA	0.672													5	74	---	---	---	---	0	0
SMG8	55181	broad.mit.edu	37	17	57290243	57290243	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:57290243C>A	ENST00000543872.2	+	4	2323	c.2059C>A	c.(2059-2061)Caa>Aaa	p.Q687K	SMG8_ENST00000300917.5_Missense_Mutation_p.Q687K|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	687					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	p.Q687K(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ACCTCAAACCCAAGGAGAGAG	0.463													6	192	---	---	---	---	0	0
KCNH6	81033	broad.mit.edu	37	17	61611529	61611529	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:61611529C>A	ENST00000583023.1	+	5	969	c.958C>A	c.(958-960)Cgc>Agc	p.R320S	KCNH6_ENST00000314672.5_Missense_Mutation_p.R320S|KCNH6_ENST00000581784.1_Missense_Mutation_p.R320S|KCNH6_ENST00000580652.1_Missense_Mutation_p.R320S|KCNH6_ENST00000456941.2_Missense_Mutation_p.R320S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	320					regulation of transcription, DNA-dependent|signal transduction			p.R320C(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CATCAACTTCCGCACCACCTA	0.582													5	191	---	---	---	---	0	0
POLG2	11232	broad.mit.edu	37	17	62492985	62492985	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:62492985C>A	ENST00000539111.2	-	1	169	c.102G>T	c.(100-102)acG>acT	p.T34T		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	34					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TACTCCTTTCCGTCAACAGCT	0.647													5	107	---	---	---	---	0	0
CACNG4	27092	broad.mit.edu	37	17	65021031	65021031	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:65021031G>T	ENST00000262138.3	+	3	362	c.360G>T	c.(358-360)ctG>ctT	p.L120L		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	120					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TGCTCCTGCTGGGTGGCCTGT	0.652													7	155	---	---	---	---	0	0
HELZ	9931	broad.mit.edu	37	17	65134173	65134173	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:65134173C>A	ENST00000358691.5	-	22	2993	c.2827G>T	c.(2827-2829)Ggg>Tgg	p.G943W	HELZ_ENST00000580168.1_Missense_Mutation_p.G944W	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCTAACTTCCCCCACGCTACT	0.388													6	111	---	---	---	---	0	0
GRB2	0	broad.mit.edu	37	17	73316460	73316460	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:73316460G>T	ENST00000392562.1	-	6	1425	c.643C>A	c.(643-645)Cgg>Agg	p.R215R	GRB2_ENST00000578961.1_3'UTR|GRB2_ENST00000316804.5_Silent_p.R215R|GRB2_ENST00000392563.1_Silent_p.R174R|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316615.5_Silent_p.R174R|GRB2_ENST00000392564.1_Silent_p.R215R			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	215	SH3 2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TAGACGTTCCGGTTCACGGGG	0.453													6	356	---	---	---	---	0	0
KIAA0195	9772	broad.mit.edu	37	17	73491708	73491708	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:73491708C>A	ENST00000314256.7	+	22	3322	c.2928C>A	c.(2926-2928)acC>acA	p.T976T	KIAA0195_ENST00000579208.1_Silent_p.T627T|KIAA0195_ENST00000375248.5_Silent_p.T986T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	976					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTTTTCACCGACTGCACCC	0.637													7	228	---	---	---	---	0	0
UNK	85451	broad.mit.edu	37	17	73811288	73811288	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:73811288G>T	ENST00000293218.3	+	8	1143	c.1143G>T	c.(1141-1143)tcG>tcT	p.S381S	UNK_ENST00000589666.1_Silent_p.S305S			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	305							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCAGCAGTCGGGCAGCTGTC	0.652													6	179	---	---	---	---	0	0
UBE2O	63893	broad.mit.edu	37	17	74392583	74392583	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:74392583C>A	ENST00000319380.7	-	14	2499	c.2435G>T	c.(2434-2436)cGg>cTg	p.R812L		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	812							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTTCAACTCCCGGAAGCTCTT	0.647													9	312	---	---	---	---	0	0
UBE2O	63893	broad.mit.edu	37	17	74392836	74392836	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:74392836C>A	ENST00000319380.7	-	14	2246	c.2182G>T	c.(2182-2184)Ggg>Tgg	p.G728W		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	728							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GAGGATGCCCCGCTGGTGCTG	0.567													5	152	---	---	---	---	0	0
TBC1D16	125058	broad.mit.edu	37	17	77923570	77923570	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:77923570C>A	ENST00000310924.2	-	7	1467	c.1352G>T	c.(1351-1353)cGg>cTg	p.R451L	TBC1D16_ENST00000572862.1_Missense_Mutation_p.R89L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.R76L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.R89L|TBC1D16_ENST00000570373.1_Missense_Mutation_p.R90L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	451	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CAGCGCCTCCCGCTCCTCCGA	0.642													5	178	---	---	---	---	0	0
YES1	7525	broad.mit.edu	37	18	748004	748004	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:748004C>A	ENST00000584307.1	-	4	556	c.386G>T	c.(385-387)tGg>tTg	p.W129L	YES1_ENST00000577961.1_Missense_Mutation_p.W134L|YES1_ENST00000314574.4_Missense_Mutation_p.W129L			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	129	SH3.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TCTTGCTTCCCACCAATCTCC	0.433													7	198	---	---	---	---	0	0
MYOM1	8736	broad.mit.edu	37	18	3129369	3129369	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:3129369G>T	ENST00000400569.3	-	18	2988	c.2655C>A	c.(2653-2655)ccC>ccA	p.P885P	MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000356443.4_Silent_p.P885P			P52179	MYOM1_HUMAN	myomesin 1	885						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAGAGCTACTGGGTAGTGAAG	0.542											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	252	---	---	---	---	0	0
MYO5B	4645	broad.mit.edu	37	18	47516881	47516881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:47516881C>A	ENST00000285039.7	-	7	1065	c.766G>T	c.(766-768)Gag>Tag	p.E256*		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	256	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TAATTCCTCTCATCATCTGCC	0.502													4	51	---	---	---	---	0	0
ALPK2	115701	broad.mit.edu	37	18	56184193	56184193	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:56184193C>A	ENST00000361673.3	-	9	6100	c.5887G>T	c.(5887-5889)Ggg>Tgg	p.G1963W		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1963	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTTCTGGTCCCATAGGCAATG	0.537													6	188	---	---	---	---	0	0
RTTN	25914	broad.mit.edu	37	18	67836099	67836099	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:67836099C>A	ENST00000255674.6	-	12	1967	c.1681G>T	c.(1681-1683)Ggg>Tgg	p.G561W	RTTN_ENST00000454359.1_Missense_Mutation_p.G561W|RTTN_ENST00000437017.1_Missense_Mutation_p.G561W	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	561							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACCTCTTTCCCAATATCAGAC	0.294													6	117	---	---	---	---	0	0
DOT1L	84444	broad.mit.edu	37	19	2210676	2210676	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:2210676C>A	ENST00000398665.3	+	14	1209	c.1173C>A	c.(1171-1173)ccC>ccA	p.P391P		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	391	Required for interaction with nucleosomes and DNA.					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCGTCTCCCTCCAAAGCCC	0.612													8	156	---	---	---	---	0	0
PIAS4	51588	broad.mit.edu	37	19	4013131	4013131	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:4013131C>A	ENST00000262971.2	+	2	353	c.238C>A	c.(238-240)Ccc>Acc	p.P80T		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	80					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCACCGGCCCCTGGACCC	0.637													4	85	---	---	---	---	0	0
MPND	84954	broad.mit.edu	37	19	4355118	4355118	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:4355118C>A	ENST00000599840.1	+	8	979	c.944C>A	c.(943-945)cCt>cAt	p.P315H	MPND_ENST00000262966.8_Missense_Mutation_p.P315H|MPND_ENST00000359935.4_Intron			Q8N594	MPND_HUMAN	MPN domain containing	315	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCCTTCCCTTGTCGGAGC	0.677													5	44	---	---	---	---	0	0
INSR	0	broad.mit.edu	37	19	7267518	7267518	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:7267518G>T	ENST00000341500.5	-	2	529	c.490C>A	c.(490-492)Ctg>Atg	p.L164M	INSR_ENST00000302850.5_Missense_Mutation_p.L164M	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	164					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACGGAATCCAGGATACGGGAC	0.527													5	74	---	---	---	---	0	0
CYP4F11	57834	broad.mit.edu	37	19	16040400	16040400	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:16040400C>A	ENST00000402119.4	-	2	636	c.210G>T	c.(208-210)acG>acT	p.T70T	CYP4F11_ENST00000326742.8_Silent_p.T70T|CYP4F11_ENST00000248041.8_Silent_p.T70T	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCCTCTTCCGTGGGAGTGA	0.517													8	128	---	---	---	---	0	0
UPF1	5976	broad.mit.edu	37	19	18974273	18974273	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:18974273C>A	ENST00000262803.5	+	19	2899	c.2627C>A	c.(2626-2628)cCg>cAg	p.P876Q	UPF1_ENST00000599848.1_Missense_Mutation_p.P887Q	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	887					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	p.P876Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGGGCAACCCGAAGGCACTA	0.597													6	309	---	---	---	---	0	0
UPF1	5976	broad.mit.edu	37	19	18976570	18976570	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:18976570C>A	ENST00000262803.5	+	22	3492	c.3220C>A	c.(3220-3222)Cag>Aag	p.Q1074K	UPF1_ENST00000599848.1_Missense_Mutation_p.Q1085K	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1085	Gln/Ser-rich.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGCCTCTCCCAGCCGGAGCT	0.647													5	93	---	---	---	---	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278578	36278578	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:36278578C>A	ENST00000007510.4	+	21	3255	c.3111C>A	c.(3109-3111)ccC>ccA	p.P1037P	ARHGAP33_ENST00000378944.5_Silent_p.P873P|ARHGAP33_ENST00000314737.5_Silent_p.P876P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1037					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCCAGCCCCCAGGGAGTGCC	0.697													6	64	---	---	---	---	0	0
LRFN3	79414	broad.mit.edu	37	19	36430931	36430931	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:36430931C>A	ENST00000588831.1	+	3	1658	c.604C>A	c.(604-606)Cgc>Agc	p.R202S	LRFN3_ENST00000246529.3_Missense_Mutation_p.R202S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	202					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCTTTTTCCCGCCTGCACAA	0.697													6	208	---	---	---	---	0	0
TBCB	1155	broad.mit.edu	37	19	36616652	36616652	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:36616652C>A	ENST00000221855.3	+	6	1278	c.703C>A	c.(703-705)Ccg>Acg	p.P235T	TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Missense_Mutation_p.P184T	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	235					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGGACTTCCCGGAGGAGGA	0.572													7	227	---	---	---	---	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39907506	39907506	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:39907506C>A	ENST00000425673.1	+	7	935	c.610C>A	c.(610-612)Cgg>Agg	p.R204R	PLEKHG2_ENST00000409797.2_Silent_p.R204R|PLEKHG2_ENST00000458508.2_Silent_p.R145R|PLEKHG2_ENST00000378550.1_Silent_p.R204R|PLEKHG2_ENST00000409794.3_Silent_p.R204R			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	204	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCCTGCTCCGGGAGCTGTC	0.667													5	172	---	---	---	---	0	0
FBL	2091	broad.mit.edu	37	19	40331076	40331076	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:40331076C>A	ENST00000221801.3	-	3	374	c.261G>T	c.(259-261)atG>atT	p.M87I		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	87					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GCGGCTCCACCATCACATTCT	0.612													7	264	---	---	---	---	0	0
ITPKC	80271	broad.mit.edu	37	19	41231253	41231253	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:41231253C>A	ENST00000263370.2	+	2	1197	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	388						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGCAAACCCTGGAAGAAGC	0.567													7	187	---	---	---	---	0	0
IRGQ	126298	broad.mit.edu	37	19	44097036	44097036	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:44097036C>A	ENST00000422989.1	-	3	1169	c.1014G>T	c.(1012-1014)ccG>ccT	p.P338P	IRGQ_ENST00000602269.1_Silent_p.P338P|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Silent_p.P51P	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	338							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCAGACACTCCGGATCCTCGC	0.612													6	204	---	---	---	---	0	0
RSPH6A	81492	broad.mit.edu	37	19	46318255	46318255	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:46318255C>A	ENST00000221538.3	-	1	322	c.180G>T	c.(178-180)agG>agT	p.R60S	RSPH6A_ENST00000597055.1_Missense_Mutation_p.R60S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	60						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ACAGGCTGCCCCTCTGTGACC	0.647													6	70	---	---	---	---	0	0
MBOAT7	79143	broad.mit.edu	37	19	54692102	54692102	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:54692102C>A	ENST00000245615.1	-	3	655	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R28L|MBOAT7_ENST00000391754.1_Missense_Mutation_p.G59W|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R28L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	59					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGGTCCCGAGGATGGTG	0.622													4	86	---	---	---	---	0	0
SEC23B	10483	broad.mit.edu	37	20	18522950	18522950	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:18522950C>A	ENST00000336714.3	+	13	1847	c.1415C>A	c.(1414-1416)cCg>cAg	p.P472Q	SEC23B_ENST00000377465.1_Missense_Mutation_p.P472Q|SEC23B_ENST00000262544.2_Missense_Mutation_p.P472Q|SEC23B_ENST00000377475.3_Missense_Mutation_p.P472Q	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	472					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CACAACACCCCGATCCCCCAA	0.532													5	233	---	---	---	---	0	0
PAX1	5075	broad.mit.edu	37	20	21687334	21687334	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:21687334G>T	ENST00000398485.2	+	2	599	c.545G>T	c.(544-546)cGg>cTg	p.R182L	PAX1_ENST00000444366.2_Missense_Mutation_p.R158L|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	182	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AAGCACATCCGGGACTACAAG	0.637													5	107	---	---	---	---	0	0
FRG1B	0	broad.mit.edu	37	20	29628246	29628246	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:29628246C>A	ENST00000278882.3	+	6	628	c.248C>A	c.(247-249)gCc>gAc	p.A83D	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCTTTGTTGGCCTCAAATAGC	0.353													6	99	---	---	---	---	0	0
MOCS3	27304	broad.mit.edu	37	20	49576642	49576642	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:49576642C>A	ENST00000244051.1	+	1	1280	c.1263C>A	c.(1261-1263)gcC>gcA	p.A421A		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	421	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CACAGAAAGCCGTGAAGATCC	0.498													5	141	---	---	---	---	0	0
NFATC2	4773	broad.mit.edu	37	20	50140226	50140226	+	Missense_Mutation	SNP	G	G	T	rs148866792		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:50140226G>T	ENST00000371564.3	-	2	773	c.554C>A	c.(553-555)cCc>cAc	p.P185H	NFATC2_ENST00000414705.1_Missense_Mutation_p.P165H|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000396009.3_Missense_Mutation_p.P185H|NFATC2_ENST00000609943.1_Missense_Mutation_p.P165H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	185	3 X approximate SP repeats.|Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGAGGTGTAGGGGGAGAAGGT	0.632													5	59	---	---	---	---	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594048	61594048	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:61594048C>A	ENST00000370349.3	+	6	756	c.552C>A	c.(550-552)tcC>tcA	p.S184S	SLC17A9_ENST00000370351.4_Silent_p.S190S|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	190					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTATTTCTCCGGCGGCCTCA	0.637													6	170	---	---	---	---	0	0
MYT1	4661	broad.mit.edu	37	20	62839624	62839624	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:62839624C>A	ENST00000536311.1	+	7	1439	c.1075C>A	c.(1075-1077)Cgg>Agg	p.R359R	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.R359R			Q01538	MYT1_HUMAN	myelin transcription factor 1	359					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R359W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACCCACTCCCGGAAGTCAAC	0.602													5	89	---	---	---	---	0	0
LTN1	26046	broad.mit.edu	37	21	30318243	30318243	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:30318243C>A	ENST00000389194.2	-	21	3797	c.3792G>T	c.(3790-3792)ctG>ctT	p.L1264L	LTN1_ENST00000361371.5_Silent_p.L1218L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1218							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TATTTACACCCAGTACCTCTG	0.353													5	74	---	---	---	---	0	0
TMPRSS2	0	broad.mit.edu	37	21	42839793	42839793	+	Silent	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:42839793C>T	ENST00000398585.3	-	13	1506	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L	TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000332149.5_Silent_p.L445L	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	445	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCGAAGTGACCAGAGGCCCTC	0.532			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								8	78	---	---	---	---	0	0
PWP2	5822	broad.mit.edu	37	21	45535158	45535158	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:45535158G>T	ENST00000291576.7	+	6	611	c.484G>T	c.(484-486)Ggg>Tgg	p.G162W		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	162						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CTTTGTGGTTGGGAGCAAAGA	0.587													6	173	---	---	---	---	0	0
AP1B1	162	broad.mit.edu	37	22	29727447	29727447	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:29727447C>A	ENST00000357586.2	-	19	2701	c.2515G>T	c.(2515-2517)Ggg>Tgg	p.G839W	AP1B1_ENST00000402502.1_Missense_Mutation_p.G832W|AP1B1_ENST00000415447.1_Missense_Mutation_p.G832W|AP1B1_ENST00000317368.7_Missense_Mutation_p.G812W|AP1B1_ENST00000356015.2_Missense_Mutation_p.G832W|AP1B1_ENST00000405198.1_Missense_Mutation_p.G839W|AP1B1_ENST00000432560.2_Missense_Mutation_p.G832W|AP1B1_ENST00000472057.1_5'UTR	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	839					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCCATCTTCCCGTCCTCCACA	0.577													6	202	---	---	---	---	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661213	35661213	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:35661213C>A	ENST00000216106.5	+	5	960	c.832C>A	c.(832-834)Cac>Aac	p.H278N	HMGXB4_ENST00000444518.2_Missense_Mutation_p.H169N	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	278					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGCAGAGTCCCACAGTGCTAA	0.517													5	65	---	---	---	---	0	0
MIEF1	54471	broad.mit.edu	37	22	39910032	39910032	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:39910032A>T	ENST00000325301.2	+	6	1520	c.1096A>T	c.(1096-1098)Atc>Ttc	p.I366F	MIEF1_ENST00000402881.1_Missense_Mutation_p.I366F|MIEF1_ENST00000404569.1_Missense_Mutation_p.I366F	NM_019008.4	NP_061881.2			mitochondrial elongation factor 1	366																	GTGCCTCAAGATCCTCAAGGC	0.642											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	74	---	---	---	---	0	0
SULT4A1	25830	broad.mit.edu	37	22	44258260	44258260	+	Translation_Start_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:44258260C>A	ENST00000330884.4	-	1	123	c.3G>T	c.(1-3)atG>atT	p.M1I	SULT4A1_ENST00000249130.5_Start_Codon_SNP_p.M1I|SULT4A1_ENST00000540422.1_Start_Codon_SNP_p.M1I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	1					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGCTCTCCGCCATgccgccgc	0.791													5	52	---	---	---	---	0	0
SBF1	6305	broad.mit.edu	37	22	50905973	50905973	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:50905973C>A	ENST00000380817.3	-	4	609	c.426G>T	c.(424-426)acG>acT	p.T142T	SBF1_ENST00000348911.6_Silent_p.T143T|SBF1_ENST00000390679.3_Silent_p.T142T	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGAACACCTCCGTGTGGTCGA	0.657													5	116	---	---	---	---	0	0
SHOX	6473	broad.mit.edu	37	X	591826	591826	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:591826A>T	ENST00000381578.1	+	2	885	c.194A>T	c.(193-195)cAc>cTc	p.H65L	SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000554971.1_Missense_Mutation_p.H65L	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	65					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGGCGGCCACTGCCCGGTG	0.587													22	141	---	---	---	---	0	0
SYTL4	94121	broad.mit.edu	37	X	99956498	99956498	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:99956498C>A	ENST00000372981.1	-	3	468	c.282G>T	c.(280-282)caG>caT	p.Q94H	SYTL4_ENST00000454200.2_Missense_Mutation_p.Q94H|SYTL4_ENST00000455616.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000263033.5_Missense_Mutation_p.Q94H|SYTL4_ENST00000372989.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q94H			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	94	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATTGCTTTCCTGTATGCGGC	0.582													6	81	---	---	---	---	0	0
6-Sep	23157	broad.mit.edu	37	X	118767429	118767429	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:118767429C>A	ENST00000394610.1	-	8	1247	c.983G>T	c.(982-984)aGg>aTg	p.R328M	SEPT6_ENST00000354416.3_Missense_Mutation_p.R328M|SEPT6_ENST00000394617.2_Missense_Mutation_p.R358M|SEPT6_ENST00000394616.4_Missense_Mutation_p.R270M|SEPT6_ENST00000360156.7_Missense_Mutation_p.R328M|SEPT6_ENST00000343984.5_Missense_Mutation_p.R328M|SEPT6_ENST00000354228.4_Missense_Mutation_p.R328M|SEPT6_ENST00000489216.1_Missense_Mutation_p.R328M	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	328					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GAACTCGTTCCTTTTGGCCTC	0.448			T	MLL	AML								6	208	---	---	---	---	0	0
BRS3	680	broad.mit.edu	37	X	135572582	135572582	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:135572582G>A	ENST00000370648.3	+	2	953	c.725G>A	c.(724-726)aGg>aAg	p.R242K		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	242					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGATTGCTAGGACCCTTTAC	0.388													13	20	---	---	---	---	0	0
TREX2	11219	broad.mit.edu	37	X	152713231	152713231	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:152713231G>T	ENST00000334497.2	-	10	1211	c.70C>A	c.(70-72)Cgt>Agt	p.R24S	TREX2_ENST00000414588.1_Silent_p.A7A|TREX2_ENST00000370232.1_Missense_Mutation_p.R24S|TREX2_ENST00000402951.1_Missense_Mutation_p.R24S|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000393862.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370211.4_3'UTR|TREX2_ENST00000338525.2_5'UTR			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	24					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGCAACGGCTTCTGCTG	0.587								Editing and processing nucleases					6	184	---	---	---	---	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978662	41978662	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:41978662G>A	ENST00000372584.1	-	7	7244	c.6230C>T	c.(6229-6231)gCc>gTc	p.A2077V	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2077	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGTGACTCGGCCTGACCTGG	0.687													3	43	---	---	---	---	0	0
KIRREL	55243	broad.mit.edu	37	1	158057909	158057909	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:158057909G>T	ENST00000368172.1	+	3	287	c.275G>T	c.(274-276)gGa>gTa	p.G92V	KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000359209.6_Missense_Mutation_p.G294V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	294	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AACAAAGTGGGAAGCACCAAT	0.522											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	253	---	---	---	---	0	0
CAMKMT	79823	broad.mit.edu	37	2	44933479	44933479	+	Splice_Site	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr2:44933479T>G	ENST00000378494.3	+	5	535	c.491T>G	c.(490-492)aTg>aGg	p.M164R		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	164						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						GCTGGGCTCATGGTAGGTCTT	0.483													5	155	---	---	---	---	0	0
CLIC1	1192	broad.mit.edu	37	6	31701956	31701956	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr6:31701956T>G	ENST00000375780.2	-	3	696	c.124A>C	c.(124-126)Aat>Cat	p.N42H	CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H|CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H			O00299	CLIC1_HUMAN	chloride intracellular channel 1	42	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GTGGTAACATTGAAGGTGACT	0.517													3	63	---	---	---	---	0	0
RFX6	222546	broad.mit.edu	37	6	117248236	117248236	+	Silent	SNP	C	C	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr6:117248236C>A	ENST00000332958.2	+	17	1948	c.1932C>A	c.(1930-1932)ccC>ccA	p.P644P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	644					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGACACCACCCATTTCTCCAG	0.488													5	182	---	---	---	---	0	0
PPP3CC	5533	broad.mit.edu	37	8	22368644	22368644	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr8:22368644C>A	ENST00000240139.5	+	5	857	c.530C>A	c.(529-531)aCa>aAa	p.T177K	PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	177					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTATGGAGACATTTGACTGT	0.383													5	122	---	---	---	---	0	0
NUDT2	318	broad.mit.edu	37	9	34343327	34343327	+	Silent	SNP	C	C	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr9:34343327C>T	ENST00000379158.2	+	5	691	c.333C>T	c.(331-333)caC>caT	p.H111H	NUDT2_ENST00000379155.5_Silent_p.H111H|NUDT2_ENST00000346365.4_Silent_p.H111H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	111	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCCATGAGCACCAAGCCTACC	0.557													4	94	---	---	---	---	0	0
HIF1AN	55662	broad.mit.edu	37	10	102306905	102306905	+	Silent	SNP	C	C	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr10:102306905C>A	ENST00000299163.6	+	7	1003	c.903C>A	c.(901-903)ccC>ccA	p.P301P		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor		Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		AGGGGGCTCCCACCCCTAAGA	0.478													3	28	---	---	---	---	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536505	5536505	+	Silent	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr11:5536505G>T	ENST00000380184.1	-	1	1430	c.1167C>A	c.(1165-1167)acC>acA	p.T389T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	389										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GAAGCTGCTGGGTAAGCTCTA	0.502													5	159	---	---	---	---	0	0
MGAT5B	146664	broad.mit.edu	37	17	74900388	74900388	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr17:74900388G>T	ENST00000569840.2	+	6	1148	c.574G>T	c.(574-576)Ggc>Tgc	p.G192C	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G203C|MGAT5B_ENST00000301618.4_Missense_Mutation_p.G192C	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	192						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGGGTGGACGGCACCGAGTG	0.682													3	17	---	---	---	---	0	0
IL2RB	0	broad.mit.edu	37	22	37524348	37524348	+	Silent	SNP	G	G	A			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr22:37524348G>A	ENST00000216223.5	-	10	1642	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	482					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAATCCACCAGGTCTGGGACT	0.662													5	73	---	---	---	---	0	0
TIE1	7075	broad.mit.edu	37	1	43783609	43783609	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:43783609C>T	ENST00000372476.3	+	17	2867	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W	TIE1_ENST00000433781.2_Missense_Mutation_p.R575W|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	930	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R930W(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGATTTTCTGCGGAAAAGCCG	0.527													28	298	---	---	---	---	0	0
ETV3L	440695	broad.mit.edu	37	1	157069117	157069117	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:157069117G>T	ENST00000454449.2	-	2	396	c.112C>A	c.(112-114)Cag>Aag	p.Q38K		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q38K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				AGCTGGATCTGCCGGGAGCCT	0.617													3	56	---	---	---	---	0	0
ZNF678	339500	broad.mit.edu	37	1	227842075	227842075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:227842075C>T	ENST00000343776.5	+	4	469	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	ZNF678_ENST00000608949.1_Nonsense_Mutation_p.Q42*|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.Q97*	NM_178549.3	NP_848644.2	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.Q42*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TTTGCCAGAGCAGGATATGAA	0.333													11	134	---	---	---	---	0	0
LPIN1	23175	broad.mit.edu	37	2	11943067	11943067	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:11943067C>T	ENST00000256720.2	+	14	1906	c.1813C>T	c.(1813-1815)Cgc>Tgc	p.R605C	LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C|LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C|LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	605					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.R605C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGATGAGGAGCGCGCAGCTGC	0.498													19	172	---	---	---	---	0	0
SNRNP27	11017	broad.mit.edu	37	2	70130361	70130361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:70130361C>T	ENST00000244227.3	+	5	822	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	SNRNP27_ENST00000409116.1_Intron|SNRNP27_ENST00000488986.1_3'UTR	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	133					mRNA processing|RNA splicing	nucleus	nucleic acid binding	p.Q133*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGTCTCTCAGAAGAGGAA	0.328													10	117	---	---	---	---	0	0
ABCF3	55324	broad.mit.edu	37	3	183908945	183908945	+	Missense_Mutation	SNP	A	A	C	rs140615216		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr3:183908945A>C	ENST00000429586.2	+	16	1656	c.1471A>C	c.(1471-1473)Att>Ctt	p.I491L	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.I485L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	491							ATP binding|ATPase activity	p.I491L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCGCCGCCAATTCTGCAGCT	0.557													8	119	---	---	---	---	0	0
MSH3	4437	broad.mit.edu	37	5	79952234	79952234	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr5:79952234C>A	ENST00000265081.6	+	2	322	c.242C>A	c.(241-243)aCa>aAa	p.T81K		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	81	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	p.T81K(1)|p.T72K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATATAGGCTACAGAAATTGAC	0.388								Mismatch excision repair (MMR)					10	140	---	---	---	---	0	0
HLA-F	3134	broad.mit.edu	37	6	29694720	29694720	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr6:29694720G>A	ENST00000440587.2	+	6	1069	c.710G>A	c.(709-711)gGg>gAg	p.G237E	HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	p.G366E(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TTTCTCCTGGGGGTGCTCTTC	0.498													11	132	---	---	---	---	0	0
CEP85L	387119	broad.mit.edu	37	6	118790443	118790443	+	Silent	SNP	T	T	G			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr6:118790443T>G	ENST00000368491.3	-	12	2667	c.2046A>C	c.(2044-2046)acA>acC	p.T682T	CEP85L_ENST00000368488.5_Silent_p.T685T	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	682						centrosome		p.T682T(1)									ATAAAGAGCATGTCTCATCTG	0.413													10	123	---	---	---	---	0	0
GSDMD	79792	broad.mit.edu	37	8	144643931	144643931	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr8:144643931C>A	ENST00000526406.1	+	10	1639	c.756C>A	c.(754-756)agC>agA	p.S252R	GSDMD_ENST00000533063.1_Missense_Mutation_p.S300R|GSDMD_ENST00000262580.4_Missense_Mutation_p.S252R	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	252								p.S252R(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GTTCCACGAGCGAAGGCGCCT	0.672													3	15	---	---	---	---	0	0
LHX3	8022	broad.mit.edu	37	9	139091593	139091593	+	Missense_Mutation	SNP	C	C	A	rs142521088		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr9:139091593C>A	ENST00000371746.3	-	3	518	c.400G>T	c.(400-402)Gac>Tac	p.D134Y	LHX3_ENST00000371748.5_Missense_Mutation_p.D129Y	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	129	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D134Y(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TAGAACTCGTCGCCCGTGGCC	0.672													9	38	---	---	---	---	0	0
WT1-AS	0	broad.mit.edu	37	11	32460593	32460593	+	RNA	SNP	T	T	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr11:32460593T>C	ENST00000395900.1	+	0	1471				WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000426618.2_RNA	NR_023920.1													p.C56R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						ACCCCGGCGCTGTCCACTGCA	0.617													3	54	---	---	---	---	0	0
NTM	50863	broad.mit.edu	37	11	132081914	132081914	+	Splice_Site	SNP	A	A	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr11:132081914A>C	ENST00000374786.1	+	3	879		c.e3-1		NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000474900.1_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000427481.2_Splice_Site	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.?(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTGTTTCCACAGTATCTCCCA	0.383													4	35	---	---	---	---	0	0
CHD4	1108	broad.mit.edu	37	12	6686950	6686950	+	Splice_Site	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:6686950C>T	ENST00000309577.6	-	36	5609		c.e36+1		CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.?(3)		central_nervous_system(2)	2						CAACCGCTCACCTTAAACCTT	0.463													4	84	---	---	---	---	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19511256	19511256	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:19511256A>G	ENST00000538714.1	+	23	2913	c.2909A>G	c.(2908-2910)cAt>cGt	p.H970R	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H970R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H670R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.H912R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H901R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H856R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	912				P -> S (in Ref. 6; BAA91742).			1-phosphatidylinositol binding|protein binding	p.H912R(2)|p.H1073R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATAAGAAGACATCAACAAGCG	0.433													4	36	---	---	---	---	0	0
PFKM	5213	broad.mit.edu	37	12	48533667	48533667	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:48533667T>C	ENST00000340802.6	+	15	1600	c.1376T>C	c.(1375-1377)cTa>cCa	p.L459P	PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000395233.2_Missense_Mutation_p.L357P|PFKM_ENST00000547587.1_Missense_Mutation_p.L388P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P|PFKM_ENST00000312352.7_Missense_Mutation_p.L388P	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	388					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	p.L388P(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACAAGCTTCTAGCTCATGTC	0.512													4	37	---	---	---	---	0	0
LRIG3	121227	broad.mit.edu	37	12	59282122	59282122	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:59282122C>G	ENST00000320743.3	-	7	1222	c.936G>C	c.(934-936)aaG>aaC	p.K312N	LRIG3_ENST00000379141.4_Missense_Mutation_p.K252N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	312						integral to membrane		p.K312N(2)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCTCACTGAGCTTCTGGCAGA	0.493			T	ROS1	NSCLC								8	77	---	---	---	---	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72036214	72036214	+	Splice_Site	SNP	A	A	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:72036214A>C	ENST00000378743.3	-	6	1986		c.e6+1			NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing						RNA processing	intracellular	metal ion binding	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGGCTCATACCTGGAGAAC	0.343													7	68	---	---	---	---	0	0
ANAPC5	51433	broad.mit.edu	37	12	121746472	121746472	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:121746472G>T	ENST00000261819.3	-	17	2200	c.2079C>A	c.(2077-2079)aaC>aaA	p.N693K	ANAPC5_ENST00000344395.4_Missense_Mutation_p.N581K|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000535482.1_Missense_Mutation_p.N359K	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	693					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.N693K(2)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTCATTGAGGTTCTCGATGG	0.453													7	103	---	---	---	---	0	0
COG3	83548	broad.mit.edu	37	13	46066301	46066301	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr13:46066301G>T	ENST00000349995.5	+	11	1215	c.1103G>T	c.(1102-1104)aGt>aTt	p.S368I	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	368					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	p.S368I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CAGGTTCGTAGTGGCTGTGCC	0.383													3	34	---	---	---	---	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42446634	42446634	+	Silent	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr15:42446634C>T	ENST00000397272.3	-	3	298	c.207G>A	c.(205-207)gtG>gtA	p.V69V	PLA2G4F_ENST00000382396.4_Silent_p.V69V	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	69	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.V69V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCCACAGTTGCACATAGCAGT	0.597													5	32	---	---	---	---	0	0
USH1G	124590	broad.mit.edu	37	17	72915904	72915904	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr17:72915904G>A	ENST00000319642.1	-	2	1209	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	343					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		p.R343W(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCCGACCCCGCGGCGCTCCC	0.687													4	84	---	---	---	---	0	0
DNAH17	8632	broad.mit.edu	37	17	76459153	76459153	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr17:76459153C>T	ENST00000389840.5	-	57	9029	c.8905G>A	c.(8905-8907)Gtc>Atc	p.V2969I	DNAH17_ENST00000585328.1_Missense_Mutation_p.V2978I|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17									p.V2978I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGGCCTTGACTTCCCACTAC	0.562													3	27	---	---	---	---	0	0
PSG1	0	broad.mit.edu	37	19	43372318	43372318	+	Missense_Mutation	SNP	A	A	G	rs1058795		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr19:43372318A>G	ENST00000244296.2	-	5	1315	c.1178T>C	c.(1177-1179)gTt>gCt	p.V393A	PSG1_ENST00000436291.2_Missense_Mutation_p.V393A|PSG1_ENST00000403380.3_Missense_Mutation_p.V300A|PSG1_ENST00000595356.1_Missense_Mutation_p.V393A|PSG1_ENST00000595124.1_Missense_Mutation_p.V300A|PSG1_ENST00000312439.6_Missense_Mutation_p.V393A	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AACAGAGCAAACATAGAGCCC	0.458													6	242	---	---	---	---	0	0
LILRA4	23547	broad.mit.edu	37	19	54849889	54849889	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr19:54849889C>T	ENST00000291759.4	-	3	189	c.133G>A	c.(133-135)Gtg>Atg	p.V45M		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	45	Ig-like C2-type 1.					integral to membrane	receptor activity	p.V45M(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CAGATGGTCACGGGGTTATGC	0.537											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	98	---	---	---	---	0	0
ZNF134	7693	broad.mit.edu	37	19	58132430	58132430	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr19:58132430C>T	ENST00000396161.5	+	3	1253	c.943C>T	c.(943-945)Cct>Tct	p.P315S		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	315						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P315S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGGAGAAAATCCTTATGATTG	0.418													4	104	---	---	---	---	0	0
GART	2618	broad.mit.edu	37	21	34903824	34903824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr21:34903824C>A	ENST00000381831.3	-	6	831	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	GART_ENST00000381815.4_Nonsense_Mutation_p.E190*|GART_ENST00000361093.5_Nonsense_Mutation_p.E190*|GART_ENST00000381839.3_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	190	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	p.E190*(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGAAGTTCTTCAATGACAATT	0.353													16	168	---	---	---	---	0	0
RHOC	389	broad.mit.edu	37	1	113245708	113245708	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:113245708C>T	ENST00000285735.2	-	4	1399	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	RHOC_ENST00000369638.2_Missense_Mutation_p.E64K|RHOC_ENST00000369642.3_Missense_Mutation_p.E64K|RHOC_ENST00000369636.2_Missense_Mutation_p.E64K|RHOC_ENST00000369637.1_Missense_Mutation_p.E64K|RHOC_ENST00000369632.2_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000471038.2_5'UTR|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G227E|RHOC_ENST00000369633.2_Missense_Mutation_p.E64K|RHOC_ENST00000339083.7_Missense_Mutation_p.E64K			P08134	RHOC_HUMAN	ras homolog family member C	64					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATAGTCTTCCTGCCCTGCT	0.612													9	46	---	---	---	---	0	0
KIAA0907	22889	broad.mit.edu	37	1	155891693	155891693	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:155891693G>C	ENST00000368320.3	-	9	996	c.971C>G	c.(970-972)tCt>tGt	p.S324C	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S324C|KIAA0907_ENST00000368321.3_Missense_Mutation_p.S324C			Q7Z7F0	K0907_HUMAN	KIAA0907	324										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CACAAATCTAGAGTATTCAGC	0.363													9	24	---	---	---	---	0	0
KCNT2	343450	broad.mit.edu	37	1	196285089	196285089	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:196285089T>A	ENST00000367433.5	-	20	2445	c.2344A>T	c.(2344-2346)Acc>Tcc	p.T782S	KCNT2_ENST00000609185.1_Missense_Mutation_p.T732S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.T806S|KCNT2_ENST00000367431.4_Missense_Mutation_p.T732S|KCNT2_ENST00000451324.2_3'UTR	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	806						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCACTCATGGTGCTCTCTTTA	0.433													14	23	---	---	---	---	0	0
KCNT2	343450	broad.mit.edu	37	1	196398768	196398768	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:196398768C>A	ENST00000367433.5	-	9	859	c.758G>T	c.(757-759)tGg>tTg	p.W253L	KCNT2_ENST00000609185.1_Missense_Mutation_p.W253L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.W253L|KCNT2_ENST00000367431.4_Missense_Mutation_p.W253L|KCNT2_ENST00000451324.2_Intron	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	253						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTGGAGGACCATGTTTCAGG	0.408													15	28	---	---	---	---	0	0
IL20	50604	broad.mit.edu	37	1	207040805	207040805	+	Splice_Site	SNP	T	T	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:207040805T>C	ENST00000367098.1	+	5	816		c.e5+2		IL20_ENST00000367096.3_Splice_Site|IL20_ENST00000391930.2_Intron			Q9NYY1	IL20_HUMAN	interleukin 20						positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TTTGAAAAGGTATATGCGACT	0.428													3	70	---	---	---	---	0	0
TCF7L1	83439	broad.mit.edu	37	2	85533435	85533435	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr2:85533435G>A	ENST00000282111.3	+	9	1371	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	366					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CAAGGTGGTGGCTGAGTGCAC	0.542													11	72	---	---	---	---	0	0
TLK1	9874	broad.mit.edu	37	2	171862744	171862744	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr2:171862744G>T	ENST00000442919.2	-	18	2288	c.1673C>A	c.(1672-1674)aCt>aAt	p.T558N	TLK1_ENST00000431350.2_Missense_Mutation_p.T606N|TLK1_ENST00000360843.3_Missense_Mutation_p.T627N|TLK1_ENST00000434911.2_Missense_Mutation_p.T510N|TLK1_ENST00000521943.1_Missense_Mutation_p.T558N	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	606	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACCAAAATCAGTGATTTTGAT	0.363													6	59	---	---	---	---	0	0
STK25	10494	broad.mit.edu	37	2	242438194	242438194	+	Silent	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr2:242438194G>T	ENST00000316586.4	-	8	1126	c.777C>A	c.(775-777)ccC>ccA	p.P259P	STK25_ENST00000405883.3_Silent_p.P182P|STK25_ENST00000405585.1_Silent_p.P182P|STK25_ENST00000401869.1_Silent_p.P259P|STK25_ENST00000543554.1_Silent_p.P165P|STK25_ENST00000403346.3_Silent_p.P259P|STK25_ENST00000535007.1_Silent_p.P165P|STK25_ENST00000478403.1_5'UTR	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	259	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CCTTGGCCGTGGGCCGCTGCA	0.617													4	122	---	---	---	---	0	0
SACM1L	22908	broad.mit.edu	37	3	45776852	45776852	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:45776852A>G	ENST00000389061.5	+	14	1430	c.1226A>G	c.(1225-1227)cAg>cGg	p.Q409R	SACM1L_ENST00000541314.1_Missense_Mutation_p.Q348R|SACM1L_ENST00000418611.1_Missense_Mutation_p.Q306R	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	409	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CGTTCACTTCAGGCCCAACTT	0.383													3	80	---	---	---	---	0	0
DHX30	22907	broad.mit.edu	37	3	47884611	47884611	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:47884611C>G	ENST00000446256.2	+	10	1260	c.688C>G	c.(688-690)Cat>Gat	p.H230D	DHX30_ENST00000348968.4_Missense_Mutation_p.H241D|DHX30_ENST00000445061.1_Missense_Mutation_p.H269D|DHX30_ENST00000457607.1_Missense_Mutation_p.H297D	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	269						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CATGCAGTTCCATACTGTGGG	0.537													56	143	---	---	---	---	0	0
ARL6	84100	broad.mit.edu	37	3	97499479	97499479	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:97499479A>G	ENST00000463745.1	+	4	683	c.206A>G	c.(205-207)gAc>gGc	p.D69G	ARL6_ENST00000335979.2_Missense_Mutation_p.D69G|ARL6_ENST00000394206.1_Missense_Mutation_p.D69G|ARL6_ENST00000496713.1_3'UTR	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	69					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		ACAGTGTTTGACATGTCAGGT	0.269													3	85	---	---	---	---	0	0
GK5	256356	broad.mit.edu	37	3	141896383	141896383	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:141896383C>A	ENST00000392993.2	-	12	1235	c.1084G>T	c.(1084-1086)Gcc>Tcc	p.A362S		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	362					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						AAACTTTTGGCCATTTTTTCA	0.333													13	107	---	---	---	---	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107489	6107489	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr4:6107489C>T	ENST00000409021.3	-	3	784	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R112Q	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	112	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCCTGCAGCCGCTGCAGCTC	0.716													6	23	---	---	---	---	0	0
IRX2	153572	broad.mit.edu	37	5	2747711	2747711	+	Silent	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr5:2747711G>T	ENST00000382611.6	-	4	1631	c.1383C>A	c.(1381-1383)acC>acA	p.T461T	IRX2_ENST00000302057.5_Silent_p.T461T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	461						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGCCAACCACGGTGCAGCCCT	0.652													4	71	---	---	---	---	0	0
PPIC	5480	broad.mit.edu	37	5	122361577	122361577	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr5:122361577C>A	ENST00000306442.4	-	4	527	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	138	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	GTGTCAGGCCCAGCGTTGGCC	0.493													4	47	---	---	---	---	0	0
RNASET2	8635	broad.mit.edu	37	6	167343248	167343248	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr6:167343248T>G	ENST00000366855.6	-	10	1160	c.485A>C	c.(484-486)gAa>gCa	p.E162A	RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000508775.1_Missense_Mutation_p.E200A|RNASET2_ENST00000476238.2_Missense_Mutation_p.E200A			O00584	RNT2_HUMAN	ribonuclease T2	200					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		GAGGCACAGTTCTATCTGACC	0.493													4	161	---	---	---	---	0	0
PCLO	27445	broad.mit.edu	37	7	82544746	82544746	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:82544746G>T	ENST00000333891.9	-	7	12893	c.12556C>A	c.(12556-12558)Caa>Aaa	p.Q4186K	PCLO_ENST00000423517.2_Missense_Mutation_p.Q4186K|PCLO_ENST00000437081.1_Missense_Mutation_p.Q906K	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACTGCTTTTGATAAAGTATG	0.353													4	98	---	---	---	---	0	0
AKAP9	10142	broad.mit.edu	37	7	91621525	91621525	+	Splice_Site	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:91621525G>T	ENST00000359028.2	+	5	666	c.441G>T	c.(439-441)agG>agT	p.R147S	AKAP9_ENST00000358100.2_Splice_Site_p.R147S|AKAP9_ENST00000394564.1_Splice_Site_p.R135S|AKAP9_ENST00000356239.3_Splice_Site_p.R135S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	147					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTTATTAAGGGTACAGTATT	0.294			T	BRAF	papillary thyroid								16	128	---	---	---	---	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117400554	117400554	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:117400554G>T	ENST00000160373.3	-	10	3198	c.3107C>A	c.(3106-3108)aCt>aAt	p.T1036N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1036										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTTATTGCAAGTCACGTCTTC	0.453													51	78	---	---	---	---	0	0
NUDCD1	84955	broad.mit.edu	37	8	110308624	110308624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr8:110308624C>A	ENST00000239690.4	-	3	822	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	NUDCD1_ENST00000427660.2_Nonsense_Mutation_p.E121*	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	150										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TCCCATTTTTCAGAAGCGCTA	0.388													4	118	---	---	---	---	0	0
FAM135B	51059	broad.mit.edu	37	8	139209802	139209802	+	Silent	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr8:139209802C>T	ENST00000395297.1	-	8	950	c.780G>A	c.(778-780)ctG>ctA	p.L260L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	260										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGATCACCAGGAAGTGGA	0.617										HNSCC(54;0.14)			14	69	---	---	---	---	0	0
FOCAD	54914	broad.mit.edu	37	9	20978420	20978420	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr9:20978420G>C	ENST00000380249.1	+	39	4708	c.4344G>C	c.(4342-4344)ttG>ttC	p.L1448F	FOCAD_ENST00000338382.6_Missense_Mutation_p.L1448F|FOCAD_ENST00000605086.1_Missense_Mutation_p.L884F	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1448						integral to membrane	binding										TATTGGGCTTGTGGGTGACAC	0.458													9	26	---	---	---	---	0	0
HRAS	3265	broad.mit.edu	37	11	533476	533476	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:533476C>T	ENST00000417302.1	-	4	614	c.427G>A	c.(427-429)Gag>Aag	p.E143K	HRAS_ENST00000397596.2_Missense_Mutation_p.E143K|HRAS_ENST00000451590.1_Missense_Mutation_p.E143K|HRAS_ENST00000397594.1_Missense_Mutation_p.E143K|HRAS_ENST00000311189.7_Missense_Mutation_p.E143K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	143					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCGAGGTCTCGATGTAGGGG	0.677		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			24	127	---	---	---	---	0	0
PIDD	55367	broad.mit.edu	37	11	803450	803450	+	Silent	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:803450G>A	ENST00000347755.5	-	3	574	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L145L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	145					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CGCATCTGCAGGACACAGGCC	0.657													4	85	---	---	---	---	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137867	63137867	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:63137867G>T	ENST00000279178.3	+	1	588	c.339G>T	c.(337-339)atG>atT	p.M113I	SLC22A9_ENST00000310969.4_Missense_Mutation_p.M113I	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	113					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACGCAGACATGGAGCCCTGTG	0.522													4	102	---	---	---	---	0	0
SYT12	91683	broad.mit.edu	37	11	66812168	66812168	+	Silent	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:66812168C>T	ENST00000393946.2	+	9	2104	c.942C>T	c.(940-942)aaC>aaT	p.N314N	SYT12_ENST00000527043.1_Silent_p.N314N|SYT12_ENST00000525457.1_Silent_p.N314N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	314	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TCTGGACCAACGACAAGACCA	0.657													26	67	---	---	---	---	0	0
TRPC6	7225	broad.mit.edu	37	11	101375336	101375336	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:101375336G>T	ENST00000344327.3	-	2	788	c.364C>A	c.(364-366)Cac>Aac	p.H122N	TRPC6_ENST00000348423.4_Missense_Mutation_p.H122N|TRPC6_ENST00000360497.4_Missense_Mutation_p.H122N|TRPC6_ENST00000532133.1_Missense_Mutation_p.H122N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	122					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGAGTGAGTGGCATTCTTCT	0.458													4	116	---	---	---	---	0	0
MAP3K12	7786	broad.mit.edu	37	12	53878999	53878999	+	Splice_Site	SNP	C	C	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:53878999C>G	ENST00000267079.2	-	7	1107		c.e7-1		MAP3K12_ENST00000547488.1_Splice_Site|MAP3K12_ENST00000547035.1_Splice_Site	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GCCAAAGGACCTAGGGATGAG	0.542													23	50	---	---	---	---	0	0
SHMT2	6472	broad.mit.edu	37	12	57626237	57626237	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:57626237C>T	ENST00000393827.4	+	5	564	c.308C>T	c.(307-309)cCc>cTc	p.P103L	SHMT2_ENST00000414700.3_Splice_Site_p.P178L|SHMT2_ENST00000449049.3_Splice_Site_p.P178L|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000553474.1_Splice_Site_p.P178L|SHMT2_ENST00000328923.3_Splice_Site_p.P199L			P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	199						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCTGTCCAGCCCAAAACTGGC	0.587													43	105	---	---	---	---	0	0
PTPRB	0	broad.mit.edu	37	12	70974869	70974869	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:70974869G>T	ENST00000334414.6	-	10	2569	c.2525C>A	c.(2524-2526)aCa>aAa	p.T842K	PTPRB_ENST00000451516.2_Missense_Mutation_p.T534K|PTPRB_ENST00000551525.1_Missense_Mutation_p.T841K|PTPRB_ENST00000550857.1_Missense_Mutation_p.T534K|PTPRB_ENST00000261266.5_Missense_Mutation_p.T624K|PTPRB_ENST00000550358.1_Missense_Mutation_p.T842K|PTPRB_ENST00000538708.1_Missense_Mutation_p.T624K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	624	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTCACTGTTGTTACCACCAC	0.463													4	137	---	---	---	---	0	0
CLYBL	171425	broad.mit.edu	37	13	100518573	100518573	+	Silent	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr13:100518573C>A	ENST00000376355.3	+	5	643	c.612C>A	c.(610-612)ctC>ctA	p.L204L	CLYBL_ENST00000339105.4_Silent_p.L238L|CLYBL_ENST00000444838.2_Silent_p.L204L|CLYBL_ENST00000376354.1_Silent_p.L204L|CLYBL_ENST00000376360.1_Silent_p.L238L	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	238					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTTGGTCTCCAAGCCATAG	0.478													28	62	---	---	---	---	0	0
LOXL1	4016	broad.mit.edu	37	15	74219535	74219535	+	Silent	SNP	G	G	C			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr15:74219535G>C	ENST00000261921.7	+	1	737	c.411G>C	c.(409-411)acG>acC	p.T137T	LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	137					protein deamination	extracellular space	copper ion binding	p.T137T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGGACAGCACGGGCATGGCCC	0.751													3	56	---	---	---	---	0	0
RP11-114H24.2	0	broad.mit.edu	37	15	78217290	78217290	+	RNA	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr15:78217290G>A	ENST00000567226.1	-	0	212																											CCCCAGGTGAGTGGCAACCAC	0.527													6	102	---	---	---	---	0	0
KIAA1199	57214	broad.mit.edu	37	15	81221373	81221373	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr15:81221373C>A	ENST00000394685.3	+	21	2889	c.2470C>A	c.(2470-2472)Ccg>Acg	p.P824T	KIAA1199_ENST00000356249.5_Missense_Mutation_p.P824T|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P824T			Q8WUJ3	K1199_HUMAN	KIAA1199	824										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGAACCTTCCCGTATGACGA	0.517													4	71	---	---	---	---	0	0
ADCY7	113	broad.mit.edu	37	16	50327346	50327346	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr16:50327346G>T	ENST00000394697.2	+	6	1109	c.769G>T	c.(769-771)Ggt>Tgt	p.G257C	ADCY7_ENST00000538642.1_Missense_Mutation_p.G257C|ADCY7_ENST00000537579.1_Missense_Mutation_p.G257C|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.G257C|ADCY7_ENST00000254235.3_Missense_Mutation_p.G257C			P51828	ADCY7_HUMAN	adenylate cyclase 7	257					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CAAGGAGCATGGTGACCGTCG	0.582													5	107	---	---	---	---	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46048774	46048774	+	Splice_Site	SNP	G	G	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr17:46048774G>T	ENST00000536708.2	+	2	236		c.e2+1		CDK5RAP3_ENST00000338399.4_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AAGCTGCTCGGTAGGAGGGGG	0.672													8	17	---	---	---	---	0	0
QTRT1	81890	broad.mit.edu	37	19	10812880	10812880	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:10812880A>G	ENST00000250237.5	+	3	411	c.401A>G	c.(400-402)aAt>aGt	p.N134S	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	134					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TACGACGGCAATGAGACCCTG	0.637													25	58	---	---	---	---	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38643547	38643547	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:38643547G>A	ENST00000222345.6	+	13	4110	c.3601G>A	c.(3601-3603)Ggc>Agc	p.G1201S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1201					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GACGTCCAGCGGCGACTCCTC	0.662													6	119	---	---	---	---	0	0
LUZP4	51213	broad.mit.edu	37	X	114541233	114541233	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chrX:114541233C>T	ENST00000371920.3	+	4	813	c.806C>T	c.(805-807)aCt>aTt	p.T269I	LUZP4_ENST00000451986.2_Missense_Mutation_p.T187I	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	269						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CTCATAGCCACTCAGAGAGAT	0.468													49	21	---	---	---	---	0	0
SZT2	23334	broad.mit.edu	37	1	43868961	43868961	+	Silent	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:43868961C>A	ENST00000562955.1	+	2	141	c.141C>A	c.(139-141)ccC>ccA	p.P47P	SZT2_ENST00000372450.4_Silent_p.P47P|SZT2_ENST00000310739.4_Silent_p.P47P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	47						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGGCCACACCCCAGGAGATGC	0.517													4	53	---	---	---	---	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45501859	45501859	+	Silent	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:45501859C>A	ENST00000359600.5	-	9	2212	c.2007G>T	c.(2005-2007)ctG>ctT	p.L669L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	669							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCTGTTGACCCAGGCCCATCA	0.577													4	75	---	---	---	---	0	0
MAST2	23139	broad.mit.edu	37	1	46493409	46493409	+	Silent	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:46493409A>T	ENST00000361297.2	+	17	2209	c.1926A>T	c.(1924-1926)ctA>ctT	p.L642L	MAST2_ENST00000372009.2_Silent_p.L572L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	642	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	p.L642L(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCAGCCTCCTAATTACATCCA	0.423													29	69	---	---	---	---	0	0
JAK1	3716	broad.mit.edu	37	1	65300335	65300335	+	Nonsense_Mutation	SNP	A	A	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:65300335A>C	ENST00000342505.4	-	25	3623	c.3375T>G	c.(3373-3375)taT>taG	p.Y1125*		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1125	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.Y1125*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCATAAGTTGATAAACCTGTA	0.303			Mis		ALL								3	66	---	---	---	---	0	0
JAK1	3716	broad.mit.edu	37	1	65301865	65301865	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:65301865A>C	ENST00000342505.4	-	23	3422	c.3174T>G	c.(3172-3174)ttT>ttG	p.F1058L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1058	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.F1058L(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGGCAATATAAAATTTAGATT	0.423			Mis		ALL								3	35	---	---	---	---	0	0
FMO1	2326	broad.mit.edu	37	1	171250000	171250000	+	Missense_Mutation	SNP	T	T	C	rs148980563	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:171250000T>C	ENST00000354841.4	+	5	834	c.703T>C	c.(703-705)Ttc>Ctc	p.F235L	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.F235L|FMO1_ENST00000402921.2_Missense_Mutation_p.F172L	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	235					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.F235L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGACATGGTGTTCATGACACG	0.493													18	61	---	---	---	---	0	0
FCAMR	83953	broad.mit.edu	37	1	207133044	207133044	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:207133044T>C	ENST00000324852.4	-	7	2027	c.1553A>G	c.(1552-1554)aAg>aGg	p.K518R	FCAMR_ENST00000450945.2_Missense_Mutation_p.S251G|FCAMR_ENST00000400962.3_Missense_Mutation_p.S251G|FCAMR_ENST00000486178.1_5'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	473						integral to membrane|plasma membrane	receptor activity	p.S251G(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCTCCAGAGCTTCCTTTGCAA	0.527													37	151	---	---	---	---	0	0
JMJD4	65094	broad.mit.edu	37	1	227920349	227920349	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:227920349T>G	ENST00000366758.3	-	6	1135	c.1136A>C	c.(1135-1137)aAc>aCc	p.N379T	JMJD4_ENST00000438896.2_Missense_Mutation_p.N363T|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	379								p.N379T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CTCTTCAAAGTTGATGCCCGA	0.572													8	36	---	---	---	---	0	0
AHCTF1	25909	broad.mit.edu	37	1	247014376	247014376	+	Silent	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:247014376G>C	ENST00000366508.1	-	33	5173	c.5037C>G	c.(5035-5037)gcC>gcG	p.A1679A	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.A1653A|AHCTF1_ENST00000391829.2_Silent_p.A1644A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1644	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.A1644A(1)|p.A1653A(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CACTAGTTACGGCAGATGGCA	0.363													7	164	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179537132	179537132	+	Splice_Site	SNP	A	A	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:179537132A>G	ENST00000589042.1	-	154	35155		c.e154+1		TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAAAAATACCTTTAGCTG	0.328													10	264	---	---	---	---	0	0
XRCC5	7520	broad.mit.edu	37	2	216986819	216986819	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:216986819G>T	ENST00000392133.3	+	8	987	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	XRCC5_ENST00000392132.2_Missense_Mutation_p.G176W			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	176					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AGATGGAAGTGGGGACAGAGG	0.438								Non-homologous end-joining					4	59	---	---	---	---	0	0
ANKRD28	23243	broad.mit.edu	37	3	15727591	15727591	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:15727591G>C	ENST00000399451.2	-	20	2364	c.1997C>G	c.(1996-1998)aCa>aGa	p.T666R	ANKRD28_ENST00000383777.1_Missense_Mutation_p.T699R|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	666						nucleoplasm	protein binding	p.T133R(1)|p.T699R(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACACAGTCTGTGTGCCCGTT	0.458													4	22	---	---	---	---	0	0
PARP14	54625	broad.mit.edu	37	3	122418827	122418827	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:122418827G>A	ENST00000474629.2	+	6	1692	c.1426G>A	c.(1426-1428)Ggc>Agc	p.G476S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.G313S(1)|p.G476S(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CATTTCTCCAGGCAGGTATTT	0.398													10	58	---	---	---	---	0	0
TBCK	93627	broad.mit.edu	37	4	107216263	107216263	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:107216263C>G	ENST00000273980.5	-	4	701	c.254G>C	c.(253-255)aGg>aCg	p.R85T	TBCK_ENST00000394708.2_Missense_Mutation_p.R85T|TBCK_ENST00000361687.4_Missense_Mutation_p.R85T|TBCK_ENST00000432496.2_Missense_Mutation_p.R85T|TBCK_ENST00000394706.3_Missense_Mutation_p.R85T			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Protein kinase.					intracellular	Rab GTPase activator activity	p.R85T(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CACAGGTTTCCTTTCTCGAAG	0.378													36	137	---	---	---	---	0	0
BBS12	166379	broad.mit.edu	37	4	123663744	123663744	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:123663744C>A	ENST00000542236.1	+	3	1078	c.697C>A	c.(697-699)Cac>Aac	p.H233N	BBS12_ENST00000314218.3_Missense_Mutation_p.H233N	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	233					cellular protein metabolic process	cilium	ATP binding	p.H233N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AATACTAATCCACAGTAGGCA	0.388									Bardet-Biedl syndrome				4	64	---	---	---	---	0	0
WWC2	80014	broad.mit.edu	37	4	184182184	184182184	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:184182184T>C	ENST00000403733.3	+	11	1607	c.1408T>C	c.(1408-1410)Tat>Cat	p.Y470H	WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H|WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H|WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	470	Ser-rich.							p.Y470H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CACCGAACTCTATTACAGCAG	0.502													3	55	---	---	---	---	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142513614	142513614	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr5:142513614C>A	ENST00000378004.3	+	19	2136	c.1781C>A	c.(1780-1782)cCg>cAg	p.P594Q	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.P594Q	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	594	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAAGCCCCCGTCCTGCAGC	0.557													5	172	---	---	---	---	0	0
RBM27	54439	broad.mit.edu	37	5	145641192	145641192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr5:145641192G>A	ENST00000265271.5	+	13	2179	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	671	RRM.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.W671*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCTTGTGGCATAGGGAAA	0.478													5	158	---	---	---	---	0	0
CPEB4	80315	broad.mit.edu	37	5	173317603	173317603	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr5:173317603G>T	ENST00000265085.5	+	1	2321	c.867G>T	c.(865-867)caG>caT	p.Q289H	CPEB4_ENST00000334035.5_Missense_Mutation_p.Q289H|CPEB4_ENST00000520867.1_Missense_Mutation_p.Q289H|CPEB4_ENST00000519835.1_Missense_Mutation_p.Q289H	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	289							nucleotide binding|RNA binding	p.Q289H(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCAGCTACCAGAGTCCGTCAC	0.577													7	227	---	---	---	---	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271452	26271452	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:26271452C>T	ENST00000305910.3	-	1	160	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	54					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.R54H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTCTGATAGCGGCGAATCTC	0.607													7	105	---	---	---	---	0	0
COL11A2	1302	broad.mit.edu	37	6	33139307	33139307	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:33139307C>A	ENST00000341947.2	-	43	3422	c.3195G>T	c.(3193-3195)caG>caT	p.Q1065H	COL11A2_ENST00000374712.1_Missense_Mutation_p.Q984H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q1044H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q958H|COL11A2_ENST00000374708.4_Missense_Mutation_p.Q979H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q1039H|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q1005H|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q1018H	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1065	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCACAGGACCCTGCACTCCAT	0.632													4	61	---	---	---	---	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927567	35927567	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:35927567C>A	ENST00000490799.1	-	15	2008	c.1655G>T	c.(1654-1656)gGg>gTg	p.G552V	SLC26A8_ENST00000355574.2_Missense_Mutation_p.G552V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.G447V	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	552	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GATTTTCACCCCAGGAATGGT	0.383													6	112	---	---	---	---	0	0
BAI3	577	broad.mit.edu	37	6	69758171	69758171	+	Silent	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:69758171C>T	ENST00000370598.1	+	14	3023	c.2202C>T	c.(2200-2202)aaC>aaT	p.N734N		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	734					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N734N(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGGCAAGAAACTCAGAAGATA	0.383													9	52	---	---	---	---	0	0
PPIL4	85313	broad.mit.edu	37	6	149826610	149826610	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:149826610T>C	ENST00000340881.2	-	3	889	c.356A>G	c.(355-357)aAg>aGg	p.K119R	PPIL4_ENST00000253329.2_Silent_p.K486K			Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	483	PPIase cyclophilin-type.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	p.K486K(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TAGATTTTTCTTTATCTTTGG	0.338													14	95	---	---	---	---	0	0
CLDN12	9069	broad.mit.edu	37	7	90042673	90042673	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:90042673C>T	ENST00000535571.1	+	2	992	c.683C>T	c.(682-684)tCt>tTt	p.S228F	CLDN12_ENST00000394605.2_Missense_Mutation_p.S228F|CLDN12_ENST00000287916.4_Missense_Mutation_p.S228F|CTB-13L3.1_ENST00000480135.1_RNA	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	228					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.S228F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						TCAGCACGCTCTCGCCTCTCT	0.423													40	145	---	---	---	---	0	0
PHF20L1	51105	broad.mit.edu	37	8	133844506	133844506	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr8:133844506C>A	ENST00000395386.2	+	15	2070	c.1771C>A	c.(1771-1773)Ctc>Atc	p.L591I	PHF20L1_ENST00000395390.2_Missense_Mutation_p.L566I|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	591							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGACAGTTCCCTCGAATTTTT	0.363													6	165	---	---	---	---	0	0
KLF4	9314	broad.mit.edu	37	9	110249346	110249346	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:110249346C>G	ENST00000374672.4	-	4	1700	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	443	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.K409N(1)|p.K400N(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GATGGGAACTCTTTGTGTAGG	0.592													12	192	---	---	---	---	0	0
AGPAT2	10555	broad.mit.edu	37	9	139581703	139581703	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:139581703A>T	ENST00000371696.2	-	1	172	c.107T>A	c.(106-108)cTg>cAg	p.L36Q	AGPAT2_ENST00000538402.1_Missense_Mutation_p.L36Q|AGPAT2_ENST00000371694.3_Missense_Mutation_p.L36Q	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	36					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.L36Q(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CGTGAAGCACAGCGCGCAGTA	0.726													5	34	---	---	---	---	0	0
ZNF33A	7581	broad.mit.edu	37	10	38345420	38345420	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:38345420A>T	ENST00000374618.3	+	5	2546	c.2368A>T	c.(2368-2370)Agc>Tgc	p.S790C	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S796C|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S789C|ZNF33A_ENST00000458705.2_Missense_Mutation_p.S789C	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	789						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S789C(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GCCACAAGTCAGCCTCCATAA	0.378													16	59	---	---	---	---	0	0
STK32C	282974	broad.mit.edu	37	10	134145147	134145147	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:134145147G>A	ENST00000368625.4	-	1	179	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F				Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	0							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.L32F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCGCTCCAAAGGTGGTGCCTC	0.682													21	41	---	---	---	---	0	0
ATG13	9776	broad.mit.edu	37	11	46671807	46671807	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:46671807G>T	ENST00000434074.1	+	6	1087	c.398G>T	c.(397-399)aGg>aTg	p.R133M	ATG13_ENST00000529655.1_Missense_Mutation_p.R133M|ATG13_ENST00000312040.4_Missense_Mutation_p.R133M|ATG13_ENST00000526508.1_Missense_Mutation_p.R133M|ATG13_ENST00000530500.1_Missense_Mutation_p.R54M|ATG13_ENST00000524625.1_Missense_Mutation_p.R133M|ATG13_ENST00000528494.1_Missense_Mutation_p.R133M|ATG13_ENST00000359513.4_Missense_Mutation_p.R133M|ATG13_ENST00000451945.1_Missense_Mutation_p.R133M	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	133					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GCTATAACTAGGGTGACACCA	0.428													6	78	---	---	---	---	0	0
KDM2A	22992	broad.mit.edu	37	11	66982827	66982827	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:66982827G>T	ENST00000529006.2	+	7	949	c.503G>T	c.(502-504)tGg>tTg	p.W168L	KDM2A_ENST00000398645.2_Missense_Mutation_p.W168L|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	168	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TTCATTGACTGGGTAGACAAC	0.418													4	49	---	---	---	---	0	0
SYTL2	54843	broad.mit.edu	37	11	85459457	85459457	+	Silent	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:85459457A>T	ENST00000316356.4	-	3	675	c.111T>A	c.(109-111)ccT>ccA	p.P37P	SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000528231.1_Silent_p.P37P|SYTL2_ENST00000389960.4_Silent_p.P37P			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	37	RabBD.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.P37P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAATTTTTTCAGGCAAATGTC	0.393													5	78	---	---	---	---	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839002	128839002	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:128839002G>T	ENST00000310343.9	-	22	6063	c.6064C>A	c.(6064-6066)Cag>Aag	p.Q2022K	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q1673K|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q1673K|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2022	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTATCATACTGGGACACAACA	0.582													4	71	---	---	---	---	0	0
CEP290	80184	broad.mit.edu	37	12	88514920	88514920	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:88514920T>C	ENST00000552810.1	-	14	1556	c.1213A>G	c.(1213-1215)Act>Gct	p.T405A	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.T405A	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	405					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.T405A(2)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCATATGAGTCTGTTGAGAA	0.383													3	43	---	---	---	---	0	0
ACACB	32	broad.mit.edu	37	12	109639448	109639448	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:109639448T>A	ENST00000338432.7	+	19	2974	c.2855T>A	c.(2854-2856)cTg>cAg	p.L952Q	ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q|ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	952	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.L952Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGTGCCGTGCTGGAAGCAGGC	0.552													7	79	---	---	---	---	0	0
TBX5	6910	broad.mit.edu	37	12	114793645	114793645	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:114793645G>A	ENST00000310346.4	-	9	1915	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	TBX5_ENST00000349716.5_Missense_Mutation_p.P367S|TBX5_ENST00000405440.2_Missense_Mutation_p.P417S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	417					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.P417S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTGTCCATGGGCTGCACGGTG	0.657													11	46	---	---	---	---	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563125	129563125	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:129563125A>G	ENST00000422113.2	-	8	2395	c.2069T>C	c.(2068-2070)aTc>aCc	p.I690T	TMEM132D_ENST00000389441.4_Missense_Mutation_p.I228T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	690						integral to membrane		p.I690T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTGGCAAAGATGGCCCTGTT	0.577													5	109	---	---	---	---	0	0
ENOX1	55068	broad.mit.edu	37	13	43872565	43872565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr13:43872565C>A	ENST00000261488.6	-	12	1940	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.E455*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	455					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.E455*(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AAAAGCTGTTCTTTTTCTTGT	0.527													38	103	---	---	---	---	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113181286	113181286	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr13:113181286C>A	ENST00000261965.3	-	13	1711	c.1525G>T	c.(1525-1527)Gtg>Ttg	p.V509L	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V509L|TUBGCP3_ENST00000462580.1_5'UTR	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	509					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	p.V509L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GACTTGGTCACAGCTATCATC	0.423													3	67	---	---	---	---	0	0
CEP128	145508	broad.mit.edu	37	14	81251838	81251838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr14:81251838G>A	ENST00000555265.1	-	15	1987	c.1612C>T	c.(1612-1614)Caa>Taa	p.Q538*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q538*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	538						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCTCTATTTGTTGTAATGCT	0.353													11	22	---	---	---	---	0	0
COMMD4	54939	broad.mit.edu	37	15	75631620	75631620	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr15:75631620T>C	ENST00000267935.8	+	6	516	c.317T>C	c.(316-318)cTg>cCg	p.L106P	COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P|COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	106						cytoplasm	protein binding	p.L106P(3)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GCGGCCAGCCTGTGCCGCTGT	0.622													3	45	---	---	---	---	0	0
AP3B2	8120	broad.mit.edu	37	15	83332552	83332552	+	Splice_Site	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr15:83332552C>A	ENST00000261722.3	-	19	2587		c.e19+1		AP3B2_ENST00000535359.1_Splice_Site|AP3B2_ENST00000535348.1_Splice_Site|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit						endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.?(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			AAGGCTCTCACTGTTTTCCTG	0.587													3	36	---	---	---	---	0	0
GTF3C1	2975	broad.mit.edu	37	16	27500375	27500375	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:27500375G>T	ENST00000356183.4	-	21	3433	c.3418C>A	c.(3418-3420)Cag>Aag	p.Q1140K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Q1140K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1140						transcription factor TFIIIC complex	DNA binding|protein binding	p.Q1140K(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTTTGGCCTGGTTGATGATG	0.577													5	121	---	---	---	---	0	0
BRD7	29117	broad.mit.edu	37	16	50368807	50368807	+	Splice_Site	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:50368807C>A	ENST00000394688.3	-	7	862		c.e7-1		BRD7_ENST00000394689.2_Splice_Site			Q9NPI1	BRD7_HUMAN	bromodomain containing 7						cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GAATTCTTTCCTAAACATATT	0.373													4	57	---	---	---	---	0	0
BRD7	29117	broad.mit.edu	37	16	50402142	50402142	+	Silent	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:50402142C>A	ENST00000394688.3	-	2	276	c.117G>T	c.(115-117)acG>acT	p.T39T	BRD7_ENST00000394689.2_Silent_p.T39T|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	39	Lys-rich.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.T39T(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CCGAGCTGCCCGTGGAGAGTT	0.468													5	162	---	---	---	---	0	0
CES2	8824	broad.mit.edu	37	16	66969408	66969408	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:66969408C>A	ENST00000317091.4	+	1	1046	c.62C>A	c.(61-63)cCg>cAg	p.P21Q	CES2_ENST00000417689.1_Missense_Mutation_p.P21Q	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	0					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CAGCGCACCCCGCTGACTCCC	0.662													5	126	---	---	---	---	0	0
DNAH2	146754	broad.mit.edu	37	17	7680786	7680786	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:7680786C>G	ENST00000572933.1	+	33	6541	c.5081C>G	c.(5080-5082)tCa>tGa	p.S1694*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.S1694*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1694	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1694*(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATAAGTATTCAGAAGCCATC	0.507													30	378	---	---	---	---	0	0
DNAH9	1770	broad.mit.edu	37	17	11572560	11572560	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:11572560G>A	ENST00000262442.4	+	16	2979	c.2911G>A	c.(2911-2913)Ggc>Agc	p.G971S	DNAH9_ENST00000454412.2_Missense_Mutation_p.G971S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G971S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCACAAAATGGCTCTCCTCA	0.542													5	125	---	---	---	---	0	0
CCDC144A	9720	broad.mit.edu	37	17	16594036	16594036	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:16594036G>T	ENST00000443444.2	+	1	462	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	CCDC144A_ENST00000456009.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000360524.8_Missense_Mutation_p.D108Y|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D108Y|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D108Y|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D108Y			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	108								p.D108Y(1)									CACTGGCGTGGACAAGAGGGA	0.657													27	245	---	---	---	---	0	0
FLII	2314	broad.mit.edu	37	17	18151872	18151872	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:18151872G>C	ENST00000327031.4	-	18	2407	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	FLII_ENST00000579294.1_Missense_Mutation_p.L717V|FLII_ENST00000545457.2_Missense_Mutation_p.L673V|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.L642V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	728	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	p.L728V(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ACCTTGTACAGCTTGGGCTGC	0.622											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	61	---	---	---	---	0	0
ABCA5	23461	broad.mit.edu	37	17	67252297	67252297	+	Splice_Site	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:67252297C>T	ENST00000392676.3	-	29	3923		c.e29+1		ABCA5_ENST00000392677.2_Splice_Site|ABCA5_ENST00000588877.1_Splice_Site			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5						cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GAATAAATTACCTCCTCACAA	0.353													7	134	---	---	---	---	0	0
MAP2K6	5608	broad.mit.edu	37	17	67513026	67513026	+	Silent	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:67513026C>T	ENST00000590474.1	+	3	401	c.114C>T	c.(112-114)tgC>tgT	p.C38C	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	38					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C38C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CCAAGGCTTGCATTTCTATTG	0.363													5	106	---	---	---	---	0	0
DOT1L	84444	broad.mit.edu	37	19	2216565	2216565	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:2216565C>A	ENST00000398665.3	+	20	2245	c.2209C>A	c.(2209-2211)Cag>Aag	p.Q737K	DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	737						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACACGCCCCAGTACCTGGC	0.672													4	76	---	---	---	---	0	0
TMEM143	55260	broad.mit.edu	37	19	48836662	48836662	+	Silent	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:48836662C>A	ENST00000293261.3	-	8	1510	c.1194G>T	c.(1192-1194)gtG>gtT	p.V398V	TMEM143_ENST00000377431.2_Silent_p.V298V|TMEM143_ENST00000435956.3_Silent_p.V363V|TMEM143_ENST00000436660.2_Silent_p.V333V|TMEM143_ENST00000541566.1_Silent_p.V288V	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	398						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCCAGTTCTCCACCTCCGACC	0.622													4	82	---	---	---	---	0	0
HSPBP1	23640	broad.mit.edu	37	19	55789207	55789207	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:55789207T>C	ENST00000255631.5	-	4	528	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q73R|HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q73R|HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q73R	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	76					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	p.Q73R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTGCAGCCACTGACGCCTCTG	0.577													7	21	---	---	---	---	0	0
CTSA	5476	broad.mit.edu	37	20	44520659	44520659	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr20:44520659C>A	ENST00000372484.3	+	3	635	c.353C>A	c.(352-354)cCc>cAc	p.P118H	CTSA_ENST00000354880.5_Missense_Mutation_p.P118H|CTSA_ENST00000191018.5_Missense_Mutation_p.P100H|CTSA_ENST00000372459.2_Missense_Mutation_p.P100H	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	100					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GAGCATGGCCCCTTCCTGGTG	0.562											OREG0025986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	47	---	---	---	---	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993895	45993895	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr21:45993895C>T	ENST00000400374.3	+	1	290	c.260C>T	c.(259-261)cCc>cTc	p.P87L	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	87	36 X 5 AA repeats of C-C-X(3).					keratin filament		p.P87L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCCTGCACGCCCTCGTGCTGC	0.682													16	85	---	---	---	---	0	0
ARSF	416	broad.mit.edu	37	X	3002395	3002395	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chrX:3002395G>T	ENST00000381127.1	+	6	739	c.518G>T	c.(517-519)tGc>tTc	p.C173F	ARSF_ENST00000359361.2_Missense_Mutation_p.C173F|ARSF_ENST00000537104.1_Missense_Mutation_p.C173F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	173						extracellular region	arylsulfatase activity|metal ion binding	p.C173F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTTGACAGCTGCTGGCCGGAC	0.527													6	50	---	---	---	---	0	0
CAPN13	92291	broad.mit.edu	37	2	30987143	30987143	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:30987143T>C	ENST00000295055.8	-	6	730	c.554A>G	c.(553-555)tAt>tGt	p.Y185C	CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	185	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.Y185C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGGAAGCCATAGTGCAGATC	0.577													9	22	---	---	---	---	0	0
SPTBN1	0	broad.mit.edu	37	2	54753666	54753666	+	Silent	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:54753666G>A	ENST00000356805.4	+	2	392	c.111G>A	c.(109-111)gcG>gcA	p.A37A	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	37	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.A37A(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAGCTCTGCGCGGCTTTTTG	0.532													16	54	---	---	---	---	0	0
NGLY1	55768	broad.mit.edu	37	3	25778887	25778887	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr3:25778887T>C	ENST00000428257.1	-	6	1048	c.941A>G	c.(940-942)aAt>aGt	p.N314S	NGLY1_ENST00000280700.5_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	314					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.N314S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGTAAAACAATTGGCCCACTC	0.413													8	61	---	---	---	---	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678365	25678365	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:25678365C>T	ENST00000382051.3	+	13	2117	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	SLC34A2_ENST00000503434.1_Silent_p.A688A|SLC34A2_ENST00000504570.1_Silent_p.A688A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	689					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.A689A(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AATGCACGGCCTTGTAGGGGA	0.562			T	ROS1	NSCLC								12	56	---	---	---	---	0	0
TMEM184C	55751	broad.mit.edu	37	4	148545026	148545026	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:148545026T>G	ENST00000296582.3	+	2	739	c.165T>G	c.(163-165)ttT>ttG	p.F55L	TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	55						integral to membrane		p.F55L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTGGAATCTTTTTGCTGTTGA	0.323													23	66	---	---	---	---	0	0
FZD6	8323	broad.mit.edu	37	8	104340556	104340556	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr8:104340556A>G	ENST00000358755.4	+	5	1770	c.1453A>G	c.(1453-1455)Att>Gtt	p.I485V	FZD6_ENST00000522566.1_Missense_Mutation_p.I485V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000540287.1_Missense_Mutation_p.I180V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	485					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.I485V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GATGACATTAATTGTTGGCAT	0.358													14	47	---	---	---	---	0	0
SLK	9748	broad.mit.edu	37	10	105761232	105761232	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr10:105761232C>A	ENST00000369755.3	+	8	1440	c.895C>A	c.(895-897)Ccc>Acc	p.P299T	SLK_ENST00000335753.4_Missense_Mutation_p.P299T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	299					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	p.P299T(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTCCAACAAACCCATCCGAGA	0.388													7	32	---	---	---	---	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259904	71259904	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr11:71259904C>T	ENST00000528743.2	+	1	439	c.201C>T	c.(199-201)ggC>ggT	p.G67G		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	67	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament		p.G67G(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCTGTGGGGGCTCCAAGGGAG	0.627													8	159	---	---	---	---	0	0
BBS10	79738	broad.mit.edu	37	12	76740951	76740951	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr12:76740951C>T	ENST00000393262.3	-	2	897	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	272					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	p.G272R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AACTCTGATCCAGAAGTGGAA	0.373									Bardet-Biedl syndrome				12	26	---	---	---	---	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91360831	91360831	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr14:91360831T>G	ENST00000261991.3	-	13	1743	c.1570A>C	c.(1570-1572)Atc>Ctc	p.I524L	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	524	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.I524L(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTCCTCATGATGTAGCTGGCT	0.448													25	54	---	---	---	---	0	0
AP3B2	8120	broad.mit.edu	37	15	83346500	83346500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:83346500C>A	ENST00000261722.3	-	12	1508	c.1301G>T	c.(1300-1302)gGa>gTa	p.G434V	AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V|AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	434					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.G433V(1)|p.G434V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCACAGCGTCCAATGGCCTG	0.537													4	14	---	---	---	---	0	0
IQGAP1	8826	broad.mit.edu	37	15	91027480	91027480	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:91027480C>G	ENST00000268182.5	+	30	3941	c.3817C>G	c.(3817-3819)Cca>Gca	p.P1273A	IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1273	C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.P1273A(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGTGATGTCCCAGAGCTTCA	0.423													33	121	---	---	---	---	0	0
DNM1P46	0	broad.mit.edu	37	15	100331077	100331077	+	RNA	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:100331077C>A	ENST00000341853.1	-	0	3114					NR_003260.1																						GCGGCCCCTCCCCTCAGAGTA	0.517													4	91	---	---	---	---	0	0
TMEM105	284186	broad.mit.edu	37	17	79287646	79287646	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr17:79287646C>A	ENST00000332900.1	-	3	744	c.195G>T	c.(193-195)tgG>tgT	p.W65C		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	65						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CACAGTCCCCCCAAGGAGACC	0.642													4	112	---	---	---	---	0	0
C20orf194	25943	broad.mit.edu	37	20	3236652	3236652	+	Splice_Site	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr20:3236652C>G	ENST00000252032.9	-	34	3328	c.3261G>C	c.(3259-3261)caG>caC	p.Q1087H	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1087								p.Q1087H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGAAACCACCTGCTTAGCTG	0.597													8	27	---	---	---	---	0	0
PTPRT	11122	broad.mit.edu	37	20	40735499	40735499	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr20:40735499T>G	ENST00000373198.4	-	25	3609	c.3374A>C	c.(3373-3375)aAt>aCt	p.N1125T	PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000373187.1_Missense_Mutation_p.N1106T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.N1128T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCCCTTCATTCTCGGCCAT	0.562													4	103	---	---	---	---	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173364	57173364	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:57173364T>A	ENST00000371244.4	+	9	1703	c.1637T>A	c.(1636-1638)cTg>cAg	p.L546Q		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	546					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.L546Q(3)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGTGCCAGTCTGATTACTACT	0.388													4	142	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158637764	158637764	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:158637764T>C	ENST00000368147.4	-	15	2102	c.1922A>G	c.(1921-1923)cAg>cGg	p.Q641R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q641R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAGTTTTCTGTATGTTTTC	0.468													12	130	---	---	---	---	0	0
DUSP27	92235	broad.mit.edu	37	1	167095421	167095421	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:167095421C>T	ENST00000361200.2	+	6	1219	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.Y351Y			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	351					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.Y351Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAACTGTACGAGCAGTGGA	0.662													5	18	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179432336	179432336	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr2:179432336G>A	ENST00000589042.1	-	326	78747	c.78523C>T	c.(78523-78525)Ccc>Tcc	p.P26175S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN_ENST00000591111.1_Missense_Mutation_p.P24534S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24534	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17110S(2)|p.P23605S(1)|p.P17235S(1)|p.P23607S(1)|p.P17302S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTCAGAGGGTTTACTTATT	0.388													6	92	---	---	---	---	0	0
TKT	7086	broad.mit.edu	37	3	53263147	53263147	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:53263147T>A	ENST00000462138.1	-	10	1359	c.1271A>T	c.(1270-1272)gAc>gTc	p.D424V	TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000423525.2_Missense_Mutation_p.D424V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.D432V			P29401	TKT_HUMAN	transketolase	424					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	p.D424V(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGAGGGCCCGTCTTCCCCTGG	0.572													5	157	---	---	---	---	0	0
CEP97	79598	broad.mit.edu	37	3	101450746	101450746	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:101450746A>T	ENST00000341893.3	+	5	1262	c.510A>T	c.(508-510)agA>agT	p.R170S	CEP97_ENST00000494050.1_Missense_Mutation_p.R170S|CEP97_ENST00000327230.4_Missense_Mutation_p.R170S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	170						centrosome|nucleus	protein binding	p.R170S(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCTACCCAGAAGTCTTGCTA	0.373													7	140	---	---	---	---	0	0
FGA	2243	broad.mit.edu	37	4	155506852	155506852	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr4:155506852A>G	ENST00000302053.3	-	5	1807	c.1729T>C	c.(1729-1731)Tca>Cca	p.S577P	FGA_ENST00000403106.3_Missense_Mutation_p.S577P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	577					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.S577P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTGTAACTTGAAGATTTACCA	0.443													25	82	---	---	---	---	0	0
BRD9	65980	broad.mit.edu	37	5	889273	889273	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:889273G>A	ENST00000323510.4	-	2	120	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000435709.2_Missense_Mutation_p.P41S|BRD9_ENST00000467963.1_Missense_Mutation_p.P157S|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	157							nucleic acid binding	p.P41S(1)|p.P157S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AATCCATGGGGATCTTTTCTG	0.343													13	15	---	---	---	---	0	0
GFM2	84340	broad.mit.edu	37	5	74056731	74056731	+	Silent	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:74056731T>C	ENST00000296805.3	-	3	601	c.144A>G	c.(142-144)ctA>ctG	p.L48L	GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L|GFM2_ENST00000345239.2_Silent_p.L48L	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	48					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	p.L48L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGTACCTGGTAGAGAACTGC	0.338													6	174	---	---	---	---	0	0
PCDHB5	0	broad.mit.edu	37	5	140516811	140516811	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:140516811G>A	ENST00000231134.5	+	1	2012	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		599	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.A599T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716													20	62	---	---	---	---	0	0
PCDHB12	0	broad.mit.edu	37	5	140590277	140590277	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:140590277G>A	ENST00000239450.2	+	1	1987	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		600	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A600T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716													7	234	---	---	---	---	0	0
GCNT2	2651	broad.mit.edu	37	6	10586319	10586319	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:10586319T>C	ENST00000265012.4	+	1	341	c.97T>C	c.(97-99)Tat>Cat	p.Y33H	GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	34						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.Y33H(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCCAAAAAGTTATGAGAAGCT	0.388													4	156	---	---	---	---	0	0
OPN5	221391	broad.mit.edu	37	6	47763181	47763181	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:47763181C>T	ENST00000489301.2	+	4	723	c.638C>T	c.(637-639)gCt>gTt	p.A213V	OPN5_ENST00000371211.2_Missense_Mutation_p.A213V|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR			Q6U736	OPN5_HUMAN	opsin 5	213					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.A213V(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTCCCAACGGCTGTGATCGTG	0.542													32	80	---	---	---	---	0	0
NOD1	10392	broad.mit.edu	37	7	30491719	30491719	+	Silent	SNP	G	G	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:30491719G>T	ENST00000222823.4	-	6	1839	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	438	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCAGGCTGCTGGGCTGCATCC	0.652													4	83	---	---	---	---	0	0
GCK	2645	broad.mit.edu	37	7	44185094	44185094	+	Splice_Site	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:44185094A>G	ENST00000403799.3	-	9	1723		c.e9+1		GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000345378.2_Splice_Site	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)						cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.?(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GGGCGGGCTCACCTGGGGTGC	0.627													3	9	---	---	---	---	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586756	53586756	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:53586756C>A	ENST00000025008.5	-	7	1174	c.651G>T	c.(649-651)ttG>ttT	p.L217F	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L217F|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L217F	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	217					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CCAGTCTTCCCAAACATTCTC	0.403													4	157	---	---	---	---	0	0
PREX2	80243	broad.mit.edu	37	8	68950516	68950516	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:68950516A>T	ENST00000288368.4	+	7	1105	c.828A>T	c.(826-828)aaA>aaT	p.K276N	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	276	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.K276N(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTACTGCAAAAGAAAACACA	0.403													14	33	---	---	---	---	0	0
COL22A1	169044	broad.mit.edu	37	8	139642957	139642957	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:139642957G>T	ENST00000303045.6	-	50	4090	c.3644C>A	c.(3643-3645)cCa>cAa	p.P1215Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1195Q|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1215	Collagen-like 11.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1215Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGATTCCTGGTGGTCCAGC	0.478										HNSCC(7;0.00092)			4	172	---	---	---	---	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504896	18504896	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:18504896T>C	ENST00000380548.4	+	2	472	c.133T>C	c.(133-135)Tgc>Cgc	p.C45R	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	45	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C45R(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATGGAGTGAATGCTCACGCAC	0.607													11	98	---	---	---	---	0	0
DENND4C	55667	broad.mit.edu	37	9	19360324	19360324	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:19360324C>A	ENST00000380432.2	+	24	4421	c.4388C>A	c.(4387-4389)tCt>tAt	p.S1463Y	DENND4C_ENST00000602925.1_Missense_Mutation_p.S1699Y|DENND4C_ENST00000434457.2_Missense_Mutation_p.S1748Y			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1463						integral to membrane		p.S1463Y(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAACTTGAATCTTTGCTAGAA	0.378													4	146	---	---	---	---	0	0
COL27A1	85301	broad.mit.edu	37	9	117052373	117052373	+	Silent	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:117052373A>G	ENST00000356083.3	+	46	4633	c.4242A>G	c.(4240-4242)ccA>ccG	p.P1414P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1414	Collagen-like 13.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1414P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGGGGCCCCAGGCCGGAGGG	0.642													3	89	---	---	---	---	0	0
OR4X1	390113	broad.mit.edu	37	11	48286184	48286184	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr11:48286184A>G	ENST00000320048.1	+	1	772	c.772A>G	c.(772-774)Agg>Ggg	p.R258G		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GGTCTATATTAGGCCCTGTGT	0.493													3	221	---	---	---	---	0	0
VWF	7450	broad.mit.edu	37	12	6058267	6058267	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:6058267G>T	ENST00000261405.5	-	52	8610	c.8356C>A	c.(8356-8358)Ctg>Atg	p.L2786M		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2786	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTGCAGTGCAGGGCCACCTGC	0.567													3	33	---	---	---	---	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233907	10233907	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:10233907T>A	ENST00000315330.4	-	3	382	c.320A>T	c.(319-321)aAt>aTt	p.N107I	CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	107					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.N107I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AAGCTTTATATTCTGGACTTG	0.448													5	92	---	---	---	---	0	0
RP11-377D9.3	0	broad.mit.edu	37	12	13155157	13155157	+	RNA	SNP	T	T	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:13155157T>G	ENST00000543321.1	+	0	31																		p.S537A(1)									CACGATTTACTCCACCGCAGT	0.478													3	13	---	---	---	---	0	0
ANAPC7	51434	broad.mit.edu	37	12	110815282	110815282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:110815282C>A	ENST00000455511.3	-	9	1375	c.1375G>T	c.(1375-1377)Gag>Tag	p.E459*	ANAPC7_ENST00000450008.2_Nonsense_Mutation_p.E459*|ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	459					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	p.E425*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TTGGCTTTCTCCTGTGTCACT	0.418													4	123	---	---	---	---	0	0
WSB2	55884	broad.mit.edu	37	12	118480735	118480735	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:118480735C>A	ENST00000315436.3	-	4	611	c.470G>T	c.(469-471)aGa>aTa	p.R157I	WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.R159I|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.R174I|WSB2_ENST00000544233.1_Intron	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	157					intracellular signal transduction			p.R157I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTCAGATCTCTCACGACATC	0.562													4	141	---	---	---	---	0	0
LRRC43	254050	broad.mit.edu	37	12	122669084	122669084	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:122669084C>T	ENST00000339777.4	+	2	197	c.169C>T	c.(169-171)Cct>Tct	p.P57S	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	57								p.P57S(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCGCTTTCTTCCTCAAACTTG	0.562													3	33	---	---	---	---	0	0
CHMP4A	29082	broad.mit.edu	37	14	24682652	24682652	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr14:24682652C>G	ENST00000347519.6	-	1	423	c.123G>C	c.(121-123)gaG>gaC	p.E41D	CHMP4A_ENST00000609024.1_5'UTR|TM9SF1_ENST00000556387.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR|CHMP4A_ENST00000530996.1_5'UTR|AL136419.6_ENST00000565988.1_RNA	NM_014169.3	NP_054888.2			charged multivesicular body protein 4A									p.E41D(1)		NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		TCATCGCGAGCTCGCCTCTCC	0.672													6	50	---	---	---	---	0	0
SLX4	84464	broad.mit.edu	37	16	3658496	3658496	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:3658496G>A	ENST00000294008.3	-	2	1110	c.470C>T	c.(469-471)gCa>gTa	p.A157V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	157	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.A157V(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGTGTTTTGTGCTGTTTCCCG	0.522								Direct reversal of damage					6	142	---	---	---	---	0	0
ZNF747	65988	broad.mit.edu	37	16	30545567	30545567	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:30545567C>A	ENST00000252799.3	-	1	1101	c.434G>T	c.(433-435)cGg>cTg	p.R145L	ZNF747_ENST00000395094.3_Missense_Mutation_p.R145L|ZNF747_ENST00000568028.1_Silent_p.P98P|AC002310.13_ENST00000568114.1_Silent_p.P87P|ZNF747_ENST00000569360.1_Silent_p.P98P|ZNF747_ENST00000535210.1_Silent_p.P98P	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	145					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	p.R145L(1)		kidney(1)|lung(3)|prostate(1)	5						CCTGGGCAGCCGGATCCCACA	0.637													3	5	---	---	---	---	0	0
SERPINF1	5176	broad.mit.edu	37	17	1679918	1679918	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:1679918C>T	ENST00000254722.4	+	7	1042	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	293					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	p.L293L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AGGAGAGCCTCACCTCCGAGT	0.522													5	166	---	---	---	---	0	0
TAOK1	57551	broad.mit.edu	37	17	27844648	27844648	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:27844648A>C	ENST00000261716.3	+	16	2401	c.1882A>C	c.(1882-1884)Aac>Cac	p.N628H	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	628					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	p.N628H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGGCGTCATAACTTAGAGCA	0.393													28	97	---	---	---	---	0	0
UNC45B	146862	broad.mit.edu	37	17	33504058	33504058	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:33504058A>G	ENST00000268876.5	+	16	2151	c.2054A>G	c.(2053-2055)gAg>gGg	p.E685G	UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	685					cell differentiation|muscle organ development	cytosol	binding	p.E685G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTGGCTTTGGAGGGCACAGAT	0.572													3	133	---	---	---	---	0	0
TBCD	6904	broad.mit.edu	37	17	80726352	80726352	+	Silent	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:80726352T>C	ENST00000355528.4	+	5	622	c.492T>C	c.(490-492)ccT>ccC	p.P164P	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.P164P	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	164					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTGATCCCTTTTGATTTTT	0.473													4	297	---	---	---	---	0	0
ZNF709	163051	broad.mit.edu	37	19	12575501	12575501	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:12575501C>A	ENST00000397732.3	-	4	1406	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ZNF709_ENST00000428311.1_Missense_Mutation_p.R412I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R412I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTGTGAGTTCTTTCATGCAT	0.418													4	123	---	---	---	---	0	0
EMR2	30817	broad.mit.edu	37	19	14875286	14875286	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:14875286A>C	ENST00000315576.3	-	11	1494	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	348					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L348R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCCATTGGAAAGGTTCTTGCT	0.577													3	63	---	---	---	---	0	0
PSG11	5680	broad.mit.edu	37	19	43519267	43519267	+	Splice_Site	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:43519267C>A	ENST00000401740.1	-	4	1068		c.e4+1		PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000306322.7_Splice_Site|PSG11_ENST00000403486.1_Splice_Site			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy	extracellular region		p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GATCCACTTACCAATGACTCT	0.473													12	158	---	---	---	---	0	0
KLK3	354	broad.mit.edu	37	19	51361766	51361766	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:51361766A>C	ENST00000360617.3	+	4	545	c.545A>C	c.(544-546)gAc>gCc	p.D182A	KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000326003.2_Missense_Mutation_p.D182A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	182	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.D182A(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATTTCCAATGACGTGTGTGCG	0.547													6	175	---	---	---	---	0	0
MBOAT7	79143	broad.mit.edu	37	19	54692085	54692085	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:54692085A>C	ENST00000245615.1	-	3	672	c.192T>G	c.(190-192)atT>atG	p.I64M	MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	64					phospholipid biosynthetic process	integral to membrane	acyltransferase activity	p.I64M(1)		endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTGGGCCTGAATGAGGGCCC	0.607													3	97	---	---	---	---	0	0
AGPAT3	56894	broad.mit.edu	37	21	45400973	45400973	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr21:45400973C>A	ENST00000398063.2	+	8	1439	c.947C>A	c.(946-948)aCc>aAc	p.T316N	AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	316					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.T316N(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCCTGGGCCACCATTCTCCTG	0.552													4	121	---	---	---	---	0	0
PTCH2	8643	broad.mit.edu	37	1	45293750	45293750	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:45293750G>A	ENST00000447098.2	-	14	1834	c.1823C>T	c.(1822-1824)gCc>gTc	p.A608V	PTCH2_ENST00000372192.3_Missense_Mutation_p.A608V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	608					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGCTGCTGGCTTCACAGTG	0.627									Basal Cell Nevus syndrome				16	172	---	---	---	---	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011538	160011538	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:160011538G>A	ENST00000368089.3	-	2	1011	c.785C>T	c.(784-786)aCc>aTc	p.T262I	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	262						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGGGACTGGTCTCATCTAC	0.522													5	111	---	---	---	---	0	0
CNST	163882	broad.mit.edu	37	1	246810985	246810985	+	Silent	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:246810985A>G	ENST00000366513.4	+	9	1751	c.1482A>G	c.(1480-1482)ggA>ggG	p.G494G	CNST_ENST00000366512.3_Silent_p.G494G|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	494					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACAGTGATGGAAAATCACCAC	0.473													8	78	---	---	---	---	0	0
CACNB4	785	broad.mit.edu	37	2	152732968	152732968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:152732968C>A	ENST00000360283.6	-	4	648	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	CACNB4_ENST00000534999.1_Nonsense_Mutation_p.E131*|CACNB4_ENST00000539935.1_Nonsense_Mutation_p.E165*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.E118*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.E165*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.E147*			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	165	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CTTTTTTGTTCTTGCTGGATC	0.408													10	16	---	---	---	---	0	0
SAG	6295	broad.mit.edu	37	2	234237163	234237163	+	Silent	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:234237163C>T	ENST00000409110.1	+	8	782	c.552C>T	c.(550-552)gcC>gcT	p.A184A	SAG_ENST00000449594.2_Silent_p.A50A	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	184					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TACAGCATGCCCCACTTGAGA	0.587													7	140	---	---	---	---	0	0
IL17RC	84818	broad.mit.edu	37	3	9962224	9962224	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:9962224G>A	ENST00000295981.3	+	6	946	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000416074.2_Missense_Mutation_p.R43Q|IL17RC_ENST00000455057.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000403601.3_Missense_Mutation_p.R172Q|IL17RC_ENST00000383812.4_Missense_Mutation_p.R172Q	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	243						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGTGAGGTACGAATCTGGTCC	0.592													6	28	---	---	---	---	0	0
SACM1L	22908	broad.mit.edu	37	3	45745007	45745007	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:45745007C>A	ENST00000389061.5	+	2	314	c.110C>A	c.(109-111)tCc>tAc	p.S37Y	SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.P19T	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	37						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GACCGTGTGTCCACAGAGGTT	0.353													36	71	---	---	---	---	0	0
EXOC1	55763	broad.mit.edu	37	4	56762964	56762964	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr4:56762964G>C	ENST00000381295.2	+	16	2383	c.2035G>C	c.(2035-2037)Gaa>Caa	p.E679Q	EXOC1_ENST00000346134.7_Missense_Mutation_p.E679Q|EXOC1_ENST00000349598.6_Missense_Mutation_p.E664Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	679					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGCTGAATTTGAAGAATTTGC	0.368													3	63	---	---	---	---	0	0
NIPBL	25836	broad.mit.edu	37	5	37017250	37017250	+	Missense_Mutation	SNP	C	C	G	rs149451089		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:37017250C>G	ENST00000282516.8	+	24	5405	c.4906C>G	c.(4906-4908)Cgc>Ggc	p.R1636G	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1636G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1636					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCTATAGAACGCATTTTAAA	0.333													8	34	---	---	---	---	0	0
NSA2	10412	broad.mit.edu	37	5	74069862	74069862	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:74069862C>T	ENST00000296802.5	+	5	1061	c.692C>T	c.(691-693)aCa>aTa	p.T231I		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	231					rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						GGCCTTGTGACACAAGGAGGC	0.383													10	148	---	---	---	---	0	0
AKAP12	9590	broad.mit.edu	37	6	151672836	151672836	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr6:151672836G>C	ENST00000402676.2	+	4	3550	c.3310G>C	c.(3310-3312)Gag>Cag	p.E1104Q	AKAP12_ENST00000253332.1_Missense_Mutation_p.E1104Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1006Q|AKAP12_ENST00000359755.5_Missense_Mutation_p.E999Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1104					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGCAAAAACTGAGCCTTTTAC	0.502													3	51	---	---	---	---	0	0
KIAA1429	25962	broad.mit.edu	37	8	95549369	95549369	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:95549369C>G	ENST00000297591.5	-	4	352	c.277G>C	c.(277-279)Gat>Cat	p.D93H	KIAA1429_ENST00000421249.2_Missense_Mutation_p.D93H|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D93H	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	93					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTATTCTCATCATATTCCAGG	0.333													4	145	---	---	---	---	0	0
PLCZ1	89869	broad.mit.edu	37	12	18872504	18872504	+	Missense_Mutation	SNP	G	G	C	rs140550681		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:18872504G>C	ENST00000266505.7	-	5	693	c.430C>G	c.(430-432)Cta>Gta	p.L144V	PLCZ1_ENST00000541695.1_Missense_Mutation_p.L7V|PLCZ1_ENST00000435379.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L142V			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	144					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTAAACAGTAGACATTCACGT	0.264													16	40	---	---	---	---	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54118947	54118947	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:54118947T>C	ENST00000548263.1	-	2	128	c.80A>G	c.(79-81)aAc>aGc	p.N27S	CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.N27S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N27S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N27S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	27	N-terminal AD (CTNNB1 binding site) (By similarity).|p300 KIX-binding (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.N27S(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACCTTGGTGTTGGGGATGTA	0.542													13	83	---	---	---	---	0	0
CYP27B1	1594	broad.mit.edu	37	12	58159257	58159257	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:58159257G>A	ENST00000228606.4	-	3	621	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	CYP27B1_ENST00000546496.1_5'UTR	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	138					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	AGGAGACTGCGGAGCCTTTGC	0.672											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	14	---	---	---	---	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452768	100452768	+	Silent	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:100452768A>G	ENST00000279907.7	-	14	2499	c.2287T>C	c.(2287-2289)Ttg>Ctg	p.L763L	UHRF1BP1L_ENST00000545232.2_Silent_p.L413L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	763										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTCCGCTTCAATCGGCCAGCC	0.408													49	127	---	---	---	---	0	0
MYBPC1	4604	broad.mit.edu	37	12	102072013	102072013	+	Silent	SNP	T	T	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:102072013T>A	ENST00000549145.1	+	28	3361	c.3261T>A	c.(3259-3261)ccT>ccA	p.P1087P	MYBPC1_ENST00000536007.1_Silent_p.P1037P|MYBPC1_ENST00000547509.1_Silent_p.P1042P|MYBPC1_ENST00000541119.1_Silent_p.P1044P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Silent_p.P957P|MYBPC1_ENST00000545503.2_Silent_p.P1056P|MYBPC1_ENST00000550270.1_Silent_p.P1074P|MYBPC1_ENST00000553190.1_Silent_p.P1056P|MYBPC1_ENST00000441232.1_Silent_p.P1074P|MYBPC1_ENST00000360610.2_Silent_p.P1074P|MYBPC1_ENST00000361685.2_Silent_p.P1081P|MYBPC1_ENST00000547405.1_Silent_p.P1030P|MYBPC1_ENST00000361466.2_Silent_p.P1081P|MYBPC1_ENST00000392934.3_Silent_p.P1043P|MYBPC1_ENST00000452455.2_Silent_p.P1074P			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1074	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAGGAAATCCTAAGGTACCAT	0.398													53	124	---	---	---	---	0	0
SERPINE3	647174	broad.mit.edu	37	13	51918393	51918393	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr13:51918393A>G	ENST00000524365.1	+	5	887	c.262A>G	c.(262-264)Agg>Ggg	p.R88G	SERPINE3_ENST00000400389.4_Missense_Mutation_p.R88G|SERPINE3_ENST00000521255.1_Missense_Mutation_p.R88G			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	88					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CACAGACAAAAGGGTGAAAGA	0.488													3	40	---	---	---	---	0	0
POTEM	641455	broad.mit.edu	37	14	20019998	20019998	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:20019998T>C	ENST00000551509.1	-	1	274	c.223A>G	c.(223-225)Agc>Ggc	p.S75G		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	75										endometrium(4)|kidney(1)|lung(4)	9						CTCTTGCCGCTCCCCCTGCAC	0.587													5	382	---	---	---	---	0	0
THTPA	0	broad.mit.edu	37	14	24026160	24026160	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:24026160A>G	ENST00000288014.6	+	1	930	c.194A>G	c.(193-195)aAa>aGa	p.K65R	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.K65R|THTPA_ENST00000556015.1_Missense_Mutation_p.K65R|THTPA_ENST00000404535.3_Missense_Mutation_p.K65R|THTPA_ENST00000554970.1_Missense_Mutation_p.K65R			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	65					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	TGGGAGCTCAAATGTCCTGGA	0.572													15	27	---	---	---	---	0	0
SYNE2	23224	broad.mit.edu	37	14	64604565	64604565	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:64604565A>C	ENST00000357395.3	+	80	15006	c.3862A>C	c.(3862-3864)Aaa>Caa	p.K1288Q	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.K4820Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.K4903Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1537Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4903Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1288Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4903					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAACGAAGGCAAACAGTTGGT	0.408													28	74	---	---	---	---	0	0
UACA	55075	broad.mit.edu	37	15	70959376	70959376	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr15:70959376T>C	ENST00000322954.6	-	16	3832	c.3647A>G	c.(3646-3648)aAa>aGa	p.K1216R	UACA_ENST00000560441.1_Missense_Mutation_p.K1201R|UACA_ENST00000379983.2_Missense_Mutation_p.K1203R|UACA_ENST00000539319.1_Missense_Mutation_p.K1107R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1216						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCTAATTTTTTTAATGCTTG	0.338													18	61	---	---	---	---	0	0
SSH2	85464	broad.mit.edu	37	17	27963805	27963805	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:27963805G>T	ENST00000269033.3	-	14	1513	c.1362C>A	c.(1360-1362)aaC>aaA	p.N454K	SSH2_ENST00000540801.1_Missense_Mutation_p.N481K|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	454					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCATAGTTTGTTATGCCGCT	0.448													12	142	---	---	---	---	0	0
ERBB2	2064	broad.mit.edu	37	17	37881014	37881014	+	Silent	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:37881014T>C	ENST00000406381.2	+	22	2763	c.2253T>C	c.(2251-2253)taT>taC	p.Y751Y	ERBB2_ENST00000445658.2_Silent_p.Y505Y|ERBB2_ENST00000584601.1_Silent_p.Y751Y|ERBB2_ENST00000584450.1_Silent_p.Y781Y|ERBB2_ENST00000540147.1_Silent_p.Y751Y|ERBB2_ENST00000269571.5_Silent_p.Y781Y|ERBB2_ENST00000541774.1_Silent_p.Y766Y	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	781	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCTCCCCATATGTCTCCCGCC	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			27	65	---	---	---	---	0	0
POTEC	388468	broad.mit.edu	37	18	14542963	14542963	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr18:14542963C>T	ENST00000358970.5	-	1	182	c.183G>A	c.(181-183)atG>atA	p.M61I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	61										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AACACTTGCCCATCTTGCTCC	0.577													36	316	---	---	---	---	0	0
TYK2	7297	broad.mit.edu	37	19	10468472	10468472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:10468472C>A	ENST00000525621.1	-	17	2915	c.2434G>T	c.(2434-2436)Gag>Tag	p.E812*	TYK2_ENST00000529370.1_Nonsense_Mutation_p.E812*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.E627*|TYK2_ENST00000264818.6_Nonsense_Mutation_p.E812*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	812	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGAGGGGCCTCTCCGTCAAAG	0.642													10	21	---	---	---	---	0	0
LRFN3	79414	broad.mit.edu	37	19	36431457	36431457	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:36431457C>G	ENST00000588831.1	+	3	2184	c.1130C>G	c.(1129-1131)gCt>gGt	p.A377G	LRFN3_ENST00000246529.3_Missense_Mutation_p.A377G			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	377	Ig-like.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGGCCACAGCTGCTGTGGAG	0.662													8	29	---	---	---	---	0	0
TSSK2	23617	broad.mit.edu	37	22	19119476	19119476	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:19119476G>C	ENST00000399635.2	+	1	1156	c.564G>C	c.(562-564)caG>caC	p.Q188H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	188	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGGTGCTGCAGAGCATCCCCT	0.602													34	96	---	---	---	---	0	0
CABIN1	23523	broad.mit.edu	37	22	24460518	24460518	+	Silent	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:24460518G>A	ENST00000398319.2	+	15	2290	c.1905G>A	c.(1903-1905)ctG>ctA	p.L635L	CABIN1_ENST00000405822.2_Silent_p.L585L|CABIN1_ENST00000263119.5_Silent_p.L635L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	635					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAGGCCCTGGAGAACTATG	0.532													9	329	---	---	---	---	0	0
LRPPRC	10128	broad.mit.edu	37	2	44153050	44153050	+	Silent	SNP	T	T	C			TCGA-G9-6367-01A-11D-1786-08	TCGA-G9-6367-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f76a7b4-1889-4550-a4d1-3c3a0d1a526d	993197fc-ba4c-466d-9cc2-e08c74cd8f45	g.chr2:44153050T>C	ENST00000260665.7	-	26	2844	c.2787A>G	c.(2785-2787)agA>agG	p.R929R		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	929					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	p.R929R(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGCAACACATCTGTCACAAA	0.413													6	85	---	---	---	---	0	0
NOP58	51602	broad.mit.edu	37	2	203149110	203149110	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6367-01A-11D-1786-08	TCGA-G9-6367-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f76a7b4-1889-4550-a4d1-3c3a0d1a526d	993197fc-ba4c-466d-9cc2-e08c74cd8f45	g.chr2:203149110G>T	ENST00000264279.5	+	5	566	c.340G>T	c.(340-342)Gaa>Taa	p.E114*	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	114					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	p.E114*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TGTTGTTAATGAACTTATGAG	0.373													3	46	---	---	---	---	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555106	178555106	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6367-01A-11D-1786-08	TCGA-G9-6367-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f76a7b4-1889-4550-a4d1-3c3a0d1a526d	993197fc-ba4c-466d-9cc2-e08c74cd8f45	g.chr5:178555106C>A	ENST00000251582.7	-	17	2572	c.2471G>T	c.(2470-2472)gGa>gTa	p.G824V		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	824	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G824V(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGGGTGTCTCCCACCGGGAT	0.577													4	59	---	---	---	---	0	0
HERC5	51191	broad.mit.edu	37	4	89415467	89415467	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr4:89415467G>T	ENST00000264350.3	+	18	2582	c.2429G>T	c.(2428-2430)aGt>aTt	p.S810I	HERC5_ENST00000508159.1_Missense_Mutation_p.S448I	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	810	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	p.S810I(2)|p.S810T(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAAGAACTCAGTCCTGATTTG	0.383													3	60	---	---	---	---	0	0
NTNG1	22854	broad.mit.edu	37	1	107691217	107691217	+	Translation_Start_Site	SNP	T	T	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:107691217T>C	ENST00000370067.1	+	2	629	c.2T>C	c.(1-3)aTg>aCg	p.M1T	NTNG1_ENST00000370071.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370072.3_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370065.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370061.3_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370068.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370073.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370074.4_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370070.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000542803.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370066.1_Start_Codon_SNP_p.M1T			Q9Y2I2	NTNG1_HUMAN	netrin G1	1					axonogenesis	anchored to plasma membrane	protein binding	p.M1T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AATTTAGAGATGTATTTGTCA	0.378													3	106	---	---	---	---	0	0
IGKV1D-8	0	broad.mit.edu	37	2	90260172	90260172	+	RNA	SNP	A	A	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr2:90260172A>G	ENST00000471857.1	+	0	456																											TCTGGGACAGATTTCACTCTC	0.478													26	170	---	---	---	---	0	0
POTEF	728378	broad.mit.edu	37	2	130832500	130832500	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr2:130832500T>C	ENST00000357462.5	-	15	2638	c.2545A>G	c.(2545-2547)Act>Gct	p.T849A	POTEF_ENST00000409914.2_Missense_Mutation_p.T849A			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	849	Actin-like.					cell cortex	ATP binding	p.T849A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ACGATGCCAGTAGTACGGCCA	0.602													20	188	---	---	---	---	0	0
IL5RA	0	broad.mit.edu	37	3	3146666	3146666	+	Translation_Start_Site	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr3:3146666C>A	ENST00000446632.2	-	3	577	c.3G>T	c.(1-3)atG>atT	p.M1I	IL5RA_ENST00000311981.8_Start_Codon_SNP_p.M1I|IL5RA_ENST00000256452.3_Start_Codon_SNP_p.M1I|IL5RA_ENST00000383846.1_Start_Codon_SNP_p.M1I|IL5RA_ENST00000445864.2_Start_Codon_SNP_p.M1I|IL5RA_ENST00000438560.1_Start_Codon_SNP_p.M1I|IL5RA_ENST00000418488.2_Start_Codon_SNP_p.M1I|IL5RA_ENST00000456302.1_Start_Codon_SNP_p.M1I|IL5RA_ENST00000430514.2_Start_Codon_SNP_p.M1I	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	1					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.M1I(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CCACGATGATCATATCCTACA	0.388													3	58	---	---	---	---	0	0
IFT57	55081	broad.mit.edu	37	3	107885800	107885800	+	Silent	SNP	A	A	G	rs143767161		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr3:107885800A>G	ENST00000264538.3	-	8	1129	c.882T>C	c.(880-882)acT>acC	p.T294T	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	294					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	p.T294T(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CCAAAGTCCTAGTAATTTCAT	0.358													9	26	---	---	---	---	0	0
STPG2	285555	broad.mit.edu	37	4	99030364	99030364	+	Silent	SNP	T	T	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr4:99030364T>C	ENST00000295268.3	-	4	569	c.480A>G	c.(478-480)ccA>ccG	p.P160P		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.P160P(1)									CATACTGTCCTGGACCAGGAC	0.333													3	76	---	---	---	---	0	0
ZNF131	7690	broad.mit.edu	37	5	43139402	43139402	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:43139402T>G	ENST00000509634.1	+	3	818	c.362T>G	c.(361-363)cTt>cGt	p.L121R	ZNF131_ENST00000505606.2_Missense_Mutation_p.L121R|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.L121R|ZNF131_ENST00000399534.1_Missense_Mutation_p.L121R|ZNF131_ENST00000509156.1_Missense_Mutation_p.L121R			P52739	ZN131_HUMAN	zinc finger protein 131	121						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L121R(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCAAAGCCCTTGAAGTCAGG	0.358													3	67	---	---	---	---	0	0
APBB3	10307	broad.mit.edu	37	5	139939911	139939911	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:139939911T>A	ENST00000357560.4	-	12	1654	c.1211A>T	c.(1210-1212)cAg>cTg	p.Q404L	APBB3_ENST00000412920.3_Missense_Mutation_p.Q402L|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.Q409L|APBB3_ENST00000508496.2_Missense_Mutation_p.Q181L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q411L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	404	PID 2.					actin cytoskeleton|cytoplasm		p.Q411L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGCAGCCTGCACAGCTTC	0.617													3	64	---	---	---	---	0	0
UIMC1	51720	broad.mit.edu	37	5	176396017	176396017	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:176396017C>A	ENST00000377219.2	-	6	905	c.739G>T	c.(739-741)Gtc>Ttc	p.V247F	UIMC1_ENST00000511320.1_Missense_Mutation_p.V247F|UIMC1_ENST00000377227.4_Missense_Mutation_p.V247F|UIMC1_ENST00000506128.1_Intron	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	247				V -> C (in Ref. 3; AAG59851).	double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	p.V247F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACCCTGGACAGCTTTGAGA	0.527													6	145	---	---	---	---	0	0
TUBB2B	347733	broad.mit.edu	37	6	3226894	3226894	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:3226894C>A	ENST00000259818.7	-	2	258	c.67G>T	c.(67-69)Gtc>Ttc	p.V23F	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	23					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.V23F(1)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TCACTGATGACCTCCCAAAAC	0.498													15	158	---	---	---	---	0	0
PGM3	5238	broad.mit.edu	37	6	83898366	83898366	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:83898366T>A	ENST00000513973.1	-	3	472	c.356A>T	c.(355-357)cAa>cTa	p.Q119L	PGM3_ENST00000283977.4_Missense_Mutation_p.Q38L|PGM3_ENST00000506587.1_Missense_Mutation_p.Q147L|PGM3_ENST00000512866.1_Missense_Mutation_p.Q119L	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	119					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	p.Q119L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AAAGGCATCTTGTTGCAGATT	0.398													5	81	---	---	---	---	0	0
HGF	3082	broad.mit.edu	37	7	81346562	81346562	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:81346562C>T	ENST00000222390.5	-	11	1617	c.1391G>A	c.(1390-1392)tGc>tAc	p.C464Y	HGF_ENST00000457544.2_Missense_Mutation_p.C459Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	464	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.C464Y(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGAAATAGGGCAATAATCCCA	0.383													8	72	---	---	---	---	0	0
SLC4A2	6522	broad.mit.edu	37	7	150773232	150773232	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:150773232G>A	ENST00000485713.1	+	22	4644	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1193M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1202M|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1188M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1120M	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1202	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	p.V1202M(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCCGCATGGTGGTGCTCAC	0.627													6	137	---	---	---	---	0	0
FFAR4	338557	broad.mit.edu	37	10	95326921	95326921	+	Silent	SNP	G	G	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr10:95326921G>T	ENST00000371483.4	+	1	500	c.444G>T	c.(442-444)cgG>cgT	p.R148R	FFAR4_ENST00000604414.1_Silent_p.R148R|FFAR4_ENST00000371481.4_Silent_p.R148R	NM_181745.3	NP_859529.2			free fatty acid receptor 4									p.R148R(1)									GCGGCGTGCGGGGTCCTGGGC	0.701													4	14	---	---	---	---	0	0
CPXM2	119587	broad.mit.edu	37	10	125530493	125530493	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr10:125530493G>T	ENST00000241305.3	-	8	1195	c.1041C>A	c.(1039-1041)agC>agA	p.S347R	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	347					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.S347R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGCCCTGGTGGCTTTTTCCAA	0.458													45	284	---	---	---	---	0	0
OR5L2	26338	broad.mit.edu	37	11	55595260	55595260	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr11:55595260G>T	ENST00000378397.1	+	1	566	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C189F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AGTCTTGCTTGCTCTGATGTC	0.448										HNSCC(27;0.073)			54	117	---	---	---	---	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498442	118498442	+	Silent	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr11:118498442C>A	ENST00000361417.2	+	7	1314	c.903C>A	c.(901-903)tcC>tcA	p.S301S	PHLDB1_ENST00000356063.5_Silent_p.S301S	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	301								p.S301S(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCACAGTCCCGCCCAAGTG	0.672													4	73	---	---	---	---	0	0
KDM5A	5927	broad.mit.edu	37	12	417035	417035	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:417035C>A	ENST00000399788.2	-	23	3877	c.3515G>T	c.(3514-3516)gGg>gTg	p.G1172V	KDM5A_ENST00000382815.4_Missense_Mutation_p.G1172V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1172					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1172V(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TAGCATAAACCCACTGGCTGT	0.463			T	NUP98	AML								11	137	---	---	---	---	0	0
SLC8B1	80024	broad.mit.edu	37	12	113748079	113748079	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:113748079A>C	ENST00000552014.1	-	13	1732	c.1217T>G	c.(1216-1218)tTt>tGt	p.F406C	SLC8B1_ENST00000202831.3_Missense_Mutation_p.F406C|SLC8B1_ENST00000546737.1_Missense_Mutation_p.F350C|SLC8B1_ENST00000553238.1_5'UTR					solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	406								p.F406C(1)									TGTGGCAAAAAAGGTCACTGA	0.587													5	82	---	---	---	---	0	0
GOLGA3	2802	broad.mit.edu	37	12	133351742	133351742	+	Silent	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:133351742G>A	ENST00000204726.3	-	22	4686	c.4128C>T	c.(4126-4128)cgC>cgT	p.R1376R	GOLGA3_ENST00000450791.2_Silent_p.R1376R|GOLGA3_ENST00000456883.2_Silent_p.R1376R	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1376					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.R1376R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGGCCGCGCCGCGGCGTAGGT	0.587													6	57	---	---	---	---	0	0
PCDH20	64881	broad.mit.edu	37	13	61985844	61985844	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr13:61985844C>A	ENST00000409186.1	-	5	4493	c.2388G>T	c.(2386-2388)agG>agT	p.R796S	PCDH20_ENST00000409204.4_Missense_Mutation_p.R796S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	769	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TAGGGTCAATCCTGAAGGACT	0.468													4	119	---	---	---	---	0	0
GRK1	6011	broad.mit.edu	37	13	114324084	114324084	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr13:114324084C>G	ENST00000335678.6	+	2	1014	c.782C>G	c.(781-783)gCc>gGc	p.A261G		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	261	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	p.A261G(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GAAACCAAAGCCGACCTCTGT	0.557													4	154	---	---	---	---	0	0
ANG	283	broad.mit.edu	37	14	21161988	21161988	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr14:21161988C>T	ENST00000336811.6	+	2	865	c.265C>T	c.(265-267)Cac>Tac	p.H89Y	ANG_ENST00000397990.4_Missense_Mutation_p.H89Y|RNASE4_ENST00000304704.4_Intron|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000397995.2_Intron|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000555835.1_Intron|AL163636.6_ENST00000553909.1_Intron|RP11-903H12.3_ENST00000554286.1_RNA	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	89					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding	p.H89Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		TGGAAACCCTCACAGAGAAAA	0.507													4	65	---	---	---	---	0	0
ITPK1	3705	broad.mit.edu	37	14	93404856	93404856	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr14:93404856C>T	ENST00000354313.3	-	11	1205	c.917G>A	c.(916-918)tGc>tAc	p.C306Y	ITPK1_ENST00000267615.6_3'UTR	NM_001142594.1	NP_001136066.1	Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	0	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	p.C306Y(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TTCTATAAAGCACACTTGGCA	0.527													4	44	---	---	---	---	0	0
SLC6A4	6532	broad.mit.edu	37	17	28548700	28548700	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:28548700T>G	ENST00000401766.2	-	2	789	c.277A>C	c.(277-279)Att>Ctt	p.I93L	SLC6A4_ENST00000261707.3_Missense_Mutation_p.I93L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	93					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	p.I93L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GCATAGCCAATCACTGAGAGA	0.562													10	118	---	---	---	---	0	0
ENPP7	339221	broad.mit.edu	37	17	77710932	77710932	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:77710932C>A	ENST00000328313.5	+	4	1340	c.1119C>A	c.(1117-1119)ttC>ttA	p.F373L		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	373					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.F373L(5)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCTAGCTTCAGGGCGGGCC	0.607													4	86	---	---	---	---	0	0
SBK2	646643	broad.mit.edu	37	19	56041233	56041233	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr19:56041233C>T	ENST00000413299.1	-	4	951	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	SBK2_ENST00000344158.3_Missense_Mutation_p.R305Q	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	305	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.R305Q(3)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CAGCAGCCCCCGCAGAAGCGC	0.741													4	26	---	---	---	---	0	0
ZFP28	140612	broad.mit.edu	37	19	57065989	57065989	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr19:57065989C>T	ENST00000301318.3	+	8	1906	c.1835C>T	c.(1834-1836)aCt>aTt	p.T612I	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T612I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGGATTCATACTGGGGAGAAG	0.428													9	138	---	---	---	---	0	0
LTN1	26046	broad.mit.edu	37	21	30339290	30339290	+	Missense_Mutation	SNP	T	T	G	rs113622445	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr21:30339290T>G	ENST00000389194.2	-	10	1666	c.1661A>C	c.(1660-1662)gAt>gCt	p.D554A	LTN1_ENST00000361371.5_Missense_Mutation_p.D508A|LTN1_ENST00000389195.2_Missense_Mutation_p.D554A	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	508							ligase activity|zinc ion binding	p.D508A(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGACTCAACATCAGCTTCTGG	0.393													10	117	---	---	---	---	0	0
TCN2	6948	broad.mit.edu	37	22	31022486	31022486	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr22:31022486A>T	ENST00000215838.3	+	9	1756	c.1262A>T	c.(1261-1263)gAg>gTg	p.E421V	TCN2_ENST00000407817.3_Missense_Mutation_p.E394V|TCN2_ENST00000405742.3_Missense_Mutation_p.E417V			P20062	TCO2_HUMAN	transcobalamin II	421					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	p.E421V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAACCATTGAGCTGAGGCTG	0.567													13	50	---	---	---	---	0	0
SREBF2	6721	broad.mit.edu	37	22	42264696	42264696	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr22:42264696A>T	ENST00000361204.4	+	3	786	c.620A>T	c.(619-621)cAg>cTg	p.Q207L		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	207	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	p.Q207L(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAGACAGTACAGGCCCAGCGG	0.612													14	28	---	---	---	---	0	0
PINK1	65018	broad.mit.edu	37	1	20964582	20964582	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:20964582C>A	ENST00000321556.4	+	2	729	c.635C>A	c.(634-636)cCt>cAt	p.P212H		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	212	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGGGGGCCCCTGCCTTCCCC	0.577													4	52	---	---	---	---	0	0
SGIP1	84251	broad.mit.edu	37	1	67147695	67147695	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:67147695C>A	ENST00000371037.4	+	15	1035	c.958C>A	c.(958-960)Ccg>Acg	p.P320T	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P324T|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	320	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGATACATCCCCGGAACATGT	0.512													8	183	---	---	---	---	0	0
C1orf173	127254	broad.mit.edu	37	1	75038906	75038906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:75038906C>A	ENST00000326665.5	-	14	2706	c.2488G>T	c.(2488-2490)Gag>Tag	p.E830*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	830	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAGGGATCTCCCTTTTTTCT	0.572													13	130	---	---	---	---	0	0
MCOLN3	55283	broad.mit.edu	37	1	85498463	85498463	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:85498463C>A	ENST00000370587.1	-	7	1024	c.648G>T	c.(646-648)gtG>gtT	p.V216V	MCOLN3_ENST00000370589.2_Silent_p.V216V|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.V160V			Q8TDD5	MCLN3_HUMAN	mucolipin 3	216						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ACTGAAGCTCCACTGTTAGGA	0.443													7	203	---	---	---	---	0	0
PALMD	54873	broad.mit.edu	37	1	100154852	100154852	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:100154852A>T	ENST00000263174.4	+	7	1411	c.1036A>T	c.(1036-1038)Agg>Tgg	p.R346W	PALMD_ENST00000605497.1_Missense_Mutation_p.R346W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	346					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCCGCAAAAAAGGCTAATGAC	0.488													15	27	---	---	---	---	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131388	150131388	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:150131388C>A	ENST00000369124.4	+	6	1178	c.900C>A	c.(898-900)ccC>ccA	p.P300P	PLEKHO1_ENST00000025469.6_Silent_p.P266P|PLEKHO1_ENST00000369126.1_Silent_p.P117P	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	300	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCCCTCCCCAACCCGGGGC	0.662													5	69	---	---	---	---	0	0
PRPF3	9129	broad.mit.edu	37	1	150297416	150297416	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:150297416A>G	ENST00000324862.6	+	2	181	c.16A>G	c.(16-18)Agg>Ggg	p.R6G	PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	6	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACTGTCAAAGAGGGAGCTGGA	0.423													7	128	---	---	---	---	0	0
RAB13	5872	broad.mit.edu	37	1	153954901	153954901	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:153954901C>A	ENST00000368575.3	-	7	615	c.500G>T	c.(499-501)cGg>cTg	p.R167L	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	167					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	p.R167L(2)		breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGATGTCCCGGGCCAGGGA	0.507													6	216	---	---	---	---	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834872	178834872	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:178834872G>T	ENST00000234816.2	-	3	487	c.40C>A	c.(40-42)Cta>Ata	p.L14I	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L14I	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	14						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCCACTAGTAGGAAGAATAGC	0.378													5	64	---	---	---	---	0	0
TNNI1	7135	broad.mit.edu	37	1	201382239	201382239	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:201382239C>A	ENST00000361379.4	-	6	292	c.200G>T	c.(199-201)cGg>cTg	p.R67L	TNNI1_ENST00000336092.4_Missense_Mutation_p.R67L|TNNI1_ENST00000555948.1_Missense_Mutation_p.R67L|TNNI1_ENST00000367312.1_Missense_Mutation_p.R67L	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	67			R -> W (in dbSNP:rs2296695).		muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	p.R67L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GTGCAGCTCCCGGCACAGGTC	0.592													7	264	---	---	---	---	0	0
DPYSL5	56896	broad.mit.edu	37	2	27165567	27165567	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:27165567C>A	ENST00000288699.6	+	11	1547	c.1389C>A	c.(1387-1389)ccC>ccA	p.P463P	DPYSL5_ENST00000401478.1_Silent_p.P463P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	463					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCTGTCCCCTGAGGTCCT	0.647											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	82	---	---	---	---	0	0
SLC4A5	57835	broad.mit.edu	37	2	74481805	74481805	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:74481805C>A	ENST00000394019.2	-	14	1451	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W	SLC4A5_ENST00000358683.4_Missense_Mutation_p.G288W|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G352W|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G352W|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G352W|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G288W	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	352						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.G352W(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTTGCTCTCCCAGAAGGTCCC	0.428													7	248	---	---	---	---	0	0
ZNF514	84874	broad.mit.edu	37	2	95815602	95815602	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:95815602C>A	ENST00000295208.2	-	5	1090	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W	ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						AAGGACTTCCCACACTCATTA	0.443													7	162	---	---	---	---	0	0
POTEE	445582	broad.mit.edu	37	2	131976433	131976433	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:131976433C>A	ENST00000356920.5	+	1	552	c.458C>A	c.(457-459)cCc>cAc	p.P153H	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P153H|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	153							ATP binding										GGTAAAGTCCCCAGAAAGGAT	0.577													6	153	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179413531	179413531	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:179413531G>T	ENST00000589042.1	-	339	93046	c.92822C>A	c.(92821-92823)gCc>gAc	p.A30941D	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A29300D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28373D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A22001D|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A22068D|TTN_ENST00000460472.2_Missense_Mutation_p.A21876D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29300	Fibronectin type-III 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGAATACTGGCCCCAGCTCT	0.468													4	69	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179647700	179647700	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:179647700C>A	ENST00000589042.1	-	18	3157	c.2933G>T	c.(2932-2934)aGg>aTg	p.R978M	TTN_ENST00000360870.5_Missense_Mutation_p.R978M|TTN_ENST00000591111.1_Missense_Mutation_p.R978M|TTN_ENST00000342992.6_Missense_Mutation_p.R978M|TTN_ENST00000359218.5_Missense_Mutation_p.R932M|TTN_ENST00000342175.6_Missense_Mutation_p.R932M|TTN_ENST00000460472.2_Missense_Mutation_p.R932M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	978	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGTCTTCCCTGTACCATGT	0.473													5	82	---	---	---	---	0	0
NABP1	64859	broad.mit.edu	37	2	192549021	192549021	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:192549021G>T	ENST00000410026.2	+	5	459	c.204G>T	c.(202-204)gtG>gtT	p.V68V	NABP1_ENST00000409510.1_Splice_Site_p.V68V|NABP1_ENST00000425611.2_Splice_Site_p.V148V	NM_001254736.1	NP_001241665.1			nucleic acid binding protein 1																		TTGGACCAGTGGGTAAGATTT	0.333													6	100	---	---	---	---	0	0
FN1	2335	broad.mit.edu	37	2	216230308	216230308	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:216230308C>A	ENST00000354785.4	-	43	7433	c.7064G>T	c.(7063-7065)tGg>tTg	p.W2355L	FN1_ENST00000345488.5_Missense_Mutation_p.W2062L|FN1_ENST00000357867.4_Missense_Mutation_p.W2054L|FN1_ENST00000446046.1_Missense_Mutation_p.W2208L|FN1_ENST00000443816.1_Missense_Mutation_p.W2143L|FN1_ENST00000323926.6_Missense_Mutation_p.W2324L|FN1_ENST00000356005.4_Missense_Mutation_p.W2174L|FN1_ENST00000432072.2_Missense_Mutation_p.W2145L|FN1_ENST00000336916.4_Missense_Mutation_p.W2233L|FN1_ENST00000359671.1_Missense_Mutation_p.W2264L|FN1_ENST00000346544.3_Missense_Mutation_p.W2089L|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.W2118L			P02751	FINC_HUMAN	fibronectin 1	2264					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGACGGTCCCACTTCTCTCC	0.458													6	112	---	---	---	---	0	0
CHL1	10752	broad.mit.edu	37	3	401998	401998	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:401998C>A	ENST00000256509.2	+	12	1839	c.1197C>A	c.(1195-1197)ccC>ccA	p.P399P	CHL1_ENST00000397491.2_Silent_p.P383P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	383	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P399P(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGTCTTCCCCAGGGAAATCA	0.373													6	117	---	---	---	---	0	0
OXTR	5021	broad.mit.edu	37	3	8794680	8794680	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:8794680G>T	ENST00000316793.3	-	4	1777	c.1153C>A	c.(1153-1155)Cag>Aag	p.Q385K	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	385					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GTGGATGGCTGGGAGCAGCTC	0.622													4	42	---	---	---	---	0	0
OSBPL10	114884	broad.mit.edu	37	3	31703609	31703609	+	Splice_Site	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:31703609C>A	ENST00000396556.2	-	12	2373		c.e12-1		OSBPL10_ENST00000438237.2_Splice_Site	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10						lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AGCCATCGCCCTGCAAGAGAA	0.488													7	89	---	---	---	---	0	0
DLEC1	9940	broad.mit.edu	37	3	38129853	38129853	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:38129853G>A	ENST00000308059.6	+	10	1660	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T	DLEC1_ENST00000346219.3_Missense_Mutation_p.A547T|DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	547					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTTGAGCTGGCCCCGGGACA	0.458													5	138	---	---	---	---	0	0
RBM5	10181	broad.mit.edu	37	3	50150853	50150853	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:50150853G>T	ENST00000347869.3	+	18	1668	c.1493G>T	c.(1492-1494)tGg>tTg	p.W498L	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	498	Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTTACTGGGATGGGGAA	0.448													5	74	---	---	---	---	0	0
ROBO1	6091	broad.mit.edu	37	3	78656036	78656036	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:78656036C>A	ENST00000436010.2	-	27	5471	c.4474G>T	c.(4474-4476)Ggg>Tgg	p.G1492W	ROBO1_ENST00000495273.1_Missense_Mutation_p.G1486W|ROBO1_ENST00000464233.1_Missense_Mutation_p.G1531W|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1431W			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1531					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTTCTCTCCCCTTGTAACTG	0.483													12	522	---	---	---	---	0	0
DNAJC13	23317	broad.mit.edu	37	3	132165395	132165395	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:132165395G>T	ENST00000260818.6	+	3	392		c.e3+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13								heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACAAATCAGGTAATCCTGTT	0.368													17	28	---	---	---	---	0	0
PLCH1	23007	broad.mit.edu	37	3	155241768	155241768	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:155241768C>A	ENST00000460012.1	-	11	1655	c.1298G>T	c.(1297-1299)gGg>gTg	p.G433V	PLCH1_ENST00000414191.1_Missense_Mutation_p.G433V|PLCH1_ENST00000447496.2_Missense_Mutation_p.G451V|PLCH1_ENST00000334686.6_Missense_Mutation_p.G433V|PLCH1_ENST00000340059.7_Missense_Mutation_p.G451V|PLCH1_ENST00000494598.1_Missense_Mutation_p.G451V			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	451	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCATCATCCCCAAGGTGATA	0.413													7	203	---	---	---	---	0	0
MUC4	4585	broad.mit.edu	37	3	195491914	195491914	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:195491914C>A	ENST00000463781.3	-	10	14337	c.13878G>T	c.(13876-13878)tgG>tgT	p.W4626C	MUC4_ENST00000349607.4_Missense_Mutation_p.W339C|MUC4_ENST00000346145.4_Missense_Mutation_p.W390C|MUC4_ENST00000475231.1_Missense_Mutation_p.W4574C	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1383					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAACTCTCCCCAGGGCCCGT	0.637													5	55	---	---	---	---	0	0
EVC	2121	broad.mit.edu	37	4	5806552	5806552	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:5806552C>A	ENST00000382674.2	+	17	2729	c.2545C>A	c.(2545-2547)Cag>Aag	p.Q849K	EVC_ENST00000264956.6_Missense_Mutation_p.Q849K			P57679	EVC_HUMAN	Ellis van Creveld syndrome	849					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGAGACCTCCCAGGCGGTCCA	0.567													5	86	---	---	---	---	0	0
FBXL5	26234	broad.mit.edu	37	4	15640193	15640193	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:15640193C>A	ENST00000341285.3	-	4	645	c.521G>T	c.(520-522)tGg>tTg	p.W174L	FBXL5_ENST00000382358.4_Missense_Mutation_p.W48L|FBXL5_ENST00000412094.2_Missense_Mutation_p.W157L	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	174					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGCATGATTCCATAGGCTAAG	0.338													4	49	---	---	---	---	0	0
SLIT2	9353	broad.mit.edu	37	4	20255579	20255579	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:20255579C>A	ENST00000504154.1	+	1	393	c.141C>A	c.(139-141)cgC>cgA	p.R47R	SLIT2_ENST00000503823.1_Silent_p.R47R|SLIT2_ENST00000273739.5_Silent_p.R47R|SLIT2_ENST00000503837.1_Silent_p.R47R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	47	LRRNT.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGCGCTGCGCAGCGTGCCCA	0.667													8	129	---	---	---	---	0	0
KDR	3791	broad.mit.edu	37	4	55979609	55979609	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:55979609G>T	ENST00000263923.4	-	7	1133	c.838C>A	c.(838-840)Cag>Aag	p.Q280K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	280	Ig-like C2-type 3.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGACTGGGTTTTTAGG	0.418			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	78	---	---	---	---	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978626	119978626	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:119978626A>G	ENST00000307142.4	+	5	3519	c.3323A>G	c.(3322-3324)tAc>tGc	p.Y1108C	SYNPO2_ENST00000448416.2_Missense_Mutation_p.T110A	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	765						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTTGGGTATACCAGCCTACT	0.448													22	56	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126412062	126412062	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:126412062C>A	ENST00000394329.3	+	17	14098	c.14085C>A	c.(14083-14085)ccC>ccA	p.P4695P	FAT4_ENST00000335110.5_Silent_p.P2936P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4695					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCCAACTCCCAACCCTCTGT	0.498													7	127	---	---	---	---	0	0
DNAH5	1767	broad.mit.edu	37	5	13923454	13923454	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:13923454C>A	ENST00000265104.4	-	4	477	c.373G>T	c.(373-375)Ggg>Tgg	p.G125W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	125	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G125W(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACACATACCCCAGTAAGAGCC	0.468									Kartagener syndrome				8	220	---	---	---	---	0	0
ITGA2	3673	broad.mit.edu	37	5	52362978	52362978	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:52362978A>C	ENST00000296585.5	+	16	2117	c.1974A>C	c.(1972-1974)gaA>gaC	p.E658D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	658					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TAGCTATAGAAGCTTCATTCA	0.353													3	38	---	---	---	---	0	0
PSD2	84249	broad.mit.edu	37	5	139215340	139215340	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:139215340G>T	ENST00000274710.3	+	9	1597	c.1392G>T	c.(1390-1392)ctG>ctT	p.L464L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	464					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAAAGCTGGAATGGGCCA	0.532													9	328	---	---	---	---	0	0
PCDHGC3	0	broad.mit.edu	37	5	140857734	140857734	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:140857734G>T	ENST00000308177.3	+	1	2155	c.2051G>T	c.(2050-2052)cGg>cTg	p.R684L	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCCCCCCGGGAGCAGAAA	0.507											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	229	---	---	---	---	0	0
OR14J1	442191	broad.mit.edu	37	6	29275320	29275320	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:29275320C>A	ENST00000377160.2	+	1	918	c.854C>A	c.(853-855)cCa>cAa	p.P285Q		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P285Q(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ACACTCAATCCAGTCATTTAT	0.443													6	126	---	---	---	---	0	0
PRRC2A	7916	broad.mit.edu	37	6	31605230	31605230	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:31605230C>A	ENST00000376033.2	+	31	6575	c.6341C>A	c.(6340-6342)cCa>cAa	p.P2114Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P2114Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2114						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TAGGCCTCCCCACCAGATGCC	0.612													8	246	---	---	---	---	0	0
XPO5	57510	broad.mit.edu	37	6	43538333	43538333	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:43538333C>A	ENST00000265351.7	-	5	737	c.527G>T	c.(526-528)aGg>aTg	p.R176M		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	176					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTGGATGTCCCTTCTTCTTTG	0.413													7	201	---	---	---	---	0	0
MEP1A	4224	broad.mit.edu	37	6	46793078	46793078	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:46793078A>C	ENST00000230588.4	+	8	635	c.626A>C	c.(625-627)gAg>gCg	p.E209A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	209	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGATTATGAGTCTTTGATG	0.443													5	85	---	---	---	---	0	0
DST	667	broad.mit.edu	37	6	56468037	56468037	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:56468037G>A	ENST00000370754.5	-	41	11023	c.11024C>T	c.(11023-11025)aCg>aTg	p.T3675M	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.T3497M|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.T3497M|DST_ENST00000446842.2_Missense_Mutation_p.T3171M|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.T3497M			Q03001	DYST_HUMAN	dystonin	3497					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATCTGTTTCGTTCTTTCTGA	0.388													14	13	---	---	---	---	0	0
UTRN	7402	broad.mit.edu	37	6	144747493	144747493	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:144747493G>T	ENST00000367545.3	+	6	476	c.476G>T	c.(475-477)tGg>tTg	p.W159L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	159	Actin-binding.|CH 2.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGCTCAGCTGGGTGCGTCAG	0.527													6	94	---	---	---	---	0	0
PHF10	55274	broad.mit.edu	37	6	170114863	170114863	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:170114863G>C	ENST00000339209.4	-	7	892	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	PHF10_ENST00000366780.4_Missense_Mutation_p.L255V	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	257	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CCGGGGATGAGAGCCACTGGG	0.418													14	169	---	---	---	---	0	0
SPDYE1	285955	broad.mit.edu	37	7	44040843	44040843	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:44040843C>A	ENST00000258704.3	+	1	356	c.219C>A	c.(217-219)ccC>ccA	p.P73P	RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	73										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GAGTGTCACCCATCCTCCTTG	0.552													4	35	---	---	---	---	0	0
SGCE	8910	broad.mit.edu	37	7	94214814	94214814	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:94214814G>T	ENST00000428696.2	-	11	1318	c.1319C>A	c.(1318-1320)cCt>cAt	p.P440H	SGCE_ENST00000437425.2_Silent_p.P396P|SGCE_ENST00000445866.2_Silent_p.P462P|SGCE_ENST00000447873.1_Silent_p.P428P|SGCE_ENST00000265735.7_Silent_p.P437P	NM_001099400.1	NP_001092870.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	0					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TCTTTCTTCAGGGATACCATT	0.363													11	341	---	---	---	---	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123537	99123537	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:99123537C>A	ENST00000394170.2	+	6	1125	c.874C>A	c.(874-876)Cag>Aag	p.Q292K	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q292K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q292K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	292					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAGCGTTCCTCAGGATCCAGA	0.498													6	126	---	---	---	---	0	0
SLC12A9	56996	broad.mit.edu	37	7	100463781	100463781	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:100463781C>A	ENST00000354161.3	+	14	2424	c.2299C>A	c.(2299-2301)Cgg>Agg	p.R767R		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	767						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGCCCGGCTCCGGATCTTCCT	0.706													5	89	---	---	---	---	0	0
LAMB1	3912	broad.mit.edu	37	7	107580685	107580685	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:107580685C>A	ENST00000393561.1	-	23	3766	c.3582G>T	c.(3580-3582)tcG>tcT	p.S1194S	LAMB1_ENST00000222399.6_Silent_p.S1170S			P07942	LAMB1_HUMAN	laminin, beta 1	1170	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S1170S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAAGACCCCCGAGTACCCTC	0.592													7	111	---	---	---	---	0	0
TTC26	79989	broad.mit.edu	37	7	138824682	138824682	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:138824682G>T	ENST00000464848.1	+	4	361	c.281G>T	c.(280-282)tGg>tTg	p.W94L	TTC26_ENST00000430935.1_Missense_Mutation_p.W94L|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.W94L|TTC26_ENST00000343187.4_Missense_Mutation_p.W63L|TTC26_ENST00000478836.2_Missense_Mutation_p.W94L|TTC26_ENST00000495038.1_Missense_Mutation_p.W94L			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	94							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TCTGAAGTCTGGGTGAACCTA	0.378													5	91	---	---	---	---	0	0
DENND2A	27147	broad.mit.edu	37	7	140223198	140223198	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:140223198G>T	ENST00000275884.6	-	16	2991	c.2574C>A	c.(2572-2574)ccC>ccA	p.P858P	DENND2A_ENST00000537639.1_Silent_p.P858P|DENND2A_ENST00000496613.1_Silent_p.P858P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	858										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAAGCTTCCGGGGCAGGATGG	0.597													5	67	---	---	---	---	0	0
ZNF862	643641	broad.mit.edu	37	7	149547345	149547345	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:149547345G>T	ENST00000223210.4	+	5	1280	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	345	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TCACCCGGGAGGAGTGGGGCA	0.587													4	27	---	---	---	---	0	0
KCNU1	157855	broad.mit.edu	37	8	36767015	36767015	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:36767015C>A	ENST00000399881.3	+	21	2330	c.2293C>A	c.(2293-2295)Cga>Aga	p.R765R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	765						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R765G(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAGAGAATGGCGATTTCTCTG	0.378													5	159	---	---	---	---	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578551	67578551	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:67578551C>A	ENST00000310421.4	-	1	901	c.643G>T	c.(643-645)Ggg>Tgg	p.G215W		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	215	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGTCCATCCCCGTCCACATGC	0.522													5	115	---	---	---	---	0	0
LRP12	29967	broad.mit.edu	37	8	105503275	105503275	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:105503275C>A	ENST00000276654.5	-	7	2314	c.2206G>T	c.(2206-2208)Ggg>Tgg	p.G736W	LRP12_ENST00000424843.2_Missense_Mutation_p.G717W|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	736					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CAGCGTAGCCCCTGAGTCATA	0.483													6	88	---	---	---	---	0	0
TG	7038	broad.mit.edu	37	8	133935616	133935616	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:133935616T>A	ENST00000220616.4	+	22	4602	c.4562T>A	c.(4561-4563)cTg>cAg	p.L1521Q	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1521	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGCAGGCCTGCAATGTGAC	0.577													7	94	---	---	---	---	0	0
FAM135B	51059	broad.mit.edu	37	8	139164039	139164039	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:139164039G>T	ENST00000395297.1	-	13	2849	c.2679C>A	c.(2677-2679)acC>acA	p.T893T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	893										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAGAGATCTGGTCCTGGGGT	0.468										HNSCC(54;0.14)			6	164	---	---	---	---	0	0
TRPM6	140803	broad.mit.edu	37	9	77377204	77377204	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:77377204A>C	ENST00000451710.3	-	26	4620	c.4383T>G	c.(4381-4383)gaT>gaG	p.D1461E	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1461E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1461					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACCAGTTTCATCACCTTCTG	0.493													44	98	---	---	---	---	0	0
SPTLC1	10558	broad.mit.edu	37	9	94877638	94877638	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:94877638C>A	ENST00000262554.2	-	1	20	c.15G>T	c.(13-15)acG>acT	p.T5T	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Silent_p.T5T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	5						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCCACTGCTCCGTGGCGGTCG	0.657													4	60	---	---	---	---	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24909324	24909324	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:24909324C>A	ENST00000396432.2	-	9	1986	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E287D	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	499					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CATCCTGTCCCTCAATATAAT	0.393													5	84	---	---	---	---	0	0
GDF10	2662	broad.mit.edu	37	10	48426603	48426603	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:48426603G>T	ENST00000224605.2	-	3	1669	c.1404C>A	c.(1402-1404)ccC>ccA	p.P468P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	468					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGGACATGTTGGGGTACACCT	0.587											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	146	---	---	---	---	0	0
DDX50	79009	broad.mit.edu	37	10	70666556	70666556	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:70666556C>A	ENST00000373585.3	+	2	284	c.177C>A	c.(175-177)ccC>ccA	p.P59P		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	59						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TGGATGCTCCCAAGGCCAAAA	0.378													6	97	---	---	---	---	0	0
IFIT5	24138	broad.mit.edu	37	10	91177698	91177698	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:91177698C>A	ENST00000371795.4	+	2	955	c.742C>A	c.(742-744)Cag>Aag	p.Q248K	IFIT5_ENST00000416601.1_Missense_Mutation_p.Q200K	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	248							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AATATCATCCCAGCCTTACGT	0.413													5	73	---	---	---	---	0	0
TCF7L2	6934	broad.mit.edu	37	10	114711014	114711014	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:114711014C>A	ENST00000355995.4	+	2	745	c.238C>A	c.(238-240)Cgg>Agg	p.R80R	TCF7L2_ENST00000538897.1_Silent_p.R80R|TCF7L2_ENST00000534894.1_Silent_p.R80R|TCF7L2_ENST00000352065.5_Silent_p.R80R|TCF7L2_ENST00000349937.2_Silent_p.R80R|TCF7L2_ENST00000543371.1_Silent_p.R80R|TCF7L2_ENST00000369395.1_Silent_p.R80R|TCF7L2_ENST00000536810.1_Silent_p.R80R|TCF7L2_ENST00000369397.4_Silent_p.R80R|TCF7L2_ENST00000355717.4_Silent_p.R80R|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000545257.1_Silent_p.R80R			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	80					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGACAAATCCCGGGAAAGTTT	0.746			T	VTI1A	colorectal								3	14	---	---	---	---	0	0
TCERG1L	256536	broad.mit.edu	37	10	132915191	132915191	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:132915191T>A	ENST00000368642.4	-	9	1351	c.1266A>T	c.(1264-1266)gaA>gaT	p.E422D		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	422										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCCCGCAGCCTTCGGTCCTTC	0.567													6	18	---	---	---	---	0	0
TRIM68	55128	broad.mit.edu	37	11	4623608	4623608	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:4623608C>A	ENST00000300747.5	-	4	846	c.557G>T	c.(556-558)tGg>tTg	p.W186L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	186					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCAAACTCCCATACAATACT	0.498													4	41	---	---	---	---	0	0
AMBRA1	55626	broad.mit.edu	37	11	46569829	46569829	+	Missense_Mutation	SNP	T	T	A	rs17854361		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:46569829T>A	ENST00000458649.2	-	2	520	c.102A>T	c.(100-102)gaA>gaT	p.E34D	AMBRA1_ENST00000534300.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E34D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	34					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGTTTTATCTTCTACCAGCT	0.512													15	427	---	---	---	---	0	0
OR5R1	219479	broad.mit.edu	37	11	56185184	56185184	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:56185184G>C	ENST00000312253.1	-	1	524	c.525C>G	c.(523-525)aaC>aaG	p.N175K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AATAGAAATGGTTAATTAAGT	0.433													20	98	---	---	---	---	0	0
PRG2	5553	broad.mit.edu	37	11	57156158	57156158	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:57156158C>A	ENST00000311862.5	-	4	463	c.390G>T	c.(388-390)agG>agT	p.R130S	PRG2_ENST00000533605.1_Missense_Mutation_p.R119S|PRG2_ENST00000525955.1_Missense_Mutation_p.R130S	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGTTGCCCCTGTAGCACC	0.473													6	91	---	---	---	---	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71277128	71277128	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:71277128C>A	ENST00000398531.1	+	1	520	c.495C>A	c.(493-495)ccC>ccA	p.P165P	KRTAP5-10_ENST00000376536.4_Silent_p.P117P	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	165	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						gctgcaatccctgctgctgcc	0.632													8	188	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92087998	92087998	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:92087998G>T	ENST00000298047.6	+	1	2737	c.2720G>T	c.(2719-2721)aGg>aTg	p.R907M	FAT3_ENST00000409404.2_Missense_Mutation_p.R907M|FAT3_ENST00000525166.1_Missense_Mutation_p.R757M|FAT3_ENST00000541502.1_Missense_Mutation_p.R907M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	907	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATAGAAGCCAGGGACAAGGCA	0.443										TCGA Ovarian(4;0.039)			7	177	---	---	---	---	0	0
PRDM10	56980	broad.mit.edu	37	11	129772217	129772217	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:129772217G>T	ENST00000358825.5	-	22	3705	c.3474C>A	c.(3472-3474)acC>acA	p.T1158T	PRDM10_ENST00000528746.1_Silent_p.T1115T|PRDM10_ENST00000526082.1_Silent_p.T1072T|PRDM10_ENST00000423662.2_Silent_p.T1059T|PRDM10_ENST00000360871.3_Silent_p.T1154T|PRDM10_ENST00000304538.6_Silent_p.T1021T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTCATGGTTTGGTGATATGCA	0.512													6	152	---	---	---	---	0	0
PRDM10	56980	broad.mit.edu	37	11	129785692	129785692	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:129785692G>T	ENST00000358825.5	-	17	2632	c.2401C>A	c.(2401-2403)Cca>Aca	p.P801T	PRDM10_ENST00000528746.1_Missense_Mutation_p.P771T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P715T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P715T|PRDM10_ENST00000360871.3_Missense_Mutation_p.P797T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P711T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	801					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ATGCTCGGTGGGAGCTCTGCT	0.582													7	169	---	---	---	---	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717392	13717392	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:13717392C>A	ENST00000609686.1	-	13	2989	c.2780G>T	c.(2779-2781)cGg>cTg	p.R927L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R927Q(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATGACTCCCGTCGGATGAA	0.572													7	241	---	---	---	---	0	0
KRT73	319101	broad.mit.edu	37	12	53002038	53002038	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53002038C>A	ENST00000305748.3	-	9	1599	c.1565G>T	c.(1564-1566)aGg>aTg	p.R522M	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	522	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGGGAGTCCCTGAATTCACT	0.572													6	145	---	---	---	---	0	0
ESPL1	9700	broad.mit.edu	37	12	53666575	53666575	+	Silent	SNP	T	T	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53666575T>G	ENST00000257934.4	+	6	1531	c.1440T>G	c.(1438-1440)tcT>tcG	p.S480S	ESPL1_ENST00000552462.1_Silent_p.S480S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	480					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTGCCATCTCTGAGCCGCTCT	0.522													22	223	---	---	---	---	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876702	53876702	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53876702C>A	ENST00000267079.2	-	12	2011	c.1786G>T	c.(1786-1788)Ggg>Tgg	p.G596W	MAP3K12_ENST00000547488.1_Missense_Mutation_p.G629W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.G629W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	596					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGATGAAGCCCACGGAGGGCG	0.677													5	72	---	---	---	---	0	0
GPR84	0	broad.mit.edu	37	12	54756634	54756634	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:54756634G>T	ENST00000551809.1	-	1	1637	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P	GPR84_ENST00000267015.3_Silent_p.P334P|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	334						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GCAGCAAGAAGGGGATGTAGC	0.532													7	154	---	---	---	---	0	0
LRP1	4035	broad.mit.edu	37	12	57574174	57574174	+	Silent	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:57574174C>T	ENST00000243077.3	+	32	5764	c.5298C>T	c.(5296-5298)atC>atT	p.I1766I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1766					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATACCATCAACCGCTGCA	0.617													25	224	---	---	---	---	0	0
TMTC2	160335	broad.mit.edu	37	12	83359553	83359553	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:83359553C>A	ENST00000548305.1	+	6	2485	c.1899C>A	c.(1897-1899)ccC>ccA	p.P633P	TMTC2_ENST00000321196.3_Intron|TMTC2_ENST00000549919.1_Intron			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	0						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GTCCTTTTCCCTCCCCCTTGT	0.448													5	71	---	---	---	---	0	0
RFX4	5992	broad.mit.edu	37	12	107144510	107144510	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:107144510C>A	ENST00000392842.1	+	17	2288	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H	RFX4_ENST00000357881.4_Missense_Mutation_p.P634H|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P531H	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	625					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCGGCCCTCCCTCATGACACA	0.537													7	190	---	---	---	---	0	0
OR4K5	79317	broad.mit.edu	37	14	20389492	20389492	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr14:20389492C>A	ENST00000315915.4	+	1	752	c.727C>A	c.(727-729)Cat>Aat	p.H243N		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGGCTTCCCATATTGCAGT	0.403													8	300	---	---	---	---	0	0
TOX4	9878	broad.mit.edu	37	14	21960728	21960728	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr14:21960728C>A	ENST00000405508.1	+	8	1229	c.953C>A	c.(952-954)cCt>cAt	p.P318H	TOX4_ENST00000262709.3_Missense_Mutation_p.P318H|TOX4_ENST00000448790.2_Missense_Mutation_p.P295H			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	318						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCTCCACCTCCTATGGCTACT	0.468													7	153	---	---	---	---	0	0
MOAP1	64112	broad.mit.edu	37	14	93650448	93650448	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr14:93650448C>A	ENST00000556883.1	-	2	624	c.140G>T	c.(139-141)gGg>gTg	p.G47V	MOAP1_ENST00000298894.4_Missense_Mutation_p.G47V			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	47					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tctgtactcccccaagggagc	0.552													7	141	---	---	---	---	0	0
HERC2	8924	broad.mit.edu	37	15	28375390	28375390	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:28375390G>T	ENST00000261609.7	-	83	12829	c.12721C>A	c.(12721-12723)Cgg>Agg	p.R4241R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4241					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGACCTGCCGAGGCCTTCGA	0.562													6	223	---	---	---	---	0	0
TP53BP1	7158	broad.mit.edu	37	15	43713293	43713293	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:43713293C>A	ENST00000263801.3	-	20	4417	c.4165G>T	c.(4165-4167)Ggg>Tgg	p.G1389W	TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1394W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1394W|TP53BP1_ENST00000382039.3_Intron	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1389					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGAGCCTTCCCTCCCTGTCTG	0.567								Other conserved DNA damage response genes					6	120	---	---	---	---	0	0
TP53BP1	7158	broad.mit.edu	37	15	43739618	43739618	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:43739618G>T	ENST00000263801.3	-	13	3019	c.2767C>A	c.(2767-2769)Cca>Aca	p.P923T	TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P928T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P928T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P928T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	923					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATAAGAGGTGGGGTTGCACCA	0.363								Other conserved DNA damage response genes					6	110	---	---	---	---	0	0
MAP1A	4130	broad.mit.edu	37	15	43814445	43814445	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:43814445C>A	ENST00000382031.1	+	5	1519	c.1488C>A	c.(1486-1488)ccC>ccA	p.P496P	MAP1A_ENST00000300231.5_Silent_p.P258P|MAP1A_ENST00000399453.1_Silent_p.P258P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	258	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGCCAATCCCACTGAGAAGA	0.537													6	107	---	---	---	---	0	0
SEMA6D	80031	broad.mit.edu	37	15	48054506	48054506	+	Silent	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:48054506A>G	ENST00000316364.5	+	8	1087	c.648A>G	c.(646-648)aaA>aaG	p.K216K	SEMA6D_ENST00000389428.3_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000536845.2_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000355997.3_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	216	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATGATTCCAAATGGATAAAAG	0.507													3	79	---	---	---	---	0	0
NR2F2	7026	broad.mit.edu	37	15	96880728	96880728	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:96880728C>A	ENST00000394166.3	+	3	2511	c.1122C>A	c.(1120-1122)tcC>tcA	p.S374S	NR2F2_ENST00000421109.2_Silent_p.S241S|NR2F2_ENST00000394171.2_Silent_p.S221S|NR2F2_ENST00000453270.2_Silent_p.S221S	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	374	Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCACCGTCTCCTCCTCAGTCA	0.512													8	203	---	---	---	---	0	0
VIMP	55829	broad.mit.edu	37	15	101816764	101816764	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:101816764G>T	ENST00000398226.3	-	2	225	c.193C>A	c.(193-195)Cga>Aga	p.R65R	VIMP_ENST00000531964.1_Silent_p.R42R|VIMP_ENST00000526049.1_Silent_p.R65R|VIMP_ENST00000537379.1_Silent_p.R65R					VCP-interacting membrane protein																		GCCGCAGCTCGGTCCAGCTGC	0.502													4	50	---	---	---	---	0	0
CLEC16A	23274	broad.mit.edu	37	16	11217672	11217672	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:11217672C>A	ENST00000409790.1	+	21	2572	c.2342C>A	c.(2341-2343)cCc>cAc	p.P781H	CLEC16A_ENST00000409552.3_Missense_Mutation_p.P763H|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	781								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCGTCCAGCCCCCATTCCAAG	0.602													6	89	---	---	---	---	0	0
ABCC11	85320	broad.mit.edu	37	16	48232099	48232099	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:48232099C>A	ENST00000394747.1	-	15	2519	c.2170G>T	c.(2170-2172)Ggg>Tgg	p.G724W	ABCC11_ENST00000394748.1_Missense_Mutation_p.G724W|ABCC11_ENST00000353782.5_Missense_Mutation_p.G724W|ABCC11_ENST00000537808.1_Missense_Mutation_p.G724W|ABCC11_ENST00000356608.2_Missense_Mutation_p.G724W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	724	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GCATATTTCCCCTTTTTCTGC	0.463													7	98	---	---	---	---	0	0
NOD2	64127	broad.mit.edu	37	16	50745558	50745558	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:50745558A>G	ENST00000300589.2	+	4	1841	c.1736A>G	c.(1735-1737)gAc>gGc	p.D579G		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	579	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCCTGATGACATTTCTCTT	0.607													6	35	---	---	---	---	0	0
CDH5	1003	broad.mit.edu	37	16	66426125	66426125	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:66426125C>A	ENST00000341529.3	+	7	1204	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P	CDH5_ENST00000563425.2_Silent_p.P352P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	352	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TGAGCCCTCCCGCGGGAAACA	0.522													6	222	---	---	---	---	0	0
FAM65A	79567	broad.mit.edu	37	16	67576897	67576897	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:67576897C>A	ENST00000540839.3	+	14	2488	c.2268C>A	c.(2266-2268)ccC>ccA	p.P756P	FAM65A_ENST00000379312.3_Silent_p.P740P|FAM65A_ENST00000428437.2_Silent_p.P750P|FAM65A_ENST00000422602.2_Silent_p.P756P|FAM65A_ENST00000042381.4_Silent_p.P736P			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	740	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GTAGGAAACCCCTCACAAGCC	0.602													8	231	---	---	---	---	0	0
TIMM22	29928	broad.mit.edu	37	17	904323	904323	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr17:904323C>A	ENST00000327158.4	+	4	606	c.580C>A	c.(580-582)Cgg>Agg	p.R194R		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)						transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTATTACCTCCGGTGAGAGTA	0.532													5	163	---	---	---	---	0	0
PEX12	5193	broad.mit.edu	37	17	33904411	33904411	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr17:33904411G>T	ENST00000225873.4	-	2	933	c.326C>A	c.(325-327)cCa>cAa	p.P109Q		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	109					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCTGCTTTGGGAGACCAGC	0.438													8	257	---	---	---	---	0	0
GJC1	10052	broad.mit.edu	37	17	42882007	42882007	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr17:42882007G>T	ENST00000426548.1	-	3	1448	c.1179C>A	c.(1177-1179)tcC>tcA	p.S393S	GJC1_ENST00000590758.1_Silent_p.S393S|GJC1_ENST00000592524.1_Silent_p.S393S|GJC1_ENST00000330514.4_Silent_p.S393S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	393					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AAATCCAGACGGAGGTCTTCC	0.488													6	110	---	---	---	---	0	0
TMEM92	162461	broad.mit.edu	37	17	48356659	48356659	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr17:48356659C>A	ENST00000300433.3	+	6	580	c.470C>A	c.(469-471)cCg>cAg	p.P157Q	TMEM92_ENST00000507382.1_Missense_Mutation_p.P157Q	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	157						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						ATTGACAACCCGGCCTTCTGA	0.592													5	128	---	---	---	---	0	0
MYOM1	8736	broad.mit.edu	37	18	3135567	3135567	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr18:3135567C>A	ENST00000356443.4	-	15	2520	c.2187G>T	c.(2185-2187)gtG>gtT	p.V729V	MYOM1_ENST00000400569.3_Silent_p.V729V|MYOM1_ENST00000261606.7_Silent_p.V729V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	729	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACCACAGTCACCTCCGTTG	0.458													14	15	---	---	---	---	0	0
TPGS2	25941	broad.mit.edu	37	18	34385449	34385449	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr18:34385449C>A	ENST00000334295.4	-	4	697	c.270G>T	c.(268-270)ctG>ctT	p.L90L	TPGS2_ENST00000589049.1_Silent_p.L90L|TPGS2_ENST00000587129.1_Silent_p.L90L|TPGS2_ENST00000383056.3_Intron|TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000590842.1_Silent_p.L90L	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	90						cytoplasm|microtubule											CCATGCTTCCCAGTGGAATGA	0.453													6	113	---	---	---	---	0	0
ABCA7	10347	broad.mit.edu	37	19	1046282	1046282	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:1046282G>T	ENST00000263094.6	+	13	1730	c.1499G>T	c.(1498-1500)tGg>tTg	p.W500L	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.W362L|ABCA7_ENST00000433129.1_Missense_Mutation_p.W500L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	500					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTACGTGTGGGGCGGCTTC	0.692													8	275	---	---	---	---	0	0
STX10	8677	broad.mit.edu	37	19	13260570	13260570	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:13260570C>A	ENST00000589083.1	-	2	229	c.177G>T	c.(175-177)tgG>tgT	p.W59C	STX10_ENST00000587230.1_Missense_Mutation_p.W59C|STX10_ENST00000343587.5_Missense_Mutation_p.W59C|STX10_ENST00000242770.5_Missense_Mutation_p.W59C	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	syntaxin 10	59					Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCTCGAGGTCCCACTCGATGC	0.652											OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	58	---	---	---	---	0	0
CHERP	10523	broad.mit.edu	37	19	16631188	16631188	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:16631188G>T	ENST00000546361.2	-	14	2483	c.2332C>A	c.(2332-2334)Cgc>Agc	p.R778S	C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R789S|CHERP_ENST00000544299.1_5'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	778	Arg-rich.			R -> C (in Ref. 1; AAN77183).	cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GATCTGGAGCGGGAGTAGGAA	0.632													5	151	---	---	---	---	0	0
FKBP8	23770	broad.mit.edu	37	19	18644141	18644141	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:18644141C>A	ENST00000608443.1	-	7	1161	c.962G>T	c.(961-963)gGg>gTg	p.G321V	FKBP8_ENST00000597960.3_Missense_Mutation_p.G321V|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000222308.4_Missense_Mutation_p.G320V|FKBP8_ENST00000596558.2_Missense_Mutation_p.G320V|FKBP8_ENST00000610101.1_Missense_Mutation_p.G161V|FKBP8_ENST00000453489.2_Missense_Mutation_p.G349V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa						apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						ACTGTACTCCCCCTGCTGGGC	0.622													4	23	---	---	---	---	0	0
ZFP36	7538	broad.mit.edu	37	19	39899014	39899014	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:39899014C>A	ENST00000597629.1	+	2	748	c.674C>A	c.(673-675)cCa>cAa	p.P225Q	ZFP36_ENST00000248673.3_Missense_Mutation_p.P219Q			P26651	TTP_HUMAN	ZFP36 ring finger protein	219					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCAGCTCCCCACCACCACCT	0.697													6	150	---	---	---	---	0	0
ARHGEF1	0	broad.mit.edu	37	19	42410938	42410938	+	Nonstop_Mutation	SNP	A	A	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42410938A>T	ENST00000599846.1	+	29	3032	c.2907A>T	c.(2905-2907)tgA>tgT	p.*969C	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W|ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C|ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000354532.3_Nonstop_Mutation_p.*913C			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	0					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTGCACTTGAGGTTCCCGCC	0.657													9	21	---	---	---	---	0	0
LIG1	3978	broad.mit.edu	37	19	48646816	48646816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:48646816C>A	ENST00000263274.7	-	11	1317	c.898G>T	c.(898-900)Gag>Tag	p.E300*	LIG1_ENST00000536218.1_Nonsense_Mutation_p.E232*|LIG1_ENST00000427526.2_Nonsense_Mutation_p.E269*	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	300					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GACACCTCCTCGATCTTCTCA	0.597								Nucleotide excision repair (NER)					5	130	---	---	---	---	0	0
ZNF160	90338	broad.mit.edu	37	19	53573193	53573193	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:53573193C>A	ENST00000601421.1	-	3	1362	c.486G>T	c.(484-486)gaG>gaT	p.E162D	ZNF160_ENST00000418871.1_Missense_Mutation_p.E198D|ZNF160_ENST00000599056.1_Missense_Mutation_p.E198D|ZNF160_ENST00000429604.1_Missense_Mutation_p.E198D			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	198					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACATTTTCCCCTCACCTTGAA	0.413													6	144	---	---	---	---	0	0
PRPF31	26121	broad.mit.edu	37	19	54625942	54625942	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:54625942C>A	ENST00000321030.4	+	5	738	c.389C>A	c.(388-390)cCc>cAc	p.P130H	PRPF31_ENST00000391755.1_Missense_Mutation_p.P130H|PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Missense_Mutation_p.P130H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	130					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCTTGGTCCCCAATGCACTG	0.572													7	199	---	---	---	---	0	0
SIRPA	140885	broad.mit.edu	37	20	1902248	1902248	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:1902248T>G	ENST00000358771.4	+	3	796	c.644T>G	c.(643-645)gTg>gGg	p.V215G	SIRPA_ENST00000356025.3_Missense_Mutation_p.V215G|SIRPA_ENST00000400068.3_Missense_Mutation_p.V215G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	215	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACAGCCAAGGTGGTGCTGACC	0.572													7	103	---	---	---	---	0	0
GMEB2	26205	broad.mit.edu	37	20	62229167	62229167	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:62229167C>A	ENST00000266068.1	-	4	882	c.404G>T	c.(403-405)gGg>gTg	p.G135V	GMEB2_ENST00000370069.1_Missense_Mutation_p.G84V|GMEB2_ENST00000370077.1_Missense_Mutation_p.G135V			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	135	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGTGGACTTCCCGGCCAGGTG	0.612													5	76	---	---	---	---	0	0
SMARCB1	6598	broad.mit.edu	37	22	24129387	24129387	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr22:24129387G>T	ENST00000344921.6	+	1	238	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	SMARCB1_ENST00000407422.3_Missense_Mutation_p.G11W|SMARCB1_ENST00000263121.7_Missense_Mutation_p.G11W|SMARCB1_ENST00000407082.3_Missense_Mutation_p.G11W			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	11					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CAAGACCTTCGGGCAGAAGCC	0.716			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							5	85	---	---	---	---	0	0
DEPDC5	9681	broad.mit.edu	37	22	32275670	32275670	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr22:32275670C>A	ENST00000400246.1	+	38	4107	c.3965C>A	c.(3964-3966)tCc>tAc	p.S1322Y	DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1300Y|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1313Y|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P1208T|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1322Y|DEPDC5_ENST00000539165.1_Missense_Mutation_p.S139Y|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S1222Y			O75140	DEPD5_HUMAN	DEP domain containing 5	1291					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGGCCAGCCTCCTATGCAAGT	0.572													5	57	---	---	---	---	0	0
XIST	0	broad.mit.edu	37	X	73071294	73071294	+	RNA	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrX:73071294C>A	ENST00000429829.1	-	0	1294					NR_001564.2																						GTGGCCTTCCCGCCACTTGAA	0.537													6	145	---	---	---	---	0	0
PGK1	5230	broad.mit.edu	37	X	77369512	77369512	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrX:77369512G>T	ENST00000373316.4	+	4	439		c.e4-1		PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						CCTCTTCTCAGGGATGTTCTG	0.502													6	130	---	---	---	---	0	0
ZNF449	203523	broad.mit.edu	37	X	134494804	134494804	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrX:134494804C>A	ENST00000339249.4	+	5	1500	c.1360C>A	c.(1360-1362)Cag>Aag	p.Q454K		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	454					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TACTTTGCACCAGAGAACGCA	0.368													5	80	---	---	---	---	0	0
ABCA4	24	broad.mit.edu	37	1	94506837	94506837	+	Silent	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:94506837G>A	ENST00000370225.3	-	23	3536	c.3450C>T	c.(3448-3450)tgC>tgT	p.C1150C		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1150	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.C1150C(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGTGCCAAAGCAGTTCTTCA	0.562													19	75	---	---	---	---	0	0
SPRR2F	0	broad.mit.edu	37	1	153085079	153085079	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:153085079G>A	ENST00000468739.1	-	2	191	c.131C>T	c.(130-132)tCc>tTc	p.S44F	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	44	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				keratinization	cornified envelope|cytoplasm		p.S44F(1)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGGGCAGGACTGTGGACA	0.617													54	313	---	---	---	---	0	0
OR6K6	128371	broad.mit.edu	37	1	158725008	158725008	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:158725008C>A	ENST00000368144.2	+	1	499	c.403C>A	c.(403-405)Ctt>Att	p.L135I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTTCCACTCACTTGGTATCAC	0.493													4	85	---	---	---	---	0	0
C1orf110	339512	broad.mit.edu	37	1	162824943	162824943	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:162824943C>T	ENST00000367912.2	-	4	692	c.518G>A	c.(517-519)gGc>gAc	p.G173D	C1orf110_ENST00000367910.1_Missense_Mutation_p.G174D|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.G169D			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110									p.G174D(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						AACAGAGATGCCCTTGCTGGG	0.463													59	306	---	---	---	---	0	0
RASAL2	9462	broad.mit.edu	37	1	178269157	178269157	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:178269157A>G	ENST00000448150.3	+	3	1125	c.307A>G	c.(307-309)Aca>Gca	p.T103A	RASAL2_ENST00000367649.3_Missense_Mutation_p.T121A|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T121A(1)|p.T103A(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGAGCAGCAGACAGATTCCAC	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	66	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228509861	228509861	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:228509861C>T	ENST00000570156.2	+	66	18264	c.18190C>T	c.(18190-18192)Cct>Tct	p.P6064S	OBSCN_ENST00000366709.4_Missense_Mutation_p.P2226S|OBSCN_ENST00000422127.1_Missense_Mutation_p.P5107S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5107S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2741S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5107	Ig-like 52.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.P5689S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAAGAGACTCCTGCCCCTGT	0.597													4	37	---	---	---	---	0	0
SPAST	6683	broad.mit.edu	37	2	32368485	32368485	+	Splice_Site	SNP	G	G	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr2:32368485G>T	ENST00000315285.3	+	14	1741		c.e14+1		SPAST_ENST00000345662.1_Splice_Site	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin						cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACTTGCTAGGTGAGTAATTT	0.254													3	42	---	---	---	---	0	0
NRP2	8828	broad.mit.edu	37	2	206562286	206562286	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr2:206562286G>A	ENST00000360409.3	+	2	883	c.92G>A	c.(91-93)cGt>cAt	p.R31H	NRP2_ENST00000357118.4_Missense_Mutation_p.R31H|NRP2_ENST00000355117.4_Missense_Mutation_p.R31H|NRP2_ENST00000540178.1_Missense_Mutation_p.R31H|NRP2_ENST00000412873.2_Missense_Mutation_p.R31H|NRP2_ENST00000417189.1_Missense_Mutation_p.R31H|NRP2_ENST00000540841.1_Missense_Mutation_p.R31H|NRP2_ENST00000357785.5_Missense_Mutation_p.R31H|NRP2_ENST00000272849.3_Missense_Mutation_p.R31H	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	31	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.R31H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGCGGAGGTCGTTTGAATTCC	0.517													24	462	---	---	---	---	0	0
ABCB6	10058	broad.mit.edu	37	2	220081146	220081146	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr2:220081146A>G	ENST00000265316.3	-	4	1226	c.910T>C	c.(910-912)Tgg>Cgg	p.W304R	ABCB6_ENST00000439002.2_Missense_Mutation_p.W258R	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	304	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	p.W304R(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAACAGTCCAGGCCAGAGAG	0.547													16	46	---	---	---	---	0	0
PRSS48	345062	broad.mit.edu	37	4	152201037	152201037	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr4:152201037G>A	ENST00000455694.2	+	2	144	c.142G>A	c.(142-144)Gac>Aac	p.D48N	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	48	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.D60N(1)|p.D48N(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CCTACACTTTGACCACAACTT	0.542													22	153	---	---	---	---	0	0
GPR98	84059	broad.mit.edu	37	5	90106488	90106488	+	Silent	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr5:90106488C>T	ENST00000405460.2	+	74	15507	c.15411C>T	c.(15409-15411)ttC>ttT	p.F5137F	GPR98_ENST00000425867.2_Silent_p.F798F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5137					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F5137F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATTTCCTTCCCCGAGACAA	0.443													48	300	---	---	---	---	0	0
RELL2	285613	broad.mit.edu	37	5	141017909	141017909	+	Silent	SNP	C	C	G			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr5:141017909C>G	ENST00000297164.3	+	1	1317	c.117C>G	c.(115-117)ctC>ctG	p.L39L	RELL2_ENST00000518856.1_Intron|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Silent_p.L39L|RELL2_ENST00000521367.1_Intron	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	39						integral to membrane|plasma membrane		p.L39L(1)		large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGTGCTCAAGAAGAAGG	0.597													6	158	---	---	---	---	0	0
STK19	8859	broad.mit.edu	37	6	31940215	31940215	+	Silent	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr6:31940215C>T	ENST00000375331.2	+	2	523	c.357C>T	c.(355-357)atC>atT	p.I119I	STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Silent_p.I119I	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	119						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.I119I(1)		skin(5)|upper_aerodigestive_tract(2)	7						ATCACCTGATCCCGGAGACCT	0.597													15	119	---	---	---	---	0	0
PPT2-EGFL8	0	broad.mit.edu	37	6	32122416	32122416	+	Silent	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr6:32122416G>A	ENST00000422437.1	+	2	236	c.45G>A	c.(43-45)ctG>ctA	p.L15L	PPT2_ENST00000445576.2_Silent_p.L15L|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000361568.2_Silent_p.L21L|PPT2_ENST00000324816.6_Silent_p.L15L|PPT2_ENST00000395523.1_Silent_p.L15L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375137.2_Silent_p.L15L|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000375143.2_Silent_p.L15L														p.L21L(1)									CGTGGGTCCTGCTTCTGTTGC	0.672													32	152	---	---	---	---	0	0
INHBA	3624	broad.mit.edu	37	7	41739857	41739857	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr7:41739857G>A	ENST00000242208.4	-	2	362	c.116C>T	c.(115-117)gCg>gTg	p.A39V	INHBA_ENST00000442711.1_Missense_Mutation_p.A39V|INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000415848.2_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	39					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.A39V(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGCGGCCAGCGCACAGGACGG	0.577										TSP Lung(11;0.080)			57	374	---	---	---	---	0	0
ABCA13	154664	broad.mit.edu	37	7	48443343	48443343	+	Silent	SNP	C	C	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr7:48443343C>A	ENST00000435803.1	+	39	11961	c.11937C>A	c.(11935-11937)ggC>ggA	p.G3979G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3979	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.G3979G(2)|p.G3924G(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCTGGAGGCCTGAAGAGGA	0.527													10	42	---	---	---	---	0	0
IFNA13	3447	broad.mit.edu	37	9	21367472	21367472	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:21367472T>C	ENST00000449498.1	-	1	603	c.538A>G	c.(538-540)Aca>Gca	p.T180A		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	179					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.T180A(1)|p.T179A(1)		breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TGCAAGTTTGTTGATAAAGAG	0.408													30	155	---	---	---	---	0	0
FAM69B	138311	broad.mit.edu	37	9	139617909	139617909	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:139617909C>T	ENST00000371691.1	+	3	1817	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	FAM69B_ENST00000371692.4_Missense_Mutation_p.R327C|SNHG7_ENST00000414282.1_RNA			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	327						endoplasmic reticulum membrane|integral to membrane		p.R327C(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CACCGTGCGCCGCTTCCTGCA	0.667													5	31	---	---	---	---	0	0
FAM166A	401565	broad.mit.edu	37	9	140140297	140140297	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:140140297C>T	ENST00000344774.4	-	2	119	c.65G>A	c.(64-66)gGc>gAc	p.G22D	FAM166A_ENST00000388932.2_Missense_Mutation_p.G22D	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	22								p.G22D(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CGGAAAGAAGCCGGCATAGCT	0.632													3	43	---	---	---	---	0	0
KLC2	64837	broad.mit.edu	37	11	66026227	66026227	+	Silent	SNP	G	G	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr11:66026227G>T	ENST00000417856.1	+	2	405	c.162G>T	c.(160-162)tcG>tcT	p.S54S	KLC2_ENST00000421552.1_Silent_p.S54S|KLC2_ENST00000394067.2_Silent_p.S54S|KLC2_ENST00000394066.2_Silent_p.S54S|KLC2_ENST00000394078.1_Silent_p.S54S|KLC2_ENST00000316924.5_Silent_p.S54S	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	54					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.S54S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGCCTGGCTCGCAGGAGCGCT	0.667											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	61	---	---	---	---	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186731	50186731	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr12:50186731C>T	ENST00000335999.6	-	11	3580	c.3379G>A	c.(3379-3381)Ggg>Agg	p.G1127R		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1123	Pro-rich.							p.G1127R(1)|p.G718R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGAAGGTCCCAATGCCACTG	0.652													6	19	---	---	---	---	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68220894	68220894	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr14:68220894G>T	ENST00000347230.4	-	38	7160	c.7022C>A	c.(7021-7023)aCc>aAc	p.T2341N	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T187N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2341					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.T2341N(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAAGAACCTGGTCACTTCCAT	0.527													27	188	---	---	---	---	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68220896	68220896	+	Silent	SNP	C	C	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr14:68220896C>A	ENST00000347230.4	-	38	7158	c.7020G>T	c.(7018-7020)gtG>gtT	p.V2340V	ZFYVE26_ENST00000557306.1_Silent_p.V186V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2340					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.V2340V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAACCTGGTCACTTCCATCT	0.522													26	187	---	---	---	---	0	0
GLDN	342035	broad.mit.edu	37	15	51676022	51676022	+	Silent	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:51676022G>A	ENST00000335449.6	+	4	530	c.474G>A	c.(472-474)ttG>ttA	p.L158L	GLDN_ENST00000396399.2_Silent_p.L34L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	158	Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		p.L158L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ACAACGGATTGGATGGACAGC	0.433													9	44	---	---	---	---	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013056	75013056	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:75013056G>A	ENST00000379727.3	-	7	1511	c.1313C>T	c.(1312-1314)gCt>gTt	p.A438V	CYP1A1_ENST00000395049.4_Missense_Mutation_p.A409V|CYP1A1_ENST00000567032.1_Missense_Mutation_p.A438V|CYP1A1_ENST00000395048.2_Missense_Mutation_p.A438V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	438					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.A438V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CTTGTCGATAGCACCATCAGG	0.522									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				36	157	---	---	---	---	0	0
ZNF629	23361	broad.mit.edu	37	16	30794665	30794665	+	Silent	SNP	G	G	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr16:30794665G>T	ENST00000262525.4	-	3	1191	c.984C>A	c.(982-984)atC>atA	p.I328I		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I328I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCGAGCTCTGGATGAAGCTCT	0.637													4	76	---	---	---	---	0	0
PRRG1	5638	broad.mit.edu	37	X	37285150	37285150	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:37285150G>A	ENST00000542554.1	+	4	340	c.68G>A	c.(67-69)gGg>gAg	p.G23E	PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000449135.2_Missense_Mutation_p.G23E|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23E|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23E|PRRG1_ENST00000543642.1_Missense_Mutation_p.G23E|PRRG1_ENST00000378628.4_Missense_Mutation_p.G23E	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	23	Gla.					extracellular region|integral to plasma membrane	calcium ion binding	p.G23E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AGAGCTAATGGGTTTTTTGAA	0.338													4	32	---	---	---	---	0	0
SPAG17	200162	broad.mit.edu	37	1	118554950	118554950	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:118554950C>G	ENST00000336338.5	-	30	4398	c.4333G>C	c.(4333-4335)Gat>Cat	p.D1445H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1445						cilium|flagellar axoneme|microtubule		p.D1445H(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGAGTACCATCTTTCCTTTCA	0.393													14	50	---	---	---	---	0	0
PLXNA2	5362	broad.mit.edu	37	1	208272307	208272307	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:208272307G>A	ENST00000367033.3	-	6	2372	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	539					axon guidance	integral to membrane|intracellular|plasma membrane		p.R539C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTGTCCCTGCGGGAGCACCTG	0.562													6	21	---	---	---	---	0	0
AMER3	205147	broad.mit.edu	37	2	131520858	131520858	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr2:131520858C>T	ENST00000423981.1	+	2	1323	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	AMER3_ENST00000321420.4_Missense_Mutation_p.P405S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.P405S(1)									AGCTGAGAGCCCAGGCACTCC	0.632													18	55	---	---	---	---	0	0
CADM2	253559	broad.mit.edu	37	3	86114827	86114827	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr3:86114827T>G	ENST00000383699.3	+	9	1670	c.1043T>G	c.(1042-1044)tTt>tGt	p.F348C	CADM2_ENST00000405615.2_Missense_Mutation_p.F381C|CADM2_ENST00000407528.2_Missense_Mutation_p.F379C	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	379	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.F381C(2)|p.F348C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTAGTTGTATTTGTCACGCTG	0.423													4	48	---	---	---	---	0	0
FAM174A	345757	broad.mit.edu	37	5	99871330	99871330	+	Silent	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:99871330C>T	ENST00000312637.4	+	1	322	c.96C>T	c.(94-96)gtC>gtT	p.V32V		NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	32						integral to membrane		p.V32V(1)		breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCCTGGCAGTCCTGCTGCAGG	0.672													7	82	---	---	---	---	0	0
HTR5A	3361	broad.mit.edu	37	7	154862620	154862620	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr7:154862620C>T	ENST00000287907.2	+	1	587	c.11C>T	c.(10-12)cCt>cTt	p.P4L	HTR5A-AS1_ENST00000493904.1_Intron|HTR5A-AS1_ENST00000395731.2_Intron|HTR5A-AS1_ENST00000543018.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	4						integral to plasma membrane	serotonin receptor activity	p.P4L(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ATGGATTTACCTGTGAACCTA	0.612													27	133	---	---	---	---	0	0
GSDMD	79792	broad.mit.edu	37	8	144643541	144643541	+	Splice_Site	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr8:144643541C>T	ENST00000526406.1	+	9	1567	c.684C>T	c.(682-684)gaC>gaT	p.D228D	GSDMD_ENST00000533063.1_Splice_Site_p.D276D|GSDMD_ENST00000262580.4_Splice_Site_p.D228D	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	228								p.D228D(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGCTGCCAGACGTCCTTCTCT	0.637													3	14	---	---	---	---	0	0
PCSK5	5125	broad.mit.edu	37	9	78790082	78790082	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr9:78790082G>T	ENST00000376767.3	+	14	2449	c.1937G>T	c.(1936-1938)aGg>aTg	p.R646M	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTAAAAAGAGGCAGCTCATG	0.483													7	46	---	---	---	---	0	0
NRAP	4892	broad.mit.edu	37	10	115372082	115372082	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr10:115372082C>A	ENST00000369358.4	-	30	3677	c.3433G>T	c.(3433-3435)Gac>Tac	p.D1145Y	NRAP_ENST00000360478.3_Missense_Mutation_p.D1102Y|NRAP_ENST00000359988.3_Missense_Mutation_p.D1137Y|NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1137						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.D1137Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGTTTGTAGTCCTGATTGCTG	0.542													13	81	---	---	---	---	0	0
KNDC1	85442	broad.mit.edu	37	10	135012126	135012126	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr10:135012126G>T	ENST00000304613.3	+	14	2135	c.2114G>T	c.(2113-2115)gGc>gTc	p.G705V	KNDC1_ENST00000368572.2_Missense_Mutation_p.G705V|KNDC1_ENST00000368571.2_Missense_Mutation_p.G640V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	705					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.G705V(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGAGGGGCGGCCAGAGGGAG	0.721													3	20	---	---	---	---	0	0
ST5	6764	broad.mit.edu	37	11	8729383	8729383	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr11:8729383G>C	ENST00000534127.1	-	15	2756	c.2371C>G	c.(2371-2373)Cgg>Ggg	p.R791G	ST5_ENST00000530991.1_Missense_Mutation_p.R263G|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000313726.6_Missense_Mutation_p.R791G|ST5_ENST00000534278.1_Intron|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R791G	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	791	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding	p.R791R(1)|p.R791G(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCTGGCAACCGGGGCCCTTTC	0.577													3	20	---	---	---	---	0	0
CLK3	1198	broad.mit.edu	37	15	74917313	74917313	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr15:74917313A>G	ENST00000395066.3	+	6	1509	c.1048A>G	c.(1048-1050)Atc>Gtc	p.I350V	CLK3_ENST00000352989.5_Missense_Mutation_p.I179V|CLK3_ENST00000345005.4_Missense_Mutation_p.I202V|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	350	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I202V(2)|p.I350V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCGGCTAGAAATCAACGTGCT	0.542													7	42	---	---	---	---	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382656	79382656	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr15:79382656G>A	ENST00000419573.3	-	1	459	c.185C>T	c.(184-186)cCc>cTc	p.P62L	RASGRF1_ENST00000558480.2_Missense_Mutation_p.P62L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	62	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.P62L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGCCCCGAGGGCCGCGAGCT	0.642													16	47	---	---	---	---	0	0
KIAA0556	23247	broad.mit.edu	37	16	27585275	27585275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr16:27585275G>T	ENST00000261588.4	+	2	80	c.61G>T	c.(61-63)Gag>Tag	p.E21*		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	21								p.E21*(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGAGAAAAAGGAGGTAAATGT	0.488													11	29	---	---	---	---	0	0
ZNF689	115509	broad.mit.edu	37	16	30620889	30620889	+	Silent	SNP	A	A	C			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr16:30620889A>C	ENST00000287461.3	-	2	613	c.276T>G	c.(274-276)gcT>gcG	p.A92A	ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	92	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A92A(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GCGGATCTAGAGCAGCCGGTT	0.547													20	64	---	---	---	---	0	0
THEG	51298	broad.mit.edu	37	19	375680	375680	+	Silent	SNP	C	C	T			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr19:375680C>T	ENST00000342640.4	-	1	333	c.291G>A	c.(289-291)gaG>gaA	p.E97E	THEG_ENST00000346878.2_Silent_p.E97E	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	97					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.E97E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAATGTCCTCTTCCAAGT	0.657													36	169	---	---	---	---	0	0
USP16	0	broad.mit.edu	37	21	30411465	30411465	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr21:30411465A>G	ENST00000334352.4	+	9	1082	c.851A>G	c.(850-852)cAg>cGg	p.Q284R	USP16_ENST00000399975.3_Missense_Mutation_p.Q283R|USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Missense_Mutation_p.Q284R	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	284					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.Q284R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CTCTTTTCTCAGGTCTGTAAA	0.378													5	56	---	---	---	---	0	0
KIF1B	23095	broad.mit.edu	37	1	10363477	10363477	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:10363477A>T	ENST00000377093.4	+	21	2387	c.2234A>T	c.(2233-2235)tAt>tTt	p.Y745F	KIF1B_ENST00000377083.1_Missense_Mutation_p.Y745F|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.Y745F(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAGATTTGCTATGAGGTTGCT	0.438													6	71	---	---	---	---	0	0
FLG2	388698	broad.mit.edu	37	1	152326999	152326999	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:152326999C>T	ENST00000388718.5	-	3	3335	c.3263G>A	c.(3262-3264)gGc>gAc	p.G1088D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1088	Ser-rich.						calcium ion binding|structural molecule activity	p.G1088D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCATAGCCAGATGATTG	0.498													11	381	---	---	---	---	0	0
OR2G6	391211	broad.mit.edu	37	1	248685655	248685655	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:248685655G>C	ENST00000343414.4	+	1	740	c.708G>C	c.(706-708)aaG>aaC	p.K236N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K236N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCGCCAAAAGGCCTTTGGGA	0.458													17	65	---	---	---	---	0	0
AMBN	258	broad.mit.edu	37	4	71472192	71472192	+	Silent	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr4:71472192C>A	ENST00000322937.6	+	13	1192	c.1089C>A	c.(1087-1089)ggC>ggA	p.G363G	AMBN_ENST00000449493.2_Silent_p.G348G	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	363					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	p.G363G(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACATTCCCGGCCTGCCAAGGA	0.557													3	37	---	---	---	---	0	0
PCDHGB7	0	broad.mit.edu	37	5	140798766	140798766	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr5:140798766A>G	ENST00000398594.2	+	1	1340	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018927.3	NP_061750.1												p.D447G(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGTCAATGACAACGCGCCG	0.572													7	54	---	---	---	---	0	0
FAT2	2196	broad.mit.edu	37	5	150922324	150922324	+	Silent	SNP	T	T	C	rs35581702		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr5:150922324T>C	ENST00000261800.5	-	9	8376	c.8364A>G	c.(8362-8364)ggA>ggG	p.G2788G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2788	Cadherin 24.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTGACGTCTCCCACTTGGA	0.478													3	181	---	---	---	---	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163814	32163814	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:32163814C>T	ENST00000443903.2	-	3	541	c.541G>A	c.(541-543)Gga>Aga	p.G181R	NOTCH4_ENST00000375023.3_Silent_p.A1804A			Q99466	NOTC4_HUMAN	notch 4	1180	EGF-like 4.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.A1804A(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGCGACGTCCGCCGGCGCTA	0.701													3	11	---	---	---	---	0	0
ZNF292	23036	broad.mit.edu	37	6	87943091	87943091	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:87943091T>A	ENST00000369577.3	+	5	630	c.587T>A	c.(586-588)aTt>aAt	p.I196N	ZNF292_ENST00000339907.4_Missense_Mutation_p.I191N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I196N(1)|p.I51N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GATATGAGAATTAAACATCTA	0.313													3	69	---	---	---	---	0	0
SMU1	55234	broad.mit.edu	37	9	33056918	33056918	+	Silent	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr9:33056918C>T	ENST00000397149.3	-	8	962	c.912G>A	c.(910-912)agG>agA	p.R304R	SMU1_ENST00000536631.1_Silent_p.R143R	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	304						cytoplasm|nucleus		p.R304R(1)		endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TACTGTGTGCCCTCTCAAATC	0.353													12	174	---	---	---	---	0	0
APBB1	322	broad.mit.edu	37	11	6432291	6432291	+	Missense_Mutation	SNP	G	G	A	rs138898127	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr11:6432291G>A	ENST00000389906.2	-	2	386	c.287C>T	c.(286-288)gCg>gTg	p.A96V	APBB1_ENST00000609360.1_Missense_Mutation_p.A96V|APBB1_ENST00000311051.3_Missense_Mutation_p.A96V|APBB1_ENST00000299402.6_Missense_Mutation_p.A96V			O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	96					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.A96V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGCCTCCTCCGCCAAGGTCAA	0.632													10	308	---	---	---	---	0	0
ATP5B	506	broad.mit.edu	37	12	57032140	57032140	+	Silent	SNP	T	T	C			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:57032140T>C	ENST00000262030.3	-	10	1607	c.1557A>G	c.(1555-1557)aaA>aaG	p.K519K	ATP5B_ENST00000552919.1_Silent_p.K508K	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	519					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTATCAGCTTTTGCCACAG	0.448													3	215	---	---	---	---	0	0
CTDSP2	10106	broad.mit.edu	37	12	58223322	58223322	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:58223322A>G	ENST00000398073.2	-	2	425	c.122T>C	c.(121-123)cTt>cCt	p.L41P	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	41					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	p.L41P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					ACAGCAGAAAAGGGCCTTGAA	0.532													3	123	---	---	---	---	0	0
LGR5	8549	broad.mit.edu	37	12	71977709	71977709	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:71977709T>C	ENST00000266674.5	+	18	2230	c.1919T>C	c.(1918-1920)aTt>aCt	p.I640T	LGR5_ENST00000536515.1_Missense_Mutation_p.I568T|LGR5_ENST00000540815.2_Missense_Mutation_p.I616T			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	640						integral to plasma membrane	protein-hormone receptor activity	p.I640T(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCCATGTCATTGGTTTTTTG	0.493													21	57	---	---	---	---	0	0
APOPT1	84334	broad.mit.edu	37	14	104056568	104056568	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr14:104056568C>A	ENST00000409074.2	+	5	567	c.566C>A	c.(565-567)gCc>gAc	p.A189D	APOPT1_ENST00000247618.4_Missense_Mutation_p.A176D|APOPT1_ENST00000477116.1_3'UTR|RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000556253.2_3'UTR	NM_032374.3	NP_115750.2			apoptogenic 1, mitochondrial																		GGAAAAGTGGCCCTGGAAAGG	0.498													4	191	---	---	---	---	0	0
NFE2L1	4779	broad.mit.edu	37	17	46128887	46128887	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr17:46128887C>A	ENST00000362042.3	+	2	1023	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q|NFE2L1_ENST00000361665.3_Missense_Mutation_p.P136Q|NFE2L1_ENST00000585291.1_Missense_Mutation_p.P136Q	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	136	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.P136Q(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGACAGGCCCAGACAACGGG	0.592													4	88	---	---	---	---	0	0
ZNF562	54811	broad.mit.edu	37	19	9771402	9771402	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:9771402A>T	ENST00000448622.1	-	2	181	c.19T>A	c.(19-21)Tcc>Acc	p.S7T	ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T|ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000537617.1_5'UTR|ZNF562_ENST00000453792.2_Intron	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S7T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTACCATGGGACATATCAAAG	0.488													5	213	---	---	---	---	0	0
CCDC105	126402	broad.mit.edu	37	19	15131324	15131324	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:15131324C>A	ENST00000292574.3	+	3	809	c.727C>A	c.(727-729)Caa>Aaa	p.Q243K		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	243					microtubule cytoskeleton organization	microtubule		p.Q243K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGAGCGGCTCCAAGCCGTGGA	0.617													4	39	---	---	---	---	0	0
ZNF766	90321	broad.mit.edu	37	19	52793389	52793389	+	Silent	SNP	G	G	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:52793389G>A	ENST00000439461.1	+	4	388	c.345G>A	c.(343-345)caG>caA	p.Q115Q	ZNF766_ENST00000593612.1_Silent_p.Q130Q|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Silent_p.Q130Q|CTD-2525I3.5_ENST00000594865.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q115Q(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TAACCTTTCAGTTACCTCTGC	0.398													4	67	---	---	---	---	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072553	17072553	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr22:17072553C>A	ENST00000359963.3	-	1	1147	c.888G>T	c.(886-888)ttG>ttT	p.L296F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	296					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGACCTCCCCCAACACCACTG	0.493													5	233	---	---	---	---	0	0
KANK4	163782	broad.mit.edu	37	1	62739491	62739491	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:62739491C>T	ENST00000371153.4	-	3	1663	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	429								p.D429N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ATGCCCTTATCACACGACTCC	0.547													6	224	---	---	---	---	0	0
HFM1	164045	broad.mit.edu	37	1	91781959	91781959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:91781959C>A	ENST00000370425.3	-	26	2985	c.2887G>T	c.(2887-2889)Gaa>Taa	p.E963*	HFM1_ENST00000294696.5_Nonsense_Mutation_p.E195*|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E642*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	963	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E963*(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCAAGTTCCCTTGCATCT	0.303													7	86	---	---	---	---	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9558813	9558813	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:9558813C>T	ENST00000360635.3	-	3	910	c.14G>A	c.(13-15)gGc>gAc	p.G5D	ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	5					cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	p.G5D(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCGTTTTTTGCCCTTGCGAAA	0.393													5	231	---	---	---	---	0	0
SIX2	10736	broad.mit.edu	37	2	45233549	45233549	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:45233549C>T	ENST00000303077.6	-	2	955	c.636G>A	c.(634-636)tcG>tcA	p.S212S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	212						nucleus	sequence-specific DNA binding transcription factor activity	p.S212S(2)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTCATCCTCCGAGCTGCCTA	0.632													39	105	---	---	---	---	0	0
SPEG	10290	broad.mit.edu	37	2	220331957	220331957	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:220331957C>T	ENST00000312358.7	+	10	3075	c.2943C>T	c.(2941-2943)gcC>gcT	p.A981A	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	981	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.A981A(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACGTGGGGGCCGGGGAGATGG	0.692											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	57	104	---	---	---	---	0	0
DCBLD2	131566	broad.mit.edu	37	3	98519475	98519475	+	Silent	SNP	A	A	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:98519475A>C	ENST00000326840.6	-	15	2168	c.1806T>G	c.(1804-1806)gtT>gtG	p.V602V	DCBLD2_ENST00000326857.9_Silent_p.V616V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	602					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		p.V602V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TCAGGTGATTAACTTCGCTGC	0.507													3	153	---	---	---	---	0	0
PFN2	5217	broad.mit.edu	37	3	149686232	149686232	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:149686232C>A	ENST00000239940.7	-	2	490	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	PFN2_ENST00000481275.1_Missense_Mutation_p.V31F|PFN2_ENST00000498307.1_Missense_Mutation_p.V31F|PFN2_ENST00000490975.1_Missense_Mutation_p.V80F|PFN2_ENST00000452853.2_Missense_Mutation_p.V80F|PFN2_ENST00000489155.1_Missense_Mutation_p.V31F|PFN2_ENST00000494827.1_Missense_Mutation_p.V31F|PFN2_ENST00000461868.1_Missense_Mutation_p.V80F|PFN2_ENST00000497148.1_Missense_Mutation_p.V31F|PFN2_ENST00000475518.1_Missense_Mutation_p.V31F|PFN2_ENST00000481767.1_Missense_Mutation_p.V31F|PFN2_ENST00000423691.2_Missense_Mutation_p.V80F|PFN2_ENST00000461930.1_3'UTR			P35080	PROF2_HUMAN	profilin 2	80					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	p.V80F(2)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCACCATCGACGTATAGACTA	0.473													70	190	---	---	---	---	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54642959	54642959	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:54642959A>C	ENST00000230640.5	+	11	1481	c.1227A>C	c.(1225-1227)ttA>ttC	p.L409F	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L308F	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	409	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.L409F(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGACCAAATTAGATTTCAACA	0.269													27	68	---	---	---	---	0	0
ZNF366	0	broad.mit.edu	37	5	71739880	71739880	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:71739880C>A	ENST00000318442.5	-	5	2428	c.1938G>T	c.(1936-1938)gaG>gaT	p.E646D		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E646D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGACAGATCCTCGGGTGTGC	0.632													5	284	---	---	---	---	0	0
ZNF366	0	broad.mit.edu	37	5	71756812	71756812	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:71756812G>A	ENST00000318442.5	-	2	1002	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTAGGGCGTGGGCAGGAATGG	0.642													5	182	---	---	---	---	0	0
PCDHA13	0	broad.mit.edu	37	5	140261920	140261920	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:140261920G>T	ENST00000289272.2	+	1	67	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A23S|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.A23S(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCTCGCAGCCTGGGAGAC	0.602													5	246	---	---	---	---	0	0
RWDD2A	112611	broad.mit.edu	37	6	83905528	83905528	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:83905528A>T	ENST00000369724.4	+	3	621	c.416A>T	c.(415-417)aAg>aTg	p.K139M	RWDD2A_ENST00000539997.1_Missense_Mutation_p.K85M	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	139								p.K139M(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		CTGAACAGAAAGCTTGTATAT	0.433													42	69	---	---	---	---	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138197133	138197133	+	Splice_Site	SNP	A	A	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:138197133A>G	ENST00000237289.4	+	5	701	c.635A>G	c.(634-636)gAc>gGc	p.D212G	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	212	OTU.|TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.D212G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTTGAACAGACAAAATGCTA	0.438			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								20	78	---	---	---	---	0	0
QKI	9444	broad.mit.edu	37	6	163983069	163983069	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:163983069A>G	ENST00000361752.3	+	5	1153	c.602A>G	c.(601-603)aAt>aGt	p.N201S	QKI_ENST00000275262.7_Missense_Mutation_p.N201S|QKI_ENST00000424802.3_Missense_Mutation_p.N201S|QKI_ENST00000392127.2_Missense_Mutation_p.N201S|QKI_ENST00000453779.2_Missense_Mutation_p.N201S|QKI_ENST00000361195.2_Missense_Mutation_p.N201S	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	201					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.N201S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCGATTCTGAATGGCACCTAC	0.448													20	41	---	---	---	---	0	0
EVX1	2128	broad.mit.edu	37	7	27283058	27283058	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:27283058G>A	ENST00000496902.4	+	1	895	c.409G>A	c.(409-411)Gag>Aag	p.E137K	EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Intron|EVX1_ENST00000222761.3_Intron			P49640	EVX1_HUMAN	even-skipped homeobox 1	137						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E137K(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGGGAACGCCGAGTACCAGCA	0.657													4	41	---	---	---	---	0	0
TRGC1	0	broad.mit.edu	37	7	38305254	38305254	+	RNA	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:38305254G>A	ENST00000443402.2	-	0	25					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TGGGCTTGGGGGAAACATCTG	0.378													81	196	---	---	---	---	0	0
RP1	6101	broad.mit.edu	37	8	55533728	55533728	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr8:55533728G>A	ENST00000220676.1	+	2	350	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	68	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D68N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCTCTGCTGGATAACTTGTC	0.597													4	133	---	---	---	---	0	0
ANO3	63982	broad.mit.edu	37	11	26620449	26620449	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:26620449G>T	ENST00000256737.3	+	16	2427	c.1575G>T	c.(1573-1575)gaG>gaT	p.E525D	ANO3_ENST00000525139.1_Missense_Mutation_p.E509D|ANO3_ENST00000537978.1_Missense_Mutation_p.E509D|ANO3_ENST00000531568.1_Missense_Mutation_p.E379D	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	525						chloride channel complex	chloride channel activity	p.E525D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACAAGATGGAGATTGTAAATC	0.383													9	31	---	---	---	---	0	0
KHNYN	23351	broad.mit.edu	37	14	24901309	24901309	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:24901309G>T	ENST00000251343.5	+	3	981	c.842G>T	c.(841-843)tGg>tTg	p.W281L	KHNYN_ENST00000556842.1_Missense_Mutation_p.W281L|KHNYN_ENST00000553935.1_Missense_Mutation_p.W281L			O15037	KHNYN_HUMAN	KH and NYN domain containing	281								p.W281L(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAGAGGCGTGGGAGAGAGAA	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	34	---	---	---	---	0	0
SIX1	6495	broad.mit.edu	37	14	61115639	61115639	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:61115639G>A	ENST00000247182.6	-	1	541	c.269C>T	c.(268-270)gCg>gTg	p.A90V	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	90					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.A90V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CACGTAATGCGCCTTCAGCCA	0.627													6	189	---	---	---	---	0	0
TSHR	7253	broad.mit.edu	37	14	81422160	81422160	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:81422160C>T	ENST00000541158.2	+	2	458	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000554435.1_Missense_Mutation_p.R46C|TSHR_ENST00000554263.1_Missense_Mutation_p.R46C|TSHR_ENST00000342443.6_Missense_Mutation_p.R46C|TSHR_ENST00000298171.2_Missense_Mutation_p.R46C			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	46					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.R46C(3)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGATATTCAACGCATCCCCAG	0.607			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						31	92	---	---	---	---	0	0
FOXL1	2300	broad.mit.edu	37	16	86612373	86612373	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr16:86612373C>T	ENST00000320241.3	+	1	259	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	15					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.S15L(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTGGCCGCCTCGCCCATGCTG	0.726													18	73	---	---	---	---	0	0
GLP2R	9340	broad.mit.edu	37	17	9739734	9739734	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:9739734T>A	ENST00000262441.5	+	3	837	c.324T>A	c.(322-324)caT>caA	p.H108Q	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	108					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.H108Q(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTTGGCCTCATTCTTCTCCTG	0.428													15	140	---	---	---	---	0	0
MYH4	4622	broad.mit.edu	37	17	10356642	10356642	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:10356642T>G	ENST00000255381.2	-	24	3048	c.2938A>C	c.(2938-2940)Aaa>Caa	p.K980Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	980					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K980Q(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGAGGTTTTTCACCTTTAGA	0.438													38	90	---	---	---	---	0	0
CCDC57	284001	broad.mit.edu	37	17	80129645	80129645	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:80129645T>C	ENST00000389641.4	-	12	1850	c.1814A>G	c.(1813-1815)gAt>gGt	p.D605G	CCDC57_ENST00000392347.1_Missense_Mutation_p.D605G|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.D605G			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	605								p.D605G(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTTTAAAGGATCCAACACATC	0.468													5	92	---	---	---	---	0	0
ZNF799	90576	broad.mit.edu	37	19	12501649	12501649	+	Silent	SNP	T	T	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:12501649T>A	ENST00000419318.1	-	4	2216	c.1467A>T	c.(1465-1467)gtA>gtT	p.V489V	ZNF799_ENST00000430385.3_Silent_p.V521V|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V308V(1)|p.V521V(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCTTTCATGTACTTTTAAGT	0.388													5	76	---	---	---	---	0	0
CCDC8	83987	broad.mit.edu	37	19	46915974	46915974	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:46915974T>C	ENST00000307522.3	-	1	867	c.94A>G	c.(94-96)Acc>Gcc	p.T32A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	32						plasma membrane		p.T32A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gcttccttggtggcgggctta	0.637													3	78	---	---	---	---	0	0
TPX2	22974	broad.mit.edu	37	20	30363692	30363692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:30363692G>T	ENST00000340513.4	+	8	1159	c.631G>T	c.(631-633)Gag>Tag	p.E211*	TPX2_ENST00000300403.6_Nonsense_Mutation_p.E211*			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	211					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.E211*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAAAAGTACTGAGGAGCAAGA	0.418													24	54	---	---	---	---	0	0
ADA	100	broad.mit.edu	37	20	43257807	43257807	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:43257807C>A	ENST00000372874.4	-	3	233	c.99G>T	c.(97-99)agG>agT	p.R33S	ADA_ENST00000537820.1_Missense_Mutation_p.R33S	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	33					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	p.R33S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CGATCCCTCTCCTCCTGGAAA	0.602									Adenosine Deaminase Deficiency				14	66	---	---	---	---	0	0
SLC44A5	204962	broad.mit.edu	37	1	75708580	75708580	+	Silent	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:75708580C>T	ENST00000370855.5	-	8	575	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SLC44A5_ENST00000535611.1_Silent_p.K24K|SLC44A5_ENST00000370859.3_Silent_p.K154K	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	154						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCTTCACAGGCTTAGCAGTGG	0.368													16	170	---	---	---	---	0	0
LRRC8B	23507	broad.mit.edu	37	1	90058587	90058587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:90058587C>A	ENST00000330947.2	+	6	2757	c.2397C>A	c.(2395-2397)tgC>tgA	p.C799*	LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.C799*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.C799*|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	799						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TACAGACGTGCTTAGACAAAT	0.433													4	88	---	---	---	---	0	0
CLK2	1196	broad.mit.edu	37	1	155240637	155240637	+	Silent	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:155240637C>T	ENST00000368361.4	-	2	447	c.132G>A	c.(130-132)cgG>cgA	p.R44R	CLK2_ENST00000536801.1_Silent_p.R44R|CLK2_ENST00000355560.4_Silent_p.R44R|CLK2_ENST00000361168.5_Silent_p.R44R			P49760	CLK2_HUMAN	CDC-like kinase 2	44						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCGCCGACGCCGTCGTGTCC	0.552								Other conserved DNA damage response genes					16	215	---	---	---	---	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156937915	156937915	+	Splice_Site	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:156937915G>A	ENST00000368194.3	-	11	1866	c.827C>T	c.(826-828)tCa>tTa	p.S276L	ARHGEF11_ENST00000361409.2_Splice_Site_p.S236L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	236					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTCATCAATGACTAGAGAAA	0.517													15	46	---	---	---	---	0	0
CACNA1E	777	broad.mit.edu	37	1	181701995	181701995	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:181701995C>A	ENST00000526775.1	+	19	2881	c.2716C>A	c.(2716-2718)Cgc>Agc	p.R906S	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R925S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R906S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R876S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R532S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R857S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R925S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	925					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGGCATCGCCGCGTCAGGAC	0.652													5	187	---	---	---	---	0	0
TMEM63A	9725	broad.mit.edu	37	1	226059717	226059717	+	Silent	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:226059717G>A	ENST00000366835.3	-	5	573	c.303C>T	c.(301-303)tcC>tcT	p.S101S		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	101						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GTTGACCTGAGGAGGAAGTCG	0.438													4	22	---	---	---	---	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232607141	232607141	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:232607141G>T	ENST00000366630.1	-	7	2577	c.2219C>A	c.(2218-2220)cCa>cAa	p.P740Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P740Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	740	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.P740Q(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCGGTACATGGATTATGCAC	0.433													5	143	---	---	---	---	0	0
MYT1L	23040	broad.mit.edu	37	2	1982977	1982977	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:1982977C>A	ENST00000399161.2	-	8	859	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C	MYT1L_ENST00000428368.2_Missense_Mutation_p.G38C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	38					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGACCACTGCCGTCACAGCCA	0.512													3	27	---	---	---	---	0	0
BRE	9577	broad.mit.edu	37	2	28550226	28550226	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:28550226C>G	ENST00000344773.2	+	12	1312	c.1174C>G	c.(1174-1176)Cag>Gag	p.Q392E	BRE_ENST00000342045.2_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000361704.2_Intron	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	0					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CAAGCTGCTCCAGCCCCAGAG	0.557													29	182	---	---	---	---	0	0
LOXL3	84695	broad.mit.edu	37	2	74762839	74762839	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:74762839T>C	ENST00000264094.3	-	8	1363	c.1292A>G	c.(1291-1293)gAg>gGg	p.E431G	LOXL3_ENST00000393937.2_Missense_Mutation_p.E286G|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409986.1_Missense_Mutation_p.E286G|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	431	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TATTTGCACCTCGACTCGCCC	0.622													3	90	---	---	---	---	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10145972	10145972	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:10145972A>G	ENST00000450660.2	-	2	703	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.Y163H	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		TAAGTTGCATACAGCAAGAGG	0.483													33	77	---	---	---	---	0	0
GRIP2	80852	broad.mit.edu	37	3	14561979	14561979	+	RNA	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:14561979C>G	ENST00000273083.3	-	0	843							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGCGAGATCCCCAGGGCAGAC	0.552													8	37	---	---	---	---	0	0
NEK4	6787	broad.mit.edu	37	3	52802507	52802507	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:52802507C>A	ENST00000233027.5	-	2	409	c.207G>T	c.(205-207)aaG>aaT	p.K69N	NEK4_ENST00000383721.4_Missense_Mutation_p.K69N|NEK4_ENST00000535191.1_Intron	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	69	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CCCATGACTCCTTGTAGGTGA	0.522													7	206	---	---	---	---	0	0
TRIO	7204	broad.mit.edu	37	5	14474130	14474130	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:14474130G>T	ENST00000344204.4	+	40	6031	c.6007G>T	c.(6007-6009)Ggt>Tgt	p.G2003C	TRIO_ENST00000537187.1_Missense_Mutation_p.G2003C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2003	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAAAGAAGATGGTGTTCCTGA	0.378													4	84	---	---	---	---	0	0
TRIO	7204	broad.mit.edu	37	5	14508079	14508079	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:14508079T>C	ENST00000344204.4	+	57	8866	c.8842T>C	c.(8842-8844)Tac>Cac	p.Y2948H	TRIO_ENST00000344135.5_Missense_Mutation_p.Y447H|TRIO_ENST00000537187.1_Missense_Mutation_p.Y2772H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2948	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACGACCTACTACATCCACCA	0.517													9	65	---	---	---	---	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79732904	79732904	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:79732904G>T	ENST00000338008.5	+	3	580	c.400G>T	c.(400-402)Ggt>Tgt	p.G134C	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.G134C|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.G134C	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	134					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAGTGACATGGGTAACTTAGT	0.353													6	144	---	---	---	---	0	0
P4HA2	8974	broad.mit.edu	37	5	131544991	131544991	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:131544991C>A	ENST00000401867.1	-	8	1311	c.743G>T	c.(742-744)cGg>cTg	p.R248L	P4HA2_ENST00000360568.3_Missense_Mutation_p.R248L|P4HA2_ENST00000379086.1_Missense_Mutation_p.R248L|P4HA2_ENST00000379104.2_Missense_Mutation_p.R248L|P4HA2_ENST00000166534.4_Missense_Mutation_p.R248L|P4HA2_ENST00000379100.2_Missense_Mutation_p.R248L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	248						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTCAAAGTACCGCAGATTCCC	0.443													5	276	---	---	---	---	0	0
PCDHA12	0	broad.mit.edu	37	5	140256229	140256229	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:140256229C>T	ENST00000398631.2	+	1	1172	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTGACACCTCATGTTCCC	0.567													21	135	---	---	---	---	0	0
SGCD	6444	broad.mit.edu	37	5	155935636	155935636	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:155935636C>G	ENST00000435422.3	+	3	702	c.215C>G	c.(214-216)aCa>aGa	p.T72R	SGCD_ENST00000517913.1_Missense_Mutation_p.T73R|SGCD_ENST00000337851.4_Missense_Mutation_p.T73R|SGCD_ENST00000447401.1_Missense_Mutation_p.T73R	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	72					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGATCACAGAAAAAGGT	0.413													13	45	---	---	---	---	0	0
SPATS1	221409	broad.mit.edu	37	6	44337822	44337822	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:44337822C>A	ENST00000288390.2	+	6	1077	c.730C>A	c.(730-732)Cca>Aca	p.P244T	SPATS1_ENST00000323108.8_Missense_Mutation_p.P244T|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	244										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACATTTATTCCACTTGAGCC	0.323													8	107	---	---	---	---	0	0
FAM83B	222584	broad.mit.edu	37	6	54735047	54735047	+	Translation_Start_Site	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:54735047G>T	ENST00000306858.7	+	2	119	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	1										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCAAGCATGGAGACCTCAT	0.383													4	76	---	---	---	---	0	0
PHF3	23469	broad.mit.edu	37	6	64412495	64412495	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:64412495C>A	ENST00000262043.3	+	10	3537	c.3197C>A	c.(3196-3198)cCa>cAa	p.P1066Q	PHF3_ENST00000393387.1_Missense_Mutation_p.P1066Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1066					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTGATGCCCCAATGAAAGAA	0.383													5	102	---	---	---	---	0	0
GABRR1	2569	broad.mit.edu	37	6	89888605	89888605	+	Silent	SNP	T	T	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:89888605T>G	ENST00000435811.1	-	9	1727	c.1273A>C	c.(1273-1275)Aga>Cga	p.R425R	GABRR1_ENST00000454853.2_Silent_p.R442R|GABRR1_ENST00000369451.3_Silent_p.R355R	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	442					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TAGCTGCTTCTCTGACTTTTC	0.478													14	100	---	---	---	---	0	0
CDK13	8621	broad.mit.edu	37	7	40132728	40132728	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:40132728C>G	ENST00000181839.4	+	13	4185	c.3580C>G	c.(3580-3582)Cag>Gag	p.Q1194E	CDK13_ENST00000340829.5_Missense_Mutation_p.Q1134E	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1194					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AATAAAGGCTCAGCAGTCAAA	0.502													32	165	---	---	---	---	0	0
TYW1	55253	broad.mit.edu	37	7	66489943	66489943	+	Silent	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:66489943G>A	ENST00000359626.5	+	7	1082	c.918G>A	c.(916-918)caG>caA	p.Q306Q		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	306					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGGACCATCAGAGCCTAAATT	0.418													6	120	---	---	---	---	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620720	144620720	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr8:144620720G>T	ENST00000262577.5	-	2	848	c.817C>A	c.(817-819)Cca>Aca	p.P273T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	273					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GACGGAACTGGCTGATCTGTG	0.652													18	144	---	---	---	---	0	0
C8orf82	414919	broad.mit.edu	37	8	145753101	145753101	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr8:145753101G>T	ENST00000524821.1	-	3	491	c.276C>A	c.(274-276)ttC>ttA	p.F92L	C8orf82_ENST00000313465.5_3'UTR			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	92										endometrium(1)|urinary_tract(1)	2						AGAGGAAGGGGAAAGCGGCCT	0.687													4	21	---	---	---	---	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136405789	136405789	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr9:136405789T>A	ENST00000393061.3	+	6	1241	c.809T>A	c.(808-810)cTc>cAc	p.L270H	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L161H|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.L161H			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	161					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CAGCGGCAGCTCATGGTCCCC	0.557													18	54	---	---	---	---	0	0
HNRNPF	3185	broad.mit.edu	37	10	43883242	43883242	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr10:43883242G>T	ENST00000443950.2	-	3	577	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	HNRNPF_ENST00000356053.3_Missense_Mutation_p.L31I|HNRNPF_ENST00000544000.1_Missense_Mutation_p.L31I|HNRNPF_ENST00000337970.3_Missense_Mutation_p.L31I|HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000357065.4_Missense_Mutation_p.L31I	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	31	RRM 1.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CAGTCAGAGAGGAAGTTCTGC	0.552													5	57	---	---	---	---	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18655745	18655745	+	Splice_Site	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:18655745C>A	ENST00000336349.5	-	1	295	c.60G>T	c.(58-60)ccG>ccT	p.P20P	SPTY2D1_ENST00000543776.1_Intron	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	20										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGCTACTTACCGGCACATTGT	0.562													6	214	---	---	---	---	0	0
OR6T1	219874	broad.mit.edu	37	11	123813655	123813655	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:123813655C>A	ENST00000321252.2	-	1	925	c.891G>T	c.(889-891)gtG>gtT	p.V297V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCTTGCTGCACCTTGTCAT	0.502													26	295	---	---	---	---	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124212379	124212379	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:124212379A>C	ENST00000330342.3	+	6	819	c.571A>C	c.(571-573)Atg>Ctg	p.M191L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	191					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATTTGAAAAAATGTTGTGGAG	0.408													23	61	---	---	---	---	0	0
MMP17	4326	broad.mit.edu	37	12	132335621	132335621	+	Silent	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:132335621G>T	ENST00000360564.1	+	10	1716	c.1614G>T	c.(1612-1614)gcG>gcT	p.A538A	MMP17_ENST00000535004.1_Silent_p.A78A|MMP17_ENST00000535291.1_Silent_p.A454A	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	538					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GCGTGGACGCGGCAGAGGGGC	0.692													3	21	---	---	---	---	0	0
FRY	10129	broad.mit.edu	37	13	32676131	32676131	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr13:32676131G>T	ENST00000380250.3	+	3	798	c.302G>T	c.(301-303)gGa>gTa	p.G101V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGCAACGTGGAGAAGACCCC	0.333													5	78	---	---	---	---	0	0
SERPINA13P	0	broad.mit.edu	37	14	95109845	95109845	+	RNA	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr14:95109845C>A	ENST00000469935.1	+	0	882					NR_015340.1																						GCCACCAGCCCAAAGGAGTTC	0.577													4	61	---	---	---	---	0	0
VPS13C	54832	broad.mit.edu	37	15	62204152	62204152	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:62204152G>C	ENST00000261517.5	-	63	8675	c.8602C>G	c.(8602-8604)Ctg>Gtg	p.L2868V	VPS13C_ENST00000395896.4_Missense_Mutation_p.L2868V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L2825V|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2825V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2868					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGGGAGTCAGGGTAACTATT	0.368													12	53	---	---	---	---	0	0
SMAD6	4091	broad.mit.edu	37	15	67073658	67073658	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:67073658G>T	ENST00000288840.5	+	4	2307	c.1276G>T	c.(1276-1278)Gtc>Ttc	p.V426F	SMAD6_ENST00000338426.4_Missense_Mutation_p.V165F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	426	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CCGCGCCCTGGTCGTGCGCAA	0.731													9	42	---	---	---	---	0	0
PCSK6	5046	broad.mit.edu	37	15	101983834	101983834	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:101983834T>C	ENST00000348070.1	-	3	325	c.326A>G	c.(325-327)tAt>tGt	p.Y109C	PCSK6_ENST00000398181.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y109C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	110					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTGCTGTGATAAAAATGGTA	0.443													26	169	---	---	---	---	0	0
IRF8	3394	broad.mit.edu	37	16	85936654	85936654	+	Silent	SNP	A	A	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:85936654A>C	ENST00000268638.5	+	2	455	c.33A>C	c.(31-33)cgA>cgC	p.R11R	IRF8_ENST00000563180.1_Silent_p.R11R	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	11					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGCGGCTTCGACAGTGGCTGA	0.488													27	167	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7578404	7578404	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:7578404A>G	ENST00000420246.2	-	5	658	c.526T>C	c.(526-528)Tgc>Cgc	p.C176R	TP53_ENST00000359597.4_Missense_Mutation_p.C176R|TP53_ENST00000413465.2_Missense_Mutation_p.C176R|TP53_ENST00000445888.2_Missense_Mutation_p.C176R|TP53_ENST00000269305.4_Missense_Mutation_p.C176R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGTGGGGGCAGCGCCTCACA	0.647		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	56	---	---	---	---	0	0
TNS4	84951	broad.mit.edu	37	17	38638448	38638448	+	Silent	SNP	A	A	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:38638448A>T	ENST00000254051.6	-	8	1763	c.1605T>A	c.(1603-1605)tcT>tcA	p.S535S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	535	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACACGAAGGCAGAGAGGCTCC	0.622													4	47	---	---	---	---	0	0
ITGB4	3691	broad.mit.edu	37	17	73725380	73725380	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:73725380T>G	ENST00000200181.3	+	7	788	c.601T>G	c.(601-603)Ttc>Gtc	p.F201V	ITGB4_ENST00000579662.1_Missense_Mutation_p.F201V|ITGB4_ENST00000450894.3_Missense_Mutation_p.F201V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.F201V|ITGB4_ENST00000339591.3_Missense_Mutation_p.F201V	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	201	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGACCCCCCCTTCTCCTTCAA	0.607													11	71	---	---	---	---	0	0
PYCR1	5831	broad.mit.edu	37	17	79892256	79892256	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:79892256C>A	ENST00000337943.5	-	6	1185	c.743G>T	c.(742-744)gGg>gTg	p.G248V	PYCR1_ENST00000329875.8_Missense_Mutation_p.G248V|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000402252.2_Missense_Mutation_p.G275V|PYCR1_ENST00000403172.4_Missense_Mutation_p.G217V	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	248					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	GCGGAAGCCCCCACTCTCCAG	0.642													4	38	---	---	---	---	0	0
CEP76	79959	broad.mit.edu	37	18	12678245	12678245	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr18:12678245T>C	ENST00000262127.2	-	10	1711	c.1486A>G	c.(1486-1488)Att>Gtt	p.I496V	CEP76_ENST00000423709.2_Missense_Mutation_p.I421V|PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	496					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACAGATTTAATTGCTTCCTCA	0.433													40	122	---	---	---	---	0	0
ZNF236	7776	broad.mit.edu	37	18	74587566	74587566	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr18:74587566C>A	ENST00000253159.8	+	6	978	c.780C>A	c.(778-780)gcC>gcA	p.A260A	ZNF236_ENST00000320610.9_Silent_p.A262A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	260					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCTGTCCTGCCGCCTTCTCTC	0.532											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	137	---	---	---	---	0	0
NWD1	284434	broad.mit.edu	37	19	16902377	16902377	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:16902377T>G	ENST00000524140.2	+	14	3575	c.3157T>G	c.(3157-3159)Tca>Gca	p.S1053A	NWD1_ENST00000549814.1_Missense_Mutation_p.S1053A|NWD1_ENST00000523826.1_Missense_Mutation_p.S847A|NWD1_ENST00000339803.6_Missense_Mutation_p.S918A|NWD1_ENST00000379808.3_Missense_Mutation_p.S1053A|NWD1_ENST00000552788.1_Missense_Mutation_p.S1053A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1053							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTGCCGTCTCAGTCCAGAA	0.478													13	141	---	---	---	---	0	0
LILRA1	11024	broad.mit.edu	37	19	55106382	55106382	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:55106382C>T	ENST00000453777.1	+	4	493	c.323C>T	c.(322-324)tCa>tTa	p.S108L	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.S108L|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	108	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCAGGCTGGTCAGAGCCCAGT	0.612													28	72	---	---	---	---	0	0
ZNF551	90233	broad.mit.edu	37	19	58198616	58198616	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:58198616C>A	ENST00000282296.5	+	3	1158	c.973C>A	c.(973-975)Cac>Aac	p.H325N	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.H309N			Q7Z340	ZN551_HUMAN	zinc finger protein 551	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATTCATTCACCACCAGAGACG	0.428													4	91	---	---	---	---	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658944	50658944	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr22:50658944G>C	ENST00000439308.2	-	16	4336	c.3844C>G	c.(3844-3846)Ctc>Gtc	p.L1282V	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.L1282V|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1282					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTGGTGAGAGAGCCCCCAGC	0.652													6	27	---	---	---	---	0	0
ZNF449	203523	broad.mit.edu	37	X	134494270	134494270	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chrX:134494270C>A	ENST00000339249.4	+	5	966	c.826C>A	c.(826-828)Ccc>Acc	p.P276T		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	276					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGGAAACCCCCCCAGAGGA	0.438													4	76	---	---	---	---	0	0
ATAD3C	219293	broad.mit.edu	37	1	1389856	1389856	+	Silent	SNP	T	T	G	rs1781146		TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr1:1389856T>G	ENST00000378785.2	+	4	1349	c.354T>G	c.(352-354)ctT>ctG	p.L118L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	118							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCACGGTGCTTGAGGCGCTGC	0.667													3	13	---	---	---	---	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874026	144874026	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr1:144874026G>C	ENST00000369359.4	-	34	5377	c.5339C>G	c.(5338-5340)tCc>tGc	p.S1780C	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1600C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1644					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGATGGATGGAATCTATAAA	0.458			T	PDGFRB	MPD								6	321	---	---	---	---	0	0
SLC38A11	151258	broad.mit.edu	37	2	165765267	165765267	+	Silent	SNP	C	C	A			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:165765267C>A	ENST00000303735.4	-	9	1074	c.744G>T	c.(742-744)gtG>gtT	p.V248V	SLC38A11_ENST00000409058.1_Silent_p.V301V|SLC38A11_ENST00000409662.1_Silent_p.V270V|SLC38A11_ENST00000409149.3_Silent_p.V270V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	270					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CACCAAAAAACACATTGGCAA	0.393													3	49	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179456528	179456528	+	Silent	SNP	A	A	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:179456528A>G	ENST00000589042.1	-	303	60242	c.60018T>C	c.(60016-60018)ggT>ggC	p.G20006G	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G11133G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.G17438G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.G11066G|TTN_ENST00000460472.2_Silent_p.G10941G|TTN_ENST00000591111.1_Silent_p.G18365G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18365	Fibronectin type-III 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTGGAGAACCACCATCAC	0.458													8	35	---	---	---	---	0	0
AC010731.4	0	broad.mit.edu	37	2	207509038	207509038	+	RNA	SNP	C	C	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:207509038C>T	ENST00000543490.1	+	0	253																											TGGGAATGTGCTGTGTATCTC	0.547													7	24	---	---	---	---	0	0
ACAA1	30	broad.mit.edu	37	3	38168013	38168013	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr3:38168013A>G	ENST00000333167.8	-	8	977	c.805T>C	c.(805-807)Tct>Cct	p.S269P	ACAA1_ENST00000450296.1_Missense_Mutation_p.S228P|ACAA1_ENST00000544624.1_Missense_Mutation_p.S117P|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000301810.7_Missense_Mutation_p.S236P|ACAA1_ENST00000444607.2_3'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	269					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCTGTGGTAGAACCATCTTTC	0.587													7	62	---	---	---	---	0	0
NDST4	64579	broad.mit.edu	37	4	115858527	115858527	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr4:115858527G>C	ENST00000264363.2	-	5	2032	c.1354C>G	c.(1354-1356)Cca>Gca	p.P452A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	452	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCAGATGTGGATATTCTTCA	0.468													6	73	---	---	---	---	0	0
ZNF131	7690	broad.mit.edu	37	5	43174661	43174661	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr5:43174661A>G	ENST00000509634.1	+	7	1652	c.1196A>G	c.(1195-1197)aAt>aGt	p.N399S	ZNF131_ENST00000306938.4_Missense_Mutation_p.N399S|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Missense_Mutation_p.N399S|ZNF131_ENST00000399534.1_Missense_Mutation_p.N433S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N433S			P52739	ZN131_HUMAN	zinc finger protein 131	433						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATGCAAGGAAATGAATTAAGG	0.398													11	72	---	---	---	---	0	0
BDP1	55814	broad.mit.edu	37	5	70860624	70860624	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr5:70860624C>T	ENST00000358731.4	+	39	8050	c.7787C>T	c.(7786-7788)gCc>gTc	p.A2596V	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2596					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TATAAAAGTGCCCAAAAGCGG	0.328													6	50	---	---	---	---	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37280704	37280704	+	Silent	SNP	G	G	C			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr6:37280704G>C	ENST00000373491.3	+	9	1139	c.993G>C	c.(991-993)gtG>gtC	p.V331V		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	331	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AAGAGGATGTGGAGAACTTTG	0.438													3	43	---	---	---	---	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19316028	19316028	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:19316028C>T	ENST00000454498.2	-	5	1773	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E254K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	254					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TTGAGCTTTTCATTTTTCACT	0.448													13	229	---	---	---	---	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732517	37732517	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:37732517G>T	ENST00000330843.4	-	3	1150	c.1138C>A	c.(1138-1140)Cag>Aag	p.Q380K	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.Q380K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	380				QL -> DV (in Ref. 1; AAM09571).	protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCGGAGAGCTGCCTGTCAGAA	0.562													3	44	---	---	---	---	0	0
CYP11B2	1585	broad.mit.edu	37	8	143995679	143995679	+	Splice_Site	SNP	C	C	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:143995679C>T	ENST00000323110.2	-	5	957		c.e5+1			NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2						aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTGGCCTGACCGTGTCCACG	0.622									Familial Hyperaldosteronism type I				4	46	---	---	---	---	0	0
CCDC180	100499483	broad.mit.edu	37	9	100080777	100080777	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr9:100080777C>T	ENST00000375202.2	+	24	2476	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	CCDC180_ENST00000411667.2_Missense_Mutation_p.P372L|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000529487.1_Missense_Mutation_p.P375L|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.P514L					coiled-coil domain containing 180																		ATCCATACTCCCCCGGCTGTG	0.572													6	44	---	---	---	---	0	0
INVS	27130	broad.mit.edu	37	9	103027138	103027138	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr9:103027138G>C	ENST00000262457.2	+	11	1684	c.1499G>C	c.(1498-1500)gGa>gCa	p.G500A	INVS_ENST00000262456.2_Missense_Mutation_p.G500A|INVS_ENST00000541287.1_Missense_Mutation_p.G404A	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	500					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TGCAACAATGGATACCTTGAT	0.343													4	68	---	---	---	---	0	0
KIF5B	3799	broad.mit.edu	37	10	32304509	32304509	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr10:32304509A>G	ENST00000302418.4	-	25	3297	c.2840T>C	c.(2839-2841)gTt>gCt	p.V947A		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	947	Globular.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTGTTCTGAACAAATGCACC	0.448			T	"""RET, ALK"""	NSCLC								4	98	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108225561	108225561	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr11:108225561T>G	ENST00000278616.4	+	61	9195	c.8810T>G	c.(8809-8811)gTg>gGg	p.V2937G	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.V2937G	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2937	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACCATGGAAGTGATGAGAAAC	0.338			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			13	80	---	---	---	---	0	0
AKAP6	9472	broad.mit.edu	37	14	33292152	33292152	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr14:33292152C>G	ENST00000280979.4	+	13	5303	c.5133C>G	c.(5131-5133)atC>atG	p.I1711M	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1711					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGAACAAGATCCCGGAATCGA	0.458													9	89	---	---	---	---	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42278134	42278134	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr15:42278134G>A	ENST00000399518.3	-	18	2591	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A673V|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	690	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GACAAAGAACGCAGTGTCCAG	0.567													3	15	---	---	---	---	0	0
IMP3	55272	broad.mit.edu	37	15	75931970	75931970	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr15:75931970G>T	ENST00000314852.2	-	2	1483	c.540C>A	c.(538-540)ttC>ttA	p.F180L	IMP3_ENST00000403490.1_Missense_Mutation_p.F180L			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	180					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						CTTCCAGATCGAAGTCATCGC	0.532													8	58	---	---	---	---	0	0
GAN	8139	broad.mit.edu	37	16	81390408	81390408	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr16:81390408A>T	ENST00000568107.2	+	4	814	c.652A>T	c.(652-654)Atg>Ttg	p.M218L		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin		BACK.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GAAGGATGTTATGTCAGCTCT	0.408													12	107	---	---	---	---	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87451328	87451328	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr16:87451328C>G	ENST00000268616.4	-	8	927	c.710G>C	c.(709-711)gGt>gCt	p.G237A		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	237					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGACGGGATACCAGCCACTCC	0.682													4	17	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	21	---	---	---	---	0	0
KIF18B	146909	broad.mit.edu	37	17	43012683	43012683	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:43012683G>A	ENST00000587309.1	-	3	438	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	KIF18B_ENST00000339151.4_Missense_Mutation_p.R139C|KIF18B_ENST00000593135.1_Missense_Mutation_p.R139C|KIF18B_ENST00000590129.1_Missense_Mutation_p.R148C|KIF18B_ENST00000438933.2_Missense_Mutation_p.R139C	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCCTCCAGGCGCCTGTACAGT	0.657													3	25	---	---	---	---	0	0
HOXB5	3215	broad.mit.edu	37	17	46670614	46670614	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:46670614T>G	ENST00000239151.5	-	1	709	c.431A>C	c.(430-432)gAa>gCa	p.E144A	HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	144						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GCTTGCCGCTTCCTCAGGCTC	0.662													4	30	---	---	---	---	0	0
CPT1C	126129	broad.mit.edu	37	19	50204808	50204808	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr19:50204808G>A	ENST00000392518.4	+	7	982	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	CPT1C_ENST00000354199.5_Missense_Mutation_p.V204I|CPT1C_ENST00000598293.1_Missense_Mutation_p.V204I|CPT1C_ENST00000323446.5_Missense_Mutation_p.V204I|CPT1C_ENST00000405931.2_Missense_Mutation_p.V204I	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	204					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGGACCGCGGTCCTGGCGCA	0.677													3	41	---	---	---	---	0	0
NLRP4	147945	broad.mit.edu	37	19	56372782	56372782	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr19:56372782C>A	ENST00000301295.6	+	4	2309	c.1887C>A	c.(1885-1887)caC>caA	p.H629Q	NLRP4_ENST00000587891.1_Missense_Mutation_p.H554Q|NLRP4_ENST00000346986.5_Missense_Mutation_p.H629Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	629							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTTGGCATCACATCTGCTCTG	0.562													7	52	---	---	---	---	0	0
TTC38	55020	broad.mit.edu	37	22	46685404	46685404	+	Silent	SNP	G	G	A			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr22:46685404G>A	ENST00000381031.3	+	12	1264	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	TTC38_ENST00000445282.2_Silent_p.E338E	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	396							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GCGTCCTGGAGCTGCTCCTGC	0.711													10	60	---	---	---	---	0	0
HUWE1	10075	broad.mit.edu	37	X	53618049	53618049	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chrX:53618049T>C	ENST00000342160.3	-	33	4463	c.4006A>G	c.(4006-4008)Atg>Gtg	p.M1336V	HUWE1_ENST00000262854.6_Missense_Mutation_p.M1336V|HUWE1_ENST00000218328.8_Missense_Mutation_p.M1336V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1336	UBA.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGTGCCTCCATTGCATGTTCC	0.468													4	12	---	---	---	---	0	0
TEKT2	27285	broad.mit.edu	37	1	36553404	36553404	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:36553404G>A	ENST00000207457.3	+	9	1202	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	359					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGGCGCAAGCACAGTAGGT	0.632													4	31	---	---	---	---	0	0
NES	10763	broad.mit.edu	37	1	156647011	156647011	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:156647011T>C	ENST00000368223.3	-	1	178	c.46A>G	c.(46-48)Aat>Gat	p.N16D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	16	Coil 1A.|Rod.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCGCCGATTGAGCTCCCAC	0.672													5	28	---	---	---	---	0	0
CD1A	909	broad.mit.edu	37	1	158226847	158226847	+	Silent	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:158226847C>T	ENST00000289429.5	+	4	1409	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	292					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCGTCCTCTACTGGGGTG	0.567													5	60	---	---	---	---	0	0
ATAD2B	54454	broad.mit.edu	37	2	24011409	24011409	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:24011409T>C	ENST00000238789.5	-	20	3092	c.2749A>G	c.(2749-2751)Atg>Gtg	p.M917V	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	917							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGCCATTGATGCCTGA	0.363													12	48	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179435785	179435785	+	Missense_Mutation	SNP	A	A	C	rs3731743		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:179435785A>C	ENST00000589042.1	-	326	75298	c.75074T>G	c.(75073-75075)cTt>cGt	p.L25025R	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L16152R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L23384R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L16085R|TTN_ENST00000460472.2_Missense_Mutation_p.L15960R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L22457R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23384	Ig-like 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCACTGAAGAGTCACAGA	0.468													3	170	---	---	---	---	0	0
CADPS	8618	broad.mit.edu	37	3	62478078	62478078	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:62478078G>A	ENST00000383710.4	-	20	3120	c.2771C>T	c.(2770-2772)aCg>aTg	p.T924M	CADPS_ENST00000357948.3_Missense_Mutation_p.T894M|CADPS_ENST00000283269.9_Missense_Mutation_p.T934M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	924	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.T934M(1)|p.T924M(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGACAGGAACGTCTCCGCATG	0.448													7	510	---	---	---	---	0	0
TIFA	92610	broad.mit.edu	37	4	113199473	113199473	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr4:113199473T>C	ENST00000361717.3	-	2	381	c.100A>G	c.(100-102)Ata>Gta	p.I34V	TIFA_ENST00000500655.2_Missense_Mutation_p.I34V	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain								protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TTAAAACTTATTGACTGAAAT	0.428													46	121	---	---	---	---	0	0
TENM2	57451	broad.mit.edu	37	5	167673770	167673770	+	Silent	SNP	C	C	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr5:167673770C>A	ENST00000519204.1	+	26	5581	c.5463C>A	c.(5461-5463)gtC>gtA	p.V1821V	TENM2_ENST00000520394.1_Silent_p.V1703V|TENM2_ENST00000545108.1_Silent_p.V1941V|TENM2_ENST00000403607.2_Silent_p.V1766V|TENM2_ENST00000518659.1_Silent_p.V1942V					teneurin transmembrane protein 2																		AGTCCATGGTCCTCCTGCTTC	0.502													95	334	---	---	---	---	0	0
LPA	4018	broad.mit.edu	37	6	161020597	161020597	+	Silent	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:161020597A>G	ENST00000447678.1	-	21	3342	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T	LPA_ENST00000316300.5_Silent_p.T1074T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3582	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAGCTTGGCAAGTTCTTCCTG	0.498													5	516	---	---	---	---	0	0
MTERFD1	51001	broad.mit.edu	37	8	97269341	97269341	+	Splice_Site	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr8:97269341T>C	ENST00000523821.1	-	3	455	c.336A>G	c.(334-336)gaA>gaG	p.E112E	MTERFD1_ENST00000287025.3_Splice_Site_p.E112E|MTERFD1_ENST00000522822.1_5'UTR			Q96E29	MTER1_HUMAN	MTERF domain containing 1	112					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ATTCATCCAGTTCTTTGAAAG	0.408													4	77	---	---	---	---	0	0
IFNA4	3441	broad.mit.edu	37	9	21186979	21186979	+	Silent	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr9:21186979T>C	ENST00000421715.1	-	1	619	c.552A>G	c.(550-552)agA>agG	p.R184R		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	184					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCCTCCTTAATCTTTTTTGCA	0.388													7	197	---	---	---	---	0	0
TDRD1	56165	broad.mit.edu	37	10	115971690	115971690	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr10:115971690T>C	ENST00000251864.2	+	14	1879	c.1726T>C	c.(1726-1728)Tat>Cat	p.Y576H	TDRD1_ENST00000369280.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000369282.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	576	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACTGGTCGGATATGTAGATTA	0.393													5	81	---	---	---	---	0	0
MFSD5	84975	broad.mit.edu	37	12	53647321	53647321	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:53647321G>C	ENST00000534842.1	+	2	1170	c.1023G>C	c.(1021-1023)agG>agC	p.R341S	MFSD5_ENST00000329548.4_Missense_Mutation_p.R234S	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	234					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTTCTCAAGGACCTGTGCTG	0.602													12	74	---	---	---	---	0	0
SRGAP1	57522	broad.mit.edu	37	12	64536384	64536384	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:64536384A>G	ENST00000355086.3	+	22	3714	c.3190A>G	c.(3190-3192)Aaa>Gaa	p.K1064E	SRGAP1_ENST00000357825.3_Missense_Mutation_p.K1041E|SRGAP1_ENST00000543397.1_Missense_Mutation_p.K1001E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1064					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTTCTTCCAAAAACAAATCC	0.522													4	90	---	---	---	---	0	0
MYO1H	283446	broad.mit.edu	37	12	109834250	109834250	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:109834250C>G	ENST00000310903.5	+	4	410	c.304C>G	c.(304-306)Ctc>Gtc	p.L102V	MYO1H_ENST00000431443.2_Missense_Mutation_p.L102V			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCATTTCATCCTCATTTCTGG	0.458													4	40	---	---	---	---	0	0
SNHG14	0	broad.mit.edu	37	15	25449418	25449418	+	RNA	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr15:25449418C>T	ENST00000424208.1	+	0	2310				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CAGGCCCTTCCTGTTGCCCTA	0.622													5	30	---	---	---	---	0	0
OR3A1	4994	broad.mit.edu	37	17	3195699	3195699	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr17:3195699T>C	ENST00000323404.1	-	1	177	c.178A>G	c.(178-180)Acc>Gcc	p.T60A	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TACATGGGGGTGTGGAGTTTG	0.562													3	42	---	---	---	---	0	0
CTD-2666L21.1	0	broad.mit.edu	37	19	12318166	12318166	+	RNA	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:12318166A>G	ENST00000426044.1	+	0	127																											GCCTTTGAGGATGTGGCAGTG	0.463													14	54	---	---	---	---	0	0
KLK14	43847	broad.mit.edu	37	19	51582742	51582742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:51582742G>A	ENST00000391802.1	-	5	696	c.478C>T	c.(478-480)Cga>Tga	p.R160*	KLK14_ENST00000156499.2_Nonsense_Mutation_p.R160*	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	160	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CCTGACACTCGGCAGGAGGTC	0.662													4	42	---	---	---	---	0	0
TFIP11	24144	broad.mit.edu	37	22	26899663	26899663	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr22:26899663G>A	ENST00000407690.1	-	7	900	c.617C>T	c.(616-618)cCt>cTt	p.P206L	TFIP11_ENST00000407431.1_Missense_Mutation_p.P206L|TFIP11_ENST00000405938.1_Missense_Mutation_p.P206L|TFIP11_ENST00000496523.1_5'UTR|TFIP11_ENST00000407148.1_Missense_Mutation_p.P206L	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	206					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTCAACCACAGGGAAGTCTTG	0.493													28	61	---	---	---	---	0	0
KDELR3	0	broad.mit.edu	37	22	38877382	38877382	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr22:38877382G>A	ENST00000216014.4	+	4	689	c.517G>A	c.(517-519)Gag>Aag	p.E173K	KDELR3_ENST00000409006.3_Missense_Mutation_p.E173K|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	173					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GTACCAGACTGAGAATTTCTA	0.478													3	106	---	---	---	---	0	0
FAM120C	54954	broad.mit.edu	37	X	54185950	54185950	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:54185950A>G	ENST00000375180.2	-	2	855	c.799T>C	c.(799-801)Tac>Cac	p.Y267H	FAM120C_ENST00000328235.4_Missense_Mutation_p.Y267H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	267										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGAATATTGTAGAGAGCATAC	0.483													3	45	---	---	---	---	0	0
MED12	9968	broad.mit.edu	37	X	70349255	70349255	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:70349255G>C	ENST00000333646.6	+	26	3866	c.3667G>C	c.(3667-3669)Gtt>Ctt	p.V1223L	MED12_ENST00000374080.3_Missense_Mutation_p.V1223L|MED12_ENST00000374102.1_Missense_Mutation_p.V1223L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1223					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGTGTTTGCTGTTCTCAAGGC	0.572			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	20	---	---	---	---	0	0
MIR325	0	broad.mit.edu	37	X	76225829	76225829	+	RNA	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:76225829C>T	ENST00000385260.1	-	0	97					NR_029905.1																						ctatgtagtcccagagcctag	0.398													18	7	---	---	---	---	0	0
MAP7D3	79649	broad.mit.edu	37	X	135314292	135314292	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:135314292G>T	ENST00000316077.9	-	8	1044	c.824C>A	c.(823-825)cCc>cAc	p.P275H	MAP7D3_ENST00000370661.1_Missense_Mutation_p.P240H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.P257H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	275						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGTCGACATGGGAAACATAAC	0.463													3	109	---	---	---	---	0	0
MFSD6	54842	broad.mit.edu	37	2	191354580	191354580	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr2:191354580G>C	ENST00000392328.1	+	6	2203	c.1879G>C	c.(1879-1881)Gat>Cat	p.D627H	MFSD6_ENST00000535751.1_Missense_Mutation_p.D89H|MFSD6_ENST00000281416.7_Missense_Mutation_p.D627H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	627					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GGCAGTGCCAGATGAGGAAGA	0.478													3	55	---	---	---	---	0	0
DNAH1	25981	broad.mit.edu	37	3	52412685	52412685	+	Silent	SNP	C	C	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr3:52412685C>A	ENST00000420323.2	+	47	7527	c.7266C>A	c.(7264-7266)acC>acA	p.T2422T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2422	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTATGCAACCATCACCTCCC	0.602													74	194	---	---	---	---	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137089391	137089391	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:137089391C>A	ENST00000314940.4	-	1	648	c.365G>T	c.(364-366)gGc>gTc	p.G122V		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	122	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCCACGGTGCCAAACTGCGA	0.587													3	82	---	---	---	---	0	0
FAT2	2196	broad.mit.edu	37	5	150947501	150947501	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:150947501A>C	ENST00000261800.5	-	1	1004	c.992T>G	c.(991-993)cTc>cGc	p.L331R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	331					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGGCTGAGGTTGAACCC	0.493													5	230	---	---	---	---	0	0
ATP10B	23120	broad.mit.edu	37	5	160114977	160114977	+	Silent	SNP	T	T	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:160114977T>C	ENST00000327245.5	-	5	951	c.105A>G	c.(103-105)aaA>aaG	p.K35K	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	35					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGTCTCCCTTTCTCTGGAG	0.552													3	158	---	---	---	---	0	0
NSD1	64324	broad.mit.edu	37	5	176720972	176720972	+	Silent	SNP	T	T	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:176720972T>A	ENST00000439151.2	+	23	6648	c.6603T>A	c.(6601-6603)tcT>tcA	p.S2201S	NSD1_ENST00000347982.4_Silent_p.S1932S|NSD1_ENST00000354179.4_Silent_p.S1932S|NSD1_ENST00000361032.4_Silent_p.S2098S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2201					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCGTCTGTCTTGTACTGAGC	0.567			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			35	51	---	---	---	---	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101129	27101129	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr6:27101129G>A	ENST00000359193.2	+	1	298	c.279G>A	c.(277-279)gaG>gaA	p.E93E		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	93					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						ACGACGAGGAGCTCAACAAGC	0.617													4	204	---	---	---	---	0	0
WBSCR22	114049	broad.mit.edu	37	7	73112192	73112192	+	Silent	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:73112192C>G	ENST00000265758.2	+	12	880	c.822C>G	c.(820-822)ggC>ggG	p.G274G	WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Silent_p.G291G	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	274						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGTACACCGGCCGCAAGCGCA	0.478													10	53	---	---	---	---	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210601	100210601	+	Missense_Mutation	SNP	A	A	T	rs143182268		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:100210601A>T	ENST00000393950.2	+	1	469	c.187A>T	c.(187-189)Act>Tct	p.T63S	MOSPD3_ENST00000424091.2_Missense_Mutation_p.T63S|MOSPD3_ENST00000223054.4_Missense_Mutation_p.T63S|MOSPD3_ENST00000379527.2_Missense_Mutation_p.T63S	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	63	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCACAGGAACTGCGCTTCG	0.637													43	130	---	---	---	---	0	0
PSD	5662	broad.mit.edu	37	10	104165237	104165237	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr10:104165237A>G	ENST00000020673.5	-	12	2718	c.2192T>C	c.(2191-2193)gTc>gCc	p.V731A	PSD_ENST00000406432.1_Missense_Mutation_p.V731A	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	731					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCGCTTGATGACCTTGGGGTT	0.662													29	45	---	---	---	---	0	0
TEAD1	7003	broad.mit.edu	37	11	12946524	12946524	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:12946524G>T	ENST00000361905.4	+	11	1559	c.894G>T	c.(892-894)gaG>gaT	p.E298D	TEAD1_ENST00000334310.6_Missense_Mutation_p.E244D|TEAD1_ENST00000527636.1_Missense_Mutation_p.E313D|TEAD1_ENST00000526600.1_Missense_Mutation_p.E217D|TEAD1_ENST00000527575.1_Missense_Mutation_p.E255D|TEAD1_ENST00000361985.2_Missense_Mutation_p.E313D	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	313	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTCAGTACGAGAGTTCTGAAA	0.418													13	89	---	---	---	---	0	0
MALAT1	0	broad.mit.edu	37	11	65271006	65271006	+	RNA	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:65271006C>G	ENST00000534336.1	+	0	5774					NR_002819.2																						CTGTTAGAATCAGATGTTACT	0.303													10	80	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108218046	108218046	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:108218046T>A	ENST00000278616.4	+	59	9010	c.8625T>A	c.(8623-8625)aaT>aaA	p.N2875K	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.N2875K|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2875	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATGTACAGAATATCTTGATAA	0.303			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			21	60	---	---	---	---	0	0
GOLGA2B	0	broad.mit.edu	37	12	100551034	100551034	+	RNA	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:100551034C>G	ENST00000397112.4	-	0	1893				AC010203.1_ENST00000408843.1_RNA	NR_036632.1															large_intestine(1)|lung(3)	4						GATGTACTCTCCTGCAGGAGG	0.622													36	64	---	---	---	---	0	0
NUP37	79023	broad.mit.edu	37	12	102470594	102470594	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:102470594C>G	ENST00000552283.1	-	8	893	c.754G>C	c.(754-756)Gat>Cat	p.D252H	NUP37_ENST00000251074.1_Missense_Mutation_p.D252H			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	252					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CAGGCTCGATCCATGTGAACA	0.363													6	27	---	---	---	---	0	0
USP30	84749	broad.mit.edu	37	12	109519153	109519153	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:109519153T>G	ENST00000257548.5	+	8	828	c.735T>G	c.(733-735)ttT>ttG	p.F245L	USP30_ENST00000392784.2_Missense_Mutation_p.F214L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	245					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CTGTTCGATTTGATACCTTTG	0.353													33	75	---	---	---	---	0	0
SMAD9	4093	broad.mit.edu	37	13	37427659	37427659	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr13:37427659T>C	ENST00000379826.4	-	6	1499	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	SMAD9_ENST00000350148.5_Missense_Mutation_p.N349S|SMAD9_ENST00000399275.2_Missense_Mutation_p.N386S	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	386	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGCTGGTTGTTGAAGACCTT	0.532													7	44	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	26	---	---	---	---	0	0
WSB1	26118	broad.mit.edu	37	17	25639358	25639358	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:25639358C>T	ENST00000262394.2	+	9	1545	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	WSB1_ENST00000348811.2_Missense_Mutation_p.P264L	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	410	SOCS box.				intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTGCCGATTCCTTCCAAGCTT	0.473													5	271	---	---	---	---	0	0
PSME3	10197	broad.mit.edu	37	17	40986805	40986805	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:40986805T>G	ENST00000293362.3	+	4	316	c.155T>G	c.(154-156)aTc>aGc	p.I52S	PSME3_ENST00000590720.1_Missense_Mutation_p.I52S|PSME3_ENST00000441946.2_Missense_Mutation_p.I63S|PSME3_ENST00000545225.1_De_novo_Start_InFrame|PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Intron	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ATCTTAAACATCCATGACCTA	0.418													25	82	---	---	---	---	0	0
TMC8	147138	broad.mit.edu	37	17	76128481	76128481	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:76128481C>G	ENST00000318430.5	+	4	714	c.340C>G	c.(340-342)Cgc>Ggc	p.R114G	TMC8_ENST00000589691.1_5'UTR|TMC6_ENST00000322914.3_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	114						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CACCTTCCTCCGCTTCCTGCT	0.687													11	32	---	---	---	---	0	0
SOGA2	23255	broad.mit.edu	37	18	8824763	8824763	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr18:8824763G>A	ENST00000359865.3	+	15	3397	c.3255G>A	c.(3253-3255)gaG>gaA	p.E1085E	SOGA2_ENST00000518815.1_Silent_p.E410E|SOGA2_ENST00000306329.11_Silent_p.E1404E|SOGA2_ENST00000306285.7_Silent_p.E410E|SOGA2_ENST00000400050.3_Silent_p.E1044E|SOGA2_ENST00000517570.1_Silent_p.E1044E	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1395																	TCCTGCCTGAGAAGGGCCTGC	0.572													23	57	---	---	---	---	0	0
DSEL	92126	broad.mit.edu	37	18	65179168	65179168	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr18:65179168G>T	ENST00000310045.7	-	2	4181	c.2708C>A	c.(2707-2709)aCt>aAt	p.T903N	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	893						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTCCAACTCAGTTTCAGGAAT	0.418													15	48	---	---	---	---	0	0
FEM1A	55527	broad.mit.edu	37	19	4792557	4792557	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:4792557G>A	ENST00000269856.3	+	1	830	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	231					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CACCAACATCGTGGAGTACCT	0.687													3	88	---	---	---	---	0	0
ZNF549	256051	broad.mit.edu	37	19	58050081	58050081	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:58050081C>T	ENST00000376233.3	+	4	1890	c.1709C>T	c.(1708-1710)aCc>aTc	p.T570I	ZNF549_ENST00000240719.3_Missense_Mutation_p.T557I|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACACCGCACCAGCCTCATT	0.453													8	43	---	---	---	---	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181921	128181921	+	Silent	SNP	C	C	G			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:128181921C>G	ENST00000469083.1	-	2	2725	c.168G>C	c.(166-168)ctG>ctC	p.L56L	DNAJB8_ENST00000319153.3_Silent_p.L56L			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	56	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGGAGTCAGACAGAACCTCAT	0.612													23	218	---	---	---	---	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998648	8998648	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr8:8998648A>C	ENST00000310455.3	-	2	664	c.514T>G	c.(514-516)Tac>Gac	p.Y172D	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y172D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	172	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AAGTCTGTGTAGCTCTTCCAG	0.493													20	156	---	---	---	---	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124236942	124236942	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:124236942G>A	ENST00000330342.3	+	17	2416	c.2168G>A	c.(2167-2169)tGt>tAt	p.C723Y		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	723					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GAAATGGCGTGTGAAGAGGTA	0.343													3	87	---	---	---	---	0	0
TLN2	83660	broad.mit.edu	37	15	63008557	63008557	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr15:63008557G>A	ENST00000561311.1	+	22	2892	c.2662G>A	c.(2662-2664)Gac>Aac	p.D888N	TLN2_ENST00000306829.6_Missense_Mutation_p.D888N			Q9Y4G6	TLN2_HUMAN	talin 2	888	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAGAATGAGGACCAGCAGCA	0.483													3	77	---	---	---	---	0	0
STAC2	342667	broad.mit.edu	37	17	37369385	37369385	+	Splice_Site	SNP	C	C	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:37369385C>A	ENST00000333461.5	-	10	1363	c.994G>T	c.(994-996)Ggc>Tgc	p.G332C		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	332	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCGATCTTGCCCTGGGGATGA	0.612													5	167	---	---	---	---	0	0
SCN4A	6329	broad.mit.edu	37	17	62041134	62041134	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:62041134G>A	ENST00000435607.1	-	10	1580	c.1504C>T	c.(1504-1506)Cat>Tat	p.H502Y	SCN4A_ENST00000578147.1_Missense_Mutation_p.H502Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	502					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTTTGCCATGGGCTGGGTCC	0.637													7	22	---	---	---	---	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31961946	31961946	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr20:31961946G>A	ENST00000357886.4	-	10	1375	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R304C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R317C|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R394C			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	408					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TCCAACACACGGCTGCTTCCA	0.502													61	372	---	---	---	---	0	0
GUSBP11	0	broad.mit.edu	37	22	23981105	23981105	+	RNA	SNP	A	A	C			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:23981105A>C	ENST00000455485.1	-	0	3384				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA																							GAACAGAATGACCGACGGGGT	0.562													3	40	---	---	---	---	0	0
SUN2	25777	broad.mit.edu	37	22	39134911	39134911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:39134911C>T	ENST00000405510.1	-	16	2104	c.1746G>A	c.(1744-1746)tgG>tgA	p.W582*	SUN2_ENST00000405018.1_Nonsense_Mutation_p.W603*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.W582*|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000406622.1_Nonsense_Mutation_p.W582*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.W571*	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	582	SUN.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGGAGTGGTACCACAGGGGGA	0.637													10	56	---	---	---	---	0	0
SERHL2	253190	broad.mit.edu	37	22	42967138	42967138	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:42967138C>A	ENST00000327678.5	+	10	762	c.660C>A	c.(658-660)agC>agA	p.S220R	SERHL2_ENST00000407614.4_Missense_Mutation_p.S40R|SERHL2_ENST00000340239.4_Missense_Mutation_p.A182E|SERHL2_ENST00000335879.5_Missense_Mutation_p.S156R|RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	220						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CAGAGAACAGCATTGACTTCA	0.537													3	102	---	---	---	---	0	0
MTF1	4520	broad.mit.edu	37	1	38288086	38288086	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:38288086G>A	ENST00000373036.4	-	9	1614	c.1474C>T	c.(1474-1476)Ccg>Tcg	p.P492S		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	492	Pro-rich.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATGGGCTGCGGTGCCTGGGGG	0.572													3	33	---	---	---	---	0	0
RGL1	23179	broad.mit.edu	37	1	183711406	183711406	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:183711406A>C	ENST00000304685.4	+	2	563	c.114A>C	c.(112-114)gaA>gaC	p.E38D	RGL1_ENST00000536277.1_Missense_Mutation_p.E38D	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1						cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GAATATGGGAAGTTTTAAAGA	0.428													4	159	---	---	---	---	0	0
C2orf76	130355	broad.mit.edu	37	2	120078761	120078761	+	Silent	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:120078761G>A	ENST00000409466.2	-	4	674	c.153C>T	c.(151-153)aaC>aaT	p.N51N	C2orf76_ENST00000409877.1_Silent_p.N51N|C2orf76_ENST00000409523.1_Silent_p.N51N|C2orf76_ENST00000334816.7_Silent_p.N51N			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	51										large_intestine(1)|lung(3)|pancreas(1)	5						GTGGTGGCAGGTTGGTCCTTA	0.264													12	62	---	---	---	---	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173832057	173832057	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:173832057G>T	ENST00000264111.6	+	10	1073	c.886G>T	c.(886-888)Gcc>Tcc	p.A296S	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.A77S|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.A297S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.A153S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.A126S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.A297S			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	297					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GCACGAGGATGCCCCTTTGCC	0.522													10	26	---	---	---	---	0	0
SP3	6670	broad.mit.edu	37	2	174777809	174777809	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:174777809C>G	ENST00000310015.6	-	6	2548	c.2018G>C	c.(2017-2019)aGa>aCa	p.R673T	SP3_ENST00000455789.2_Missense_Mutation_p.R620T|SP3_ENST00000418194.2_Missense_Mutation_p.R605T	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	673					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGTATGTGTTCTTCTGTGCCT	0.368													4	74	---	---	---	---	0	0
DAW1	164781	broad.mit.edu	37	2	228786221	228786221	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:228786221A>C	ENST00000309931.2	+	12	1240	c.1157A>C	c.(1156-1158)cAc>cCc	p.H386P	DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.H371P	NM_178821.1	NP_849143.1			dynein assembly factor with WDR repeat domains 1																		CTTGAGGGGCACACTGATGAA	0.443													7	102	---	---	---	---	0	0
SCAP	22937	broad.mit.edu	37	3	47455847	47455847	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:47455847A>C	ENST00000265565.5	-	22	3829	c.3417T>G	c.(3415-3417)gaT>gaG	p.D1139E	SCAP_ENST00000545718.1_Missense_Mutation_p.D746E|SCAP_ENST00000441517.2_Missense_Mutation_p.D883E	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1139	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGATGGCCCCATCTTGTCCTC	0.597													6	92	---	---	---	---	0	0
IBTK	25998	broad.mit.edu	37	6	82924057	82924057	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:82924057C>A	ENST00000306270.7	-	12	2640	c.2091G>T	c.(2089-2091)agG>agT	p.R697S	IBTK_ENST00000510291.1_Missense_Mutation_p.R697S|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	697					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGCTCTTCTGCCTCTCACTAA	0.328													12	73	---	---	---	---	0	0
LAMA2	3908	broad.mit.edu	37	6	129691092	129691092	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:129691092A>T	ENST00000421865.2	+	34	4965	c.4916A>T	c.(4915-4917)aAt>aTt	p.N1639I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1639	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCAGAGGGCAATCTGAATACA	0.448													3	107	---	---	---	---	0	0
SAMD3	154075	broad.mit.edu	37	6	130467207	130467207	+	Silent	SNP	A	A	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:130467207A>G	ENST00000368134.2	-	12	1751	c.1143T>C	c.(1141-1143)aaT>aaC	p.N381N	SAMD3_ENST00000437477.2_Silent_p.N381N|SAMD3_ENST00000457563.2_Silent_p.N405N|SAMD3_ENST00000439090.2_Silent_p.N381N	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	381										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GCAATACAATATTGATTGGAT	0.303													19	60	---	---	---	---	0	0
RAMP3	10268	broad.mit.edu	37	7	45222942	45222942	+	Silent	SNP	C	C	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:45222942C>T	ENST00000242249.4	+	3	416	c.378C>T	c.(376-378)ccC>ccT	p.P126P	RAMP3_ENST00000481345.1_Silent_p.P126P|RAMP3_ENST00000496212.1_Silent_p.P126P	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	126					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCGTTATACCCGTCGTTCTGA	0.617													69	298	---	---	---	---	0	0
COPS6	10980	broad.mit.edu	37	7	99686916	99686916	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:99686916T>G	ENST00000303904.3	+	2	117	c.80T>G	c.(79-81)gTc>gGc	p.V27G	COPS6_ENST00000418625.1_Splice_Site_p.V26G	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	27					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCTTAGTAGTCCCCAGCGTG	0.622													5	236	---	---	---	---	0	0
COPS6	10980	broad.mit.edu	37	7	99688238	99688238	+	Silent	SNP	C	C	T	rs11550651		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:99688238C>T	ENST00000303904.3	+	5	484	c.447C>T	c.(445-447)ccC>ccT	p.P149P	COPS6_ENST00000418625.1_Silent_p.P148P	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	149					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCGAGAGCCCCCTCTTTCTGA	0.498													4	127	---	---	---	---	0	0
AHCYL2	23382	broad.mit.edu	37	7	129053510	129053510	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:129053510C>A	ENST00000325006.3	+	12	1496	c.1442C>A	c.(1441-1443)tCc>tAc	p.S481Y	AHCYL2_ENST00000474594.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S400Y|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S480Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S379Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	481					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						ATGGGACATTCCAACACAGAG	0.433													19	109	---	---	---	---	0	0
SNTG1	54212	broad.mit.edu	37	8	51363119	51363119	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:51363119A>T	ENST00000522124.1	+	7	942	c.281A>T	c.(280-282)gAa>gTa	p.E94V	SNTG1_ENST00000517473.1_Missense_Mutation_p.E94V|SNTG1_ENST00000518864.1_Missense_Mutation_p.E94V|SNTG1_ENST00000276467.5_Missense_Mutation_p.E94V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	94	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTCACAGCGGAACTTTCAGGA	0.289													4	127	---	---	---	---	0	0
CPQ	10404	broad.mit.edu	37	8	97847312	97847312	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:97847312G>A	ENST00000220763.5	+	3	755	c.545G>A	c.(544-546)aGg>aAg	p.R182K		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	182					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										AACTACTCAAGGACGGTGCAA	0.517													3	98	---	---	---	---	0	0
DENND3	22898	broad.mit.edu	37	8	142186811	142186811	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:142186811T>C	ENST00000519811.1	+	15	2727	c.2657T>C	c.(2656-2658)cTg>cCg	p.L886P	DENND3_ENST00000262585.2_Missense_Mutation_p.L806P|DENND3_ENST00000424248.1_Missense_Mutation_p.L754P			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	806										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTTGGCACCTGATGGTGAAG	0.542													3	127	---	---	---	---	0	0
BAI1	575	broad.mit.edu	37	8	143558610	143558610	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:143558610G>A	ENST00000517894.1	+	5	2087	c.1193G>A	c.(1192-1194)cGg>cAg	p.R398Q	BAI1_ENST00000323289.5_Missense_Mutation_p.R398Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	398	TSP type-1 2.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGCGAGCAGCGGCTGTGCAAC	0.731													3	65	---	---	---	---	0	0
EXT2	2132	broad.mit.edu	37	11	44228397	44228397	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:44228397A>T	ENST00000395673.3	+	10	1705	c.1649A>T	c.(1648-1650)aAc>aTc	p.N550I	EXT2_ENST00000533608.1_Missense_Mutation_p.N517I|EXT2_ENST00000358681.4_Missense_Mutation_p.N527I|EXT2_ENST00000343631.3_Missense_Mutation_p.N517I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	517					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.N517S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						ACTGCTGAAAACAAGTTAAGT	0.403			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				4	129	---	---	---	---	0	0
C11orf84	144097	broad.mit.edu	37	11	63581248	63581248	+	Silent	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:63581248G>A	ENST00000294244.4	+	1	389	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	30										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AGGCCATGGTGGTGGCCGTAA	0.687													3	49	---	---	---	---	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498834	118498834	+	Missense_Mutation	SNP	G	G	T	rs141245340		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:118498834G>T	ENST00000361417.2	+	7	1706	c.1295G>T	c.(1294-1296)gGg>gTg	p.G432V	PHLDB1_ENST00000356063.5_Missense_Mutation_p.G432V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	432										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTTTCAGATGGGTTAGCCACC	0.642													5	171	---	---	---	---	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284995	52284995	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:52284995G>A	ENST00000301190.6	+	5	1492	c.1265G>A	c.(1264-1266)gGa>gAa	p.G422E	ANKRD33_ENST00000538991.1_Silent_p.R161R|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Silent_p.R230R	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGTCCTTCAGGACACCAAAGT	0.597													3	64	---	---	---	---	0	0
RAB35	11021	broad.mit.edu	37	12	120536625	120536625	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:120536625T>C	ENST00000229340.5	-	5	655	c.467A>G	c.(466-468)aAc>aGc	p.N156S	RAB35_ENST00000534951.1_Intron|RAB35_ENST00000432953.2_Intron|RAB35_ENST00000543364.1_5'UTR	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	156					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CTCTTCCACGTTGACATTCTC	0.597													3	59	---	---	---	---	0	0
FREM2	341640	broad.mit.edu	37	13	39263499	39263499	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr13:39263499G>C	ENST00000280481.7	+	1	2234	c.2018G>C	c.(2017-2019)aGa>aCa	p.R673T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	673					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCACATTTAGAGTCCAGGAT	0.562													5	143	---	---	---	---	0	0
FURIN	5045	broad.mit.edu	37	15	91422745	91422745	+	Silent	SNP	C	C	T			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr15:91422745C>T	ENST00000268171.3	+	10	1404	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	375					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCTTAGCAGCCGGCATCATTG	0.617													17	120	---	---	---	---	0	0
CCL4L2	388372	broad.mit.edu	37	17	34641448	34641448	+	Splice_Site	SNP	A	A	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:34641448A>G	ENST00000394465.2	+	3	508		c.e3-1		TBC1D3C_ENST00000308078.7_Intron|CCL4L2_ENST00000482104.1_3'UTR|TBC1D3H_ENST00000400684.4_Intron|CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3C_ENST00000451448.2_Intron|TBC1D3H_ENST00000535446.1_Intron			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2						chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity	p.?(1)		endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGTTCTACAGATTCCAAAC	0.522													3	137	---	---	---	---	0	0
CDC6	990	broad.mit.edu	37	17	38447897	38447897	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:38447897A>G	ENST00000209728.4	+	4	1108	c.637A>G	c.(637-639)Agc>Ggc	p.S213G		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	213					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGCCTGCTTAAGCCGGATTCT	0.408													9	102	---	---	---	---	0	0
CPAMD8	27151	broad.mit.edu	37	19	17068665	17068665	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr19:17068665G>C	ENST00000443236.1	-	19	2446	c.2415C>G	c.(2413-2415)atC>atG	p.I805M	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	758						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TAATGTACCTGATGTTGAGAC	0.438													5	345	---	---	---	---	0	0
ATP9A	10079	broad.mit.edu	37	20	50234090	50234090	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr20:50234090T>C	ENST00000338821.5	-	22	2618	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G	ATP9A_ENST00000311637.5_Missense_Mutation_p.D649G|ATP9A_ENST00000402822.1_Missense_Mutation_p.D664G	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	785					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATTGCCTCCGTCCCCTGCGAG	0.517													3	27	---	---	---	---	0	0
EIF3I	8668	broad.mit.edu	37	1	32690027	32690027	+	Silent	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:32690027C>T	ENST00000373586.1	+	4	273	c.201C>T	c.(199-201)gtC>gtT	p.V67V	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	67						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CCAAGCATGTCCTCACTGGCT	0.483													6	80	---	---	---	---	0	0
FAM179A	165186	broad.mit.edu	37	2	29237325	29237325	+	Silent	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:29237325T>C	ENST00000379558.4	+	8	1293	c.942T>C	c.(940-942)ccT>ccC	p.P314P	FAM179A_ENST00000403861.2_Silent_p.P314P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	314							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGCCCTGCCTTTTTCTCAGT	0.582													2	11	---	---	---	---	0	0
CCDC141	285025	broad.mit.edu	37	2	179702244	179702244	+	Silent	SNP	C	C	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:179702244C>A	ENST00000420890.2	-	23	3819	c.3702G>T	c.(3700-3702)gtG>gtT	p.V1234V	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.V659V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	659							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAGGCTCTTCCACCTCCATGT	0.572													3	47	---	---	---	---	0	0
STAT4	6775	broad.mit.edu	37	2	191940981	191940981	+	Missense_Mutation	SNP	A	A	G			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:191940981A>G	ENST00000392320.2	-	4	658	c.344T>C	c.(343-345)aTa>aCa	p.I115T	STAT4_ENST00000358470.4_Missense_Mutation_p.I115T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	115			I -> V (in dbSNP:rs3024839).		JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGCAGCCAATATTCTCCTCTC	0.343													10	62	---	---	---	---	0	0
RNF216	54476	broad.mit.edu	37	7	5780784	5780784	+	Silent	SNP	A	A	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:5780784A>C	ENST00000425013.2	-	4	917	c.693T>G	c.(691-693)tcT>tcG	p.S231S	RNF216_ENST00000389902.3_Silent_p.S288S	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	231					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GCTGAGGAGAAGAGGGGCCTG	0.542													18	77	---	---	---	---	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062353	144062353	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:144062353G>A	ENST00000056217.5	+	2	2765	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	864					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAGCAGGAGCACTCGGGGA	0.602													4	123	---	---	---	---	0	0
CSMD1	64478	broad.mit.edu	37	8	2820915	2820915	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr8:2820915C>T	ENST00000602557.1	-	61	9841	c.9286G>A	c.(9286-9288)Gtg>Atg	p.V3096M	CSMD1_ENST00000602723.1_Missense_Mutation_p.V2919M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2919M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2918M|CSMD1_ENST00000520002.1_Missense_Mutation_p.V3096M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3095M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3096	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGACACAGCACGGCTATTTCC	0.498													79	44	---	---	---	---	0	0
PAPPA	5069	broad.mit.edu	37	9	119065088	119065088	+	Silent	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr9:119065088T>C	ENST00000328252.3	+	10	3375	c.3006T>C	c.(3004-3006)ttT>ttC	p.F1002F	PAPPA_ENST00000534838.1_Silent_p.F40F|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1002					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGAGGAGTTTGAACAAAAAA	0.438													3	67	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92568223	92568223	+	Silent	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr11:92568223C>T	ENST00000298047.6	+	14	10076	c.10059C>T	c.(10057-10059)gaC>gaT	p.D3353D	FAT3_ENST00000409404.2_Silent_p.D3353D|FAT3_ENST00000525166.1_Silent_p.D3203D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3353	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCAGTGAAGACGCCTTGGTGG	0.488										TCGA Ovarian(4;0.039)			4	19	---	---	---	---	0	0
TCTN2	79867	broad.mit.edu	37	12	124171429	124171429	+	Missense_Mutation	SNP	C	C	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr12:124171429C>A	ENST00000303372.5	+	6	739	c.611C>A	c.(610-612)aCc>aAc	p.T204N	TCTN2_ENST00000426174.2_Missense_Mutation_p.T203N	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	204					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCCTGCTTCACCGGCGTGTTT	0.527													54	78	---	---	---	---	0	0
ADAM21P1	0	broad.mit.edu	37	14	70713623	70713623	+	RNA	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:70713623T>C	ENST00000530196.1	-	0	895					NR_003951.1																						CAAAATTATGTAAGTACCTAA	0.343													25	25	---	---	---	---	0	0
PAPLN	89932	broad.mit.edu	37	14	73719446	73719446	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:73719446C>T	ENST00000427855.1	+	11	1159	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	PAPLN_ENST00000381166.3_Missense_Mutation_p.R353C|PAPLN_ENST00000555445.1_Missense_Mutation_p.R353C|PAPLN_ENST00000340738.5_Missense_Mutation_p.R326C|PAPLN_ENST00000554301.1_Missense_Mutation_p.R353C			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	353	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGCTGACCGGCGTTCCTGCAA	0.632													50	99	---	---	---	---	0	0
KCNK10	54207	broad.mit.edu	37	14	88658679	88658679	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:88658679C>T	ENST00000340700.5	-	5	1193	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	KCNK10_ENST00000319231.5_Missense_Mutation_p.V253M|KCNK10_ENST00000312350.5_Missense_Mutation_p.V253M	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	248					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGGATCGTCACAAACACAATG	0.498													40	96	---	---	---	---	0	0
ZZEF1	23140	broad.mit.edu	37	17	3917452	3917452	+	Missense_Mutation	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:3917452T>C	ENST00000381638.2	-	51	8469	c.8345A>G	c.(8344-8346)gAc>gGc	p.D2782G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2782							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTTGCTCATGTCGGAGGTGAA	0.572													6	56	---	---	---	---	0	0
DNAH9	1770	broad.mit.edu	37	17	11833352	11833352	+	Missense_Mutation	SNP	A	A	G			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:11833352A>G	ENST00000262442.4	+	63	12115	c.12047A>G	c.(12046-12048)aAt>aGt	p.N4016S	DNAH9_ENST00000608377.1_Missense_Mutation_p.N328S|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Intron	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGATCACCAATGAGCCCCCC	0.602													3	48	---	---	---	---	0	0
TRIM16	10626	broad.mit.edu	37	17	15532066	15532066	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:15532066G>A	ENST00000578237.1	-	11	2413	c.1558C>T	c.(1558-1560)Cac>Tac	p.H520Y	TRIM16_ENST00000416464.2_Missense_Mutation_p.H390Y|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000336708.7_Missense_Mutation_p.H520Y|TRIM16_ENST00000577886.1_Missense_Mutation_p.H304Y					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GCAAACTTGTGAACCAGAGTC	0.507													24	37	---	---	---	---	0	0
APLP1	333	broad.mit.edu	37	19	36362608	36362608	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr19:36362608C>T	ENST00000221891.4	+	5	824	c.632C>T	c.(631-633)cCc>cTc	p.P211L	APLP1_ENST00000586861.1_Missense_Mutation_p.P205L|APLP1_ENST00000537454.2_Missense_Mutation_p.P172L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	211	Zinc-binding.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGTGCTGTCCCCCTCCAGGG	0.637													14	62	---	---	---	---	0	0
DSCAM	1826	broad.mit.edu	37	21	41719856	41719856	+	Silent	SNP	G	G	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr21:41719856G>T	ENST00000400454.1	-	6	1428	c.951C>A	c.(949-951)acC>acA	p.T317T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	317	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGGACTGATGGTGGCTTTCA	0.473													3	9	---	---	---	---	0	0
TSPEAR	54084	broad.mit.edu	37	21	45953635	45953635	+	Missense_Mutation	SNP	T	T	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr21:45953635T>A	ENST00000323084.4	-	3	540	c.475A>T	c.(475-477)Aca>Tca	p.T159S	TSPEAR_ENST00000397916.1_Missense_Mutation_p.T91S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	159	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGACCAGTGTGTGCCAGCGG	0.692													15	31	---	---	---	---	0	0
SGSM3	27352	broad.mit.edu	37	22	40802485	40802485	+	Missense_Mutation	SNP	A	A	G			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr22:40802485A>G	ENST00000248929.9	+	10	1193	c.1004A>G	c.(1003-1005)aAc>aGc	p.N335S	SGSM3_ENST00000454798.2_Missense_Mutation_p.N268S	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	335					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCCATCTTCAACACGCTATCG	0.627													5	36	---	---	---	---	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40457949	40457949	+	Missense_Mutation	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chrX:40457949T>C	ENST00000378438.4	+	6	709	c.551T>C	c.(550-552)cTt>cCt	p.L184P	ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L108P|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L106P|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L152P	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	184					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTGCTCTTTCTTTCTGAACTG	0.363													33	24	---	---	---	---	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884845	12884845	+	Silent	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:12884845G>A	ENST00000535591.1	-	4	1461	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	422										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGACCTGTCGCCATGGTCAG	0.473													11	367	---	---	---	---	0	0
VCAM1	7412	broad.mit.edu	37	1	101188742	101188742	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:101188742C>G	ENST00000294728.2	+	3	608	c.507C>G	c.(505-507)gaC>gaG	p.D169E	VCAM1_ENST00000347652.2_Missense_Mutation_p.D169E|VCAM1_ENST00000370119.4_Missense_Mutation_p.D107E|VCAM1_ENST00000370115.1_Missense_Mutation_p.D169E	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	169	Ig-like C2-type 2.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGGATGCAGACAGGAAGTCCC	0.418													13	43	---	---	---	---	0	0
GDAP2	54834	broad.mit.edu	37	1	118455305	118455305	+	Splice_Site	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:118455305C>A	ENST00000369443.5	-	4	566	c.317G>T	c.(316-318)gGg>gTg	p.G106V	GDAP2_ENST00000369442.3_Splice_Site_p.G106V	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2		Macro.		G -> S (in dbSNP:rs12753610).							kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TGTTCGGCACCCTGAAAACAA	0.388													4	76	---	---	---	---	0	0
TNN	63923	broad.mit.edu	37	1	175054615	175054615	+	Silent	SNP	C	C	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:175054615C>T	ENST00000239462.4	+	6	1422	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	437	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCGATCCTCCTGAATGGCAG	0.517													6	12	---	---	---	---	0	0
GTF3C2	2976	broad.mit.edu	37	2	27564920	27564920	+	Silent	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr2:27564920G>T	ENST00000359541.2	-	4	1179	c.750C>A	c.(748-750)ctC>ctA	p.L250L	GTF3C2_ENST00000264720.3_Silent_p.L250L|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	250						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCAACCTGGAGAAAAAAGT	0.562													5	95	---	---	---	---	0	0
WDR54	84058	broad.mit.edu	37	2	74652599	74652599	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr2:74652599C>A	ENST00000348227.4	+	9	942	c.854C>A	c.(853-855)cCa>cAa	p.P285Q	WDR54_ENST00000409791.1_Missense_Mutation_p.P233Q|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	285										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGCAGAAACCCAGAGAGTGGC	0.602													5	156	---	---	---	---	0	0
SUMO1	7341	broad.mit.edu	37	2	203071992	203071992	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr2:203071992C>A	ENST00000392246.2	-	5	446	c.290G>T	c.(289-291)gGt>gTt	p.G97V	SUMO1_ENST00000409498.2_Missense_Mutation_p.G58V|SUMO1_ENST00000409205.1_Missense_Mutation_p.G58V|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000392244.3_Missense_Mutation_p.G72V|SUMO1_ENST00000392245.1_Missense_Mutation_p.G97V|SUMO1_ENST00000409712.1_Missense_Mutation_p.G73V|SUMO1_ENST00000409368.1_Missense_Mutation_p.G142V|SUMO1_ENST00000409181.1_3'UTR	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	97	Ubiquitin-like.				DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding										TGTTGAATGACCCCCCGTTTG	0.303													6	286	---	---	---	---	0	0
SP110	3431	broad.mit.edu	37	2	231033887	231033887	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr2:231033887G>A	ENST00000258381.6	-	19	2172	c.2095C>T	c.(2095-2097)Ctc>Ttc	p.L699F	AC009950.2_ENST00000609120.1_RNA|SP110_ENST00000358662.4_Missense_Mutation_p.L675F	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	675					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGAAAACCGAGCACGTCTTTG	0.458													74	151	---	---	---	---	0	0
CLASP2	23122	broad.mit.edu	37	3	33552113	33552113	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr3:33552113T>C	ENST00000399362.4	-	37	4628	c.4275A>G	c.(4273-4275)atA>atG	p.I1425M	CLASP2_ENST00000480013.1_Missense_Mutation_p.I1205M|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1417M|CLASP2_ENST00000461133.3_Missense_Mutation_p.I1185M|CLASP2_ENST00000468888.2_Missense_Mutation_p.I1426M|CLASP2_ENST00000307312.7_Missense_Mutation_p.I907M|CLASP2_ENST00000539981.1_3'UTR	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1427										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACACTCTCTCTATCACTTTTG	0.413													9	61	---	---	---	---	0	0
MYRIP	25924	broad.mit.edu	37	3	40211572	40211572	+	Silent	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr3:40211572C>A	ENST00000302541.6	+	8	1203	c.861C>A	c.(859-861)ccC>ccA	p.P287P	MYRIP_ENST00000425621.1_Silent_p.P287P|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Silent_p.P198P|MYRIP_ENST00000444716.1_Silent_p.P287P|MYRIP_ENST00000539167.1_Silent_p.P100P	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	287	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACCGTGCTCCCGCTGCCCTCT	0.597													4	88	---	---	---	---	0	0
SLC2A9	56606	broad.mit.edu	37	4	9982359	9982359	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:9982359C>T	ENST00000506583.1	-	7	668	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	SLC2A9_ENST00000309065.3_Missense_Mutation_p.V151I|SLC2A9_ENST00000264784.3_Missense_Mutation_p.V180I			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	180					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CTGAGGGCGACGCCTGTAGAG	0.557													4	43	---	---	---	---	0	0
MAML3	55534	broad.mit.edu	37	4	140641036	140641036	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:140641036A>T	ENST00000509479.2	-	5	3714	c.2858T>A	c.(2857-2859)aTg>aAg	p.M953K	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	949	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GACTGTTCCCATAAGGCTCTG	0.577													55	79	---	---	---	---	0	0
DCHS2	54798	broad.mit.edu	37	4	155157178	155157178	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:155157178A>G	ENST00000357232.4	-	25	7260	c.7261T>C	c.(7261-7263)Ttt>Ctt	p.F2421L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGGCTCAAATTCATCTATC	0.433													3	53	---	---	---	---	0	0
FSTL5	56884	broad.mit.edu	37	4	162680679	162680679	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:162680679A>G	ENST00000306100.5	-	6	1047	c.611T>C	c.(610-612)aTa>aCa	p.I204T	FSTL5_ENST00000536695.1_Missense_Mutation_p.I203T|FSTL5_ENST00000379164.4_Missense_Mutation_p.I203T|FSTL5_ENST00000427802.2_Missense_Mutation_p.I203T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	204	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCCTGTTTTATCACCTAACA	0.274													11	53	---	---	---	---	0	0
CLCN3	0	broad.mit.edu	37	4	170625197	170625197	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:170625197G>C	ENST00000513761.1	+	10	2171	c.1612G>C	c.(1612-1614)Gga>Cga	p.G538R	CLCN3_ENST00000360642.3_Missense_Mutation_p.G511R|CLCN3_ENST00000504131.2_Missense_Mutation_p.G521R|CLCN3_ENST00000347613.4_Missense_Mutation_p.G538R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	538					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AGCGATCGCAGGAAGGATTGT	0.507													13	70	---	---	---	---	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940276	82940276	+	Silent	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr5:82940276C>A	ENST00000274341.4	-	4	1531	c.681G>T	c.(679-681)ggG>ggT	p.G227G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	227	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TGTTCTGCCCCCCACAGGGCT	0.517													19	87	---	---	---	---	0	0
CLINT1	9685	broad.mit.edu	37	5	157218974	157218974	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr5:157218974C>A	ENST00000523094.1	-	10	1268	c.1063G>T	c.(1063-1065)Ggt>Tgt	p.G355C	CLINT1_ENST00000523908.1_Missense_Mutation_p.G373C|CLINT1_ENST00000411809.2_Missense_Mutation_p.G373C|CLINT1_ENST00000530742.1_Missense_Mutation_p.G355C|CLINT1_ENST00000296951.5_Missense_Mutation_p.G355C	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	373					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCAGTCACCAAAGTCTCCA	0.468													4	71	---	---	---	---	0	0
LINC00336	0	broad.mit.edu	37	6	33561062	33561062	+	RNA	SNP	C	C	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:33561062C>T	ENST00000477984.1	-	0	53					NR_027908.1																						CCACGACTGCCAGGCCACCCC	0.687													7	15	---	---	---	---	0	0
TMEM217	221468	broad.mit.edu	37	6	37186257	37186257	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:37186257T>C	ENST00000336655.2	-	2	589	c.550A>G	c.(550-552)Att>Gtt	p.I184V	TMEM217_ENST00000356757.2_Missense_Mutation_p.I184V|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	184						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ccACTCGAAATTGATAATCTT	0.478													4	113	---	---	---	---	0	0
PKHD1	5314	broad.mit.edu	37	6	51613252	51613252	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:51613252C>A	ENST00000371117.3	-	58	9437	c.9162G>T	c.(9160-9162)gaG>gaT	p.E3054D	PKHD1_ENST00000340994.4_Missense_Mutation_p.E3054D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3054					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGCCTGACCCTCTAAATCTA	0.498													4	95	---	---	---	---	0	0
PREP	5550	broad.mit.edu	37	6	105821366	105821366	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:105821366A>C	ENST00000369110.3	-	5	665	c.473T>G	c.(472-474)gTt>gGt	p.V158G		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	158					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGCACCATCAACTTTCATGAA	0.473													10	83	---	---	---	---	0	0
EGFR	1956	broad.mit.edu	37	7	55240710	55240710	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr7:55240710G>T	ENST00000275493.2	+	17	2131	c.1954G>T	c.(1954-1956)Ggg>Tgg	p.G652W	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G599W|EGFR_ENST00000455089.1_Missense_Mutation_p.G607W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	652					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGGGATGGTGGGGGCCCTCCT	0.622		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	106	---	---	---	---	0	0
ANK1	286	broad.mit.edu	37	8	41557063	41557063	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr8:41557063T>G	ENST00000396942.1	-	23	2548	c.2465A>C	c.(2464-2466)gAa>gCa	p.E822A	ANK1_ENST00000379758.2_Missense_Mutation_p.E822A|ANK1_ENST00000289734.7_Missense_Mutation_p.E822A|ANK1_ENST00000352337.4_Missense_Mutation_p.E822A|ANK1_ENST00000347528.4_Missense_Mutation_p.E822A|ANK1_ENST00000396945.1_Missense_Mutation_p.E822A|ANK1_ENST00000265709.8_Missense_Mutation_p.E863A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	822	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GATGAGTTCTTCCCCTGAAAC	0.522													50	155	---	---	---	---	0	0
ZNF462	58499	broad.mit.edu	37	9	109736551	109736551	+	Silent	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr9:109736551C>A	ENST00000277225.5	+	9	7118	c.6829C>A	c.(6829-6831)Cga>Aga	p.R2277R	ZNF462_ENST00000457913.1_Silent_p.R2337R|ZNF462_ENST00000441147.2_Silent_p.R1183R|ZNF462_ENST00000542028.1_Silent_p.R234R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2277				Missing (in Ref. 4; AK027866).	transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CGTGCTGCACCGAGGTAACCT	0.547													7	376	---	---	---	---	0	0
ENKUR	219670	broad.mit.edu	37	10	25304914	25304914	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:25304914C>A	ENST00000331161.4	-	0	171				ENKUR_ENST00000376363.1_De_novo_Start_OutOfFrame	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein							cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTTTTTCTCCCTGTCCCAGTA	0.473													4	39	---	---	---	---	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650664	43650664	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:43650664T>A	ENST00000374466.3	+	2	402	c.67T>A	c.(67-69)Tgc>Agc	p.C23S	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.C23S	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	23					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGCTTTGCTCTGCAGTTTGGT	0.438													5	84	---	---	---	---	0	0
WAPAL	23063	broad.mit.edu	37	10	88277723	88277723	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:88277723C>A	ENST00000298767.5	-	2	576	c.104G>T	c.(103-105)tGg>tTg	p.W35L		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	35	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GGTCTCTCCCCATTTTGTGCT	0.403													4	77	---	---	---	---	0	0
CPXM2	119587	broad.mit.edu	37	10	125528213	125528213	+	Silent	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:125528213C>A	ENST00000241305.3	-	9	1282	c.1128G>T	c.(1126-1128)gcG>gcT	p.A376A	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	376					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGTGGGCCCCCGCGATGTAGT	0.582													4	143	---	---	---	---	0	0
FAM53B	9679	broad.mit.edu	37	10	126370648	126370648	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:126370648C>A	ENST00000337318.3	-	4	645	c.434G>T	c.(433-435)cGc>cTc	p.R145L	FAM53B_ENST00000392754.3_Missense_Mutation_p.R145L|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.R145L	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	145										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCTGTAGCAGCGTCTCTTTTC	0.617													3	43	---	---	---	---	0	0
NLRP14	338323	broad.mit.edu	37	11	7064143	7064143	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr11:7064143G>T	ENST00000299481.4	+	4	1232	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	296	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCTGAGGAAAGTGATGCTCCC	0.448													13	53	---	---	---	---	0	0
CD3G	917	broad.mit.edu	37	11	118223127	118223127	+	Silent	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr11:118223127G>A	ENST00000532917.1	+	6	560	c.492G>A	c.(490-492)aaG>aaA	p.K164K	CD3G_ENST00000392883.2_Silent_p.K60K|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	164	ITAM.				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGCCCCTCAAGGATCGAGAAG	0.393													74	118	---	---	---	---	0	0
SLC38A4	55089	broad.mit.edu	37	12	47163194	47163194	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr12:47163194G>C	ENST00000447411.1	-	14	1523	c.1317C>G	c.(1315-1317)atC>atG	p.I439M	SLC38A4_ENST00000266579.4_Missense_Mutation_p.I439M	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	439					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ATAACAGTGTGATCACTGATG	0.363													12	60	---	---	---	---	0	0
CFL2	1073	broad.mit.edu	37	14	35182678	35182678	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:35182678C>A	ENST00000341223.3	-	2	244	c.93G>T	c.(91-93)aaG>aaT	p.K31N	CFL2_ENST00000555765.1_Missense_Mutation_p.K14N|CFL2_ENST00000298159.6_Missense_Mutation_p.K31N|CFL2_ENST00000556161.1_Missense_Mutation_p.K14N	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	31	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CTTTCTTTCTCTTTTTGATCT	0.353													4	57	---	---	---	---	0	0
RTL1	388015	broad.mit.edu	37	14	101349274	101349274	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:101349274G>A	ENST00000534062.1	-	1	1910	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	618										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GCACCCACAGGTTCCCAAGGC	0.542													6	40	---	---	---	---	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16843703	16843703	+	Missense_Mutation	SNP	C	C	A	rs150101848	byFrequency	TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr17:16843703C>A	ENST00000437538.2	-	3	438	c.430G>T	c.(430-432)Ggg>Tgg	p.G144W	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.G190W|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.G144W			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	190					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CAGGGATCCCCCCTCTTCTTG	0.647									IgA Deficiency, Selective				4	97	---	---	---	---	0	0
TUBG1	7283	broad.mit.edu	37	17	40766928	40766928	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr17:40766928C>A	ENST00000251413.3	+	11	1287	c.1225C>A	c.(1225-1227)Cgc>Agc	p.R409S		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	409					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GGAGCAGTTCCGCAAGGAGGA	0.537													5	157	---	---	---	---	0	0
CSHL1	1444	broad.mit.edu	37	17	61988132	61988132	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr17:61988132G>T	ENST00000392824.4	-	2	224	c.163C>A	c.(163-165)Cag>Aag	p.Q55K	CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Missense_Mutation_p.Q55K|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	55						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATAAACTCCTGGTAGGTGTCA	0.557													6	267	---	---	---	---	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471819	61471819	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr18:61471819A>T	ENST00000398019.2	+	8	1418	c.1093A>T	c.(1093-1095)Atc>Ttc	p.I365F	SERPINB7_ENST00000540675.1_Missense_Mutation_p.I348F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.I365F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.I365F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	365					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCTATTTGTTATCAGGAAGGA	0.453													4	90	---	---	---	---	0	0
MAP1S	55201	broad.mit.edu	37	19	17831813	17831813	+	Silent	SNP	C	C	A	rs7255978		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:17831813C>A	ENST00000324096.4	+	2	338	c.187C>A	c.(187-189)Cga>Aga	p.R63R	MAP1S_ENST00000544059.2_Silent_p.R37R|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	63	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CTTTGTGTCCCGACACTCTGC	0.577													4	151	---	---	---	---	0	0
GPATCH1	55094	broad.mit.edu	37	19	33602720	33602720	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:33602720C>G	ENST00000170564.2	+	12	1990	c.1676C>G	c.(1675-1677)gCa>gGa	p.A559G		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	559						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTGCTGTACGCATCTTCCCAT	0.607													3	119	---	---	---	---	0	0
GZF1	64412	broad.mit.edu	37	20	23345560	23345560	+	Silent	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr20:23345560C>A	ENST00000338121.5	+	2	617	c.540C>A	c.(538-540)tcC>tcA	p.S180S	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Silent_p.S180S			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	180					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TCACGGATTCCTTGGACTACC	0.552													4	74	---	---	---	---	0	0
ALG12	79087	broad.mit.edu	37	22	50297538	50297538	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr22:50297538A>G	ENST00000330817.6	-	10	1688	c.1415T>C	c.(1414-1416)gTc>gCc	p.V472A	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCAGGTGGACGTTGAAGGG	0.657													3	114	---	---	---	---	0	0
CTPS2	56474	broad.mit.edu	37	X	16720991	16720991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chrX:16720991G>T	ENST00000443824.1	-	2	778	c.35C>A	c.(34-36)tCa>tAa	p.S12*	CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12*|CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12*	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	12					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ACCAATGCCTGAGATGACCCC	0.438													5	72	---	---	---	---	0	0
ZNF630	57232	broad.mit.edu	37	X	47919356	47919356	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chrX:47919356C>A	ENST00000276054.4	-	5	1037	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	ZNF630_ENST00000409324.3_Missense_Mutation_p.G159W|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.G145W			Q2M218	ZN630_HUMAN	zinc finger protein 630	159	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AACATTTTCCCAAATGCACTG	0.388													3	29	---	---	---	---	0	0
DACH2	117154	broad.mit.edu	37	X	86068206	86068206	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chrX:86068206G>A	ENST00000373131.1	+	8	1587	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	DACH2_ENST00000373125.4_Missense_Mutation_p.R488Q|DACH2_ENST00000508860.1_Missense_Mutation_p.R321Q|DACH2_ENST00000510272.1_Missense_Mutation_p.R269Q	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	488	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AAGGAGCTGCGACTGGAGCTC	0.413													9	4	---	---	---	---	0	0
HSPG2	3339	broad.mit.edu	37	1	22159980	22159980	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:22159980A>G	ENST00000374695.3	-	79	11037	c.10958T>C	c.(10957-10959)tTt>tCt	p.F3653S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3653	Ig-like C2-type 22.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGGTGGGCAAAGGCTTTGAC	0.617													6	72	---	---	---	---	0	0
RPA2	6118	broad.mit.edu	37	1	28240635	28240635	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:28240635C>T	ENST00000373912.3	-	2	355	c.56G>A	c.(55-57)gGc>gAc	p.G19D	RPA2_ENST00000313433.7_Missense_Mutation_p.G107D|RPA2_ENST00000373909.3_Missense_Mutation_p.G27D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	19	Gly/Ser-rich.				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGTGTAGCCGCCGGCTCC	0.537								Direct reversal of damage;Nucleotide excision repair (NER)					5	63	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152281161	152281161	+	Silent	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:152281161G>T	ENST00000368799.1	-	3	6236	c.6201C>A	c.(6199-6201)ccC>ccA	p.P2067P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2067	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTGATGGGGCCCAGCTT	0.562									Ichthyosis				8	868	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	185987441	185987441	+	Silent	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:185987441T>C	ENST00000271588.4	+	34	5656	c.5427T>C	c.(5425-5427)aaT>aaC	p.N1809N	HMCN1_ENST00000367492.2_Silent_p.N1809N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1809	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGCAGCAAATACTGCTGGAG	0.393													32	92	---	---	---	---	0	0
CENPF	1063	broad.mit.edu	37	1	214819712	214819712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:214819712G>T	ENST00000366955.3	+	13	6967	c.6799G>T	c.(6799-6801)Gag>Tag	p.E2267*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2363	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCAGTTAAAGGAGCTAAATGA	0.423													5	118	---	---	---	---	0	0
NCOA1	8648	broad.mit.edu	37	2	24952626	24952626	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:24952626C>A	ENST00000405141.1	+	18	3854	c.3143C>A	c.(3142-3144)cCg>cAg	p.P1048Q	NCOA1_ENST00000395856.3_Missense_Mutation_p.P1048Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.P1048Q|NCOA1_ENST00000406961.1_Missense_Mutation_p.P1048Q|NCOA1_ENST00000348332.3_Missense_Mutation_p.P1048Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.P1048Q|NCOA1_ENST00000407230.1_Missense_Mutation_p.P897Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1048									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAGACCTCCGGCTGCACCT	0.488			T	PAX3	alveolar rhadomyosarcoma								4	150	---	---	---	---	0	0
SP140	11262	broad.mit.edu	37	2	231155227	231155227	+	Silent	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:231155227A>G	ENST00000392045.3	+	19	1887	c.1773A>G	c.(1771-1773)ccA>ccG	p.P591P	SP140_ENST00000420434.3_Silent_p.P564P|SP140_ENST00000417495.3_Silent_p.P477P|SP140_ENST00000350136.5_Silent_p.P460P|SP140_ENST00000486687.2_Silent_p.P515P|SP140_ENST00000343805.6_Silent_p.P531P	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	591	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTTTGCTTCCAGTGACCTGTG	0.418													4	105	---	---	---	---	0	0
ACKR3	57007	broad.mit.edu	37	2	237489567	237489567	+	Silent	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:237489567C>A	ENST00000272928.3	+	2	769	c.459C>A	c.(457-459)ccC>ccA	p.P153P		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CCAACACCCCCAGCAGCAGGA	0.562													5	190	---	---	---	---	0	0
NUP210	23225	broad.mit.edu	37	3	13370362	13370362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:13370362C>A	ENST00000254508.5	-	31	4277	c.4195G>T	c.(4195-4197)Gga>Tga	p.G1399*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1399					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACGGTCATTCCCAAAGGCACG	0.537													5	83	---	---	---	---	0	0
GRIP2	80852	broad.mit.edu	37	3	14536380	14536380	+	RNA	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:14536380C>T	ENST00000273083.3	-	0	3005							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGCTGGAGGCCTCCACGGTGG	0.612													12	43	---	---	---	---	0	0
FGD5	152273	broad.mit.edu	37	3	14863047	14863047	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:14863047G>A	ENST00000285046.5	+	1	2579	c.2469G>A	c.(2467-2469)atG>atA	p.M823I	FGD5_ENST00000543601.1_Missense_Mutation_p.M582I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	823					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACGTGGACATGAGCAGCTTCA	0.532													8	65	---	---	---	---	0	0
C3orf38	285237	broad.mit.edu	37	3	88205229	88205229	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:88205229T>C	ENST00000318887.3	+	3	744	c.434T>C	c.(433-435)tTc>tCc	p.F145S	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	145					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GGAGAAGAATTCTGTCATTGG	0.368													17	24	---	---	---	---	0	0
PARP9	83666	broad.mit.edu	37	3	122259686	122259686	+	Silent	SNP	G	G	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:122259686G>C	ENST00000462315.1	-	8	1691	c.1398C>G	c.(1396-1398)acC>acG	p.T466T	PARP9_ENST00000477522.2_Silent_p.T466T|PARP9_ENST00000471785.1_Silent_p.T466T|PARP9_ENST00000360356.2_Silent_p.T501T|PARP9_ENST00000492382.1_Silent_p.T46T	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	501	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCTCCTCTCTGGTTGACTGGG	0.448													17	161	---	---	---	---	0	0
CHSY3	337876	broad.mit.edu	37	5	129241302	129241302	+	Silent	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:129241302C>A	ENST00000305031.4	+	1	1138	c.780C>A	c.(778-780)gcC>gcA	p.A260A	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	260						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCATGCGCGCCGACGACGATG	0.567													4	218	---	---	---	---	0	0
RBM22	55696	broad.mit.edu	37	5	150073641	150073641	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:150073641C>T	ENST00000199814.4	-	8	1029	c.908G>A	c.(907-909)gGa>gAa	p.G303E	RBM22_ENST00000447771.2_Missense_Mutation_p.G254E|RBM22_ENST00000540000.1_Missense_Mutation_p.G254E	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	303	RRM.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCACCTTCCCCATTTCAC	0.388													11	71	---	---	---	---	0	0
TCP11	6954	broad.mit.edu	37	6	35088704	35088704	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:35088704G>A	ENST00000311875.5	-	6	1153	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	TCP11_ENST00000373979.2_Missense_Mutation_p.L171F|TCP11_ENST00000244645.3_Missense_Mutation_p.L171F|TCP11_ENST00000418521.2_Missense_Mutation_p.L170F|TCP11_ENST00000373974.4_Missense_Mutation_p.L200F|TCP11_ENST00000444780.2_Missense_Mutation_p.L241F|TCP11_ENST00000412155.2_Missense_Mutation_p.L195F|TCP11_ENST00000512012.1_Missense_Mutation_p.L233F			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	233					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTATTGAGGAGTTCCTGGAAT	0.448													12	582	---	---	---	---	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270248	36270248	+	Splice_Site	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:36270248T>C	ENST00000394571.2	+	6	1384		c.e6+2		PNPLA1_ENST00000312917.5_Splice_Site|PNPLA1_ENST00000388715.3_Splice_Site	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1						lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGCCCCAAGGTATGGACCCTT	0.567											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	137	---	---	---	---	0	0
IMPG1	3617	broad.mit.edu	37	6	76660411	76660411	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:76660411C>A	ENST00000369950.3	-	13	1881	c.1692G>T	c.(1690-1692)atG>atT	p.M564I	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	564					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGGCAATGGTCATAGAACTAG	0.493													5	92	---	---	---	---	0	0
SHH	6469	broad.mit.edu	37	7	155599019	155599019	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr7:155599019T>C	ENST00000297261.2	-	2	683	c.533A>G	c.(532-534)aAg>aGg	p.K178R		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	178			Missing (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATATGTGCCTTGGACTCGTA	0.632													17	101	---	---	---	---	0	0
PLEC	5339	broad.mit.edu	37	8	145003714	145003714	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:145003714C>A	ENST00000322810.4	-	24	3529	c.3360G>T	c.(3358-3360)caG>caT	p.Q1120H	PLEC_ENST00000398774.2_Missense_Mutation_p.Q951H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q961H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1010H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q983H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q983H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q987H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1006H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q969H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1120	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGATGCAGCGCTGGCAGCGAG	0.682													9	55	---	---	---	---	0	0
TRPM3	80036	broad.mit.edu	37	9	73152085	73152085	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:73152085C>T	ENST00000377110.3	-	25	4151	c.3908G>A	c.(3907-3909)aGc>aAc	p.S1303N	TRPM3_ENST00000357533.2_Missense_Mutation_p.S1307N|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1165N|TRPM3_ENST00000377111.2_Missense_Mutation_p.S1303N|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1330N|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1165N|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1175N|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1162N|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1175N|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1152N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCCTTCCTGGCTGTTGAAGCT	0.572													14	167	---	---	---	---	0	0
TGFBR1	7046	broad.mit.edu	37	9	101904860	101904860	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:101904860A>G	ENST00000374994.4	+	5	965	c.848A>G	c.(847-849)cAt>cGt	p.H283R	TGFBR1_ENST00000374990.2_Missense_Mutation_p.H206R|TGFBR1_ENST00000552516.1_Missense_Mutation_p.H287R|TGFBR1_ENST00000550253.1_Missense_Mutation_p.H214R	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	283	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCAGATTATCATGAGCATGGA	0.413													16	122	---	---	---	---	0	0
INPP5E	56623	broad.mit.edu	37	9	139333278	139333278	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:139333278G>T	ENST00000371712.3	-	1	996	c.594C>A	c.(592-594)agC>agA	p.S198R		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	198	13 X 4 AA repeats of P-X-X-P.					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CGATGTCCAGGCTCAGGGCAG	0.711													3	27	---	---	---	---	0	0
LARP4B	23185	broad.mit.edu	37	10	888969	888969	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:888969C>A	ENST00000316157.3	-	6	589	c.549G>T	c.(547-549)atG>atT	p.M183I		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	183	HTH La-type RNA-binding.						nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGTCACTATCCATCTGTGATA	0.403													9	30	---	---	---	---	0	0
HECTD2	143279	broad.mit.edu	37	10	93253266	93253266	+	Splice_Site	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:93253266G>A	ENST00000446394.1	+	15	1633		c.e15+1		HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GGTTGGAATTGTATCCTTTAA	0.308													15	30	---	---	---	---	0	0
KCNQ1	3784	broad.mit.edu	37	11	2549250	2549250	+	Splice_Site	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:2549250T>C	ENST00000155840.5	+	2	585		c.e2+2		KCNQ1_ENST00000335475.5_Splice_Site	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1						blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTCTGGATGGTACGTAGCATC	0.617													30	77	---	---	---	---	0	0
SESN3	143686	broad.mit.edu	37	11	94910979	94910979	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:94910979T>C	ENST00000536441.1	-	8	1487	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	SESN3_ENST00000278499.2_Missense_Mutation_p.N245S|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	384					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ATATGTGAGATTGTAGACCAT	0.403													4	64	---	---	---	---	0	0
DPAGT1	1798	broad.mit.edu	37	11	118972268	118972268	+	Missense_Mutation	SNP	C	C	A	rs1046375		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:118972268C>A	ENST00000409993.2	-	3	1649	c.98G>T	c.(97-99)cGg>cTg	p.R33L	DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.R33L			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	33				R -> L (in Ref. 1; CAB04787).	dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GAAGTGGCCCCGGAAGGCCGG	0.617											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	223	---	---	---	---	0	0
VWF	7450	broad.mit.edu	37	12	6101119	6101119	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:6101119C>T	ENST00000261405.5	-	38	6918	c.6664G>A	c.(6664-6666)Ggc>Agc	p.G2222S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2222	E2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCACGTTGCCATCACAGTGC	0.567													12	44	---	---	---	---	0	0
KIF21A	55605	broad.mit.edu	37	12	39727024	39727024	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:39727024T>C	ENST00000395670.3	-	18	2896	c.2477A>G	c.(2476-2478)aAa>aGa	p.K826R	KIF21A_ENST00000361961.3_Missense_Mutation_p.K813R|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361418.5_Missense_Mutation_p.K826R|KIF21A_ENST00000544797.2_Missense_Mutation_p.K813R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	826				K -> Q (in Ref. 2; AAP97680).	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCTTCAGTTTTGCGACGTAG	0.343													74	177	---	---	---	---	0	0
LRRK2	120892	broad.mit.edu	37	12	40677930	40677930	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:40677930A>G	ENST00000298910.7	+	19	2553	c.2495A>G	c.(2494-2496)cAa>cGa	p.Q832R	LRRK2_ENST00000343742.2_Missense_Mutation_p.Q832R	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	832					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTAAGGAAACAAACAAGTAAG	0.313													12	52	---	---	---	---	0	0
NAB2	4665	broad.mit.edu	37	12	57486300	57486300	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:57486300C>A	ENST00000300131.3	+	3	1405	c.1027C>A	c.(1027-1029)Ctc>Atc	p.L343I	NAB2_ENST00000357680.4_Intron|NAB2_ENST00000342556.6_Missense_Mutation_p.L343I	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	343	NCD2.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAGAGTGGAGCTCTTCTCTTT	0.582													4	60	---	---	---	---	0	0
BEST3	144453	broad.mit.edu	37	12	70072612	70072612	+	Silent	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:70072612A>G	ENST00000330891.5	-	5	769	c.543T>C	c.(541-543)taT>taC	p.Y181Y	BEST3_ENST00000553096.1_Silent_p.Y75Y|BEST3_ENST00000331471.4_Silent_p.Y181Y|BEST3_ENST00000476098.1_Silent_p.Y19Y|BEST3_ENST00000488961.1_Silent_p.Y19Y	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	181						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATGGAACCCAATATTTCAGAT	0.358													6	50	---	---	---	---	0	0
DIAPH3	81624	broad.mit.edu	37	13	60565296	60565296	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:60565296T>C	ENST00000400324.4	-	12	1577	c.1357A>G	c.(1357-1359)Ata>Gta	p.I453V	DIAPH3_ENST00000267215.4_Missense_Mutation_p.I453V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.I453V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I407V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I442V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I383V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	453	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTACCTTATAAAATAATCA	0.294													10	28	---	---	---	---	0	0
MZT1	440145	broad.mit.edu	37	13	73293092	73293092	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:73293092T>G	ENST00000377818.3	-	2	307	c.223A>C	c.(223-225)Aag>Cag	p.K75Q		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	75					gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCTCCAACCTTCAGTGCTTCA	0.358													13	170	---	---	---	---	0	0
IGHV1-18	0	broad.mit.edu	37	14	106641580	106641580	+	RNA	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr14:106641580C>T	ENST00000390605.2	-	0	392																											CAGTAATACACGGCCGTGTCG	0.542													91	69	---	---	---	---	0	0
FBN1	2200	broad.mit.edu	37	15	48707834	48707834	+	Silent	SNP	A	A	G	rs143055643	byFrequency	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:48707834A>G	ENST00000316623.5	-	64	8405	c.7950T>C	c.(7948-7950)aaT>aaC	p.N2650N	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2650	EGF-like 47; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCACATTCATTGATGTCTT	0.582													47	110	---	---	---	---	0	0
CYP19A1	0	broad.mit.edu	37	15	51507272	51507272	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:51507272A>G	ENST00000396402.1	-	8	1169	c.1016T>C	c.(1015-1017)gTt>gCt	p.V339A	CYP19A1_ENST00000260433.2_Missense_Mutation_p.V339A|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.V339A|CYP19A1_ENST00000396404.4_Missense_Mutation_p.V339A	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	339					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CTTACCAATAACAGTCTGGAT	0.323													10	23	---	---	---	---	0	0
CREBBP	1387	broad.mit.edu	37	16	3789711	3789711	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:3789711C>A	ENST00000262367.5	-	25	4957	c.4148G>T	c.(4147-4149)gGg>gTg	p.G1383V	CREBBP_ENST00000382070.3_Missense_Mutation_p.G1345V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1383	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGACATTTCCCCAGAATCCAC	0.473			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	41	---	---	---	---	0	0
AMFR	267	broad.mit.edu	37	16	56436913	56436913	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:56436913C>A	ENST00000290649.5	-	7	1168	c.958G>T	c.(958-960)Gga>Tga	p.G320*		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	320					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCCATGTTTCCAACCACACGT	0.438													4	122	---	---	---	---	0	0
RPA1	6117	broad.mit.edu	37	17	1787221	1787221	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:1787221C>G	ENST00000254719.5	+	13	1467	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	453					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ATCCGAGAACCTGGGCCAAGG	0.493								Nucleotide excision repair (NER)					31	66	---	---	---	---	0	0
CASKIN2	57513	broad.mit.edu	37	17	73497899	73497899	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:73497899G>T	ENST00000321617.3	-	18	3842	c.3256C>A	c.(3256-3258)Ccg>Acg	p.P1086T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.P1004T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1086	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGCGGCCGGGGGTTCTGTC	0.672													5	240	---	---	---	---	0	0
SBNO2	22904	broad.mit.edu	37	19	1113561	1113561	+	Silent	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:1113561C>T	ENST00000361757.3	-	19	2457	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	SBNO2_ENST00000587024.1_Silent_p.Q730Q|SBNO2_ENST00000438103.2_Silent_p.Q683Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	740					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGCCCAGCTGGTCGATGA	0.697													4	59	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9014619	9014619	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:9014619G>C	ENST00000397910.4	-	31	38559	c.38356C>G	c.(38356-38358)Cag>Gag	p.Q12786E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12788	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTATAGCTGCTCCCTGTCC	0.567													49	129	---	---	---	---	0	0
DHX34	9704	broad.mit.edu	37	19	47856825	47856825	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:47856825G>A	ENST00000328771.4	+	2	887	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	180	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGAGCACCAGGTGGTGGTAGT	0.662													13	47	---	---	---	---	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038263	62038263	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr20:62038263C>T	ENST00000354587.3	-	17	2553	c.2377G>A	c.(2377-2379)Gac>Aac	p.D793N	KCNQ2_ENST00000370224.1_Missense_Mutation_p.D793N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.D754N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D757N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D767N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D785N|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D785N			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	785					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ATGGACGTGTCGCTGTCCCGC	0.672													10	23	---	---	---	---	0	0
UBASH3A	53347	broad.mit.edu	37	21	43829625	43829625	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:43829625C>T	ENST00000319294.6	+	3	293	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	UBASH3A_ENST00000450356.1_Missense_Mutation_p.L88F|UBASH3A_ENST00000291535.6_Missense_Mutation_p.L88F|UBASH3A_ENST00000398367.1_Missense_Mutation_p.L88F	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	88						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GCTGGAAAAACTTCAAGAGTT	0.537													4	112	---	---	---	---	0	0
WDR4	10785	broad.mit.edu	37	21	44283564	44283564	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:44283564T>C	ENST00000398208.2	-	4	498	c.439A>G	c.(439-441)Atg>Gtg	p.M147V	WDR4_ENST00000330317.2_Missense_Mutation_p.M147V|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	147					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TCTAACAGCATAGACAGGTGC	0.612													22	59	---	---	---	---	0	0
DRG1	4733	broad.mit.edu	37	22	31829930	31829930	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr22:31829930G>T	ENST00000331457.4	+	9	1238	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	359					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TGGAGGATGAGGATGTCATTC	0.488													4	80	---	---	---	---	0	0
SYNC	81493	broad.mit.edu	37	1	33149862	33149862	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:33149862T>C	ENST00000373484.3	-	3	1454	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000409190.3_Missense_Mutation_p.Y452C	NM_001161708.1	NP_001155180	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	452	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AACTGACTTATAAGTAGAGAG	0.433													133	186	---	---	---	---	0	0
HCN3	57657	broad.mit.edu	37	1	155255754	155255754	+	Splice_Site	SNP	G	G	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:155255754G>T	ENST00000368358.3	+	6	1484	c.1476G>T	c.(1474-1476)ggG>ggT	p.G492G	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	492						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTACTTTGGGGGTCAGCAGG	0.647													54	114	---	---	---	---	0	0
CCDC74B	91409	broad.mit.edu	37	2	130902456	130902456	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:130902456G>C	ENST00000310463.6	-	1	251	c.114C>G	c.(112-114)agC>agG	p.S38R	CCDC74B_ENST00000409128.1_Missense_Mutation_p.S38R|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S38R|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409234.3_Missense_Mutation_p.S38R	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	38										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGAGCTGCGGGCTCTGCGGCC	0.716													17	24	---	---	---	---	0	0
HOXD10	3236	broad.mit.edu	37	2	176981857	176981857	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:176981857C>T	ENST00000249501.4	+	1	551	c.296C>T	c.(295-297)cCc>cTc	p.P99L	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	99						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGCAAGTCCCCACTTGCTCC	0.448													36	65	---	---	---	---	0	0
ANO10	55129	broad.mit.edu	37	3	43618225	43618225	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:43618225T>C	ENST00000292246.3	-	6	1291	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S	ANO10_ENST00000414522.2_Missense_Mutation_p.N374S|ANO10_ENST00000451430.2_Missense_Mutation_p.N263S|ANO10_ENST00000396091.3_Missense_Mutation_p.N308S|ANO10_ENST00000350459.4_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	374					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ATAGAGACGATTCATGATCTC	0.453													18	34	---	---	---	---	0	0
FYCO1	79443	broad.mit.edu	37	3	46021201	46021201	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:46021201G>A	ENST00000296137.2	-	4	489	c.284C>T	c.(283-285)tCa>tTa	p.S95L	FYCO1_ENST00000535325.1_Missense_Mutation_p.S95L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	95	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTTACCTCTGAGATAGACTT	0.498													38	89	---	---	---	---	0	0
OR5H6	79295	broad.mit.edu	37	3	97984008	97984008	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:97984008T>C	ENST00000383696.2	+	1	921	c.880T>C	c.(880-882)Tac>Cac	p.Y294H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTCTCTATTTTACACTGTCAT	0.378													16	35	---	---	---	---	0	0
CD86	942	broad.mit.edu	37	3	121828209	121828209	+	Silent	SNP	A	A	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:121828209A>T	ENST00000330540.2	+	5	917	c.801A>T	c.(799-801)ctA>ctT	p.L267L	CD86_ENST00000493101.1_Silent_p.L155L|CD86_ENST00000469710.1_Silent_p.L185L|CD86_ENST00000393627.2_Silent_p.L261L|CD86_ENST00000264468.5_Silent_p.L54L	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	267					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTCTAATTCTATGGAAATGGA	0.458													51	92	---	---	---	---	0	0
PIK3CA	5290	broad.mit.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	62	---	---	---	---	0	0
SLC26A1	10861	broad.mit.edu	37	4	985025	985025	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:985025C>T	ENST00000361661.2	-	3	844	c.467G>A	c.(466-468)gGa>gAa	p.G156E	SLC26A1_ENST00000398520.2_Missense_Mutation_p.G156E|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G156E|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	156						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTGTTGGCTCCGGGCTGCAG	0.687													23	32	---	---	---	---	0	0
GRIA1	0	broad.mit.edu	37	5	153144140	153144140	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr5:153144140C>A	ENST00000285900.5	+	12	2313	c.1970C>A	c.(1969-1971)aCa>aAa	p.T657K	GRIA1_ENST00000340592.5_Missense_Mutation_p.T657K|GRIA1_ENST00000518783.1_Missense_Mutation_p.T667K|GRIA1_ENST00000518142.1_Missense_Mutation_p.T577K|GRIA1_ENST00000521843.2_Missense_Mutation_p.T588K|GRIA1_ENST00000448073.4_Missense_Mutation_p.T667K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	657					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCGAAGCAGACAGAAATTGCC	0.502													13	39	---	---	---	---	0	0
EHD1	10938	broad.mit.edu	37	11	64622147	64622147	+	Silent	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:64622147C>T	ENST00000320631.3	-	5	1517	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.P421P	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	421					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGTGCCCGAACGGCCCGTTCA	0.667													13	147	---	---	---	---	0	0
MYO7A	4647	broad.mit.edu	37	11	76893185	76893185	+	Silent	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:76893185C>T	ENST00000409709.3	+	24	3365	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	MYO7A_ENST00000409893.1_Silent_p.D1031D|MYO7A_ENST00000409619.2_Silent_p.D1020D|MYO7A_ENST00000458637.2_Silent_p.D1031D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1031	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACCATGACGACGAGGGTGACC	0.602													5	118	---	---	---	---	0	0
KRT5	3852	broad.mit.edu	37	12	52912785	52912785	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:52912785G>A	ENST00000252242.4	-	2	1105	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	239	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGTCCAGGCGGCCCCGTTCC	0.587													6	272	---	---	---	---	0	0
TXNRD1	7296	broad.mit.edu	37	12	104742131	104742131	+	Splice_Site	SNP	G	G	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:104742131G>T	ENST00000526691.1	+	15	2044	c.1588G>T	c.(1588-1590)Gta>Tta	p.V530L	TXNRD1_ENST00000529546.1_Splice_Site_p.V440L|TXNRD1_ENST00000540716.1_Splice_Site_p.V440L|TXNRD1_ENST00000354940.6_Splice_Site_p.V478L|TXNRD1_ENST00000524698.1_Splice_Site_p.V478L|TXNRD1_ENST00000427956.1_Splice_Site_p.V593L|TXNRD1_ENST00000526950.1_Splice_Site_p.V547L|TXNRD1_ENST00000429002.2_Splice_Site_p.V628L|TXNRD1_ENST00000526390.1_Splice_Site_p.V522L|TXNRD1_ENST00000525566.1_Splice_Site_p.V628L|TXNRD1_ENST00000397736.2_Splice_Site_p.V522L|TXNRD1_ENST00000503506.2_Splice_Site_p.V478L|TXNRD1_ENST00000388854.3_Splice_Site_p.V530L|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000542918.1_Splice_Site_p.V528L	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	628					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TCCCCTGCAGGTATTCACAAC	0.498													63	119	---	---	---	---	0	0
CYFIP1	23191	broad.mit.edu	37	15	22945111	22945111	+	Silent	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr15:22945111G>A	ENST00000313077.7	+	12	1307	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	CYFIP1_ENST00000560848.1_Silent_p.A394A	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	394					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCGACCTGGCGCTGCAGGGCC	0.706													11	16	---	---	---	---	0	0
CACNB1	782	broad.mit.edu	37	17	37334247	37334247	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:37334247T>C	ENST00000394303.3	-	12	1343	c.1136A>G	c.(1135-1137)cAg>cGg	p.Q379R	CACNB1_ENST00000394310.3_Missense_Mutation_p.Q379R|CACNB1_ENST00000344140.5_Missense_Mutation_p.Q424R	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	379					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	AGGGGGGCACTGTGCCAGCTT	0.542													61	123	---	---	---	---	0	0
KANSL1	284058	broad.mit.edu	37	17	44116470	44116470	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:44116470A>C	ENST00000262419.6	-	9	2785	c.2315T>G	c.(2314-2316)cTc>cGc	p.L772R	KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.L772R|KANSL1_ENST00000432791.1_Missense_Mutation_p.L772R|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000574590.1_Missense_Mutation_p.L772R	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	772						MLL1 complex	protein binding										TGGTGGGTTGAGCAAGCGCTC	0.592													35	82	---	---	---	---	0	0
RECQL5	9400	broad.mit.edu	37	17	73627271	73627271	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:73627271C>G	ENST00000317905.5	-	10	1666	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.E476Q	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	503					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGTTCCACTCCCGCTTGTGG	0.647								Other identified genes with known or suspected DNA repair function					43	71	---	---	---	---	0	0
SMAD2	4087	broad.mit.edu	37	18	45368305	45368305	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr18:45368305T>C	ENST00000402690.2	-	11	1691	c.1297A>G	c.(1297-1299)Agt>Ggt	p.S433G	SMAD2_ENST00000262160.6_Missense_Mutation_p.S433G|SMAD2_ENST00000586040.1_Missense_Mutation_p.S403G|SMAD2_ENST00000356825.4_Missense_Mutation_p.S403G	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	433	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CAAGGAGTACTTGTTACCGTC	0.413													18	10	---	---	---	---	0	0
SPPL2B	56928	broad.mit.edu	37	19	2345262	2345262	+	RNA	SNP	G	G	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:2345262G>C	ENST00000452401.2	+	0	1365							Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGGTGGCCTACTGCCA	0.667													30	50	---	---	---	---	0	0
LRG1	116844	broad.mit.edu	37	19	4538288	4538288	+	Silent	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:4538288C>T	ENST00000306390.6	-	2	1168	c.708G>A	c.(706-708)ccG>ccA	p.P236P	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	236						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCAGGTCCGGCTGCGGCA	0.587													43	418	---	---	---	---	0	0
TMEM145	284339	broad.mit.edu	37	19	42820687	42820687	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:42820687T>C	ENST00000598766.1	+	9	773	c.773T>C	c.(772-774)aTt>aCt	p.I258T	TMEM145_ENST00000301204.3_Missense_Mutation_p.I234T			Q8NBT3	TM145_HUMAN	transmembrane protein 145	234						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACCGATGGCATTGGCAACGAG	0.552													11	81	---	---	---	---	0	0
TMEM189	387521	broad.mit.edu	37	20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr20:48699408G>A	ENST00000557021.1	-	8	1170	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L	NM_199203.2	NP_954673			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			GATGCTATATGAATTCTGCCA	0.423													26	35	---	---	---	---	0	0
KCNJ4	3761	broad.mit.edu	37	22	38822859	38822859	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:38822859G>A	ENST00000303592.3	-	2	1537	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	427					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GCCTGCATGCGCTCCAGGTCC	0.692													65	129	---	---	---	---	0	0
SPANXD	64648	broad.mit.edu	37	X	140785743	140785743	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chrX:140785743T>A	ENST00000370515.3	-	2	506	c.173A>T	c.(172-174)aAc>aTc	p.N58I		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TCTTTTAAAGTTCCTCCTGTA	0.483													21	203	---	---	---	---	0	0
MT-ND4	4538	broad.mit.edu	37	M	11280	11280	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chrM:11280T>C	ENST00000361381.2	+	1	521	c.521T>C	c.(520-522)cTa>cCa	p.L174P						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CCTAGGCTCACTAAACATTCT	0.428													3	2	---	---	---	---	0	0
PPP1R8	5511	broad.mit.edu	37	1	28159280	28159280	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:28159280C>A	ENST00000311772.5	+	2	128	c.70C>A	c.(70-72)Cct>Act	p.P24T	PPP1R8_ENST00000373931.4_5'UTR|PPP1R8_ENST00000236412.7_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	24	Interaction with CDC5L, SF3B1 and MELK.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTAAGCCCCCTCCCGGTTT	0.378													4	52	---	---	---	---	0	0
THRAP3	9967	broad.mit.edu	37	1	36755264	36755264	+	Silent	SNP	G	G	T			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:36755264G>T	ENST00000354618.5	+	5	1868	c.1644G>T	c.(1642-1644)ctG>ctT	p.L548L	THRAP3_ENST00000469141.2_Silent_p.L548L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	548					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGACAAGCTGGGAGCGAAAG	0.498			T	USP6	aneurysmal bone cysts								5	141	---	---	---	---	0	0
RBM15	64783	broad.mit.edu	37	1	110882203	110882203	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:110882203G>A	ENST00000369784.3	+	1	1076	c.176G>A	c.(175-177)cGt>cAt	p.R59H	RBM15_ENST00000602849.1_Missense_Mutation_p.R59H|RBM15_ENST00000487146.2_Missense_Mutation_p.R59H	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	59					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAACGCTCCCGTGGTGGTGAG	0.647			T	MKL1	acute megakaryocytic leukemia								4	59	---	---	---	---	0	0
INSRR	3645	broad.mit.edu	37	1	156819189	156819189	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:156819189C>A	ENST00000368195.3	-	6	1689	c.1293G>T	c.(1291-1293)gcG>gcT	p.A431A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	431					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGTGAGCCCCGCGGCCACCC	0.622													4	155	---	---	---	---	0	0
CD1B	910	broad.mit.edu	37	1	158299162	158299162	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:158299162C>A	ENST00000368168.3	-	4	991	c.884G>T	c.(883-885)tGg>tTg	p.W295L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	295	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.W295L(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTTCTTACTCCAGTAGAGGAT	0.552													4	97	---	---	---	---	0	0
LY9	4063	broad.mit.edu	37	1	160769618	160769618	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:160769618T>C	ENST00000368037.5	+	2	314	c.200T>C	c.(199-201)cTa>cCa	p.L67P	LY9_ENST00000341032.4_Missense_Mutation_p.L67P|LY9_ENST00000263285.6_Missense_Mutation_p.L67P|LY9_ENST00000392203.4_Missense_Mutation_p.L67P|LY9_ENST00000368039.2_Missense_Mutation_p.L67P|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.L27P|LY9_ENST00000471816.1_3'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACTCTCCCCCTAAACATCTCA	0.498													3	76	---	---	---	---	0	0
EPHA6	285220	broad.mit.edu	37	3	96533589	96533589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr3:96533589C>A	ENST00000389672.5	+	1	160	c.122C>A	c.(121-123)tCg>tAg	p.S41*	EPHA6_ENST00000470610.2_Nonsense_Mutation_p.S41*	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCCGGGACCTCGCGCAGGGGG	0.716													3	36	---	---	---	---	0	0
ADRB2	154	broad.mit.edu	37	5	148206902	148206902	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr5:148206902C>A	ENST00000305988.4	+	1	747	c.508C>A	c.(508-510)Cag>Aag	p.Q170K		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	170					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	CTTGCCCATTCAGATGCACTG	0.527													6	162	---	---	---	---	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88211351	88211351	+	Silent	SNP	G	G	T			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr9:88211351G>T	ENST00000357081.3	-	18	2493	c.2349C>A	c.(2347-2349)ctC>ctA	p.L783L	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.L795L|AGTPBP1_ENST00000376083.3_Silent_p.L743L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	783					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCGAATACATGAGTGGTTGCA	0.308													4	39	---	---	---	---	0	0
NTNG2	84628	broad.mit.edu	37	9	135073491	135073491	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr9:135073491C>A	ENST00000393229.3	+	3	1128	c.352C>A	c.(352-354)Ccg>Acg	p.P118T	NTNG2_ENST00000393228.4_Missense_Mutation_p.P118T|NTNG2_ENST00000360670.3_Missense_Mutation_p.P118T|NTNG2_ENST00000372179.3_Missense_Mutation_p.P118T	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	118	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTACCCCAGCCCGCTGGAAGC	0.647													4	78	---	---	---	---	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526133	68526133	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr10:68526133C>A	ENST00000433211.2	-	9	1344	c.1170G>T	c.(1168-1170)ctG>ctT	p.L390L	CTNNA3_ENST00000373744.4_Silent_p.L390L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTGTCGTATCCAGGAAAGAGT	0.398													4	107	---	---	---	---	0	0
PANK1	53354	broad.mit.edu	37	10	91404822	91404822	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr10:91404822C>A	ENST00000307534.4	-	1	393	c.238G>T	c.(238-240)Ggg>Tgg	p.G80W		NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	80					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	GCCGACTCCCCCACCTCCTCT	0.771													4	46	---	---	---	---	0	0
IQSEC3	440073	broad.mit.edu	37	12	247627	247627	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr12:247627C>A	ENST00000538872.1	+	4	1216	c.1098C>A	c.(1096-1098)gcC>gcA	p.A366A	IQSEC3_ENST00000382841.2_Silent_p.A63A|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.A366A			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	366					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCCTGGCGGCCGAGAAAGCGC	0.692													3	18	---	---	---	---	0	0
CBLN3	643866	broad.mit.edu	37	14	24897522	24897522	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr14:24897522C>A	ENST00000267406.6	-	2	860	c.390G>T	c.(388-390)gtG>gtT	p.V130V	CBLN3_ENST00000555436.1_Silent_p.V79V	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	130	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		ACACCTTCACCACATGGAACC	0.652													6	209	---	---	---	---	0	0
ZNF106	64397	broad.mit.edu	37	15	42740783	42740783	+	Silent	SNP	G	G	T			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr15:42740783G>T	ENST00000263805.4	-	3	2879	c.2553C>A	c.(2551-2553)tcC>tcA	p.S851S	ZNF106_ENST00000565380.1_Silent_p.S79S|ZNF106_ENST00000565611.1_Silent_p.S36S	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		CCAAGCCAGGGGACGAGGAAA	0.488													4	53	---	---	---	---	0	0
TMX3	54495	broad.mit.edu	37	18	66344377	66344377	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr18:66344377C>A	ENST00000299608.2	-	16	1474	c.1158G>T	c.(1156-1158)ctG>ctT	p.L386L		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	386					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TGATGACACCCAGTGGCAGGC	0.413													4	96	---	---	---	---	0	0
GATAD2A	54815	broad.mit.edu	37	19	19616251	19616251	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr19:19616251C>A	ENST00000404158.1	+	14	2291	c.1873C>A	c.(1873-1875)Cgc>Agc	p.R625S	GATAD2A_ENST00000429563.2_Missense_Mutation_p.R427S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R624S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.R599S|GATAD2A_ENST00000360315.3_Missense_Mutation_p.R624S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.R253S			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	624					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GATCCCACCCCGCTCCATCCC	0.667													4	134	---	---	---	---	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551895	58551895	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr19:58551895C>A	ENST00000282326.1	+	4	695	c.448C>A	c.(448-450)Cag>Aag	p.Q150K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	150					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCAAGGTCCCAGAAAGAACC	0.627													5	125	---	---	---	---	0	0
CYP2D7P1	0	broad.mit.edu	37	22	42540342	42540342	+	RNA	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr22:42540342C>A	ENST00000433992.1	-	0	234				CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						TTGCCCAGCCCGGGCAGTGGC	0.642													3	20	---	---	---	---	0	0
GATA1	2623	broad.mit.edu	37	X	48650528	48650528	+	Silent	SNP	T	T	C			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chrX:48650528T>C	ENST00000376670.3	+	3	609	c.498T>C	c.(496-498)ccT>ccC	p.P166P	GATA1_ENST00000376665.3_Silent_p.P166P	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	166					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ATGGGGGCCCTGACTTTTCCA	0.582			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								3	50	---	---	---	---	0	0
CDK11B	984	broad.mit.edu	37	1	1572563	1572563	+	Splice_Site	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:1572563C>A	ENST00000407249.3	-	16	1580	c.1581G>T	c.(1579-1581)ggG>ggT	p.G527G	CDK11B_ENST00000317673.7_Splice_Site_p.G525G|CDK11B_ENST00000341832.6_Splice_Site_p.G480G|CDK11B_ENST00000340677.5_Splice_Site_p.G514G			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	537	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TCTTCACCTCCCCTGGGAGGG	0.642													4	33	---	---	---	---	0	0
PER3	8863	broad.mit.edu	37	1	7844947	7844947	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:7844947G>T	ENST00000377532.3	+	1	234	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	PER3_ENST00000377541.1_Missense_Mutation_p.G4W|PER3_ENST00000361923.2_Missense_Mutation_p.G4W			P56645	PER3_HUMAN	period circadian clock 3	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GATGCCCCGCGGGGAAGCTCC	0.667													4	17	---	---	---	---	0	0
TNFRSF8	0	broad.mit.edu	37	1	12157182	12157182	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:12157182C>A	ENST00000263932.2	+	3	398	c.176C>A	c.(175-177)cCa>cAa	p.P59Q	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	59					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCAGTGCCCACAGAGGCCT	0.572													5	110	---	---	---	---	0	0
ARID1A	8289	broad.mit.edu	37	1	27058091	27058091	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:27058091C>A	ENST00000324856.7	+	3	2170	c.1799C>A	c.(1798-1800)cCg>cAg	p.P600Q	ARID1A_ENST00000457599.2_Missense_Mutation_p.P600Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.P217Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	600					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCCCTCCACCGCAGGTAAGA	0.577			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	162	---	---	---	---	0	0
IQCC	55721	broad.mit.edu	37	1	32673327	32673327	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:32673327T>C	ENST00000537469.1	+	5	1332	c.1285T>C	c.(1285-1287)Tca>Cca	p.S429P	IQCC_ENST00000291358.6_Missense_Mutation_p.S349P	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	349										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTATGAGGACTCAAATATTAA	0.498													3	151	---	---	---	---	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960126	33960126	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:33960126C>A	ENST00000361328.3	+	8	2335	c.2182C>A	c.(2182-2184)Cat>Aat	p.H728N		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	728					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTTCATTGCCCATCAGCGAAT	0.463													6	155	---	---	---	---	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879530	39879530	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:39879530C>A	ENST00000530275.1	+	1	3380	c.3185C>A	c.(3184-3186)cCg>cAg	p.P1062Q	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1062	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCACTTCCCCGGCAGCTTCA	0.642													3	31	---	---	---	---	0	0
COL11A1	1301	broad.mit.edu	37	1	103387099	103387099	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:103387099C>A	ENST00000358392.2	-	48	4036	c.3719G>T	c.(3718-3720)gGc>gTc	p.G1240V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1112V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1189V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1228V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1228	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTGAGGGCCTCTTGGGCC	0.368													5	225	---	---	---	---	0	0
SLC16A4	9122	broad.mit.edu	37	1	110921517	110921517	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:110921517C>A	ENST00000369779.4	-	6	1237	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	SLC16A4_ENST00000541986.1_Missense_Mutation_p.G268W|SLC16A4_ENST00000437429.2_Missense_Mutation_p.G220W|SLC16A4_ENST00000472422.2_Missense_Mutation_p.G282W|SLC16A4_ENST00000369781.4_Intron	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	330						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	ATGTCAATCCCCAGTGTTTTG	0.413													5	111	---	---	---	---	0	0
CD101	9398	broad.mit.edu	37	1	117552477	117552477	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:117552477C>T	ENST00000256652.4	+	2	107	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	CD101_ENST00000369470.1_Missense_Mutation_p.L17F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	17					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACAAGCTAAGCTCAGCATTGG	0.443													28	39	---	---	---	---	0	0
NUP210L	91181	broad.mit.edu	37	1	153965386	153965386	+	Silent	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:153965386G>T	ENST00000368559.3	-	40	5663	c.5592C>A	c.(5590-5592)ccC>ccA	p.P1864P	NUP210L_ENST00000271854.3_Silent_p.P1712P|NUP210L_ENST00000368553.1_Silent_p.P645P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1864				FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345).		integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGAAGTGAGGGGGAGAACTTG	0.423													8	418	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228482724	228482724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:228482724C>A	ENST00000570156.2	+	48	13000	c.12926C>A	c.(12925-12927)tCg>tAg	p.S4309*	OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S3880*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S3880*|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.S2727*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S999*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S999*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3352	Ig-like 44.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAGGACCTCGGCCACACTC	0.587													4	136	---	---	---	---	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649979	232649979	+	Missense_Mutation	SNP	C	C	T	rs113255944		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:232649979C>T	ENST00000366630.1	-	2	1465	c.1107G>A	c.(1105-1107)atG>atA	p.M369I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M369I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	369					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGCCCGTAGGCATCTGAGTCT	0.507													6	139	---	---	---	---	0	0
SPTBN1	0	broad.mit.edu	37	2	54826279	54826279	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:54826279C>A	ENST00000333896.5	+	2	545	c.160C>A	c.(160-162)Cac>Aac	p.H54N	SPTBN1_ENST00000356805.4_Missense_Mutation_p.H67N	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	67	Actin-binding.|CH 1.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGTCAATTCCCACCTTGCCCG	0.537													6	134	---	---	---	---	0	0
AFF3	3899	broad.mit.edu	37	2	100203740	100203740	+	Splice_Site	SNP	A	A	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:100203740A>G	ENST00000409236.2	-	14	2579	c.2467T>C	c.(2467-2469)Tgt>Cgt	p.C823R	AFF3_ENST00000356421.2_Splice_Site_p.C848R|AFF3_ENST00000317233.4_Splice_Site_p.C823R|AFF3_ENST00000409579.1_Splice_Site_p.C848R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGTTGTCACACTGTATGGGA	0.493													66	95	---	---	---	---	0	0
TMEM177	80775	broad.mit.edu	37	2	120438841	120438841	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:120438841C>A	ENST00000424086.1	+	2	885	c.412C>A	c.(412-414)Cgg>Agg	p.R138R	TMEM177_ENST00000272521.6_Silent_p.R138R|TMEM177_ENST00000401466.1_Silent_p.R138R|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	138						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					AGCAGGCGCCCGGCTGAGAGC	0.602													5	177	---	---	---	---	0	0
MARS2	92935	broad.mit.edu	37	2	198571628	198571628	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:198571628C>A	ENST00000282276.6	+	1	1542	c.1499C>A	c.(1498-1500)cCa>cAa	p.P500Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	500					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGGGAGAGCCCAGTGGATGCT	0.542													6	189	---	---	---	---	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866226	208866226	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:208866226C>A	ENST00000457206.1	-	2	565	c.138G>T	c.(136-138)gtG>gtT	p.V46V	PLEKHM3_ENST00000427836.2_Silent_p.V46V|PLEKHM3_ENST00000389247.4_Silent_p.V46V			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	46					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCATGCCCCACCAGTTCAG	0.483													6	161	---	---	---	---	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671963	238671963	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:238671963G>A	ENST00000244815.5	+	10	1775	c.1535G>A	c.(1534-1536)aGt>aAt	p.S512N	LRRFIP1_ENST00000392000.4_Missense_Mutation_p.S536N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S480N	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	536	DNA-binding.				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		ACAGGTCCAAGTACAGTAGAC	0.473													50	70	---	---	---	---	0	0
TATDN2	9797	broad.mit.edu	37	3	10301992	10301992	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:10301992G>T	ENST00000287652.4	+	3	1637	c.586G>T	c.(586-588)Ggg>Tgg	p.G196W	TATDN2_ENST00000448281.2_Missense_Mutation_p.G196W|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	196						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGGCATCCTGGGGAAATCGAT	0.542													5	78	---	---	---	---	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37034262	37034262	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:37034262C>A	ENST00000322716.5	-	1	533	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	103						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CGGCAGAGCCCGAGGCCTGCA	0.667													5	145	---	---	---	---	0	0
LTF	4057	broad.mit.edu	37	3	46491405	46491405	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:46491405C>A	ENST00000231751.4	-	8	1291	c.996G>T	c.(994-996)agG>agT	p.R332S	LTF_ENST00000417439.1_Missense_Mutation_p.R332S|LTF_ENST00000426532.2_Missense_Mutation_p.R288S	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	332	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CAGAATCTATCCTCGGGGGCA	0.557													30	26	---	---	---	---	0	0
DAG1	1605	broad.mit.edu	37	3	49568992	49568992	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:49568992C>A	ENST00000545947.1	+	6	1770	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T	DAG1_ENST00000308775.2_Missense_Mutation_p.P350T|DAG1_ENST00000538711.1_Missense_Mutation_p.P350T|DAG1_ENST00000539901.1_Missense_Mutation_p.P350T|DAG1_ENST00000541308.1_Missense_Mutation_p.P350T|DAG1_ENST00000515359.2_Missense_Mutation_p.P350T	NM_001177634.2	NP_001171105	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	350	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATTGCTCCTCCAACAGAGAC	0.602													7	184	---	---	---	---	0	0
BBX	56987	broad.mit.edu	37	3	107491592	107491592	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:107491592A>G	ENST00000415149.2	+	11	1351	c.1024A>G	c.(1024-1026)Atg>Gtg	p.M342V	BBX_ENST00000406780.1_Missense_Mutation_p.M342V|BBX_ENST00000325805.8_Missense_Mutation_p.M342V|BBX_ENST00000402543.1_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAAATTAAAATGGAGAAAAC	0.323													82	101	---	---	---	---	0	0
B4GALT4	8702	broad.mit.edu	37	3	118937533	118937533	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:118937533C>A	ENST00000467604.1	-	6	1152	c.761G>T	c.(760-762)tGg>tTg	p.W254L	B4GALT4_ENST00000483209.1_Missense_Mutation_p.W254L|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.W254L|B4GALT4_ENST00000393765.2_Missense_Mutation_p.W254L|B4GALT4_ENST00000460321.1_Intron			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	254					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TCCCCATCCCCAGTAGTTGTT	0.512													5	131	---	---	---	---	0	0
EHHADH	1962	broad.mit.edu	37	3	184922218	184922218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:184922218G>T	ENST00000231887.3	-	6	971	c.896C>A	c.(895-897)tCa>tAa	p.S299*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.S203*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	299	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	AACACCAACTGAGGAGACAGG	0.488													5	111	---	---	---	---	0	0
MAPK10	5602	broad.mit.edu	37	4	86938398	86938398	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr4:86938398G>T	ENST00000395169.3	-	14	1984	c.1264C>A	c.(1264-1266)Ctg>Atg	p.L422M	MAPK10_ENST00000395160.3_3'UTR|MAPK10_ENST00000395166.1_Missense_Mutation_p.L422M|MAPK10_ENST00000395157.3_Missense_Mutation_p.L315M|MAPK10_ENST00000449047.2_Missense_Mutation_p.L315M|MAPK10_ENST00000359221.3_Missense_Mutation_p.L460M|MAPK10_ENST00000361569.2_3'UTR	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	460					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CAACAACCCAGGGGTCCTGCC	0.577													6	134	---	---	---	---	0	0
PCDHA9	0	broad.mit.edu	37	5	140229692	140229692	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr5:140229692C>T	ENST00000378122.3	+	1	2336	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R538C|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGACGCGGG	0.667													105	129	---	---	---	---	0	0
RAB24	53917	broad.mit.edu	37	5	176730072	176730072	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr5:176730072C>A	ENST00000303270.6	-	1	639	c.37G>T	c.(37-39)Ggg>Tgg	p.G13W	RAB24_ENST00000303251.6_Missense_Mutation_p.G42W|RAB24_ENST00000393611.2_Missense_Mutation_p.G42W			Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	42					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGCGGCCCCGATGGTCTGC	0.622													4	54	---	---	---	---	0	0
CAGE1	285782	broad.mit.edu	37	6	7373784	7373784	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:7373784C>T	ENST00000502583.1	-	5	1832	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K	CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K|CAGE1_ENST00000512086.1_Missense_Mutation_p.R423K|CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	423										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGTCATGTACCTTTCCTGTAA	0.348													43	50	---	---	---	---	0	0
DDR1	780	broad.mit.edu	37	6	30857097	30857097	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:30857097C>A	ENST00000324771.8	+	6	855	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	DDR1_ENST00000376568.3_Missense_Mutation_p.Q103K|DDR1_ENST00000454612.2_Missense_Mutation_p.Q103K|DDR1_ENST00000513240.1_Missense_Mutation_p.Q103K|DDR1_ENST00000452441.1_Missense_Mutation_p.Q103K|DDR1_ENST00000376570.4_Missense_Mutation_p.Q103K|DDR1_ENST00000376569.3_Missense_Mutation_p.Q103K|DDR1_ENST00000508312.1_Missense_Mutation_p.Q121K|DDR1_ENST00000376575.3_Missense_Mutation_p.Q103K|DDR1_ENST00000418800.2_Missense_Mutation_p.Q103K|DDR1_ENST00000376567.2_Missense_Mutation_p.Q103K|DDR1_ENST00000446312.1_Missense_Mutation_p.Q103K			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	103	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGTGGGCACCCAGGGACGGCA	0.672													5	130	---	---	---	---	0	0
CUL7	9820	broad.mit.edu	37	6	43006645	43006645	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:43006645C>A	ENST00000535468.1	-	23	4713	c.4627G>T	c.(4627-4629)Ggg>Tgg	p.G1543W	CUL7_ENST00000265348.3_Missense_Mutation_p.G1459W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1459					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTCTGGTTCCCAAACTGCAGC	0.637													6	80	---	---	---	---	0	0
PRKAG2	51422	broad.mit.edu	37	7	151573651	151573651	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr7:151573651C>A	ENST00000287878.4	-	1	559	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W		NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	19					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CCGCCGCTCCCGCCGGGGCTG	0.587													5	90	---	---	---	---	0	0
SH2D4A	63898	broad.mit.edu	37	8	19190527	19190527	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr8:19190527G>T	ENST00000265807.3	+	3	654	c.243G>T	c.(241-243)atG>atT	p.M81I	SH2D4A_ENST00000518040.1_Missense_Mutation_p.M36I|SH2D4A_ENST00000519207.1_Missense_Mutation_p.M81I	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	81						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TATGGGTGATGGGCGAACACC	0.448													5	132	---	---	---	---	0	0
CPNE3	8895	broad.mit.edu	37	8	87549807	87549807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr8:87549807C>A	ENST00000521271.1	+	7	638	c.476C>A	c.(475-477)tCa>tAa	p.S159*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.S159*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	159	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTTGGAAAGTCAGACCCATAC	0.403													28	43	---	---	---	---	0	0
TP53INP1	0	broad.mit.edu	37	8	95942872	95942872	+	Silent	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr8:95942872G>T	ENST00000342697.4	-	4	965	c.558C>A	c.(556-558)ccC>ccA	p.P186P	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_3'UTR|TP53INP1_ENST00000378776.4_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	186					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GAAAGCTCTTGGGTTGTTCCA	0.438													7	287	---	---	---	---	0	0
RUSC2	9853	broad.mit.edu	37	9	35555387	35555387	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr9:35555387C>A	ENST00000455600.1	+	3	2914	c.2345C>A	c.(2344-2346)cCc>cAc	p.P782H		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	782						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTACTCCCCCATCCGGAGT	0.662													8	209	---	---	---	---	0	0
WAC	51322	broad.mit.edu	37	10	28822945	28822945	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:28822945G>A	ENST00000354911.4	+	2	221	c.60G>A	c.(58-60)ggG>ggA	p.G20G	WAC_ENST00000347934.4_Silent_p.G20G|WAC_ENST00000375664.4_5'UTR|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000375646.1_5'UTR	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	20					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACCGGAGGGGGGACTCGCAGC	0.677													4	89	---	---	---	---	0	0
UNC5B	219699	broad.mit.edu	37	10	73047379	73047379	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:73047379C>T	ENST00000335350.6	+	6	1174	c.758C>T	c.(757-759)gCa>gTa	p.A253V	UNC5B_ENST00000373192.4_Missense_Mutation_p.A253V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	253	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TCCAGCTGGGCAGAGTGGTCA	0.667													42	68	---	---	---	---	0	0
SFR1	119392	broad.mit.edu	37	10	105883828	105883828	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:105883828G>T	ENST00000336358.5	+	2	1197	c.678G>T	c.(676-678)caG>caT	p.Q226H	SFR1_ENST00000369729.3_Missense_Mutation_p.Q151H|SFR1_ENST00000369727.3_Missense_Mutation_p.Q164H			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	164					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										AGCAGGTTCAGGAGAAAGAAG	0.363													4	40	---	---	---	---	0	0
HTRA1	5654	broad.mit.edu	37	10	124271537	124271537	+	Silent	SNP	A	A	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:124271537A>G	ENST00000368984.3	+	8	1358	c.1230A>G	c.(1228-1230)tcA>tcG	p.S410S		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	410	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACGTGATCTCAGGAGCGTATA	0.493													3	88	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62288981	62288981	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:62288981G>T	ENST00000378024.4	-	5	13182	c.12908C>A	c.(12907-12909)cCt>cAt	p.P4303H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4303					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTACATCAGGGGCATCGAT	0.522													8	360	---	---	---	---	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516357	118516357	+	Silent	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:118516357C>T	ENST00000361417.2	+	17	3816	c.3405C>T	c.(3403-3405)gaC>gaT	p.D1135D	PHLDB1_ENST00000524713.1_Silent_p.D278D|PHLDB1_ENST00000527898.1_Silent_p.D186D|PHLDB1_ENST00000356063.5_Silent_p.D1088D|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1135										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCTCCCCTGACAACATGTCCA	0.642													34	54	---	---	---	---	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319507	130319507	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:130319507C>A	ENST00000299164.2	+	1	639	c.639C>A	c.(637-639)ttC>ttA	p.F213L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	213					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCAAGCGTTTCGTGTCTATCC	0.667													3	18	---	---	---	---	0	0
LEPREL2	10536	broad.mit.edu	37	12	6943162	6943162	+	RNA	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:6943162G>T	ENST00000251761.8	+	0	1440				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						GGGCGGTGTTGGATGGGCTGC	0.587													5	125	---	---	---	---	0	0
HIGD1C	613227	broad.mit.edu	37	12	51347860	51347860	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:51347860C>A	ENST00000398455.3	+	1	156	c.79C>A	c.(79-81)Ccc>Acc	p.P27T		NM_001109619.1	NP_001103089.1	A8MV81	HIG1C_HUMAN	HIG1 hypoxia inducible domain family, member 1C	27	HIG1.					integral to membrane				lung(1)	1						TAGAGACTCCCCCTTTGTCCC	0.418													6	112	---	---	---	---	0	0
GRIP1	23426	broad.mit.edu	37	12	66935631	66935631	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:66935631C>A	ENST00000359742.4	-	3	476	c.236G>T	c.(235-237)aGa>aTa	p.R79I	GRIP1_ENST00000398016.3_Missense_Mutation_p.R79I|GRIP1_ENST00000286445.7_Missense_Mutation_p.R79I			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	79	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATTAGATACTCTTGGCTTGCC	0.468													7	380	---	---	---	---	0	0
LGR5	8549	broad.mit.edu	37	12	71978504	71978504	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:71978504C>A	ENST00000266674.5	+	18	3025	c.2714C>A	c.(2713-2715)cCa>cAa	p.P905Q	LGR5_ENST00000536515.1_Missense_Mutation_p.P833Q|LGR5_ENST00000540815.2_Missense_Mutation_p.P881Q			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	905						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCATTTGTCCCATGTCTCTAA	0.428													5	163	---	---	---	---	0	0
BIVM-ERCC5	0	broad.mit.edu	37	13	103492069	103492069	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr13:103492069A>C	ENST00000602836.1	+	9	1280	c.1280A>C	c.(1279-1281)cAa>cCa	p.Q427P	BIVM_ENST00000257336.1_Missense_Mutation_p.N456H|BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.N234H	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GAGTGAAGACAATATTTCCAA	0.458													3	132	---	---	---	---	0	0
MCF2L	23263	broad.mit.edu	37	13	113732744	113732744	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr13:113732744G>A	ENST00000397030.1	+	14	1864	c.1827G>A	c.(1825-1827)agG>agA	p.R609R	MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000375597.4_Silent_p.R574R|MCF2L_ENST00000442652.2_Silent_p.R606R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000423482.2_Silent_p.R574R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000375608.3_Silent_p.R606R|MCF2L_ENST00000375601.3_Silent_p.R580R|MCF2L_ENST00000535094.2_Silent_p.R576R			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	606					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCTACCGGAGGGCCAAGGTGA	0.682													11	20	---	---	---	---	0	0
HEATR5A	25938	broad.mit.edu	37	14	31858176	31858176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:31858176C>A	ENST00000543095.2	-	7	992	c.808G>T	c.(808-810)Gag>Tag	p.E270*	HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.E270*|HEATR5A_ENST00000389961.3_Nonsense_Mutation_p.E264*|HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.E264*|HEATR5A_ENST00000439727.1_5'UTR	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	264							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGAACTTCCTCCAAAGATACT	0.403													4	52	---	---	---	---	0	0
FUT8	2530	broad.mit.edu	37	14	66188637	66188637	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:66188637G>T	ENST00000360689.5	+	8	2707	c.980G>T	c.(979-981)tGg>tTg	p.W327L	FUT8_ENST00000394585.1_Missense_Mutation_p.W327L|FUT8_ENST00000557164.1_Missense_Mutation_p.W164L|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.W327L|FUT8_ENST00000358307.2_Missense_Mutation_p.W198L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	327					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCAGTGTGGTGGGTGTCTCAG	0.483													7	158	---	---	---	---	0	0
ACOT4	122970	broad.mit.edu	37	14	74060421	74060421	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:74060421C>A	ENST00000326303.4	+	2	727	c.473C>A	c.(472-474)cCa>cAa	p.P158Q		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	158					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GGACCCTTCCCAGGGATCATT	0.448													7	131	---	---	---	---	0	0
CLK3	1198	broad.mit.edu	37	15	74911652	74911652	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr15:74911652C>A	ENST00000395066.3	+	2	1020	c.559C>A	c.(559-561)Cga>Aga	p.R187R	CLK3_ENST00000348245.3_Silent_p.R39R|CLK3_ENST00000352989.5_Silent_p.R39R|CLK3_ENST00000345005.4_Silent_p.R39R	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	187	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						ATACCCGTCCCGAAGGGAGCC	0.592													4	121	---	---	---	---	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100821478	100821478	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr15:100821478C>A	ENST00000268070.4	-	4	850	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	249	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCCTCGGCCCCGTGGTACTGC	0.652													4	109	---	---	---	---	0	0
MPG	4350	broad.mit.edu	37	16	133168	133168	+	Missense_Mutation	SNP	C	C	A	rs139123111		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:133168C>A	ENST00000219431.4	+	4	664	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	MPG_ENST00000397817.1_Missense_Mutation_p.R128S	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	145					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCAGACCCCCCGCAACCGAGG	0.602								Base excision repair (BER), DNA glycosylases					6	250	---	---	---	---	0	0
SYT17	51760	broad.mit.edu	37	16	19195180	19195180	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:19195180G>A	ENST00000562034.1	+	3	4277	c.479G>A	c.(478-480)cGc>cAc	p.R160H	SYT17_ENST00000568115.1_Missense_Mutation_p.R160H|SYT17_ENST00000355377.2_Missense_Mutation_p.R221H|SYT17_ENST00000562711.2_Missense_Mutation_p.R217H			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	221						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GATGGCTCGCGCCAGGACATG	0.612													7	221	---	---	---	---	0	0
IRX6	79190	broad.mit.edu	37	16	55363122	55363122	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:55363122G>T	ENST00000290552.7	+	5	2564	c.1232G>T	c.(1231-1233)gGa>gTa	p.G411V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	411						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AAAGCCTTTGGAAACCCCAAG	0.622													49	80	---	---	---	---	0	0
GALNS	2588	broad.mit.edu	37	16	88904133	88904133	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:88904133C>T	ENST00000268695.5	-	5	551	c.463G>A	c.(463-465)Gga>Aga	p.G155R	GALNS_ENST00000542788.1_Missense_Mutation_p.G80R	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	155			G -> E (in MPS4A).|G -> R (in MPS4A; severe form).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	TCATCAAATCCGTGCTTCAGG	0.572													49	64	---	---	---	---	0	0
SCIMP	388325	broad.mit.edu	37	17	5126630	5126630	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:5126630C>A	ENST00000574081.1	-	2	247	c.143G>T	c.(142-144)cGa>cTa	p.R48L	RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Intron|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.R48L|SCIMP_ENST00000399600.4_Intron	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN	SLP adaptor and CSK interacting membrane protein	48						integral to membrane											GCCATTACCTCGTCTAAGCTG	0.512													7	511	---	---	---	---	0	0
PIPOX	51268	broad.mit.edu	37	17	27380589	27380589	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:27380589C>A	ENST00000323372.4	+	4	962	c.636C>A	c.(634-636)ccC>ccA	p.P212P	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	212					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TCCTCCGTCCCCTGGGCATTG	0.557													5	68	---	---	---	---	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40849614	40849614	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:40849614C>A	ENST00000264638.4	+	22	3828	c.3611C>A	c.(3610-3612)cCa>cAa	p.P1204Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1204	Laminin G-like 4.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.P1204R(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TACAACACCCCAGGTTTCTCA	0.582													5	110	---	---	---	---	0	0
WNK4	65266	broad.mit.edu	37	17	40939533	40939533	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:40939533C>A	ENST00000246914.5	+	7	1735	c.1714C>A	c.(1714-1716)Cgc>Agc	p.R572S	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	572					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTCCTTTTCCGCCACGCCAG	0.617													9	233	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696431	47696431	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:47696431C>G	ENST00000393331.3	-	7	862	c.392G>C	c.(391-393)tGg>tCg	p.W131S	SPOP_ENST00000504102.1_Missense_Mutation_p.W131S|SPOP_ENST00000393328.2_Missense_Mutation_p.W131S|SPOP_ENST00000503676.1_Missense_Mutation_p.W131S|SPOP_ENST00000347630.2_Missense_Mutation_p.W131S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGAATCCCCAGTCTTTGCC	0.453										Prostate(2;0.17)			77	106	---	---	---	---	0	0
SPAG9	9043	broad.mit.edu	37	17	49054554	49054554	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:49054554C>A	ENST00000262013.7	-	27	3646	c.3438G>T	c.(3436-3438)gtG>gtT	p.V1146V	SPAG9_ENST00000505279.1_Silent_p.V1136V|SPAG9_ENST00000357122.4_Silent_p.V1132V|SPAG9_ENST00000510283.1_Silent_p.V989V	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1146					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTAATTCTCACAAAAGAGA	0.388													6	161	---	---	---	---	0	0
AP3D1	8943	broad.mit.edu	37	19	2114785	2114785	+	Silent	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:2114785G>T	ENST00000355272.6	-	21	2591	c.2385C>A	c.(2383-2385)ccC>ccA	p.P795P	AP3D1_ENST00000356926.4_Silent_p.P704P|AP3D1_ENST00000345016.5_Silent_p.P795P|AP3D1_ENST00000350812.6_Silent_p.P626P	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	795					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGTCGTTGGGGTCTTTGT	0.567													5	114	---	---	---	---	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7670124	7670124	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:7670124C>A	ENST00000446248.2	+	2	262	c.161C>A	c.(160-162)cCg>cAg	p.P54Q	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P54Q	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	54					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CACGTGCCCCCGGAGCTGTGG	0.622													6	291	---	---	---	---	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29698722	29698722	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:29698722C>A	ENST00000304863.4	-	2	980	c.558G>T	c.(556-558)caG>caT	p.Q186H		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	186					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CTGCAGCTTCCTGCTCAATTT	0.438													7	313	---	---	---	---	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36234735	36234735	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:36234735G>A	ENST00000412391.2	-	7	566	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F|AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Silent_p.S126S			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	185					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCCCATAGAGCTGCCTCTGG	0.572													7	13	---	---	---	---	0	0
SAMD4B	55095	broad.mit.edu	37	19	39866397	39866397	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:39866397C>A	ENST00000314471.6	+	7	1810	c.775C>A	c.(775-777)Cgg>Agg	p.R259R	SAMD4B_ENST00000596368.1_Silent_p.R259R|SAMD4B_ENST00000598913.1_Silent_p.R259R	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	259							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCTTGGGGCCCGGGCTGCTTT	0.647													6	208	---	---	---	---	0	0
MEGF8	1954	broad.mit.edu	37	19	42840497	42840497	+	Splice_Site	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:42840497C>A	ENST00000334370.4	+	6	1878	c.1243C>A	c.(1243-1245)Cgg>Agg	p.R415R	MEGF8_ENST00000251268.6_Splice_Site_p.R415R	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	415						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCCACTGCCCGGTAAGTGAC	0.637													3	34	---	---	---	---	0	0
FOXA3	3171	broad.mit.edu	37	19	46375372	46375372	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:46375372C>A	ENST00000302177.2	+	2	306	c.109C>A	c.(109-111)Ctc>Atc	p.L37I		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	37					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CATGGCCCCCCTCAACTCCTA	0.642													6	118	---	---	---	---	0	0
C5AR1	728	broad.mit.edu	37	19	47823991	47823991	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:47823991C>A	ENST00000355085.3	+	2	979	c.957C>A	c.(955-957)ctC>ctA	p.L319L		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	319					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCAGCCTCCTCCGGAACGTGT	0.592													5	125	---	---	---	---	0	0
FAM83E	54854	broad.mit.edu	37	19	49107168	49107168	+	Splice_Site	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:49107168G>A	ENST00000263266.3	-	4	948	c.759C>T	c.(757-759)agC>agT	p.S253S		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	253										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCACGTGAAGCTGGGGGTCG	0.662													27	36	---	---	---	---	0	0
KLK4	9622	broad.mit.edu	37	19	51412631	51412631	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:51412631C>T	ENST00000324041.1	-	2	100	c.101G>A	c.(100-102)gGc>gAc	p.G34D		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	34	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCAGTCCTCGCCGTTTATGAT	0.647													158	180	---	---	---	---	0	0
KLK5	25818	broad.mit.edu	37	19	51453323	51453323	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:51453323G>A	ENST00000336334.3	-	3	475	c.123C>T	c.(121-123)acC>acT	p.T41T	KLK5_ENST00000593428.1_Silent_p.T41T|KLK5_ENST00000391809.2_Silent_p.T41T	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	41				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CAGAGGGCACGGTGTTAGAGG	0.622													17	20	---	---	---	---	0	0
LILRB5	0	broad.mit.edu	37	19	54755937	54755937	+	Missense_Mutation	SNP	C	C	A	rs144185169	byFrequency	TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:54755937C>A	ENST00000450632.1	-	12	1659	c.1582G>T	c.(1582-1584)Ggg>Tgg	p.G528W	LILRB5_ENST00000316219.5_Missense_Mutation_p.G536W|LILRB5_ENST00000449561.2_Missense_Mutation_p.G537W|LILRB5_ENST00000345866.6_Missense_Mutation_p.G437W			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	536					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCTCCACCCCGTCCTTGGGC	0.627													5	225	---	---	---	---	0	0
NLRP8	126205	broad.mit.edu	37	19	56459478	56459478	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:56459478C>A	ENST00000291971.3	+	1	281	c.210C>A	c.(208-210)ccC>ccA	p.P70P	NLRP8_ENST00000590542.1_Silent_p.P70P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	70	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCACCATGCCCATCACCTGGG	0.542													4	42	---	---	---	---	0	0
ZNF549	256051	broad.mit.edu	37	19	58049137	58049137	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:58049137C>A	ENST00000376233.3	+	4	946	c.765C>A	c.(763-765)tcC>tcA	p.S255S	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Silent_p.S242S|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGGGAAATCCTTGAACTCTA	0.368													5	102	---	---	---	---	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551529	1551529	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:1551529C>A	ENST00000381605.4	-	4	1070	c.1006G>T	c.(1006-1008)Ggg>Tgg	p.G336W	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	336	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCTTGCTGCCCATCATGCTCC	0.547													7	177	---	---	---	---	0	0
AHCY	191	broad.mit.edu	37	20	32878543	32878543	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:32878543T>C	ENST00000538132.1	-	6	1062	c.676A>G	c.(676-678)Atg>Gtg	p.M226V	AHCY_ENST00000217426.2_Missense_Mutation_p.M254V	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	254					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTACCCTCCATGGCAGCCTGC	0.632													86	102	---	---	---	---	0	0
GGT7	2686	broad.mit.edu	37	20	33448108	33448108	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:33448108C>A	ENST00000336431.5	-	5	736	c.692G>T	c.(691-693)gGg>gTg	p.G231V		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	231					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCCGGGAACCCCCACCAAGAG	0.642													5	81	---	---	---	---	0	0
ZFP64	55734	broad.mit.edu	37	20	50776704	50776704	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:50776704G>T	ENST00000216923.4	-	5	1070	c.721C>A	c.(721-723)Cgc>Agc	p.R241S	ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371515.4_Missense_Mutation_p.R239S|ZFP64_ENST00000346617.4_Missense_Mutation_p.R187S|ZFP64_ENST00000361387.2_Missense_Mutation_p.R241S|ZFP64_ENST00000371518.2_Missense_Mutation_p.R241S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGAGTTGCGGCTGGCGTAG	0.577													6	154	---	---	---	---	0	0
LTN1	26046	broad.mit.edu	37	21	30331780	30331780	+	Splice_Site	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr21:30331780C>A	ENST00000389194.2	-	13	2736	c.2731G>T	c.(2731-2733)Gat>Tat	p.D911Y	LTN1_ENST00000361371.5_Splice_Site_p.D865Y	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	865							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AGGCTATTACCTGGCAAATGT	0.388													6	229	---	---	---	---	0	0
HUNK	30811	broad.mit.edu	37	21	33297008	33297008	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr21:33297008C>A	ENST00000270112.2	+	2	850	c.490C>A	c.(490-492)Cgc>Agc	p.R164S		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	164	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTCCGAAGCCCGCAGATACAT	0.597													4	135	---	---	---	---	0	0
MX1	4599	broad.mit.edu	37	21	42817984	42817984	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr21:42817984G>T	ENST00000398600.2	+	15	2214	c.1189G>T	c.(1189-1191)Ggg>Tgg	p.G397W	MX1_ENST00000398598.3_Missense_Mutation_p.G397W|MX1_ENST00000455164.2_Missense_Mutation_p.G397W|MX1_ENST00000288383.6_Missense_Mutation_p.G374W	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	397					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGAAACTGTAGGGGAGGAAGA	0.403													5	95	---	---	---	---	0	0
ARMCX2	9823	broad.mit.edu	37	X	100912074	100912074	+	Silent	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chrX:100912074G>T	ENST00000328766.5	-	5	954	c.501C>A	c.(499-501)ccC>ccA	p.P167P	ARMCX2_ENST00000356824.4_Silent_p.P167P|ARMCX2_ENST00000330154.2_Silent_p.P167P	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	167	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCGCTTCTCTGGGAGCTTCTG	0.647													4	68	---	---	---	---	0	0
RAB40A	142684	broad.mit.edu	37	X	102755042	102755042	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chrX:102755042G>T	ENST00000372633.1	-	1	2761	c.643C>A	c.(643-645)Ccc>Acc	p.P215T	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.P215T			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	215	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AAGGTACTGGGGAGCGGGAGC	0.597													5	92	---	---	---	---	0	0
CCNL2	81669	broad.mit.edu	37	1	1325908	1325908	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:1325908C>G	ENST00000400809.3	-	7	800	c.795G>C	c.(793-795)ttG>ttC	p.L265F	CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	265	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTGCTCCAAACAAAAGAAACC	0.408													23	78	---	---	---	---	0	0
ENO1	2023	broad.mit.edu	37	1	8926490	8926490	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:8926490G>T	ENST00000234590.4	-	7	634	c.515C>A	c.(514-516)cCa>cAa	p.P172Q		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	172	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGCACCGACTGGGAGGATCAT	0.522													6	167	---	---	---	---	0	0
MTOR	2475	broad.mit.edu	37	1	11294298	11294298	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:11294298C>A	ENST00000361445.4	-	14	2309	c.2233G>T	c.(2233-2235)Ggg>Tgg	p.G745W		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	745					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTTCCAATCCCACTGTGCTCC	0.502													6	215	---	---	---	---	0	0
CLCN6	1185	broad.mit.edu	37	1	11889286	11889286	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:11889286C>A	ENST00000312413.6	+	12	1101	c.988C>A	c.(988-990)Cac>Aac	p.H330N	CLCN6_ENST00000376496.3_Silent_p.T385T|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376487.3_Silent_p.T363T|CLCN6_ENST00000346436.6_Silent_p.T385T			P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	0					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGGTAACCACCGTGGTGG	0.493													7	192	---	---	---	---	0	0
NPPB	4879	broad.mit.edu	37	1	11918865	11918865	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:11918865C>A	ENST00000376468.3	-	1	123	c.26G>T	c.(25-27)cGg>cTg	p.R9L		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	9					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CAGGAGCGCCCGGGAAGGTGC	0.652													4	99	---	---	---	---	0	0
VPS13D	55187	broad.mit.edu	37	1	12567061	12567061	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:12567061G>T	ENST00000358136.3	+	69	13079	c.12949G>T	c.(12949-12951)Ggg>Tgg	p.G4317W	VPS13D_ENST00000543766.1_Missense_Mutation_p.G315W|VPS13D_ENST00000543710.1_Missense_Mutation_p.G121W|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4292W	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4316					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAAGACCATGGGAAGGTGTA	0.532													6	141	---	---	---	---	0	0
PADI3	51702	broad.mit.edu	37	1	17586228	17586228	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:17586228C>A	ENST00000375460.3	+	2	288	c.248C>A	c.(247-249)cCc>cAc	p.P83H		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	83					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATGAACTCCCCCAGCAATGAC	0.597													5	54	---	---	---	---	0	0
UBR4	23352	broad.mit.edu	37	1	19477100	19477100	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:19477100G>T	ENST00000375267.2	-	49	7404	c.7401C>A	c.(7399-7401)ccC>ccA	p.P2467P	UBR4_ENST00000375217.2_Silent_p.P2467P|UBR4_ENST00000375226.2_Silent_p.P2467P|UBR4_ENST00000375254.3_Silent_p.P2467P			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2467					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTCGTAGTGGGGGCAGCTG	0.532													8	156	---	---	---	---	0	0
ALPL	249	broad.mit.edu	37	1	21889689	21889689	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:21889689G>T	ENST00000374840.3	+	5	634	c.384G>T	c.(382-384)gtG>gtT	p.V128V	ALPL_ENST00000374832.1_Silent_p.V128V|ALPL_ENST00000539907.1_Silent_p.V51V|ALPL_ENST00000540617.1_Silent_p.V73V|ALPL_ENST00000425315.2_Silent_p.V128V|ALPL_ENST00000468526.1_3'UTR	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	128			V -> M (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	AGGGCACCGTGGGGGTAAGCG	0.662													5	85	---	---	---	---	0	0
RPL11	6135	broad.mit.edu	37	1	24019135	24019135	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:24019135C>T	ENST00000374550.3	+	2	88	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	15					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATGCGGGAACTTCGCATCCG	0.547													8	145	---	---	---	---	0	0
ZNF593	51042	broad.mit.edu	37	1	26496949	26496949	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:26496949C>A	ENST00000270812.5	+	2	283	c.241C>A	c.(241-243)Cga>Aga	p.R81R	RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA|ZNF593_ENST00000374266.5_Silent_p.R81R|RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000444682.1_RNA			O00488	ZN593_HUMAN	zinc finger protein 593	81					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding|transcription corepressor activity|zinc ion binding	p.R81*(1)		large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCACTTCCGATCCAAAGA	0.507													6	238	---	---	---	---	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524858	26524858	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:26524858C>A	ENST00000456354.2	+	6	827	c.760C>A	c.(760-762)Ctc>Atc	p.L254I		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	254					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTACACCCTCTTCATCTG	0.527													7	199	---	---	---	---	0	0
FCN3	8547	broad.mit.edu	37	1	27699642	27699642	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:27699642C>A	ENST00000270879.4	-	5	383	c.378G>T	c.(376-378)gaG>gaT	p.E126D	FCN3_ENST00000354982.2_Missense_Mutation_p.E115D	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	126	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCGCCCCCCTCGGTGTCCA	0.647													6	94	---	---	---	---	0	0
MACF1	23499	broad.mit.edu	37	1	39747939	39747939	+	Silent	SNP	C	C	T	rs143261539		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:39747939C>T	ENST00000564288.1	+	7	1365	c.588C>T	c.(586-588)ctC>ctT	p.L196L	MACF1_ENST00000361689.2_Silent_p.L201L|MACF1_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000545844.1_Silent_p.L201L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000536367.1_Silent_p.L164L|MACF1_ENST00000567887.1_Silent_p.L233L|MACF1_ENST00000372915.3_Silent_p.L201L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	201	Actin-binding.|CH 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAACTACTCCTGTGGACCC	0.438													7	92	---	---	---	---	0	0
CDC20	991	broad.mit.edu	37	1	43825890	43825890	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:43825890G>T	ENST00000372462.1	+	5	786	c.583G>T	c.(583-585)Ggg>Tgg	p.G195W	CDC20_ENST00000310955.6_Missense_Mutation_p.G195W|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	195					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGGAGTTCTGGGAATGTACT	0.532													6	149	---	---	---	---	0	0
KLF17	128209	broad.mit.edu	37	1	44595197	44595197	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:44595197G>T	ENST00000372299.3	+	2	312	c.254G>T	c.(253-255)gGg>gTg	p.G85V	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	85					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTGAATGAAGGGGGGCCACAG	0.557													6	102	---	---	---	---	0	0
PLK3	1263	broad.mit.edu	37	1	45271171	45271171	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:45271171G>T	ENST00000372201.4	+	15	2001	c.1762G>T	c.(1762-1764)Ggg>Tgg	p.G588W	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	588	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GAACTTCTACGGGGACCACAC	0.597													6	268	---	---	---	---	0	0
EPS15	2060	broad.mit.edu	37	1	51869093	51869093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:51869093C>A	ENST00000371733.3	-	17	1885	c.1789G>T	c.(1789-1791)Gag>Tag	p.E597*	EPS15_ENST00000396122.4_Nonsense_Mutation_p.E274*|EPS15_ENST00000371730.2_Nonsense_Mutation_p.E463*	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	597					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTTTTTACCTCTTTTGAATGT	0.363			T	MLL	ALL								5	68	---	---	---	---	0	0
PODN	127435	broad.mit.edu	37	1	53540284	53540284	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:53540284C>A	ENST00000371500.3	+	6	841	c.500C>A	c.(499-501)cCa>cAa	p.P167Q	PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.P186Q|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	138					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAAGGGCTCCCAGAGAAGGCG	0.612													7	229	---	---	---	---	0	0
DIO1	1733	broad.mit.edu	37	1	54360027	54360027	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:54360027G>T	ENST00000525202.1	+	1	144	c.144G>T	c.(142-144)acG>acT	p.T48T	DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Silent_p.T48T|DIO1_ENST00000388876.3_Silent_p.T48T|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000322679.6_Silent_p.T48T|DIO1_ENST00000361921.3_Silent_p.T48T			P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	48					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GCGAGAAGACGGGTATGACCA	0.527													5	150	---	---	---	---	0	0
ABCA4	24	broad.mit.edu	37	1	94502297	94502297	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:94502297C>A	ENST00000370225.3	-	26	3947	c.3861G>T	c.(3859-3861)gcG>gcT	p.A1287A		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1287					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A1287A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCACCATACCCGCAAACAGAG	0.468													5	185	---	---	---	---	0	0
SLC16A4	9122	broad.mit.edu	37	1	110931935	110931935	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:110931935C>A	ENST00000541986.1	-	0	226				SLC16A4_ENST00000369781.4_Missense_Mutation_p.R4M|SLC16A4_ENST00000497687.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000437429.2_De_novo_Start_OutOfFrame|SLC16A4_ENST00000472422.2_Missense_Mutation_p.R4M|SLC16A4_ENST00000369779.4_Missense_Mutation_p.R4M			O15374	MOT5_HUMAN	solute carrier family 16, member 4							integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CTTCCCCTCCCTCTTCAGCAT	0.403													6	104	---	---	---	---	0	0
KCNA3	3738	broad.mit.edu	37	1	111217125	111217125	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:111217125C>A	ENST00000369769.2	-	1	530	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	103						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACGCGCTCCCCGCAGCAGTCC	0.731													4	46	---	---	---	---	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783602	149783602	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:149783602G>T	ENST00000427880.2	-	1	323	c.277C>A	c.(277-279)Cgc>Agc	p.R93S	HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	93					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGGATCTCGCGGGATGTGATG	0.647													4	74	---	---	---	---	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783762	149783762	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:149783762G>T	ENST00000427880.2	-	1	163	c.117C>A	c.(115-117)tcC>tcA	p.S39S	HIST2H2BF_ENST00000545683.1_Silent_p.S39S|HIST2H2BF_ENST00000369167.1_Silent_p.S39S|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	39					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					ACACGTAAACGGAGTAGCTCT	0.562													7	303	---	---	---	---	0	0
C1orf56	54964	broad.mit.edu	37	1	151020889	151020889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:151020889C>A	ENST00000368926.5	+	1	674	c.566C>A	c.(565-567)tCa>tAa	p.S189*		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	189						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGTCACCCTCACCCACAGCC	0.697											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	85	---	---	---	---	0	0
TDRKH	11022	broad.mit.edu	37	1	151752577	151752577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:151752577C>A	ENST00000368822.1	-	4	904	c.271G>T	c.(271-273)Gag>Tag	p.E91*	TDRKH_ENST00000458431.2_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368823.1_Nonsense_Mutation_p.E87*|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Nonsense_Mutation_p.E91*|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.E91*			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	91	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTACATCCTCTGTGTCCACA	0.507													7	130	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152287816	152287816	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:152287816C>A	ENST00000368799.1	-	2	152	c.117G>T	c.(115-117)aaG>aaT	p.K39N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	39	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.K39N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGAAATTCCTTTTCCAGAA	0.328									Ichthyosis				7	184	---	---	---	---	0	0
SLC27A3	11000	broad.mit.edu	37	1	153748239	153748239	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:153748239G>T	ENST00000271857.2	+	1	1410	c.650G>T	c.(649-651)cGg>cTg	p.R217L	SLC27A3_ENST00000368661.3_Missense_Mutation_p.R136L|SLC27A3_ENST00000484014.1_Intron			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	136					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACGGCTCGCGGCGCTTTAGC	0.711													3	10	---	---	---	---	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779038	156779038	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:156779038G>T	ENST00000392306.2	-	7	1128	c.989C>A	c.(988-990)cCt>cAt	p.P330H	SH2D2A_ENST00000368198.3_Missense_Mutation_p.P302H|SH2D2A_ENST00000368199.3_Missense_Mutation_p.P320H	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	320	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.P320H(1)|p.P330H(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGTAGGACAGGGTGCCCAAG	0.602													9	260	---	---	---	---	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156916777	156916777	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:156916777C>A	ENST00000368194.3	-	27	3558	c.2519G>T	c.(2518-2520)cGg>cTg	p.R840L	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R216L|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R800L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	800	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.R840L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTTCCTCCCGGAGCTTCTT	0.542													5	177	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158648265	158648265	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:158648265C>A	ENST00000368147.4	-	6	918	c.738G>T	c.(736-738)tgG>tgT	p.W246C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAAGGCGCTCCCAGGCAGCAT	0.453													5	83	---	---	---	---	0	0
AXDND1	126859	broad.mit.edu	37	1	179437608	179437608	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:179437608G>A	ENST00000367618.3	+	17	2216	c.1829G>A	c.(1828-1830)aGt>aAt	p.S610N	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	610										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGTTTGATTAGTTCTCTTGAC	0.294													4	50	---	---	---	---	0	0
XPR1	9213	broad.mit.edu	37	1	180772720	180772720	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:180772720C>A	ENST00000367590.4	+	4	618	c.420C>A	c.(418-420)ctC>ctA	p.L140L	XPR1_ENST00000367589.3_Silent_p.L140L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	140	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGTTCTACCTCAGTCTAATCC	0.403													5	122	---	---	---	---	0	0
NCF2	4688	broad.mit.edu	37	1	183536470	183536470	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:183536470C>A	ENST00000413720.1	-	7	863	c.589G>T	c.(589-591)Ggg>Tgg	p.G197W	NCF2_ENST00000367535.3_Missense_Mutation_p.G242W|NCF2_ENST00000418089.1_Missense_Mutation_p.G161W|NCF2_ENST00000367536.1_Missense_Mutation_p.G242W	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	242					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TGAGCCTCCCCTTCCAGAGCC	0.532													7	262	---	---	---	---	0	0
SHISA4	149345	broad.mit.edu	37	1	201860964	201860964	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:201860964C>A	ENST00000362011.6	+	5	871	c.584C>A	c.(583-585)cCg>cAg	p.P195Q	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	195	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						CCCTCTTACCCGGGAGCCTGA	0.577													5	158	---	---	---	---	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433187	204433187	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:204433187C>A	ENST00000367187.3	-	6	1819	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V	PIK3C2B_ENST00000424712.2_Silent_p.V421V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	421					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAAAGTCACCCACGTCCACAT	0.542													6	149	---	---	---	---	0	0
CR1	1378	broad.mit.edu	37	1	207741321	207741321	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:207741321C>A	ENST00000367049.4	+	25	4105	c.4105C>A	c.(4105-4107)Cgc>Agc	p.R1369S	CR1_ENST00000367053.1_Missense_Mutation_p.R919S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R919S|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.R919S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	919	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGCACCATCCGCTGCACAAG	0.542													6	200	---	---	---	---	0	0
NID1	4811	broad.mit.edu	37	1	236180449	236180449	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:236180449C>A	ENST00000264187.6	-	10	2335	c.2253G>T	c.(2251-2253)gtG>gtT	p.V751V	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	751	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGAACTTACCCACACACGTTC	0.478													7	179	---	---	---	---	0	0
RYR2	6262	broad.mit.edu	37	1	237806690	237806690	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:237806690C>A	ENST00000366574.2	+	48	7602	c.7285C>A	c.(7285-7287)Ctg>Atg	p.L2429M	RYR2_ENST00000360064.6_Missense_Mutation_p.L2427M|RYR2_ENST00000542537.1_Missense_Mutation_p.L2413M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2429	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTCATTCCCCTGGGAGATTT	0.428													6	138	---	---	---	---	0	0
CHRM3	1131	broad.mit.edu	37	1	240072328	240072328	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:240072328G>T	ENST00000255380.4	+	5	2356	c.1577G>T	c.(1576-1578)tGg>tTg	p.W526L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	526					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAAACCTTTTGGAATCTGGGC	0.483													5	83	---	---	---	---	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013490	247013490	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:247013490C>A	ENST00000366508.1	-	33	6059	c.5923G>T	c.(5923-5925)Ggg>Tgg	p.G1975W	AHCTF1_ENST00000326225.3_Missense_Mutation_p.G1949W|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.G1940W			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1940	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACTTCTCTCCCTCTGACCCTT	0.393													6	174	---	---	---	---	0	0
OR2M5	127059	broad.mit.edu	37	1	248308458	248308458	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:248308458G>T	ENST00000366476.1	+	1	9	c.9G>T	c.(7-9)tgG>tgT	p.W3C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCATGGCATGGGAGAATCAGA	0.413													8	283	---	---	---	---	0	0
OR2M3	127062	broad.mit.edu	37	1	248366998	248366998	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:248366998C>A	ENST00000456743.1	+	1	667	c.629C>A	c.(628-630)cCt>cAt	p.P210H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGTTTTCCCTGTTGCAATC	0.418													9	336	---	---	---	---	0	0
NCOA1	8648	broad.mit.edu	37	2	24933958	24933958	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:24933958C>A	ENST00000405141.1	+	15	3288	c.2577C>A	c.(2575-2577)gcC>gcA	p.A859A	NCOA1_ENST00000348332.3_Silent_p.A859A|NCOA1_ENST00000395856.3_Silent_p.A859A|NCOA1_ENST00000407230.1_Silent_p.A708A|NCOA1_ENST00000406961.1_Silent_p.A859A|NCOA1_ENST00000288599.5_Silent_p.A859A|NCOA1_ENST00000538539.1_Silent_p.A859A			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	859	Interaction with CREBBP.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCCACTGCCAGACCCACTT	0.468			T	PAX3	alveolar rhadomyosarcoma								4	41	---	---	---	---	0	0
CAD	790	broad.mit.edu	37	2	27446507	27446507	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:27446507G>T	ENST00000264705.4	+	7	1048	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	CAD_ENST00000403525.1_Missense_Mutation_p.G296W	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	296	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAGAACCATGGGTTTGCTGT	0.557													7	254	---	---	---	---	0	0
C2orf71	388939	broad.mit.edu	37	2	29296096	29296096	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:29296096G>T	ENST00000331664.5	-	1	1031	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	344					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CAGAGCATAAGGGGAGACCCT	0.602													7	92	---	---	---	---	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455747	37455747	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:37455747G>T	ENST00000234170.5	-	2	734	c.589C>A	c.(589-591)Cag>Aag	p.Q197K		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	197					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TCCTGAGGCTGGGGTTTCAAA	0.388													5	104	---	---	---	---	0	0
VRK2	7444	broad.mit.edu	37	2	58359012	58359012	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:58359012C>A	ENST00000435505.2	+	12	1491	c.746C>A	c.(745-747)cCc>cAc	p.P249H	VRK2_ENST00000340157.4_Missense_Mutation_p.P249H|VRK2_ENST00000440705.2_Missense_Mutation_p.P226H|VRK2_ENST00000417641.2_Missense_Mutation_p.P249H|VRK2_ENST00000412104.2_Missense_Mutation_p.P249H			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	249	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GGGAAACTTCCCTGGGAACAG	0.468													7	75	---	---	---	---	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69002503	69002503	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:69002503G>T	ENST00000295381.3	+	2	631	c.212G>T	c.(211-213)aGg>aTg	p.R71M	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R71M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R71M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R45M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R64M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	71	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TTTGTGCTGAGGGCGCAGCAG	0.592													7	194	---	---	---	---	0	0
DGUOK	1716	broad.mit.edu	37	2	74177856	74177856	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:74177856C>A	ENST00000264093.4	+	4	673	c.588C>A	c.(586-588)ccC>ccA	p.P196P	DGUOK_ENST00000356837.6_Silent_p.P174P|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	196					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	p.P196P(1)		endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						AGGCTTCTCCCCAGGTAACAC	0.473													7	228	---	---	---	---	0	0
TTC31	64427	broad.mit.edu	37	2	74718660	74718660	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:74718660G>T	ENST00000410003.1	+	8	746	c.737G>T	c.(736-738)gGg>gTg	p.G246V	TTC31_ENST00000233623.5_Missense_Mutation_p.G246V|TTC31_ENST00000442235.2_Missense_Mutation_p.G102V|TTC31_ENST00000463189.1_3'UTR			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	246							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CGCAAGGTTGGGGATTGGCCC	0.552													8	310	---	---	---	---	0	0
IGKV1-6	0	broad.mit.edu	37	2	89266205	89266205	+	RNA	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:89266205G>T	ENST00000464162.1	-	0	81																											ATCCTTACCTGGGAGCCAGAG	0.557													7	231	---	---	---	---	0	0
IGKV2-30	0	broad.mit.edu	37	2	89544388	89544388	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:89544388C>A	ENST00000468494.1	-	0	265																											CCCAGAGTCCCGGTTAGAAAC	0.498													6	234	---	---	---	---	0	0
WDR33	55339	broad.mit.edu	37	2	128463962	128463962	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:128463962C>A	ENST00000322313.4	-	22	4104	c.3946G>T	c.(3946-3948)Ggg>Tgg	p.G1316W		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1316					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATGTTACTCCCTCTACCCCAG	0.617													7	196	---	---	---	---	0	0
POTEF	728378	broad.mit.edu	37	2	130832650	130832650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:130832650C>A	ENST00000357462.5	-	15	2488	c.2395G>T	c.(2395-2397)Gag>Tag	p.E799*	POTEF_ENST00000409914.2_Nonsense_Mutation_p.E799*			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	799	Actin-like.					cell cortex	ATP binding	p.E799K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGGTGCTCCTCGGGAGCCACA	0.577													6	165	---	---	---	---	0	0
MCM6	4175	broad.mit.edu	37	2	136626319	136626319	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:136626319C>A	ENST00000264156.2	-	4	537	c.477G>T	c.(475-477)ttG>ttT	p.L159F		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	159					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCTGACAGTCCAAGCACAGAA	0.502													6	122	---	---	---	---	0	0
NEB	4703	broad.mit.edu	37	2	152404242	152404242	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:152404242C>A	ENST00000427231.2	-	132	20370	c.20168G>T	c.(20167-20169)cGg>cTg	p.R6723L	NEB_ENST00000604864.1_Missense_Mutation_p.R6723L|NEB_ENST00000409198.1_Missense_Mutation_p.R5022L|NEB_ENST00000172853.10_Missense_Mutation_p.R5022L|NEB_ENST00000603639.1_Missense_Mutation_p.R6723L|NEB_ENST00000397345.3_Missense_Mutation_p.R6723L	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5022					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACAATTCCCGATACAGTCT	0.438													3	24	---	---	---	---	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751333	162751333	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:162751333C>A	ENST00000375514.5	+	11	1569	c.1282C>A	c.(1282-1284)Cag>Aag	p.Q428K	SLC4A10_ENST00000446997.1_Missense_Mutation_p.Q447K|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q417K|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q417K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q447K	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	447					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGTTCCTTCCCAGGTATGTAT	0.303													5	114	---	---	---	---	0	0
XIRP2	129446	broad.mit.edu	37	2	168098403	168098403	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:168098403C>A	ENST00000409195.1	+	8	1248	c.1159C>A	c.(1159-1161)Cca>Aca	p.P387T	XIRP2_ENST00000409756.2_Missense_Mutation_p.P387T|XIRP2_ENST00000409605.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409043.1_Missense_Mutation_p.P387T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P387T|XIRP2_ENST00000409273.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409728.1_Missense_Mutation_p.P420T|XIRP2_ENST00000420519.1_Missense_Mutation_p.P420T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	212					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGACAACCCCAGCCAAGCA	0.353													7	139	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179463879	179463879	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:179463879G>T	ENST00000589042.1	-	290	56865	c.56641C>A	c.(56641-56643)Ctc>Atc	p.L18881I	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16313I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9941I|TTN_ENST00000342175.6_Missense_Mutation_p.L10008I|TTN_ENST00000591111.1_Missense_Mutation_p.L17240I|TTN_ENST00000460472.2_Missense_Mutation_p.L9816I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17240	Ig-like 107.		R -> K (in a metastatic melanoma sample; somatic mutation).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACAGAAGAGGTTTCTTGCT	0.353													8	360	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179497435	179497435	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:179497435C>A	ENST00000589042.1	-	235	43522	c.43298G>T	c.(43297-43299)aGg>aTg	p.R14433M	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11865M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5493M|TTN_ENST00000342175.6_Missense_Mutation_p.R5560M|TTN_ENST00000591111.1_Missense_Mutation_p.R12792M|TTN_ENST00000460472.2_Missense_Mutation_p.R5368M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12792	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGGCTCCCTGGATACTTC	0.423													7	226	---	---	---	---	0	0
ANKRD44	91526	broad.mit.edu	37	2	197878372	197878372	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:197878372C>A	ENST00000328737.2	-	18	1788	c.1712G>T	c.(1711-1713)aGg>aTg	p.R571M	ANKRD44_ENST00000337207.5_Missense_Mutation_p.R571M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R571M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R588M			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	596							protein binding	p.R411M(1)|p.R571M(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTCTCATCCCTGATGTCCAG	0.517													8	230	---	---	---	---	0	0
C2orf80	389073	broad.mit.edu	37	2	209047698	209047698	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:209047698C>A	ENST00000341287.4	-	4	392	c.197G>T	c.(196-198)tGg>tTg	p.W66L	C2orf80_ENST00000451346.1_Missense_Mutation_p.W47L|C2orf80_ENST00000453017.1_Missense_Mutation_p.W66L	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	66										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CAGTTCCTCCCACTCCAGCCA	0.453													7	207	---	---	---	---	0	0
ERBB4	2066	broad.mit.edu	37	2	212426647	212426647	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:212426647C>A	ENST00000342788.4	-	20	2778	c.2468G>T	c.(2467-2469)tGg>tTg	p.W823L	ERBB4_ENST00000402597.1_Missense_Mutation_p.W813L|ERBB4_ENST00000436443.1_Missense_Mutation_p.W823L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	823	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGGACACACCAGTTAAGCAG	0.408										TSP Lung(8;0.080)			6	182	---	---	---	---	0	0
PNKD	25953	broad.mit.edu	37	2	219136176	219136176	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:219136176C>A	ENST00000273077.4	+	2	191	c.140C>A	c.(139-141)cCa>cAa	p.P47Q	PNKD_ENST00000472650.1_3'UTR|PNKD_ENST00000248451.3_Missense_Mutation_p.P47Q	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	47				P -> S (in Ref. 9; AAH36457).		membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAGCTCCCCAGAGGGCAAG	0.572													5	91	---	---	---	---	0	0
NYAP2	57624	broad.mit.edu	37	2	226446710	226446710	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:226446710C>A	ENST00000272907.6	+	4	990	c.577C>A	c.(577-579)Ccc>Acc	p.P193T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	193																	GATTCCTCCTCCCAAACCGAA	0.478													7	206	---	---	---	---	0	0
ALPP	250	broad.mit.edu	37	2	233245442	233245442	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:233245442C>A	ENST00000392027.2	+	8	1244	c.975C>A	c.(973-975)ccC>ccA	p.P325P	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	325						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCAGGAACCCCCGCGGCTTCT	0.647													5	58	---	---	---	---	0	0
KCNJ13	3769	broad.mit.edu	37	2	233635818	233635818	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:233635818C>A	ENST00000233826.3	-	2	394	c.255G>T	c.(253-255)ctG>ctT	p.L85L	GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000409779.1_Intron|KCNJ13_ENST00000410029.1_Silent_p.L85L|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	85						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GATCTAGTTCCAGATCACCAT	0.468													5	125	---	---	---	---	0	0
INPP5D	3635	broad.mit.edu	37	2	234113040	234113040	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:234113040C>A	ENST00000359570.5	+	28	3208	c.3208C>A	c.(3208-3210)Cgg>Agg	p.R1070R	INPP5D_ENST00000450745.1_Silent_p.R834R|INPP5D_ENST00000455936.2_Silent_p.R834R			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCCCGCGCCCCGGCTGCGCTC	0.726													3	16	---	---	---	---	0	0
UGT1A4	0	broad.mit.edu	37	2	234628279	234628279	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:234628279C>A	ENST00000373409.3	+	1	856	c.813C>A	c.(811-813)ccC>ccA	p.P271P	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		CGATCATGCCCAACATGGTCT	0.512													7	181	---	---	---	---	0	0
RBM44	375316	broad.mit.edu	37	2	238738070	238738070	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:238738070C>A	ENST00000316997.4	+	13	2946	c.2814C>A	c.(2812-2814)tcC>tcA	p.S938S	RBM44_ENST00000409864.1_Silent_p.S938S	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	937							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CAGAATTCTCCATTTCTAGAT	0.413													7	150	---	---	---	---	0	0
ARPC4	10093	broad.mit.edu	37	3	9845526	9845526	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:9845526G>T	ENST00000397261.3	+	5	894		c.e5-1		ARPC4_ENST00000287613.7_Splice_Site|ARPC4_ENST00000433034.1_Splice_Site|ARPC4_ENST00000498623.2_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Intron	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					TTCTTCCCTAGGGGTATGATA	0.483													7	205	---	---	---	---	0	0
SGOL1	151648	broad.mit.edu	37	3	20219789	20219789	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:20219789G>T	ENST00000412997.1	-	4	741	c.390C>A	c.(388-390)tcC>tcA	p.S130S	SGOL1_ENST00000442720.1_Silent_p.S130S|SGOL1_ENST00000421451.1_Silent_p.S130S|SGOL1_ENST00000419233.2_Silent_p.S130S|SGOL1_ENST00000263753.4_Silent_p.S130S|SGOL1_ENST00000306698.2_Silent_p.S130S|SGOL1_ENST00000429446.3_Silent_p.S130S|SGOL1_ENST00000417364.1_Silent_p.S130S|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000383774.1_Silent_p.S130S|SGOL1_ENST00000437051.1_Silent_p.S130S|SGOL1_ENST00000425061.1_Silent_p.S130S|SGOL1_ENST00000412868.1_Silent_p.S130S|SGOL1_ENST00000452020.1_Silent_p.S130S|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000443724.1_Silent_p.S130S	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	130	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ATAAATTTCTGGAGCTGTCAT	0.303													5	100	---	---	---	---	0	0
SCN11A	11280	broad.mit.edu	37	3	38968409	38968409	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:38968409C>A	ENST00000450244.1	-	4	700	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	SCN11A_ENST00000302328.3_Missense_Mutation_p.G168W|SCN11A_ENST00000456224.3_Missense_Mutation_p.G168W|SCN11A_ENST00000444237.2_Missense_Mutation_p.G168W			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	168					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATATAAATCCCAGTGAAGACA	0.363													6	101	---	---	---	---	0	0
TRAK1	22906	broad.mit.edu	37	3	42251446	42251446	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:42251446C>A	ENST00000327628.5	+	14	2332	c.1932C>A	c.(1930-1932)acC>acA	p.T644T	TRAK1_ENST00000396175.1_Silent_p.T586T|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.T586T	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	644					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCCTAGCTACCTCCACTCCAG	0.567													5	70	---	---	---	---	0	0
BSN	8927	broad.mit.edu	37	3	49691124	49691124	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:49691124G>T	ENST00000296452.4	+	5	4249	c.4135G>T	c.(4135-4137)Ggg>Tgg	p.G1379W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1379					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCAGGGCCCTGGGACCCCAGC	0.622													5	103	---	---	---	---	0	0
APEH	327	broad.mit.edu	37	3	49714355	49714355	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:49714355C>A	ENST00000296456.5	+	10	1297	c.897C>A	c.(895-897)tcC>tcA	p.S299S	APEH_ENST00000438011.1_Silent_p.S299S	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	299					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGGATGACTCCCTGGCTGTCT	0.592													7	117	---	---	---	---	0	0
ARF4	378	broad.mit.edu	37	3	57558024	57558024	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:57558024C>A	ENST00000303436.6	-	6	725	c.458G>T	c.(457-459)tGg>tTg	p.W153L	ARF4_ENST00000489843.1_Splice_Site_p.W44L|ARF4_ENST00000496292.1_Splice_Site_p.W126L	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	153					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		TTGAACATACCACTGTAAAGA	0.343													6	157	---	---	---	---	0	0
PTPRG	5793	broad.mit.edu	37	3	62267307	62267307	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:62267307C>A	ENST00000474889.1	+	27	4212	c.3835C>A	c.(3835-3837)Ctt>Att	p.L1279I	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.L1250I|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1279	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TACCGTCACCCTTATCAGCAA	0.418													5	98	---	---	---	---	0	0
ROBO1	6091	broad.mit.edu	37	3	78696802	78696802	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:78696802G>T	ENST00000436010.2	-	18	3696	c.2699C>A	c.(2698-2700)cCg>cAg	p.P900Q	ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.P939Q			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	939					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGTAAAAGACGGGACTGAAAA	0.343													7	395	---	---	---	---	0	0
BTLA	151888	broad.mit.edu	37	3	112198518	112198518	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:112198518A>G	ENST00000334529.5	-	2	389	c.187T>C	c.(187-189)Tgt>Cgt	p.C63R	BTLA_ENST00000383680.4_Missense_Mutation_p.C63R	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	63	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CTGTTAGCACAGTATTTCACA	0.398													46	75	---	---	---	---	0	0
GTPBP8	29083	broad.mit.edu	37	3	112710070	112710070	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:112710070C>A	ENST00000383677.3	+	1	239	c.224C>A	c.(223-225)cCg>cAg	p.P75Q	GTPBP8_ENST00000383678.2_Missense_Mutation_p.P75Q	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	75					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GACCCAAGCCCGGAGGACATA	0.622													4	58	---	---	---	---	0	0
ATP6V1A	523	broad.mit.edu	37	3	113507718	113507718	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:113507718C>A	ENST00000273398.3	+	7	983	c.875C>A	c.(874-876)cCa>cAa	p.P292Q	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.P259Q	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	292					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGGACTTCCCAGAGGTCTGT	0.388													5	88	---	---	---	---	0	0
DZIP1L	199221	broad.mit.edu	37	3	137796416	137796416	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:137796416G>T	ENST00000327532.2	-	11	1709	c.1347C>A	c.(1345-1347)ccC>ccA	p.P449P	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Silent_p.P449P	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	449						intracellular	zinc ion binding	p.P449P(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCAGCAAAGTGGGGTTACGCC	0.532													6	153	---	---	---	---	0	0
MFSD1	64747	broad.mit.edu	37	3	158541297	158541297	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:158541297G>T	ENST00000415822.2	+	12	1446	c.1305G>T	c.(1303-1305)ctG>ctT	p.L435L	MFSD1_ENST00000392813.4_Silent_p.L396L|MFSD1_ENST00000264266.8_Silent_p.L386L	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	386					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACATCAGCTGGGAACTGCAT	0.418													7	150	---	---	---	---	0	0
PIK3CA	5290	broad.mit.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178921552A>T	ENST00000263967.3	+	5	1191	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345I(4)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACCTACGTGAATGTAAATATT	0.303		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	105	---	---	---	---	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936083	178936083	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178936083A>C	ENST00000263967.3	+	10	1782	c.1625A>C	c.(1624-1626)gAa>gCa	p.E542A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542V(8)|p.E542A(4)|p.E542G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTCTCTCTGAAATCACTGAG	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	56	---	---	---	---	0	0
FAM131A	131408	broad.mit.edu	37	3	184059793	184059793	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:184059793C>A	ENST00000310585.4	+	1	1536	c.172C>A	c.(172-174)Ctg>Atg	p.L58M	FAM131A_ENST00000450976.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000453072.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	58						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCACCTCCCTGCACCTGTG	0.582													7	192	---	---	---	---	0	0
CHRD	8646	broad.mit.edu	37	3	184102330	184102330	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:184102330G>T	ENST00000204604.1	+	13	1692	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.V482V|CHRD_ENST00000545352.1_Silent_p.V112V|CHRD_ENST00000348986.3_Silent_p.V442V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	482	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCAGGCCGTGGGTATCTGCC	0.602													7	213	---	---	---	---	0	0
HES1	3280	broad.mit.edu	37	3	193855647	193855647	+	Silent	SNP	C	C	A	rs144918671		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:193855647C>A	ENST00000232424.3	+	4	704	c.468C>A	c.(466-468)ccC>ccA	p.P156P		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	156	Pro-rich.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TGACCTACCCCGGGCAGCCGC	0.731													4	68	---	---	---	---	0	0
ADD1	118	broad.mit.edu	37	4	2929962	2929962	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:2929962C>A	ENST00000264758.7	+	15	2207	c.2019C>A	c.(2017-2019)ccC>ccA	p.P673P	ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398129.1_Silent_p.P642P|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000446856.1_Silent_p.P642P	NM_014189.3	NP_054908.2	P35611	ADDA_HUMAN	adducin 1 (alpha)	642					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAACTCTCCCCGATCTGTCCC	0.562													9	317	---	---	---	---	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016162	38016162	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:38016162G>T	ENST00000261439.4	+	3	805	c.450G>T	c.(448-450)gcG>gcT	p.A150A	TBC1D1_ENST00000508802.1_Silent_p.A150A	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	150						nucleus	Rab GTPase activator activity	p.A150A(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCGTCAGGCGGGGAAGATCG	0.597													5	148	---	---	---	---	0	0
UGT2B15	7366	broad.mit.edu	37	4	69520828	69520828	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:69520828G>T	ENST00000338206.5	-	4	1087	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	360					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGGTCATTCTGGGGTAACCAC	0.358													7	253	---	---	---	---	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675725	77675725	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:77675725C>A	ENST00000296043.6	+	7	5042	c.4089C>A	c.(4087-4089)ccC>ccA	p.P1363P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1363					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGCCATTCCCTCTGGCTACT	0.642													5	59	---	---	---	---	0	0
CNOT6L	246175	broad.mit.edu	37	4	78647404	78647404	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:78647404C>A	ENST00000504123.1	-	11	1502	c.1372G>T	c.(1372-1374)Ggg>Tgg	p.G458W	CNOT6L_ENST00000264903.4_Missense_Mutation_p.G458W			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	458					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GTGATTCTCCCTTCTGAGCTT	0.418													7	314	---	---	---	---	0	0
MTTP	4547	broad.mit.edu	37	4	100503185	100503185	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:100503185A>G	ENST00000457717.1	+	3	441	c.185A>G	c.(184-186)aAc>aGc	p.N62S	MTTP_ENST00000422897.2_Missense_Mutation_p.N62S|MTTP_ENST00000511045.1_Missense_Mutation_p.N89S|MTTP_ENST00000265517.5_Missense_Mutation_p.N62S	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	62	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ATTTCCTCCAACGTGGATGTG	0.463													32	103	---	---	---	---	0	0
SLC9B2	133308	broad.mit.edu	37	4	103979095	103979095	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:103979095C>A	ENST00000394785.3	-	4	936	c.305G>T	c.(304-306)tGg>tTg	p.W102L	SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.W102L|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W102L	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	102					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										AGTAATTGACCAAACTACAGC	0.363													7	221	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126319956	126319956	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:126319956G>T	ENST00000394329.3	+	2	5206	c.5193G>T	c.(5191-5193)caG>caT	p.Q1731H	FAT4_ENST00000335110.5_Missense_Mutation_p.Q29H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1731	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAACACTTCAGGATATCAATG	0.428													6	126	---	---	---	---	0	0
CPE	1363	broad.mit.edu	37	4	166405652	166405652	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:166405652C>A	ENST00000402744.4	+	5	1149	c.869C>A	c.(868-870)cCg>cAg	p.P290Q		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	290					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	p.P290Q(2)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTTCAACCCGGCCATGTCT	0.512													9	437	---	---	---	---	0	0
CLCN3	0	broad.mit.edu	37	4	170613387	170613387	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:170613387C>A	ENST00000513761.1	+	7	1411	c.852C>A	c.(850-852)ccC>ccA	p.P284P	CLCN3_ENST00000360642.3_Silent_p.P284P|CLCN3_ENST00000347613.4_Silent_p.P284P|CLCN3_ENST00000504131.2_Silent_p.P267P	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	284					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAGAAGGTCCCCTGGTACATG	0.403													8	215	---	---	---	---	0	0
ZDHHC11	79844	broad.mit.edu	37	5	825296	825296	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:825296C>A	ENST00000283441.8	-	8	1389	c.1006G>T	c.(1006-1008)Ggg>Tgg	p.G336W	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G336W	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	336						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GTCGAATCCCCATCCTGGTTT	0.547													7	135	---	---	---	---	0	0
PDZD2	23037	broad.mit.edu	37	5	32090293	32090293	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:32090293C>A	ENST00000438447.1	+	20	7127	c.6739C>A	c.(6739-6741)Cgg>Agg	p.R2247R	PDZD2_ENST00000282493.3_Silent_p.R2247R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2247			R -> Q (in dbSNP:rs10066063).		cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGTCGCTCTCGGGACAGCCA	0.602													6	261	---	---	---	---	0	0
GHR	2690	broad.mit.edu	37	5	42719419	42719419	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:42719419C>A	ENST00000230882.4	+	10	2000	c.1810C>A	c.(1810-1812)Cca>Aca	p.P604T	GHR_ENST00000537449.1_Missense_Mutation_p.P417T|GHR_ENST00000357703.3_Missense_Mutation_p.P582T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	604					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGTACAGTCCCCACAGGGCCT	0.502													5	55	---	---	---	---	0	0
BDP1	55814	broad.mit.edu	37	5	70754459	70754459	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:70754459C>A	ENST00000358731.4	+	2	529	c.266C>A	c.(265-267)tCt>tAt	p.S89Y	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	89	Interaction with ZBTB43.|Ser-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGATCTTCCTCTACTGTTTCA	0.363													7	147	---	---	---	---	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855162	79855162	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:79855162G>T	ENST00000338682.3	-	5	1349	c.677C>A	c.(676-678)cCa>cAa	p.P226Q		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	226						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AGGGGAACCTGGGTCCCAGGT	0.527													6	60	---	---	---	---	0	0
KDM3B	51780	broad.mit.edu	37	5	137722222	137722222	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:137722222C>A	ENST00000314358.5	+	7	1492	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	KDM3B_ENST00000394866.1_Missense_Mutation_p.P87Q	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	431					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGCTCCACCCCAAACACAGTG	0.572													7	93	---	---	---	---	0	0
CCDC69	26112	broad.mit.edu	37	5	150565077	150565077	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:150565077C>A	ENST00000355417.2	-	7	695	c.521G>T	c.(520-522)tGg>tTg	p.W174L	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	174										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCTGCTCCCAGAACTGGCT	0.532													6	154	---	---	---	---	0	0
LCP2	3937	broad.mit.edu	37	5	169697882	169697882	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:169697882C>A	ENST00000046794.5	-	7	979	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	122					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCATCCTCCCCATCCTGGTCA	0.547													4	38	---	---	---	---	0	0
IRF4	3662	broad.mit.edu	37	6	397178	397178	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:397178C>A	ENST00000380956.4	+	5	689	c.563C>A	c.(562-564)cCg>cAg	p.P188Q	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	188					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CAGCCACACCCGGAAATCCCG	0.562			T	IGH@	MM								6	163	---	---	---	---	0	0
TDP2	51567	broad.mit.edu	37	6	24667063	24667063	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:24667063C>A	ENST00000378198.4	-	1	198	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	TDP2_ENST00000545995.1_Missense_Mutation_p.G40W			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	10					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GCCTCCCTCCCGCCCTCCAGG	0.667								Direct reversal of damage					5	217	---	---	---	---	0	0
CCHCR1	54535	broad.mit.edu	37	6	31124678	31124678	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:31124678G>T	ENST00000396268.3	-	3	515	c.327C>A	c.(325-327)ccC>ccA	p.P109P	CCHCR1_ENST00000396263.2_Silent_p.P20P|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000376266.5_Silent_p.P20P|CCHCR1_ENST00000480060.1_Intron	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	20			R -> W (in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130076).		cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GAGTTGAAAGGGGCCGAGCTT	0.552													6	79	---	---	---	---	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833153	31833153	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:31833153C>A	ENST00000544672.1	-	17	1767	c.1471G>T	c.(1471-1473)Ggg>Tgg	p.G491W	SLC44A4_ENST00000229729.6_Missense_Mutation_p.G567W|SLC44A4_ENST00000375562.4_Missense_Mutation_p.G525W	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	567						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAATTCTTCCCGTAGATGGCG	0.547													6	172	---	---	---	---	0	0
SKIV2L	6499	broad.mit.edu	37	6	31929348	31929348	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:31929348C>A	ENST00000375394.2	+	9	927	c.814C>A	c.(814-816)Cca>Aca	p.P272T	SKIV2L_ENST00000544581.1_Missense_Mutation_p.P79T	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	272						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGTATCCACCCCAGAGGCCCC	0.567													6	111	---	---	---	---	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007917	32007917	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:32007917G>T	ENST00000418967.2	+	7	1032	c.874G>T	c.(874-876)Ggt>Tgt	p.G292C	CYP21A2_ENST00000435122.2_Missense_Mutation_p.G262C	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	291			G -> D (in AH3; salt wasting form; less then 1% activity).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CCTCCTGATCGGTGGCACTGA	0.607													7	329	---	---	---	---	0	0
PEX6	5190	broad.mit.edu	37	6	42933787	42933787	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:42933787C>A	ENST00000304611.8	-	12	2426	c.2357G>T	c.(2356-2358)cGg>cTg	p.R786L	PEX6_ENST00000244546.4_Intron	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	786					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTCACCTTCCCGCACATTCTC	0.577													7	186	---	---	---	---	0	0
CUL9	23113	broad.mit.edu	37	6	43166474	43166474	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:43166474C>A	ENST00000252050.4	+	12	3015	c.2931C>A	c.(2929-2931)ccC>ccA	p.P977P	CUL9_ENST00000372647.2_Silent_p.P977P|CUL9_ENST00000354495.3_Silent_p.P867P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	977					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGGGCAGCCCCGGAGGTGCCG	0.642													5	162	---	---	---	---	0	0
CUL9	23113	broad.mit.edu	37	6	43174217	43174217	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:43174217C>A	ENST00000252050.4	+	26	5265	c.5181C>A	c.(5179-5181)gcC>gcA	p.A1727A	CUL9_ENST00000372647.2_Silent_p.A1727A|CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Silent_p.A1617A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1727					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCTGTGATGCCCTTGACCGTT	0.542													6	74	---	---	---	---	0	0
ZNF318	24149	broad.mit.edu	37	6	43316169	43316169	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:43316169G>T	ENST00000361428.2	-	6	3042	c.2965C>A	c.(2965-2967)Cag>Aag	p.Q989K	ZNF318_ENST00000318149.3_Missense_Mutation_p.Q989K	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	989					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.Q989K(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAAGACTTCTGGGATTTATCG	0.448													7	248	---	---	---	---	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47200572	47200572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:47200572C>A	ENST00000296861.2	-	6	2290	c.1897G>T	c.(1897-1899)Gga>Tga	p.G633*		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	633					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTCTTGACTCCAATAATTTCG	0.478													45	120	---	---	---	---	0	0
UBE3D	90025	broad.mit.edu	37	6	83754301	83754301	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:83754301G>T	ENST00000369747.3	-	4	565	c.443C>A	c.(442-444)cCc>cAc	p.P148H		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	148						cytoplasm	ligase activity										ATTAGCAAAGGGGTCAGGATG	0.453													8	257	---	---	---	---	0	0
CYB5R4	51167	broad.mit.edu	37	6	84644322	84644322	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:84644322T>C	ENST00000369681.5	+	11	963	c.823T>C	c.(823-825)Tac>Cac	p.Y275H	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4		FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGGTTTGTACTACAGAAAGTG	0.358													15	20	---	---	---	---	0	0
NUS1	116150	broad.mit.edu	37	6	118015306	118015306	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:118015306C>A	ENST00000368494.3	+	3	823	c.654C>A	c.(652-654)ccC>ccA	p.P218P		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	218					angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		AAAAGAGACCCACAGATTTGG	0.368													5	102	---	---	---	---	0	0
HEY2	23493	broad.mit.edu	37	6	126080848	126080848	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:126080848C>A	ENST00000368364.3	+	5	1111	c.914C>A	c.(913-915)cCg>cAg	p.P305Q	HEY2_ENST00000368365.1_Missense_Mutation_p.P259Q	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	305					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GCCATCAGCCCGCCCTTGTCA	0.597													6	189	---	---	---	---	0	0
TAAR1	134864	broad.mit.edu	37	6	132966571	132966571	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:132966571C>A	ENST00000275216.1	-	1	571	c.572G>T	c.(571-573)gGg>gTg	p.G191V		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	191						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	GGTCAGTACCCCAGATATTTT	0.348													6	114	---	---	---	---	0	0
TCF21	0	broad.mit.edu	37	6	134212883	134212883	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:134212883G>T	ENST00000367882.4	+	2	743	c.483G>T	c.(481-483)gaG>gaT	p.E161D	TCF21_ENST00000237316.3_Missense_Mutation_p.E161D|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	161					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGAAACCCGAGAGTGACCTGA	0.657													4	39	---	---	---	---	0	0
GRM1	2911	broad.mit.edu	37	6	146755622	146755622	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:146755622C>A	ENST00000361719.2	+	9	3745	c.3275C>A	c.(3274-3276)cCg>cAg	p.P1092Q	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1092Q|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1092					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTGGTCTCCCCGCCCGCGGAC	0.652													5	128	---	---	---	---	0	0
EZR	7430	broad.mit.edu	37	6	159190925	159190925	+	Missense_Mutation	SNP	C	C	A	rs142824813	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:159190925C>A	ENST00000367075.3	-	11	1310	c.1142G>T	c.(1141-1143)cGg>cTg	p.R381L	EZR_ENST00000392177.4_Missense_Mutation_p.R349L|EZR_ENST00000337147.7_Missense_Mutation_p.R381L	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	381	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CTCCTGTGCCCGCTTCCTCTC	0.612			T	ROS1	NSCLC								4	128	---	---	---	---	0	0
PDE10A	10846	broad.mit.edu	37	6	165895804	165895804	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:165895804C>A	ENST00000366882.1	-	4	348	c.194G>T	c.(193-195)aGg>aTg	p.R65M	PDE10A_ENST00000354448.4_Splice_Site_p.R65M|PDE10A_ENST00000539869.2_Splice_Site_p.R75M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	65					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ATCACTTACCCTGCTGACTTC	0.348													6	145	---	---	---	---	0	0
GNA12	2768	broad.mit.edu	37	7	2771007	2771007	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:2771007C>A	ENST00000275364.3	-	4	1116	c.954G>T	c.(952-954)agG>agT	p.R318S	GNA12_ENST00000407653.1_Missense_Mutation_p.R242S|GNA12_ENST00000396960.3_Missense_Mutation_p.R170S|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_Missense_Mutation_p.R259S|GNA12_ENST00000544127.1_Missense_Mutation_p.R225S	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	318					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCGGGTCGCCCCTGAAGTCCG	0.567													6	76	---	---	---	---	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6080676	6080676	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:6080676G>T	ENST00000199389.6	-	9	1112	c.966C>A	c.(964-966)acC>acA	p.T322T	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.T198T	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	322	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGAGCTCCAGGGTCGACTCAA	0.458													8	178	---	---	---	---	0	0
HDAC9	9734	broad.mit.edu	37	7	18975506	18975506	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:18975506G>T	ENST00000406451.4	+	23	3019	c.2869G>T	c.(2869-2871)Gat>Tat	p.D957Y	HDAC9_ENST00000432645.2_Missense_Mutation_p.D957Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9		Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGAGGACATGATCTCACAGC	0.423													18	220	---	---	---	---	0	0
PCLO	27445	broad.mit.edu	37	7	82764231	82764231	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:82764231G>T	ENST00000333891.9	-	3	2972	c.2635C>A	c.(2635-2637)Cct>Act	p.P879T	PCLO_ENST00000423517.2_Missense_Mutation_p.P879T	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGTGGGCCAGGGGGTGTTGGT	0.522													9	371	---	---	---	---	0	0
KRIT1	889	broad.mit.edu	37	7	91864869	91864869	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:91864869G>A	ENST00000394507.1	-	9	1360	c.577C>T	c.(577-579)Cct>Tct	p.P193S	KRIT1_ENST00000340022.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394505.2_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	193					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATATGCAGGATTTATGACA	0.393													7	103	---	---	---	---	0	0
COL1A2	1278	broad.mit.edu	37	7	94037158	94037158	+	Splice_Site	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:94037158G>A	ENST00000297268.6	+	13	1065		c.e13-1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTCCATGTAGGGTGAACCTG	0.323										HNSCC(75;0.22)			5	27	---	---	---	---	0	0
MCM7	4176	broad.mit.edu	37	7	99691010	99691010	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:99691010C>A	ENST00000303887.5	-	14	2508	c.1863G>T	c.(1861-1863)atG>atT	p.M621I	MCM7_ENST00000354230.3_Missense_Mutation_p.M445I|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	621	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCACATCCACCATTCTCAGAC	0.537													6	175	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100683342	100683342	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:100683342C>A	ENST00000306151.4	+	3	8709	c.8645C>A	c.(8644-8646)gCc>gAc	p.A2882D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2882	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACGCCGGTGGCCAGTTCTGAG	0.483													10	463	---	---	---	---	0	0
GCC1	79571	broad.mit.edu	37	7	127225212	127225212	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:127225212C>A	ENST00000321407.2	-	1	449	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	9						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGGCCGCCCCCGAAATTCATC	0.592											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	100	---	---	---	---	0	0
LRGUK	136332	broad.mit.edu	37	7	133812132	133812132	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:133812132C>A	ENST00000285928.2	+	1	81	c.12C>A	c.(10-12)tcC>tcA	p.S4S	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	4							ATP binding|kinase activity	p.S4S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TGGCGACCTCCGAGAGGGCTC	0.612													5	140	---	---	---	---	0	0
OR2A12	346525	broad.mit.edu	37	7	143793017	143793017	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:143793017C>T	ENST00000408949.2	+	1	877	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGGAAGATCCTTTCCCTGTT	0.522													80	216	---	---	---	---	0	0
TMEM176A	55365	broad.mit.edu	37	7	150500857	150500857	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:150500857C>A	ENST00000484928.1	+	5	1073	c.492C>A	c.(490-492)ccC>ccA	p.P164P	TMEM176A_ENST00000004103.3_Silent_p.P164P|TMEM176A_ENST00000461345.1_Silent_p.P105P			Q96HP8	T176A_HUMAN	transmembrane protein 176A	164						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGCCCCCACTCAGAGTC	0.537													5	87	---	---	---	---	0	0
TMUB1	83590	broad.mit.edu	37	7	150779390	150779390	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:150779390C>A	ENST00000392818.3	-	2	618	c.261G>T	c.(259-261)acG>acT	p.T87T	TMUB1_ENST00000462940.1_Silent_p.T87T|TMUB1_ENST00000476627.1_Silent_p.T87T|TMUB1_ENST00000482202.1_Silent_p.T87T|TMUB1_ENST00000297533.4_Silent_p.T87T	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	87						cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGTGAACCCCGTGCTGGGCT	0.657													6	214	---	---	---	---	0	0
MFHAS1	9258	broad.mit.edu	37	8	8748567	8748567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:8748567C>A	ENST00000276282.6	-	1	2588	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	668										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AAATGCAGTTCCTCCAGCACC	0.612													4	17	---	---	---	---	0	0
SORBS3	10174	broad.mit.edu	37	8	22423994	22423994	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:22423994C>A	ENST00000240123.7	+	13	1470	c.1087C>A	c.(1087-1089)Cga>Aga	p.R363R	SORBS3_ENST00000428103.1_Silent_p.R21R|RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000523740.1_3'UTR	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	363					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TTCCTCAACCCGAGGTAAGGA	0.612													5	56	---	---	---	---	0	0
ELP3	55140	broad.mit.edu	37	8	27957465	27957465	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:27957465C>A	ENST00000256398.8	+	3	617	c.240C>A	c.(238-240)ccC>ccA	p.P80P	ELP3_ENST00000537665.1_5'UTR|ELP3_ENST00000521015.1_Silent_p.P66P|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000524103.1_Silent_p.P8P|ELP3_ENST00000380353.4_Intron|ELP3_ENST00000542181.1_Intron	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	80					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AGGCGAAACCCATCAGAACTG	0.542													5	80	---	---	---	---	0	0
DUSP4	1846	broad.mit.edu	37	8	29207773	29207773	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:29207773C>A	ENST00000240100.2	-	1	412	c.23G>T	c.(22-24)cGg>cTg	p.R8L		NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	8					endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTCCATCTCCCGCAGCTCCTC	0.701													4	63	---	---	---	---	0	0
GPR124	25960	broad.mit.edu	37	8	37690631	37690631	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:37690631C>A	ENST00000315215.7	+	9	1564	c.1201C>A	c.(1201-1203)Cgc>Agc	p.R401S	GPR124_ENST00000412232.2_Missense_Mutation_p.R401S			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	401					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCGAGCCTCCCGCCGGTGTGA	0.672													5	69	---	---	---	---	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766823	77766823	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:77766823C>A	ENST00000521891.2	+	10	8114	c.7666C>A	c.(7666-7668)Ctc>Atc	p.L2556I	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2511I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2530I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2511I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2511						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGGCAGTTCCCTCACTCAAAT	0.502										HNSCC(33;0.089)			5	96	---	---	---	---	0	0
DECR1	1666	broad.mit.edu	37	8	91029480	91029480	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:91029480G>T	ENST00000522161.1	+	4	854	c.171G>T	c.(169-171)ggG>ggT	p.G57G	DECR1_ENST00000220764.2_Silent_p.G66G|DECR1_ENST00000519007.1_3'UTR			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	66					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCATTACTGGGGGAGGTACTG	0.443													6	135	---	---	---	---	0	0
TRPS1	7227	broad.mit.edu	37	8	116599467	116599467	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:116599467G>T	ENST00000395715.3	-	5	3038	c.2461C>A	c.(2461-2463)Caa>Aaa	p.Q821K	TRPS1_ENST00000519076.1_Missense_Mutation_p.Q562K|TRPS1_ENST00000519674.1_Missense_Mutation_p.Q808K|TRPS1_ENST00000220888.5_Missense_Mutation_p.Q808K|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q812K	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	808					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGGCTTGCTTGGGTGTATGAC	0.587									Langer-Giedion syndrome				7	227	---	---	---	---	0	0
ZNF250	58500	broad.mit.edu	37	8	146108208	146108208	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:146108208C>A	ENST00000292579.7	-	6	491	c.375G>T	c.(373-375)aaG>aaT	p.K125N	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.K120N	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K125N(1)		endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GACTCTCTCCCTTGGTTTCAC	0.403													6	176	---	---	---	---	0	0
MPDZ	8777	broad.mit.edu	37	9	13168532	13168532	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:13168532C>A	ENST00000319217.7	-	22	3334	c.3087G>T	c.(3085-3087)ttG>ttT	p.L1029F	MPDZ_ENST00000536827.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381015.4_Missense_Mutation_p.L1029F|MPDZ_ENST00000546205.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000541718.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000447879.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381022.2_Missense_Mutation_p.L1029F	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1029	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGATCATCCCCAAGCCATCTT	0.363													6	234	---	---	---	---	0	0
IFNA6	3443	broad.mit.edu	37	9	21350489	21350489	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:21350489G>T	ENST00000380210.1	-	1	888	c.398C>A	c.(397-399)cCc>cAc	p.P133H		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	133					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATTCATCAGGGGAGTCCCTCC	0.498													8	293	---	---	---	---	0	0
TAF1L	138474	broad.mit.edu	37	9	32634292	32634292	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:32634292C>A	ENST00000242310.4	-	1	1375	c.1286G>T	c.(1285-1287)tGg>tTg	p.W429L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	429					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGAATCCTCCCAATGCAGCTG	0.458													7	237	---	---	---	---	0	0
UBAP2	55833	broad.mit.edu	37	9	33924204	33924204	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:33924204C>A	ENST00000379238.1	-	23	2707	c.2590G>T	c.(2590-2592)Ggt>Tgt	p.G864C	UBAP2_ENST00000379235.1_Splice_Site_p.G103C|UBAP2_ENST00000360802.1_Splice_Site_p.G864C|UBAP2_ENST00000449054.1_Splice_Site_p.G864C|UBAP2_ENST00000379239.4_Splice_Site_p.G597C|UBAP2_ENST00000539807.1_Splice_Site_p.G619C			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	864										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GCAAACTCACCTGGATATGGA	0.562													6	103	---	---	---	---	0	0
VCP	7415	broad.mit.edu	37	9	35068275	35068275	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:35068275C>A	ENST00000358901.6	-	2	997	c.102G>T	c.(100-102)gaG>gaT	p.E34D		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	34					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CACTGTTGTCCTCATTGATGG	0.443													9	404	---	---	---	---	0	0
SPAG8	26206	broad.mit.edu	37	9	35810051	35810051	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:35810051C>A	ENST00000484764.1	-	7	1358	c.1318G>T	c.(1318-1320)Ggg>Tgg	p.G440W	SPAG8_ENST00000396638.2_Missense_Mutation_p.G448W|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Intron			Q99932	SPAG8_HUMAN	sperm associated antigen 8	81						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AAAAGTTTCCCCAGAGACAAG	0.537													7	173	---	---	---	---	0	0
MAMDC2	256691	broad.mit.edu	37	9	72755164	72755164	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:72755164A>T	ENST00000377182.4	+	8	1715	c.1098A>T	c.(1096-1098)aaA>aaT	p.K366N	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	366	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGAAAGTAAAACCAAACATGT	0.463													7	127	---	---	---	---	0	0
VPS13A	23230	broad.mit.edu	37	9	79834914	79834914	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:79834914C>A	ENST00000360280.3	+	11	1059	c.799C>A	c.(799-801)Cga>Aga	p.R267R	VPS13A_ENST00000376634.4_Silent_p.R267R|VPS13A_ENST00000357409.5_Silent_p.R267R|VPS13A_ENST00000376636.3_Silent_p.R267R	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	267					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATGAATCGCCGATCTGATTT	0.313													5	119	---	---	---	---	0	0
COL15A1	1306	broad.mit.edu	37	9	101787171	101787171	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:101787171C>A	ENST00000375001.3	+	15	2293	c.1870C>A	c.(1870-1872)Cca>Aca	p.P624T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	624	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCAGGACCCCCAGGGCCACC	0.507													5	70	---	---	---	---	0	0
RNF20	56254	broad.mit.edu	37	9	104313041	104313041	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:104313041C>A	ENST00000389120.3	+	10	1336	c.1246C>A	c.(1246-1248)Cac>Aac	p.H416N		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	416					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.H416N(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CAGAGGAACCCACCAGCACCA	0.463													6	199	---	---	---	---	0	0
ZNF462	58499	broad.mit.edu	37	9	109688260	109688260	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:109688260C>A	ENST00000277225.5	+	3	2356	c.2067C>A	c.(2065-2067)ccC>ccA	p.P689P	ZNF462_ENST00000457913.1_Silent_p.P689P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	689					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P689P(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATTTGTCACCCGTGAAGAAGA	0.433													8	248	---	---	---	---	0	0
ZNF462	58499	broad.mit.edu	37	9	109689354	109689354	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:109689354C>A	ENST00000277225.5	+	3	3450	c.3161C>A	c.(3160-3162)cCc>cAc	p.P1054H	ZNF462_ENST00000457913.1_Missense_Mutation_p.P1054H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1054					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGAAACACCCCGAAGAAAAG	0.443													7	188	---	---	---	---	0	0
SPTAN1	6709	broad.mit.edu	37	9	131356647	131356647	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:131356647C>A	ENST00000358161.5	+	24	3522	c.3409C>A	c.(3409-3411)Cag>Aag	p.Q1137K	SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1137K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q1137K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1137					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGATGACTTCCAGAAGGTATG	0.418													4	51	---	---	---	---	0	0
KCNT1	57582	broad.mit.edu	37	9	138683669	138683669	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:138683669C>A	ENST00000298480.5	+	31	3666	c.3592C>A	c.(3592-3594)Ctc>Atc	p.L1198I	KCNT1_ENST00000263604.3_Missense_Mutation_p.L1172I|KCNT1_ENST00000486577.2_Missense_Mutation_p.L1155I|KCNT1_ENST00000490355.2_Missense_Mutation_p.L1176I|KCNT1_ENST00000488444.2_Missense_Mutation_p.L1177I|KCNT1_ENST00000491806.2_Missense_Mutation_p.L1163I|KCNT1_ENST00000487664.1_Missense_Mutation_p.L1153I|KCNT1_ENST00000371757.2_Missense_Mutation_p.L1177I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1177						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAGAACACCCTCTCCTACGT	0.647													6	103	---	---	---	---	0	0
CCNY	219771	broad.mit.edu	37	10	35854950	35854950	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:35854950G>T	ENST00000374704.4	+	9	926		c.e9-1		CCNY_ENST00000339497.5_Splice_Site|CCNY_ENST00000265375.9_Splice_Site|CCNY_ENST00000374706.1_Splice_Site	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y						cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TTGCTTTGCAGGAACGAGCTA	0.473													6	101	---	---	---	---	0	0
STOX1	219736	broad.mit.edu	37	10	70641864	70641864	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:70641864C>A	ENST00000298596.6	+	2	544	c.461C>A	c.(460-462)cCa>cAa	p.P154Q	STOX1_ENST00000399169.4_Missense_Mutation_p.P154Q|STOX1_ENST00000399162.2_Missense_Mutation_p.P154Q|STOX1_ENST00000399165.4_Missense_Mutation_p.P154Q|STOX1_ENST00000421961.2_Missense_Mutation_p.P44Q	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	154						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AAACATTACCCAGGTAGAGTA	0.343													5	89	---	---	---	---	0	0
CDH23	64072	broad.mit.edu	37	10	73571187	73571187	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:73571187C>A	ENST00000224721.6	+	62	9213	c.9208C>A	c.(9208-9210)Ctg>Atg	p.L3070M	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.L825M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3065					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATGTCTGCCCTGCAGGTACC	0.642													5	49	---	---	---	---	0	0
TTC18	118491	broad.mit.edu	37	10	75104886	75104886	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:75104886G>T	ENST00000310715.3	-	6	666	c.546C>A	c.(544-546)tcC>tcA	p.S182S	TTC18_ENST00000340329.3_Silent_p.S182S|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Silent_p.S182S|TTC18_ENST00000394865.1_Silent_p.S182S|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	182							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGGAATGAAGGATTCAGGCA	0.478													8	231	---	---	---	---	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81070925	81070925	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:81070925C>A	ENST00000334512.5	+	24	3652	c.3080C>A	c.(3079-3081)cCg>cAg	p.P1027Q	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1027					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCCGACATGCCGGAGCCTTCG	0.677													5	124	---	---	---	---	0	0
FAS	355	broad.mit.edu	37	10	90768686	90768686	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:90768686C>A	ENST00000355740.2	+	4	595	c.375C>A	c.(373-375)acC>acA	p.T125T	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Silent_p.T125T|FAS_ENST00000355279.2_Silent_p.T125T|FAS_ENST00000357339.2_Silent_p.T125T	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	125					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		CCCAGAATACCAAGTGCAGAT	0.363													9	545	---	---	---	---	0	0
CEP55	55165	broad.mit.edu	37	10	95259849	95259849	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:95259849G>T	ENST00000371485.3	+	2	345	c.41G>T	c.(40-42)tGg>tTg	p.W14L		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	14					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAAAGTAAGTGGGGATCGAAG	0.318													7	242	---	---	---	---	0	0
CC2D2B	387707	broad.mit.edu	37	10	97791669	97791669	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:97791669C>A	ENST00000344386.3	+	9	1037	c.873C>A	c.(871-873)ccC>ccA	p.P291P	ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.P370P|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	291										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CTGAATTTCCCCAGACAGAAT	0.393													6	121	---	---	---	---	0	0
CNNM1	26507	broad.mit.edu	37	10	101120619	101120619	+	Missense_Mutation	SNP	C	C	A	rs150442293		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:101120619C>A	ENST00000356713.4	+	3	2034	c.1745C>A	c.(1744-1746)cCg>cAg	p.P582Q	CNNM1_ENST00000446890.1_Missense_Mutation_p.P511Q|CNNM1_ENST00000370534.4_Missense_Mutation_p.P217Q|CNNM1_ENST00000370528.3_Missense_Mutation_p.P511Q	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	582					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CAGAGGGTCCCGCAACGGGAG	0.527													5	216	---	---	---	---	0	0
PPRC1	23082	broad.mit.edu	37	10	103897727	103897727	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:103897727G>T	ENST00000278070.2	+	2	313	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	PPRC1_ENST00000413464.2_Missense_Mutation_p.G92W	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACACTGCTGGGGACCATGCA	0.547													5	60	---	---	---	---	0	0
PSD	5662	broad.mit.edu	37	10	104165148	104165148	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:104165148C>A	ENST00000020673.5	-	12	2807	c.2281G>T	c.(2281-2283)Ggg>Tgg	p.G761W	PSD_ENST00000406432.1_Missense_Mutation_p.G761W	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	761	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACCAGGGCCCCGTGCTTGTAG	0.662													7	188	---	---	---	---	0	0
COL17A1	1308	broad.mit.edu	37	10	105815721	105815721	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:105815721C>A	ENST00000353479.5	-	18	1796	c.1506G>T	c.(1504-1506)ctG>ctT	p.L502L	COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Silent_p.L502L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	502	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATCCTCTCCAGCTCATCCA	0.602													6	159	---	---	---	---	0	0
CTBP2	1488	broad.mit.edu	37	10	126714705	126714705	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:126714705C>A	ENST00000309035.6	-	1	1754	c.1624G>T	c.(1624-1626)Gcc>Tcc	p.A542S	CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GTGCGCCGGGCCACCTTCTGG	0.682													7	156	---	---	---	---	0	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718821	1718821	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:1718821C>A	ENST00000382160.1	+	1	397	c.346C>A	c.(346-348)Cag>Aag	p.Q116K		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	116						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGCTGTTCCCAGGCCAGCTG	0.577													6	191	---	---	---	---	0	0
OR10A6	390093	broad.mit.edu	37	11	7950138	7950138	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:7950138C>A	ENST00000309838.2	-	1	71	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAGCTGCCCCTGGAGCTCAG	0.433													5	73	---	---	---	---	0	0
RIC3	79608	broad.mit.edu	37	11	8159831	8159831	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:8159831G>T	ENST00000343202.4	-	3	480	c.415C>A	c.(415-417)Cac>Aac	p.H139N	RIC3_ENST00000309737.6_Missense_Mutation_p.H139N|RIC3_ENST00000425599.2_Missense_Mutation_p.H139N|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.H90N|RIC3_ENST00000335425.7_Intron	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	139						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.H139N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATTTTCCTGTGGGTGTTTCCA	0.433													7	310	---	---	---	---	0	0
SBF2	81846	broad.mit.edu	37	11	9878189	9878189	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:9878189G>T	ENST00000256190.8	-	19	2316	c.2179C>A	c.(2179-2181)Ctg>Atg	p.L727M	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	727					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GACTTGCTCAGGGTAGGCCAA	0.463													8	301	---	---	---	---	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564582	33564582	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:33564582C>A	ENST00000321505.4	+	1	762	c.582C>A	c.(580-582)ccC>ccA	p.P194P	KIAA1549L_ENST00000265654.5_Silent_p.P194P|KIAA1549L_ENST00000389726.3_Silent_p.P194P					KIAA1549-like																		GGGCGGTTCCCGCATCACCAT	0.562											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	192	---	---	---	---	0	0
EXT2	2132	broad.mit.edu	37	11	44165856	44165856	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:44165856C>A	ENST00000358681.4	+	8	1399	c.1233C>A	c.(1231-1233)tcC>tcA	p.S411S	EXT2_ENST00000533608.1_Intron|EXT2_ENST00000395673.3_Intron|EXT2_ENST00000343631.3_Intron	NM_001178083.1	NP_001171554.1	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	405					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						AAATGAACTCCCTGATCTGGC	0.478			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				7	136	---	---	---	---	0	0
MTCH2	23788	broad.mit.edu	37	11	47657103	47657103	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:47657103C>A	ENST00000542981.1	-	0	368				MTCH2_ENST00000302503.3_Missense_Mutation_p.K100N			Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2						transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATACCTCACCCTTGTCACTCT	0.403													5	72	---	---	---	---	0	0
CD6	923	broad.mit.edu	37	11	60785403	60785403	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:60785403C>A	ENST00000313421.7	+	11	1941	c.1755C>A	c.(1753-1755)ccC>ccA	p.P585P	CD6_ENST00000344028.5_Silent_p.P553P|CD6_ENST00000352009.5_Silent_p.P553P|CD6_ENST00000452451.2_Silent_p.P544P|CD6_ENST00000346437.4_Silent_p.P512P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	585					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CATGGAACCCCCAGGTGTTTT	0.582													6	112	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62287973	62287973	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62287973G>T	ENST00000378024.4	-	5	14190	c.13916C>A	c.(13915-13917)cCa>cAa	p.P4639Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4639					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATCTGGGACATCAAT	0.537													8	314	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62299931	62299931	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62299931G>T	ENST00000378024.4	-	5	2232	c.1958C>A	c.(1957-1959)cCc>cAc	p.P653H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	653					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTCCTTTGGGTAGAGTCAT	0.502													7	189	---	---	---	---	0	0
SLC3A2	6520	broad.mit.edu	37	11	62649502	62649502	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62649502G>A	ENST00000377892.1	+	6	1182	c.958G>A	c.(958-960)Gat>Aat	p.D320N	SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N|SLC3A2_ENST00000377890.2_Missense_Mutation_p.D289N|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	289				S -> F (in Ref. 5; AAA35489).	blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTCCAAGGAAGATTTTGACAG	0.488													19	65	---	---	---	---	0	0
SF1	7536	broad.mit.edu	37	11	64537847	64537847	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:64537847C>A	ENST00000422298.2	-	0	570				SF1_ENST00000227503.9_Missense_Mutation_p.E90D|SF1_ENST00000334944.5_Missense_Mutation_p.E90D|SF1_ENST00000433274.2_Missense_Mutation_p.E64D|SF1_ENST00000377387.1_Missense_Mutation_p.E215D|SF1_ENST00000377390.3_Missense_Mutation_p.E90D|SF1_ENST00000377394.3_Missense_Mutation_p.E90D			Q15637	SF01_HUMAN	splicing factor 1						nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCCGCTTCCCCTCGCTATTGT	0.532													6	108	---	---	---	---	0	0
C11orf30	56946	broad.mit.edu	37	11	76169379	76169379	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:76169379C>A	ENST00000529032.1	+	4	398	c.398C>A	c.(397-399)cCt>cAt	p.P133H	C11orf30_ENST00000525038.1_Missense_Mutation_p.P147H|C11orf30_ENST00000343878.3_Missense_Mutation_p.P133H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P147H|C11orf30_ENST00000525919.1_Missense_Mutation_p.P133H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P147H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P133H|C11orf30_ENST00000524490.1_Missense_Mutation_p.P133H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	133	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTTCCAGTGCCTGCAGAAACA	0.423													5	79	---	---	---	---	0	0
PAK1	5058	broad.mit.edu	37	11	77051799	77051799	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:77051799C>A	ENST00000356341.3	-	11	1539	c.1008G>T	c.(1006-1008)gtG>gtT	p.V336V	PAK1_ENST00000530617.1_Silent_p.V336V|PAK1_ENST00000278568.4_Silent_p.V336V|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Silent_p.V238V	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	336	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GCTCATCTCCCACGAGGTAAC	0.468													7	253	---	---	---	---	0	0
CCDC81	60494	broad.mit.edu	37	11	86086224	86086224	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:86086224C>A	ENST00000278487.3	+	0	447				CCDC81_ENST00000354755.1_Missense_Mutation_p.R7S|CCDC81_ENST00000445632.2_Missense_Mutation_p.R7S			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81											kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TACGATCGCCCGTGCCCTGCA	0.547													7	234	---	---	---	---	0	0
MMP10	4319	broad.mit.edu	37	11	102647391	102647391	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:102647391G>T	ENST00000279441.4	-	5	775	c.739C>A	c.(739-741)Cag>Aag	p.Q247K		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	247					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AGGCGGAACTGGGCGAGCTCT	0.498													7	106	---	---	---	---	0	0
ACAT1	38	broad.mit.edu	37	11	108017036	108017036	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:108017036C>A	ENST00000265838.4	+	11	1204	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	371					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AGATTGATCCCCAAAAAGTGA	0.363													7	163	---	---	---	---	0	0
SIK2	23235	broad.mit.edu	37	11	111591264	111591264	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:111591264G>T	ENST00000304987.3	+	11	1731	c.1558G>T	c.(1558-1560)Ggg>Tgg	p.G520W	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	520					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GTATGATATGGGGTCTGTTCA	0.453													6	92	---	---	---	---	0	0
DSCAML1	57453	broad.mit.edu	37	11	117310573	117310573	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:117310573C>A	ENST00000321322.6	-	22	4123	c.4122G>T	c.(4120-4122)gtG>gtT	p.V1374V	DSCAML1_ENST00000527706.1_Silent_p.V1104V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1314	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGGATCTCCCACTGAATTGC	0.562													7	183	---	---	---	---	0	0
OAF	220323	broad.mit.edu	37	11	120096400	120096400	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:120096400G>T	ENST00000328965.4	+	2	775	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	OAF_ENST00000531220.1_Intron	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	88										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCTGATCCTGGGGGAGCTGGA	0.627													5	98	---	---	---	---	0	0
GRIK4	2900	broad.mit.edu	37	11	120776122	120776122	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:120776122C>A	ENST00000527524.2	+	13	1683	c.1396C>A	c.(1396-1398)Cgc>Agc	p.R466S	GRIK4_ENST00000438375.2_Missense_Mutation_p.R466S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	466					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTACAAGATCCGCCTGGTTGG	0.592													6	193	---	---	---	---	0	0
PATE1	160065	broad.mit.edu	37	11	125617637	125617637	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:125617637C>A	ENST00000305738.5	+	4	179	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	PATE1_ENST00000437148.2_Missense_Mutation_p.P44Q	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	56						extracellular region				large_intestine(1)|lung(5)	6						CTCCAGTTCCCAGGAGAAAAG	0.478													6	86	---	---	---	---	0	0
SRPR	6734	broad.mit.edu	37	11	126135967	126135967	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:126135967C>A	ENST00000332118.6	-	8	1096	c.942G>T	c.(940-942)aaG>aaT	p.K314N	SRPR_ENST00000532259.1_Missense_Mutation_p.K286N	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	314					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCAGTGTTCCCTTGGTCGCAC	0.493													7	188	---	---	---	---	0	0
APLP2	334	broad.mit.edu	37	11	130013260	130013260	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:130013260C>A	ENST00000263574.5	+	18	2281	c.2209C>A	c.(2209-2211)Cca>Aca	p.P737T	APLP2_ENST00000543137.1_Missense_Mutation_p.P632T|APLP2_ENST00000338167.5_Missense_Mutation_p.P725T|APLP2_ENST00000539648.1_Missense_Mutation_p.P525T|APLP2_ENST00000278756.7_Missense_Mutation_p.P735T|APLP2_ENST00000345598.5_Missense_Mutation_p.P496T|APLP2_ENST00000528499.1_Missense_Mutation_p.P669T	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	737					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AATGCTCACCCCAGAAGAGCG	0.542													6	101	---	---	---	---	0	0
VWF	7450	broad.mit.edu	37	12	6204639	6204639	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:6204639C>A	ENST00000261405.5	-	6	898	c.644G>T	c.(643-645)gGg>gTg	p.G215V	VWF_ENST00000572068.1_Missense_Mutation_p.G252V	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	215	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGCATTTCCCCAGAGGAGAT	0.527													7	111	---	---	---	---	0	0
NCAPD2	9918	broad.mit.edu	37	12	6637434	6637434	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:6637434G>T	ENST00000315579.5	+	25	4038	c.3239G>T	c.(3238-3240)gGg>gTg	p.G1080V	NCAPD2_ENST00000545962.1_Missense_Mutation_p.G1035V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1080					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GTTGCCACTGGGGATCTGGCC	0.557													7	199	---	---	---	---	0	0
CLSTN3	9746	broad.mit.edu	37	12	7293956	7293956	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:7293956C>A	ENST00000537408.1	+	8	2016	c.1478C>A	c.(1477-1479)cCa>cAa	p.P493Q	CLSTN3_ENST00000266546.6_Missense_Mutation_p.P481Q			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	481					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCATCCACCCACCCCGAAGG	0.572											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	155	---	---	---	---	0	0
ABCC9	10060	broad.mit.edu	37	12	21965074	21965074	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:21965074C>A	ENST00000261200.4	-	34	4119	c.4120G>T	c.(4120-4122)Ggg>Tgg	p.G1374W	ABCC9_ENST00000261201.4_Missense_Mutation_p.G1374W|ABCC9_ENST00000345162.2_Missense_Mutation_p.G1338W	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1374	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGTCTATCCCATCAATGACA	0.328													5	111	---	---	---	---	0	0
NELL2	4753	broad.mit.edu	37	12	45269642	45269642	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:45269642C>A	ENST00000429094.2	-	1	515	c.11G>T	c.(10-12)cGg>cTg	p.R4L	NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000333837.4_Missense_Mutation_p.R27L|NELL2_ENST00000437801.2_Missense_Mutation_p.R54L|NELL2_ENST00000548826.1_Missense_Mutation_p.R4L|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000452445.2_Missense_Mutation_p.R4L	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	4					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.R4Q(1)|p.R54Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CAGTAAGACCCGAGACTCCAT	0.517													5	126	---	---	---	---	0	0
GPR84	0	broad.mit.edu	37	12	54756831	54756831	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:54756831C>A	ENST00000551809.1	-	1	1440	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.G269W|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	269						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GATGAGTCCCCTTCCAGGGTC	0.547													7	225	---	---	---	---	0	0
BAZ2A	11176	broad.mit.edu	37	12	56995493	56995493	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:56995493G>T	ENST00000179765.5	-	21	4017	c.3818C>A	c.(3817-3819)cCg>cAg	p.P1273Q	BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1275Q|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P1305Q|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1303Q			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1305	Glu-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGGCTCCTCCGGGGGTTGTGA	0.582													6	213	---	---	---	---	0	0
NAB2	4665	broad.mit.edu	37	12	57485187	57485187	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:57485187C>A	ENST00000300131.3	+	2	741	c.363C>A	c.(361-363)ccC>ccA	p.P121P	NAB2_ENST00000342556.6_Silent_p.P121P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P121P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	121					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P121P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGCTGTTCCCGTCTCCAGCA	0.617													6	158	---	---	---	---	0	0
MARS	4141	broad.mit.edu	37	12	57881902	57881902	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:57881902C>A	ENST00000262027.5	+	1	163	c.29C>A	c.(28-30)cCg>cAg	p.P10Q	ARHGAP9_ENST00000550288.1_Intron|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000393797.2_Intron|MARS_ENST00000315473.5_5'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	10					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GATGGCGTCCCGGGTTGCTTG	0.662													6	186	---	---	---	---	0	0
SLC26A10	65012	broad.mit.edu	37	12	58014048	58014048	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:58014048G>T	ENST00000379218.2	+	1	356	c.45G>T	c.(43-45)ctG>ctT	p.L15L	SLC26A10_ENST00000320442.4_Silent_p.L15L			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	15						integral to membrane	antiporter activity	p.G16*(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTAAGAGTCTGGGAAGTGCAT	0.532													7	274	---	---	---	---	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72056881	72056881	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:72056881C>A	ENST00000378743.3	-	1	868	c.510G>T	c.(508-510)ccG>ccT	p.P170P	ZFC3H1_ENST00000552037.1_Silent_p.P170P|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.P170P|ZFC3H1_ENST00000549407.1_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	170					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTCTGCACCCCGGCTTGCCTC	0.657													6	182	---	---	---	---	0	0
WSB2	55884	broad.mit.edu	37	12	118490251	118490251	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:118490251C>A	ENST00000315436.3	-	2	187	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.G18W|WSB2_ENST00000441406.2_Missense_Mutation_p.G33W	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	16					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGGCGCCCGGGCTTGAGT	0.592													5	165	---	---	---	---	0	0
POLE	5426	broad.mit.edu	37	12	133220064	133220064	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:133220064C>A	ENST00000320574.5	-	34	4416	c.4373G>T	c.(4372-4374)tGg>tTg	p.W1458L	POLE_ENST00000535270.1_Missense_Mutation_p.W1431L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1458					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTCTGCTTCCCAGCCTGAAAG	0.582								DNA polymerases (catalytic subunits)					8	220	---	---	---	---	0	0
XPO4	64328	broad.mit.edu	37	13	21375050	21375050	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:21375050G>T	ENST00000400602.2	-	14	1932	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K	XPO4_ENST00000255305.6_Missense_Mutation_p.Q633K	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	633					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTGCCCATCTGGGGACTTAGT	0.393													6	131	---	---	---	---	0	0
MED4	29079	broad.mit.edu	37	13	48653982	48653982	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:48653982G>T	ENST00000258648.2	-	6	663	c.638C>A	c.(637-639)cCa>cAa	p.P213Q	MED4_ENST00000378586.1_Missense_Mutation_p.P167Q|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000495013.1_5'UTR	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	213					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AACATTACCTGGCAATCTTCC	0.453													5	123	---	---	---	---	0	0
VPS36	51028	broad.mit.edu	37	13	53008975	53008975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:53008975C>A	ENST00000378060.4	-	5	421	c.394G>T	c.(394-396)Gag>Tag	p.E132*	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	132	GLUE C-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		GGCATATTCTCCCATCTTCTT	0.343													7	250	---	---	---	---	0	0
RBM26	64062	broad.mit.edu	37	13	79916824	79916824	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:79916824G>T	ENST00000438737.2	-	17	2842	c.2402C>A	c.(2401-2403)cCa>cAa	p.P801Q	RBM26_ENST00000438724.1_Missense_Mutation_p.P777Q|RBM26_ENST00000267229.7_Missense_Mutation_p.P774Q			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	801					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TATACTTTTTGGAAGACAGCG	0.299													7	227	---	---	---	---	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454723	84454723	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:84454723C>A	ENST00000377084.2	-	1	1805	c.920G>T	c.(919-921)gGa>gTa	p.G307V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	307						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTTTGTACCTCCGTTTGGAGC	0.542													7	67	---	---	---	---	0	0
OR10G2	26534	broad.mit.edu	37	14	22102996	22102996	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:22102996C>A	ENST00000542433.1	-	1	100	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TGGTCTTTCCCATGTCTTTTT	0.443													8	117	---	---	---	---	0	0
TRAV2	0	broad.mit.edu	37	14	22180919	22180919	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:22180919C>A	ENST00000390424.2	+	0	201																											CTTCACTTCCCGGGATGTGCA	0.493													7	315	---	---	---	---	0	0
TRAV8-4	0	broad.mit.edu	37	14	22362923	22362923	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:22362923C>A	ENST00000390438.2	+	0	182																											CAGGAGGAACCAGAGCCCAGT	0.483											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	86	---	---	---	---	0	0
DHRS1	115817	broad.mit.edu	37	14	24765763	24765763	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:24765763C>A	ENST00000288111.7	-	4	602	c.326G>T	c.(325-327)tGg>tTg	p.W109L	DHRS1_ENST00000396813.1_Missense_Mutation_p.W109L	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	109						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		AGGGGTTTCCCAGAATGCCTT	0.552											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	116	---	---	---	---	0	0
ADCY4	196883	broad.mit.edu	37	14	24799472	24799472	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:24799472C>A	ENST00000310677.4	-	8	1073	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ADCY4_ENST00000418030.2_Silent_p.L320L|ADCY4_ENST00000396747.3_Intron|ADCY4_ENST00000554068.2_Silent_p.L320L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	320					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AACAGTCCCCCAGGATCTTGA	0.567													5	57	---	---	---	---	0	0
NYNRIN	57523	broad.mit.edu	37	14	24880587	24880587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:24880587C>A	ENST00000382554.3	+	6	2891	c.2573C>A	c.(2572-2574)tCg>tAg	p.S858*		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	858					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGCTACACTCGCTCAAGATG	0.552											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	198	---	---	---	---	0	0
SLC25A21	89874	broad.mit.edu	37	14	37149905	37149905	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:37149905C>A	ENST00000331299.5	-	10	1373	c.858G>T	c.(856-858)ctG>ctT	p.L286L	SLC25A21_ENST00000555449.1_Silent_p.L286L	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	286					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		ATTCATAAACCAGCAGCATCA	0.418													5	110	---	---	---	---	0	0
FANCM	57697	broad.mit.edu	37	14	45665409	45665409	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:45665409G>T	ENST00000267430.5	+	21	5460	c.5375G>T	c.(5374-5376)gGg>gTg	p.G1792V	FANCM_ENST00000542564.2_Missense_Mutation_p.G1766V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1792	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGCACTTCAGGGGCATCCTGT	0.433								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	117	---	---	---	---	0	0
STYX	6815	broad.mit.edu	37	14	53211583	53211583	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:53211583C>A	ENST00000354586.4	+	2	364	c.71C>A	c.(70-72)cCt>cAt	p.P24H	STYX_ENST00000442123.2_Missense_Mutation_p.P24H|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	24					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					TGGACCTACCCTATGAGACGA	0.368													5	79	---	---	---	---	0	0
SYNE2	23224	broad.mit.edu	37	14	64574302	64574302	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:64574302C>A	ENST00000357395.3	+	66	12885	c.1741C>A	c.(1741-1743)Cta>Ata	p.L581I	SYNE2_ENST00000394768.2_Missense_Mutation_p.L581I|SYNE2_ENST00000344113.4_Missense_Mutation_p.L4196I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4211I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.L830I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4196I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4196					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAATGTTCCCTAAGGCCCAA	0.453													7	202	---	---	---	---	0	0
SMOC1	64093	broad.mit.edu	37	14	70461181	70461181	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:70461181C>A	ENST00000381280.4	+	7	901	c.648C>A	c.(646-648)acC>acA	p.T216T	SMOC1_ENST00000361956.3_Silent_p.T216T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	216					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TGAACAACACCAACATAAGAA	0.428													6	180	---	---	---	---	0	0
PCNX	22990	broad.mit.edu	37	14	71455412	71455412	+	Missense_Mutation	SNP	C	C	A	rs11625690		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:71455412C>A	ENST00000304743.2	+	7	2886	c.2440C>A	c.(2440-2442)Cta>Ata	p.L814I	PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.L814I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	814			L -> I (in dbSNP:rs11625690).			integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGGATCACCCCTAAGGTATGG	0.493													7	259	---	---	---	---	0	0
MLH3	27030	broad.mit.edu	37	14	75489529	75489529	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:75489529G>T	ENST00000355774.2	-	11	4293	c.4078C>A	c.(4078-4080)Caa>Aaa	p.Q1360K	MLH3_ENST00000238662.7_Missense_Mutation_p.Q1336K|MLH3_ENST00000380968.2_Missense_Mutation_p.Q298K|MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.Q1360K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q1182K	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1360					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGCAGGCTTGGGATGCCAAC	0.517								Mismatch excision repair (MMR)					7	175	---	---	---	---	0	0
EVL	51466	broad.mit.edu	37	14	100604171	100604171	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:100604171C>A	ENST00000544450.2	+	11	1421	c.1138C>A	c.(1138-1140)Cca>Aca	p.P380T	EVL_ENST00000402714.2_Intron|EVL_ENST00000392920.3_Intron			Q9UI08	EVL_HUMAN	Enah/Vasp-like	184	EVH2 block C.|EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CACATGTCCCCCAGGGTTTGG	0.592													5	64	---	---	---	---	0	0
TECPR2	9895	broad.mit.edu	37	14	102904421	102904421	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:102904421C>A	ENST00000359520.7	+	10	2683	c.2457C>A	c.(2455-2457)tcC>tcA	p.S819S	TECPR2_ENST00000558678.1_Silent_p.S819S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	819							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TGGTGGTCTCCGAGAAGTATA	0.587											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	222	---	---	---	---	0	0
IGHV3-21	0	broad.mit.edu	37	14	106691827	106691827	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:106691827C>A	ENST00000390607.2	-	0	275																											GGATGAGACCCACTCCAGCCC	0.532													7	247	---	---	---	---	0	0
NDNL2	56160	broad.mit.edu	37	15	29561192	29561192	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:29561192G>T	ENST00000332303.4	-	1	841	c.718C>A	c.(718-720)Cac>Aac	p.H240N	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	240	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGGTCGGTGTGGGGTATCCGC	0.502													6	100	---	---	---	---	0	0
PAK6	56924	broad.mit.edu	37	15	40564554	40564554	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:40564554C>A	ENST00000455577.2	+	6	1900	c.988C>A	c.(988-990)Cag>Aag	p.Q330K	PAK6_ENST00000441369.1_Missense_Mutation_p.Q330K|PAK6_ENST00000542403.2_Missense_Mutation_p.Q330K|PAK6_ENST00000260404.4_Missense_Mutation_p.Q330K|PAK6_ENST00000560346.1_Missense_Mutation_p.Q330K|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.Q330K	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	330	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CAGCAGCCCCCAGAAGTCCCT	0.687													5	89	---	---	---	---	0	0
CHST14	113189	broad.mit.edu	37	15	40764282	40764282	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:40764282C>A	ENST00000306243.5	+	1	1123	c.870C>A	c.(868-870)gcC>gcA	p.A290A	CHST14_ENST00000559991.1_Silent_p.A265A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	290					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		AGCCTTGTGCCGTGCACTATG	0.567													5	170	---	---	---	---	0	0
SHC4	399694	broad.mit.edu	37	15	49255147	49255147	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:49255147G>T	ENST00000332408.4	-	1	494	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	22	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCAGCATCCCGGGGTGCCCGA	0.607													6	152	---	---	---	---	0	0
ATP8B4	79895	broad.mit.edu	37	15	50279700	50279700	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:50279700C>A	ENST00000284509.6	-	10	777	c.636G>T	c.(634-636)atG>atT	p.M212I	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.M212I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	212					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAAGGATTCCCATGAATTTAT	0.393													5	87	---	---	---	---	0	0
UNC13C	440279	broad.mit.edu	37	15	54586236	54586236	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:54586236G>T	ENST00000545554.1	+	10	3962	c.3962G>T	c.(3961-3963)gGa>gTa	p.G1321V	UNC13C_ENST00000260323.11_Missense_Mutation_p.G1321V|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1321					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCTTGAGTGGAGAAATGGAT	0.353													7	215	---	---	---	---	0	0
CILP	8483	broad.mit.edu	37	15	65502087	65502087	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:65502087C>A	ENST00000261883.4	-	2	173	c.7G>T	c.(7-9)Ggg>Tgg	p.G3W		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	3					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.G3R(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCCTTGGTCCCCACCATCTTT	0.552													5	57	---	---	---	---	0	0
SNUPN	10073	broad.mit.edu	37	15	75899625	75899625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:75899625C>A	ENST00000564644.1	-	7	1110	c.532G>T	c.(532-534)Gag>Tag	p.E178*	SNUPN_ENST00000308588.5_Nonsense_Mutation_p.E178*|SNUPN_ENST00000567134.1_Nonsense_Mutation_p.E178*|SNUPN_ENST00000371091.5_Nonsense_Mutation_p.E220*|SNUPN_ENST00000564675.1_Nonsense_Mutation_p.E178*			O95149	SPN1_HUMAN	snurportin 1	178					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TGGTTTACCTCATTGTAAATG	0.498													6	91	---	---	---	---	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78346441	78346441	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:78346441C>A	ENST00000409931.3	-	2	520	c.449G>T	c.(448-450)tGg>tTg	p.W150L	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.W150L			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	150						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CCTGCTGTCCCACTTGACCAT	0.488													6	139	---	---	---	---	0	0
MEX3B	84206	broad.mit.edu	37	15	82336242	82336242	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:82336242G>T	ENST00000329713.4	-	2	1404	c.969C>A	c.(967-969)ccC>ccA	p.P323P	MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	323					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						AGCTCAGGGCGGGGCTAGGGG	0.637													5	104	---	---	---	---	0	0
MCTP2	55784	broad.mit.edu	37	15	94928745	94928745	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:94928745C>A	ENST00000357742.4	+	13	1779	c.1779C>A	c.(1777-1779)ccC>ccA	p.P593P	MCTP2_ENST00000557742.1_Silent_p.P181P|MCTP2_ENST00000451018.3_Silent_p.P593P|MCTP2_ENST00000331706.4_Silent_p.P181P	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	593					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTGCCATTCCCTTGCTGTCCG	0.363													6	154	---	---	---	---	0	0
RHBDL1	9028	broad.mit.edu	37	16	726866	726866	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:726866C>A	ENST00000219551.2	+	2	618	c.591C>A	c.(589-591)ccC>ccA	p.P197P	RHBDL1_ENST00000352681.3_Silent_p.P132P			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	197					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCCCACCCCCCGTGTTCATGG	0.667													5	68	---	---	---	---	0	0
MLST8	64223	broad.mit.edu	37	16	2256121	2256121	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:2256121C>A	ENST00000569417.1	+	2	389	c.35C>A	c.(34-36)cCg>cAg	p.P12Q	MLST8_ENST00000565250.1_Missense_Mutation_p.P12Q|MLST8_ENST00000301725.7_Missense_Mutation_p.P31Q|MLST8_ENST00000397124.1_Missense_Mutation_p.P12Q|MLST8_ENST00000382450.4_Missense_Mutation_p.P12Q|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301724.10_Missense_Mutation_p.P12Q|MLST8_ENST00000564088.1_Missense_Mutation_p.P12Q	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	12					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						GGCAGTGACCCGGTCATCCTG	0.652													5	129	---	---	---	---	0	0
ANKS3	124401	broad.mit.edu	37	16	4750963	4750963	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:4750963G>T	ENST00000450067.2	-	7	984	c.674C>A	c.(673-675)cCg>cAg	p.P225Q	ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000304283.4_Intron			Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	0										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TTTCACAAGCGGTCTTACCTG	0.572													5	303	---	---	---	---	0	0
GP2	2813	broad.mit.edu	37	16	20335306	20335306	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:20335306C>A	ENST00000302555.5	-	3	516	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	GP2_ENST00000381362.4_Missense_Mutation_p.G123W|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	123						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGTGGGTCCCATTCAGCCAC	0.592													5	92	---	---	---	---	0	0
PAGR1	79447	broad.mit.edu	37	16	29830900	29830900	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:29830900G>T	ENST00000320330.6	+	3	1152	c.590G>T	c.(589-591)cGg>cTg	p.R197L	AC009133.12_ENST00000569809.1_RNA|AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000564980.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.R197L					PAXIP1 associated glutamate-rich protein 1																		AGCCAGAAACGGGAGGCCCGC	0.577													6	278	---	---	---	---	0	0
HIRIP3	8479	broad.mit.edu	37	16	30006001	30006001	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:30006001C>A	ENST00000279392.3	-	4	1295	c.465G>T	c.(463-465)agG>agT	p.R155S	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	155	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTCCTCTCCCCTCTGTGCGG	0.567													11	375	---	---	---	---	0	0
ZNF689	115509	broad.mit.edu	37	16	30620869	30620869	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:30620869G>T	ENST00000287461.3	-	2	633	c.296C>A	c.(295-297)cCg>cAg	p.P99Q	ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	99	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TAGCCCTCTCGGGTACTCCTG	0.557													4	85	---	---	---	---	0	0
GPR56	0	broad.mit.edu	37	16	57691386	57691386	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:57691386C>A	ENST00000562631.1	+	10	1801	c.1269C>A	c.(1267-1269)gcC>gcA	p.A423A	GPR56_ENST00000388812.4_Silent_p.A423A|GPR56_ENST00000540164.2_Silent_p.A423A|GPR56_ENST00000562558.1_Silent_p.A423A|GPR56_ENST00000568909.1_Silent_p.A423A|GPR56_ENST00000379696.3_Silent_p.A423A|GPR56_ENST00000379694.4_Silent_p.A253A|GPR56_ENST00000456916.1_Silent_p.A423A|GPR56_ENST00000544297.1_Silent_p.A248A|GPR56_ENST00000568908.1_Silent_p.A423A|GPR56_ENST00000538815.1_Silent_p.A423A|GPR56_ENST00000388813.5_Silent_p.A423A|GPR56_ENST00000567835.1_Silent_p.A423A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	423					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCACCATTGCCGCCTACCTCT	0.647													5	222	---	---	---	---	0	0
GPR97	222487	broad.mit.edu	37	16	57722301	57722301	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:57722301C>A	ENST00000333493.4	+	12	1739	c.1578C>A	c.(1576-1578)ctC>ctA	p.L526L	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.L406L|GPR97_ENST00000327655.6_Intron	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	526					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTTTACCTCCCAAGTCAGA	0.572													7	179	---	---	---	---	0	0
TPPP3	51673	broad.mit.edu	37	16	67424535	67424535	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:67424535C>A	ENST00000564104.1	-	2	1030	c.189G>T	c.(187-189)aaG>aaT	p.K63N	TPPP3_ENST00000290942.5_Splice_Site_p.K63N|TPPP3_ENST00000562206.1_Splice_Site_p.K63N|TPPP3_ENST00000393957.2_Splice_Site_p.K63N			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	63					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CAGACTTCCCCCTGACAGGCA	0.532													7	167	---	---	---	---	0	0
DHX38	9785	broad.mit.edu	37	16	72130760	72130760	+	Silent	SNP	G	G	T	rs147413193		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72130760G>T	ENST00000268482.3	+	3	872	c.363G>T	c.(361-363)ccG>ccT	p.P121P	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	121					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.P121P(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CATCCCATCCGGGTGGTGTGA	0.537													9	279	---	---	---	---	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184682	72184682	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72184682C>A	ENST00000537465.1	-	5	619	c.461G>T	c.(460-462)gGg>gTg	p.G154V	PMFBP1_ENST00000237353.10_Missense_Mutation_p.G154V|PMFBP1_ENST00000355636.6_Missense_Mutation_p.G9V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	154										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGCTTCTCCCCTGTGTTCTC	0.493													7	117	---	---	---	---	0	0
ZFHX3	463	broad.mit.edu	37	16	72829959	72829959	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72829959G>T	ENST00000268489.5	-	9	7294	c.6622C>A	c.(6622-6624)Cct>Act	p.P2208T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1294T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2208					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGTTGTAAGGGGAGTCCTTG	0.527													7	127	---	---	---	---	0	0
PKD1L2	114780	broad.mit.edu	37	16	81161416	81161416	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:81161416C>A	ENST00000533478.1	-	0	4354				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCCTCCTCCCCGGTACACAG	0.527													5	46	---	---	---	---	0	0
IRF8	3394	broad.mit.edu	37	16	85952112	85952112	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:85952112C>A	ENST00000268638.5	+	7	1113	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	IRF8_ENST00000562492.1_Missense_Mutation_p.L27M	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	231					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCGCCTGTCCCTGAGCCAGCC	0.687													5	88	---	---	---	---	0	0
MNT	4335	broad.mit.edu	37	17	2290812	2290812	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:2290812G>T	ENST00000174618.4	-	6	1537	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M	MNT_ENST00000575374.1_5'UTR	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	378					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		tgtggaggcagaggcgcaggg	0.711													6	119	---	---	---	---	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2908722	2908722	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:2908722C>A	ENST00000254695.8	+	15	1350	c.1260C>A	c.(1258-1260)ccC>ccA	p.P420P	RAP1GAP2_ENST00000540393.2_Silent_p.P401P|RAP1GAP2_ENST00000366401.4_Silent_p.P405P|RAP1GAP2_ENST00000542807.1_Silent_p.P420P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	420	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAGTCCCCCCGTTTTCCAGA	0.562													5	206	---	---	---	---	0	0
ALOX15	246	broad.mit.edu	37	17	4542227	4542227	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:4542227C>A	ENST00000570836.1	-	5	556	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	ALOX15_ENST00000574640.1_Missense_Mutation_p.G115W|ALOX15_ENST00000293761.3_Missense_Mutation_p.G154W|ALOX15_ENST00000545513.1_Missense_Mutation_p.G176W			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	154	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AGTTTGGCCCCAGCCATATTC	0.537													6	135	---	---	---	---	0	0
ACAP1	9744	broad.mit.edu	37	17	7240646	7240646	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:7240646G>T	ENST00000158762.3	+	2	275	c.69G>T	c.(67-69)ctG>ctT	p.L23L		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	23	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTATTGAGCTGGTGGAAGCCG	0.582													6	130	---	---	---	---	0	0
MYH1	4619	broad.mit.edu	37	17	10415429	10415429	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:10415429C>A	ENST00000226207.5	-	13	1322	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	410	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TACTCATTGCCGACCTTGACC	0.463													7	282	---	---	---	---	0	0
SSH2	85464	broad.mit.edu	37	17	27962986	27962986	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:27962986C>A	ENST00000269033.3	-	14	2332	c.2181G>T	c.(2179-2181)aaG>aaT	p.K727N	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Splice_Site_p.K754N	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	727					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGTTTTTACCTTTGACTGTT	0.393													8	209	---	---	---	---	0	0
SLFN12	55106	broad.mit.edu	37	17	33749994	33749994	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:33749994C>A	ENST00000394562.1	-	4	577	c.54G>T	c.(52-54)gtG>gtT	p.V18V	SLFN12_ENST00000304905.5_Silent_p.V18V|SLFN12_ENST00000452764.3_Silent_p.V18V			Q8IYM2	SLN12_HUMAN	schlafen family member 12	18							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGACTCTTCCCACATCTAGAA	0.403													6	177	---	---	---	---	0	0
SYNRG	11276	broad.mit.edu	37	17	35930983	35930983	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:35930983C>A	ENST00000339208.6	-	10	1240	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	SYNRG_ENST00000585472.1_Splice_Site_p.R288M|SYNRG_ENST00000345615.4_Splice_Site_p.R289M|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Splice_Site_p.R289M|SYNRG_ENST00000394378.2_Splice_Site_p.R289M|SYNRG_ENST00000346661.4_Splice_Site_p.R367M|SYNRG_ENST00000591288.1_Intron	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	367	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAACGCCCCTCTACAAATG	0.433													6	162	---	---	---	---	0	0
CDK12	51755	broad.mit.edu	37	17	37627429	37627429	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:37627429C>A	ENST00000447079.4	+	2	1377	c.1344C>A	c.(1342-1344)ccC>ccA	p.P448P	CDK12_ENST00000430627.2_Silent_p.P448P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	448					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAAGTTACCCAGAAGTGTAA	0.388			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			5	95	---	---	---	---	0	0
CASC3	22794	broad.mit.edu	37	17	38325650	38325650	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:38325650C>A	ENST00000264645.7	+	12	2265	c.2039C>A	c.(2038-2040)cCa>cAa	p.P680Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	680	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AAGCCCTCCCCACCCCGGAGG	0.582													6	101	---	---	---	---	0	0
HAP1	9001	broad.mit.edu	37	17	39881202	39881202	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:39881202G>T	ENST00000393939.2	-	10	1545	c.1536C>A	c.(1534-1536)acC>acA	p.T512T	HAP1_ENST00000310778.5_Silent_p.T589T|HAP1_ENST00000347901.4_Silent_p.T537T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.T520T			P54257	HAP1_HUMAN	huntingtin-associated protein 1	589	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	p.T537T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCCAGCCCTCGGTCTCCTCTG	0.652													8	358	---	---	---	---	0	0
STAT5A	6776	broad.mit.edu	37	17	40453403	40453403	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:40453403C>A	ENST00000345506.4	+	10	1742	c.1100C>A	c.(1099-1101)cCc>cAc	p.P367H	STAT5A_ENST00000590949.1_Missense_Mutation_p.P367H|STAT5A_ENST00000452307.2_Missense_Mutation_p.P367H|STAT5A_ENST00000588868.1_Missense_Mutation_p.P367H|STAT5A_ENST00000546010.2_Missense_Mutation_p.P337H	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	367					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		ATGAATCCCCCCCAGGTGAAG	0.567													6	83	---	---	---	---	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40647096	40647096	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:40647096G>T	ENST00000343619.4	+	13	1482	c.1359G>T	c.(1357-1359)atG>atT	p.M453I	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.M410I|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.M99I|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.M410I|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.M460I	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	453					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTTTATTGATGGGTGTGTTCT	0.413													9	214	---	---	---	---	0	0
EZH1	2145	broad.mit.edu	37	17	40864402	40864402	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:40864402C>A	ENST00000428826.2	-	12	1427	c.1306G>T	c.(1306-1308)Ggg>Tgg	p.G436W	EZH1_ENST00000415827.2_Missense_Mutation_p.G427W|EZH1_ENST00000590078.1_Missense_Mutation_p.G366W|EZH1_ENST00000592743.1_Missense_Mutation_p.G436W|EZH1_ENST00000435174.1_Missense_Mutation_p.G297W|EZH1_ENST00000585893.1_Missense_Mutation_p.G396W			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	436					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TCTTCAGCCCCAGTCCATTCC	0.537													6	136	---	---	---	---	0	0
DBF4B	80174	broad.mit.edu	37	17	42828262	42828262	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:42828262C>A	ENST00000315005.3	+	14	1627	c.1489C>A	c.(1489-1491)Cct>Act	p.P497T	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	497					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACTCCTCTTCCCTGAAGCCAG	0.597													5	60	---	---	---	---	0	0
RP11-798G7.6	0	broad.mit.edu	37	17	43625833	43625833	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:43625833C>A	ENST00000586348.1	+	0	45																											GTCCAACCTCCGTAGTGGGTT	0.507													7	388	---	---	---	---	0	0
KANSL1	284058	broad.mit.edu	37	17	44159892	44159892	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:44159892C>A	ENST00000262419.6	-	4	1918	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	KANSL1_ENST00000575318.1_Missense_Mutation_p.G483V|KANSL1_ENST00000572904.1_Missense_Mutation_p.G483V|KANSL1_ENST00000432791.1_Missense_Mutation_p.G483V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.G483V	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	483						MLL1 complex	protein binding										AGGTACCTCCCCAAGAACTAT	0.388													5	36	---	---	---	---	0	0
HOXB3	3213	broad.mit.edu	37	17	46629480	46629480	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:46629480G>T	ENST00000470495.1	-	1	1804	c.357C>A	c.(355-357)ccC>ccA	p.P119P	HOXB3_ENST00000311626.4_Silent_p.P119P|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Silent_p.P119P|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000472863.1_Silent_p.P46P|HOXB3_ENST00000489475.1_Silent_p.P46P|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000498678.1_Silent_p.P119P			P14651	HXB3_HUMAN	homeobox B3	119					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGTTGGTGCCGGGACCGCACT	0.602													9	303	---	---	---	---	0	0
TEX14	56155	broad.mit.edu	37	17	56688674	56688674	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:56688674C>A	ENST00000389934.3	-	10	1149	c.1032G>T	c.(1030-1032)atG>atT	p.M344I	TEX14_ENST00000240361.8_Missense_Mutation_p.M350I|TEX14_ENST00000349033.5_Missense_Mutation_p.M344I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	350	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAATCACCTCCATGTGCAGCA	0.507													6	84	---	---	---	---	0	0
ACE	1636	broad.mit.edu	37	17	61562656	61562656	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:61562656C>A	ENST00000577647.1	+	2	304	c.259C>A	c.(259-261)Cag>Aag	p.Q87K	ACE_ENST00000490216.2_Missense_Mutation_p.Q87K|ACE_ENST00000290866.4_Missense_Mutation_p.Q661K|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.Q661K|ACE_ENST00000290863.6_Missense_Mutation_p.Q87K|ACE_ENST00000413513.3_Missense_Mutation_p.Q87K			P12821	ACE_HUMAN	angiotensin I converting enzyme	661	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCGGACATCCCAGGTGGTGTG	0.567													5	54	---	---	---	---	0	0
SCN4A	6329	broad.mit.edu	37	17	62022837	62022837	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:62022837G>T	ENST00000435607.1	-	19	3679	c.3603C>A	c.(3601-3603)tcC>tcA	p.S1201S	SCN4A_ENST00000578147.1_Silent_p.S1201S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1201					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGTTGACCTCGGAGATGTCGA	0.537													6	316	---	---	---	---	0	0
POLG2	11232	broad.mit.edu	37	17	62492936	62492936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:62492936C>A	ENST00000539111.2	-	1	218	c.151G>T	c.(151-153)Gag>Tag	p.E51*		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	51					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCGTTCCCCTCGAGCTCCGCG	0.607													5	160	---	---	---	---	0	0
SOX9	6662	broad.mit.edu	37	17	70119738	70119738	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:70119738C>A	ENST00000245479.2	+	3	1112	c.740C>A	c.(739-741)cCg>cAg	p.P247Q		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	247					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GACGTGCAGCCGGGCAAGGCT	0.632													5	190	---	---	---	---	0	0
RECQL5	9400	broad.mit.edu	37	17	73658781	73658781	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:73658781C>A	ENST00000420326.2	-	4	708	c.549G>T	c.(547-549)ctG>ctT	p.L183L	RECQL5_ENST00000423245.2_Silent_p.L156L|RECQL5_ENST00000584999.1_Silent_p.L183L|RECQL5_ENST00000317905.5_Silent_p.L183L|RECQL5_ENST00000340830.5_Silent_p.L183L	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	183	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGCATGTCCCAGGCGGGAGC	0.577								Other identified genes with known or suspected DNA repair function					8	244	---	---	---	---	0	0
RNF213	57674	broad.mit.edu	37	17	78354681	78354681	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:78354681G>T	ENST00000582970.1	+	56	13834	c.13691G>T	c.(13690-13692)cGg>cTg	p.R4564L	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4613L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2637L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AACCCGCAGCGGAGAGACGTG	0.607													5	263	---	---	---	---	0	0
ALYREF	10189	broad.mit.edu	37	17	79848574	79848574	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:79848574G>T	ENST00000331204.4	-	2	386	c.360C>A	c.(358-360)gcC>gcA	p.A120A	ALYREF_ENST00000505490.2_Silent_p.A127A|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	120	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										CCTGAATATCGGCGTCTGAGA	0.592													5	91	---	---	---	---	0	0
MC5R	4161	broad.mit.edu	37	18	13826433	13826433	+	Silent	SNP	C	C	A	rs142471410		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:13826433C>A	ENST00000324750.3	+	1	891	c.669C>A	c.(667-669)ccC>ccA	p.P223P		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	223				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.P223P(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGGCTCTGCCCGGGGCCAGCT	0.622													6	274	---	---	---	---	0	0
DCC	1630	broad.mit.edu	37	18	50848421	50848421	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:50848421G>T	ENST00000442544.2	+	14	2674	c.2058G>T	c.(2056-2058)ctG>ctT	p.L686L	DCC_ENST00000581580.1_Silent_p.L341L|DCC_ENST00000412726.1_Silent_p.L534L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	686	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCATAGGACTGGAGAAAGGAA	0.438													5	99	---	---	---	---	0	0
WDR7	23335	broad.mit.edu	37	18	54591261	54591261	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:54591261G>T	ENST00000254442.3	+	22	3846	c.3635G>T	c.(3634-3636)tGg>tTg	p.W1212L	WDR7_ENST00000357574.3_Missense_Mutation_p.W1179L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1212										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTCACTGTTTGGGAGCCTTAC	0.502													6	165	---	---	---	---	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595295	7595295	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:7595295C>A	ENST00000264079.6	+	12	1608	c.1483C>A	c.(1483-1485)Cag>Aag	p.Q495K		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	495					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTCTTCTCCCAGCTCTACCT	0.587													8	349	---	---	---	---	0	0
FCER2	2208	broad.mit.edu	37	19	7764643	7764643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:7764643C>A	ENST00000346664.5	-	2	216	c.4G>T	c.(4-6)Gag>Tag	p.E2*	FCER2_ENST00000597921.1_Nonsense_Mutation_p.E2*	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	2					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TGACCTTCCTCCATGGCGGTC	0.542													6	73	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9050229	9050229	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:9050229C>A	ENST00000397910.4	-	5	31605	c.31402G>T	c.(31402-31404)Ggg>Tgg	p.G10468W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10470	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTTTGTCCCTCCTGTGTGT	0.468													7	305	---	---	---	---	0	0
ICAM3	3385	broad.mit.edu	37	19	10445903	10445903	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:10445903C>A	ENST00000589261.1	-	4	1077	c.545G>T	c.(544-546)gGg>gTg	p.G182V	ICAM3_ENST00000160262.5_Missense_Mutation_p.G259V			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	259	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CATCTGGTCCCCCAGCGCCAG	0.662													7	170	---	---	---	---	0	0
ZNF69	7620	broad.mit.edu	37	19	12015573	12015573	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:12015573C>A	ENST00000429654.2	+	4	501	c.361C>A	c.(361-363)Cct>Act	p.P121T	ZNF69_ENST00000340180.5_Missense_Mutation_p.P107T			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	121						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		GAAAGCTTCTCCTGAAATAAA	0.398													6	193	---	---	---	---	0	0
C19orf57	79173	broad.mit.edu	37	19	14006305	14006305	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:14006305T>G	ENST00000454313.1	-	3	144	c.86A>C	c.(85-87)tAt>tCt	p.Y29S	C19orf57_ENST00000346736.2_Missense_Mutation_p.Y29S|C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000586783.1_Missense_Mutation_p.Y29S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	29					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGGGTCCCCATAGAAGTCTCC	0.547													8	232	---	---	---	---	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512026	15512026	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:15512026C>A	ENST00000397410.5	-	5	881	c.751G>T	c.(751-753)Ggg>Tgg	p.G251W	AKAP8L_ENST00000595465.2_Missense_Mutation_p.G190W|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTGCCAAACCCGAAACCAAAG	0.627													8	298	---	---	---	---	0	0
KLHL26	55295	broad.mit.edu	37	19	18775156	18775156	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:18775156C>A	ENST00000300976.4	+	2	259	c.169C>A	c.(169-171)Cgc>Agc	p.R57S	KLHL26_ENST00000599006.1_Missense_Mutation_p.R57S|KLHL26_ENST00000595182.1_Missense_Mutation_p.R57S|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	57										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCCTCCGCGCTCAGGG	0.632													5	187	---	---	---	---	0	0
GMIP	51291	broad.mit.edu	37	19	19741286	19741286	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:19741286C>A	ENST00000203556.4	-	20	2670	c.2533G>T	c.(2533-2535)Ggg>Tgg	p.G845W	GMIP_ENST00000587238.1_Missense_Mutation_p.G819W|GMIP_ENST00000445806.2_Missense_Mutation_p.G816W	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	845					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACCTTCCCCTCCCCCATCT	0.537													7	115	---	---	---	---	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769525	31769525	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:31769525C>A	ENST00000240587.4	-	2	1501	c.1174G>T	c.(1174-1176)Ggg>Tgg	p.G392W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	392					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCGAGCTCCCACACTCCATG	0.547													6	187	---	---	---	---	0	0
SLC7A10	56301	broad.mit.edu	37	19	33706825	33706825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:33706825G>T	ENST00000253188.4	-	2	352	c.206C>A	c.(205-207)tCa>tAa	p.S69*		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CACGGAGCCTGAGTGCTCCAG	0.667													4	30	---	---	---	---	0	0
GPI	2821	broad.mit.edu	37	19	34884859	34884859	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:34884859C>A	ENST00000415930.3	+	12	1153	c.983C>A	c.(982-984)cCc>cAc	p.P328H	GPI_ENST00000586425.1_Missense_Mutation_p.P317H|GPI_ENST00000356487.5_Missense_Mutation_p.P317H	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	317					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AAGAACGCCCCCGTCTTGCTG	0.617													6	151	---	---	---	---	0	0
MAG	4099	broad.mit.edu	37	19	35786796	35786796	+	Silent	SNP	C	C	A	rs11550209		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:35786796C>A	ENST00000361922.4	+	4	477	c.327C>A	c.(325-327)ccC>ccA	p.P109P	MAG_ENST00000597035.1_Intron|MAG_ENST00000537831.2_Silent_p.P84P|MAG_ENST00000392213.3_Silent_p.P109P	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	109	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACGTCAGCCCCGAGCTGGGCG	0.647													5	188	---	---	---	---	0	0
ATP4A	495	broad.mit.edu	37	19	36046700	36046700	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:36046700C>A	ENST00000262623.3	-	13	1912	c.1884G>T	c.(1882-1884)acG>acT	p.T628T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	628					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGTGGTCACCCGTTACCATGA	0.602													6	206	---	---	---	---	0	0
FAM98C	147965	broad.mit.edu	37	19	38895577	38895577	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:38895577C>A	ENST00000252530.5	+	4	398	c.379C>A	c.(379-381)Cgc>Agc	p.R127S	FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.R127S|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	127										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAAGCCACCCGCCTCCTGTG	0.572													7	282	---	---	---	---	0	0
ACTN4	81	broad.mit.edu	37	19	39219698	39219698	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:39219698C>A	ENST00000252699.2	+	20	2557	c.2481C>A	c.(2479-2481)acC>acA	p.T827T	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.T608T|ACTN4_ENST00000424234.2_Silent_p.T437T	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	827	EF-hand 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCTTGTGACCTTCCAAGCCT	0.597													6	153	---	---	---	---	0	0
SAMD4B	55095	broad.mit.edu	37	19	39870679	39870679	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:39870679C>A	ENST00000314471.6	+	12	2639	c.1604C>A	c.(1603-1605)cCg>cAg	p.P535Q	SAMD4B_ENST00000598913.1_Missense_Mutation_p.P535Q|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	535							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGGACATTCCCGCGCAAAGCC	0.577													4	41	---	---	---	---	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096743	41096743	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:41096743C>A	ENST00000291842.5	+	17	1925	c.1876C>A	c.(1876-1878)Cgc>Agc	p.R626S	SHKBP1_ENST00000600733.1_Missense_Mutation_p.R601S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	626						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCTCACCCCGCATCTCCCT	0.647													4	71	---	---	---	---	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222166	42222166	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:42222166G>T	ENST00000221992.6	+	6	1471	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	CEACAM5_ENST00000405816.1_Missense_Mutation_p.G453W|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G452W|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	453	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GCTGATTGATGGGAACATCCA	0.517													5	89	---	---	---	---	0	0
CEACAM1	634	broad.mit.edu	37	19	43031277	43031277	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43031277G>T	ENST00000161559.6	-	2	474	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000351134.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000403461.1_Missense_Mutation_p.Q114K|CEACAM1_ENST00000352591.5_Missense_Mutation_p.Q114K|CEACAM1_ENST00000599389.1_Missense_Mutation_p.Q114K|CEACAM1_ENST00000403444.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000308072.4_Missense_Mutation_p.Q74K	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	114	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTGTCATTCTGGGTGACGTTC	0.473													9	412	---	---	---	---	0	0
PSG3	5671	broad.mit.edu	37	19	43243013	43243013	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43243013C>A	ENST00000327495.5	-	2	477	c.293G>T	c.(292-294)cGa>cTa	p.R98L	PSG3_ENST00000490592.1_5'UTR|PSG3_ENST00000595140.1_Missense_Mutation_p.R98L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	98	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TACTGTTTCTCGTCCACTGTA	0.448													8	567	---	---	---	---	0	0
PSG8	0	broad.mit.edu	37	19	43268158	43268158	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43268158G>T	ENST00000404209.4	-	2	436	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.Q114K|PSG8_ENST00000401467.2_Missense_Mutation_p.Q114K	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	114	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCGTCTTCCTGGGTGACATTC	0.418													8	479	---	---	---	---	0	0
PSG5	5673	broad.mit.edu	37	19	43680257	43680257	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43680257G>T	ENST00000404580.1	-	3	562	c.474C>A	c.(472-474)ccC>ccA	p.P158P	PSG5_ENST00000407356.1_Silent_p.P158P|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Silent_p.P158P|PSG5_ENST00000366175.3_Silent_p.P158P|PSG5_ENST00000599812.1_Silent_p.P251P			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	158	Ig-like C2-type 1.				female pregnancy	extracellular region		p.P158P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TATTCTCCCTGGGTTTTGAGT	0.493													10	348	---	---	---	---	0	0
PPFIA3	8541	broad.mit.edu	37	19	49646129	49646129	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:49646129G>T	ENST00000334186.4	+	21	2962	c.2613G>T	c.(2611-2613)atG>atT	p.M871I	PPFIA3_ENST00000602351.1_Missense_Mutation_p.M871I	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	871	SAM 1.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGCCATCATGGCCAACCTGT	0.642													5	96	---	---	---	---	0	0
KLK14	43847	broad.mit.edu	37	19	51585865	51585865	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51585865G>T	ENST00000391802.1	-	3	273	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	KLK14_ENST00000156499.2_Missense_Mutation_p.L19I	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	19					epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GTCAGCAGGAGGAACATTTTA	0.537													5	84	---	---	---	---	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960476	51960476	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51960476C>A	ENST00000321424.3	-	3	809	c.743G>T	c.(742-744)tGg>tTg	p.W248L	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W155L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	248	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGTCAAGTTCCAAGGAGGGTC	0.562													6	89	---	---	---	---	0	0
ZNF816	125893	broad.mit.edu	37	19	53456131	53456131	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:53456131C>A	ENST00000357666.4	-	4	364		c.e4-1		ZNF816_ENST00000535506.1_Splice_Site|ZNF321P_ENST00000391777.3_Splice_Site|ZNF816_ENST00000391786.2_Intron|ZNF816_ENST00000438970.2_Splice_Site|ZNF816_ENST00000270457.4_Splice_Site|ZNF816_ENST00000434371.2_Splice_Site|ZNF816_ENST00000444460.2_Splice_Site	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCAAGCGTCCCTAAAATAAAA	0.413													6	139	---	---	---	---	0	0
LILRA2	0	broad.mit.edu	37	19	55086232	55086232	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:55086232C>A	ENST00000251377.3	+	5	520	c.387C>A	c.(385-387)ccC>ccA	p.P129P	LILRA2_ENST00000391738.3_Silent_p.P129P|LILRA2_ENST00000251376.3_Silent_p.P129P|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.P117P|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CAGCTCTGCCCAGCCCTGTGG	0.562													6	165	---	---	---	---	0	0
NLRP2	55655	broad.mit.edu	37	19	55481486	55481486	+	Missense_Mutation	SNP	C	C	A	rs140778052	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:55481486C>A	ENST00000543010.1	+	2	246	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	NLRP2_ENST00000391721.4_Missense_Mutation_p.L35M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L35M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L35M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L35M|NLRP2_ENST00000427260.2_Missense_Mutation_p.L35M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L35M|NLRP2_ENST00000538819.1_Missense_Mutation_p.L35M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	35	DAPIN.			L -> P (in Ref. 1; AAG15253).	apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACCTTCTCCCTGGCACACGA	0.552													6	100	---	---	---	---	0	0
NLRP4	147945	broad.mit.edu	37	19	56363700	56363700	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:56363700G>T	ENST00000301295.6	+	2	676	c.254G>T	c.(253-255)tGc>tTc	p.C85F	NLRP4_ENST00000346986.5_Missense_Mutation_p.C85F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	85	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGGATCTCTGCATGAAGGTC	0.443													27	60	---	---	---	---	0	0
ZNF274	10782	broad.mit.edu	37	19	58723010	58723010	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:58723010C>A	ENST00000326804.4	+	8	1393	c.934C>A	c.(934-936)Cgc>Agc	p.R312S	ZNF274_ENST00000345813.3_Missense_Mutation_p.R280S|ZNF274_ENST00000424679.2_Missense_Mutation_p.R207S|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	313	KRAB 2.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.R280S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GACCGAGTACCGCGATGTGAT	0.617													5	135	---	---	---	---	0	0
NSFL1C	55968	broad.mit.edu	37	20	1435726	1435726	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:1435726G>T	ENST00000216879.4	-	4	1197	c.330C>A	c.(328-330)ccC>ccA	p.P110P	NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000350991.4_Silent_p.P112P|NSFL1C_ENST00000476071.1_Silent_p.P112P|NSFL1C_ENST00000353088.2_Silent_p.P110P|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	110						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TTTTCTTCCTGGGAGGGCCAA	0.488													8	343	---	---	---	---	0	0
KIF16B	55614	broad.mit.edu	37	20	16410600	16410600	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:16410600C>A	ENST00000378003.2	-	0	1487				KIF16B_ENST00000354981.2_Missense_Mutation_p.G444W|KIF16B_ENST00000408042.1_Missense_Mutation_p.G444W|KIF16B_ENST00000355755.3_Missense_Mutation_p.G444W			Q96L93	KI16B_HUMAN	kinesin family member 16B						cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACTCCAATCCCTTCTTTCCTG	0.363													6	79	---	---	---	---	0	0
NAA20	51126	broad.mit.edu	37	20	20006388	20006388	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:20006388C>A	ENST00000398602.2	+	3	745	c.110C>A	c.(109-111)cCt>cAt	p.P37H	NAA20_ENST00000310450.4_Missense_Mutation_p.P49H|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Missense_Mutation_p.P49H	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	49	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GCAGAGGCACCTGGTGGAGAA	0.383													6	194	---	---	---	---	0	0
TGIF2	60436	broad.mit.edu	37	20	35219499	35219499	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:35219499C>A	ENST00000373874.2	+	3	578	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.L127M|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	127	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGTGCTCTCCCTGTCTGTGTG	0.672													6	120	---	---	---	---	0	0
DHX35	60625	broad.mit.edu	37	20	37634887	37634887	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:37634887C>A	ENST00000252011.3	+	12	1143	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	DHX35_ENST00000373325.2_Silent_p.P370P|DHX35_ENST00000373323.4_Silent_p.P339P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	370	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CCTACAATCCCAGGACAGCTA	0.517													7	329	---	---	---	---	0	0
CHD6	0	broad.mit.edu	37	20	40161771	40161771	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:40161771G>T	ENST00000373233.3	-	3	649	c.472C>A	c.(472-474)Cgg>Agg	p.R158R	CHD6_ENST00000309279.7_Silent_p.R158R|CHD6_ENST00000373222.3_Silent_p.R193R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	158	Lys-rich.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGGCCTCCCGGGGCTTCCGT	0.587													7	260	---	---	---	---	0	0
HNF4A	3172	broad.mit.edu	37	20	43034706	43034706	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:43034706C>A	ENST00000316099.4	+	2	213	c.124C>A	c.(124-126)Cca>Aca	p.P42T	HNF4A_ENST00000415691.2_Missense_Mutation_p.P42T|HNF4A_ENST00000443598.2_Missense_Mutation_p.P42T|HNF4A_ENST00000457232.1_Missense_Mutation_p.P20T|HNF4A_ENST00000316673.4_Missense_Mutation_p.P20T|HNF4A_ENST00000609795.1_Missense_Mutation_p.P20T	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGACACGTCCCCATCAGAAGG	0.632													10	251	---	---	---	---	0	0
ELMO2	63916	broad.mit.edu	37	20	45012124	45012124	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:45012124C>A	ENST00000372176.1	-	10	891	c.423G>T	c.(421-423)caG>caT	p.Q141H	ELMO2_ENST00000290246.6_Missense_Mutation_p.Q229H|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q229H|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q46H|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q227H|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q229H			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	229					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCTGAATCTCCTGGTTGGAGC	0.428													8	174	---	---	---	---	0	0
DIDO1	11083	broad.mit.edu	37	20	61511007	61511007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:61511007C>A	ENST00000266070.4	-	16	6626	c.6301G>T	c.(6301-6303)Gag>Tag	p.E2101*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E2101*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2101					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGGGCTCCTCCAGCGGCTTC	0.677													8	258	---	---	---	---	0	0
DIDO1	11083	broad.mit.edu	37	20	61513279	61513279	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:61513279G>T	ENST00000266070.4	-	16	4354	c.4029C>A	c.(4027-4029)ccC>ccA	p.P1343P	DIDO1_ENST00000395343.1_Silent_p.P1343P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1343					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCTCCTGGGGGAGACCTG	0.582													7	168	---	---	---	---	0	0
C21orf62	56245	broad.mit.edu	37	21	34166417	34166417	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:34166417G>T	ENST00000536776.1	-	2	456	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	C21orf62_ENST00000479548.1_Missense_Mutation_p.L106M|C21orf49_ENST00000477513.1_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.L106M|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.L106M	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	106										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GTGCTGCACAGGGAAAGCTTC	0.562													5	62	---	---	---	---	0	0
BRWD1	54014	broad.mit.edu	37	21	40568278	40568278	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:40568278C>A	ENST00000342449.3	-	41	6795	c.6717G>T	c.(6715-6717)acG>acT	p.T2239T	BRWD1_ENST00000380800.3_Intron|BRWD1_ENST00000333229.2_Intron	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T2239T(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTGATTTCTCGTTTTTATTT	0.393													5	260	---	---	---	---	0	0
BRWD1	54014	broad.mit.edu	37	21	40630419	40630419	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:40630419G>T	ENST00000342449.3	-	18	2143	c.2065C>A	c.(2065-2067)Cgg>Agg	p.R689R	BRWD1_ENST00000380800.3_Silent_p.R689R|BRWD1_ENST00000333229.2_Silent_p.R689R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTACCTCTCCGGGGTGTTTCT	0.388													5	181	---	---	---	---	0	0
PRDM15	63977	broad.mit.edu	37	21	43281789	43281789	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:43281789C>A	ENST00000269844.3	-	7	884	c.774G>T	c.(772-774)ctG>ctT	p.L258L	PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGCTCATCCCCAGCAGCTTGA	0.512													5	74	---	---	---	---	0	0
MYO18B	84700	broad.mit.edu	37	22	26422472	26422472	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:26422472C>A	ENST00000335473.7	+	43	6782	c.6532C>A	c.(6532-6534)Cgg>Agg	p.R2178R	MYO18B_ENST00000407587.2_Silent_p.R2179R|MYO18B_ENST00000536101.1_Silent_p.R2178R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2178						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGCAGAGCCCGGTCCACCAA	0.537													5	183	---	---	---	---	0	0
MYH9	4627	broad.mit.edu	37	22	36718479	36718479	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:36718479G>T	ENST00000216181.5	-	6	930	c.700C>A	c.(700-702)Cgc>Agc	p.R234S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	234	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCACGAAGCGGGAGGAGTTG	0.657			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				5	86	---	---	---	---	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658320	46658320	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:46658320C>A	ENST00000253255.5	-	1	899	c.900G>T	c.(898-900)tgG>tgT	p.W300C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	300	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CATACACTCCCCACTGTAACG	0.552													7	245	---	---	---	---	0	0
TTLL8	164714	broad.mit.edu	37	22	50480096	50480096	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:50480096C>T	ENST00000266182.6	-	7	783	c.784G>A	c.(784-786)Gag>Aag	p.E262K	TTLL8_ENST00000440475.1_Missense_Mutation_p.E262K					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CACTCGGCCTCAGTGAGGTCC	0.607													5	27	---	---	---	---	0	0
STS	412	broad.mit.edu	37	X	7171276	7171276	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:7171276G>T	ENST00000217961.4	+	2	271	c.51G>T	c.(49-51)tgG>tgT	p.W17C		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	17					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TCTTTCTGTGGGAAGCCGAGA	0.493									Ichthyosis				4	29	---	---	---	---	0	0
PPEF1	5475	broad.mit.edu	37	X	18775837	18775837	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:18775837C>A	ENST00000361511.4	+	8	983	c.489C>A	c.(487-489)ccC>ccA	p.P163P	PPEF1_ENST00000544635.1_Silent_p.P98P|PPEF1_ENST00000359763.6_Silent_p.P110P|PPEF1_ENST00000349874.5_Silent_p.P163P|PPEF1_ENST00000543630.1_Silent_p.P163P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	163	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AAACTTCTCCCTCCAAAGAGG	0.408													6	108	---	---	---	---	0	0
ZFX	7543	broad.mit.edu	37	X	24229057	24229057	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:24229057C>A	ENST00000379177.1	+	11	2409	c.1982C>A	c.(1981-1983)cCc>cAc	p.P661H	ZFX_ENST00000540034.1_Missense_Mutation_p.P700H|ZFX_ENST00000539115.1_Missense_Mutation_p.P432H|ZFX_ENST00000379188.3_Missense_Mutation_p.P661H|ZFX_ENST00000304543.5_Missense_Mutation_p.P661H|ZFX_ENST00000338565.3_Missense_Mutation_p.P611H	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAAGACTACCCCCATAAGTGT	0.438													5	64	---	---	---	---	0	0
SSX5	6758	broad.mit.edu	37	X	48049696	48049696	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:48049696G>T	ENST00000311798.1	-	7	514	c.462C>A	c.(460-462)ccC>ccA	p.P154P	SSX5_ENST00000347757.1_Silent_p.P113P|SSX5_ENST00000376923.1_Silent_p.P113P	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGGCTTCTCGGGCGTGATCT	0.433													5	168	---	---	---	---	0	0
FOXR2	139628	broad.mit.edu	37	X	55651014	55651014	+	Silent	SNP	T	T	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:55651014T>G	ENST00000339140.3	+	1	1182	c.870T>G	c.(868-870)gcT>gcG	p.A290A		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	290					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TAGCCTTTGCTCAAAGGGAGA	0.493													17	15	---	---	---	---	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74637002	74637002	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:74637002G>T	ENST00000541184.1	-	9	1337	c.860C>A	c.(859-861)cCt>cAt	p.P287H	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.P296H	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	296						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AGACCTCATAGGGAAGGAGTG	0.443													6	95	---	---	---	---	0	0
ATP7A	538	broad.mit.edu	37	X	77254141	77254141	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:77254141C>A	ENST00000341514.6	+	5	1658	c.1503C>A	c.(1501-1503)tcC>tcA	p.S501S	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.S501S	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	501	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTTGCGCTTCCTGTGTAGCAA	0.403													6	134	---	---	---	---	0	0
BRWD3	254065	broad.mit.edu	37	X	79937586	79937586	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:79937586C>A	ENST00000373275.4	-	39	4621	c.4405G>T	c.(4405-4407)Ggg>Tgg	p.G1469W	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1469										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCTGCTTCCCTTTTGGACTA	0.358													5	46	---	---	---	---	0	0
GPR112	139378	broad.mit.edu	37	X	135428404	135428404	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:135428404C>A	ENST00000394143.1	+	6	2830	c.2539C>A	c.(2539-2541)Cat>Aat	p.H847N	GPR112_ENST00000412101.1_Missense_Mutation_p.H642N|GPR112_ENST00000394141.1_Missense_Mutation_p.H642N|GPR112_ENST00000287534.4_Missense_Mutation_p.H784N|GPR112_ENST00000370652.1_Missense_Mutation_p.H847N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	847					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCAACTTCCCATTATCTTAT	0.418													6	119	---	---	---	---	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638074	149638074	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:149638074G>T	ENST00000370401.2	+	4	539	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G77W|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G52W|MAMLD1_ENST00000432680.2_Missense_Mutation_p.G52W			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	77					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.G5fs*36(1)|p.G78fs*36(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CATGGCTGATGGGGGCTACCC	0.493													5	77	---	---	---	---	0	0
SPRR3	6707	broad.mit.edu	37	1	152975781	152975781	+	Silent	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr1:152975781G>A	ENST00000331860.3	+	3	435	c.285G>A	c.(283-285)gaG>gaA	p.E95E	SPRR3_ENST00000542696.1_Intron|SPRR3_ENST00000295367.4_Silent_p.E95E	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTCCCTGAGCCAGGTTGTA	0.592													18	38	---	---	---	---	0	0
RPSA	3921	broad.mit.edu	37	3	39450137	39450137	+	Silent	SNP	T	T	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr3:39450137T>G	ENST00000301821.6	+	3	283	c.174T>G	c.(172-174)ctT>ctG	p.L58L	RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.L58L	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	58	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GGGAGAAGCTTCTGCTGGCAG	0.458													16	46	---	---	---	---	0	0
FOXP1	27086	broad.mit.edu	37	3	71037204	71037204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr3:71037204G>A	ENST00000318789.4	-	14	1612	c.1087C>T	c.(1087-1089)Caa>Taa	p.Q363*	FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q365*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q287*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q363*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	363	Leucine-zipper.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATCATGGCTTGCAGGCGTTCT	0.428			T	PAX5	ALL								63	154	---	---	---	---	0	0
TLR1	7096	broad.mit.edu	37	4	38798749	38798749	+	Silent	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:38798749C>T	ENST00000308979.2	-	4	1977	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	TLR1_ENST00000502213.2_Silent_p.K568K	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	568	LRRCT.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGTGAAAGTCCTTTAGTAGGG	0.448													32	111	---	---	---	---	0	0
DCHS2	54798	broad.mit.edu	37	4	155158120	155158120	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:155158120C>A	ENST00000357232.4	-	25	6318	c.6319G>T	c.(6319-6321)Gct>Tct	p.A2107S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAACCAGAGCATCCTCACTT	0.398													5	207	---	---	---	---	0	0
NYAP1	222950	broad.mit.edu	37	7	100084560	100084560	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr7:100084560C>T	ENST00000423930.1	+	3	344	c.185C>T	c.(184-186)aCg>aTg	p.T62M	NYAP1_ENST00000300179.2_Missense_Mutation_p.T62M|NYAP1_ENST00000454988.1_Missense_Mutation_p.T5M			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	62																	GGTTTCATGACGATGCCCGCC	0.751													4	11	---	---	---	---	0	0
KIFC2	90990	broad.mit.edu	37	8	145697577	145697577	+	Silent	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr8:145697577G>A	ENST00000301332.2	+	14	1919	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E	KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Silent_p.E262E	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	514	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGTTCCGGGAGATGGGGGCCG	0.652													3	74	---	---	---	---	0	0
ABL1	25	broad.mit.edu	37	9	133753877	133753877	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr9:133753877A>G	ENST00000318560.5	+	8	1727	c.1346A>G	c.(1345-1347)tAt>tGt	p.Y449C		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	449	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCCCAGGTGTATGAGCTGCTA	0.507			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								62	178	---	---	---	---	0	0
LDB3	11155	broad.mit.edu	37	10	88447004	88447004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr10:88447004C>T	ENST00000429277.2	+	6	1013	c.868C>T	c.(868-870)Caa>Taa	p.Q290*	LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000458213.2_Nonsense_Mutation_p.Q175*|LDB3_ENST00000372066.3_Nonsense_Mutation_p.Q175*|LDB3_ENST00000372056.4_Nonsense_Mutation_p.Q290*|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000263066.6_Nonsense_Mutation_p.Q175*|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000352360.5_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	280						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGGGCAGGCCCAAGCCCAAGG	0.637													21	82	---	---	---	---	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090966	115090966	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr13:115090966T>C	ENST00000361283.1	+	3	1958	c.1649T>C	c.(1648-1650)cTt>cCt	p.L550P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	550	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AAACGTGCCCTTTTTCCAGAG	0.517													5	328	---	---	---	---	0	0
C14orf159	80017	broad.mit.edu	37	14	91655506	91655506	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr14:91655506T>G	ENST00000518868.1	+	12	1877	c.1187T>G	c.(1186-1188)gTt>gGt	p.V396G	C14orf159_ENST00000523816.1_Missense_Mutation_p.V391G|C14orf159_ENST00000256324.10_Missense_Mutation_p.V396G|C14orf159_ENST00000521077.2_Missense_Mutation_p.V396G|C14orf159_ENST00000428926.2_Missense_Mutation_p.V391G|C14orf159_ENST00000525393.2_Missense_Mutation_p.V267G|C14orf159_ENST00000523771.1_Missense_Mutation_p.V391G|C14orf159_ENST00000412671.2_Missense_Mutation_p.V396G|C14orf159_ENST00000522322.1_Missense_Mutation_p.V391G|C14orf159_ENST00000520328.1_Missense_Mutation_p.V379G			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	391						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GAAGATGCTGTTGAGCAAGGT	0.532													19	87	---	---	---	---	0	0
KNOP1	400506	broad.mit.edu	37	16	19725711	19725711	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr16:19725711T>G	ENST00000219837.7	-	2	725	c.647A>C	c.(646-648)aAa>aCa	p.K216T	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		GTGGATTTTTTTTTTCTTCTT	0.532													3	59	---	---	---	---	0	0
KIAA1328	57536	broad.mit.edu	37	18	34802090	34802090	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:34802090G>T	ENST00000591619.1	+	10	2408	c.1622G>T	c.(1621-1623)cGa>cTa	p.R541L	KIAA1328_ENST00000280020.5_Missense_Mutation_p.R545L|KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000586135.1_3'UTR			Q86T90	K1328_HUMAN	KIAA1328	545										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGTACTTTCCGACTCAGTCCT	0.478													4	15	---	---	---	---	0	0
CTC-260F20.3	0	broad.mit.edu	37	19	19645880	19645880	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:19645880C>T	ENST00000555938.1	+	5	365	c.353C>T	c.(352-354)aCg>aTg	p.T118M	YJEFN3_ENST00000436027.5_Missense_Mutation_p.T69M|YJEFN3_ENST00000514277.4_Missense_Mutation_p.T119M|YJEFN3_ENST00000608404.1_Missense_Mutation_p.T118M																							AAGCAGAGGACGGTGCTGGTC	0.642													73	152	---	---	---	---	0	0
VPS16	64601	broad.mit.edu	37	20	2842496	2842496	+	Silent	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr20:2842496G>A	ENST00000380445.3	+	10	1017	c.945G>A	c.(943-945)ggG>ggA	p.G315G	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	315					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGCTCGATGGGGTCCGCATCT	0.592													7	24	---	---	---	---	0	0
IL3RA	3563	broad.mit.edu	37	X	1501315	1501315	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chrX:1501315A>G	ENST00000331035.4	+	12	1443	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G	IL3RA_ENST00000381469.2_Missense_Mutation_p.E287G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	365						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCCGGCCTGGAGGAGTGTCTG	0.637													32	161	---	---	---	---	0	0
PARK7	0	broad.mit.edu	37	1	8025453	8025453	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:8025453C>G	ENST00000493678.1	+	3	227	c.160C>G	c.(160-162)Cct>Gct	p.P54A	PARK7_ENST00000377491.1_Missense_Mutation_p.P54A|PARK7_ENST00000377493.5_Missense_Mutation_p.P54A|PARK7_ENST00000338639.5_Missense_Mutation_p.P54A|PARK7_ENST00000377488.1_Missense_Mutation_p.P54A|PARK7_ENST00000497113.1_3'UTR			Q99497	PARK7_HUMAN	parkinson protein 7	54					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCATTTGTCCTGATGCCAG	0.408													15	48	---	---	---	---	0	0
F5	2153	broad.mit.edu	37	1	169489881	169489881	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:169489881C>T	ENST00000367796.3	-	22	6286	c.6085G>A	c.(6085-6087)Gcc>Acc	p.A2029T	F5_ENST00000367797.3_Missense_Mutation_p.A2024T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2024	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATTGTAGAGGCATCTGAATTG	0.323													9	47	---	---	---	---	0	0
ZNF512	84450	broad.mit.edu	37	2	27822524	27822524	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:27822524C>T	ENST00000355467.4	+	4	435	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Nonsense_Mutation_p.Q41*|ZNF512_ENST00000416005.2_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000556601.1_Silent_p.L28L|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000379717.1_Nonsense_Mutation_p.Q117*	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGAATTTCCTCAGAAGAAGCA	0.418													10	47	---	---	---	---	0	0
BIRC6	57448	broad.mit.edu	37	2	32712725	32712725	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:32712725C>A	ENST00000421745.2	+	41	7959	c.7825C>A	c.(7825-7827)Ccc>Acc	p.P2609T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2609					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCACAGTCTCCCACTGGAAC	0.328													25	85	---	---	---	---	0	0
ATIC	471	broad.mit.edu	37	2	216211488	216211488	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:216211488G>A	ENST00000435675.1	+	13	1715	c.1324G>A	c.(1324-1326)Ggc>Agc	p.G442S	ATIC_ENST00000236959.9_Missense_Mutation_p.G443S|ATIC_ENST00000540518.1_Missense_Mutation_p.G384S			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	443					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TCAGGTTATCGGCATTGGAGC	0.433			T	ALK	ALCL								36	139	---	---	---	---	0	0
ARL4C	10123	broad.mit.edu	37	2	235405080	235405080	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:235405080T>A	ENST00000390645.2	-	1	617	c.151A>T	c.(151-153)Aag>Tag	p.K51*	ARL4C_ENST00000339728.3_Nonsense_Mutation_p.K51*	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	51					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		AGCTTGATCTTCTCGGTGTTG	0.622													14	55	---	---	---	---	0	0
OPA1	4976	broad.mit.edu	37	3	193380716	193380716	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr3:193380716C>G	ENST00000361510.2	+	26	2860	c.2626C>G	c.(2626-2628)Ctt>Gtt	p.L876V	OPA1_ENST00000361828.2_Missense_Mutation_p.L839V|OPA1_ENST00000392438.3_Missense_Mutation_p.L821V|OPA1_ENST00000361908.3_Missense_Mutation_p.L858V|OPA1_ENST00000361715.2_Missense_Mutation_p.L840V|OPA1_ENST00000361150.2_Missense_Mutation_p.L822V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	821					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CCGGAAGAACCTTGAATCCCG	0.388													17	59	---	---	---	---	0	0
SLAIN2	57606	broad.mit.edu	37	4	48371866	48371866	+	Splice_Site	SNP	G	G	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:48371866G>T	ENST00000264313.6	+	2	808	c.390G>T	c.(388-390)tgG>tgT	p.W130C	SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	130						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CTTCTTCTAGGCTGTATTCAT	0.373													15	57	---	---	---	---	0	0
TIGD2	166815	broad.mit.edu	37	4	90034422	90034422	+	Silent	SNP	A	A	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:90034422A>G	ENST00000317005.2	+	1	455	c.297A>G	c.(295-297)ggA>ggG	p.G99G		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	99	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CAGTGTCCGGAACGATTTGTG	0.418													11	118	---	---	---	---	0	0
SMARCA5	8467	broad.mit.edu	37	4	144466687	144466687	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:144466687A>T	ENST00000283131.3	+	18	2810	c.2348A>T	c.(2347-2349)gAa>gTa	p.E783V		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	783					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGTTTATTTGAATTACTGGAA	0.328													15	59	---	---	---	---	0	0
FBN2	2201	broad.mit.edu	37	5	127710364	127710364	+	Silent	SNP	A	A	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr5:127710364A>G	ENST00000508053.1	-	21	3026	c.2052T>C	c.(2050-2052)tgT>tgC	p.C684C	FBN2_ENST00000508989.1_Silent_p.C651C|FBN2_ENST00000262464.4_Silent_p.C684C|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	684	EGF-like 10; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCCTGGGGGACAGTCACAGC	0.502													24	68	---	---	---	---	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927511	35927511	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr6:35927511T>C	ENST00000490799.1	-	15	2064	c.1711A>G	c.(1711-1713)Aag>Gag	p.K571E	SLC26A8_ENST00000394602.2_Missense_Mutation_p.K466E|SLC26A8_ENST00000355574.2_Missense_Mutation_p.K571E	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	571	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCTTATGCTTTAGGTAGTAA	0.473													22	100	---	---	---	---	0	0
AUTS2	26053	broad.mit.edu	37	7	70252229	70252229	+	Silent	SNP	C	C	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:70252229C>A	ENST00000342771.4	+	18	2664	c.2343C>A	c.(2341-2343)ccC>ccA	p.P781P	AUTS2_ENST00000406775.2_Silent_p.P757P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	781										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGGATGGCCCCAGTGTGCAGA	0.532													13	37	---	---	---	---	0	0
RELN	5649	broad.mit.edu	37	7	103180802	103180802	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:103180802A>G	ENST00000424685.2	-	44	6931	c.6772T>C	c.(6772-6774)Tgg>Cgg	p.W2258R	RELN_ENST00000428762.1_Missense_Mutation_p.W2258R|RELN_ENST00000343529.5_Missense_Mutation_p.W2258R			P78509	RELN_HUMAN	reelin	2258					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAAGACTCCACGAGAGGCCA	0.517													21	102	---	---	---	---	0	0
CDHR3	222256	broad.mit.edu	37	7	105660967	105660967	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:105660967C>T	ENST00000542731.1	+	13	1910	c.1802C>T	c.(1801-1803)tCt>tTt	p.S601F	CDHR3_ENST00000478080.1_Missense_Mutation_p.S513F|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.S601F|CDHR3_ENST00000470188.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	601	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGCCCCAGATCTTTCCGTTAT	0.493													19	61	---	---	---	---	0	0
TSPAN12	23554	broad.mit.edu	37	7	120455842	120455842	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:120455842G>A	ENST00000222747.3	-	5	908	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	TSPAN12_ENST00000415871.1_Missense_Mutation_p.L101F	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	101			L -> H (in EVR5).		angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AAAATGACAAGCAAACTTCCA	0.343													4	34	---	---	---	---	0	0
HIPK2	28996	broad.mit.edu	37	7	139285234	139285234	+	Silent	SNP	G	G	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:139285234G>A	ENST00000406875.3	-	11	2458	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	HIPK2_ENST00000428878.2_Silent_p.A761A|HIPK2_ENST00000342645.6_Silent_p.A788A	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	788	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCATCACGTGGGCCACACCCA	0.567													14	56	---	---	---	---	0	0
DIP2C	22982	broad.mit.edu	37	10	408505	408505	+	Silent	SNP	G	G	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:408505G>A	ENST00000280886.6	-	22	2806	c.2719C>T	c.(2719-2721)Ctg>Ttg	p.L907L	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.L228L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	907						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAGGGGTGCAGAGAGCCCTCC	0.537													11	48	---	---	---	---	0	0
KNDC1	85442	broad.mit.edu	37	10	135015083	135015083	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:135015083A>G	ENST00000304613.3	+	17	3089	c.3068A>G	c.(3067-3069)gAc>gGc	p.D1023G	KNDC1_ENST00000368572.2_Missense_Mutation_p.D1025G|KNDC1_ENST00000368571.2_Missense_Mutation_p.D958G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1023					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GTGGACTCGGACGCACTGTCA	0.622													16	74	---	---	---	---	0	0
KRT6C	286887	broad.mit.edu	37	12	52863587	52863587	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr12:52863587C>T	ENST00000252250.6	-	7	1338	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	431	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AGGGCATCCTCCAGCCCTTCC	0.597													18	66	---	---	---	---	0	0
RYR3	6263	broad.mit.edu	37	15	34137219	34137219	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr15:34137219A>G	ENST00000389232.4	+	93	13523	c.13453A>G	c.(13453-13455)Acc>Gcc	p.T4485A	RYR3_ENST00000415757.3_Missense_Mutation_p.T4480A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4485					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCATCCATACCATCATCTC	0.498													13	66	---	---	---	---	0	0
BBS4	585	broad.mit.edu	37	15	73029880	73029880	+	Silent	SNP	G	G	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr15:73029880G>A	ENST00000268057.4	+	16	1553	c.1512G>A	c.(1510-1512)gcG>gcA	p.A504A	BBS4_ENST00000539603.1_Silent_p.A492A|BBS4_ENST00000542334.1_Silent_p.A332A|BBS4_ENST00000395205.2_Silent_p.A512A	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	504	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CAGAGCCTGCGGTGGAATCAA	0.443									Bardet-Biedl syndrome				5	15	---	---	---	---	0	0
ITFG3	83986	broad.mit.edu	37	16	314964	314964	+	Silent	SNP	C	C	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr16:314964C>T	ENST00000399932.3	+	13	2053	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D	ITFG3_ENST00000301678.3_Silent_p.D534D|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000450082.2_Intron	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	534						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GTGGGCCAGACAGTGACCAAG	0.652													14	61	---	---	---	---	0	0
C16orf82	0	broad.mit.edu	37	16	27078584	27078584	+	RNA	SNP	G	G	A			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr16:27078584G>A	ENST00000505035.1	+	0	557				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			CCTGAGCAGCGGGTACGCAGG	0.642													14	15	---	---	---	---	0	0
BRD1	23774	broad.mit.edu	37	22	50217248	50217248	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr22:50217248C>T	ENST00000216267.8	-	1	1204	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	BRD1_ENST00000404760.1_Missense_Mutation_p.A240T|BRD1_ENST00000404034.1_Missense_Mutation_p.A240T|BRD1_ENST00000457780.2_Missense_Mutation_p.A240T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	240					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGTGCACGGCCAGGTTGCAC	0.657													9	22	---	---	---	---	0	0
GPR119	139760	broad.mit.edu	37	X	129518743	129518743	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chrX:129518743C>G	ENST00000276218.2	-	1	768	c.679G>C	c.(679-681)Gtg>Ctg	p.V227L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	227						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGAACAGACACAGTACGGAGA	0.547													27	20	---	---	---	---	0	0
ELTD1	64123	broad.mit.edu	37	1	79470893	79470893	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:79470893T>A	ENST00000370742.3	-	2	97	c.34A>T	c.(34-36)Act>Tct	p.T12S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	12					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCAACAAAGTGGAAAAAACC	0.313													12	31	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228466409	228466409	+	Silent	SNP	G	G	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:228466409G>A	ENST00000570156.2	+	31	8240	c.8166G>A	c.(8164-8166)gtG>gtA	p.V2722V	OBSCN_ENST00000284548.11_Silent_p.V2293V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.V1140V|OBSCN_ENST00000422127.1_Silent_p.V2293V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1720	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGACCCTCGTGCGCCCGCTGC	0.667													11	84	---	---	---	---	0	0
ZNF695	57116	broad.mit.edu	37	1	247151356	247151356	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:247151356T>C	ENST00000339986.7	-	4	608	c.461A>G	c.(460-462)aAa>aGa	p.K154R	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	154					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGAAAGTTTTTGCTATGAGT	0.348													24	245	---	---	---	---	0	0
C1QL2	165257	broad.mit.edu	37	2	119915213	119915213	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:119915213C>T	ENST00000272520.3	-	1	1252	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	211	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CGCCGCCGCGCATGAGGATGT	0.637										HNSCC(49;0.14)			25	45	---	---	---	---	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152235947	152235947	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:152235947T>C	ENST00000243347.3	+	6	809	c.734T>C	c.(733-735)gTt>gCt	p.V245A		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	245	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATCAAATATGTTGCAATGGAT	0.378													15	159	---	---	---	---	0	0
CAND2	23066	broad.mit.edu	37	3	12845003	12845003	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr3:12845003G>T	ENST00000456430.2	+	2	126	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	CAND2_ENST00000295989.5_Missense_Mutation_p.D29Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	29					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGCCACCAGCGACCTGATGTC	0.607													4	79	---	---	---	---	0	0
LRRC16A	55604	broad.mit.edu	37	6	25538149	25538149	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr6:25538149G>A	ENST00000329474.6	+	25	2502	c.2134G>A	c.(2134-2136)Gct>Act	p.A712T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	712					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGGGGAGACGCTATCCAGGA	0.433													3	16	---	---	---	---	0	0
TAF5	6877	broad.mit.edu	37	10	105133312	105133312	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr10:105133312T>A	ENST00000369839.3	+	2	780	c.757T>A	c.(757-759)Tac>Aac	p.Y253N	TAF5_ENST00000351396.4_Missense_Mutation_p.Y253N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	253					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGAGCTAGTCTACAATCAACA	0.388													29	54	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420975	105420975	+	Silent	SNP	C	C	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr14:105420975C>A	ENST00000333244.5	-	7	932	c.813G>T	c.(811-813)cgG>cgT	p.R271R		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	271						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCCGGCCCCCGCTTGCTCT	0.582													7	19	---	---	---	---	0	0
SNHG14	0	broad.mit.edu	37	15	25442635	25442635	+	RNA	SNP	G	G	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr15:25442635G>T	ENST00000424208.1	+	0	1611				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						CCTTCCTGATGCCCTGGTCTC	0.592													34	69	---	---	---	---	0	0
FBN1	2200	broad.mit.edu	37	15	48905245	48905245	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr15:48905245C>G	ENST00000316623.5	-	3	664	c.209G>C	c.(208-210)gGa>gCa	p.G70A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	70					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTTTTCCATCCAGGGCAACA	0.383													15	134	---	---	---	---	0	0
RPL28	6158	broad.mit.edu	37	19	55898050	55898050	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr19:55898050A>T	ENST00000344063.2	+	3	823	c.194A>T	c.(193-195)aAg>aTg	p.K65M	RPL28_ENST00000458349.2_Missense_Mutation_p.K65M|RPL28_ENST00000558815.1_Missense_Mutation_p.K65M|RPL28_ENST00000560055.1_Missense_Mutation_p.K65M|RPL28_ENST00000428193.2_Missense_Mutation_p.K65M|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000559463.1_Missense_Mutation_p.K65M|RPL28_ENST00000560583.1_Missense_Mutation_p.K65M|RPL28_ENST00000431533.2_Missense_Mutation_p.K65M|RPL28_ENST00000558752.1_Missense_Mutation_p.K65M			P46779	RL28_HUMAN	ribosomal protein L28	65					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTGGTCATTAAGCGGAGATCC	0.577													47	113	---	---	---	---	0	0
ENTPD6	0	broad.mit.edu	37	20	25201904	25201904	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr20:25201904C>T	ENST00000360031.2	+	11	1159	c.977C>T	c.(976-978)tCt>tTt	p.S326F	ENTPD6_ENST00000376652.4_Missense_Mutation_p.S327F|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S310F	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	327						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCTTGCTTGTCTCCCAGTTTC	0.512													20	43	---	---	---	---	0	0
MED15	51586	broad.mit.edu	37	22	20922879	20922879	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr22:20922879G>C	ENST00000263205.7	+	8	1182	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	MED15_ENST00000382974.2_Missense_Mutation_p.Q300H|MED15_ENST00000292733.7_Missense_Mutation_p.Q371H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_Missense_Mutation_p.Q176H|MED15_ENST00000406969.1_Missense_Mutation_p.Q345H|MED15_ENST00000425759.2_Missense_Mutation_p.Q260H|MED15_ENST00000541476.1_Missense_Mutation_p.Q345H	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	371	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGCAGTACAGACAGCTCAGG	0.617													12	42	---	---	---	---	0	0
VPS13D	55187	broad.mit.edu	37	1	12331156	12331156	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:12331156A>G	ENST00000358136.3	+	17	2208	c.2078A>G	c.(2077-2079)gAt>gGt	p.D693G	VPS13D_ENST00000356315.4_Missense_Mutation_p.D693G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	693					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAACTCTTGATCGTTTGCTA	0.468													27	53	---	---	---	---	0	0
F3	2152	broad.mit.edu	37	1	94996023	94996023	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:94996023A>G	ENST00000334047.7	-	6	1044	c.881T>C	c.(880-882)gTt>gCt	p.V294A	F3_ENST00000370207.4_3'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	294					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CCTTTATGAAACATTCAGTGG	0.433													3	85	---	---	---	---	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266112	41266112	+	Missense_Mutation	SNP	T	T	G	rs121913416		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr3:41266112T>G	ENST00000349496.5	+	3	389	c.109T>G	c.(109-111)Tct>Gct	p.S37A	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37A(62)|p.A5_A80del(53)|p.S37P(21)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.I35_S37>T(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.S37T(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGAATCCATTCTGGTGCCAC	0.498	S37P(HEC108_ENDOMETRIUM)|S37P(SNGM_ENDOMETRIUM)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	46	---	---	---	---	0	0
TIFAB	497189	broad.mit.edu	37	5	134785319	134785319	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr5:134785319C>T	ENST00000537858.1	-	2	511	c.311G>A	c.(310-312)aGg>aAg	p.R104K		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	104										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAAGGAGACCCTGTTGACGGT	0.587													12	114	---	---	---	---	0	0
NEDD9	4739	broad.mit.edu	37	6	11191315	11191315	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr6:11191315T>C	ENST00000379446.5	-	5	953	c.787A>G	c.(787-789)Att>Gtt	p.I263V	NEDD9_ENST00000504387.1_Missense_Mutation_p.I263V|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	263					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTTGGAGGAATGTCATAAACC	0.552													3	76	---	---	---	---	0	0
ZNF79	7633	broad.mit.edu	37	9	130191138	130191138	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr9:130191138C>T	ENST00000342483.5	+	2	450	c.44C>T	c.(43-45)cCc>cTc	p.P15L	ZNF79_ENST00000543471.1_5'UTR	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCTGCCCTTCCCCAAGAGGAA	0.478													5	17	---	---	---	---	0	0
WDR37	22884	broad.mit.edu	37	10	1142152	1142152	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:1142152A>G	ENST00000358220.1	+	9	836	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	WDR37_ENST00000381329.1_Missense_Mutation_p.Q231R|WDR37_ENST00000263150.4_Missense_Mutation_p.Q231R			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	231										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TACGCGGTGCAGCTGCCGACA	0.488													8	66	---	---	---	---	0	0
RASSF7	8045	broad.mit.edu	37	11	562264	562264	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:562264G>A	ENST00000397583.3	+	3	743	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000431809.1_Missense_Mutation_p.E104K|RASSF7_ENST00000454668.2_Missense_Mutation_p.E104K|RASSF7_ENST00000397582.3_Missense_Mutation_p.E104K|RASSF7_ENST00000344375.4_Missense_Mutation_p.E104K	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	104					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCACCCCCGGAACGCTGCCT	0.667													5	49	---	---	---	---	0	0
AMHR2	269	broad.mit.edu	37	12	53819285	53819285	+	Silent	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr12:53819285A>G	ENST00000257863.4	+	5	629	c.549A>G	c.(547-549)ccA>ccG	p.P183P	AMHR2_ENST00000379791.3_Silent_p.P183P|AMHR2_ENST00000550311.1_Silent_p.P183P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	183					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AGCCAGTGCCAGAGCCAAGGC	0.592													3	80	---	---	---	---	0	0
SSTR1	0	broad.mit.edu	37	14	38679035	38679035	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr14:38679035T>A	ENST00000267377.2	+	3	1058	c.441T>A	c.(439-441)tgT>tgA	p.C147*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	147					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCATCTACTGTCTGACTGTGC	0.647													6	160	---	---	---	---	0	0
RYR3	6263	broad.mit.edu	37	15	33928661	33928661	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr15:33928661G>T	ENST00000389232.4	+	27	3536	c.3466G>T	c.(3466-3468)Gat>Tat	p.D1156Y	RYR3_ENST00000415757.3_Missense_Mutation_p.D1156Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1156	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAACCTGGATGATGCTTCAAT	0.483													4	145	---	---	---	---	0	0
CHD3	1107	broad.mit.edu	37	17	7806622	7806622	+	Silent	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:7806622C>T	ENST00000380358.4	+	23	3706	c.3705C>T	c.(3703-3705)gcC>gcT	p.A1235A	CHD3_ENST00000330494.7_Silent_p.A1176A|CHD3_ENST00000358181.4_Silent_p.A1176A	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1176					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TTGGCCAGGCCAACAAAGTGA	0.577													6	62	---	---	---	---	0	0
NCOR1	9611	broad.mit.edu	37	17	15971376	15971376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:15971376G>A	ENST00000268712.3	-	32	4830	c.4573C>T	c.(4573-4575)Cag>Tag	p.Q1525*	NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Q109*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1541*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1525	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTTCCCTCTGGGTAGGGGTC	0.493													6	19	---	---	---	---	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458366	42458366	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:42458366C>A	ENST00000262407.5	-	13	1305	c.1274G>T	c.(1273-1275)gGt>gTt	p.G425V	ITGA2B_ENST00000377068.3_Missense_Mutation_p.G110V|ITGA2B_ENST00000353281.4_Missense_Mutation_p.G425V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	425					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CTCACTCTGACCCAGGAACAC	0.612													15	32	---	---	---	---	0	0
KANSL1	284058	broad.mit.edu	37	17	44145009	44145009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:44145009C>A	ENST00000262419.6	-	5	2028	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	KANSL1_ENST00000432791.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.E520*	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	520						MLL1 complex	protein binding										CCATGGTTTTCCAATGGCTGA	0.413													4	36	---	---	---	---	0	0
RGS9	8787	broad.mit.edu	37	17	63200388	63200388	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:63200388C>T	ENST00000449996.3	+	15	1235	c.1163C>T	c.(1162-1164)gCa>gTa	p.A388V	RGS9_ENST00000443584.3_Missense_Mutation_p.A388V|RGS9_ENST00000262406.9_Missense_Mutation_p.A391V	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	391	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CTGGACGCCGCACAAACCCAC	0.557													4	44	---	---	---	---	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267073	66267073	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:66267073C>T	ENST00000327268.4	-	6	1392	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	SLC16A6_ENST00000580666.1_Missense_Mutation_p.D410N|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	410						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	ACGACATCATCCTCAGCAAGC	0.468													8	97	---	---	---	---	0	0
OTOP2	92736	broad.mit.edu	37	17	72926528	72926528	+	Silent	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:72926528T>C	ENST00000331427.4	+	6	890	c.798T>C	c.(796-798)ggT>ggC	p.G266G	OTOP2_ENST00000580223.1_Silent_p.G266G	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	266						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAATGTGGGTAGATTCCTGG	0.572													76	169	---	---	---	---	0	0
RDH8	50700	broad.mit.edu	37	19	10131942	10131942	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:10131942T>C	ENST00000591589.1	+	5	797	c.608T>C	c.(607-609)gTg>gCg	p.V203A	RDH8_ENST00000171214.1_Missense_Mutation_p.V183A			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	183					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	ATCTCCCTGGTGGAGCCAGGC	0.532													4	50	---	---	---	---	0	0
PRKACA	5566	broad.mit.edu	37	19	14208444	14208444	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:14208444A>C	ENST00000308677.4	-	7	785	c.589T>G	c.(589-591)Tgg>Ggg	p.W197G	PRKACA_ENST00000589994.1_Missense_Mutation_p.W189G|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	197	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CACAAGGTCCAAGTGCGGCCC	0.642													7	39	---	---	---	---	0	0
ANKLE1	126549	broad.mit.edu	37	19	17397230	17397230	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:17397230G>A	ENST00000394458.3	+	9	1993	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R	ANKLE1_ENST00000404085.1_Missense_Mutation_p.G569R|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G536R|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.M500I	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	573						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCACTGCTATGGAGTGGTGGC	0.642													3	52	---	---	---	---	0	0
SYCP2	10388	broad.mit.edu	37	20	58470533	58470533	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr20:58470533T>C	ENST00000357552.3	-	20	1849	c.1624A>G	c.(1624-1626)Aga>Gga	p.R542G	SYCP2_ENST00000371001.2_Missense_Mutation_p.R542G			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	542					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTGATGATCTAGATTTCAGT	0.318													16	46	---	---	---	---	0	0
ASCC2	84164	broad.mit.edu	37	22	30185114	30185114	+	Missense_Mutation	SNP	C	C	T	rs139016848	by1000genomes	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr22:30185114C>T	ENST00000397771.2	-	21	2339	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	ASCC2_ENST00000307790.3_Missense_Mutation_p.R721H|ASCC2_ENST00000542393.1_Missense_Mutation_p.R645H			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGTTGTCTCGCGGCTCTGCCC	0.627													12	328	---	---	---	---	0	0
HFM1	164045	broad.mit.edu	37	1	91859724	91859724	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:91859724C>G	ENST00000370425.3	-	4	518	c.420G>C	c.(418-420)aaG>aaC	p.K140N	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	140							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAGGAACACTCTTCTCAGGTG	0.333													21	66	---	---	---	---	0	0
VIT	5212	broad.mit.edu	37	2	37035976	37035976	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:37035976G>A	ENST00000379242.3	+	15	2053	c.1751G>A	c.(1750-1752)aGt>aAt	p.S584N	VIT_ENST00000404084.1_Missense_Mutation_p.S521N|VIT_ENST00000401530.1_Missense_Mutation_p.S548N|VIT_ENST00000389975.3_Missense_Mutation_p.S569N|VIT_ENST00000497382.1_Missense_Mutation_p.S238N|VIT_ENST00000379241.3_Missense_Mutation_p.S547N	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	569	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGCTACTGGAGTGGTGGCACC	0.567													3	64	---	---	---	---	0	0
OTX1	5013	broad.mit.edu	37	2	63282957	63282957	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:63282957G>A	ENST00000366671.3	+	5	847	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	OTX1_ENST00000282549.2_Missense_Mutation_p.V191M	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	191						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCCCGCGTCCGTGTCGGTGCC	0.682													3	16	---	---	---	---	0	0
DOK1	1796	broad.mit.edu	37	2	74783766	74783766	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:74783766C>G	ENST00000233668.5	+	5	1640	c.971C>G	c.(970-972)gCt>gGt	p.A324G	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.A185G|DOK1_ENST00000340004.6_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	324					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGCACGTCTGCTCAGGCAGGA	0.567													26	100	---	---	---	---	0	0
UBR3	130507	broad.mit.edu	37	2	170885949	170885949	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:170885949T>A	ENST00000272793.5	+	31	4597	c.4547T>A	c.(4546-4548)aTg>aAg	p.M1516K	UBR3_ENST00000392631.1_Missense_Mutation_p.M337K|UBR3_ENST00000418381.1_Missense_Mutation_p.M1516K			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1516					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAGAAGAGATGAATCCACAG	0.318													13	33	---	---	---	---	0	0
PLSCR1	5359	broad.mit.edu	37	3	146246434	146246434	+	Silent	SNP	T	T	C			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:146246434T>C	ENST00000342435.4	-	4	689	c.279A>G	c.(277-279)ttA>ttG	p.L93L	PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Silent_p.L86L|PLSCR1_ENST00000448205.1_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	93					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GTGGACAGTTTAATGGAGGCT	0.428													65	99	---	---	---	---	0	0
PLSCR5	389158	broad.mit.edu	37	3	146307581	146307581	+	Silent	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:146307581C>T	ENST00000443512.1	-	6	1639	c.636G>A	c.(634-636)aaG>aaA	p.K212K	PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Silent_p.K212K|PLSCR5_ENST00000482567.1_Silent_p.K200K	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	212										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CAATTGTAAGCTTTTCATTAA	0.328													3	53	---	---	---	---	0	0
HTR3C	170572	broad.mit.edu	37	3	183778109	183778109	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:183778109T>A	ENST00000318351.1	+	9	1347	c.1313T>A	c.(1312-1314)aTc>aAc	p.I438N		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	438						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCTCCTCCATCCTTACTGTC	0.567													90	170	---	---	---	---	0	0
CDKL2	8999	broad.mit.edu	37	4	76532380	76532380	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:76532380C>T	ENST00000429927.2	-	4	1232	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	CDKL2_ENST00000307465.4_Missense_Mutation_p.V177I	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	177	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCATACTTGACATCACCAACC	0.418													41	54	---	---	---	---	0	0
KIAA1109	84162	broad.mit.edu	37	4	123091780	123091780	+	Translation_Start_Site	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:123091780G>A	ENST00000264501.4	+	0	351				KIAA1109_ENST00000455637.1_De_novo_Start_OutOfFrame|KIAA1109_ENST00000388738.3_De_novo_Start_OutOfFrame			Q2LD37	K1109_HUMAN	KIAA1109						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCCTTTAGATGTTGTTCTGGA	0.279													10	7	---	---	---	---	0	0
AC005609.1	0	broad.mit.edu	37	5	140242415	140242415	+	Silent	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:140242415C>T	ENST00000502505.1	-	1	809	c.561G>A	c.(559-561)gcG>gcA	p.A187A	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron																							GAGCGCGCGACGCGGGCATGC	0.637													8	33	---	---	---	---	0	0
TRIM31	11074	broad.mit.edu	37	6	30078314	30078314	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:30078314C>T	ENST00000376734.3	-	4	780	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.A219T	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	219				ASTEPQLNDLKKLVDSLK -> EIPLMPTVERSQEARCYP (in Ref. 6; CAA69165).		mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TCAGTGGAGGCAACATAGTGT	0.522													5	145	---	---	---	---	0	0
COL12A1	1303	broad.mit.edu	37	6	75812377	75812377	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:75812377G>A	ENST00000322507.8	-	56	8660	c.8351C>T	c.(8350-8352)cCt>cTt	p.P2784L	COL12A1_ENST00000416123.2_Missense_Mutation_p.P2708L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1620L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2784L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2784	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGGCCTGGAGGACCTATGTC	0.502													13	8	---	---	---	---	0	0
MAS1	4142	broad.mit.edu	37	6	160328313	160328313	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:160328313C>T	ENST00000252660.4	+	1	340	c.326C>T	c.(325-327)tCa>tTa	p.S109L		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	109					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GTCACATTATCAGTGACTTTT	0.453													34	88	---	---	---	---	0	0
RALYL	138046	broad.mit.edu	37	8	85097149	85097149	+	Translation_Start_Site	SNP	A	A	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr8:85097149A>T	ENST00000517638.1	+	0	40				RALYL_ENST00000521695.1_Intron|RALYL_ENST00000521268.1_Intron|RALYL_ENST00000522455.1_Intron|RALYL_ENST00000518566.1_Intron	NM_001100391.1	NP_001093861.1	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like								identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCTCCAGGCCACGCGAGCCGG	0.657													11	18	---	---	---	---	0	0
NTMT1	28989	broad.mit.edu	37	9	132397600	132397600	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr9:132397600G>T	ENST00000372486.1	+	4	878	c.529G>T	c.(529-531)Gac>Tac	p.D177Y	NTMT1_ENST00000482347.1_Missense_Mutation_p.D89Y|NTMT1_ENST00000372480.1_Missense_Mutation_p.D177Y|NTMT1_ENST00000372483.4_Missense_Mutation_p.D177Y|NTMT1_ENST00000372481.3_3'UTR					N-terminal Xaa-Pro-Lys N-methyltransferase 1																		CGTGATTCTGGACGACGTGGA	0.642													40	78	---	---	---	---	0	0
MKI67	4288	broad.mit.edu	37	10	129899951	129899951	+	Silent	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:129899951G>A	ENST00000368654.3	-	14	9651	c.9276C>T	c.(9274-9276)cgC>cgT	p.R3092R	MKI67_ENST00000368653.3_Silent_p.R2732R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3092					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCGTCTGGAGCGCAGGGATA	0.363													3	30	---	---	---	---	0	0
FIBP	9158	broad.mit.edu	37	11	65652991	65652991	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:65652991G>A	ENST00000338369.2	-	5	768	c.656C>T	c.(655-657)cCc>cTc	p.P219L	FIBP_ENST00000357519.4_Intron|FIBP_ENST00000533045.1_Intron	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	219					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TGGGTCAGTGGGGGCCTCACC	0.582											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	130	---	---	---	---	0	0
CARD18	59082	broad.mit.edu	37	11	105009575	105009575	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:105009575C>A	ENST00000530950.1	-	2	237	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	CARD18_ENST00000532895.1_Missense_Mutation_p.D41Y|CARD18_ENST00000526823.1_Missense_Mutation_p.D41Y	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	80	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						AGTTGAGGGTCTTCTTCACAG	0.408													24	179	---	---	---	---	0	0
EI24	9538	broad.mit.edu	37	11	125450015	125450015	+	Silent	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:125450015C>A	ENST00000278903.6	+	8	830	c.588C>A	c.(586-588)atC>atA	p.I196I	EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_Silent_p.I196I|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	196			I -> D (in some patients with early onset breast cancer; requires 2 nucleotide substitutions).		apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCTTTCCCATCCATCTTGTCG	0.423													104	179	---	---	---	---	0	0
SEMA6D	80031	broad.mit.edu	37	15	48058097	48058097	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr15:48058097G>T	ENST00000316364.5	+	14	1898	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F	SEMA6D_ENST00000389433.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V487F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	487	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGACAAAAAGGTCATCTCATT	0.428													28	50	---	---	---	---	0	0
CDH8	1006	broad.mit.edu	37	16	61891049	61891049	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr16:61891049G>T	ENST00000577390.1	-	4	1595	c.641C>A	c.(640-642)cCt>cAt	p.P214H	CDH8_ENST00000584337.1_Missense_Mutation_p.P214H|CDH8_ENST00000299345.6_Missense_Mutation_p.P214H|CDH8_ENST00000577730.1_Missense_Mutation_p.P214H	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	214	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGAAAAATAAGGCTGCCCTTC	0.403													8	43	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:7578555C>T	ENST00000420246.2	-	5	508		c.e5-1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGAGTACTGTAGGAAGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	6	---	---	---	---	0	0
SLC5A10	125206	broad.mit.edu	37	17	18863892	18863892	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:18863892G>A	ENST00000317977.6	+	5	783	c.212G>A	c.(211-213)cGc>cAc	p.R71H	SLC5A10_ENST00000395645.3_Missense_Mutation_p.R127H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R71H	NM_001282417.1	NP_001269346.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	127					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ATTCAGAAGCGCTACGGGGGC	0.607											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	248	---	---	---	---	0	0
AOC2	314	broad.mit.edu	37	17	41002342	41002342	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:41002342C>A	ENST00000253799.3	+	4	2275	c.2248C>A	c.(2248-2250)Cct>Act	p.P750T	AOC2_ENST00000452774.2_Missense_Mutation_p.P723T	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	750					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTTACCCCCTTTCTCTTA	0.557													5	255	---	---	---	---	0	0
FASN	2194	broad.mit.edu	37	17	80046850	80046850	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:80046850G>T	ENST00000306749.2	-	14	2517	c.2299C>A	c.(2299-2301)Ctg>Atg	p.L767M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	767	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCTACCTGCAGCAGGGCGTGG	0.697													7	9	---	---	---	---	0	0
ROCK1	6093	broad.mit.edu	37	18	18625328	18625328	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr18:18625328T>C	ENST00000399799.2	-	5	1455	c.515A>G	c.(514-516)gAa>gGa	p.E172G		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGCCCATTTTTCAGGCACATC	0.368													8	5	---	---	---	---	0	0
PSG4	5672	broad.mit.edu	37	19	43708257	43708257	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:43708257G>T	ENST00000405312.3	-	2	448	c.211C>A	c.(211-213)Caa>Aaa	p.Q71K	PSG4_ENST00000244295.9_Missense_Mutation_p.Q71K|PSG4_ENST00000433626.2_Missense_Mutation_p.Q71K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	71	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TATGTCATTTGCCCTTTGTAC	0.418													73	144	---	---	---	---	0	0
DIP2A	23181	broad.mit.edu	37	21	47971767	47971767	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr21:47971767C>T	ENST00000318711.7	+	25	3166	c.2983C>T	c.(2983-2985)Cgt>Tgt	p.R995C	DIP2A_ENST00000417564.2_Missense_Mutation_p.R994C|DIP2A_ENST00000427143.2_Missense_Mutation_p.R930C|DIP2A_ENST00000400274.1_Missense_Mutation_p.R990C	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	994					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCTGCAGTGGCGTGCCCACAC	0.662													5	25	---	---	---	---	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766321	27766321	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chrX:27766321C>A	ENST00000451261.2	+	5	1708	c.1309C>A	c.(1309-1311)Ctg>Atg	p.L437M		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGGCACAGAGCTGCTAGCCAG	0.428													3	42	---	---	---	---	0	0
SGIP1	84251	broad.mit.edu	37	1	67147853	67147853	+	Silent	SNP	G	G	A	rs139355833		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:67147853G>A	ENST00000371037.4	+	15	1193	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S	SGIP1_ENST00000237247.6_Silent_p.S376S|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	372	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATGTACTATCGCCGCTCAATT	0.542													4	147	---	---	---	---	0	0
NTNG1	22854	broad.mit.edu	37	1	108023234	108023234	+	Splice_Site	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:108023234G>A	ENST00000370067.1	+	7	1782	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A	NTNG1_ENST00000370065.1_Splice_Site_p.A419A|NTNG1_ENST00000542803.1_Splice_Site_p.P464P|NTNG1_ENST00000370071.2_Splice_Site_p.A405A|NTNG1_ENST00000370061.3_Splice_Site_p.P430P|NTNG1_ENST00000370073.2_Splice_Site_p.P464P|NTNG1_ENST00000370068.1_Splice_Site_p.P464P|NTNG1_ENST00000370072.3_Splice_Site_p.A419A|NTNG1_ENST00000370070.2_Splice_Site_p.A385A|NTNG1_ENST00000370066.1_Splice_Site_p.A405A|NTNG1_ENST00000370074.4_Splice_Site_p.T363T			Q9Y2I2	NTNG1_HUMAN	netrin G1	393	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATTCTGCAGCGAATGTCTGCG	0.572													10	34	---	---	---	---	0	0
MLK4	0	broad.mit.edu	37	1	233518097	233518097	+	Silent	SNP	C	C	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:233518097C>G	ENST00000366624.3	+	10	3012	c.2751C>G	c.(2749-2751)ctC>ctG	p.L917L	MLK4_ENST00000366622.1_Silent_p.L363L	NM_032435.2	NP_115811.2																					CACTGCCACTCTGCCCCTCAC	0.532													3	113	---	---	---	---	0	0
EFHD1	80303	broad.mit.edu	37	2	233546303	233546303	+	Silent	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:233546303C>T	ENST00000264059.3	+	4	1071	c.594C>T	c.(592-594)gcC>gcT	p.A198A	EFHD1_ENST00000409708.1_Silent_p.A86A|EFHD1_ENST00000409613.1_Silent_p.A102A|EFHD1_ENST00000410095.1_Silent_p.A86A	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	198							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGGTCCAAGCCTTGTCATCGG	0.572													79	130	---	---	---	---	0	0
TRIM42	287015	broad.mit.edu	37	3	140406902	140406902	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:140406902A>G	ENST00000286349.3	+	3	1569	c.1378A>G	c.(1378-1380)Acc>Gcc	p.T460A		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	460	COS.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATCCAGACCACCTACAGGCC	0.577													6	52	---	---	---	---	0	0
DLG1	1739	broad.mit.edu	37	3	196867046	196867046	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:196867046G>C	ENST00000346964.2	-	9	966	c.777C>G	c.(775-777)atC>atG	p.I259M	DLG1_ENST00000450955.1_Missense_Mutation_p.I226M|DLG1_ENST00000419354.1_Missense_Mutation_p.I259M|DLG1_ENST00000392382.2_Missense_Mutation_p.I226M|DLG1_ENST00000422288.1_Missense_Mutation_p.I208M|DLG1_ENST00000448528.2_Missense_Mutation_p.I259M|DLG1_ENST00000357674.4_Missense_Mutation_p.I226M|DLG1_ENST00000443183.1_Missense_Mutation_p.I143M|DLG1_ENST00000452595.1_Missense_Mutation_p.I143M|DLG1_ENST00000314062.3_Missense_Mutation_p.I208M	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	259	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTCCCCCTGTGATAATTTTGG	0.443													3	148	---	---	---	---	0	0
TNPO1	3842	broad.mit.edu	37	5	72195834	72195834	+	Splice_Site	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:72195834A>G	ENST00000337273.5	+	21	2766	c.2340A>G	c.(2338-2340)gcA>gcG	p.A780A	TNPO1_ENST00000454282.1_Splice_Site_p.A730A|TNPO1_ENST00000506351.2_Splice_Site_p.A772A|TNPO1_ENST00000523768.1_Splice_Site_p.A730A	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	780					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TTACCTTAGCAATAACAATTG	0.398													41	69	---	---	---	---	0	0
DCP2	167227	broad.mit.edu	37	5	112343668	112343668	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:112343668T>C	ENST00000389063.2	+	9	1174	c.976T>C	c.(976-978)Tat>Cat	p.Y326H	DCP2_ENST00000543319.1_Missense_Mutation_p.Y115H|DCP2_ENST00000515408.1_Intron	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	326					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAGAAAACAGTATCAAGATTC	0.343													28	41	---	---	---	---	0	0
PCDHB13	0	broad.mit.edu	37	5	140595972	140595972	+	Silent	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:140595972A>G	ENST00000341948.4	+	1	2464	c.2277A>G	c.(2275-2277)tcA>tcG	p.S759S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		759					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGAGGCTCAGGGACCAATG	0.552													3	127	---	---	---	---	0	0
LGSN	51557	broad.mit.edu	37	6	63995626	63995626	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr6:63995626G>T	ENST00000370658.5	-	3	229	c.196C>A	c.(196-198)Cca>Aca	p.P66T	LGSN_ENST00000370657.4_Missense_Mutation_p.P66T	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	66					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AGTTGAGGTGGGGTCAAAATT	0.438													3	65	---	---	---	---	0	0
ANKIB1	54467	broad.mit.edu	37	7	92020490	92020490	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr7:92020490A>G	ENST00000265742.3	+	16	2439	c.2063A>G	c.(2062-2064)gAa>gGa	p.E688G		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	688							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGACCTAGAAATGGTCACT	0.428													14	87	---	---	---	---	0	0
MMP16	4325	broad.mit.edu	37	8	89058941	89058941	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr8:89058941C>T	ENST00000286614.6	-	9	1726	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	482	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTCAGGGATCCCTTTCCAGAC	0.373													7	75	---	---	---	---	0	0
PTEN	5728	broad.mit.edu	37	10	89692849	89692849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr10:89692849G>A	ENST00000371953.3	+	5	1690	c.333G>A	c.(331-333)tgG>tgA	p.W111*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	111	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGACCAATGGCTAAGTGAAG	0.393		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			19	86	---	---	---	---	0	0
OR5L2	26338	broad.mit.edu	37	11	55594795	55594795	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:55594795T>C	ENST00000378397.1	+	1	101	c.101T>C	c.(100-102)aTc>aCc	p.I34T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCCTTCTCATCTATGGAGTC	0.517										HNSCC(27;0.073)			37	291	---	---	---	---	0	0
RELA	5970	broad.mit.edu	37	11	65423213	65423213	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:65423213G>A	ENST00000525693.1	-	10	1041	c.979C>T	c.(979-981)Cca>Tca	p.P327S	RELA_ENST00000406246.3_Missense_Mutation_p.P327S|RELA_ENST00000308639.9_Missense_Mutation_p.P324S			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	327					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CGTCGAGGTGGAGGCCGGGGG	0.622													27	34	---	---	---	---	0	0
SCN3B	55800	broad.mit.edu	37	11	123516294	123516294	+	Splice_Site	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:123516294C>T	ENST00000392770.2	-	2	1022		c.e2+1		SCN3B_ENST00000530277.1_Splice_Site|SCN3B_ENST00000299333.3_Splice_Site	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit						axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GTCTAACATACAAGGAAATCT	0.572													48	89	---	---	---	---	0	0
CAPNS1	826	broad.mit.edu	37	19	36636739	36636739	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:36636739A>C	ENST00000246533.3	+	7	1086	c.488A>C	c.(487-489)gAa>gCa	p.E163A	CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E173A|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Missense_Mutation_p.E133A|CAPNS1_ENST00000588815.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E163A	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	163	EF-hand 2.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCTTTGAGGAATTCAAGTAC	0.532													38	69	---	---	---	---	0	0
NUMBL	9253	broad.mit.edu	37	19	41174032	41174032	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:41174032A>G	ENST00000252891.4	-	10	1338	c.1171T>C	c.(1171-1173)Tgg>Cgg	p.W391R	NUMBL_ENST00000540131.1_Missense_Mutation_p.W350R|NUMBL_ENST00000598779.1_Missense_Mutation_p.W350R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	391					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GGCTCACCCCAGGCAGAAGTC	0.652													2	12	---	---	---	---	0	0
FPR2	2358	broad.mit.edu	37	19	52272719	52272719	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:52272719G>A	ENST00000598776.1	+	2	1580	c.808G>A	c.(808-810)Gag>Aag	p.E270K	FPR2_ENST00000340023.6_Missense_Mutation_p.E270K|FPR2_ENST00000598953.1_Missense_Mutation_p.E270K	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	270					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTGGCTCAAAGAGATGTTGTT	0.512													20	32	---	---	---	---	0	0
SLC37A1	54020	broad.mit.edu	37	21	43967227	43967227	+	Silent	SNP	A	A	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:43967227A>C	ENST00000352133.2	+	9	1727	c.745A>C	c.(745-747)Agg>Cgg	p.R249R	SLC37A1_ENST00000398341.3_Silent_p.R249R			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	249					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GAACGACGTCAGGTGCTCCTC	0.552													27	118	---	---	---	---	0	0
PHKA1	5255	broad.mit.edu	37	X	71840634	71840634	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:71840634A>T	ENST00000339490.3	-	19	2378	c.2078T>A	c.(2077-2079)gTg>gAg	p.V693E	PHKA1_ENST00000373542.4_Missense_Mutation_p.V693E|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.V693E	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	693					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGTTGTTTGCACAGCAGCTTG	0.517													4	45	---	---	---	---	0	0
GPR50	9248	broad.mit.edu	37	X	150348881	150348881	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:150348881T>C	ENST00000218316.3	+	2	895	c.826T>C	c.(826-828)Tat>Cat	p.Y276H		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	276					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTGGCTTTATCTTGCAGC	0.512													4	83	---	---	---	---	0	0
RNF181	51255	broad.mit.edu	37	2	85822908	85822908	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr2:85822908C>T	ENST00000441634.1	+	1	61	c.22C>T	c.(22-24)Cac>Tac	p.H8Y	RNF181_ENST00000306368.4_Missense_Mutation_p.H8Y			Q9P0P0	RN181_HUMAN	ring finger protein 181	8							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						TTTCGATGAACACGACTGCGA	0.632													3	32	---	---	---	---	0	0
CHL1	10752	broad.mit.edu	37	3	432831	432831	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:432831C>T	ENST00000256509.2	+	22	3422	c.2780C>T	c.(2779-2781)aCa>aTa	p.T927I	CHL1_ENST00000397491.2_Missense_Mutation_p.T911I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	911	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATATTTCAAACACCAGAAGGA	0.408													7	60	---	---	---	---	0	0
C3orf62	375341	broad.mit.edu	37	3	49313859	49313859	+	Splice_Site	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:49313859C>A	ENST00000343010.3	-	1	1483		c.e1+1			NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62											breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATTAGAATCACCTTAAATTTT	0.383													5	64	---	---	---	---	0	0
VGLL3	389136	broad.mit.edu	37	3	87018023	87018023	+	Silent	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:87018023G>A	ENST00000398399.2	-	3	1017	c.654C>T	c.(652-654)tcC>tcT	p.S218S	VGLL3_ENST00000383698.3_Silent_p.S218S	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TATGGCTGTAGGATGGGCTCA	0.607													34	95	---	---	---	---	0	0
ZBTB11	27107	broad.mit.edu	37	3	101383903	101383903	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:101383903G>A	ENST00000312938.4	-	4	2108	c.1528C>T	c.(1528-1530)Cgt>Tgt	p.R510C		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTAACAGAACGTTGTCGAAGC	0.428													9	119	---	---	---	---	0	0
IQCB1	9657	broad.mit.edu	37	3	121500652	121500652	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:121500652G>C	ENST00000310864.6	-	13	1562	c.1348C>G	c.(1348-1350)Ctc>Gtc	p.L450V	IQCB1_ENST00000349820.6_Missense_Mutation_p.L317V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	450					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GCATCAGTGAGTTCTTGGAGT	0.403													3	67	---	---	---	---	0	0
WDR49	151790	broad.mit.edu	37	3	167319938	167319938	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:167319938G>T	ENST00000308378.3	-	3	534	c.229C>A	c.(229-231)Ctt>Att	p.L77I	WDR49_ENST00000479765.1_Missense_Mutation_p.L418I|WDR49_ENST00000453925.2_Missense_Mutation_p.L130I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	77										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAGCTGAAAAGTTGTTTTCTT	0.408													26	83	---	---	---	---	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	rs121913286		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	62	---	---	---	---	0	0
GRM4	2914	broad.mit.edu	37	6	34003799	34003799	+	Silent	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr6:34003799G>A	ENST00000538487.2	-	9	2531	c.2088C>T	c.(2086-2088)ccC>ccT	p.P696P	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.P696P|GRM4_ENST00000609222.1_Silent_p.P563P|GRM4_ENST00000455714.2_Silent_p.P556P|GRM4_ENST00000374177.3_Silent_p.P580P|GRM4_ENST00000535756.1_Silent_p.P563P|GRM4_ENST00000544773.2_Silent_p.P527P	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.A697fs*126(2)|p.A581fs*126(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCTGTGAGGCGGGGCTGATGA	0.617													6	133	---	---	---	---	0	0
SIM1	6492	broad.mit.edu	37	6	100841376	100841376	+	Silent	SNP	G	G	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr6:100841376G>T	ENST00000369208.3	-	11	2339	c.1557C>A	c.(1555-1557)gtC>gtA	p.V519V	SIM1_ENST00000262901.4_Silent_p.V519V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	519	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGATCCTGTGGACTGAAGCGA	0.552													10	94	---	---	---	---	0	0
NPVF	64111	broad.mit.edu	37	7	25264785	25264785	+	Silent	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr7:25264785G>A	ENST00000222674.2	-	3	593	c.547C>T	c.(547-549)Cta>Tta	p.L183L		NM_022150.3	NP_071433	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	183					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TTCTTGAATAGCAGTCTCCTA	0.378													14	46	---	---	---	---	0	0
KAT6B	23522	broad.mit.edu	37	10	76788961	76788961	+	Nonsense_Mutation	SNP	T	T	G			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr10:76788961T>G	ENST00000287239.4	+	18	4868	c.4379T>G	c.(4378-4380)tTa>tGa	p.L1460*	KAT6B_ENST00000372714.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.L1277*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1460					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GAGACTTTTTTAGACCTTAAT	0.507													3	51	---	---	---	---	0	0
DMBT1	1755	broad.mit.edu	37	10	124392786	124392786	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr10:124392786C>A	ENST00000338354.3	+	49	6196	c.6090C>A	c.(6088-6090)aaC>aaA	p.N2030K	DMBT1_ENST00000330163.4_Missense_Mutation_p.N1402K|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2030K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1402K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N750K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2030	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACTATCCAAACAATGCCAAGT	0.498													6	113	---	---	---	---	0	0
STX3	6809	broad.mit.edu	37	11	59559664	59559664	+	Silent	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:59559664C>A	ENST00000535361.1	+	6	989	c.442C>A	c.(442-444)Cga>Aga	p.R148R	STX3_ENST00000337979.4_Silent_p.R148R|STX3_ENST00000300150.7_Silent_p.R117R|STX3_ENST00000437946.2_Silent_p.R51R|STX3_ENST00000529177.1_Silent_p.R148R			Q13277	STX3_HUMAN	syntaxin 3	148					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CAGCAAAGGGCGAATCCAGCG	0.512													3	52	---	---	---	---	0	0
P4HA3	283208	broad.mit.edu	37	11	74015374	74015374	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:74015374C>A	ENST00000331597.4	-	2	329	c.284G>T	c.(283-285)cGc>cTc	p.R95L	P4HA3_ENST00000427714.2_Missense_Mutation_p.R95L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	95						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					AGACTGCAGGCGTTTGATGAG	0.478													7	196	---	---	---	---	0	0
LRRC32	2615	broad.mit.edu	37	11	76371902	76371902	+	Silent	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:76371902G>A	ENST00000407242.2	-	3	977	c.735C>T	c.(733-735)ctC>ctT	p.L245L	LRRC32_ENST00000404995.1_Silent_p.L245L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L245L|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	245						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAAGCCAGGTGAGCTGGAACT	0.612													34	49	---	---	---	---	0	0
GRM5	2915	broad.mit.edu	37	11	88780467	88780467	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:88780467C>A	ENST00000418177.2	-	2	941	c.574G>T	c.(574-576)Gtg>Ttg	p.V192L	GRM5_ENST00000455756.2_Missense_Mutation_p.V192L|GRM5_ENST00000393297.1_Missense_Mutation_p.V192L|GRM5_ENST00000393294.3_Missense_Mutation_p.V192L|GRM5_ENST00000305447.4_Missense_Mutation_p.V192L|GRM5_ENST00000305432.5_Missense_Mutation_p.V192L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	192					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTGAAGGCACAACCCTCATG	0.463													12	93	---	---	---	---	0	0
HSPA8	3312	broad.mit.edu	37	11	122928986	122928986	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:122928986T>C	ENST00000534624.1	-	8	2005	c.1729A>G	c.(1729-1731)Att>Gtt	p.I577V	HSPA8_ENST00000533540.1_Missense_Mutation_p.I431V|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.I577V|HSPA8_ENST00000526110.1_Missense_Mutation_p.I558V|HSPA8_ENST00000534319.1_Missense_Mutation_p.I341V|HSPA8_ENST00000532636.1_Missense_Mutation_p.I577V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	577					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAGTTGATAATTTCATTACAC	0.393													24	50	---	---	---	---	0	0
DDN	23109	broad.mit.edu	37	12	49391665	49391665	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:49391665G>A	ENST00000421952.2	-	2	1015	c.994C>T	c.(994-996)Cat>Tat	p.H332Y		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	332						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GCTTGGGGATGGCTGTCGCTA	0.662													33	118	---	---	---	---	0	0
FBXW8	26259	broad.mit.edu	37	12	117465848	117465848	+	Silent	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:117465848C>A	ENST00000455858.2	+	11	1543	c.1470C>A	c.(1468-1470)atC>atA	p.I490I	FBXW8_ENST00000309909.5_Silent_p.I556I	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	556							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GGGGGCTGATCCGCGCCTATG	0.622													3	55	---	---	---	---	0	0
CPPED1	55313	broad.mit.edu	37	16	12798661	12798661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:12798661G>A	ENST00000381774.4	-	3	775	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	179							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TCCTGAGCCTGCTTCAGGCTG	0.612													21	55	---	---	---	---	0	0
CPPED1	55313	broad.mit.edu	37	16	12798662	12798662	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:12798662C>A	ENST00000381774.4	-	3	774	c.534G>T	c.(532-534)aaG>aaT	p.K178N	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	178							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CCTGAGCCTGCTTCAGGCTGG	0.612													20	55	---	---	---	---	0	0
SULT1A1	6817	broad.mit.edu	37	16	28631396	28631396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:28631396C>T	ENST00000350842.4	-	2	514	c.126G>A	c.(124-126)tgG>tgA	p.W42*	SULT1A1_ENST00000395609.1_5'UTR	NM_177536.3	NP_803880.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	0					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TATAGGTGTTCCAGAATTTCT	0.328													4	48	---	---	---	---	0	0
FOXC2	2303	broad.mit.edu	37	16	86602380	86602380	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:86602380C>G	ENST00000320354.4	+	1	1524	c.1439C>G	c.(1438-1440)cCc>cGc	p.P480R		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	480					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TGCCAGCTGCCCTACAGATCC	0.647									Late-onset Hereditary Lymphedema				3	82	---	---	---	---	0	0
MYH8	4626	broad.mit.edu	37	17	10296220	10296220	+	Silent	SNP	C	C	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:10296220C>T	ENST00000403437.2	-	37	5485	c.5391G>A	c.(5389-5391)caG>caA	p.Q1797Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1797					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTAGACGATGCTGCAGGTCCT	0.577									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	131	---	---	---	---	0	0
MYH4	4622	broad.mit.edu	37	17	10357986	10357986	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:10357986T>G	ENST00000255381.2	-	22	2687	c.2577A>C	c.(2575-2577)gaA>gaC	p.E859D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	859					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTTCTCAAATTCTTCCTTCA	0.433													4	102	---	---	---	---	0	0
UNC45B	146862	broad.mit.edu	37	17	33495343	33495343	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:33495343C>A	ENST00000268876.5	+	10	1512	c.1415C>A	c.(1414-1416)aCc>aAc	p.T472N	UNC45B_ENST00000378449.1_Missense_Mutation_p.T472N|UNC45B_ENST00000591048.1_Missense_Mutation_p.T472N|UNC45B_ENST00000433649.1_Missense_Mutation_p.T472N|UNC45B_ENST00000394570.2_Missense_Mutation_p.T472N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	472					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATCTACAAGACCACCAAAAAT	0.567													5	68	---	---	---	---	0	0
HLF	3131	broad.mit.edu	37	17	53392674	53392674	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:53392674G>C	ENST00000226067.5	+	3	1011	c.538G>C	c.(538-540)Gca>Cca	p.A180P	HLF_ENST00000575345.1_Missense_Mutation_p.A95P|HLF_ENST00000573945.1_Missense_Mutation_p.A95P|HLF_ENST00000430986.2_Missense_Mutation_p.A95P	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	180	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						GCCAGACCCAGCAGATCTTGC	0.527			T	TCF3	ALL								27	78	---	---	---	---	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388640	46388640	+	Silent	SNP	A	A	G			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:46388640A>G	ENST00000302165.3	-	1	736	c.393T>C	c.(391-393)acT>acC	p.T131T		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGGACCCCAGAGTGTACTCCA	0.721													3	33	---	---	---	---	0	0
MOSPD2	158747	broad.mit.edu	37	X	14932667	14932667	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chrX:14932667G>T	ENST00000380492.3	+	11	1123	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.E345D	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	345	MSP.					integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AATCCGGAGAGAAGAAAACCT	0.299													3	40	---	---	---	---	0	0
PHF8	23133	broad.mit.edu	37	X	54029074	54029074	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chrX:54029074A>C	ENST00000338154.6	-	9	1492	c.988T>G	c.(988-990)Ttt>Gtt	p.F330V	PHF8_ENST00000338946.6_Missense_Mutation_p.F330V|PHF8_ENST00000357988.5_Missense_Mutation_p.F366V|PHF8_ENST00000322659.8_Missense_Mutation_p.F330V	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	366	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TTCCCTCCAAAGGCAAGGCAG	0.488													3	26	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158637824	158637824	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:158637824T>A	ENST00000368147.4	-	15	2042	c.1862A>T	c.(1861-1863)cAa>cTa	p.Q621L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGCTGCTTTTGAACCCTGCT	0.388													4	189	---	---	---	---	0	0
BUB1	699	broad.mit.edu	37	2	111416223	111416223	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:111416223G>T	ENST00000535254.1	-	11	1380	c.1313C>A	c.(1312-1314)cCa>cAa	p.P438Q	BUB1_ENST00000302759.6_Missense_Mutation_p.P458Q|BUB1_ENST00000409311.1_Missense_Mutation_p.P458Q	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	458					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGTGGGTGATGGCTGCACTTT	0.433													4	81	---	---	---	---	0	0
RFTN1	23180	broad.mit.edu	37	3	16364942	16364942	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:16364942G>C	ENST00000334133.4	-	9	1545	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q389E	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	425						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAGACAATCTGCTTGGTGGAT	0.473													14	52	---	---	---	---	0	0
VIPR1	7433	broad.mit.edu	37	3	42567412	42567412	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:42567412G>T	ENST00000433647.1	+	5	827	c.203G>T	c.(202-204)gGc>gTc	p.G68V	VIPR1_ENST00000438259.2_5'UTR|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000325123.4_Missense_Mutation_p.G109V|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.G62V|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	109					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACCGACGAAGGCTGGACGCAC	0.647													3	36	---	---	---	---	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125824617	125824617	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:125824617C>G	ENST00000393434.2	-	22	2954	c.2605G>C	c.(2605-2607)Gcc>Ccc	p.A869P	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A869P|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A768P|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A879P	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	869	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGGGAGCGGCCACGTCGGTC	0.488													40	125	---	---	---	---	0	0
AHSG	197	broad.mit.edu	37	3	186338454	186338454	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:186338454C>T	ENST00000411641.2	+	7	1058	c.839C>T	c.(838-840)tCc>tTc	p.S280F	AHSG_ENST00000273784.5_Missense_Mutation_p.S281F			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	280					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCACCTCCGTCCCCTCCACTT	0.627													43	163	---	---	---	---	0	0
CCNG2	901	broad.mit.edu	37	4	78082099	78082099	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr4:78082099A>G	ENST00000316355.5	+	4	858	c.502A>G	c.(502-504)Att>Gtt	p.I168V	CCNG2_ENST00000502280.1_Missense_Mutation_p.I168V|CCNG2_ENST00000509972.1_Missense_Mutation_p.I168V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.I168V|CCNG2_ENST00000354403.5_Missense_Mutation_p.I168V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	168					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ATACCATACTATTATACTTTG	0.313													9	48	---	---	---	---	0	0
TRPC7	57113	broad.mit.edu	37	5	135692511	135692511	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr5:135692511G>A	ENST00000513104.1	-	2	847	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	TRPC7_ENST00000426057.2_Missense_Mutation_p.R189C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R189C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	189					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCTCGATGCGGGCGCCCTTG	0.622													24	94	---	---	---	---	0	0
TRIM10	10107	broad.mit.edu	37	6	30121516	30121516	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:30121516G>A	ENST00000376704.3	-	8	1212	c.1137C>T	c.(1135-1137)tgC>tgT	p.C379C	TRIM10_ENST00000449742.2_3'UTR	NM_052828.2	NP_439893.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	0	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						AGAACTGGCAGCAGCCTGAGT	0.547													3	44	---	---	---	---	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846113	47846113	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:47846113C>T	ENST00000339488.4	-	3	2500	c.2467G>A	c.(2467-2469)Gcc>Acc	p.A823T		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	823						integral to membrane	hedgehog receptor activity										TTTCGCTTGGCACGTTTCTTT	0.438													26	67	---	---	---	---	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100014780	100014780	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr7:100014780C>G	ENST00000398027.2	-	6	635	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E130Q	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	130							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAAGAAGTCTCTGCAAAATCA	0.413													20	57	---	---	---	---	0	0
CCSER2	54462	broad.mit.edu	37	10	86132184	86132184	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr10:86132184C>G	ENST00000224756.8	+	2	1561	c.1376C>G	c.(1375-1377)gCc>gGc	p.A459G	CCSER2_ENST00000359979.4_Missense_Mutation_p.A459G|CCSER2_ENST00000372088.2_Missense_Mutation_p.A459G	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2			coiled-coil serine-rich protein 2																		AATGAAAAAGCCTTCAGTAAA	0.328													5	97	---	---	---	---	0	0
EXT2	2132	broad.mit.edu	37	11	44151632	44151632	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:44151632G>A	ENST00000395673.3	+	7	1272	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	EXT2_ENST00000358681.4_Missense_Mutation_p.V373M|EXT2_ENST00000343631.3_Missense_Mutation_p.V373M|EXT2_ENST00000533608.1_Missense_Mutation_p.V373M	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	373					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GATGTCAGATGTGTACAGTAT	0.453			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				23	53	---	---	---	---	0	0
GAB2	9846	broad.mit.edu	37	11	77961404	77961404	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:77961404G>A	ENST00000361507.4	-	3	504	c.419C>T	c.(418-420)tCt>tTt	p.S140F	GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Missense_Mutation_p.S102F	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	140					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AGCTGGAGAAGAGCGGGGGCC	0.517													28	62	---	---	---	---	0	0
DDX47	51202	broad.mit.edu	37	12	12974651	12974651	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:12974651A>G	ENST00000358007.3	+	4	455	c.433A>G	c.(433-435)Ata>Gta	p.I145V	DDX47_ENST00000352940.4_Missense_Mutation_p.I145V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	145	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AAAACCACATATAATAATAGG	0.358													12	42	---	---	---	---	0	0
ZIC5	85416	broad.mit.edu	37	13	100622586	100622586	+	Silent	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr13:100622586C>T	ENST00000267294.4	-	1	1577	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	448					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCCACGTGCTCCACCGTGA	0.677													16	39	---	---	---	---	0	0
GZMB	3002	broad.mit.edu	37	14	25101106	25101106	+	Silent	SNP	C	C	T	rs150419134	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:25101106C>T	ENST00000216341.4	-	4	664	c.558G>A	c.(556-558)gaG>gaA	p.E186E	GZMB_ENST00000415355.3_Silent_p.E174E|GZMB_ENST00000382542.1_Silent_p.E220E|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000382540.1_Silent_p.E141E			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	186	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CCACGCACAACTCAATGGTAC	0.453													25	122	---	---	---	---	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256863	69256863	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:69256863C>A	ENST00000439696.2	-	2	705	c.404G>T	c.(403-405)tGc>tTc	p.C135F	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C135F	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	135					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCGAACTGGCACTTGTCCCC	0.642											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	159	---	---	---	---	0	0
LRRC49	54839	broad.mit.edu	37	15	71185232	71185232	+	Translation_Start_Site	SNP	T	T	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:71185232T>G	ENST00000443425.2	+	0	62				LRRC49_ENST00000260382.5_De_novo_Start_InFrame|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_De_novo_Start_InFrame	NM_001199018.1	NP_001185947.1	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49							cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTGTCTCCTATCATGATTCCC	0.512											OREG0023244	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	101	---	---	---	---	0	0
TTLL6	284076	broad.mit.edu	37	17	46863542	46863542	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr17:46863542G>A	ENST00000393382.3	-	12	1886	c.1745C>T	c.(1744-1746)aCc>aTc	p.T582I	TTLL6_ENST00000433608.2_Missense_Mutation_p.T275I	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	534						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGAGGCTTGGGTGGCGGCCTT	0.577													13	530	---	---	---	---	0	0
UHRF1	29128	broad.mit.edu	37	19	4930834	4930834	+	RNA	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:4930834C>G	ENST00000592666.1	+	0	1091							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCTGCAGCTCCACGTCCAGG	0.647													29	82	---	---	---	---	0	0
ZNF473	25888	broad.mit.edu	37	19	50548980	50548980	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:50548980G>T	ENST00000595661.1	+	6	1775	c.1280G>T	c.(1279-1281)gGa>gTa	p.G427V	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.G427V|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.G415V|ZNF473_ENST00000391821.2_Missense_Mutation_p.G427V			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	427	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTTCACAGTGGAGAGAAGCCT	0.493													5	71	---	---	---	---	0	0
FPR2	2358	broad.mit.edu	37	19	52272405	52272405	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:52272405C>A	ENST00000598776.1	+	2	1266	c.494C>A	c.(493-495)aCt>aAt	p.T165N	FPR2_ENST00000598953.1_Missense_Mutation_p.T165N|FPR2_ENST00000340023.6_Missense_Mutation_p.T165N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	165					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCTTTTTGACTACAGTAACT	0.512													3	108	---	---	---	---	0	0
VPS16	64601	broad.mit.edu	37	20	2846119	2846119	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr20:2846119A>G	ENST00000380445.3	+	22	2321	c.2249A>G	c.(2248-2250)aAg>aGg	p.K750R	PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380469.3_Missense_Mutation_p.K606R|VPS16_ENST00000380443.3_Missense_Mutation_p.K436R	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	750					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TCCAAGAGCAAGAAATCACCC	0.562													14	34	---	---	---	---	0	0
SUSD2	56241	broad.mit.edu	37	22	24581635	24581635	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr22:24581635G>A	ENST00000358321.3	+	8	1338	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	359	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCAGCCTCCGGTACGGCTCAG	0.697													10	24	---	---	---	---	0	0
STAG2	10735	broad.mit.edu	37	X	123179182	123179182	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:123179182C>G	ENST00000371160.1	+	8	921	c.631C>G	c.(631-633)Caa>Gaa	p.Q211E	STAG2_ENST00000371157.3_Missense_Mutation_p.Q211E|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.Q142E|STAG2_ENST00000371144.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371145.3_Missense_Mutation_p.Q211E|STAG2_ENST00000218089.9_Missense_Mutation_p.Q211E	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	211					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTCTGACTCACAAGTCAGAGC	0.353													3	142	---	---	---	---	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869994	151869994	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:151869994A>C	ENST00000329342.5	+	3	909	c.684A>C	c.(682-684)ttA>ttC	p.L228F		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	228	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTGTGTTAGAGGTGTTTG	0.527													14	140	---	---	---	---	0	0
F8	2157	broad.mit.edu	37	X	154182174	154182174	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:154182174G>A	ENST00000360256.4	-	12	2096	c.1896C>T	c.(1894-1896)atC>atT	p.I632I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	632	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTGTGCATGATGTTGGAGG	0.433													8	142	---	---	---	---	0	0
AMPD2	271	broad.mit.edu	37	1	110171852	110171852	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:110171852G>C	ENST00000256578.3	+	13	2215	c.1855G>C	c.(1855-1857)Gag>Cag	p.E619Q	AMPD2_ENST00000528667.1_Missense_Mutation_p.E619Q|AMPD2_ENST00000528454.1_Missense_Mutation_p.E501Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.E500Q|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.E538Q|AMPD2_ENST00000358729.4_Missense_Mutation_p.E544Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	619					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTCTTCTTAGAGCACGTGAG	0.607													3	62	---	---	---	---	0	0
TP53BP2	7159	broad.mit.edu	37	1	223986246	223986246	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:223986246G>A	ENST00000391878.2	-	13	2000	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000343537.7_Missense_Mutation_p.S540L	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	534					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AACAACTGTTGACAACTGCTG	0.478													4	108	---	---	---	---	0	0
NMS	129521	broad.mit.edu	37	2	101087006	101087006	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:101087006T>C	ENST00000376865.1	+	1	63	c.56T>C	c.(55-57)aTg>aCg	p.M19T		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	19					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TGCTTCTGCATGCTACAGATT	0.537													12	145	---	---	---	---	0	0
DNER	92737	broad.mit.edu	37	2	230456358	230456358	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:230456358G>T	ENST00000341772.4	-	2	657	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	175					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGGTAGGCAGTGTCACCGTT	0.502													3	80	---	---	---	---	0	0
GPR128	84873	broad.mit.edu	37	3	100348538	100348538	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr3:100348538G>T	ENST00000273352.3	+	2	480	c.212G>T	c.(211-213)gGa>gTa	p.G71V		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	71					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAGTGGAAAGGACTGAGATGT	0.388													4	105	---	---	---	---	0	0
LYAR	55646	broad.mit.edu	37	4	4281393	4281393	+	Silent	SNP	A	A	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:4281393A>T	ENST00000343470.4	-	5	561	c.321T>A	c.(319-321)gtT>gtA	p.V107V	LYAR_ENST00000452476.1_Silent_p.V107V	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	107						nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTTCCTGGGAACGTTGTCAA	0.418													11	45	---	---	---	---	0	0
WFS1	7466	broad.mit.edu	37	4	6302431	6302431	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:6302431G>A	ENST00000226760.1	+	8	1079	c.909G>A	c.(907-909)ctG>ctA	p.L303L	WFS1_ENST00000503569.1_Silent_p.L303L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	303					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGAGTACCTGATTGACATGG	0.582													23	48	---	---	---	---	0	0
NDST4	64579	broad.mit.edu	37	4	115997743	115997743	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:115997743T>G	ENST00000264363.2	-	2	1128	c.450A>C	c.(448-450)ttA>ttC	p.L150F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	150	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTATTTTTCTAAAAGCTCTC	0.343													5	74	---	---	---	---	0	0
PCDH18	54510	broad.mit.edu	37	4	138449742	138449742	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:138449742T>A	ENST00000344876.4	-	3	3016	c.2630A>T	c.(2629-2631)gAc>gTc	p.D877V	PCDH18_ENST00000507846.1_Missense_Mutation_p.D656V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D88V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D876V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D57V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	877					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCCTCACTGTCACCACGGCC	0.423													79	288	---	---	---	---	0	0
ERAP2	64167	broad.mit.edu	37	5	96245318	96245318	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:96245318A>T	ENST00000437043.3	+	15	2915	c.2204A>T	c.(2203-2205)gAc>gTc	p.D735V	ERAP2_ENST00000379904.4_Missense_Mutation_p.D690V|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	735					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CCAGTGATTGACAGGCAAAGC	0.488													6	82	---	---	---	---	0	0
TRIM36	55521	broad.mit.edu	37	5	114466299	114466299	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:114466299C>T	ENST00000513154.1	-	9	2112	c.1786G>A	c.(1786-1788)Gtt>Att	p.V596I	TRIM36_ENST00000282369.3_Missense_Mutation_p.V608I|TRIM36_ENST00000514154.1_Missense_Mutation_p.V453I			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	608	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.A607fs*27(2)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTTGGACTAACTGCATCCCGG	0.393													22	81	---	---	---	---	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122926136	122926136	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:122926136A>G	ENST00000395412.1	+	9	1593	c.874A>G	c.(874-876)Agg>Ggg	p.R292G	CSNK1G3_ENST00000521364.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.R293G|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.R217G|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.R292G|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.R180G			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	292	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTATGTAAGAAGGCTAGATTT	0.259													3	69	---	---	---	---	0	0
PAIP2	51247	broad.mit.edu	37	5	138700332	138700332	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:138700332G>T	ENST00000394795.2	+	3	1209	c.218G>T	c.(217-219)tGg>tTg	p.W73L	PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000265192.4_Missense_Mutation_p.W73L|PAIP2_ENST00000510080.1_Missense_Mutation_p.W73L			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	73	PABPC1-interacting motif-1 (PAM1).				negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGCATGAATGGTTTATTCCA	0.388													3	56	---	---	---	---	0	0
PCDHB2	0	broad.mit.edu	37	5	140475283	140475283	+	Silent	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:140475283G>T	ENST00000194155.4	+	1	1057	c.909G>T	c.(907-909)ctG>ctT	p.L303L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		303	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGAGAACTGCTTTTAAGAC	0.398													25	51	---	---	---	---	0	0
GALNT10	55568	broad.mit.edu	37	5	153795366	153795366	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:153795366G>C	ENST00000297107.6	+	11	1664	c.1527G>C	c.(1525-1527)gaG>gaC	p.E509D	GALNT10_ENST00000377661.2_Missense_Mutation_p.E447D|GALNT10_ENST00000377657.3_Missense_Mutation_p.E182D|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	509	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCTGGAGAGAGGACATCCGGC	0.488													48	150	---	---	---	---	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313422	1313422	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr6:1313422G>A	ENST00000296839.2	+	1	748	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	161					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCAGCTACACGGGCTGGCGCA	0.652													3	55	---	---	---	---	0	0
AOC1	26	broad.mit.edu	37	7	150554545	150554545	+	Silent	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:150554545C>T	ENST00000493429.1	+	4	1571	c.987C>T	c.(985-987)cgC>cgT	p.R329R	AOC1_ENST00000416793.2_Silent_p.R329R|AOC1_ENST00000467291.1_Silent_p.R329R|AOC1_ENST00000360937.4_Silent_p.R329R					amine oxidase, copper containing 1																		TCCGGCTGCGCTCCTCCTCCG	0.662													16	36	---	---	---	---	0	0
SETX	23064	broad.mit.edu	37	9	135203782	135203782	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:135203782T>C	ENST00000372169.2	-	10	3385	c.3203A>G	c.(3202-3204)gAg>gGg	p.E1068G	SETX_ENST00000393220.1_Missense_Mutation_p.E1068G|SETX_ENST00000224140.5_Missense_Mutation_p.E1068G			Q7Z333	SETX_HUMAN	senataxin	1068					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAAAGAGTCTCTGTCTTTTC	0.373													3	115	---	---	---	---	0	0
TRAF2	7186	broad.mit.edu	37	9	139793320	139793320	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:139793320G>T	ENST00000359662.3	+	2	173	c.128G>T	c.(127-129)aGg>aTg	p.R43M	TRAF2_ENST00000536468.1_Missense_Mutation_p.R43M|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43M			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	43					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTCCTCCGCAGGCCCTTCCAG	0.667													8	14	---	---	---	---	0	0
TRAF2	7186	broad.mit.edu	37	9	139793321	139793321	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:139793321G>T	ENST00000359662.3	+	2	174	c.129G>T	c.(127-129)agG>agT	p.R43S	TRAF2_ENST00000536468.1_Missense_Mutation_p.R43S|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43S			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	43					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TCCTCCGCAGGCCCTTCCAGG	0.662													7	14	---	---	---	---	0	0
MICU1	10367	broad.mit.edu	37	10	74128038	74128038	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:74128038T>C	ENST00000398761.4	-	14	1484	c.1352A>G	c.(1351-1353)aAa>aGa	p.K451R	MICU1_ENST00000398763.4_Missense_Mutation_p.K251R|MICU1_ENST00000401998.3_Missense_Mutation_p.K449R|MICU1_ENST00000361114.5_Missense_Mutation_p.K449R|MICU1_ENST00000418483.2_Missense_Mutation_p.K251R			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	449					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										ACCCATGTCTTTGGGCTTTTC	0.493													13	41	---	---	---	---	0	0
HBBP1	0	broad.mit.edu	37	11	5264445	5264445	+	RNA	SNP	A	A	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:5264445A>T	ENST00000454892.1	-	0	51					NR_001589.1																						GAAGGAGATCAGCACCTTCTT	0.498													10	24	---	---	---	---	0	0
CSTF3	1479	broad.mit.edu	37	11	33117876	33117876	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:33117876T>C	ENST00000323959.4	-	15	1490	c.1351A>G	c.(1351-1353)Att>Gtt	p.I451V	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	451					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AGATAGTCAATATAGGCCAGG	0.338													29	66	---	---	---	---	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498113	118498113	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:118498113T>C	ENST00000361417.2	+	7	985	c.574T>C	c.(574-576)Tct>Cct	p.S192P	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192P	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	192										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTGGTGAGCTCTATTGAGAA	0.572													17	49	---	---	---	---	0	0
GPRC5A	0	broad.mit.edu	37	12	13061954	13061954	+	Silent	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:13061954G>A	ENST00000014914.5	+	2	1661	c.771G>A	c.(769-771)ctG>ctA	p.L257L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	257						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GGGTGTTCCTGTTGGCTTATG	0.532													11	30	---	---	---	---	0	0
KRT84	3890	broad.mit.edu	37	12	52774883	52774883	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:52774883A>G	ENST00000257951.3	-	6	1250	c.1184T>C	c.(1183-1185)aTt>aCt	p.I395T	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	395	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCGTGCTCAATCTCTGCCTT	0.562													8	196	---	---	---	---	0	0
TEP1	7011	broad.mit.edu	37	14	20845843	20845843	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr14:20845843G>A	ENST00000262715.5	-	40	5831	c.5791C>T	c.(5791-5793)Ctc>Ttc	p.L1931F	TEP1_ENST00000545983.1_Missense_Mutation_p.L269F|TEP1_ENST00000556935.1_Missense_Mutation_p.L1823F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1931					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCACAGAGAGGGCAGGAGAG	0.547													3	94	---	---	---	---	0	0
RBL2	5934	broad.mit.edu	37	16	53485706	53485706	+	Silent	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr16:53485706T>C	ENST00000262133.6	+	5	866	c.729T>C	c.(727-729)tgT>tgC	p.C243C	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.C27C	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	243					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACTTCAGTGTTCTAATCGTA	0.378													25	97	---	---	---	---	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48601102	48601102	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr17:48601102C>T	ENST00000323776.5	+	12	1883	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S537F	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	537					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACGCGGTCTCCCTGACCCAG	0.522													19	45	---	---	---	---	0	0
BRD4	23476	broad.mit.edu	37	19	15375515	15375515	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:15375515G>T	ENST00000263377.2	-	6	1133	c.912C>A	c.(910-912)caC>caA	p.H304Q	BRD4_ENST00000371835.4_Missense_Mutation_p.H304Q|BRD4_ENST00000360016.5_Missense_Mutation_p.H304Q	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	304					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGGTGGCTCGTGAATGGGGT	0.622			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	97	---	---	---	---	0	0
SPTBN4	57731	broad.mit.edu	37	19	41007898	41007898	+	Silent	SNP	C	C	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:41007898C>T	ENST00000352632.3	+	8	941	c.855C>T	c.(853-855)tcC>tcT	p.S285S	SPTBN4_ENST00000598249.1_Silent_p.S285S|SPTBN4_ENST00000344104.3_Silent_p.S285S|SPTBN4_ENST00000338932.3_Silent_p.S285S|SPTBN4_ENST00000595535.1_Silent_p.S285S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	285					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTATTTCTCCAAGATGAAGG	0.537													4	128	---	---	---	---	0	0
ZNF230	7773	broad.mit.edu	37	19	44515338	44515338	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:44515338C>A	ENST00000429154.2	+	5	1375	c.1147C>A	c.(1147-1149)Cag>Aag	p.Q383K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	383				QRV -> PEG (in Ref. 1; AAB62180).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TAACTTGCACCAGAGGGTCCA	0.438													4	109	---	---	---	---	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565071	58565071	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:58565071G>T	ENST00000282326.1	+	6	1126	c.879G>T	c.(877-879)caG>caT	p.Q293H		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	293					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCCTTCCAGTGTGCCGACT	0.642													20	43	---	---	---	---	0	0
SOX12	6666	broad.mit.edu	37	20	306756	306756	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:306756C>G	ENST00000342665.2	+	1	518	c.188C>G	c.(187-189)cCc>cGc	p.P63R	RP5-1103G7.4_ENST00000442637.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.P63R	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	63					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACCAGTGGCCCGACATGCAC	0.662													7	20	---	---	---	---	0	0
TMEM189	387521	broad.mit.edu	37	20	48746131	48746131	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:48746131G>C	ENST00000557021.1	-	4	590	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	TMEM189_ENST00000371650.5_Missense_Mutation_p.L141V|TMEM189_ENST00000371656.2_Missense_Mutation_p.L69V|TMEM189_ENST00000371652.4_Missense_Mutation_p.L144V|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.L144V	NM_199203.2	NP_954673			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			AGCGGCAGCAGTGTCACCAGG	0.627													20	61	---	---	---	---	0	0
SRRD	402055	broad.mit.edu	37	22	26884138	26884138	+	Silent	SNP	T	T	C			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr22:26884138T>C	ENST00000215917.7	+	3	408	c.394T>C	c.(394-396)Ttg>Ctg	p.L132L		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing						rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAGAGAGATCTTGGTCACAGG	0.488													15	51	---	---	---	---	0	0
MAOA	4128	broad.mit.edu	37	X	43571169	43571169	+	Silent	SNP	T	T	A			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chrX:43571169T>A	ENST00000338702.3	+	4	480	c.357T>A	c.(355-357)atT>atA	p.I119I	MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	119					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GGAATCCCATTGCATATTTGG	0.368													7	91	---	---	---	---	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809360	18809360	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:18809360G>A	ENST00000400664.1	+	1	1937	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	629						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCACACGGCCACGGTGCG	0.692													11	25	---	---	---	---	0	0
ITLN1	55600	broad.mit.edu	37	1	160849127	160849127	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:160849127T>C	ENST00000326245.3	-	7	878	c.763A>G	c.(763-765)Agg>Ggg	p.R255G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	255	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCGGTGACCCTCATTCCAGCA	0.502													3	129	---	---	---	---	0	0
CHL1	10752	broad.mit.edu	37	3	439982	439982	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:439982G>T	ENST00000256509.2	+	25	3809	c.3167G>T	c.(3166-3168)gGa>gTa	p.G1056V	CHL1_ENST00000397491.2_Missense_Mutation_p.G1040V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1040					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTGAGCCGGGAGCTGAACAT	0.383													6	63	---	---	---	---	0	0
TATDN2	9797	broad.mit.edu	37	3	10320072	10320072	+	Silent	SNP	C	C	A			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:10320072C>A	ENST00000287652.4	+	6	3122	c.2071C>A	c.(2071-2073)Cgg>Agg	p.R691R	TATDN2_ENST00000448281.2_Silent_p.R691R|TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	691						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGGGAGGCCCGGGAAGCCTT	0.587													4	290	---	---	---	---	0	0
MYLK	4638	broad.mit.edu	37	3	123419029	123419029	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:123419029T>C	ENST00000360772.3	-	19	3664	c.3286A>G	c.(3286-3288)Aca>Gca	p.T1096A	MYLK_ENST00000475616.1_Missense_Mutation_p.T1096A|MYLK_ENST00000359169.1_Missense_Mutation_p.T1096A|MYLK_ENST00000360304.3_Missense_Mutation_p.T1096A|MYLK_ENST00000346322.5_Missense_Mutation_p.T1027A			Q15746	MYLK_HUMAN	myosin light chain kinase	1096	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTGGGGCTGTCCCCTGGCTC	0.517													3	143	---	---	---	---	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163530	163530	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr5:163530A>C	ENST00000283426.6	+	11	2325	c.2275A>C	c.(2275-2277)Agc>Cgc	p.S759R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	759					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAGGTAACCAGCACTGTAGC	0.622													44	82	---	---	---	---	0	0
BAI3	577	broad.mit.edu	37	6	69348840	69348840	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr6:69348840T>A	ENST00000370598.1	+	3	1094	c.273T>A	c.(271-273)gaT>gaA	p.D91E		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	91	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCAGTTTGATCATTTTTCCC	0.338													22	53	---	---	---	---	0	0
PSMA2	5683	broad.mit.edu	37	7	42957400	42957400	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr7:42957400G>C	ENST00000442788.1	-	7	580	c.565C>G	c.(565-567)Cat>Gat	p.H189D	PSMA2_ENST00000445517.1_Missense_Mutation_p.H119D|PSMA2_ENST00000223321.4_Missense_Mutation_p.H189D			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ATGGCTGTATGAATGGCATCT	0.279													10	36	---	---	---	---	0	0
RP11-54D18.3	0	broad.mit.edu	37	9	15047932	15047932	+	RNA	SNP	G	G	T			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr9:15047932G>T	ENST00000609203.1	-	0	728																											CATTTTTCTTGCACCCAGTCA	0.323													3	38	---	---	---	---	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128321994	128321994	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr9:128321994T>G	ENST00000265960.3	-	6	1098	c.766A>C	c.(766-768)Aag>Cag	p.K256Q	MAPKAP1_ENST00000373511.2_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.K256Q	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	256					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						AAGCCAAACTTATGAATGGGC	0.473													19	60	---	---	---	---	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25160963	25160963	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:25160963T>C	ENST00000320152.6	-	4	397	c.369A>G	c.(367-369)atA>atG	p.I123M	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.I123M	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	123					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CGCCTCCGATTATCTGCATCT	0.448													18	244	---	---	---	---	0	0
RP11-445N18.7	0	broad.mit.edu	37	10	45644356	45644356	+	RNA	SNP	T	T	G			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:45644356T>G	ENST00000427229.2	+	0	527																											GAGTTTCGAGTGGGTGAGTTC	0.353													10	19	---	---	---	---	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60994191	60994191	+	Silent	SNP	T	T	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:60994191T>C	ENST00000373880.4	+	2	498	c.234T>C	c.(232-234)gaT>gaC	p.D78D	PHYHIPL_ENST00000373878.3_Silent_p.D52D	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	78	Fibronectin type-III.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AATCAAAGGATCGCATTACAC	0.323													31	49	---	---	---	---	0	0
NLRX1	79671	broad.mit.edu	37	11	119043649	119043649	+	Silent	SNP	T	T	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr11:119043649T>C	ENST00000409109.1	+	4	767	c.180T>C	c.(178-180)gcT>gcC	p.A60A	NLRX1_ENST00000525863.1_Silent_p.A60A|NLRX1_ENST00000409991.1_Silent_p.A60A|NLRX1_ENST00000409265.4_Silent_p.A60A|NLRX1_ENST00000292199.2_Silent_p.A60A|NLRX1_ENST00000474751.2_3'UTR	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	60					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TAGATAGCGCTCCCCCACCCG	0.632													3	84	---	---	---	---	0	0
PVRL1	5818	broad.mit.edu	37	11	119548471	119548471	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr11:119548471T>C	ENST00000264025.3	-	3	1057	c.527A>G	c.(526-528)aAt>aGt	p.N176S	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.N176S|PVRL1_ENST00000341398.2_Missense_Mutation_p.N176S	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	176	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		AGGCTTCCCATTGGCTGAGGT	0.577													20	21	---	---	---	---	0	0
DHH	50846	broad.mit.edu	37	12	49484963	49484963	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr12:49484963G>T	ENST00000266991.2	-	2	819	c.513C>A	c.(511-513)ttC>ttA	p.F171L	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	171					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						AGACCCAGTCGAAGCCGGCTT	0.597													4	163	---	---	---	---	0	0
MFSD5	84975	broad.mit.edu	37	12	53646693	53646693	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr12:53646693G>C	ENST00000534842.1	+	2	542	c.395G>C	c.(394-396)cGg>cCg	p.R132P	MFSD5_ENST00000329548.4_Missense_Mutation_p.R25P	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	25					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TCAAGATGCCGGGCTAAACCC	0.597													25	120	---	---	---	---	0	0
PIWIL3	440822	broad.mit.edu	37	22	25155922	25155922	+	Missense_Mutation	SNP	C	C	T	rs138064276		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr22:25155922C>T	ENST00000332271.5	-	3	553	c.137G>A	c.(136-138)cGg>cAg	p.R46Q	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	46					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTGCAGCGGCCGGGGTGTCGA	0.547													116	250	---	---	---	---	0	0
PFKFB1	5207	broad.mit.edu	37	X	54989709	54989709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chrX:54989709C>T	ENST00000375006.3	-	2	274	c.204G>A	c.(202-204)tgG>tgA	p.W68*	PFKFB1_ENST00000545676.1_Intron|PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.W68*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	68	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTGTTCCTATCCAGTTGAGAT	0.453													58	51	---	---	---	---	0	0
TAGLN2	8407	broad.mit.edu	37	1	159889625	159889625	+	Splice_Site	SNP	C	C	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:159889625C>T	ENST00000368097.4	-	3	491	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Splice_Site_p.V61M|TAGLN2_ENST00000368096.1_Splice_Site_p.V82M	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	61	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACATAGCACCTGGATGAGG	0.552													29	112	---	---	---	---	0	0
TMCC2	9911	broad.mit.edu	37	1	205240957	205240957	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:205240957G>T	ENST00000358024.3	+	5	2224	c.1835G>T	c.(1834-1836)tGc>tTc	p.C612F	TMCC2_ENST00000329800.7_Missense_Mutation_p.C372F|TMCC2_ENST00000545499.1_Missense_Mutation_p.C534F|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.C387F	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	612						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTGGAGTCCTGCCTGACCCGG	0.657													3	69	---	---	---	---	0	0
DIRC1	116093	broad.mit.edu	37	2	189599335	189599335	+	Nonstop_Mutation	SNP	A	A	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr2:189599335A>G	ENST00000308100.4	-	2	583	c.313T>C	c.(313-315)Taa>Caa	p.*105Q	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	0										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			CATTGTAATTAGGTAAGGCTT	0.373													4	118	---	---	---	---	0	0
GALNT15	117248	broad.mit.edu	37	3	16261011	16261011	+	Silent	SNP	A	A	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr3:16261011A>G	ENST00000339732.5	+	7	1997	c.1494A>G	c.(1492-1494)ccA>ccG	p.P498P	GALNT15_ENST00000437509.1_Silent_p.P498P	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		AGCTGTACCCATCTGAACCCA	0.537													37	254	---	---	---	---	0	0
GABRB1	2560	broad.mit.edu	37	4	47408857	47408857	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr4:47408857T>A	ENST00000295454.3	+	8	1286	c.994T>A	c.(994-996)Ttt>Att	p.F332I	GABRB1_ENST00000538619.1_Missense_Mutation_p.F262I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	332					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTACATCTTCTTTGGGAAAGG	0.393													3	29	---	---	---	---	0	0
PRSS12	8492	broad.mit.edu	37	4	119216935	119216935	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr4:119216935T>A	ENST00000296498.3	-	10	2196	c.1914A>T	c.(1912-1914)ttA>ttT	p.L638F	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	638	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ACATTTACCTTAAAGAATTTT	0.363													5	82	---	---	---	---	0	0
PCDHA5	0	broad.mit.edu	37	5	140203081	140203081	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr5:140203081G>T	ENST00000529859.1	+	1	1721	c.1721G>T	c.(1720-1722)gGc>gTc	p.G574V	PCDHA5_ENST00000378126.3_Missense_Mutation_p.G574V|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G574V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACCGGCGGCGCAGTGAGC	0.687													5	65	---	---	---	---	0	0
PCDHGA4	0	broad.mit.edu	37	5	140735010	140735010	+	Silent	SNP	C	C	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr5:140735010C>T	ENST00000571252.1	+	1	243	c.243C>T	c.(241-243)agC>agT	p.S81S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCGCGCAGCGGCACCTTGG	0.612													3	63	---	---	---	---	0	0
FRS3	10817	broad.mit.edu	37	6	41738719	41738719	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr6:41738719G>A	ENST00000373018.3	-	7	1368	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	FRS3_ENST00000259748.2_Missense_Mutation_p.P373S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	373					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGCTGGTGGGCTTCTGCAGT	0.662													5	107	---	---	---	---	0	0
ALKBH4	54784	broad.mit.edu	37	7	102098332	102098332	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr7:102098332C>T	ENST00000292566.3	-	3	457	c.418G>A	c.(418-420)Ggc>Agc	p.G140S		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	140						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GGGTAGAGGCCCATCCTCCGC	0.652													6	36	---	---	---	---	0	0
OR13D1	286365	broad.mit.edu	37	9	107456834	107456834	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr9:107456834C>G	ENST00000318763.5	+	1	175	c.132C>G	c.(130-132)ttC>ttG	p.F44L		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TGACTGAATTCTTTCTGGTGG	0.443													10	39	---	---	---	---	0	0
NUP214	8021	broad.mit.edu	37	9	134026129	134026129	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr9:134026129T>G	ENST00000359428.5	+	16	2398	c.2254T>G	c.(2254-2256)Ttg>Gtg	p.L752V	RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.L742V|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L753V|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	752	11 X 5 AA approximate repeats.|Leucine-zipper 1.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TACCTTTCTTTTGGAGATTAA	0.403			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								5	149	---	---	---	---	0	0
LINC00202-1	0	broad.mit.edu	37	10	27223418	27223418	+	RNA	SNP	T	T	C			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr10:27223418T>C	ENST00000431296.1	-	0	3186					NR_026795.1																						CATCTGTCCATTGGGCTTGGT	0.438													3	73	---	---	---	---	0	0
OR52E2	119678	broad.mit.edu	37	11	5080421	5080421	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr11:5080421A>T	ENST00000321522.2	-	1	436	c.437T>A	c.(436-438)aTt>aAt	p.I146N		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACCAAGACCAATCACAGAAAC	0.463													4	25	---	---	---	---	0	0
CD163L1	283316	broad.mit.edu	37	12	7531609	7531609	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr12:7531609C>A	ENST00000313599.3	-	9	2393	c.2336G>T	c.(2335-2337)tGt>tTt	p.C779F	CD163L1_ENST00000416109.2_Missense_Mutation_p.C789F|CD163L1_ENST00000396630.1_Missense_Mutation_p.C779F|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	779	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTAAATGACACGCAGTCTG	0.368													3	72	---	---	---	---	0	0
EEA1	8411	broad.mit.edu	37	12	93247720	93247720	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr12:93247720G>T	ENST00000322349.8	-	6	641	c.377C>A	c.(376-378)cCt>cAt	p.P126H		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	126					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAACCCATCAGGTTTGGCCTC	0.294													3	29	---	---	---	---	0	0
FAM181A	90050	broad.mit.edu	37	14	94395229	94395229	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr14:94395229C>G	ENST00000267594.5	+	3	1091	c.784C>G	c.(784-786)Cct>Gct	p.P262A	FAM181A_ENST00000557000.2_Missense_Mutation_p.P200A|FAM181A_ENST00000557719.1_Missense_Mutation_p.P200A|FAM181A_ENST00000556222.1_Missense_Mutation_p.P200A	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	262										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCTCAAGATGCCTGGGGTCTC	0.617													2	13	---	---	---	---	0	0
AKAP13	11214	broad.mit.edu	37	15	86284686	86284686	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr15:86284686A>G	ENST00000394518.2	+	35	8113	c.8018A>G	c.(8017-8019)gAg>gGg	p.E2673G	AKAP13_ENST00000394510.2_Missense_Mutation_p.E918G|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2677G|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2673	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CGGGAGGCAGAGCGGCTCAGC	0.572													5	34	---	---	---	---	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475706	27475706	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr16:27475706C>A	ENST00000356183.4	-	34	5822	c.5807G>T	c.(5806-5808)aGt>aTt	p.S1936I	GTF3C1_ENST00000561623.1_Intron	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1936						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTGGGGAACTGAACTCACC	0.667													15	89	---	---	---	---	0	0
ZNF599	148103	broad.mit.edu	37	19	35251088	35251088	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr19:35251088T>G	ENST00000329285.8	-	4	991	c.618A>C	c.(616-618)aaA>aaC	p.K206N		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGCTAAACCCTTTCCCACATT	0.493													6	146	---	---	---	---	0	0
SPEN	23013	broad.mit.edu	37	1	16262301	16262301	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:16262301A>G	ENST00000375759.3	+	11	9770	c.9566A>G	c.(9565-9567)tAt>tGt	p.Y3189C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3189					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCACCCCTATACTGTGCCA	0.607													11	87	---	---	---	---	0	0
MYOM3	127294	broad.mit.edu	37	1	24419567	24419567	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:24419567C>T	ENST00000330966.7	-	10	1125	c.963G>A	c.(961-963)aaG>aaA	p.K321K	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.K320K|MYOM3_ENST00000329601.7_Silent_p.K320K			Q5VTT5	MYOM3_HUMAN	myomesin 3	320	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGTAGAGGATCTTCCGACGTC	0.627													7	38	---	---	---	---	0	0
HHAT	55733	broad.mit.edu	37	1	210577986	210577986	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:210577986A>C	ENST00000367010.1	+	6	874	c.647A>C	c.(646-648)aAt>aCt	p.N216T	HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T|HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000541565.1_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	216					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCTTACACAATGGGCCCATC	0.532													11	89	---	---	---	---	0	0
RYBP	23429	broad.mit.edu	37	3	72495650	72495650	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:72495650G>A	ENST00000477973.2	-	1	419	c.420C>T	c.(418-420)caC>caT	p.H140H		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein						apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CAAGTACCTGGTGGAGGTGCC	0.438													4	32	---	---	---	---	0	0
PROS1	5627	broad.mit.edu	37	3	93646107	93646107	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:93646107T>A	ENST00000394236.3	-	2	537	c.221A>T	c.(220-222)aAt>aTt	p.N74I	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	74	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCCGGGTCATTTTCAAAGAC	0.403													13	115	---	---	---	---	0	0
TIGD5	84948	broad.mit.edu	37	8	144681434	144681434	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr8:144681434T>C	ENST00000321385.3	+	1	1361	c.1214T>C	c.(1213-1215)cTc>cCc	p.L405P	TIGD5_ENST00000504548.2_Missense_Mutation_p.L454P			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	454					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGCTTCATGCTCAAGGACATG	0.667													6	25	---	---	---	---	0	0
HPS5	11234	broad.mit.edu	37	11	18313152	18313152	+	Silent	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr11:18313152T>C	ENST00000396253.3	-	15	2397	c.1935A>G	c.(1933-1935)ggA>ggG	p.G645G	HPS5_ENST00000349215.3_Silent_p.G759G|HPS5_ENST00000438420.2_Silent_p.G645G|HPS5_ENST00000352460.3_5'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	759						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGTCCACATGTCCACTGGTGC	0.433									Hermansky-Pudlak syndrome				11	123	---	---	---	---	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558126	56558126	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr12:56558126C>G	ENST00000394023.3	-	29	3448	c.3343G>C	c.(3343-3345)Gtt>Ctt	p.V1115L	SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L|SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1177L	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1079	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGCCCTGAACAGCTGCCACA	0.662													7	108	---	---	---	---	0	0
PTPN9	5780	broad.mit.edu	37	15	75801287	75801287	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr15:75801287G>C	ENST00000306726.2	-	6	1122	c.610C>G	c.(610-612)Ctc>Gtc	p.L204V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	204	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCAGGAGGAGACTGATGATG	0.473													6	42	---	---	---	---	0	0
MKL2	57496	broad.mit.edu	37	16	14304154	14304154	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr16:14304154G>A	ENST00000571589.1	+	4	381	c.209G>A	c.(208-210)gGc>gAc	p.G70D	MKL2_ENST00000341243.5_Missense_Mutation_p.G59D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D|MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	59					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGACCAGGGCATCATGCCA	0.493													9	81	---	---	---	---	0	0
SPAG9	9043	broad.mit.edu	37	17	49097614	49097614	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr17:49097614C>A	ENST00000262013.7	-	8	1205	c.997G>T	c.(997-999)Gct>Tct	p.A333S	SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S|SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	333					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCATTTTCAGCAGAGCCTTAA	0.338													3	28	---	---	---	---	0	0
SMCHD1	23347	broad.mit.edu	37	18	2760731	2760731	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr18:2760731T>G	ENST00000320876.6	+	35	4766	c.4428T>G	c.(4426-4428)agT>agG	p.S1476R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1476					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCTCAACAGTGAACAGGTTT	0.294													3	46	---	---	---	---	0	0
RYR1	6261	broad.mit.edu	37	19	38934381	38934381	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr19:38934381C>T	ENST00000355481.4	+	5	500	c.369C>T	c.(367-369)tcC>tcT	p.S123S	RYR1_ENST00000360985.3_Silent_p.S123S|RYR1_ENST00000359596.3_Silent_p.S123S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	123	MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACCACCTCCCGCTCCATGA	0.647													9	93	---	---	---	---	0	0
ZHX3	23051	broad.mit.edu	37	20	39832183	39832183	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr20:39832183G>A	ENST00000309060.3	-	4	1789	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000432768.2_Silent_p.P458P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	458	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAGTGTTAATGGGTGCCACAC	0.572													10	57	---	---	---	---	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104728369	104728369	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chrX:104728369T>A	ENST00000372582.1	+	6	1518	c.762T>A	c.(760-762)gaT>gaA	p.D254E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	254	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGTTATAGATGTCCAGCTGG	0.423													16	51	---	---	---	---	0	0
ATP8B2	57198	broad.mit.edu	37	1	154303605	154303605	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:154303605G>T	ENST00000368489.3	+	5	385	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y|ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	115					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCTGTTAAAGATGCCACTGA	0.488													21	40	---	---	---	---	0	0
XCL1	6375	broad.mit.edu	37	1	168549329	168549329	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:168549329G>C	ENST00000367818.3	+	2	255	c.90G>C	c.(88-90)agG>agC	p.R30S		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	30					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CAGATAAGAGGACCTGTGTGA	0.458													19	71	---	---	---	---	0	0
LAMC2	3918	broad.mit.edu	37	1	183207488	183207488	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:183207488C>T	ENST00000264144.4	+	19	2866	c.2801C>T	c.(2800-2802)gCa>gTa	p.A934V	LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	934	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAAAGCAGAGCACAAGAAGCA	0.418													37	109	---	---	---	---	0	0
APOB	338	broad.mit.edu	37	2	21252827	21252827	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr2:21252827C>T	ENST00000233242.1	-	11	1540	c.1413G>A	c.(1411-1413)atG>atA	p.M471I	APOB_ENST00000399256.4_Missense_Mutation_p.M471I	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	471	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAATCTGTTCCATCAGGTAAT	0.428													11	131	---	---	---	---	0	0
TBC1D5	9779	broad.mit.edu	37	3	17279892	17279892	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:17279892G>A	ENST00000253692.7	-	17	3015	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	451						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATATTCAGGGGAGCACCTTTG	0.388													12	46	---	---	---	---	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125824675	125824675	+	Silent	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:125824675G>A	ENST00000393434.2	-	22	2896	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	ALDH1L1_ENST00000472186.1_Silent_p.V849V|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.V859V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	849	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTTGTCACTGACATACAGGG	0.552													5	177	---	---	---	---	0	0
ABCA13	154664	broad.mit.edu	37	7	48352729	48352729	+	Silent	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:48352729C>T	ENST00000435803.1	+	25	9606	c.9582C>T	c.(9580-9582)agC>agT	p.S3194S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3194					transport	integral to membrane	ATP binding|ATPase activity	p.S3139S(1)|p.S3194S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCAGCCTCAGCGCCTTGCTTG	0.433													10	18	---	---	---	---	0	0
OR2F2	135948	broad.mit.edu	37	7	143632698	143632698	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:143632698G>A	ENST00000408955.2	+	1	440	c.373G>A	c.(373-375)Gct>Act	p.A125T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCGCCATGTGGCTGTGTCTGA	0.557													35	89	---	---	---	---	0	0
LRRC61	65999	broad.mit.edu	37	7	150034141	150034141	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:150034141C>T	ENST00000359623.4	+	3	779	c.191C>T	c.(190-192)gCg>gTg	p.A64V	LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	64										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCAGGCAACGCGCTCACCCAC	0.652													4	114	---	---	---	---	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731123	23731123	+	Splice_Site	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:23731123C>G	ENST00000397312.2	-	3	504	c.230G>C	c.(229-231)gGg>gCg	p.G77A	ELAVL2_ENST00000223951.6_Splice_Site_p.G77A|ELAVL2_ENST00000380117.1_Splice_Site_p.G77A|ELAVL2_ENST00000544538.1_Splice_Site_p.G77A|ELAVL2_ENST00000380110.4_Splice_Site_p.G106A	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	77	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAAGCTCTGCCCTAATGAAAA	0.393													17	28	---	---	---	---	0	0
C9orf172	389813	broad.mit.edu	37	9	139740894	139740894	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:139740894G>T	ENST00000436881.1	+	1	2028	c.2028G>T	c.(2026-2028)atG>atT	p.M676I		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	676										endometrium(2)|large_intestine(1)|lung(6)	9						CCGAGACCATGTTCAACGCCT	0.692													3	48	---	---	---	---	0	0
SEC31B	25956	broad.mit.edu	37	10	102248628	102248628	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr10:102248628G>T	ENST00000370345.3	-	24	3372	c.3275C>A	c.(3274-3276)tCt>tAt	p.S1092Y		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1092					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTCAGTTGCAGACAGGGAGCA	0.577													35	62	---	---	---	---	0	0
PDXDC2P	0	broad.mit.edu	37	16	70057560	70057560	+	RNA	SNP	A	A	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr16:70057560A>C	ENST00000531894.1	-	0	1005					NR_003610.1																						CATAACCCAGAGCCAATGTTG	0.353													60	74	---	---	---	---	0	0
TMEM102	284114	broad.mit.edu	37	17	7340279	7340279	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:7340279G>T	ENST00000323206.1	+	3	1254	c.981G>T	c.(979-981)tgG>tgT	p.W327C	RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	327					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TGGCGGGCTGGCCCGAGGGGG	0.726													3	18	---	---	---	---	0	0
COASY	80347	broad.mit.edu	37	17	40717505	40717505	+	Silent	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:40717505G>T	ENST00000393818.2	+	7	1860	c.1404G>T	c.(1402-1404)gtG>gtT	p.V468V	COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000449624.1_Silent_p.V173V|COASY_ENST00000590958.1_Silent_p.V497V|COASY_ENST00000420359.1_Silent_p.V468V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	468	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GTGTGTGTGTGATTGATGCCG	0.612													17	49	---	---	---	---	0	0
MRPL54	116541	broad.mit.edu	37	19	3762707	3762707	+	Silent	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:3762707C>G	ENST00000330133.4	+	1	46	c.9C>G	c.(7-9)acC>acG	p.T3T		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	3						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGCGACCAAACGCCTTT	0.632													37	105	---	---	---	---	0	0
WDR83	84292	broad.mit.edu	37	19	12780860	12780860	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:12780860C>A	ENST00000418543.3	+	4	522	c.173C>A	c.(172-174)aCg>aAg	p.T58K	WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.T58K	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	58					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						CTTCGGGGGACGCTGCTGCGG	0.677													3	75	---	---	---	---	0	0
TTLL10	254173	broad.mit.edu	37	1	1117795	1117795	+	Missense_Mutation	SNP	C	C	G	rs139967804		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:1117795C>G	ENST00000379290.1	+	10	1058	c.885C>G	c.(883-885)caC>caG	p.H295Q	TTLL10_ENST00000379288.3_Missense_Mutation_p.H222Q|TTLL10_ENST00000379289.1_Missense_Mutation_p.H295Q			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	295	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTCAAACACGAGAGAGAGG	0.622													15	106	---	---	---	---	0	0
TRIT1	54802	broad.mit.edu	37	1	40318533	40318533	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:40318533T>A	ENST00000316891.5	-	4	444	c.430A>T	c.(430-432)Act>Tct	p.T144S	TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.T144S|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.T64S|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	144					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTTCTCAGTGCCCATCTCC	0.453													47	104	---	---	---	---	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301232	110301232	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:110301232A>G	ENST00000369805.3	-	7	747	c.518T>C	c.(517-519)aTg>aCg	p.M173T	EPS8L3_ENST00000361965.4_Missense_Mutation_p.M172T|EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.M172T	NM_139053.2	NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	172	Pro-rich.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CGGCCTTTCCATAGCAGGCCC	0.597													24	42	---	---	---	---	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281379	145281379	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:145281379C>G	ENST00000369340.3	+	5	753	c.309C>G	c.(307-309)tgC>tgG	p.C103W	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C103W|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C103W|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C103W			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	103	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GTAAGGAGTGCCAATGGACCG	0.507													63	641	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158615323	158615323	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:158615323C>G	ENST00000368147.4	-	28	4138	c.3958G>C	c.(3958-3960)Gac>Cac	p.D1320H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGTTAAGTCTTCGGCCAGC	0.418													9	157	---	---	---	---	0	0
ARID4B	51742	broad.mit.edu	37	1	235338686	235338686	+	Silent	SNP	T	T	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:235338686T>G	ENST00000264183.3	-	22	3974	c.3477A>C	c.(3475-3477)tcA>tcC	p.S1159S	ARID4B_ENST00000349213.3_Silent_p.S1073S|ARID4B_ENST00000366603.2_Silent_p.S1159S	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCACCAGCTGAAAGTTCTT	0.353													4	103	---	---	---	---	0	0
GTDC1	79712	broad.mit.edu	37	2	144714783	144714783	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:144714783T>A	ENST00000392869.2	-	8	1261	c.1109A>T	c.(1108-1110)cAt>cTt	p.H370L	GTDC1_ENST00000542155.1_Missense_Mutation_p.H370L|GTDC1_ENST00000409214.1_Missense_Mutation_p.H370L|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000463875.2_Missense_Mutation_p.H241L|GTDC1_ENST00000409298.1_Missense_Mutation_p.H252L|GTDC1_ENST00000344850.4_Missense_Mutation_p.H370L	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AAAGAATTCATGCTTAGCTGT	0.388													21	40	---	---	---	---	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209204774	209204774	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:209204774A>C	ENST00000264380.4	+	31	5008	c.4850A>C	c.(4849-4851)cAa>cCa	p.Q1617P		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1617					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACAGACAGCCAAGTGAAGGAA	0.328													59	59	---	---	---	---	0	0
XPC	7508	broad.mit.edu	37	3	14212034	14212034	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr3:14212034G>T	ENST00000285021.7	-	3	530	c.316C>A	c.(316-318)Ctc>Atc	p.L106I	XPC_ENST00000449060.2_Missense_Mutation_p.L106I	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	106	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCTTCTTGAGGTCACTTGGA	0.428			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	130	---	---	---	---	0	0
SEL1L3	23231	broad.mit.edu	37	4	25785893	25785893	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr4:25785893T>C	ENST00000399878.3	-	14	2359	c.2237A>G	c.(2236-2238)aAc>aGc	p.N746S	SEL1L3_ENST00000264868.5_Missense_Mutation_p.N711S|SEL1L3_ENST00000502949.1_Missense_Mutation_p.N593S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	746						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGCCGTCTGTTCTTTTTTAC	0.418													8	156	---	---	---	---	0	0
FBN2	2201	broad.mit.edu	37	5	127800512	127800512	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:127800512C>A	ENST00000508053.1	-	12	1705	c.731G>T	c.(730-732)gGa>gTa	p.G244V	FBN2_ENST00000262464.4_Missense_Mutation_p.G244V|FBN2_ENST00000508989.1_Missense_Mutation_p.G211V			P35556	FBN2_HUMAN	fibrillin 2	244	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCACGCCCGTCCAATGGTGGC	0.602													46	56	---	---	---	---	0	0
PSD2	84249	broad.mit.edu	37	5	139193322	139193322	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:139193322A>C	ENST00000274710.3	+	3	1005	c.800A>C	c.(799-801)gAc>gCc	p.D267A		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	267	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGACACGGACAAGTTGCTG	0.607													7	14	---	---	---	---	0	0
CDHR2	54825	broad.mit.edu	37	5	176011821	176011821	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:176011821G>T	ENST00000510636.1	+	19	2813	c.2539G>T	c.(2539-2541)Gtg>Ttg	p.V847L	CDHR2_ENST00000261944.5_Missense_Mutation_p.V847L|CDHR2_ENST00000506348.1_Missense_Mutation_p.V847L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	847	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GATACAGCTTGTGAACATTCT	0.612													4	112	---	---	---	---	0	0
BAI3	577	broad.mit.edu	37	6	69349086	69349086	+	Silent	SNP	T	T	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr6:69349086T>G	ENST00000370598.1	+	3	1340	c.519T>G	c.(517-519)acT>acG	p.T173T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	173					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATTATGTACTTGGTTGGAGA	0.413													3	86	---	---	---	---	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102895274	102895274	+	RNA	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr7:102895274T>C	ENST00000312132.4	-	0	2570																											CATTAGTCCATTTAAAATAAA	0.338													9	55	---	---	---	---	0	0
TSTD2	158427	broad.mit.edu	37	9	100388075	100388075	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr9:100388075T>C	ENST00000341170.4	-	3	752	c.370A>G	c.(370-372)Agt>Ggt	p.S124G	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	124										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GACGAAAGACTCTTTGAGGTG	0.438													53	69	---	---	---	---	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349635	65349635	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr11:65349635G>T	ENST00000309295.4	+	9	1757	c.1492G>T	c.(1492-1494)Gcc>Tcc	p.A498S		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	498										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTCGAGGGGGCCAGGGCTGC	0.672													5	17	---	---	---	---	0	0
ACVR1B	91	broad.mit.edu	37	12	52379005	52379005	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:52379005A>G	ENST00000257963.4	+	6	1086	c.1009A>G	c.(1009-1011)Aag>Gag	p.K337E	ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Missense_Mutation_p.K378E|ACVR1B_ENST00000426655.2_Missense_Mutation_p.K337E|ACVR1B_ENST00000542485.1_Missense_Mutation_p.K285E|ACVR1B_ENST00000415850.2_Missense_Mutation_p.K337E	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	337	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCGAGACTTAAAGTCAAAGAA	0.438													18	29	---	---	---	---	0	0
CCT2	10576	broad.mit.edu	37	12	69986785	69986785	+	Silent	SNP	T	T	C	rs148371443	by1000genomes	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:69986785T>C	ENST00000543146.2	+	9	1121	c.639T>C	c.(637-639)tcT>tcC	p.S213S	CCT2_ENST00000544368.2_Silent_p.S260S|CCT2_ENST00000299300.6_Silent_p.S260S	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	260					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAGTTGACTCTACAGCAAAGG	0.363													19	31	---	---	---	---	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112326400	112326400	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:112326400C>G	ENST00000550735.2	+	11	1834	c.1078C>G	c.(1078-1080)Ctg>Gtg	p.L360V	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.L360V	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	360					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						CAACCCCATTCTGCGGAAGAG	0.463													45	64	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419663	105419663	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr14:105419663C>T	ENST00000333244.5	-	7	2244	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	709						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGAGGCTCACGTCGGCCTCC	0.612													5	182	---	---	---	---	0	0
ALOX15	246	broad.mit.edu	37	17	4541945	4541945	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:4541945C>A	ENST00000570836.1	-	6	673	c.577G>T	c.(577-579)Gtt>Ttt	p.V193F	ALOX15_ENST00000574640.1_Missense_Mutation_p.V154F|ALOX15_ENST00000293761.3_Missense_Mutation_p.V193F|ALOX15_ENST00000545513.1_Missense_Mutation_p.V215F			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	193	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CAAGTCAGAACATTTAGAGAG	0.532													3	65	---	---	---	---	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340671	39340671	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:39340671A>G	ENST00000398472.1	-	1	923	c.436T>C	c.(436-438)Tgt>Cgt	p.C146R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	146						keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GAGGTTCAACAAGAGGATCCA	0.527													5	226	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9090433	9090433	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr19:9090433A>T	ENST00000397910.4	-	1	1585	c.1382T>A	c.(1381-1383)tTt>tAt	p.F461Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	461	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGTTGTAAAACCTAGAGT	0.498													6	181	---	---	---	---	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802730	31802730	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr21:31802730C>T	ENST00000334068.2	+	1	159	c.137C>T	c.(136-138)tCt>tTt	p.S46F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	46	4 X 10 AA approximate repeats.					intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTGCGTTCCTCTCTCTACAGG	0.632													40	47	---	---	---	---	0	0
BRWD1	54014	broad.mit.edu	37	21	40668227	40668227	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr21:40668227C>T	ENST00000342449.3	-	6	490	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	BRWD1_ENST00000333229.2_Missense_Mutation_p.E138K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E138K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTGGCATTTCAGGAGGTCTT	0.378													54	31	---	---	---	---	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132876	91132876	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chrX:91132876G>T	ENST00000373094.1	+	2	2482	c.1637G>T	c.(1636-1638)gGg>gTg	p.G546V	PCDH11X_ENST00000361655.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G546V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G546V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	546	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAAGATAACGGGGTACCACCC	0.383													62	12	---	---	---	---	0	0
MTHFR	4524	broad.mit.edu	37	1	11860307	11860307	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:11860307C>T	ENST00000376592.1	-	3	676	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	183					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	AAACTCACTTCGGATGTGCTT	0.567													5	266	---	---	---	---	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:12908039G>A	ENST00000317869.6	-	2	329	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGAAAAGATCGCCTCCACATC	0.473													6	184	---	---	---	---	0	0
CACHD1	57685	broad.mit.edu	37	1	65142590	65142590	+	Silent	SNP	C	C	T	rs150699745		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:65142590C>T	ENST00000371073.2	+	22	2988	c.2988C>T	c.(2986-2988)tgC>tgT	p.C996C	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.C945C			Q5VU97	CAHD1_HUMAN	cache domain containing 1	996					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCCCAGCTGCGAGGTCCACC	0.547													27	198	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158627418	158627418	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:158627418C>T	ENST00000368147.4	-	19	2834	c.2654G>A	c.(2653-2655)cGt>cAt	p.R885H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTCGAGCACGGAGAGACTC	0.468													15	187	---	---	---	---	0	0
CD48	962	broad.mit.edu	37	1	160654785	160654785	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:160654785C>T	ENST00000368045.3	-	2	316	c.277G>A	c.(277-279)Gca>Aca	p.A93T	CD48_ENST00000368046.3_Missense_Mutation_p.A93T			P09326	CD48_HUMAN	CD48 molecule	93	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTACAGTGCGCCACTCTGA	0.423													4	166	---	---	---	---	0	0
GCSAML	148823	broad.mit.edu	37	1	247712451	247712451	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:247712451G>T	ENST00000366490.3	+	4	478	c.320G>T	c.(319-321)tGg>tTg	p.W107L	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000536561.1_5'UTR					germinal center-associated, signaling and motility-like																		TTCCCCAAGTGGAGTGAAACT	0.517													3	53	---	---	---	---	0	0
FAM228A	653140	broad.mit.edu	37	2	24406452	24406452	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:24406452T>A	ENST00000295150.3	+	5	425	c.339T>A	c.(337-339)tgT>tgA	p.C113*	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A																		CTTCACACTGTGTGATTCCAA	0.408													3	43	---	---	---	---	0	0
LRPPRC	10128	broad.mit.edu	37	2	44121719	44121719	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:44121719T>C	ENST00000260665.7	-	36	4007	c.3950A>G	c.(3949-3951)aAg>aGg	p.K1317R		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1317	RNA-binding.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTTCTTCCTTTTCATTTAA	0.269													3	81	---	---	---	---	0	0
DQX1	165545	broad.mit.edu	37	2	74750268	74750268	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:74750268C>T	ENST00000404568.3	-	6	1341	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L	DQX1_ENST00000393951.2_Silent_p.L374L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	374	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCTTGCTCGCAATCGTCTTG	0.507													7	193	---	---	---	---	0	0
RANBP2	5903	broad.mit.edu	37	2	109365452	109365452	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:109365452C>T	ENST00000283195.6	+	9	1266	c.1140C>T	c.(1138-1140)agC>agT	p.S380S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	380					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCAACAAAAGCGGGCAGTCTG	0.353													6	232	---	---	---	---	0	0
LRP2	4036	broad.mit.edu	37	2	170136033	170136033	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:170136033G>A	ENST00000263816.3	-	12	1699	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L	LRP2_ENST00000443831.1_Silent_p.L472L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	472					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCACAGCCAGGTTCTCTGGG	0.353													19	77	---	---	---	---	0	0
DNPEP	23549	broad.mit.edu	37	2	220251660	220251660	+	Translation_Start_Site	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:220251660C>T	ENST00000373972.1	-	0	194				DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N|DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N			Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase						peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CTTGAGTTCACTGAAGCCAGC	0.587													16	79	---	---	---	---	0	0
DLEC1	9940	broad.mit.edu	37	3	38139333	38139333	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:38139333G>A	ENST00000308059.6	+	18	2685	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	DLEC1_ENST00000346219.3_Silent_p.Q888Q|DLEC1_ENST00000452631.2_Silent_p.Q888Q			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	888					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACGTCAGCCAGCTCCCAGCCA	0.597													3	76	---	---	---	---	0	0
UROC1	131669	broad.mit.edu	37	3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:126216983C>T	ENST00000290868.2	-	14	1402	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	450			R -> C (in UROD; loss of activity).		histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCACACCCAGCGGAAAGGCCC	0.627													9	250	---	---	---	---	0	0
MFI2	4241	broad.mit.edu	37	3	196735710	196735710	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:196735710T>G	ENST00000296350.5	-	12	1765	c.1652A>C	c.(1651-1653)gAg>gCg	p.E551A		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	551	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTAATACCGCTCCTGGCTGTT	0.672													6	77	---	---	---	---	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947262	33947262	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:33947262G>A	ENST00000382102.3	-	6	1431	c.1374C>T	c.(1372-1374)tgC>tgT	p.C458C	SLC45A2_ENST00000296589.4_Intron|SLC45A2_ENST00000342059.3_Intron	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	0					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TTCAATGACAGCACACCTCCT	0.498													4	262	---	---	---	---	0	0
CCL28	56477	broad.mit.edu	37	5	43382044	43382044	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:43382044C>A	ENST00000361115.4	-	3	376	c.302G>T	c.(301-303)aGg>aTg	p.R101M	CCL28_ENST00000513525.1_Missense_Mutation_p.R54M	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	101					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						GTGTTTCTTCCTGTGGCAAAC	0.443													5	175	---	---	---	---	0	0
PCDHB14	0	broad.mit.edu	37	5	140605164	140605164	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:140605164C>T	ENST00000239449.4	+	1	2087	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		696					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATTGGCCTCGGTGTCGTCG	0.711													4	203	---	---	---	---	0	0
MAK	4117	broad.mit.edu	37	6	10784683	10784683	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:10784683T>C	ENST00000313243.2	-	11	1821	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.Y480C|MAK_ENST00000538030.1_3'UTR|MAK_ENST00000474039.1_Missense_Mutation_p.Y480C			P20794	MAK_HUMAN	male germ cell-associated kinase	480					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTGTTTCAAGTAGTACTGTTT	0.418													6	84	---	---	---	---	0	0
MOXD1	26002	broad.mit.edu	37	6	132645229	132645229	+	Silent	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:132645229T>G	ENST00000367963.3	-	7	1072	c.954A>C	c.(952-954)atA>atC	p.I318I	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.I250I	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	318					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CAGAATTATCTATTAAGCCTA	0.348													5	65	---	---	---	---	0	0
RP1	6101	broad.mit.edu	37	8	55540415	55540415	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr8:55540415G>A	ENST00000220676.1	+	4	4121	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1325					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCTATGAGGGAGCTTGCCC	0.393													26	108	---	---	---	---	0	0
CCDC180	100499483	broad.mit.edu	37	9	100132347	100132347	+	Missense_Mutation	SNP	C	C	T	rs141047389		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr9:100132347C>T	ENST00000375202.2	+	46	5817	c.4465C>T	c.(4465-4467)Cgg>Tgg	p.R1489W	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.R1434W|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W					coiled-coil domain containing 180																		ACAGCAGAAGCGGCTGGAGAA	0.542													4	29	---	---	---	---	0	0
GAD2	2572	broad.mit.edu	37	10	26513522	26513522	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:26513522G>T	ENST00000376261.3	+	6	1169	c.666G>T	c.(664-666)aaG>aaT	p.K222N	GAD2_ENST00000259271.3_Missense_Mutation_p.K222N|GAD2_ENST00000376248.1_Missense_Mutation_p.K108N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	222					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TCACACTAAAGAAAATGAGAG	0.378													5	120	---	---	---	---	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458034	53458034	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:53458034C>T	ENST00000331173.4	-	1	1321	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	426	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TCTAAGACCTCAGTTTCCATG	0.527													8	90	---	---	---	---	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904264	74904264	+	Splice_Site	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr11:74904264C>A	ENST00000289575.5	+	9	1472	c.1077C>A	c.(1075-1077)gtC>gtA	p.V359V	SLCO2B1_ENST00000428359.2_Splice_Site_p.V337V|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104V|SLCO2B1_ENST00000454962.2_Splice_Site_p.V132V|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215V|SLCO2B1_ENST00000532236.1_Splice_Site_p.V243V|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	359					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCCCCACAGTCTTCCCCAGGG	0.617													5	120	---	---	---	---	0	0
PRKAG1	5571	broad.mit.edu	37	12	49398943	49398943	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:49398943C>A	ENST00000548065.1	-	6	771	c.315G>T	c.(313-315)caG>caT	p.Q105H	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H|RP11-386G11.5_ENST00000547866.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	105					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						GCTCATAGATCTGTACCTGAA	0.423													5	118	---	---	---	---	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77222174	77222174	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:77222174T>C	ENST00000426126.2	+	10	1694	c.1045T>C	c.(1045-1047)Ttt>Ctt	p.F349L	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	349					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTACAGATCCTTTTTCGATCA	0.308													3	197	---	---	---	---	0	0
DEGS2	123099	broad.mit.edu	37	14	100613237	100613237	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr14:100613237T>G	ENST00000305631.5	-	3	1408	c.833A>C	c.(832-834)aAg>aCg	p.K278T	DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	278					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GGGCGCGATCTTCCGCACCTG	0.657													7	87	---	---	---	---	0	0
SPTBN5	51332	broad.mit.edu	37	15	42147470	42147470	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:42147470C>T	ENST00000320955.6	-	55	9602	c.9375G>A	c.(9373-9375)gcG>gcA	p.A3125A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3125					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGCGGTGGCCGCCTTGGTGG	0.677													3	44	---	---	---	---	0	0
C15orf26	161502	broad.mit.edu	37	15	81427611	81427611	+	Splice_Site	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:81427611G>T	ENST00000286732.4	+	2	153	c.70G>T	c.(70-72)Gag>Tag	p.E24*		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	24										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTCTGTTTAGGAGCTCATGAA	0.338													5	53	---	---	---	---	0	0
ACAN	176	broad.mit.edu	37	15	89398620	89398620	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:89398620G>A	ENST00000439576.2	+	12	3178	c.2804G>A	c.(2803-2805)gGt>gAt	p.G935D	ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000561243.1_Missense_Mutation_p.G935D|ACAN_ENST00000559004.1_Missense_Mutation_p.G935D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	935					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTACGGTTGGTGAACTGCCC	0.557													4	34	---	---	---	---	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926769	22926769	+	Silent	SNP	A	A	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:22926769A>G	ENST00000261374.3	+	2	1424	c.990A>G	c.(988-990)aaA>aaG	p.K330K		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	330						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GCAAATCAAAAGGGAGAACTC	0.418													4	201	---	---	---	---	0	0
NLRC5	84166	broad.mit.edu	37	16	57088675	57088675	+	Silent	SNP	G	G	A	rs148506460		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:57088675G>A	ENST00000436936.1	+	25	3744	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	NLRC5_ENST00000308149.7_Silent_p.T1173T|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Silent_p.T1173T|NLRC5_ENST00000262510.6_Silent_p.T1173T			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1173					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGAGCCAGACGGGACTGTCCC	0.592													5	410	---	---	---	---	0	0
GINS3	64785	broad.mit.edu	37	16	58437218	58437218	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:58437218T>C	ENST00000318129.5	+	2	611	c.403T>C	c.(403-405)Tcc>Ccc	p.S135P	GINS3_ENST00000426538.2_Missense_Mutation_p.S174P|GINS3_ENST00000328514.7_Intron	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	135					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGCAGACATTTCCCAGTCTCT	0.517													11	29	---	---	---	---	0	0
MRPS23	51649	broad.mit.edu	37	17	55917219	55917219	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr17:55917219C>A	ENST00000313608.8	-	5	543	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	166					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTTTCTGAGTCTCGTTTTCTT	0.488													5	74	---	---	---	---	0	0
TCF3	6929	broad.mit.edu	37	19	1615477	1615477	+	Silent	SNP	C	C	T	rs1052738		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:1615477C>T	ENST00000262965.5	-	18	1973	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	543					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCTCGGCCTTCTGCTCTG	0.687			T	"""PBX1, HLF, TFPT"""	pre B-ALL								28	73	---	---	---	---	0	0
ZNF536	9745	broad.mit.edu	37	19	30936378	30936378	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:30936378G>A	ENST00000355537.3	+	2	2056	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G637S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCGACTGCGGCCGGGTGTT	0.622													4	173	---	---	---	---	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858384	38858384	+	Silent	SNP	C	C	T	rs2302184		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:38858384C>T	ENST00000409235.3	+	25	3013	c.2898C>T	c.(2896-2898)gaC>gaT	p.D966D	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.D926D	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	966					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACAGTGAGGACGAAATCTACC	0.597													27	388	---	---	---	---	0	0
CNTD2	79935	broad.mit.edu	37	19	40730407	40730407	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:40730407G>A	ENST00000430325.2	-	3	549	c.501C>T	c.(499-501)tgC>tgT	p.C167C	CNTD2_ENST00000513948.1_Silent_p.C61C|CNTD2_ENST00000433940.1_Silent_p.C137C	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	167					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						CGGGAAGCACGCACTCTTCCA	0.592													9	486	---	---	---	---	0	0
STIL	6491	broad.mit.edu	37	1	47717391	47717391	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:47717391C>A	ENST00000360380.3	-	18	3644	c.3281G>T	c.(3280-3282)aGc>aTc	p.S1094I	STIL_ENST00000337817.5_Missense_Mutation_p.S1094I|STIL_ENST00000371877.3_Missense_Mutation_p.S1095I|STIL_ENST00000243182.6_Missense_Mutation_p.S1094I|STIL_ENST00000396221.2_Missense_Mutation_p.S1077I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1094					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATGGAGAAGGCTGAATGGGTC	0.368													9	209	---	---	---	---	0	0
RPAP2	79871	broad.mit.edu	37	1	92789789	92789789	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:92789789G>C	ENST00000610020.1	+	8	1421	c.1312G>C	c.(1312-1314)Ggc>Cgc	p.G438R		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ACCTTTTAGGGGCTCAGGTAC	0.413													23	74	---	---	---	---	0	0
CACNA1E	777	broad.mit.edu	37	1	181702058	181702058	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:181702058C>T	ENST00000526775.1	+	19	2944	c.2779C>T	c.(2779-2781)Cgc>Tgc	p.R927C	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R946C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R927C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R897C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R553C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R878C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R946C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	946					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCCAGGAACGCAGTCTGGA	0.627													25	99	---	---	---	---	0	0
PPIG	9360	broad.mit.edu	37	2	170493058	170493058	+	Silent	SNP	A	A	G			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr2:170493058A>G	ENST00000260970.3	+	14	1510	c.1290A>G	c.(1288-1290)aaA>aaG	p.K430K	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Silent_p.K430K|PPIG_ENST00000409714.3_Silent_p.K415K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	430					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGACCATAAATCTAACAGCA	0.328													11	32	---	---	---	---	0	0
NRP2	8828	broad.mit.edu	37	2	206641226	206641226	+	Silent	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr2:206641226G>A	ENST00000357118.4	+	16	2713	c.2682G>A	c.(2680-2682)gaG>gaA	p.E894E	NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000272849.3_Silent_p.E899E	NM_201267.1	NP_957719	O60462	NRP2_HUMAN	neuropilin 2	0					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TTAAGCTAGAGCAAGACCGTG	0.532											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	117	---	---	---	---	0	0
ZNF502	91392	broad.mit.edu	37	3	44762640	44762640	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr3:44762640A>G	ENST00000296091.4	+	4	587	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	ZNF502_ENST00000449836.1_Missense_Mutation_p.T111A|ZNF502_ENST00000436624.2_Missense_Mutation_p.T111A	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTTGCTTTTGACCTCAAGCCT	0.383													7	92	---	---	---	---	0	0
CNGA1	1259	broad.mit.edu	37	4	47938768	47938768	+	Silent	SNP	G	G	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr4:47938768G>C	ENST00000402813.3	-	10	2092	c.1950C>G	c.(1948-1950)ctC>ctG	p.L650L	CNGA1_ENST00000420489.2_Silent_p.L581L|CNGA1_ENST00000514170.1_Silent_p.L581L|CNGA1_ENST00000358519.4_Silent_p.L581L|CNGA1_ENST00000544810.1_Silent_p.L581L			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	581					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GAGCTTCCATGAGGTCATCTT	0.408													56	161	---	---	---	---	0	0
LPHN3	23284	broad.mit.edu	37	4	62903460	62903460	+	Silent	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr4:62903460G>A	ENST00000512091.2	+	23	4146	c.3399G>A	c.(3397-3399)gaG>gaA	p.E1133E	LPHN3_ENST00000506700.1_Silent_p.E1124E|LPHN3_ENST00000506746.1_Silent_p.E1192E|LPHN3_ENST00000514157.1_Silent_p.E1124E|LPHN3_ENST00000508946.1_Silent_p.E1133E|LPHN3_ENST00000514996.1_Silent_p.E1124E|LPHN3_ENST00000507164.1_Silent_p.E1192E|LPHN3_ENST00000509896.1_Silent_p.E1201E|LPHN3_ENST00000504896.1_Silent_p.E1133E|LPHN3_ENST00000507625.1_Silent_p.E1192E|LPHN3_ENST00000506720.1_Silent_p.E1201E|LPHN3_ENST00000511324.1_Silent_p.E1192E|LPHN3_ENST00000545650.1_Silent_p.E1133E|LPHN3_ENST00000508693.1_Silent_p.E1201E|LPHN3_ENST00000514591.1_Silent_p.E1133E			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACGAAAAGAGTATGGGAAAT	0.388													5	64	---	---	---	---	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5190127	5190127	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr5:5190127G>A	ENST00000274181.7	+	7	1229	c.1091G>A	c.(1090-1092)aGc>aAc	p.S364N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S364N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	364	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCTTAAGTAGCTTCTGCCAG	0.483													20	79	---	---	---	---	0	0
UBD	10537	broad.mit.edu	37	6	29523919	29523919	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr6:29523919T>C	ENST00000377050.4	-	2	459	c.236A>G	c.(235-237)aAa>aGa	p.K79R	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	79	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTTCACCACTTTCAGGGTAAG	0.527													13	41	---	---	---	---	0	0
TRIM4	89122	broad.mit.edu	37	7	99506411	99506411	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr7:99506411T>C	ENST00000355947.2	-	4	721	c.592A>G	c.(592-594)Aga>Gga	p.R198G	TRIM4_ENST00000349062.2_Missense_Mutation_p.R172G|TRIM4_ENST00000354241.5_Missense_Mutation_p.R172G	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	198					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GTGCTGATTCTCATTCGCTGA	0.428													32	93	---	---	---	---	0	0
CA3	761	broad.mit.edu	37	8	86352079	86352079	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:86352079C>A	ENST00000285381.2	+	2	256	c.173C>A	c.(172-174)aCc>aAc	p.T58N		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	58					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCTGCCAAGACCATCCTGAAT	0.453													5	73	---	---	---	---	0	0
TYRP1	7306	broad.mit.edu	37	9	12698502	12698502	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr9:12698502G>T	ENST00000388918.5	+	4	889	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	TYRP1_ENST00000381136.2_Intron|TYRP1_ENST00000381137.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	254					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTTTGCAACGGGGAAAAATGT	0.408									Oculocutaneous Albinism				4	65	---	---	---	---	0	0
FOXJ2	55810	broad.mit.edu	37	12	8197495	8197495	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:8197495G>C	ENST00000162391.3	+	6	1903	c.758G>C	c.(757-759)tGg>tCg	p.W253S	FOXJ2_ENST00000428177.2_Missense_Mutation_p.W253S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	253					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GATCTAAGCTGGTCCTTCCGC	0.502													40	156	---	---	---	---	0	0
KSR2	283455	broad.mit.edu	37	12	117969491	117969491	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:117969491T>G	ENST00000425217.1	-	11	1676	c.1622A>C	c.(1621-1623)aAg>aCg	p.K541T	KSR2_ENST00000339824.5_Missense_Mutation_p.K570T|KSR2_ENST00000302438.5_Missense_Mutation_p.K267T|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	570	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACTGCTGCTTGTATTTGTA	0.502													3	48	---	---	---	---	0	0
HCAR2	338442	broad.mit.edu	37	12	123186916	123186916	+	Silent	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:123186916G>A	ENST00000328880.5	-	1	974	c.915C>T	c.(913-915)ttC>ttT	p.F305F	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	305					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	TCAAAGTGGAGAAGAAGTTGG	0.532													17	61	---	---	---	---	0	0
SIAH3	283514	broad.mit.edu	37	13	46357972	46357972	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr13:46357972C>T	ENST00000400405.2	-	2	462	c.356G>A	c.(355-357)cGc>cAc	p.R119H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	119					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CACCTCCAGGCGGCCTTCCCA	0.672													18	62	---	---	---	---	0	0
ALDH1A3	220	broad.mit.edu	37	15	101425525	101425525	+	Silent	SNP	A	A	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr15:101425525A>C	ENST00000329841.5	+	2	685	c.153A>C	c.(151-153)acA>acC	p.T51T	ALDH1A3_ENST00000346623.6_Silent_p.T51T|RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000560555.1_3'UTR	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	51					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AGTTTGCTACATGTAACCCTT	0.343													3	65	---	---	---	---	0	0
EPHX3	79852	broad.mit.edu	37	19	15338333	15338333	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:15338333G>T	ENST00000221730.3	-	7	1218	c.998C>A	c.(997-999)cCa>cAa	p.P333Q	EPHX3_ENST00000435261.1_Missense_Mutation_p.P333Q|EPHX3_ENST00000602233.1_Missense_Mutation_p.P333Q	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	333						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCCTATGCCTGGCAGGATGTG	0.617													16	57	---	---	---	---	0	0
LSR	51599	broad.mit.edu	37	19	35757262	35757262	+	Splice_Site	SNP	T	T	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:35757262T>C	ENST00000602122.1	+	5	1353	c.866T>C	c.(865-867)cTg>cCg	p.L289P	LSR_ENST00000347609.4_Splice_Site_p.L271P|LSR_ENST00000354900.3_Splice_Site_p.L289P|LSR_ENST00000360798.3_Splice_Site_p.V240A|LSR_ENST00000361790.3_Splice_Site_p.L308P|LSR_ENST00000427250.1_Splice_Site_p.M152T			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	308	Cys-rich.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCCTCACAGTGTATGCCGCC	0.632													29	100	---	---	---	---	0	0
CST5	1473	broad.mit.edu	37	20	23860160	23860160	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:23860160T>C	ENST00000304710.4	-	1	227	c.154A>G	c.(154-156)Atc>Gtc	p.I52V		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	52						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TACTCGCTGATGGCAAAGTCC	0.582													8	244	---	---	---	---	0	0
ASTN1	460	broad.mit.edu	37	1	177030386	177030386	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:177030386G>C	ENST00000367654.3	-	2	510	c.299C>G	c.(298-300)aCa>aGa	p.T100R	ASTN1_ENST00000424564.2_Missense_Mutation_p.T100R|ASTN1_ENST00000361833.2_Missense_Mutation_p.T100R|ASTN1_ENST00000367657.3_Missense_Mutation_p.T100R|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATATCCTCTGTGTTCCCTGA	0.488													3	148	---	---	---	---	0	0
RIF1	55183	broad.mit.edu	37	2	152311552	152311552	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:152311552A>G	ENST00000243326.5	+	21	2971	c.2488A>G	c.(2488-2490)Att>Gtt	p.I830V	RIF1_ENST00000444746.2_Missense_Mutation_p.I830V|RIF1_ENST00000428287.2_Missense_Mutation_p.I830V|RIF1_ENST00000453091.2_Missense_Mutation_p.I830V|RIF1_ENST00000430328.2_Missense_Mutation_p.I830V			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCTCTTCACTATTGGCAACTC	0.383													3	137	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179408725	179408725	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:179408725C>T	ENST00000589042.1	-	346	96370	c.96146G>A	c.(96145-96147)aGc>aAc	p.S32049N	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29481N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23109N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22984N|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23176N|TTN_ENST00000591111.1_Missense_Mutation_p.S30408N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30408	Fibronectin type-III 132.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCCTGCTTGCTCCACGTTAT	0.493													27	132	---	---	---	---	0	0
ORMDL1	94101	broad.mit.edu	37	2	190640394	190640394	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:190640394G>T	ENST00000325795.3	-	2	1009	c.223C>A	c.(223-225)Cct>Act	p.P75T	ORMDL1_ENST00000409519.1_Missense_Mutation_p.P75T|ORMDL1_ENST00000392349.4_Missense_Mutation_p.P75T|ORMDL1_ENST00000392350.3_Missense_Mutation_p.P75T			Q9P0S3	ORML1_HUMAN	ORM1-like 1 (S. cerevisiae)	75					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			CCCTGGTCAGGAGTTTCGAAA	0.378													21	51	---	---	---	---	0	0
CAMK1	8536	broad.mit.edu	37	3	9804662	9804662	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:9804662A>T	ENST00000256460.3	-	5	542	c.365T>A	c.(364-366)aTc>aAc	p.I122N	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	122	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CACCTGGAAGATGAGGCGGCT	0.597													16	35	---	---	---	---	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111793168	111793168	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:111793168T>A	ENST00000452346.2	+	14	1695	c.1692T>A	c.(1690-1692)ttT>ttA	p.F564L	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F438L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	564	LDL-receptor class A 3.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACAGAACTTTTAAGTGTGGCA	0.368													8	92	---	---	---	---	0	0
ITGB5	3693	broad.mit.edu	37	3	124527930	124527930	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:124527930C>G	ENST00000296181.4	-	9	1498	c.1202G>C	c.(1201-1203)tGc>tCc	p.C401S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	401					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCCATCTTGGCAGGTAGCAGT	0.473													22	129	---	---	---	---	0	0
UROC1	131669	broad.mit.edu	37	3	126207086	126207086	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:126207086C>T	ENST00000290868.2	-	18	1798	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H	UROC1_ENST00000383579.3_Missense_Mutation_p.R642H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	582					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GGTGGCTCCGCGACAGGCATC	0.612													6	175	---	---	---	---	0	0
TRIM42	287015	broad.mit.edu	37	3	140406842	140406842	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:140406842G>A	ENST00000286349.3	+	3	1509	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	440	COS.					intracellular	zinc ion binding	p.V440L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACTGGCCAGGTGGCATTCCT	0.517													6	57	---	---	---	---	0	0
KLHL6	89857	broad.mit.edu	37	3	183273149	183273149	+	Splice_Site	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:183273149C>G	ENST00000341319.3	-	1	328	c.293G>C	c.(292-294)aGg>aCg	p.R98T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	98	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCATGCTGACCTGAAATAGTT	0.493													7	94	---	---	---	---	0	0
PPP3CA	5530	broad.mit.edu	37	4	102001731	102001731	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr4:102001731T>A	ENST00000394854.3	-	8	1596	c.913A>T	c.(913-915)Att>Ttt	p.I305F	PPP3CA_ENST00000323055.6_Missense_Mutation_p.I305F|PPP3CA_ENST00000507176.1_Missense_Mutation_p.I207F|PPP3CA_ENST00000394853.4_Missense_Mutation_p.I305F|PPP3CA_ENST00000523694.2_Missense_Mutation_p.I238F|PPP3CA_ENST00000512215.1_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	305					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCTGAAAAAATTGTAATTAGA	0.313													23	35	---	---	---	---	0	0
ESM1	11082	broad.mit.edu	37	5	54281325	54281325	+	Silent	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:54281325C>G	ENST00000381405.4	-	1	166	c.21G>C	c.(19-21)ctG>ctC	p.L7L	ESM1_ENST00000381403.4_Silent_p.L7L|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	7					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GGAGCGTGGTCAGCAGCAAGA	0.597													3	65	---	---	---	---	0	0
SYNPO	11346	broad.mit.edu	37	5	150029504	150029504	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:150029504G>A	ENST00000394243.1	+	3	2773	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	SYNPO_ENST00000307662.4_Missense_Mutation_p.R556H|SYNPO_ENST00000522122.1_Missense_Mutation_p.R800H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R556H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	800	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTCCTGCGCCCAGAGCCC	0.667													32	160	---	---	---	---	0	0
DDX43	55510	broad.mit.edu	37	6	74111706	74111706	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:74111706G>C	ENST00000370336.4	+	4	719	c.561G>C	c.(559-561)aaG>aaC	p.K187N	DDX43_ENST00000539829.1_Missense_Mutation_p.K187N	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	187						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AAAAAACAAAGTGGGCAGGTC	0.358													52	80	---	---	---	---	0	0
MDFIC	29969	broad.mit.edu	37	7	114655934	114655934	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:114655934C>A	ENST00000257724.3	+	5	1276	c.1013C>A	c.(1012-1014)tCa>tAa	p.S338*	MDFIC_ENST00000393486.1_Nonsense_Mutation_p.S229*			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	229					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TGTTGTGAATCATCAGACTGC	0.408													4	170	---	---	---	---	0	0
CSMD1	64478	broad.mit.edu	37	8	2806884	2806884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr8:2806884C>A	ENST00000520002.1	-	69	10897	c.10342G>T	c.(10342-10344)Gga>Tga	p.G3448*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3270*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3447*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3448*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3448						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTAAATCCTCCTCTTTCA	0.318													14	32	---	---	---	---	0	0
CENPP	401541	broad.mit.edu	37	9	95375385	95375385	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:95375385C>T	ENST00000375587.3	+	8	1336	c.821C>T	c.(820-822)gCt>gTt	p.A274V	CENPP_ENST00000375579.3_Missense_Mutation_p.A101V|CENPP_ENST00000375576.1_Missense_Mutation_p.A88V	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	274					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						ATCGAAGCTGCTCTGGAAAGC	0.473													46	102	---	---	---	---	0	0
XPA	7507	broad.mit.edu	37	9	100447235	100447235	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:100447235T>A	ENST00000375128.4	-	5	707	c.643A>T	c.(643-645)Aaa>Taa	p.K215*		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	215					nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				TTCTTCTGTTTCATTTTTTCT	0.353			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	41	---	---	---	---	0	0
IPMK	253430	broad.mit.edu	37	10	59975932	59975932	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:59975932T>C	ENST00000373935.3	-	4	842	c.520A>G	c.(520-522)Att>Gtt	p.I174V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	174						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AAGAACCCAATCTCTTCCATT	0.388													39	85	---	---	---	---	0	0
TLX1NB	100038246	broad.mit.edu	37	10	102849597	102849597	+	Silent	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:102849597G>A	ENST00000445873.1	-	3	1342	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	22																	CTTGGGAAAGGAGAGAGTGCT	0.662													8	11	---	---	---	---	0	0
MMP3	4314	broad.mit.edu	37	11	102710883	102710883	+	Silent	SNP	A	A	G	rs150024311		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:102710883A>G	ENST00000299855.5	-	6	1147	c.891T>C	c.(889-891)gaT>gaC	p.D297D		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	297	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TGCTGACAGCATCAAAGGACA	0.493													4	134	---	---	---	---	0	0
SIAE	54414	broad.mit.edu	37	11	124539286	124539286	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:124539286T>G	ENST00000263593.3	-	2	371	c.199A>C	c.(199-201)Acc>Ccc	p.T67P	SIAE_ENST00000545756.1_Missense_Mutation_p.T32P			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	67						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TTCATGATGGTTTCCTGACCT	0.522											OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	64	---	---	---	---	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454931	84454931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:84454931G>A	ENST00000377084.2	-	1	1597	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	238	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGACCACTCGGCCGATCAGG	0.522													11	68	---	---	---	---	0	0
CDH24	64403	broad.mit.edu	37	14	23517622	23517622	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:23517622T>C	ENST00000397359.3	-	13	2286	c.2027A>G	c.(2026-2028)gAg>gGg	p.E676G	CDH24_ENST00000267383.5_Missense_Mutation_p.E676G|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.E638G|CDH24_ENST00000487137.2_Missense_Mutation_p.E638G	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	676					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCGGACGTCCTCCTCCTCCAG	0.667													4	167	---	---	---	---	0	0
CGNL1	84952	broad.mit.edu	37	15	57837818	57837818	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr15:57837818C>T	ENST00000281282.5	+	17	3607	c.3529C>T	c.(3529-3531)Cgg>Tgg	p.R1177W		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1177						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCTCAGCAACCGGCGGCTGGA	0.602													3	32	---	---	---	---	0	0
MYH4	4622	broad.mit.edu	37	17	10350362	10350362	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:10350362C>T	ENST00000255381.2	-	35	5247	c.5137G>A	c.(5137-5139)Gcc>Acc	p.A1713T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1713					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGTTCACTGGCATCCAGAAGC	0.488													41	66	---	---	---	---	0	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150283	39150283	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:39150283C>G	ENST00000391586.1	-	1	102	c.67G>C	c.(67-69)Gac>Cac	p.D23H		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	23	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGATTTGTCAGAGGAGCAG	0.582													9	156	---	---	---	---	0	0
IMPACT	55364	broad.mit.edu	37	18	22008832	22008832	+	Splice_Site	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:22008832G>A	ENST00000284202.4	+	3	306		c.e3-1			NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein											endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CTGCATTGTAGGTGATGCTGC	0.373													6	50	---	---	---	---	0	0
ZNF317	57693	broad.mit.edu	37	19	9271565	9271565	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:9271565A>G	ENST00000247956.6	+	7	1549	c.1244A>G	c.(1243-1245)aAg>aGg	p.K415R	ZNF317_ENST00000360385.3_Missense_Mutation_p.K383R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACATCGTCAAGAAACCCGTG	0.502													24	42	---	---	---	---	0	0
MAST1	22983	broad.mit.edu	37	19	12978320	12978320	+	Silent	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:12978320C>T	ENST00000251472.4	+	19	2211	c.2172C>T	c.(2170-2172)caC>caT	p.H724H		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	724					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGTCGCAGCACGAGCCCAAGA	0.652													5	126	---	---	---	---	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122423	17122423	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:17122423C>A	ENST00000443236.1	-	4	584	c.553G>T	c.(553-555)Gtg>Ttg	p.V185L	CPAMD8_ENST00000388925.4_Missense_Mutation_p.V138L|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	138						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGTCTGTACACAGGCTTGTCC	0.637													5	173	---	---	---	---	0	0
IFI30	10437	broad.mit.edu	37	19	18285887	18285887	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:18285887C>A	ENST00000407280.3	+	2	345	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30						antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CTGAAGAAGTCCAATGCACCG	0.582													13	31	---	---	---	---	0	0
TRIM28	10155	broad.mit.edu	37	19	59059687	59059687	+	Silent	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:59059687C>G	ENST00000253024.5	+	8	1417	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	TRIM28_ENST00000341753.6_Silent_p.L294L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	376	Leucine zipper alpha helical coiled-coil region.|RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCGGGCCCTCAAGATGATTG	0.542													3	88	---	---	---	---	0	0
OR13H1	347468	broad.mit.edu	37	X	130678204	130678204	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:130678204C>T	ENST00000338616.3	+	1	255	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCACTTTGACCCCAACCTCCA	0.413													70	49	---	---	---	---	0	0
EPHA8	2046	broad.mit.edu	37	1	22924681	22924681	+	Silent	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:22924681C>T	ENST00000166244.3	+	12	2226	c.2154C>T	c.(2152-2154)aaC>aaT	p.N718N		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	718	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACATGGAGAACGGCTCTCTGG	0.617													4	137	---	---	---	---	0	0
C1orf227	149643	broad.mit.edu	37	1	213009355	213009355	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:213009355A>G	ENST00000332912.3	-	2	244	c.137T>C	c.(136-138)gTt>gCt	p.V46A		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	46										kidney(1)|large_intestine(1)|lung(1)	3						CCTCTTTTGAACTCTCAGTAA	0.468													22	130	---	---	---	---	0	0
TRMT61B	55006	broad.mit.edu	37	2	29074004	29074004	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:29074004C>T	ENST00000306108.5	-	5	1269	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	416							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						AGTTGTACATCTGTGTTGATT	0.358													4	43	---	---	---	---	0	0
PPP1R21	129285	broad.mit.edu	37	2	48718172	48718172	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:48718172A>G	ENST00000294952.8	+	15	1619	c.1462A>G	c.(1462-1464)Agc>Ggc	p.S488G	PPP1R21_ENST00000281394.4_Missense_Mutation_p.S488G|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S488G	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	488										endometrium(2)|kidney(4)|lung(9)	15						ATCCTTCTTCAGCAACAATTT	0.343													19	112	---	---	---	---	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88887559	88887559	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:88887559T>C	ENST00000303236.3	-	8	1671	c.1370A>G	c.(1369-1371)gAt>gGt	p.D457G	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D306G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	457					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	p.D457G(1)		ovary(3)	3						AGAAAACTTATCATTACTGAG	0.264													5	91	---	---	---	---	0	0
CCR2	729230	broad.mit.edu	37	3	46399500	46399500	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr3:46399500G>T	ENST00000292301.4	+	2	967	c.482G>T	c.(481-483)aGt>aTt	p.S161I	CCR2_ENST00000400888.2_Missense_Mutation_p.S161I|CCR2_ENST00000445132.2_Missense_Mutation_p.S161I|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	161					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGGTGACAAGTGTGATCACC	0.443													5	253	---	---	---	---	0	0
GPR150	285601	broad.mit.edu	37	5	94956112	94956112	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:94956112C>G	ENST00000380007.2	+	1	331	c.133C>G	c.(133-135)Cgc>Ggc	p.R45G		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	45						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CCGCCGCGTCCGCCTGGTGTT	0.726													6	25	---	---	---	---	0	0
FAT2	2196	broad.mit.edu	37	5	150947124	150947124	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:150947124G>A	ENST00000261800.5	-	1	1381	c.1369C>T	c.(1369-1371)Ctc>Ttc	p.L457F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	457	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTTGAAGAGGGGGGCATGG	0.552													4	135	---	---	---	---	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152162	151152162	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr6:151152162G>A	ENST00000367328.1	+	16	2227	c.1915G>A	c.(1915-1917)Ggg>Agg	p.G639R	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G639R	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	639					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CAAAACAGAAGGGCAGGAGGA	0.473													4	26	---	---	---	---	0	0
CYP7A1	1581	broad.mit.edu	37	8	59410894	59410894	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr8:59410894A>G	ENST00000301645.3	-	2	352	c.215T>C	c.(214-216)aTg>aCg	p.M72T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	72					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATATTTTCCCATTAGTTTGCA	0.388									Neonatal Giant Cell Hepatitis				33	134	---	---	---	---	0	0
CCDC180	100499483	broad.mit.edu	37	9	100071830	100071830	+	Silent	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:100071830G>A	ENST00000375202.2	+	17	1688	c.336G>A	c.(334-336)caG>caA	p.Q112Q	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Silent_p.Q251Q|CCDC180_ENST00000411667.2_Silent_p.Q112Q|CCDC180_ENST00000357054.1_Silent_p.Q251Q|CCDC180_ENST00000529487.1_Silent_p.Q112Q|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180																		CCCGACAGCAGAAGTGGATGC	0.572													8	72	---	---	---	---	0	0
INVS	27130	broad.mit.edu	37	9	103055173	103055173	+	Silent	SNP	T	T	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:103055173T>C	ENST00000262457.2	+	14	2819	c.2634T>C	c.(2632-2634)gaT>gaC	p.D878D	INVS_ENST00000541287.1_Silent_p.D782D|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	878					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AGGAGACTGATCCAGCACCTG	0.527													3	56	---	---	---	---	0	0
MURC	347273	broad.mit.edu	37	9	103348314	103348314	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:103348314G>T	ENST00000307584.5	+	2	741	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	226					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AACTAGAATAGTGACCCCGGA	0.458													5	177	---	---	---	---	0	0
RP11-85G18.6	0	broad.mit.edu	37	10	27537935	27537935	+	RNA	SNP	T	T	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr10:27537935T>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AGGCCTACTGTTCCTCTGGTG	0.507													3	131	---	---	---	---	0	0
C10orf90	118611	broad.mit.edu	37	10	128147783	128147783	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr10:128147783C>T	ENST00000284694.7	-	6	1843	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	C10orf90_ENST00000356858.3_Missense_Mutation_p.A528T|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.A672T|C10orf90_ENST00000454341.1_Missense_Mutation_p.A478T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	575										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACTTCCAGTGCTTCCTATGCA	0.483													4	72	---	---	---	---	0	0
OR5T3	390154	broad.mit.edu	37	11	56020136	56020136	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:56020136T>C	ENST00000303059.3	+	1	461	c.461T>C	c.(460-462)gTa>gCa	p.V154A		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GATCACTATGTAGCCATCTAC	0.423													7	173	---	---	---	---	0	0
OTUB1	55611	broad.mit.edu	37	11	63764357	63764357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:63764357G>T	ENST00000538426.1	+	5	411	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	OTUB1_ENST00000422031.2_Nonsense_Mutation_p.E160*|OTUB1_ENST00000428192.2_Nonsense_Mutation_p.E123*|OTUB1_ENST00000543988.1_Nonsense_Mutation_p.E93*|OTUB1_ENST00000535715.1_Nonsense_Mutation_p.E123*|OTUB1_ENST00000543004.1_Nonsense_Mutation_p.E132*|OTUB1_ENST00000541478.1_Intron	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	123	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						CAAGAGCAAGGAAGACCTGGT	0.622													13	42	---	---	---	---	0	0
VWA8	23078	broad.mit.edu	37	13	42404698	42404698	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr13:42404698T>G	ENST00000379310.3	-	14	1735	c.1667A>C	c.(1666-1668)gAg>gCg	p.E556A	VWA8_ENST00000281496.6_Missense_Mutation_p.E556A	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CAGTTGCAGCTCCTCCTTTAA	0.368													10	47	---	---	---	---	0	0
GRIN2A	0	broad.mit.edu	37	16	9858484	9858484	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr16:9858484C>A	ENST00000396573.2	-	14	3226	c.2917G>T	c.(2917-2919)Gat>Tat	p.D973Y	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D973Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D973Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D816Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	973					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGAGGTTATCCTTCTGCCGG	0.463													12	74	---	---	---	---	0	0
MPP2	4355	broad.mit.edu	37	17	41957294	41957294	+	Silent	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr17:41957294G>A	ENST00000269095.4	-	11	1513	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	MPP2_ENST00000523501.1_Silent_p.S392S|MPP2_ENST00000461854.1_Silent_p.S427S|MPP2_ENST00000377184.3_Silent_p.S420S|MPP2_ENST00000536246.1_Silent_p.S392S|MPP2_ENST00000518766.1_Silent_p.S448S|MPP2_ENST00000520305.1_Silent_p.S264S	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	427	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TCTCCCCACGGGACACAAAGC	0.627											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	114	---	---	---	---	0	0
RAB37	326624	broad.mit.edu	37	17	72741504	72741504	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr17:72741504A>G	ENST00000392614.4	+	9	734	c.641A>G	c.(640-642)tAt>tGt	p.Y214C	RAB37_ENST00000392613.5_Missense_Mutation_p.Y209C|RAB37_ENST00000528438.1_Missense_Mutation_p.Y182C|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000392610.1_3'UTR|RAB37_ENST00000392612.3_Missense_Mutation_p.Y172C|RAB37_ENST00000392615.5_Missense_Mutation_p.Y177C|RAB37_ENST00000402449.4_Missense_Mutation_p.Y202C	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	209					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						ATCCGAGACTATGTAGAGTCC	0.612													4	109	---	---	---	---	0	0
VAPA	9218	broad.mit.edu	37	18	9936196	9936196	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr18:9936196G>C	ENST00000400000.2	+	3	577	c.322G>C	c.(322-324)Gat>Cat	p.D108H	VAPA_ENST00000340541.4_Missense_Mutation_p.D108H|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	108	MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						AAACACTTCAGATATGGAAGC	0.348													4	107	---	---	---	---	0	0
PRX	57716	broad.mit.edu	37	19	40903197	40903197	+	Silent	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:40903197G>A	ENST00000324001.7	-	7	1332	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	354					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCATCTTCAGGGCCACCTCAG	0.642													3	70	---	---	---	---	0	0
ZIM2	23619	broad.mit.edu	37	19	57301240	57301240	+	Splice_Site	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:57301240C>T	ENST00000391708.3	-	9	1019	c.477G>A	c.(475-477)caG>caA	p.Q159Q	ZIM2_ENST00000601070.1_Splice_Site_p.Q159Q|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Splice_Site_p.Q159Q|ZIM2_ENST00000599935.1_Splice_Site_p.Q159Q|ZIM2_ENST00000593711.1_Splice_Site_p.Q159Q|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CCTGACTCACCTGGGACCCAG	0.433													4	20	---	---	---	---	0	0
PPP6R2	9701	broad.mit.edu	37	22	50862022	50862022	+	Silent	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr22:50862022C>T	ENST00000359139.3	+	10	1498	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	PPP6R2_ENST00000395741.3_Silent_p.L369L|PPP6R2_ENST00000395744.3_Silent_p.L368L|PPP6R2_ENST00000216061.5_Silent_p.L368L	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	368						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TCTGCCGGCTCAACACGATGG	0.627													4	45	---	---	---	---	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931635	102931635	+	Silent	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chrX:102931635G>A	ENST00000423833.2	-	3	1546	c.321C>T	c.(319-321)ccC>ccT	p.P107P	MORF4L2_ENST00000451301.1_Silent_p.P107P|MORF4L2_ENST00000433176.2_Silent_p.P107P|MORF4L2_ENST00000360458.1_Silent_p.P107P|MORF4L2_ENST00000441076.2_Silent_p.P107P|MORF4L2_ENST00000422154.2_Silent_p.P107P|MORF4L2_ENST00000492116.1_5'UTR			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	107					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTTCAACAGTGGGGTCTGCCC	0.493													4	81	---	---	---	---	0	0
PADI1	29943	broad.mit.edu	37	1	17548935	17548935	+	Silent	SNP	C	C	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:17548935C>A	ENST00000375471.4	+	2	335	c.243C>A	c.(241-243)ggC>ggA	p.G81G		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	81					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TATCTGTGGGCACAGCCAGTA	0.517													7	116	---	---	---	---	0	0
DAB1	1600	broad.mit.edu	37	1	57535038	57535038	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:57535038A>G	ENST00000371236.2	-	8	921	c.658T>C	c.(658-660)Tat>Cat	p.Y220H	DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.Y220H|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.Y220H|DAB1_ENST00000439789.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	220					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TATACCTGATAAATGTTTTCT	0.423													4	143	---	---	---	---	0	0
RSAD2	91543	broad.mit.edu	37	2	7030377	7030377	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr2:7030377T>C	ENST00000382040.3	+	4	945	c.809T>C	c.(808-810)gTt>gCt	p.V270A	RSAD2_ENST00000541728.1_Missense_Mutation_p.V163A	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	270					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAAGATTTGTTATTGGTGAT	0.413													4	84	---	---	---	---	0	0
DRC1	92749	broad.mit.edu	37	2	26672885	26672885	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr2:26672885C>G	ENST00000288710.2	+	12	1605	c.1531C>G	c.(1531-1533)Ctg>Gtg	p.L511V		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		AGAGAGCAAGCTGCTGAGCCT	0.607													4	34	---	---	---	---	0	0
SESTD1	91404	broad.mit.edu	37	2	180008456	180008456	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr2:180008456C>A	ENST00000428443.3	-	9	1028	c.712G>T	c.(712-714)Gat>Tat	p.D238Y		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	238					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGTTCATCATCCATAGGAGAC	0.428													5	91	---	---	---	---	0	0
SETD2	29072	broad.mit.edu	37	3	47163454	47163454	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr3:47163454T>A	ENST00000409792.3	-	3	2714	c.2672A>T	c.(2671-2673)aAg>aTg	p.K891M		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACTGTCCACCTTTATTCCTGG	0.388			"""N, F, S, Mis"""		clear cell renal carcinoma								13	82	---	---	---	---	0	0
PCDHGC3	0	broad.mit.edu	37	5	140857775	140857775	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr5:140857775C>G	ENST00000308177.3	+	1	2196	c.2092C>G	c.(2092-2094)Cta>Gta	p.L698V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCTTTCTCTAATCCTGGT	0.498											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	299	---	---	---	---	0	0
DAXX	1616	broad.mit.edu	37	6	33287278	33287278	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr6:33287278T>C	ENST00000374542.5	-	6	2023	c.1819A>G	c.(1819-1821)Atg>Gtg	p.M607V	DAXX_ENST00000414083.2_Missense_Mutation_p.M532V|DAXX_ENST00000266000.6_Missense_Mutation_p.M607V	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	607	Interaction with MAP3K5.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GAAGAGACCATGCCTGCTCCA	0.522			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								6	71	---	---	---	---	0	0
GINM1	116254	broad.mit.edu	37	6	149903651	149903651	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr6:149903651C>G	ENST00000367419.5	+	7	914	c.793C>G	c.(793-795)Cag>Gag	p.Q265E		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1									p.Q265*(1)									AGTATTCTTTCAGTTTTTGAA	0.363													13	148	---	---	---	---	0	0
CHCHD2	51142	broad.mit.edu	37	7	56172077	56172077	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr7:56172077C>A	ENST00000395422.3	-	2	304	c.142G>T	c.(142-144)Gct>Tct	p.A48S		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	48						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGGGGCGCAGCAGCAGAAGAG	0.657													3	21	---	---	---	---	0	0
NRCAM	4897	broad.mit.edu	37	7	107816881	107816881	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr7:107816881C>A	ENST00000379028.3	-	27	3615	c.3145G>T	c.(3145-3147)Gat>Tat	p.D1049Y	NRCAM_ENST00000413765.2_Missense_Mutation_p.D1030Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D1030Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D1033Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.D1049Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D1049Y			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1049					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACCTTCATCCACAGTTGTT	0.308													6	111	---	---	---	---	0	0
ZHX1	11244	broad.mit.edu	37	8	124267245	124267245	+	Silent	SNP	A	A	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr8:124267245A>G	ENST00000395571.3	-	3	1559	c.942T>C	c.(940-942)atT>atC	p.I314I	ZHX1_ENST00000297857.2_Silent_p.I314I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Silent_p.I314I	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	314	Required for dimerization.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAGAACTGTAATTTCTGACA	0.403													8	274	---	---	---	---	0	0
CDH23	64072	broad.mit.edu	37	10	73565668	73565668	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr10:73565668G>T	ENST00000224721.6	+	55	7998	c.7993G>T	c.(7993-7995)Gac>Tac	p.D2665Y	CDH23_ENST00000398788.3_Missense_Mutation_p.D420Y|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2660	Cadherin 25.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGCAACCGGGACTGGGAGTT	0.652													3	31	---	---	---	---	0	0
SLIT1	6585	broad.mit.edu	37	10	98806792	98806792	+	Silent	SNP	C	C	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr10:98806792C>T	ENST00000266058.4	-	17	1910	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	SLIT1_ENST00000371070.4_Silent_p.L555L|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	555					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGTGGCCTCCAGGATGGAAA	0.423													5	53	---	---	---	---	0	0
PRMT3	10196	broad.mit.edu	37	11	20409624	20409624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:20409624G>T	ENST00000331079.6	+	2	305	c.88G>T	c.(88-90)Gag>Tag	p.E30*	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	30							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CAGCGGGGACGAGGCCGCCTG	0.647													7	53	---	---	---	---	0	0
CARD16	114769	broad.mit.edu	37	11	104915359	104915359	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:104915359G>T	ENST00000375706.2	-	2	51	c.34C>A	c.(34-36)Ctg>Atg	p.L12M	CASP1_ENST00000593315.1_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.L12M|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.L12M|CASP1_ENST00000415981.2_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TGGATAAACAGCTTTCTCTTC	0.418													21	220	---	---	---	---	0	0
DSCAML1	57453	broad.mit.edu	37	11	117332280	117332280	+	Silent	SNP	G	G	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:117332280G>A	ENST00000321322.6	-	18	3479	c.3478C>T	c.(3478-3480)Ctg>Ttg	p.L1160L	DSCAML1_ENST00000527706.1_Silent_p.L890L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1100	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGATGGACAGGGCCCGGACG	0.607													3	89	---	---	---	---	0	0
KLHL42	57542	broad.mit.edu	37	12	27934042	27934042	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:27934042G>A	ENST00000381271.2	+	1	1090	c.779G>A	c.(778-780)gGg>gAg	p.G260E		NM_020782.1	NP_065833.1			kelch-like family member 42																		ATAGTGGGCGGGTACAGGATC	0.582													3	41	---	---	---	---	0	0
TARBP2	6895	broad.mit.edu	37	12	53897517	53897517	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:53897517C>G	ENST00000266987.2	+	4	830	c.347C>G	c.(346-348)tCt>tGt	p.S116C	TARBP2_ENST00000552857.1_Missense_Mutation_p.S25C|TARBP2_ENST00000456234.2_Missense_Mutation_p.S95C|TARBP2_ENST00000394357.2_Missense_Mutation_p.S95C	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	116					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						CCCCTAGACTCTTCACTGCCT	0.557													5	127	---	---	---	---	0	0
GPR84	0	broad.mit.edu	37	12	54757587	54757587	+	Silent	SNP	G	G	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:54757587G>A	ENST00000551809.1	-	1	684	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.L17L|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	17						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGATAGCCCAGCACAGACTCA	0.557													3	39	---	---	---	---	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366047	7366047	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:7366047A>C	ENST00000311403.4	-	4	2593	c.2254T>G	c.(2254-2256)Tcc>Gcc	p.S752A	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S752A	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GAGCTGTGGGAGCCCCCACCG	0.701													4	83	---	---	---	---	0	0
LHX1	3975	broad.mit.edu	37	17	35295534	35295534	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:35295534C>A	ENST00000254457.5	+	1	1451	c.40C>A	c.(40-42)Cgc>Agc	p.R14S		NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	14	LIM zinc-binding 1.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CATCCTGGACCGCTTTCTCTT	0.567													3	88	---	---	---	---	0	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165307	39165307	+	Missense_Mutation	SNP	C	C	T	rs141325742	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:39165307C>T	ENST00000391588.1	-	1	59	c.20G>A	c.(19-21)cGc>cAc	p.R7H	KRTAP3-1_ENST00000581033.1_Intron	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	7	4 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GCTGCAGGAGCGGAGAGCACA	0.552													10	108	---	---	---	---	0	0
ALPK2	115701	broad.mit.edu	37	18	56203463	56203463	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr18:56203463G>C	ENST00000361673.3	-	5	4169	c.3956C>G	c.(3955-3957)cCc>cGc	p.P1319R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1319							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTGATGGTGGGCTCTTCGCC	0.517													3	90	---	---	---	---	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957350	50957350	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:50957350C>T	ENST00000357701.5	+	17	1874	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	608	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATTGAGAGTGCGCAGCGGGAA	0.602													4	20	---	---	---	---	0	0
IGLV3-27	0	broad.mit.edu	37	22	23011003	23011003	+	RNA	SNP	G	G	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr22:23011003G>T	ENST00000390304.2	+	0	104																											CCTCCTATGAGCTGACACAGC	0.562													6	156	---	---	---	---	0	0
AKR7L	246181	broad.mit.edu	37	1	19597014	19597014	+	RNA	SNP	G	G	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:19597014G>T	ENST00000420396.2	-	0	437				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTTCCCAGGCGGCATAGTTGG	0.622													3	74	---	---	---	---	0	0
MACF1	23499	broad.mit.edu	37	1	39888543	39888543	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:39888543G>C	ENST00000564288.1	+	60	16897	c.16120G>C	c.(16120-16122)Gtg>Ctg	p.V5374L	MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5379					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGTATAAAGTGGTGAAAGC	0.458													4	29	---	---	---	---	0	0
SYCP1	6847	broad.mit.edu	37	1	115489915	115489915	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:115489915C>A	ENST00000369522.3	+	27	2536	c.2296C>A	c.(2296-2298)Caa>Aaa	p.Q766K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	766					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTAAGAAGCAACTTGAAAT	0.318													12	58	---	---	---	---	0	0
RYR2	6262	broad.mit.edu	37	1	237753955	237753955	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:237753955G>A	ENST00000366574.2	+	31	4140	c.3823G>A	c.(3823-3825)Ggc>Agc	p.G1275S	RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1275	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1273R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGAATAGACGGCACCATAGA	0.423													19	105	---	---	---	---	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529936	80529936	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:80529936C>T	ENST00000295057.3	-	2	1665	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	337	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAGTTGCCATCGTAGCGCCCC	0.657										HNSCC(69;0.2)			4	22	---	---	---	---	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874185	88874185	+	Splice_Site	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:88874185T>C	ENST00000303236.3	-	13	3117	c.2816A>G	c.(2815-2817)aAg>aGg	p.K939R	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788R	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	939	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AATACAGACCTTGAGGTCCCT	0.488													4	17	---	---	---	---	0	0
ALPP	250	broad.mit.edu	37	2	233246234	233246234	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:233246234C>T	ENST00000392027.2	+	11	1606	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	446						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGCAGTCAGCAGTGCCCCTG	0.667													10	22	---	---	---	---	0	0
ZBBX	79740	broad.mit.edu	37	3	167000276	167000276	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:167000276T>C	ENST00000392766.2	-	19	2227	c.1887A>G	c.(1885-1887)aaA>aaG	p.K629K	ZBBX_ENST00000392767.2_Silent_p.K629K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000307529.5_Silent_p.K668K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	629						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCTCTGTGATTTCTGACCTA	0.353													3	70	---	---	---	---	0	0
OPA1	4976	broad.mit.edu	37	3	193361334	193361334	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:193361334G>A	ENST00000361510.2	+	15	1629	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I|OPA1_ENST00000361150.2_Missense_Mutation_p.M411I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	410					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CATCAGGCATGGCTCCTGACA	0.308													11	46	---	---	---	---	0	0
YTHDC1	91746	broad.mit.edu	37	4	69198540	69198540	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:69198540T>C	ENST00000344157.4	-	6	1334	c.999A>G	c.(997-999)ttA>ttG	p.L333L	YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Silent_p.L333L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	333										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGGAAGATGATAATTTCTCAT	0.328													4	46	---	---	---	---	0	0
CPA5	93979	broad.mit.edu	37	7	129989880	129989880	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr7:129989880A>G	ENST00000485477.1	+	4	1392	c.263A>G	c.(262-264)gAa>gGa	p.E88G	CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	88					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTTTCTCTGAACTGAAAGAC	0.527													11	101	---	---	---	---	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088476	43088476	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:43088476T>A	ENST00000359467.3	-	5	2036	c.1922A>T	c.(1921-1923)gAg>gTg	p.E641V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	641						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTCCACACTCATTACATTC	0.388													4	107	---	---	---	---	0	0
KAT6B	23522	broad.mit.edu	37	10	76735743	76735743	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:76735743A>T	ENST00000287239.4	+	8	2137	c.1648A>T	c.(1648-1650)Atc>Ttc	p.I550F	KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	550	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GCTTTCTCATATCTATACCAC	0.512													9	59	---	---	---	---	0	0
RRM1	6240	broad.mit.edu	37	11	4130915	4130915	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:4130915C>A	ENST00000300738.5	+	5	633	c.429C>A	c.(427-429)taC>taA	p.Y143*	RRM1_ENST00000423050.2_Nonsense_Mutation_p.Y46*	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	143					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATTTCTCTTACAATTACTTCG	0.294													3	41	---	---	---	---	0	0
NLRP10	338322	broad.mit.edu	37	11	7982031	7982031	+	Missense_Mutation	SNP	C	C	A	rs74451065		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:7982031C>A	ENST00000328600.2	-	2	1289	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	376	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTAGGTGTCTCTAAGACAA	0.547													10	26	---	---	---	---	0	0
SCGB1A1	7356	broad.mit.edu	37	11	62189705	62189705	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:62189705T>C	ENST00000278282.2	+	2	129	c.68T>C	c.(67-69)aTc>aCc	p.I23T	CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	23					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						TCTGCAGAGATCTGCCCGAGC	0.557													3	65	---	---	---	---	0	0
FLI1	2313	broad.mit.edu	37	11	128680431	128680431	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:128680431G>A	ENST00000527786.2	+	9	1396	c.907G>A	c.(907-909)Gag>Aag	p.E303K	FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000344954.6_Missense_Mutation_p.E270K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TATCACCTGGGAGGGGACCAA	0.617			T	EWSR1	Ewing sarcoma								3	9	---	---	---	---	0	0
SCYL2	55681	broad.mit.edu	37	12	100706228	100706228	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:100706228G>C	ENST00000360820.2	+	6	1086	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	217	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTGTAAAGAATGGGACCC	0.343													3	41	---	---	---	---	0	0
DTX1	1840	broad.mit.edu	37	12	113532986	113532986	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:113532986A>G	ENST00000257600.3	+	7	2029	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	509					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGCATCGTCTATGACATCCCC	0.652													21	117	---	---	---	---	0	0
IPO5	3843	broad.mit.edu	37	13	98655152	98655152	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr13:98655152A>G	ENST00000261574.5	+	16	1592	c.1412A>G	c.(1411-1413)cAa>cGa	p.Q471R	IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R|IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	453					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATGGAAGACCAAGGCAATCAA	0.453													6	20	---	---	---	---	0	0
TEP1	7011	broad.mit.edu	37	14	20856080	20856080	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:20856080G>A	ENST00000262715.5	-	18	2708	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	890					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGAAACAGGAGCCAAGGGG	0.542													17	88	---	---	---	---	0	0
VRTN	55237	broad.mit.edu	37	14	74825501	74825501	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:74825501A>T	ENST00000256362.4	+	2	2256	c.2015A>T	c.(2014-2016)aAg>aTg	p.K672M		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	672					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCTACAAGGAGTTCAGT	0.567													24	74	---	---	---	---	0	0
SPTLC2	9517	broad.mit.edu	37	14	78021768	78021768	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:78021768C>A	ENST00000216484.2	-	8	1244	c.1051G>T	c.(1051-1053)Gcc>Tcc	p.A351S		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	351						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.A351S(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGGCCCAGGGCGCCAATGCTG	0.522													3	99	---	---	---	---	0	0
FAM174B	400451	broad.mit.edu	37	15	93173520	93173520	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr15:93173520C>G	ENST00000327355.5	-	2	698	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	134						integral to membrane				endometrium(2)|lung(1)	3						TCCACTCGCTCTGCTGGAGTG	0.478													8	26	---	---	---	---	0	0
CDH5	1003	broad.mit.edu	37	16	66422319	66422319	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:66422319G>A	ENST00000341529.3	+	4	740	c.592G>A	c.(592-594)Gag>Aag	p.E198K	CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	198	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GAAGGGGAAAGAGTATTTTGC	0.527													23	122	---	---	---	---	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704492	41704492	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:41704492G>C	ENST00000310054.4	+	4	835	c.619G>C	c.(619-621)Ggt>Cgt	p.G207R	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	207					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGCAGCTGGTGGTACCCTGCT	0.627													8	114	---	---	---	---	0	0
PLEKHA4	0	broad.mit.edu	37	19	49364696	49364696	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:49364696C>A	ENST00000263265.6	-	5	883	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	110	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCTCCCGGCCCATCTGGTCTA	0.612													7	78	---	---	---	---	0	0
GJB5	2709	broad.mit.edu	37	1	35223743	35223743	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:35223743C>T	ENST00000338513.1	+	2	985	c.812C>T	c.(811-813)aCc>aTc	p.T271I		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	271					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GTGAAGAAAACCATCTTGTGA	0.567													19	21	---	---	---	---	0	0
THRAP3	9967	broad.mit.edu	37	1	36769470	36769470	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:36769470G>A	ENST00000354618.5	+	12	2944	c.2720G>A	c.(2719-2721)gGt>gAt	p.G907D	THRAP3_ENST00000469141.2_Missense_Mutation_p.G907D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	907					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCCTCGGGGTCGGGGCCGG	0.597			T	USP6	aneurysmal bone cysts								12	74	---	---	---	---	0	0
TARS2	80222	broad.mit.edu	37	1	150471026	150471026	+	Silent	SNP	A	A	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:150471026A>G	ENST00000369064.3	+	11	1321	c.1287A>G	c.(1285-1287)cgA>cgG	p.R429R	TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000369054.2_Silent_p.R299R|TARS2_ENST00000606933.1_Silent_p.R347R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	429					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGCCCCTGCGACTAGCTGACT	0.647													5	84	---	---	---	---	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228776	204228776	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:204228776T>C	ENST00000272203.3	-	8	933	c.617A>G	c.(616-618)aAg>aGg	p.K206R	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K226R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	206	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCCTCGAGTCTTGGCCTCTGG	0.612													42	43	---	---	---	---	0	0
RYR2	6262	broad.mit.edu	37	1	237947227	237947227	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:237947227C>A	ENST00000366574.2	+	90	12532	c.12215C>A	c.(12214-12216)aCg>aAg	p.T4072K	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.T4056K|RYR2_ENST00000360064.6_Missense_Mutation_p.T4078K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4072					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGCGGAGACGGATGAGAAT	0.512													5	12	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179438180	179438180	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:179438180T>G	ENST00000589042.1	-	326	72903	c.72679A>C	c.(72679-72681)Aaa>Caa	p.K24227Q	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15354Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K22586Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K21659Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K15162Q|TTN_ENST00000359218.5_Missense_Mutation_p.K15287Q|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22586	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGGTTTTTGGGCGGATCA	0.448													3	114	---	---	---	---	0	0
HHIP	64399	broad.mit.edu	37	4	145567943	145567943	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr4:145567943G>A	ENST00000296575.3	+	1	771	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.C39Y	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	39	Arg-rich.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	p.C39Y(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGGAGAAGGTGCCTGAATGGG	0.577													4	59	---	---	---	---	0	0
PRDM9	56979	broad.mit.edu	37	5	23527460	23527460	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:23527460C>T	ENST00000296682.3	+	11	2445	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	755					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTCG	0.582										HNSCC(3;0.000094)			10	154	---	---	---	---	0	0
C7	730	broad.mit.edu	37	5	40958242	40958242	+	Silent	SNP	T	T	C			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:40958242T>C	ENST00000313164.9	+	11	1727	c.1368T>C	c.(1366-1368)caT>caC	p.H456H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	456	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACCCCTGTCATTGCCGGCCTT	0.473													4	76	---	---	---	---	0	0
MLXIP	22877	broad.mit.edu	37	12	122613718	122613718	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:122613718G>T	ENST00000319080.7	+	4	773	c.641G>T	c.(640-642)cGc>cTc	p.R214L				Q9HAP2	MLXIP_HUMAN	MLX interacting protein		Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TGGAAGAGCCGCATCGAGATT	0.547													3	21	---	---	---	---	0	0
IFT43	112752	broad.mit.edu	37	14	76543017	76543017	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr14:76543017C>A	ENST00000238628.6	+	4	298	c.293C>A	c.(292-294)gCt>gAt	p.A98D	IFT43_ENST00000314067.6_Intron	NM_052873.2	NP_443105.2	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	97					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTGGGGCTGGCTTCATTGGAA	0.463													3	46	---	---	---	---	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776773	31776773	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr15:31776773C>T	ENST00000382902.1	-	11	1618	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	OTUD7A_ENST00000307050.4_Missense_Mutation_p.R502H			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	502						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		cttctccttgcgctgcttctc	0.587													5	13	---	---	---	---	0	0
EARS2	124454	broad.mit.edu	37	16	23555840	23555840	+	Silent	SNP	C	C	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr16:23555840C>G	ENST00000449606.1	-	3	511	c.480G>C	c.(478-480)acG>acC	p.T160T	EARS2_ENST00000563459.1_Silent_p.T160T|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.T160T|EARS2_ENST00000563232.1_Silent_p.T160T	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	160					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	p.T160T(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CTTACCGGGGCGTCTGGTGGT	0.542													5	22	---	---	---	---	0	0
CDH8	1006	broad.mit.edu	37	16	62055221	62055221	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr16:62055221C>A	ENST00000577390.1	-	2	1041	c.87G>T	c.(85-87)atG>atT	p.M29I	CDH8_ENST00000584337.1_Missense_Mutation_p.M29I|CDH8_ENST00000577730.1_Missense_Mutation_p.M29I|CDH8_ENST00000299345.6_Missense_Mutation_p.M29I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	29					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATCGGAGCCATGTAAATGC	0.448													7	62	---	---	---	---	0	0
KRT25	147183	broad.mit.edu	37	17	38906790	38906790	+	Silent	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:38906790C>T	ENST00000312150.4	-	6	1077	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339A(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562													10	219	---	---	---	---	0	0
KRT33A	3883	broad.mit.edu	37	17	39502452	39502452	+	Silent	SNP	A	A	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:39502452A>G	ENST00000007735.3	-	7	1178	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	378	Tail.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGGACTTGTCACATGCATTGG	0.522													31	48	---	---	---	---	0	0
ALPK2	115701	broad.mit.edu	37	18	56246187	56246187	+	Silent	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr18:56246187C>T	ENST00000361673.3	-	4	2034	c.1821G>A	c.(1819-1821)caG>caA	p.Q607Q	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	607							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTGCTCTGCCTGGGTTGAAA	0.458											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	16	---	---	---	---	0	0
NLRP12	91662	broad.mit.edu	37	19	54308673	54308673	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:54308673A>G	ENST00000324134.6	-	5	2443	c.2275T>C	c.(2275-2277)Tgc>Cgc	p.C759R	NLRP12_ENST00000351894.4_Missense_Mutation_p.C759R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C759R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C760R|NLRP12_ENST00000391773.1_Missense_Mutation_p.C760R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C760R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C759R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C759R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	759					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGGTCCTCGCAGGCTGAGCTG	0.498													3	103	---	---	---	---	0	0
KIF16B	55614	broad.mit.edu	37	20	16348168	16348168	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr20:16348168C>A	ENST00000408042.1	-	23	3959	c.3802G>T	c.(3802-3804)Gtc>Ttc	p.V1268F	KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000378003.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCAGAAGGACTAGCGACTGG	0.483													22	36	---	---	---	---	0	0
C20orf85	128602	broad.mit.edu	37	20	56726068	56726068	+	Silent	SNP	T	T	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr20:56726068T>G	ENST00000371168.3	+	1	109	c.48T>G	c.(46-48)ctT>ctG	p.L16L		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	16										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GCATGAACCTTGTGGGTCAGG	0.637													7	5	---	---	---	---	0	0
P2RY10	0	broad.mit.edu	37	X	78216116	78216116	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chrX:78216116A>T	ENST00000171757.2	+	4	379	c.99A>T	c.(97-99)caA>caT	p.Q33H	P2RY10_ENST00000544091.1_Missense_Mutation_p.Q33H|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	33						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TGAAATTTCAATACTCCCTCT	0.428													8	61	---	---	---	---	0	0
SDF4	51150	broad.mit.edu	37	1	1154157	1154157	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:1154157C>T	ENST00000263741.7	-	5	1020	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	SDF4_ENST00000360001.6_Missense_Mutation_p.R243Q	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	243	EF-hand 4.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		ACCCAGGTCCCGGACGATCTC	0.697													6	192	---	---	---	---	0	0
KCNA3	3738	broad.mit.edu	37	1	111216759	111216759	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:111216759C>T	ENST00000369769.2	-	1	896	c.673G>A	c.(673-675)Gag>Aag	p.E225K		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	225						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGGGTACTCGAAGAGCAGC	0.677													44	98	---	---	---	---	0	0
CACNA1E	777	broad.mit.edu	37	1	181745355	181745355	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:181745355G>A	ENST00000526775.1	+	37	5366	c.5201G>A	c.(5200-5202)cGa>cAa	p.R1734Q	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1753					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAATATGACCGAGCAGCATGG	0.612													79	104	---	---	---	---	0	0
CFH	3075	broad.mit.edu	37	1	196711060	196711060	+	Silent	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:196711060G>A	ENST00000367429.4	+	19	3252	c.3012G>A	c.(3010-3012)aaG>aaA	p.K1004K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1004	Sushi 17.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGGAGAGAAGAAGGATGTGT	0.368													5	90	---	---	---	---	0	0
TMEM177	80775	broad.mit.edu	37	2	120438904	120438904	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr2:120438904G>A	ENST00000424086.1	+	2	948	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.V159M|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V159M	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	159						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAGGGAAGTGGTGTACCTGGA	0.662													8	166	---	---	---	---	0	0
CADPS	8618	broad.mit.edu	37	3	62535600	62535600	+	Silent	SNP	C	C	G			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr3:62535600C>G	ENST00000383710.4	-	11	2293	c.1944G>C	c.(1942-1944)ctG>ctC	p.L648L	CADPS_ENST00000283269.9_Silent_p.L648L|CADPS_ENST00000357948.3_Silent_p.L648L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	648					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TAGGGGCATCCAGCTGAGGTA	0.473													40	70	---	---	---	---	0	0
EPHA3	2042	broad.mit.edu	37	3	89528621	89528621	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr3:89528621C>T	ENST00000336596.2	+	17	3146	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	974	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCTCTAGAAACGCAATCAAAG	0.468										TSP Lung(6;0.00050)			7	30	---	---	---	---	0	0
CDH12	1010	broad.mit.edu	37	5	21854872	21854872	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr5:21854872G>C	ENST00000382254.1	-	7	1640	c.554C>G	c.(553-555)aCa>aGa	p.T185R	CDH12_ENST00000504376.2_Missense_Mutation_p.T185R|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	185	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATCTGCATCTGTGGCCTTGAC	0.413										HNSCC(59;0.17)			21	26	---	---	---	---	0	0
PCDHB17	0	broad.mit.edu	37	5	140537272	140537272	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr5:140537272C>T	ENST00000539533.1	+	1	1696	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C																								GTGCTGTACCCGCTGCAGAAC	0.721													4	95	---	---	---	---	0	0
SYNJ2	8871	broad.mit.edu	37	6	158514069	158514069	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr6:158514069T>A	ENST00000355585.4	+	26	3752	c.3677T>A	c.(3676-3678)cTc>cAc	p.L1226H	SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1181H|SYNJ2_ENST00000367112.1_Missense_Mutation_p.L311H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.L1226H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1226	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCGCCCCCACTCCTTCCCCGT	0.592													8	65	---	---	---	---	0	0
ADCY1	107	broad.mit.edu	37	7	45750138	45750138	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr7:45750138G>T	ENST00000297323.7	+	19	2966	c.2944G>T	c.(2944-2946)Ggc>Tgc	p.G982C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	982					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CATCAATGTTGGCCCTGTGGT	0.577													8	115	---	---	---	---	0	0
BAZ1B	9031	broad.mit.edu	37	7	72891995	72891995	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr7:72891995G>T	ENST00000339594.4	-	7	2134	c.1796C>A	c.(1795-1797)cCt>cAt	p.P599H	BAZ1B_ENST00000404251.1_Missense_Mutation_p.P599H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	599					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGCCCTTCAGGGGTATCCAC	0.458													6	161	---	---	---	---	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705461	41705461	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr13:41705461T>A	ENST00000379485.1	-	1	1421	c.1187A>T	c.(1186-1188)tAt>tTt	p.Y396F	KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y330F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	396							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGCAGCTAGATAGATGTCATG	0.517													78	101	---	---	---	---	0	0
LMO7	4008	broad.mit.edu	37	13	76379699	76379699	+	Silent	SNP	G	G	A			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr13:76379699G>A	ENST00000357063.3	+	10	2415	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Silent_p.E385E|LMO7_ENST00000465261.2_Silent_p.E100E|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Silent_p.E100E			Q8WWI1	LMO7_HUMAN	LIM domain 7	385						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATTTGGAAGAGGAAAAAGCAA	0.433													5	197	---	---	---	---	0	0
CHD5	26038	broad.mit.edu	37	1	6228311	6228311	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:6228311A>T	ENST00000262450.3	-	2	205	c.106T>A	c.(106-108)Ttc>Atc	p.F36I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	36					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AAGTCATCGAAGGCTTCAAGA	0.498													6	217	---	---	---	---	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885066	50885066	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:50885066C>T	ENST00000404795.3	-	3	1292	c.900G>A	c.(898-900)gcG>gcA	p.A300A	DMRTA2_ENST00000418121.1_Silent_p.A300A	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	300	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						CTGGCGCCGGCGCGGCCTCAC	0.721													9	111	---	---	---	---	0	0
DAB1	1600	broad.mit.edu	37	1	57480801	57480801	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:57480801C>T	ENST00000371236.2	-	12	1462	c.1199G>A	c.(1198-1200)aGt>aAt	p.S400N	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.S400N|DAB1_ENST00000420954.2_Missense_Mutation_p.S398N|DAB1_ENST00000439789.2_Missense_Mutation_p.S314N|DAB1_ENST00000414851.2_Missense_Mutation_p.S382N|DAB1_ENST00000371231.1_Missense_Mutation_p.S433N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	433					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGTCTGTGGACTTGACCTGGT	0.592													8	89	---	---	---	---	0	0
DEPDC1	55635	broad.mit.edu	37	1	68944925	68944925	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:68944925C>A	ENST00000456315.2	-	10	2128	c.2014G>T	c.(2014-2016)Gtt>Ttt	p.V672F	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.V388F	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	672					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAAAGAAACTAATCTTCCA	0.353													6	47	---	---	---	---	0	0
LYSMD1	388695	broad.mit.edu	37	1	151137675	151137675	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:151137675C>T	ENST00000368908.5	-	1	720	c.60G>A	c.(58-60)cgG>cgA	p.R20R	LYSMD1_ENST00000440902.2_Intron	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	20					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGAACGAGCCCGGCTCCCTT	0.622													32	69	---	---	---	---	0	0
CD5L	922	broad.mit.edu	37	1	157804437	157804437	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:157804437A>T	ENST00000368174.4	-	4	574	c.478T>A	c.(478-480)Tat>Aat	p.Y160N		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	160	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACACGGTATACCACTGGTTC	0.617													21	127	---	---	---	---	0	0
ITLN1	55600	broad.mit.edu	37	1	160850469	160850469	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:160850469C>T	ENST00000326245.3	-	6	709	c.594G>A	c.(592-594)aaG>aaA	p.K198K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	198	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGTCCAACACTTTCCTTCTC	0.458													8	142	---	---	---	---	0	0
SELP	6403	broad.mit.edu	37	1	169582313	169582313	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:169582313A>G	ENST00000263686.6	-	5	666	c.629T>C	c.(628-630)cTc>cCc	p.L210P	SELP_ENST00000367794.2_Missense_Mutation_p.L210P|SELP_ENST00000367793.2_Missense_Mutation_p.L210P|SELP_ENST00000367791.2_Missense_Mutation_p.L210P|SELP_ENST00000367788.2_Missense_Mutation_p.L210P|SELP_ENST00000458599.2_Missense_Mutation_p.L210P|SELP_ENST00000367786.2_Missense_Mutation_p.L210P|SELP_ENST00000367792.2_Missense_Mutation_p.L210P	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	210	Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCAGTTCATGAGCACGTGTTG	0.463													14	57	---	---	---	---	0	0
SEC16B	89866	broad.mit.edu	37	1	177927436	177927436	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:177927436T>A	ENST00000308284.6	-	10	1285	c.1196A>T	c.(1195-1197)tAc>tTc	p.Y399F	SEC16B_ENST00000464631.2_Missense_Mutation_p.Y400F|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	399					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTGCCGCTTGTACTTCTCCAG	0.572													9	33	---	---	---	---	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879155	209879155	+	Splice_Site	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:209879155G>C	ENST00000367028.2	+	3	257		c.e3-1		RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site|HSD11B1_ENST00000367027.3_Splice_Site	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1						glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GGGTTCCCCAGAGATGCTCCA	0.488													6	81	---	---	---	---	0	0
OR2T4	127074	broad.mit.edu	37	1	248525215	248525215	+	Silent	SNP	C	C	T	rs148489116		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:248525215C>T	ENST00000366475.1	+	1	333	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTGTGCCCAAGATGCTCC	0.488													18	262	---	---	---	---	0	0
COLEC11	78989	broad.mit.edu	37	2	3691606	3691606	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:3691606C>T	ENST00000403096.3	+	6	1127	c.636C>T	c.(634-636)gaC>gaT	p.D212D	COLEC11_ENST00000404205.1_Silent_p.D164D|COLEC11_ENST00000236693.7_Silent_p.D235D|COLEC11_ENST00000418971.2_Silent_p.D252D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402922.1_Silent_p.D188D|COLEC11_ENST00000402794.1_Silent_p.D188D|COLEC11_ENST00000349077.4_Silent_p.D238D|COLEC11_ENST00000382062.2_Silent_p.D214D	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	238	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		ATGCCTACGACGAGGAGGACT	0.592													7	107	---	---	---	---	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696504	17696504	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:17696504T>C	ENST00000399080.2	-	1	3202	c.3179A>G	c.(3178-3180)gAa>gGa	p.E1060G		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1060										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTAGGAACTTCCTGTTCTCC	0.348													3	16	---	---	---	---	0	0
APOB	338	broad.mit.edu	37	2	21258471	21258471	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:21258471A>G	ENST00000233242.1	-	7	930	c.803T>C	c.(802-804)cTg>cCg	p.L268P	APOB_ENST00000399256.4_Missense_Mutation_p.L268P	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	268	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAGAAAGGCAGGAAGAGGTG	0.493													4	60	---	---	---	---	0	0
SRBD1	55133	broad.mit.edu	37	2	45773897	45773897	+	Silent	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:45773897A>G	ENST00000263736.4	-	14	1910	c.1848T>C	c.(1846-1848)taT>taC	p.Y616Y	SRBD1_ENST00000535761.1_Silent_p.Y135Y	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	616					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTGGTGCAAAATAATTCTTCA	0.403													3	65	---	---	---	---	0	0
NAGK	55577	broad.mit.edu	37	2	71300700	71300700	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:71300700A>T	ENST00000418807.3	+	5	566	c.402A>T	c.(400-402)aaA>aaT	p.K134N	NAGK_ENST00000455662.2_Missense_Mutation_p.K231N|NAGK_ENST00000244204.6_Missense_Mutation_p.K185N|NAGK_ENST00000443938.2_Missense_Mutation_p.K185N|NAGK_ENST00000443872.2_Missense_Mutation_p.K37N			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	185					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GCTACGTCAAACAGGCCATGT	0.522													27	219	---	---	---	---	0	0
WDR33	55339	broad.mit.edu	37	2	128477088	128477088	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:128477088C>A	ENST00000322313.4	-	16	2669	c.2511G>T	c.(2509-2511)caG>caT	p.Q837H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	837					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTGGAGGCCCCTGCATGCCTC	0.632													22	37	---	---	---	---	0	0
SCN2A	6326	broad.mit.edu	37	2	166245953	166245953	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:166245953G>T	ENST00000375437.2	+	27	5927	c.5637G>T	c.(5635-5637)atG>atT	p.M1879I	SCN2A_ENST00000283256.6_Missense_Mutation_p.M1879I|SCN2A_ENST00000375427.2_Missense_Mutation_p.M1879I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1879I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1879					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAATACAGATGGAAGAGCGAT	0.463													4	81	---	---	---	---	0	0
SCN1A	6323	broad.mit.edu	37	2	166848422	166848422	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:166848422T>A	ENST00000423058.2	-	26	5380	c.5363A>T	c.(5362-5364)aAc>aTc	p.N1788I	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1777I|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1760I|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1788I|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1788						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACACTGAAGTTCTCCAGGAT	0.448													6	161	---	---	---	---	0	0
SGOL2	151246	broad.mit.edu	37	2	201438669	201438669	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:201438669A>C	ENST00000357799.4	+	7	3698	c.3600A>C	c.(3598-3600)aaA>aaC	p.K1200N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1200					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.K1200N(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGAAATTTAAAGTCAACCGGA	0.318													4	58	---	---	---	---	0	0
SPEG	10290	broad.mit.edu	37	2	220350132	220350132	+	Silent	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:220350132A>G	ENST00000312358.7	+	31	7806	c.7674A>G	c.(7672-7674)ttA>ttG	p.L2558L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2558					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACAAGGGGTTATCGCCACCAA	0.612													4	107	---	---	---	---	0	0
STK11IP	114790	broad.mit.edu	37	2	220473351	220473351	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:220473351G>T	ENST00000456909.1	+	15	1740	c.1650G>T	c.(1648-1650)gaG>gaT	p.E550D	STK11IP_ENST00000295641.10_Missense_Mutation_p.E561D			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	561	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGCCTGAGGGCGTACGGG	0.602													3	54	---	---	---	---	0	0
HDLBP	3069	broad.mit.edu	37	2	242189366	242189366	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:242189366A>C	ENST00000391975.1	-	12	1629	c.1402T>G	c.(1402-1404)Tcc>Gcc	p.S468A	HDLBP_ENST00000427183.2_Missense_Mutation_p.S435A|HDLBP_ENST00000391976.2_Missense_Mutation_p.S468A|HDLBP_ENST00000310931.4_Missense_Mutation_p.S468A|HDLBP_ENST00000476807.1_5'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	468	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATGCGCACGGACACCTTGTAC	0.517													7	115	---	---	---	---	0	0
THAP4	51078	broad.mit.edu	37	2	242573471	242573471	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:242573471C>T	ENST00000407315.1	-	2	532	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	34							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TTGGATTAGACGTTTTGAGTC	0.368													7	93	---	---	---	---	0	0
CPNE9	151835	broad.mit.edu	37	3	9771372	9771372	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:9771372C>T	ENST00000383832.3	+	21	1848	c.1658C>T	c.(1657-1659)cCc>cTc	p.P553L		NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	553										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCAGAGCAGCCCTGAGGATTC	0.612													4	42	---	---	---	---	0	0
CADPS	8618	broad.mit.edu	37	3	62570916	62570916	+	Silent	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:62570916A>G	ENST00000383710.4	-	8	1870	c.1521T>C	c.(1519-1521)gaT>gaC	p.D507D	CADPS_ENST00000357948.3_Silent_p.D507D|CADPS_ENST00000283269.9_Silent_p.D507D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	507					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGATTTTGAGATCTTGGTCGG	0.468													6	119	---	---	---	---	0	0
EPHA3	2042	broad.mit.edu	37	3	89445000	89445000	+	Silent	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:89445000C>A	ENST00000336596.2	+	6	1545	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	EPHA3_ENST00000452448.2_Silent_p.V440V|EPHA3_ENST00000494014.1_Silent_p.V440V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	440	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CATCACCTGTCCTGACGATTA	0.463										TSP Lung(6;0.00050)			20	112	---	---	---	---	0	0
CD200R1	131450	broad.mit.edu	37	3	112648324	112648324	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:112648324G>T	ENST00000471858.1	-	3	396	c.164C>A	c.(163-165)aCa>aAa	p.T55K	CD200R1_ENST00000490004.1_Missense_Mutation_p.T55K|CD200R1_ENST00000295863.4_Missense_Mutation_p.T33K|CD200R1_ENST00000308611.3_Missense_Mutation_p.T78K|CD200R1_ENST00000440122.2_Missense_Mutation_p.T78K	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	55	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CACAGCATTTGTAGCCATCTT	0.383													4	93	---	---	---	---	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748316	126748316	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:126748316A>G	ENST00000251772.4	+	26	4807	c.4738A>G	c.(4738-4740)Aag>Gag	p.K1580E	PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1603E			Q9UIW2	PLXA1_HUMAN	plexin A1	1603					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGGTGCCCAAGCAGACGTC	0.667													11	178	---	---	---	---	0	0
ATP11B	23200	broad.mit.edu	37	3	182586927	182586927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182586927C>T	ENST00000323116.5	+	16	2010	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	584					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGTAATTGTTCAGGCACCTTC	0.299													3	29	---	---	---	---	0	0
ATP11B	23200	broad.mit.edu	37	3	182587059	182587059	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182587059C>T	ENST00000323116.5	+	17	2066	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	602					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CATCAATTCTCCCTAAATGTA	0.284													4	20	---	---	---	---	0	0
ATP11B	23200	broad.mit.edu	37	3	182587060	182587060	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182587060C>T	ENST00000323116.5	+	17	2067	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	603					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCAATTCTCCCTAAATGTAT	0.284													4	21	---	---	---	---	0	0
ABCC5	10057	broad.mit.edu	37	3	183669276	183669276	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:183669276G>A	ENST00000334444.6	-	20	3137	c.2897C>T	c.(2896-2898)aCc>aTc	p.T966I	ABCC5_ENST00000265586.6_Missense_Mutation_p.T966I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	966	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCTGTGGGGGTCGTGTCAAA	0.512													5	93	---	---	---	---	0	0
UGT2B11	10720	broad.mit.edu	37	4	70074167	70074167	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr4:70074167T>A	ENST00000446444.1	-	3	912	c.904A>T	c.(904-906)Aat>Tat	p.N302Y	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	302					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAACACCATTTTCTCCAGAG	0.423													12	177	---	---	---	---	0	0
ZFP42	132625	broad.mit.edu	37	4	188924707	188924707	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr4:188924707T>G	ENST00000326866.4	+	4	1154	c.746T>G	c.(745-747)tTt>tGt	p.F249C	ZFP42_ENST00000509524.1_Missense_Mutation_p.F249C	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	249					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CGGTGCACTTTTGAAGGGTGC	0.517													13	59	---	---	---	---	0	0
GPR98	84059	broad.mit.edu	37	5	89933655	89933655	+	Silent	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:89933655T>C	ENST00000405460.2	+	11	2226	c.2130T>C	c.(2128-2130)ttT>ttC	p.F710F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	710	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGGCCCCTTTAATGGCTCTG	0.423													4	41	---	---	---	---	0	0
IL9	3578	broad.mit.edu	37	5	135228145	135228145	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:135228145A>G	ENST00000274520.1	-	5	380	c.370T>C	c.(370-372)Ttt>Ctt	p.F124L		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	124					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCTTCAGAAATGTCAGCGCG	0.378													7	47	---	---	---	---	0	0
CD83	9308	broad.mit.edu	37	6	14131886	14131886	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:14131886A>C	ENST00000379153.3	+	3	460	c.289A>C	c.(289-291)Act>Cct	p.T97P		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	97	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GATCCGAAACACTACCAGCTG	0.542													7	122	---	---	---	---	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184078	26184078	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:26184078G>A	ENST00000356530.3	+	1	121	c.55G>A	c.(55-57)Gtg>Atg	p.V19M		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	19					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						CAAGAAGGCCGTGACCAAGGC	0.547													4	150	---	---	---	---	0	0
BACH2	60468	broad.mit.edu	37	6	90661075	90661075	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:90661075G>A	ENST00000257749.4	-	7	1457	c.750C>T	c.(748-750)acC>acT	p.T250T	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.T250T|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.T250T	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	250						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAAAACCTGAGGTACTGTGTG	0.493													4	119	---	---	---	---	0	0
SOBP	55084	broad.mit.edu	37	6	107827592	107827592	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:107827592G>A	ENST00000317357.5	+	3	1041	c.382G>A	c.(382-384)Gta>Ata	p.V128I		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	128							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCCCATTATTGTACCTTTAAT	0.423													17	162	---	---	---	---	0	0
ARMC2	84071	broad.mit.edu	37	6	109274248	109274248	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:109274248C>T	ENST00000392644.4	+	13	1777	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	ARMC2_ENST00000368972.3_Missense_Mutation_p.R372C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	537							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TTTAGTCGTCCGTGTTGTTTT	0.398													4	13	---	---	---	---	0	0
ROS1	6098	broad.mit.edu	37	6	117662661	117662661	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:117662661G>A	ENST00000368508.3	-	29	5002	c.4804C>T	c.(4804-4806)Cta>Tta	p.L1602L	ROS1_ENST00000368507.3_Silent_p.L1596L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1602	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGAATTAGGGCCAGGTGT	0.428			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								5	91	---	---	---	---	0	0
GPR126	0	broad.mit.edu	37	6	142691627	142691627	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:142691627G>T	ENST00000230173.6	+	4	1242	c.766G>T	c.(766-768)Gtt>Ttt	p.V256F	GPR126_ENST00000367608.2_Missense_Mutation_p.V256F|GPR126_ENST00000367609.3_Missense_Mutation_p.V256F|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.V256F	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	256	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V256F(1)|p.V255F(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GCTCTGCCTTGTTTGGAATAA	0.333													5	59	---	---	---	---	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151243383	151243383	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:151243383C>T	ENST00000367321.3	+	10	1301	c.1027C>T	c.(1027-1029)Cac>Tac	p.H343Y		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	343	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGAACAGCAGCACAGGCGGTG	0.493													25	61	---	---	---	---	0	0
SEMA3E	9723	broad.mit.edu	37	7	83037758	83037758	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:83037758T>C	ENST00000307792.3	-	6	1063	c.596A>G	c.(595-597)gAc>gGc	p.D199G	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D139G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	199	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATCGCAGCGTCTCTGCTCCA	0.458													12	21	---	---	---	---	0	0
OCM2	4951	broad.mit.edu	37	7	97614280	97614280	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:97614280A>G	ENST00000257627.4	-	4	411	c.320T>C	c.(319-321)gTg>gCg	p.V107A		NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	107	EF-hand 2.						calcium ion binding			lung(4)	4						TTAAGAATGCACCATTTCCTG	0.498													15	20	---	---	---	---	0	0
LRRN3	54674	broad.mit.edu	37	7	110763905	110763905	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:110763905C>G	ENST00000451085.1	+	4	2123	c.1077C>G	c.(1075-1077)aaC>aaG	p.N359K	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N359K|LRRN3_ENST00000308478.5_Missense_Mutation_p.N359K|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	359						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CTCTGCCAAACCTCAAGGAAA	0.468													4	68	---	---	---	---	0	0
SSMEM1	136263	broad.mit.edu	37	7	129853359	129853359	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:129853359A>T	ENST00000297819.3	+	2	274	c.223A>T	c.(223-225)Act>Tct	p.T75S		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		TGGGACAAGTACTTCAGTAAG	0.408													5	66	---	---	---	---	0	0
TRBV7-7	0	broad.mit.edu	37	7	142120060	142120060	+	RNA	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:142120060T>A	ENST00000390377.1	-	0	106																											AGTTACATCCTGTCCCCTCTT	0.473													5	59	---	---	---	---	0	0
ANK1	286	broad.mit.edu	37	8	41529908	41529908	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:41529908G>A	ENST00000396942.1	-	38	5143	c.5060C>T	c.(5059-5061)cCc>cTc	p.P1687L	ANK1_ENST00000265709.8_Missense_Mutation_p.P1728L|ANK1_ENST00000352337.4_Missense_Mutation_p.P1687L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1687L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1687L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1687L|ANK1_ENST00000347528.4_Missense_Mutation_p.P1687L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1687	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTCACGGTGGGGGAATGTGT	0.557													8	96	---	---	---	---	0	0
PLAT	5327	broad.mit.edu	37	8	42038168	42038168	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:42038168A>T	ENST00000220809.4	-	10	1181	c.925T>A	c.(925-927)Ttt>Att	p.F309I	PLAT_ENST00000429710.2_Missense_Mutation_p.F183I|PLAT_ENST00000429089.2_Missense_Mutation_p.F309I|PLAT_ENST00000519510.1_Missense_Mutation_p.F246I|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Missense_Mutation_p.F220I|PLAT_ENST00000352041.3_Missense_Mutation_p.F263I	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	309					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTGATGCGAAACTGAGGCTGG	0.632													6	58	---	---	---	---	0	0
CHD7	55636	broad.mit.edu	37	8	61654328	61654328	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:61654328G>C	ENST00000423902.2	+	2	816	c.337G>C	c.(337-339)Gtg>Ctg	p.V113L	CHD7_ENST00000525508.1_Missense_Mutation_p.V113L|CHD7_ENST00000524602.1_Missense_Mutation_p.V113L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	113					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CGTTCCTCAGGTGCCCCATGG	0.592													7	34	---	---	---	---	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999165	92999165	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:92999165G>C	ENST00000523629.1	-	8	1481	c.1027C>G	c.(1027-1029)Cac>Gac	p.H343D	RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H354D|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H343D|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H306D|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H306D	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	343	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H306N(1)|p.H354N(1)|p.H343N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTTAGTCTGTGATCAATCATT	0.388													8	171	---	---	---	---	0	0
TMEM71	137835	broad.mit.edu	37	8	133740185	133740185	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:133740185T>C	ENST00000356838.3	-	6	620	c.478A>G	c.(478-480)Aag>Gag	p.K160E	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.K179E	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	179						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCATTCATCTTCCCTGACTCC	0.488													8	109	---	---	---	---	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134488181	134488181	+	Silent	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:134488181G>C	ENST00000319914.5	-	4	1114	c.87C>G	c.(85-87)tcC>tcG	p.S29S	ST3GAL1_ENST00000399640.2_Silent_p.S29S|ST3GAL1_ENST00000522652.1_Silent_p.S29S|ST3GAL1_ENST00000521180.1_Silent_p.S29S			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	29					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCATGGTGTGGGAGTAGTTCA	0.572													4	125	---	---	---	---	0	0
ARC	23237	broad.mit.edu	37	8	143694473	143694473	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:143694473G>A	ENST00000356613.2	-	1	2360	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F		NM_015193.4	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	387					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTGGCCACGGACTCGCTGTT	0.701													6	24	---	---	---	---	0	0
GLDC	2731	broad.mit.edu	37	9	6554725	6554725	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:6554725G>T	ENST00000321612.6	-	19	2409	c.2259C>A	c.(2257-2259)caC>caA	p.H753Q		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	753					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGAAGGTCTTGTGAAGATTTA	0.542													3	23	---	---	---	---	0	0
TRPM6	140803	broad.mit.edu	37	9	77390917	77390917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:77390917G>T	ENST00000451710.3	-	24	3522	c.3285C>A	c.(3283-3285)taC>taA	p.Y1095*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1095					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCTTCTCGTGGTAGGTCATGA	0.522													6	113	---	---	---	---	0	0
OR13C5	138799	broad.mit.edu	37	9	107361057	107361057	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:107361057A>T	ENST00000374779.2	-	1	731	c.638T>A	c.(637-639)tTa>tAa	p.L213*		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GACAATAATTAATAACAAAGG	0.423													8	176	---	---	---	---	0	0
CELF2	10659	broad.mit.edu	37	10	11317020	11317020	+	Splice_Site	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:11317020C>A	ENST00000379261.4	+	8	849	c.757C>A	c.(757-759)Ctc>Atc	p.L253I	CELF2_ENST00000450189.1_Splice_Site_p.L260I|CELF2_ENST00000417956.2_Splice_Site_p.L229I|CELF2_ENST00000609692.1_Splice_Site_p.L229I|CELF2_ENST00000315874.4_Splice_Site_p.L229I|CELF2_ENST00000537122.1_Splice_Site_p.L142I|CELF2_ENST00000354440.2_Splice_Site_p.L229I|CELF2_ENST00000399850.3_Splice_Site_p.L229I|CELF2_ENST00000427450.1_Splice_Site_p.L229I|CELF2_ENST00000354897.3_Splice_Site_p.L229I|CELF2_ENST00000542579.1_Splice_Site_p.L260I|CELF2_ENST00000608830.1_Splice_Site_p.L229I|CELF2_ENST00000416382.2_Splice_Site_p.L253I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	253	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TCATCCGCAGCTCCTGCAGCA	0.527													26	129	---	---	---	---	0	0
SGMS1	259230	broad.mit.edu	37	10	52103736	52103736	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:52103736G>A	ENST00000361781.2	-	7	1098	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	SGMS1_ENST00000361543.2_Missense_Mutation_p.P47S|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	53	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.P47T(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CACAAGGGGGGTTTTTTGAAA	0.512													7	72	---	---	---	---	0	0
TTC18	118491	broad.mit.edu	37	10	75029381	75029381	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:75029381G>A	ENST00000401621.2	-	26	3348	c.3228C>T	c.(3226-3228)gtC>gtT	p.V1076V	TTC18_ENST00000340329.3_Silent_p.V316V|TTC18_ENST00000394865.1_Silent_p.V1046V|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000310715.3_Silent_p.V1076V|TTC18_ENST00000355577.3_Silent_p.V545V			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	1076							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTTTCAGGCAGACCAGAGCCA	0.483													7	66	---	---	---	---	0	0
C10orf76	79591	broad.mit.edu	37	10	103649193	103649193	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:103649193G>A	ENST00000370033.4	-	24	1955	c.1836C>T	c.(1834-1836)caC>caT	p.H612H	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	612						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GTTGGGATATGTGATTCACAG	0.473													5	325	---	---	---	---	0	0
SOX6	55553	broad.mit.edu	37	11	16071443	16071443	+	Silent	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:16071443G>T	ENST00000352083.6	-	11	1370	c.1293C>A	c.(1291-1293)ccC>ccA	p.P431P	SOX6_ENST00000528252.1_Silent_p.P390P|SOX6_ENST00000527619.1_Silent_p.P393P|SOX6_ENST00000396356.3_Silent_p.P431P|SOX6_ENST00000528429.1_Silent_p.P431P|SOX6_ENST00000316399.6_Silent_p.P431P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	431					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCTGTCTTGGGTCGGGATG	0.463													13	255	---	---	---	---	0	0
NAV2	89797	broad.mit.edu	37	11	20099637	20099637	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:20099637G>T	ENST00000396085.1	+	24	5527	c.5166G>T	c.(5164-5166)gaG>gaT	p.E1722D	NAV2_ENST00000540292.1_Missense_Mutation_p.E1709D|NAV2_ENST00000396087.3_Missense_Mutation_p.E1778D|NAV2_ENST00000349880.4_Missense_Mutation_p.E1722D|NAV2_ENST00000533917.1_Missense_Mutation_p.E786D|NAV2_ENST00000527559.2_Missense_Mutation_p.E1707D|NAV2_ENST00000360655.4_Missense_Mutation_p.E1658D|NAV2_ENST00000311043.8_Missense_Mutation_p.E786D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1778						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACACACCTGAGCTCAACTGCA	0.473													3	35	---	---	---	---	0	0
HIPK3	10114	broad.mit.edu	37	11	33370281	33370281	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:33370281C>A	ENST00000303296.4	+	13	2888	c.2583C>A	c.(2581-2583)gaC>gaA	p.D861E	HIPK3_ENST00000456517.1_Missense_Mutation_p.D840E|HIPK3_ENST00000379016.3_Missense_Mutation_p.D840E|HIPK3_ENST00000525975.1_Missense_Mutation_p.D840E	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	861	Interaction with AR (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTATTGCCGACTCCCCGAGTC	0.473													7	98	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62290041	62290041	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:62290041G>A	ENST00000378024.4	-	5	12122	c.11848C>T	c.(11848-11850)Cca>Tca	p.P3950S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3950					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACTTCTGGACCTTCTCCT	0.507													21	390	---	---	---	---	0	0
KDM2A	22992	broad.mit.edu	37	11	66999361	66999361	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:66999361C>A	ENST00000529006.2	+	12	1855	c.1409C>A	c.(1408-1410)tCt>tAt	p.S470Y	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.S470Y	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AAGTTGGAGTCTCTGCCACTG	0.488													28	182	---	---	---	---	0	0
TENM4	26011	broad.mit.edu	37	11	78443391	78443391	+	Silent	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:78443391T>C	ENST00000278550.7	-	21	3570	c.3108A>G	c.(3106-3108)gcA>gcG	p.A1036A		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGCCTTTCTCTGCACAGGAGC	0.527													22	53	---	---	---	---	0	0
TECTA	7007	broad.mit.edu	37	11	120996041	120996041	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:120996041A>T	ENST00000392793.1	+	8	1505	c.1234A>T	c.(1234-1236)Acc>Tcc	p.T412S	TECTA_ENST00000264037.2_Missense_Mutation_p.T412S			O75443	TECTA_HUMAN	tectorin alpha	412	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTGCCTGTCACCTTAGACTT	0.498													9	221	---	---	---	---	0	0
KMT2D	8085	broad.mit.edu	37	12	49433964	49433964	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:49433964G>A	ENST00000301067.7	-	31	7588	c.7589C>T	c.(7588-7590)aCc>aTc	p.T2530I		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGAGAGGGGGTGCCCACAAA	0.657													4	37	---	---	---	---	0	0
KRT75	9119	broad.mit.edu	37	12	52820636	52820636	+	Splice_Site	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:52820636C>A	ENST00000252245.5	-	8	1603		c.e8-1		RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75							keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCCACTCAACCTGATTGGGAA	0.463													7	52	---	---	---	---	0	0
OTOGL	283310	broad.mit.edu	37	12	80749588	80749588	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:80749588T>C	ENST00000458043.2	+	46	5645	c.5639T>C	c.(5638-5640)cTa>cCa	p.L1880P	OTOGL_ENST00000547103.1_Missense_Mutation_p.L1868P	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAATGCACTCTATACAAATGT	0.448													10	85	---	---	---	---	0	0
AMDHD1	144193	broad.mit.edu	37	12	96354372	96354372	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:96354372G>T	ENST00000266736.2	+	5	890	c.784G>T	c.(784-786)Gat>Tat	p.D262Y		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	262					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CTTCCATGGGGATGAACTCCA	0.408													14	87	---	---	---	---	0	0
GNPTAB	79158	broad.mit.edu	37	12	102151047	102151047	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:102151047A>T	ENST00000299314.7	-	18	3639	c.3377T>A	c.(3376-3378)aTt>aAt	p.I1126N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1126					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GTTGGTACGAATCATTTTAAA	0.274													4	37	---	---	---	---	0	0
STAB2	55576	broad.mit.edu	37	12	104046416	104046416	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:104046416A>G	ENST00000388887.2	+	12	1544	c.1340A>G	c.(1339-1341)tAt>tGt	p.Y447C		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	447	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACATCGAATATATGAATAAC	0.403													9	29	---	---	---	---	0	0
WSCD2	9671	broad.mit.edu	37	12	108603945	108603945	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:108603945G>T	ENST00000332082.4	+	5	1363	c.545G>T	c.(544-546)gGc>gTc	p.G182V	WSCD2_ENST00000261400.3_Missense_Mutation_p.G182V|WSCD2_ENST00000547525.1_Missense_Mutation_p.G182V|WSCD2_ENST00000549903.1_Missense_Mutation_p.G182V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	182	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGCTACTGCGGCCACAAGATC	0.672													4	53	---	---	---	---	0	0
WSCD2	9671	broad.mit.edu	37	12	108603946	108603946	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:108603946C>T	ENST00000332082.4	+	5	1364	c.546C>T	c.(544-546)ggC>ggT	p.G182G	WSCD2_ENST00000261400.3_Silent_p.G182G|WSCD2_ENST00000547525.1_Silent_p.G182G|WSCD2_ENST00000549903.1_Silent_p.G182G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	182	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTACTGCGGCCACAAGATCC	0.667													4	53	---	---	---	---	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328640	88328640	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr13:88328640G>C	ENST00000325089.6	+	2	1216	c.997G>C	c.(997-999)Ggg>Cgg	p.G333R	SLITRK5_ENST00000400028.3_Missense_Mutation_p.G92R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	333						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCCCTAAGGGGACTCGCCA	0.582													4	161	---	---	---	---	0	0
PYGL	5836	broad.mit.edu	37	14	51401885	51401885	+	Missense_Mutation	SNP	C	C	T	rs144099482	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr14:51401885C>T	ENST00000216392.7	-	3	696	c.364G>A	c.(364-366)Gag>Aag	p.E122K	PYGL_ENST00000532462.1_Missense_Mutation_p.E122K|PYGL_ENST00000544180.2_Missense_Mutation_p.E88K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	122					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TCTTCTAACTCTTCTATATCC	0.418													4	36	---	---	---	---	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68272329	68272329	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr14:68272329C>T	ENST00000347230.4	-	7	1162	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A342T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	342					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AATGTTAGTGCTGTTACCTGT	0.433													10	59	---	---	---	---	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40313180	40313180	+	Silent	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:40313180A>G	ENST00000263791.5	+	31	4297	c.4254A>G	c.(4252-4254)aaA>aaG	p.K1418K	EIF2AK4_ENST00000382727.2_Silent_p.K1390K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1418	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TAACCCAGAAACTCTGGACAG	0.478													5	68	---	---	---	---	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063581	48063581	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:48063581C>G	ENST00000316364.5	+	19	3260	c.2821C>G	c.(2821-2823)Cca>Gca	p.P941A	SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P898A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P922A|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P866A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P879A|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P885A|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P941A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	941					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAGAAATAGCCCAACCAAGCG	0.517													5	161	---	---	---	---	0	0
VPS13C	54832	broad.mit.edu	37	15	62212501	62212501	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:62212501A>T	ENST00000261517.5	-	57	7315	c.7242T>A	c.(7240-7242)ttT>ttA	p.F2414L	VPS13C_ENST00000249837.3_Missense_Mutation_p.F2371L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2414L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2371L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2414					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGAGTAGTCAAAAGTAGAAG	0.373													4	36	---	---	---	---	0	0
NEO1	4756	broad.mit.edu	37	15	73580727	73580727	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:73580727G>C	ENST00000339362.5	+	25	3931	c.3484G>C	c.(3484-3486)Gat>Cat	p.D1162H	NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H|NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H|NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H			Q92859	NEO1_HUMAN	neogenin 1	1162					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAAACCTCCAGATCTCTGGAT	0.463													7	51	---	---	---	---	0	0
OTOA	146183	broad.mit.edu	37	16	21690532	21690532	+	Splice_Site	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:21690532G>T	ENST00000388958.3	+	4	180	c.179G>T	c.(178-180)aGc>aTc	p.S60I	OTOA_ENST00000286149.4_Splice_Site_p.S60I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	60					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGTTTCAAAGGTAAAATGCC	0.343													6	55	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7578509	7578509	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:7578509A>C	ENST00000420246.2	-	5	553	c.421T>G	c.(421-423)Tgc>Ggc	p.C141G	TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000269305.4_Missense_Mutation_p.C141G|TP53_ENST00000445888.2_Missense_Mutation_p.C141G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCACAGGGCAGGTCTTGGCC	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	31	---	---	---	---	0	0
MYH13	8735	broad.mit.edu	37	17	10248872	10248872	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:10248872A>T	ENST00000418404.3	-	13	1488	c.1325T>A	c.(1324-1326)gTc>gAc	p.V442D	MYH13_ENST00000252172.4_Missense_Mutation_p.V442D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	442	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GATGCGGGTGACCATCCACAG	0.522													10	135	---	---	---	---	0	0
TOP3A	7156	broad.mit.edu	37	17	18205596	18205596	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:18205596T>C	ENST00000321105.5	-	7	1010	c.796A>G	c.(796-798)Atc>Gtc	p.I266V	TOP3A_ENST00000542570.1_Missense_Mutation_p.I171V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	266					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGTGGAAGATTTCTGGTACA	0.527													10	41	---	---	---	---	0	0
LIG3	3980	broad.mit.edu	37	17	33324773	33324773	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:33324773C>T	ENST00000378526.4	+	12	1973	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W	LIG3_ENST00000262327.5_Missense_Mutation_p.R614W	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	614					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GTGTGAGCGGCGGAAGTTTCT	0.488								Other BER factors					6	62	---	---	---	---	0	0
GSDMB	55876	broad.mit.edu	37	17	38062397	38062397	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:38062397G>A	ENST00000394175.2	-	5	1012	c.789C>T	c.(787-789)ggC>ggT	p.G263G	GSDMB_ENST00000520542.1_Silent_p.G276G|GSDMB_ENST00000394179.1_Silent_p.G280G|GSDMB_ENST00000360317.3_Silent_p.G285G|GSDMB_ENST00000418519.1_Silent_p.G285G|GSDMB_ENST00000309481.7_Silent_p.G272G	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	280						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TATCCTCCTTGCCGAGGCACT	0.517													10	73	---	---	---	---	0	0
KRT23	25984	broad.mit.edu	37	17	39084808	39084808	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:39084808C>T	ENST00000209718.3	-	5	1112	c.688G>A	c.(688-690)Gat>Aat	p.D230N	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.D93N	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	230	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGACCTGTATCCACCTTCACA	0.408													19	157	---	---	---	---	0	0
MKS1	54903	broad.mit.edu	37	17	56285908	56285908	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:56285908A>C	ENST00000393119.2	-	12	1135	c.1061T>G	c.(1060-1062)gTa>gGa	p.V354G	MKS1_ENST00000337050.7_Missense_Mutation_p.V354G|MKS1_ENST00000313863.6_Missense_Mutation_p.V354G|MKS1_ENST00000537529.2_Missense_Mutation_p.V344G|MKS1_ENST00000546108.1_Missense_Mutation_p.V151G	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	354	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGTCTGTGTTACTCCTGAGAG	0.498													19	35	---	---	---	---	0	0
PIK3C3	5289	broad.mit.edu	37	18	39607410	39607410	+	Silent	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr18:39607410T>C	ENST00000262039.4	+	14	1574	c.1488T>C	c.(1486-1488)taT>taC	p.Y496Y	PIK3C3_ENST00000398870.3_Silent_p.Y433Y|PIK3C3_ENST00000593098.1_5'UTR	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	496					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTTTAAGGTATGTGATAGTGG	0.333										TSP Lung(28;0.18)			3	38	---	---	---	---	0	0
EEF2	1938	broad.mit.edu	37	19	3984203	3984203	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:3984203C>G	ENST00000309311.6	-	2	237	c.149G>C	c.(148-150)cGg>cCg	p.R50P	EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	50						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCCGGCCCGGGCCGAGGC	0.622													32	121	---	---	---	---	0	0
CREB3L3	84699	broad.mit.edu	37	19	4170156	4170156	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:4170156C>G	ENST00000602147.1	+	6	814	c.734C>G	c.(733-735)tCa>tGa	p.S245*	CREB3L3_ENST00000602257.1_Missense_Mutation_p.Q279E|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000078445.2_Missense_Mutation_p.Q281E|CREB3L3_ENST00000595923.1_Missense_Mutation_p.Q280E			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	0					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCACTGCTCAGAATCAGGA	0.562													6	107	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9086744	9086744	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:9086744T>A	ENST00000397910.4	-	1	5274	c.5071A>T	c.(5071-5073)Aga>Tga	p.R1691*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1691	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGATGCTTCTTCCTGGAGCA	0.478													5	119	---	---	---	---	0	0
LDLR	3949	broad.mit.edu	37	19	11233932	11233932	+	Silent	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:11233932A>T	ENST00000558518.1	+	15	2410	c.2223A>T	c.(2221-2223)acA>acT	p.T741T	LDLR_ENST00000545707.1_Silent_p.T563T|LDLR_ENST00000558013.1_Silent_p.T741T|LDLR_ENST00000535915.1_Silent_p.T700T|LDLR_ENST00000557933.1_Silent_p.T741T|LDLR_ENST00000455727.2_Silent_p.T573T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	741	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CACAGCACACAACCACCCGAC	0.582													9	83	---	---	---	---	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394177	17394177	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:17394177A>G	ENST00000394458.3	+	5	880	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	ANKLE1_ENST00000594072.1_Missense_Mutation_p.K191E|ANKLE1_ENST00000433424.2_Missense_Mutation_p.K256E|ANKLE1_ENST00000598347.1_Missense_Mutation_p.K202E|ANKLE1_ENST00000404085.1_Missense_Mutation_p.K224E	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	202						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						AACTGTGGACAAACATGGGAG	0.602													5	125	---	---	---	---	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461937	50461937	+	Silent	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:50461937C>A	ENST00000447370.2	-	7	1416	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L	SIGLEC11_ENST00000426971.2_Silent_p.L442L	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	442	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GCTGGGAGCCCAGAGGGTGCT	0.667													12	142	---	---	---	---	0	0
LILRB2	0	broad.mit.edu	37	19	54778668	54778668	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:54778668C>A	ENST00000391748.1	-	14	1790	c.1663G>T	c.(1663-1665)Gcc>Tcc	p.A555S	LILRB2_ENST00000434421.1_Missense_Mutation_p.A440S|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391749.4_Missense_Mutation_p.A556S|LILRB2_ENST00000314446.5_Missense_Mutation_p.A555S	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	556					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTGGGGGGCTTCAGATGCA	0.637													4	81	---	---	---	---	0	0
TMEM86B	255043	broad.mit.edu	37	19	55739730	55739730	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:55739730C>A	ENST00000327042.4	-	2	649	c.127G>T	c.(127-129)Gac>Tac	p.D43Y	AC010327.2_ENST00000598855.1_3'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	43					ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GACAGCTGGTCCTCGGGAATC	0.637													4	42	---	---	---	---	0	0
DEFB125	245938	broad.mit.edu	37	20	76981	76981	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:76981A>T	ENST00000382410.2	+	2	394	c.394A>T	c.(394-396)Act>Tct	p.T132S	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	132					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TACTCCCGAGACTACTATGCC	0.433													8	218	---	---	---	---	0	0
MYLK2	85366	broad.mit.edu	37	20	30408169	30408169	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30408169C>T	ENST00000375994.2	+	2	566	c.293C>T	c.(292-294)cCc>cTc	p.P98L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P98L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	98					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGCCCTGCCCCAGCAGACT	0.687													7	40	---	---	---	---	0	0
MYLK2	85366	broad.mit.edu	37	20	30409476	30409476	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30409476G>T	ENST00000375994.2	+	3	981	c.708G>T	c.(706-708)gaG>gaT	p.E236D	MYLK2_ENST00000375985.4_Missense_Mutation_p.E236D			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	236					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTCCCTCAGAGAAATCCGAGG	0.632													22	118	---	---	---	---	0	0
KIF3B	9371	broad.mit.edu	37	20	30897748	30897748	+	Silent	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30897748C>G	ENST00000375712.3	+	2	335	c.168C>G	c.(166-168)acC>acG	p.T56T		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	56	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCCCAAGACCTTCACCTTTG	0.498													5	61	---	---	---	---	0	0
JPH2	57158	broad.mit.edu	37	20	42747201	42747201	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:42747201T>C	ENST00000372980.3	-	3	2104	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	411					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AATGTTGGACTCCTGGTTGGC	0.612													7	191	---	---	---	---	0	0
LZTR1	8216	broad.mit.edu	37	22	21349317	21349317	+	Splice_Site	SNP	T	T	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr22:21349317T>G	ENST00000215739.8	+	16	2301		c.e16+2		LZTR1_ENST00000479606.1_Splice_Site|LZTR1_ENST00000389355.3_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGACATTGGTAGGGAGCCCC	0.647													9	92	---	---	---	---	0	0
ARSE	415	broad.mit.edu	37	X	2876456	2876456	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:2876456A>G	ENST00000545496.1	-	4	410	c.119T>C	c.(118-120)cTg>cCg	p.L40P	ARSE_ENST00000381134.3_Missense_Mutation_p.L15P|ARSE_ENST00000540563.1_Intron|ARSE_ENST00000496095.1_5'UTR	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	15					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCGCTGGCAGCCAGCTCCT	0.517													4	31	---	---	---	---	0	0
TFDP3	51270	broad.mit.edu	37	X	132351872	132351872	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:132351872G>A	ENST00000310125.4	-	1	504	c.416C>T	c.(415-417)gCc>gTc	p.A139V		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	139						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCTGAACTTGGCGACCAGCTC	0.552													4	47	---	---	---	---	0	0
RBMX	27316	broad.mit.edu	37	X	135961213	135961213	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:135961213G>T	ENST00000562646.1	-	3	333	c.179C>A	c.(178-180)gCa>gAa	p.A60E	RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E|RBMX_ENST00000320676.7_Missense_Mutation_p.A60E|RBMX_ENST00000565438.1_Intron			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	60	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTAGCGTCTGCTGGGCTTTC	0.383													5	100	---	---	---	---	0	0
NBPF1	55672	broad.mit.edu	37	1	16890543	16890543	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:16890543C>G	ENST00000430580.2	-	29	4202	c.3315G>C	c.(3313-3315)gaG>gaC	p.E1105D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1085	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTGCTGTTCCTCAAATGAGT	0.453													52	770	---	---	---	---	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577018	158577018	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:158577018G>A	ENST00000361284.1	+	1	790	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGGCCCAAAGCCAGCTACTC	0.483													5	243	---	---	---	---	0	0
XPR1	9213	broad.mit.edu	37	1	180793908	180793908	+	Silent	SNP	A	A	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:180793908A>T	ENST00000367590.4	+	8	981	c.783A>T	c.(781-783)acA>acT	p.T261T	XPR1_ENST00000367589.3_Silent_p.T261T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	261						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AACTTGAAACAGATAGAAGTA	0.338													10	43	---	---	---	---	0	0
POTEF	728378	broad.mit.edu	37	2	130877866	130877866	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr2:130877866T>C	ENST00000357462.5	-	1	316	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	POTEF_ENST00000409914.2_Missense_Mutation_p.S75G|POTEF_ENST00000360967.5_Missense_Mutation_p.S75G|POTEF_ENST00000361163.4_Missense_Mutation_p.S75G			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	75						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCTTGCCACTCCCCCTGCAG	0.592													3	202	---	---	---	---	0	0
NAALADL2	254827	broad.mit.edu	37	3	175041963	175041963	+	Splice_Site	SNP	G	G	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr3:175041963G>T	ENST00000454872.1	+	5	1067		c.e5-1		NAALADL2_ENST00000473253.1_Splice_Site	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2						proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCCTCTTTTAGCTTTCCTCAT	0.378													5	173	---	---	---	---	0	0
ATP13A5	344905	broad.mit.edu	37	3	193051645	193051645	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr3:193051645G>A	ENST00000342358.4	-	11	1283	c.1166C>T	c.(1165-1167)cCt>cTt	p.P389L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	389					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GAAGTTCAGAGGCCGGGGGTA	0.453													8	31	---	---	---	---	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661470	77661470	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr4:77661470A>G	ENST00000296043.6	+	5	3097	c.2144A>G	c.(2143-2145)cAt>cGt	p.H715R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	715					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTCGGGAGCCATCTGGACCGG	0.677													18	70	---	---	---	---	0	0
GPR98	84059	broad.mit.edu	37	5	89939768	89939768	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr5:89939768T>C	ENST00000405460.2	+	14	2798	c.2702T>C	c.(2701-2703)aTa>aCa	p.I901T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	901					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGTGATGATAAATGAAAGC	0.299													10	13	---	---	---	---	0	0
THEMIS	387357	broad.mit.edu	37	6	128134393	128134393	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr6:128134393C>A	ENST00000368250.1	-	5	1654	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y	THEMIS_ENST00000537166.1_Missense_Mutation_p.D430Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.D465Y|THEMIS_ENST00000368248.2_Missense_Mutation_p.D465Y			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	465	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.D465Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATGGAAAGATCCCTGACAGAC	0.468													7	43	---	---	---	---	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254909	24254909	+	Silent	SNP	G	G	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr8:24254909G>A	ENST00000538205.1	+	7	877	c.330G>A	c.(328-330)gtG>gtA	p.V110V	ADAMDEC1_ENST00000256412.4_Silent_p.V189V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.V110V	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	189					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CATGTGGTGTGAAGAGCACTG	0.438													35	137	---	---	---	---	0	0
ADCY8	114	broad.mit.edu	37	8	131859738	131859738	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr8:131859738A>T	ENST00000286355.5	-	11	4526	c.2434T>A	c.(2434-2436)Tcg>Acg	p.S812T	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	812					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGGGTATCGACTTGTCAAAA	0.393										HNSCC(32;0.087)			5	27	---	---	---	---	0	0
TRIM5	85363	broad.mit.edu	37	11	5701211	5701211	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr11:5701211T>G	ENST00000305836.5	-	2	499	c.197A>C	c.(196-198)aAc>aCc	p.N66T	TRIM5_ENST00000380027.1_Missense_Mutation_p.N66T|TRIM5_ENST00000396853.4_Missense_Mutation_p.N66T|TRIM5_ENST00000380034.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396855.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396847.3_Missense_Mutation_p.N66T			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	66					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AGGCCGTATGTTCTCAGGCTG	0.527													4	106	---	---	---	---	0	0
NEMF	9147	broad.mit.edu	37	14	50251653	50251653	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr14:50251653C>T	ENST00000298310.5	-	32	3592	c.3143G>A	c.(3142-3144)cGc>cAc	p.R1048H	NEMF_ENST00000382135.2_Missense_Mutation_p.R248H|NEMF_ENST00000546046.1_Missense_Mutation_p.R1027H|NEMF_ENST00000545773.1_Missense_Mutation_p.R1006H|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	1048						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTTACGCTGCGGAATAAGTC	0.333													15	65	---	---	---	---	0	0
ZNF592	9640	broad.mit.edu	37	15	85327345	85327345	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr15:85327345G>T	ENST00000299927.3	+	1	1461	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	ZNF592_ENST00000560079.2_Missense_Mutation_p.G480V			Q92610	ZN592_HUMAN	zinc finger protein 592	480					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCACAGACAGGCAAGAAGCAA	0.632													3	32	---	---	---	---	0	0
PRSS27	83886	broad.mit.edu	37	16	2770147	2770147	+	Silent	SNP	C	C	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr16:2770147C>T	ENST00000302641.3	-	1	69	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	5					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GCGGCACCGCCGCCGGCCGCC	0.692													4	4	---	---	---	---	0	0
ASPA	443	broad.mit.edu	37	17	3379480	3379480	+	Silent	SNP	A	A	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:3379480A>G	ENST00000263080.2	+	1	185	c.27A>G	c.(25-27)gaA>gaG	p.E9E	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.E9E	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	9					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTGCTGAAGAACATATACAAA	0.383													21	86	---	---	---	---	0	0
MYH1	4619	broad.mit.edu	37	17	10404784	10404784	+	Silent	SNP	C	C	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:10404784C>T	ENST00000226207.5	-	27	3475	c.3381G>A	c.(3379-3381)gaG>gaA	p.E1127E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1127						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCCGCTCTGCCTCGATTTCCT	0.542													3	51	---	---	---	---	0	0
GGNBP2	79893	broad.mit.edu	37	17	34934521	34934521	+	Silent	SNP	G	G	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:34934521G>A	ENST00000304718.4	+	7	1066	c.750G>A	c.(748-750)ttG>ttA	p.L250L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	250					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATGAAGGCTTGCGGTGCTGTC	0.458													67	152	---	---	---	---	0	0
PRKCSH	5589	broad.mit.edu	37	19	11560110	11560110	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:11560110G>A	ENST00000252455.2	+	17	1806	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	PRKCSH_ENST00000592741.1_Missense_Mutation_p.M497I|PRKCSH_ENST00000587327.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000412601.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000589838.1_Missense_Mutation_p.M490I|PRKCSH_ENST00000591462.1_Missense_Mutation_p.M487I	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	490					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						AAGAGACCATGGTGACCAGCA	0.692													5	66	---	---	---	---	0	0
FXYD3	5349	broad.mit.edu	37	19	35613746	35613746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:35613746G>T	ENST00000435734.2	+	7	434	c.175G>T	c.(175-177)Gag>Tag	p.E59*	FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000406242.3_Nonsense_Mutation_p.E59*|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000344013.6_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000346446.5_Nonsense_Mutation_p.E59*|FXYD3_ENST00000535103.1_Intron|FXYD3_ENST00000605677.1_Nonsense_Mutation_p.E59*|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000603524.1_Intron	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	58						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CGTCATGAGTGAGTGGAGGAG	0.632													4	135	---	---	---	---	0	0
ZNF571	51276	broad.mit.edu	37	19	38057181	38057181	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:38057181C>G	ENST00000328550.2	-	4	248	c.149G>C	c.(148-150)aGt>aCt	p.S50T	ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.S50T|ZNF571_ENST00000358744.3_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTCACACAACTGGATTCCAA	0.328													8	38	---	---	---	---	0	0
PAK7	57144	broad.mit.edu	37	20	9546933	9546933	+	Silent	SNP	T	T	C			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr20:9546933T>C	ENST00000378429.3	-	6	1635	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	PAK7_ENST00000378423.1_Silent_p.K363K|PAK7_ENST00000353224.5_Silent_p.K363K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	363	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AATAGCCCGATTTGCTTTGAC	0.557													3	142	---	---	---	---	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142699	18142699	+	Silent	SNP	A	A	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr20:18142699A>G	ENST00000435364.3	+	5	1259	c.918A>G	c.(916-918)aaA>aaG	p.K306K	CSRP2BP_ENST00000489634.2_Silent_p.K178K|CSRP2BP_ENST00000377681.3_Silent_p.K305K	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTCTGGAAAAAGGCGAAGTGA	0.542													3	102	---	---	---	---	0	0
TTI1	9675	broad.mit.edu	37	20	36639973	36639973	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr20:36639973T>C	ENST00000373448.2	-	3	2484	c.2246A>G	c.(2245-2247)tAc>tGc	p.Y749C	TTI1_ENST00000449821.1_Missense_Mutation_p.Y749C|TTI1_ENST00000373447.3_Missense_Mutation_p.Y749C	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	749							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCTCTTATCGTAAAATTGGTC	0.498													2	18	---	---	---	---	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499387	37499387	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr22:37499387G>A	ENST00000381792.2	-	2	211	c.71C>T	c.(70-72)cCg>cTg	p.P24L	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P33L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P33L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	33					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CATCCCCTCCGGCTCCGCTTC	0.662													3	113	---	---	---	---	0	0
POLA1	5422	broad.mit.edu	37	X	24861702	24861702	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chrX:24861702A>G	ENST00000379068.3	+	34	3998	c.3955A>G	c.(3955-3957)Atc>Gtc	p.I1319V	POLA1_ENST00000379059.3_Missense_Mutation_p.I1313V			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1313					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TTGCAGTAACATCGATTGTAA	0.373													13	16	---	---	---	---	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906446	144906446	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chrX:144906446G>T	ENST00000370490.1	+	1	6758	c.2503G>T	c.(2503-2505)Gtt>Ttt	p.V835F	SLITRK2_ENST00000413937.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V835F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	835						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCTCGAAGTTCTGGAAAA	0.468													21	14	---	---	---	---	0	0
EXTL1	2134	broad.mit.edu	37	1	26349783	26349783	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:26349783C>T	ENST00000374280.3	+	1	1513	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	216					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCAGCTGCGGCAACACAG	0.697													4	20	---	---	---	---	0	0
IFI16	3428	broad.mit.edu	37	1	158988436	158988436	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:158988436C>T	ENST00000295809.7	+	5	1222	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	IFI16_ENST00000359709.3_Missense_Mutation_p.H267Y|IFI16_ENST00000368131.4_Missense_Mutation_p.H323Y|IFI16_ENST00000340979.6_Missense_Mutation_p.H323Y|IFI16_ENST00000430894.2_Missense_Mutation_p.H271Y|IFI16_ENST00000448393.2_Missense_Mutation_p.H323Y|IFI16_ENST00000368132.3_Missense_Mutation_p.H323Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	323	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATTTATGCTACATAAGGTAAG	0.338													16	15	---	---	---	---	0	0
PTPRC	5788	broad.mit.edu	37	1	198719701	198719701	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:198719701C>T	ENST00000367376.2	+	29	3318	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F	PTPRC_ENST00000352140.3_Silent_p.F1001F|PTPRC_ENST00000348564.6_Silent_p.F890F|PTPRC_ENST00000442510.2_Silent_p.F1051F|PTPRC_ENST00000594404.1_Silent_p.F888F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1049	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGATGATCTTCCAAAGAAAAG	0.393													13	83	---	---	---	---	0	0
OR2T2	401992	broad.mit.edu	37	1	248616338	248616338	+	Silent	SNP	C	C	T	rs145622684		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:248616338C>T	ENST00000342927.3	+	1	262	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTGTCCCCAAGATGCTCC	0.522													6	174	---	---	---	---	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249118997	249118997	+	Silent	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:249118997G>T	ENST00000366472.5	-	2	1367	c.138C>A	c.(136-138)gcC>gcA	p.A46A	SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	46										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGGACAATTTGGCCTCACTGC	0.577													64	131	---	---	---	---	0	0
LTBP1	4052	broad.mit.edu	37	2	33567955	33567955	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:33567955G>A	ENST00000404816.2	+	25	4134	c.3781G>A	c.(3781-3783)Gac>Aac	p.D1261N	LTBP1_ENST00000402934.1_Missense_Mutation_p.D882N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D935N|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000404525.1_Missense_Mutation_p.D882N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D936N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1262N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1261	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CGGGTTTTGTGACAATACAGC	0.448													5	75	---	---	---	---	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489328	133489328	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:133489328G>A	ENST00000409261.1	-	17	5798	c.5425C>T	c.(5425-5427)Ccc>Tcc	p.P1809S	NCKAP5_ENST00000405974.3_Missense_Mutation_p.P490S|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P490S|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1809S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1809							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGGTTTGGGGAGGCGGCTC	0.512													3	32	---	---	---	---	0	0
NRP2	8828	broad.mit.edu	37	2	206562279	206562279	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:206562279G>A	ENST00000360409.3	+	2	876	c.85G>A	c.(85-87)Gga>Aga	p.G29R	NRP2_ENST00000540178.1_Missense_Mutation_p.G29R|NRP2_ENST00000417189.1_Missense_Mutation_p.G29R|NRP2_ENST00000272849.3_Missense_Mutation_p.G29R|NRP2_ENST00000357785.5_Missense_Mutation_p.G29R|NRP2_ENST00000540841.1_Missense_Mutation_p.G29R|NRP2_ENST00000412873.2_Missense_Mutation_p.G29R|NRP2_ENST00000357118.4_Missense_Mutation_p.G29R|NRP2_ENST00000355117.4_Missense_Mutation_p.G29R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	29	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.G29*(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCACCGTGCGGAGGTCGTTT	0.512													143	316	---	---	---	---	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606147	21606147	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:21606147G>T	ENST00000281523.2	-	3	713	c.195C>A	c.(193-195)aaC>aaA	p.N65K	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	65						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CGAATGTATGGTTTATTACAG	0.348													26	65	---	---	---	---	0	0
CCDC66	285331	broad.mit.edu	37	3	56651182	56651182	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:56651182G>A	ENST00000394672.3	+	14	1956	c.1886G>A	c.(1885-1887)tGt>tAt	p.C629Y	CCDC66_ENST00000436465.2_Missense_Mutation_p.C629Y|CCDC66_ENST00000326595.7_Missense_Mutation_p.C595Y	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	629										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAATCACATTGTGGATCATTA	0.299													9	37	---	---	---	---	0	0
C4orf19	55286	broad.mit.edu	37	4	37592096	37592096	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:37592096G>T	ENST00000284437.6	+	3	597	c.419G>T	c.(418-420)gGg>gTg	p.G140V	C4orf19_ENST00000381980.4_Missense_Mutation_p.G140V|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	140										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CTGGAAGGAGGGGGCACCAGG	0.577													3	88	---	---	---	---	0	0
FAM13A	10144	broad.mit.edu	37	4	89671667	89671667	+	Silent	SNP	G	G	C			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:89671667G>C	ENST00000264344.5	-	15	2055	c.1848C>G	c.(1846-1848)ctC>ctG	p.L616L	FAM13A_ENST00000503556.1_Silent_p.L276L|FAM13A_ENST00000508369.1_Silent_p.L290L|FAM13A_ENST00000511976.1_Silent_p.L202L|FAM13A_ENST00000513837.1_Silent_p.L262L|FAM13A_ENST00000395002.2_Silent_p.L290L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	616					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACCGAGGAGAGAGCATGGGGT	0.577													31	51	---	---	---	---	0	0
CMYA5	202333	broad.mit.edu	37	5	79028525	79028525	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:79028525C>T	ENST00000446378.2	+	2	3968	c.3937C>T	c.(3937-3939)Cct>Tct	p.P1313S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1313						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACAACTACACCTATAGTGCT	0.378													4	11	---	---	---	---	0	0
VCAN	1462	broad.mit.edu	37	5	82849251	82849251	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:82849251C>T	ENST00000265077.3	+	11	10127	c.9562C>T	c.(9562-9564)Cgc>Tgc	p.R3188C	VCAN_ENST00000502527.2_Missense_Mutation_p.R447C|VCAN_ENST00000512590.2_Missense_Mutation_p.R1386C|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Missense_Mutation_p.R1434C|VCAN_ENST00000343200.5_Missense_Mutation_p.R2201C|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3188	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCCCATCGACGCACATGGGA	0.483													31	174	---	---	---	---	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100231395	100231395	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:100231395C>G	ENST00000231461.5	-	2	518	c.208G>C	c.(208-210)Ggt>Cgt	p.G70R	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.G70R	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	70					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATTTTCCAACCTTCTACATTG	0.388													17	42	---	---	---	---	0	0
MUC3A	4584	broad.mit.edu	37	7	100609803	100609803	+	Splice_Site	SNP	A	A	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr7:100609803A>T	ENST00000319509.7	+	9	2444		c.e9-1		RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GGCCCCACCTAGGTCCTGGGA	0.692													7	91	---	---	---	---	0	0
MTBP	27085	broad.mit.edu	37	8	121519023	121519023	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr8:121519023A>T	ENST00000305949.1	+	16	1850	c.1805A>T	c.(1804-1806)gAt>gTt	p.D602V		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	602	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ACATTGTTGGATGCTAAAGAA	0.398													18	56	---	---	---	---	0	0
TG	7038	broad.mit.edu	37	8	134026000	134026000	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr8:134026000C>T	ENST00000220616.4	+	37	6593	c.6553C>T	c.(6553-6555)Cgg>Tgg	p.R2185W	TG_ENST00000377869.1_Missense_Mutation_p.R2128W|TG_ENST00000542445.1_Missense_Mutation_p.R555W|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.R318W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2185					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCACATCTACCGGAAGCCAGG	0.517													6	22	---	---	---	---	0	0
C9orf84	158401	broad.mit.edu	37	9	114468873	114468873	+	Silent	SNP	C	C	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr9:114468873C>A	ENST00000394779.3	-	16	2647	c.2403G>T	c.(2401-2403)gtG>gtT	p.V801V	C9orf84_ENST00000318737.4_Silent_p.V840V|C9orf84_ENST00000374287.3_Silent_p.V840V|C9orf84_ENST00000394777.4_Silent_p.V766V	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	840										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGAAGAATCACTTTAAAGG	0.299													39	71	---	---	---	---	0	0
GAD2	2572	broad.mit.edu	37	10	26506583	26506583	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr10:26506583G>A	ENST00000376261.3	+	2	624	c.121G>A	c.(121-123)Gga>Aga	p.G41R	GAD2_ENST00000259271.3_Missense_Mutation_p.G41R	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	41					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GGGCGGCATCGGAAACAAACT	0.632													3	27	---	---	---	---	0	0
ARAP1	116985	broad.mit.edu	37	11	72420926	72420926	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:72420926G>A	ENST00000359373.5	-	11	2363	c.1512C>T	c.(1510-1512)taC>taT	p.Y504Y	ARAP1_ENST00000426523.1_Silent_p.Y259Y|ARAP1_ENST00000334211.8_Silent_p.Y259Y|ARAP1_ENST00000455638.2_Silent_p.Y504Y|ARAP1_ENST00000429686.1_Silent_p.Y259Y|ARAP1_ENST00000393609.3_Silent_p.Y504Y|ARAP1_ENST00000393605.3_Silent_p.Y264Y			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	504	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGAAGATGCGGTAGGGCGTGG	0.577													4	174	---	---	---	---	0	0
MTERFD3	80298	broad.mit.edu	37	12	107371603	107371603	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr12:107371603G>A	ENST00000552029.1	-	2	2958	c.890C>T	c.(889-891)cCa>cTa	p.P297L	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.P297L|MTERFD3_ENST00000392830.2_Missense_Mutation_p.P297L			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTCTAAAACTGGAACAGAATA	0.348													23	49	---	---	---	---	0	0
VWA8	23078	broad.mit.edu	37	13	42259307	42259307	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr13:42259307G>A	ENST00000379310.3	-	35	4271	c.4203C>T	c.(4201-4203)ttC>ttT	p.F1401F		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TTCCTCTATAGAATGATGTAT	0.393													7	28	---	---	---	---	0	0
KCNRG	0	broad.mit.edu	37	13	50594457	50594457	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr13:50594457G>T	ENST00000312942.1	+	2	926	c.686G>T	c.(685-687)aGa>aTa	p.R229I	TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	229						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		GTCAGCACTAGAACAGTATCT	0.388													11	23	---	---	---	---	0	0
FLRT2	23768	broad.mit.edu	37	14	86089672	86089672	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:86089672C>A	ENST00000330753.4	+	2	2581	c.1814C>A	c.(1813-1815)aCc>aAc	p.T605N	FLRT2_ENST00000554746.1_Missense_Mutation_p.T605N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	605					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATGACAGAAACCAGTTTTCAG	0.473													4	160	---	---	---	---	0	0
CCNF	899	broad.mit.edu	37	16	2506639	2506639	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:2506639C>T	ENST00000397066.4	+	17	2067	c.1979C>T	c.(1978-1980)cCa>cTa	p.P660L	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	660	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GAGGCTTGTCCAGAGGACAAG	0.632													5	38	---	---	---	---	0	0
C16orf70	80262	broad.mit.edu	37	16	67159901	67159901	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:67159901G>T	ENST00000219139.3	+	3	375	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.D63Y	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	63										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CCTGACTCAGGACGGGATCAA	0.378													32	81	---	---	---	---	0	0
SNAI3	333929	broad.mit.edu	37	16	88747582	88747582	+	Missense_Mutation	SNP	G	G	A	rs139790709		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:88747582G>A	ENST00000332281.5	-	2	703	c.617C>T	c.(616-618)aCg>aTg	p.T206M	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	206					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GCAGGGCAGCGTGTGAGTGCG	0.612													16	168	---	---	---	---	0	0
TMEM102	284114	broad.mit.edu	37	17	7340329	7340329	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:7340329C>T	ENST00000323206.1	+	3	1304	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	TMEM102_ENST00000396568.1_Missense_Mutation_p.S344L|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	344					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				GCCTCTGAGTCGGCTTCCTTC	0.726													6	6	---	---	---	---	0	0
STAC2	342667	broad.mit.edu	37	17	37369333	37369333	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:37369333A>T	ENST00000333461.5	-	10	1415	c.1046T>A	c.(1045-1047)gTg>gAg	p.V349E		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	349	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GCCTGGCCTCACCCGTTGCAC	0.602													4	85	---	---	---	---	0	0
EPX	8288	broad.mit.edu	37	17	56274484	56274484	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:56274484C>T	ENST00000225371.5	+	7	1096	c.986C>T	c.(985-987)aCc>aTc	p.T329I		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	329					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CGCAACCGGACCAACTACCTG	0.622													51	87	---	---	---	---	0	0
ZNF407	55628	broad.mit.edu	37	18	72343683	72343683	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr18:72343683A>T	ENST00000299687.5	+	1	708	c.708A>T	c.(706-708)caA>caT	p.Q236H	ZNF407_ENST00000577538.1_Missense_Mutation_p.Q236H|ZNF407_ENST00000309902.6_Missense_Mutation_p.Q236H|ZNF407_ENST00000582337.1_Missense_Mutation_p.Q236H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATATCAAACAAGCACATGGGC	0.443													31	76	---	---	---	---	0	0
AKAP8	10270	broad.mit.edu	37	19	15471682	15471682	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:15471682C>T	ENST00000269701.2	-	12	1564	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	502					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTGTGGTCCACGGAGTGCAGG	0.607													9	22	---	---	---	---	0	0
MLC1	23209	broad.mit.edu	37	22	50512646	50512646	+	Splice_Site	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr22:50512646G>A	ENST00000311597.5	-	8	1319	c.713C>T	c.(712-714)gCc>gTc	p.A238V	MLC1_ENST00000538737.1_Splice_Site_p.A204V|MLC1_ENST00000395876.2_Splice_Site_p.A238V|MLC1_ENST00000450140.2_Splice_Site_p.A186V|MLC1_ENST00000431262.2_Splice_Site_p.A208V|MLC1_ENST00000535444.1_Splice_Site_p.A159V	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	238						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTTACTCACGGCCACTAGGAT	0.622													12	16	---	---	---	---	0	0
USP9X	8239	broad.mit.edu	37	X	40999970	40999970	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chrX:40999970A>G	ENST00000324545.8	+	7	1349	c.716A>G	c.(715-717)gAt>gGt	p.D239G	USP9X_ENST00000378308.2_Missense_Mutation_p.D239G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTTTGCATGATCGTTTTATT	0.328													5	31	---	---	---	---	0	0
ZFP69	339559	broad.mit.edu	37	1	40960881	40960881	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:40960881A>C	ENST00000372706.1	+	6	1737	c.731A>C	c.(730-732)aAa>aCa	p.K244T	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.K244T					ZFP69 zinc finger protein																		AGGCACCATAAATATGATACA	0.318													3	20	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152285852	152285852	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:152285852A>G	ENST00000368799.1	-	3	1545	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	504	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGCCTGGAGCTGTCTCGT	0.607									Ichthyosis				28	648	---	---	---	---	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378681	113378681	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr3:113378681A>T	ENST00000316407.4	-	7	2258	c.1848T>A	c.(1846-1848)aaT>aaA	p.N616K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N616K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	616					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCACTGAATTATTAGACCCTA	0.448													5	35	---	---	---	---	0	0
ADRA2C	152	broad.mit.edu	37	4	3769634	3769634	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr4:3769634C>G	ENST00000330055.5	+	1	1510	c.1301C>G	c.(1300-1302)cCg>cGg	p.P434R	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	434					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCGCTCAACCCGGTCATCTAC	0.597													3	43	---	---	---	---	0	0
SMARCA5	8467	broad.mit.edu	37	4	144469277	144469277	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr4:144469277A>G	ENST00000283131.3	+	22	3431	c.2969A>G	c.(2968-2970)aAg>aGg	p.K990R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	990	SANT 2.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TGGTTTCTTAAGTCCAGAACT	0.373													2	15	---	---	---	---	0	0
ATF6B	1388	broad.mit.edu	37	6	32083517	32083517	+	Silent	SNP	C	C	T			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr6:32083517C>T	ENST00000375201.4	-	18	2147	c.2102G>A	c.(2101-2103)tGa>tAa	p.*701*	ATF6B_ENST00000375203.3_Silent_p.*704*			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	0					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGGCAGAGGTCAGGGATGATT	0.617													5	161	---	---	---	---	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110437366	110437366	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr8:110437366C>A	ENST00000378402.5	+	24	2854	c.2750C>A	c.(2749-2751)cCa>cAa	p.P917Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	917					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATAATTGGCCAGGCGAGTCA	0.338										HNSCC(38;0.096)			2	6	---	---	---	---	0	0
OR4C6	219432	broad.mit.edu	37	11	55432916	55432916	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr11:55432916C>G	ENST00000314259.3	+	1	303	c.274C>G	c.(274-276)Ctc>Gtc	p.L92V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TACCATCTCTCTCAAAGGCTG	0.502													6	52	---	---	---	---	0	0
CADM1	23705	broad.mit.edu	37	11	115047194	115047194	+	Nonstop_Mutation	SNP	C	C	A			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr11:115047194C>A	ENST00000452722.3	-	10	1349	c.1329G>T	c.(1327-1329)taG>taT	p.*443Y	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Nonstop_Mutation_p.*472Y|CADM1_ENST00000542447.2_Nonstop_Mutation_p.*415Y|CADM1_ENST00000536727.1_Nonstop_Mutation_p.*444Y|CADM1_ENST00000537058.1_Nonstop_Mutation_p.*454Y	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1						adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		AAAGGCTGATCTAGATGAAGT	0.418													7	74	---	---	---	---	0	0
TRPV2	51393	broad.mit.edu	37	17	16335412	16335412	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:16335412C>A	ENST00000338560.7	+	12	2186	c.1787C>A	c.(1786-1788)gCc>gAc	p.A596D	TRPV2_ENST00000577397.1_Missense_Mutation_p.A166D|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	596					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCCTGGAAGCCTCCTTGGAG	0.632													7	123	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:47696426A>G	ENST00000393331.3	-	7	867	c.397T>C	c.(397-399)Ttc>Ctc	p.F133L	SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			5	79	---	---	---	---	0	0
GCG	2641	broad.mit.edu	37	2	163005635	163005635	+	Silent	SNP	G	G	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr2:163005635G>A	ENST00000418842.2	-	2	308	c.54C>T	c.(52-54)agC>agT	p.S18S	GCG_ENST00000375497.3_Silent_p.S18S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	18					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	AACGTTGCCAGCTGCCTTGTA	0.438													10	77	---	---	---	---	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627235	43627235	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr9:43627235T>A	ENST00000332857.6	-	4	1480	c.1452A>T	c.(1450-1452)caA>caT	p.Q484H		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TGGGCAGGAATTGGGGTGTGG	0.537													30	142	---	---	---	---	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255016	15255016	+	Silent	SNP	G	G	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:15255016G>A	ENST00000378116.4	-	8	2577	c.2571C>T	c.(2569-2571)caC>caT	p.H857H		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	857						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCTCTTCCTCGTGGGCAGATC	0.592													6	68	---	---	---	---	0	0
TET1	80312	broad.mit.edu	37	10	70332588	70332588	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:70332588G>C	ENST00000373644.4	+	2	702	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	165					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGACACCCAAGTCCTTCCTGA	0.398													4	39	---	---	---	---	0	0
BAHD1	22893	broad.mit.edu	37	15	40754435	40754435	+	Missense_Mutation	SNP	G	G	A	rs143007309		TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr15:40754435G>A	ENST00000561234.1	+	3	2013	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H	BAHD1_ENST00000416165.1_Missense_Mutation_p.R586H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R586H			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	586	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGCCGTCGCCGCCGCACTAAT	0.647													4	95	---	---	---	---	0	0
PLCG2	5336	broad.mit.edu	37	16	81965227	81965227	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr16:81965227A>G	ENST00000359376.3	+	25	2921	c.2707A>G	c.(2707-2709)Atc>Gtc	p.I903V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	903					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTTTCAGAGCATCCGAGAGAT	0.577													5	61	---	---	---	---	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445898	87445898	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr16:87445898C>A	ENST00000268616.4	-	12	2235	c.2018G>T	c.(2017-2019)cGg>cTg	p.R673L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	673					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CAGAGCAGTCCGGGGGTTTAT	0.507													9	73	---	---	---	---	0	0
TSR1	55720	broad.mit.edu	37	17	2236286	2236286	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr17:2236286T>C	ENST00000301364.5	-	7	2353	c.1274A>G	c.(1273-1275)gAa>gGa	p.E425G		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)		Glu-rich.				ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						ATCCTCATGTTCCATATCATC	0.448													5	28	---	---	---	---	0	0
ATG4D	84971	broad.mit.edu	37	19	10663643	10663643	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr19:10663643A>G	ENST00000309469.4	+	10	1498	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	ATG4D_ENST00000540862.1_Missense_Mutation_p.D109G	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	442					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGCCTGGACGACCTCTGCTCC	0.642													3	61	---	---	---	---	0	0
PADI4	23569	broad.mit.edu	37	1	17690079	17690079	+	Silent	SNP	C	C	T	rs143565531		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr1:17690079C>T	ENST00000375448.4	+	16	1847	c.1821C>T	c.(1819-1821)aaC>aaT	p.N607N		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	607					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCGTCATCAACGGCCGCTGCT	0.612													16	20	---	---	---	---	0	0
HTR1D	3352	broad.mit.edu	37	1	23520453	23520453	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr1:23520453A>G	ENST00000374619.1	-	1	769	c.260T>C	c.(259-261)gTt>gCt	p.V87A	HTR1D_ENST00000314113.3_Missense_Mutation_p.V87A	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	87					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAAGATGGAAACCAAGAGGTC	0.532													45	145	---	---	---	---	0	0
NCK2	8440	broad.mit.edu	37	2	106497794	106497794	+	Silent	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:106497794G>A	ENST00000233154.4	+	4	679	c.237G>A	c.(235-237)aaG>aaA	p.K79K	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Silent_p.K79K|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	79					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GCCTCGGCAAGACGCGCAGGA	0.672													10	28	---	---	---	---	0	0
MFN1	55669	broad.mit.edu	37	3	179085842	179085842	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr3:179085842G>T	ENST00000471841.1	+	9	1052	c.926G>T	c.(925-927)gGa>gTa	p.G309V	MFN1_ENST00000280653.7_Missense_Mutation_p.G309V|MFN1_ENST00000263969.5_Missense_Mutation_p.G309V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	309					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTGCTGAAGGATTTCATGCA	0.333													3	51	---	---	---	---	0	0
SHROOM3	57619	broad.mit.edu	37	4	77677870	77677870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:77677870C>T	ENST00000296043.6	+	8	5931	c.4978C>T	c.(4978-4980)Cag>Tag	p.Q1660*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1660					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTGATCCTCAGAAGAGTTC	0.488													5	64	---	---	---	---	0	0
ETNPPL	64850	broad.mit.edu	37	4	109675832	109675832	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:109675832T>A	ENST00000296486.3	-	5	599	c.445A>T	c.(445-447)Att>Ttt	p.I149F	ETNPPL_ENST00000510706.1_Missense_Mutation_p.I109F|ETNPPL_ENST00000512646.1_Missense_Mutation_p.I91F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.I143F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TATGGGCTAATCTCAATTAAG	0.313													19	40	---	---	---	---	0	0
HLA-G	3135	broad.mit.edu	37	6	29797242	29797242	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:29797242G>A	ENST00000428701.1	+	5	845	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.A228T|HLA-G_ENST00000360323.6_Missense_Mutation_p.A223T|HLA-G_ENST00000376818.3_Missense_Mutation_p.A131T	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	223	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGACTATGAGGCCACCCTGAG	0.582													9	192	---	---	---	---	0	0
CDK19	23097	broad.mit.edu	37	6	110944514	110944514	+	Silent	SNP	A	A	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:110944514A>T	ENST00000368911.3	-	9	1091	c.912T>A	c.(910-912)ccT>ccA	p.P304P	CDK19_ENST00000323817.3_Silent_p.P244P|CDK19_ENST00000413605.2_Silent_p.P180P	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	304	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTTTGCTGTCAGGCTTGACCT	0.458													3	123	---	---	---	---	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72683335	72683335	+	RNA	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr7:72683335C>T	ENST00000425256.1	-	0	188																											TGCACTACCACAGCCGACTGG	0.498													46	101	---	---	---	---	0	0
DHTKD1	55526	broad.mit.edu	37	10	12133636	12133636	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:12133636C>T	ENST00000263035.4	+	6	1174	c.1112C>T	c.(1111-1113)aCc>aTc	p.T371I	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	371					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGGGTTACACCACTCCAGCT	0.448													5	91	---	---	---	---	0	0
FAM53B	9679	broad.mit.edu	37	10	126370270	126370270	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:126370270C>G	ENST00000337318.3	-	4	1023	c.812G>C	c.(811-813)tGt>tCt	p.C271S	FAM53B_ENST00000392754.3_Missense_Mutation_p.C271S|FAM53B_ENST00000280780.6_Missense_Mutation_p.C271S|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	271										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GTTAAGGACACACGGCTGGGA	0.577													3	7	---	---	---	---	0	0
DCHS1	8642	broad.mit.edu	37	11	6652623	6652623	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:6652623G>C	ENST00000299441.3	-	8	4102	c.3691C>G	c.(3691-3693)Cct>Gct	p.P1231A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1231	Cadherin 12.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCCCGGAGGCACGCGGTCT	0.552													18	150	---	---	---	---	0	0
OR4D6	219983	broad.mit.edu	37	11	59225028	59225028	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:59225028A>G	ENST00000300127.2	+	1	618	c.595A>G	c.(595-597)Atg>Gtg	p.M199V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGAGCTTTTCATGATCTCTAA	0.537													8	116	---	---	---	---	0	0
SLC39A5	283375	broad.mit.edu	37	12	56628745	56628745	+	Silent	SNP	T	T	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:56628745T>A	ENST00000266980.4	+	4	902	c.609T>A	c.(607-609)ccT>ccA	p.P203P	SLC39A5_ENST00000454355.2_Silent_p.P203P	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	203					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCGGCCCCTGCACCCCCAG	0.627													46	102	---	---	---	---	0	0
HNF1A	6927	broad.mit.edu	37	12	121434123	121434123	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:121434123C>T	ENST00000257555.6	+	5	1240	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_ENST00000541395.1_Silent_p.G338G|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000402929.1_Silent_p.G338G			P20823	HNF1A_HUMAN	HNF1 homeobox A	338					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622									Hepatic Adenoma, Familial Clustering of				18	171	---	---	---	---	0	0
CHD8	57680	broad.mit.edu	37	14	21860705	21860705	+	Silent	SNP	T	T	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:21860705T>A	ENST00000399982.2	-	33	6796	c.6732A>T	c.(6730-6732)cgA>cgT	p.R2244R	CHD8_ENST00000557364.1_Silent_p.R2244R|CHD8_ENST00000430710.3_Silent_p.R1965R	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2244					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATCCATGCCTCGGCGAAGTT	0.517													13	194	---	---	---	---	0	0
SRP54	6729	broad.mit.edu	37	14	35470176	35470176	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:35470176C>G	ENST00000556994.1	+	5	602	c.205C>G	c.(205-207)Ctt>Gtt	p.L69V	SRP54_ENST00000546080.1_Missense_Mutation_p.L20V|SRP54_ENST00000216774.6_Missense_Mutation_p.L69V|SRP54_ENST00000555557.1_Missense_Mutation_p.L5V|SRP54_ENST00000555535.1_3'UTR			P61011	SRP54_HUMAN	signal recognition particle 54kDa	69	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	p.L69V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GGCATCTGGTCTTAACAAAAG	0.353													9	30	---	---	---	---	0	0
TTC6	319089	broad.mit.edu	37	14	38296498	38296498	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:38296498C>T	ENST00000553443.1	+	29	5225	c.5225C>T	c.(5224-5226)aCt>aTt	p.T1742I	TTC6_ENST00000476979.1_Missense_Mutation_p.T376I|TTC6_ENST00000382320.3_Missense_Mutation_p.T456I|TTC6_ENST00000267368.7_Missense_Mutation_p.T376I					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GATGCAATTACTCTAAACCCC	0.403													68	103	---	---	---	---	0	0
CHGA	1113	broad.mit.edu	37	14	93399080	93399080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:93399080C>T	ENST00000216492.5	+	7	1454	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	CHGA_ENST00000334654.4_Nonsense_Mutation_p.R241*	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	392					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GCAGCTGCGACGAGGCTGGAG	0.701													6	10	---	---	---	---	0	0
JAG2	3714	broad.mit.edu	37	14	105618060	105618060	+	Silent	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:105618060G>A	ENST00000331782.3	-	8	1459	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	JAG2_ENST00000347004.2_Silent_p.T352T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	352	EGF-like 4.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACGGGTTGGAGGTGCAGGCGT	0.682													3	34	---	---	---	---	0	0
USP8	9101	broad.mit.edu	37	15	50790907	50790907	+	Silent	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr15:50790907T>C	ENST00000433963.1	+	20	3653	c.3153T>C	c.(3151-3153)taT>taC	p.Y1051Y	USP8_ENST00000307179.4_Silent_p.Y1051Y|USP8_ENST00000425032.3_Silent_p.Y945Y|USP8_ENST00000396444.3_Silent_p.Y1051Y|RP11-562A8.4_ENST00000560380.1_RNA			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1051					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGAAGAAATATAATTTGTTTT	0.328													15	41	---	---	---	---	0	0
CHD9	80205	broad.mit.edu	37	16	53243397	53243397	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:53243397C>A	ENST00000566029.1	+	3	1665	c.1456C>A	c.(1456-1458)Cca>Aca	p.P486T	CHD9_ENST00000447540.1_Missense_Mutation_p.P486T|CHD9_ENST00000564845.1_Missense_Mutation_p.P486T|CHD9_ENST00000398510.3_Missense_Mutation_p.P486T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	486					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCTGTAGCCTCCATCTTCCAA	0.348													5	14	---	---	---	---	0	0
CDH3	1001	broad.mit.edu	37	16	68712160	68712160	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:68712160T>C	ENST00000264012.4	+	4	914	c.370T>C	c.(370-372)Ttc>Ctc	p.F124L	CDH3_ENST00000581171.1_Missense_Mutation_p.F69L|CDH3_ENST00000429102.2_Missense_Mutation_p.F124L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	124	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CAAGGGTCCCTTCCCCCAGAG	0.507													34	96	---	---	---	---	0	0
NCOR1	9611	broad.mit.edu	37	17	15965015	15965015	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:15965015T>C	ENST00000268712.3	-	37	5838	c.5581A>G	c.(5581-5583)Agt>Ggt	p.S1861G	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.S445G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1861	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCTGTTCACTAACTGCTGCT	0.483													43	97	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:47696424G>C	ENST00000393331.3	-	7	869	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)			54	91	---	---	---	---	0	0
LINC00478	0	broad.mit.edu	37	21	17443441	17443441	+	RNA	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr21:17443441T>C	ENST00000458468.1	+	0	35					NR_027790.1																						TAGATGGATCTGAGAACGCTG	0.463													40	130	---	---	---	---	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62857909	62857909	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:62857909C>T	ENST00000253401.6	-	10	2350	c.1550G>A	c.(1549-1551)tGa>tAa	p.*517*	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Silent_p.*464*|ARHGEF9_ENST00000374872.1_Silent_p.*496*|ARHGEF9_ENST00000374870.4_Silent_p.*415*|ARHGEF9_ENST00000433323.2_Silent_p.*244*|ARHGEF9_ENST00000374878.1_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	0					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGTAGGTATCATTTTTTGAA	0.403													6	1	---	---	---	---	0	0
RGAG4	340526	broad.mit.edu	37	X	71351091	71351091	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:71351091C>T	ENST00000545866.1	-	1	667	c.300G>A	c.(298-300)tcG>tcA	p.S100S	RGAG4_ENST00000609883.1_Silent_p.S100S|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	100										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AAAGATCATCCGAGATACAGT	0.657													9	5	---	---	---	---	0	0
CASZ1	54897	broad.mit.edu	37	1	10709155	10709155	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:10709155T>G	ENST00000377022.3	-	15	3447	c.3130A>C	c.(3130-3132)Acc>Ccc	p.T1044P	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.T1044P	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1044					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCGTCCAAGGTGCTGAAGAGC	0.622													4	29	---	---	---	---	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144930736	144930736	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:144930736C>T	ENST00000529945.1	-	1	1412	c.973G>A	c.(973-975)Ggc>Agc	p.G325S	PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G325S|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGCTAGGGCCAGGCTTGGCT	0.498			T	PDGFRB	MPD								7	103	---	---	---	---	0	0
ITLN1	55600	broad.mit.edu	37	1	160851965	160851965	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:160851965C>T	ENST00000326245.3	-	4	302	c.187G>A	c.(187-189)Ggt>Agt	p.G63S		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	63	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TAGATAACACCATTCTCAGTG	0.557													17	40	---	---	---	---	0	0
MDM4	4194	broad.mit.edu	37	1	204513776	204513776	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:204513776A>C	ENST00000367182.3	+	9	948	c.786A>C	c.(784-786)caA>caC	p.Q262H	MDM4_ENST00000454264.2_Intron|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000507825.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	262	Asp/Glu-rich (acidic).|Region II.				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATACTGAACAAACAAGTGAAG	0.363			A		"""GBM, bladder, retinoblastoma"""								15	31	---	---	---	---	0	0
USH2A	7399	broad.mit.edu	37	1	215963438	215963438	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:215963438A>T	ENST00000366943.2	-	51	10531	c.10145T>A	c.(10144-10146)gTt>gAt	p.V3382D	USH2A_ENST00000307340.3_Missense_Mutation_p.V3382D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3382					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCAGAGCAAACATATTTCAA	0.378										HNSCC(13;0.011)			13	47	---	---	---	---	0	0
RNF144A	9781	broad.mit.edu	37	2	7160686	7160686	+	Silent	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:7160686G>A	ENST00000320892.6	+	6	826	c.384G>A	c.(382-384)caG>caA	p.Q128Q	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	128						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGGGGCTGCAGACCCCCCAGC	0.627													14	70	---	---	---	---	0	0
ACTR3	10096	broad.mit.edu	37	2	114714958	114714958	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:114714958C>G	ENST00000263238.2	+	12	1503	c.1183C>G	c.(1183-1185)Cac>Gac	p.H395D	ACTR3_ENST00000536059.1_Missense_Mutation_p.H333D|ACTR3_ENST00000535589.2_Missense_Mutation_p.H344D	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	395					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CCAAGTATGCCACACCAAAAA	0.338													6	47	---	---	---	---	0	0
ANKRD28	23243	broad.mit.edu	37	3	15721039	15721039	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:15721039T>G	ENST00000399451.2	-	22	2698	c.2331A>C	c.(2329-2331)gaA>gaC	p.E777D	ANKRD28_ENST00000383777.1_Missense_Mutation_p.E810D|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	777						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AAACTTCCTGTTCTAAAAGCA	0.368													2	13	---	---	---	---	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266097	41266097	+	Missense_Mutation	SNP	G	G	T	rs28931588		TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:41266097G>T	ENST00000349496.5	+	3	374	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTCTTACCTGGACTCTGGAAT	0.478	D32N(KE39_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	28	---	---	---	---	0	0
PARP14	54625	broad.mit.edu	37	3	122447397	122447397	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:122447397T>G	ENST00000474629.2	+	17	5625	c.5359T>G	c.(5359-5361)Tat>Gat	p.Y1787D		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1787	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTGGCATTTTATGACTACCA	0.363													28	77	---	---	---	---	0	0
PCDH18	54510	broad.mit.edu	37	4	138442613	138442613	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr4:138442613T>A	ENST00000344876.4	-	4	3364	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	PCDH18_ENST00000510305.1_Missense_Mutation_p.D204V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D173V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D992V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D772V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	993	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGTGTCCTCATCGTTTGGGGA	0.512													17	48	---	---	---	---	0	0
ANKH	56172	broad.mit.edu	37	5	14711384	14711384	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr5:14711384C>T	ENST00000284268.6	-	12	1731	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	ANKH_ENST00000535119.1_Silent_p.G269G	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	467					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGAGTCTTCCCCCTCCGTGG	0.542													44	133	---	---	---	---	0	0
BEND3	57673	broad.mit.edu	37	6	107390917	107390917	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr6:107390917G>A	ENST00000429433.2	-	5	2127	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L	BEND3_ENST00000369042.1_Missense_Mutation_p.P493L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	493										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						ATCACGCGGGGGGTCGCCTTC	0.682													12	18	---	---	---	---	0	0
MTUS1	57509	broad.mit.edu	37	8	17611561	17611561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr8:17611561G>A	ENST00000381869.3	-	2	2229	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	MTUS1_ENST00000262102.6_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q586*	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	586						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGCACAGCCTGGCTAGTAATG	0.398													8	118	---	---	---	---	0	0
ZNF782	158431	broad.mit.edu	37	9	99581089	99581089	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:99581089T>A	ENST00000481138.1	-	6	1877	c.1216A>T	c.(1216-1218)Aag>Tag	p.K406*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K274*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				AGGCGTGACTTCTCACTGAAG	0.443													4	81	---	---	---	---	0	0
STXBP1	6812	broad.mit.edu	37	9	130438178	130438178	+	Silent	SNP	T	T	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:130438178T>C	ENST00000373302.3	+	14	1345	c.1206T>C	c.(1204-1206)taT>taC	p.Y402Y	STXBP1_ENST00000373299.1_Silent_p.Y402Y|STXBP1_ENST00000481942.1_3'UTR	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	402					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCAGCACTTATGACAAAATCC	0.512													3	28	---	---	---	---	0	0
ANAPC2	29882	broad.mit.edu	37	9	140070252	140070252	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:140070252A>G	ENST00000323927.2	-	11	1932	c.1928T>C	c.(1927-1929)cTg>cCg	p.L643P	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	643					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CATGGTCACCAGGCCCAGGGT	0.662													2	11	---	---	---	---	0	0
OR5M8	219484	broad.mit.edu	37	11	56258763	56258763	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:56258763C>T	ENST00000327216.2	-	1	108	c.84G>A	c.(82-84)acG>acA	p.T28T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCAGAAACAGCGTGAAGAGGA	0.507													36	91	---	---	---	---	0	0
ABCC9	10060	broad.mit.edu	37	12	22012551	22012551	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr12:22012551G>A	ENST00000261200.4	-	20	2473	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	ABCC9_ENST00000261201.4_Missense_Mutation_p.A825V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A789V|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	825	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGATACAGCGCTCGTGCCAC	0.403													3	80	---	---	---	---	0	0
TRIM9	114088	broad.mit.edu	37	14	51489667	51489667	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr14:51489667A>C	ENST00000298355.3	-	3	2048	c.927T>G	c.(925-927)agT>agG	p.S309R	TRIM9_ENST00000338969.5_Missense_Mutation_p.S309R|TRIM9_ENST00000360392.4_Missense_Mutation_p.S309R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	309					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CAAACTCCACACTGTTCTCCT	0.552													11	42	---	---	---	---	0	0
BNC1	646	broad.mit.edu	37	15	83932046	83932046	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr15:83932046C>G	ENST00000345382.2	-	4	2042	c.1957G>C	c.(1957-1959)Ggc>Cgc	p.G653R	BNC1_ENST00000569704.1_Missense_Mutation_p.G646R|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	653					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGTTCATGGCCACCATCCTCG	0.557													17	54	---	---	---	---	0	0
COG7	91949	broad.mit.edu	37	16	23444927	23444927	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr16:23444927A>G	ENST00000307149.5	-	6	934	c.749T>C	c.(748-750)cTt>cCt	p.L250P		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	250					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GAGTCCGGTAAGCTGCCGGTC	0.507													9	43	---	---	---	---	0	0
ZZEF1	23140	broad.mit.edu	37	17	3979978	3979978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:3979978C>A	ENST00000381638.2	-	21	3311	c.3187G>T	c.(3187-3189)Gaa>Taa	p.E1063*	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1063							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCAGGAGTTCTGTGAGGACG	0.532													9	16	---	---	---	---	0	0
PHF23	79142	broad.mit.edu	37	17	7140001	7140001	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:7140001G>A	ENST00000320316.3	-	4	471	c.245C>T	c.(244-246)tCa>tTa	p.S82L	PHF23_ENST00000571362.1_Intron|PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000454255.2_Missense_Mutation_p.S78L	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	82							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TCGAAGATCTGAGGGGGCCGA	0.572													24	98	---	---	---	---	0	0
ZNF236	7776	broad.mit.edu	37	18	74592173	74592173	+	Silent	SNP	C	C	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr18:74592173C>A	ENST00000253159.8	+	8	1281	c.1083C>A	c.(1081-1083)ctC>ctA	p.L361L	ZNF236_ENST00000320610.9_Silent_p.L363L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	361					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCCAGCAGCTCCTGGAGCTCT	0.627													8	26	---	---	---	---	0	0
CRYBB2	1415	broad.mit.edu	37	22	25627721	25627721	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr22:25627721C>T	ENST00000398215.2	+	6	771	c.600C>T	c.(598-600)gcC>gcT	p.A200A		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	200	C-terminal arm.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						AACGTGGTGCCTTCCACCCCT	0.622													17	50	---	---	---	---	0	0
DDX26B	203522	broad.mit.edu	37	X	134709032	134709032	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chrX:134709032G>A	ENST00000370752.4	+	13	1988	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	552										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCCAGTTGCACAAATGGG	0.413													3	58	---	---	---	---	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869832	151869832	+	Silent	SNP	C	C	T			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chrX:151869832C>T	ENST00000329342.5	+	3	747	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	174	MAGE.						protein binding	p.H174H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCGGCCACGTGTACATCT	0.532													3	60	---	---	---	---	0	0
KCNN3	3782	broad.mit.edu	37	1	154744824	154744824	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:154744824T>C	ENST00000271915.4	-	3	1390	c.1075A>G	c.(1075-1077)Acc>Gcc	p.T359A	KCNN3_ENST00000358505.2_Missense_Mutation_p.T46A|KCNN3_ENST00000361147.4_Missense_Mutation_p.T54A	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CGCTCGTAGGTCATGGCTATC	0.592													9	30	---	---	---	---	0	0
C1ORF220	0	broad.mit.edu	37	1	178514844	178514844	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:178514844C>T	ENST00000367636.4	+	2	568	c.230C>T	c.(229-231)gCc>gTc	p.A77V	C1orf220_ENST00000319387.2_3'UTR|C1orf220_ENST00000521244.1_3'UTR																							GCTCTTTCCGCCACATCACAG	0.527													7	79	---	---	---	---	0	0
KIF26B	55083	broad.mit.edu	37	1	245850131	245850131	+	Silent	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:245850131G>A	ENST00000366518.4	+	9	2807	c.2703G>A	c.(2701-2703)ctG>ctA	p.L901L	KIF26B_ENST00000407071.2_Silent_p.L1282L			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1282					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCCTGGCTGAGCGAGATGA	0.612													12	35	---	---	---	---	0	0
TANC1	85461	broad.mit.edu	37	2	160035657	160035657	+	Silent	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr2:160035657C>G	ENST00000263635.6	+	14	2730	c.2493C>G	c.(2491-2493)gcC>gcG	p.A831A	TANC1_ENST00000454300.1_Silent_p.A725A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	831						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAACACGGCCTTCCTGTGTG	0.537													46	77	---	---	---	---	0	0
CNTN6	27255	broad.mit.edu	37	3	1418725	1418725	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:1418725G>A	ENST00000446702.2	+	17	2759	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	CNTN6_ENST00000539053.1_Missense_Mutation_p.G639E|CNTN6_ENST00000350110.2_Missense_Mutation_p.G711E			Q9UQ52	CNTN6_HUMAN	contactin 6	711	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATGGAGGTGGAGGAAGTCGG	0.398													23	59	---	---	---	---	0	0
VGLL4	9686	broad.mit.edu	37	3	11744471	11744471	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:11744471G>T	ENST00000273038.3	-	2	403	c.38C>A	c.(37-39)tCt>tAt	p.S13Y	VGLL4_ENST00000404339.1_5'UTR	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S13F(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATGCACCAGAGATGCTGCCCT	0.373													3	18	---	---	---	---	0	0
ARPP21	10777	broad.mit.edu	37	3	35763246	35763246	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:35763246C>T	ENST00000187397.4	+	14	1601	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	ARPP21_ENST00000417925.1_Missense_Mutation_p.A348V|ARPP21_ENST00000458225.1_Missense_Mutation_p.A348V|ARPP21_ENST00000444190.1_Missense_Mutation_p.A328V|ARPP21_ENST00000337271.5_Missense_Mutation_p.A328V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	382	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCAAGACGGCGAGTTTTGGG	0.537													6	29	---	---	---	---	0	0
EPHB1	2047	broad.mit.edu	37	3	134967232	134967232	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:134967232G>T	ENST00000398015.3	+	14	2941	c.2571G>T	c.(2569-2571)atG>atT	p.M857I	EPHB1_ENST00000493838.1_Missense_Mutation_p.M418I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	857	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACCAGCTCATGCTGGACTGTT	0.577													37	76	---	---	---	---	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536088	69536088	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:69536088T>A	ENST00000338206.5	-	1	258	c.249A>T	c.(247-249)aaA>aaT	p.K83N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	83					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CCAAATAATTTTTAGTTAAAG	0.308													31	81	---	---	---	---	0	0
DCHS2	54798	broad.mit.edu	37	4	155241971	155241971	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:155241971G>A	ENST00000357232.4	-	14	3214	c.3215C>T	c.(3214-3216)aCc>aTc	p.T1072I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATACACCAGGGTTCCTATGGG	0.428													30	56	---	---	---	---	0	0
GCNT4	51301	broad.mit.edu	37	5	74325284	74325284	+	Silent	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr5:74325284C>T	ENST00000322348.4	-	1	1440	c.579G>A	c.(577-579)gaG>gaA	p.E193E		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	193					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ATTCCACAGCCTCTAATTTGG	0.398													22	62	---	---	---	---	0	0
DST	667	broad.mit.edu	37	6	56426236	56426236	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:56426236T>C	ENST00000370754.5	-	57	14086	c.14087A>G	c.(14086-14088)cAa>cGa	p.Q4696R	DST_ENST00000421834.2_Missense_Mutation_p.Q2430R|DST_ENST00000370769.4_Missense_Mutation_p.Q4518R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q2430R|DST_ENST00000361203.3_Missense_Mutation_p.Q4516R|DST_ENST00000446842.2_Missense_Mutation_p.Q4192R|DST_ENST00000244364.6_Missense_Mutation_p.Q2104R			Q03001	DYST_HUMAN	dystonin	4516					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGAGCCTTTTGCAATTTGGA	0.398													4	46	---	---	---	---	0	0
FNDC1	84624	broad.mit.edu	37	6	159654482	159654482	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:159654482C>T	ENST00000297267.9	+	11	3138	c.2938C>T	c.(2938-2940)Cgt>Tgt	p.R980C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R917C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	980						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTCCCCTGCTCGTCCGCCCGC	0.662													8	24	---	---	---	---	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988611	103988611	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:103988611C>T	ENST00000370005.3	+	4	636	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	139					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.R139W(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCTGCGTAAGCGGCCACTCAT	0.537													36	91	---	---	---	---	0	0
IKZF5	64376	broad.mit.edu	37	10	124755532	124755532	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:124755532A>C	ENST00000368886.5	-	4	614	c.294T>G	c.(292-294)atT>atG	p.I98M	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGATGTGTTCAATAAGCCGGG	0.483													5	80	---	---	---	---	0	0
CKAP5	9793	broad.mit.edu	37	11	46772926	46772926	+	Silent	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:46772926T>C	ENST00000529230.1	-	39	5338	c.5292A>G	c.(5290-5292)ctA>ctG	p.L1764L	CKAP5_ENST00000312055.5_Silent_p.L1704L|CKAP5_ENST00000354558.3_Silent_p.L1704L|CKAP5_ENST00000415402.1_Silent_p.L1764L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1764					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATAAGGTGTGTAGCAGGGTCT	0.428													37	73	---	---	---	---	0	0
GAB2	9846	broad.mit.edu	37	11	77937837	77937837	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:77937837G>T	ENST00000361507.4	-	4	966	c.881C>A	c.(880-882)aCc>aAc	p.T294N	GAB2_ENST00000340149.2_Missense_Mutation_p.T256N	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	294					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGTCTTGAAGGTGTACACATC	0.592													8	79	---	---	---	---	0	0
CEP164	22897	broad.mit.edu	37	11	117241960	117241960	+	Silent	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:117241960T>C	ENST00000278935.3	+	9	1077	c.930T>C	c.(928-930)ctT>ctC	p.L310L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	310					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GACCTGGTCTTCCAGAAAAAG	0.562													51	95	---	---	---	---	0	0
HSPA8	3312	broad.mit.edu	37	11	122929413	122929413	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:122929413A>C	ENST00000534624.1	-	7	1725	c.1449T>G	c.(1447-1449)aaT>aaG	p.N483K	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.N483K|HSPA8_ENST00000526110.1_Missense_Mutation_p.N464K|HSPA8_ENST00000532636.1_Missense_Mutation_p.N483K|HSPA8_ENST00000533540.1_Missense_Mutation_p.N337K|HSPA8_ENST00000534319.1_Missense_Mutation_p.N247K	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	483					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAGTATACCATTGGCATCAA	0.453													25	55	---	---	---	---	0	0
SLC8B1	80024	broad.mit.edu	37	12	113758894	113758894	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr12:113758894A>T	ENST00000552014.1	-	5	844	c.329T>A	c.(328-330)cTg>cAg	p.L110Q	SLC8B1_ENST00000202831.3_Missense_Mutation_p.L110Q|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000546737.1_Missense_Mutation_p.L110Q					solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	110																	AATCAGAAACAGGTAGAGCAG	0.622													20	55	---	---	---	---	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455386	84455386	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr13:84455386C>G	ENST00000377084.2	-	1	1142	c.257G>C	c.(256-258)aGt>aCt	p.S86T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	86						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CATGTGCAAACTAACCGCATT	0.453													29	44	---	---	---	---	0	0
PTPN9	5780	broad.mit.edu	37	15	75816566	75816566	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr15:75816566C>T	ENST00000306726.2	-	3	793	c.281G>A	c.(280-282)gGa>gAa	p.G94E		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	94	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTGAATTTTCCACTGAGGAT	0.388													3	37	---	---	---	---	0	0
MEFV	4210	broad.mit.edu	37	16	3299765	3299765	+	Missense_Mutation	SNP	G	G	A	rs104895155	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:3299765G>A	ENST00000219596.1	-	3	965	c.926C>T	c.(925-927)aCg>aTg	p.T309M	MEFV_ENST00000339854.4_Missense_Mutation_p.T129M|MEFV_ENST00000541159.1_Missense_Mutation_p.T98M|MEFV_ENST00000536379.1_Missense_Mutation_p.T98M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	309					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ACTCGCAGCCGTGTCTGGTGG	0.602													7	38	---	---	---	---	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87451066	87451066	+	Splice_Site	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:87451066C>G	ENST00000268616.4	-	8	1189	c.972G>C	c.(970-972)aaG>aaC	p.K324N		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	324					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ACCGACATACCTTCTCCATGG	0.493											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	140	---	---	---	---	0	0
C17orf53	78995	broad.mit.edu	37	17	42226166	42226166	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr17:42226166C>G	ENST00000319977.4	+	3	1232	c.995C>G	c.(994-996)tCt>tGt	p.S332C	C17orf53_ENST00000245382.6_Missense_Mutation_p.S332C|C17orf53_ENST00000585683.1_Missense_Mutation_p.S332C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	332										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGGACTAGCTCTGGATTATTT	0.517													93	180	---	---	---	---	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495508	6495508	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:6495508C>G	ENST00000264071.2	-	4	1373	c.1002G>C	c.(1000-1002)caG>caC	p.Q334H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.Q334H			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	334					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TGTTCTTGCTCTGCACGCTCA	0.667													154	286	---	---	---	---	0	0
CEACAM7	1087	broad.mit.edu	37	19	42192031	42192031	+	Splice_Site	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:42192031C>T	ENST00000006724.3	-	1	265	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	CEACAM7_ENST00000338196.4_Splice_Site_p.A22T|CEACAM7_ENST00000401731.1_Splice_Site_p.A22T|CEACAM7_ENST00000602225.1_Splice_Site_p.A22T|CEACAM7_ENST00000599715.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	22						anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CTCCCCTCACCTGTGAGCAGG	0.632													21	49	---	---	---	---	0	0
ITSN1	6453	broad.mit.edu	37	21	35237515	35237515	+	Silent	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr21:35237515C>T	ENST00000381318.3	+	32	4239	c.3951C>T	c.(3949-3951)gaC>gaT	p.D1317D	ITSN1_ENST00000399367.3_Silent_p.D1312D|ITSN1_ENST00000381285.4_Silent_p.D1317D|ITSN1_ENST00000437442.2_Silent_p.D1312D|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1317	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGATTGGAGACATCCTGAGCG	0.617													7	26	---	---	---	---	0	0
DMD	1756	broad.mit.edu	37	X	31986568	31986568	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:31986568C>G	ENST00000357033.4	-	45	6708	c.6502G>C	c.(6502-6504)Gaa>Caa	p.E2168Q	DMD_ENST00000378677.2_Missense_Mutation_p.E2164Q|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2168					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAATTATTTCTTCCCCAGTT	0.448													12	26	---	---	---	---	0	0
KCNT2	343450	broad.mit.edu	37	1	196274364	196274364	+	Splice_Site	SNP	C	C	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:196274364C>A	ENST00000367433.5	-	21	2624	c.2523G>T	c.(2521-2523)aaG>aaT	p.K841N	KCNT2_ENST00000294725.9_Splice_Site_p.K865N|KCNT2_ENST00000367431.4_Splice_Site_p.K791N|KCNT2_ENST00000609185.1_Splice_Site_p.K791N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	865						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGGTCTTACCTTTTCCAGTT	0.338													3	33	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228444583	228444583	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:228444583G>A	ENST00000570156.2	+	16	4891	c.4817G>A	c.(4816-4818)tGc>tAc	p.C1606Y	OBSCN_ENST00000359599.6_Missense_Mutation_p.C78Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.C1514Y|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.C1514Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	587	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTACAGCTGCGAGGCGGGG	0.647													15	39	---	---	---	---	0	0
POTEE	445582	broad.mit.edu	37	2	131976139	131976139	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:131976139A>C	ENST00000356920.5	+	1	258	c.164A>C	c.(163-165)aAg>aCg	p.K55T	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.K55T|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	55							ATP binding										TCTGCTATGAAGACACTCAGG	0.607													15	266	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179397722	179397722	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:179397722A>T	ENST00000589042.1	-	358	103844	c.103620T>A	c.(103618-103620)taT>taA	p.Y34540*	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y25600*|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y25667*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y31972*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y32899*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y25475*|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32899							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTACATCATAAGGCATCC	0.438													34	120	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179530153	179530153	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:179530153C>A	ENST00000589042.1	-	165	36218	c.35994G>T	c.(35992-35994)atG>atT	p.M11998I	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10144	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATATTTTCATTTCAGGGA	0.368													16	120	---	---	---	---	0	0
STAT1	6772	broad.mit.edu	37	2	191862718	191862718	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:191862718T>G	ENST00000361099.3	-	9	1036	c.649A>C	c.(649-651)Ata>Cta	p.I217L	STAT1_ENST00000392323.2_Missense_Mutation_p.I219L|STAT1_ENST00000409465.1_Missense_Mutation_p.I217L|STAT1_ENST00000392322.3_Missense_Mutation_p.I217L|STAT1_ENST00000540176.1_Missense_Mutation_p.N186T	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	217					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AACTCTATTATTTTGTGAACT	0.343													15	27	---	---	---	---	0	0
LANCL1	10314	broad.mit.edu	37	2	211336687	211336687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:211336687C>T	ENST00000443314.1	-	2	537	c.195G>A	c.(193-195)tgG>tgA	p.W65*	LANCL1_ENST00000450366.2_Nonsense_Mutation_p.W65*|LANCL1_ENST00000233714.4_Nonsense_Mutation_p.W65*|LANCL1_ENST00000441020.3_Nonsense_Mutation_p.W65*|LANCL1_ENST00000431941.2_Nonsense_Mutation_p.W65*			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	65						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TCATACCTGCCCAGCCAGTGT	0.502													108	395	---	---	---	---	0	0
TNS1	7145	broad.mit.edu	37	2	218712884	218712884	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:218712884G>A	ENST00000171887.4	-	17	2433	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	TNS1_ENST00000430930.1_Missense_Mutation_p.R661C|TNS1_ENST00000419504.1_Missense_Mutation_p.R661C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	661	Gln-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGAGGTGGGCGAGgctgctgc	0.667													3	6	---	---	---	---	0	0
UGT1A7	0	broad.mit.edu	37	2	234591302	234591302	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:234591302C>T	ENST00000373426.3	+	1	719	c.719C>T	c.(718-720)aCg>aTg	p.T240M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACCCCTGTCACGGCATATGAT	0.408													28	514	---	---	---	---	0	0
AGXT	189	broad.mit.edu	37	2	241814527	241814527	+	Splice_Site	SNP	A	A	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:241814527A>C	ENST00000307503.3	+	7	1069	c.682A>C	c.(682-684)Aag>Cag	p.K228Q		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	228					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCTCCCCAGAAAGAAGATGTA	0.587													16	37	---	---	---	---	0	0
TBC1D5	9779	broad.mit.edu	37	3	17413717	17413717	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:17413717G>T	ENST00000253692.7	-	13	2509	c.845C>A	c.(844-846)cCc>cAc	p.P282H	TBC1D5_ENST00000446818.2_Missense_Mutation_p.P282H|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P234H|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P282H|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	282	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAAGGGAATGGGAGTCATCAG	0.328													3	70	---	---	---	---	0	0
IL12A	3592	broad.mit.edu	37	3	159710861	159710861	+	Silent	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:159710861A>G	ENST00000305579.2	+	3	634	c.327A>G	c.(325-327)acA>acG	p.T109T	IL12A_ENST00000480787.1_Intron|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Silent_p.T109T	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	75					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGATATCACAAAAGATAAAA	0.378													4	74	---	---	---	---	0	0
OPA1	4976	broad.mit.edu	37	3	193332788	193332788	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:193332788C>T	ENST00000361510.2	+	2	543	c.309C>T	c.(307-309)ctC>ctT	p.L103L	OPA1_ENST00000361150.2_Silent_p.L103L|OPA1_ENST00000392438.3_Silent_p.L103L|OPA1_ENST00000361715.2_Silent_p.L103L|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361908.3_Silent_p.L103L|OPA1_ENST00000361828.2_Silent_p.L103L	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	103					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTCGCTATCTCATACTAGGAT	0.403													5	60	---	---	---	---	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815648	23815648	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:23815648G>A	ENST00000264867.2	-	8	1577	c.1458C>T	c.(1456-1458)gaC>gaT	p.D486D	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	486					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGAAATCACTGTCCCTCAGTT	0.453													34	102	---	---	---	---	0	0
GABRG1	2565	broad.mit.edu	37	4	46043172	46043172	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:46043172C>A	ENST00000295452.4	-	9	1398	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	411					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.D411N(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTGGCACAATCTTTGCCCTCC	0.438													5	81	---	---	---	---	0	0
IL31RA	133396	broad.mit.edu	37	5	55204129	55204129	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:55204129T>C	ENST00000396834.1	+	13	1830	c.1334T>C	c.(1333-1335)aTt>aCt	p.I445T	IL31RA_ENST00000396836.2_Missense_Mutation_p.I464T|IL31RA_ENST00000359040.5_Missense_Mutation_p.I464T|IL31RA_ENST00000297015.3_Missense_Mutation_p.I322T|IL31RA_ENST00000490985.1_Missense_Mutation_p.I322T|IL31RA_ENST00000354961.4_Missense_Mutation_p.I445T|IL31RA_ENST00000447346.2_Missense_Mutation_p.I464T	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	432	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGGAGAACATTGGCGTGAAG	0.483													5	51	---	---	---	---	0	0
KIF20A	10112	broad.mit.edu	37	5	137519025	137519025	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:137519025G>T	ENST00000394894.3	+	8	1226	c.1000G>T	c.(1000-1002)Gat>Tat	p.D334Y	KIF20A_ENST00000508792.1_Missense_Mutation_p.D316Y	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	334	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTATGCGAGGATCAAAATGG	0.488													14	53	---	---	---	---	0	0
DSP	1832	broad.mit.edu	37	6	7575021	7575021	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:7575021G>A	ENST00000379802.3	+	17	2770	c.2429G>A	c.(2428-2430)gGa>gAa	p.G810E	DSP_ENST00000418664.2_Missense_Mutation_p.G810E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	810	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.G810E(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCGCTGTGGACTGAAGGTA	0.438													9	37	---	---	---	---	0	0
TBC1D7	51256	broad.mit.edu	37	6	13321294	13321294	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:13321294T>C	ENST00000607658.1	-	3	296	c.146A>G	c.(145-147)aAg>aGg	p.K49R	TBC1D7_ENST00000379300.3_Missense_Mutation_p.K76R|TBC1D7_ENST00000356436.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.K49R|TBC1D7_ENST00000343141.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000607532.1_5'UTR			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	76					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CATCATCACCTTGGCATGGGA	0.463													17	257	---	---	---	---	0	0
ZNF311	282890	broad.mit.edu	37	6	28963131	28963131	+	Missense_Mutation	SNP	T	T	C	rs71732072		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:28963131T>C	ENST00000377179.3	-	7	2160	c.1648A>G	c.(1648-1650)Act>Gct	p.T550A	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TTCTCTCCAGTGTGAATTCTT	0.448													4	72	---	---	---	---	0	0
OR2J2	26707	broad.mit.edu	37	6	29142063	29142063	+	Silent	SNP	T	T	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:29142063T>A	ENST00000377167.2	+	1	753	c.651T>A	c.(649-651)acT>acA	p.T217T		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCATTCTCACTACCTATGGTG	0.468													6	70	---	---	---	---	0	0
GPR110	266977	broad.mit.edu	37	6	46991864	46991864	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:46991864A>G	ENST00000371253.2	-	5	582	c.367T>C	c.(367-369)Tac>Cac	p.Y123H	GPR110_ENST00000371243.2_Missense_Mutation_p.Y123H|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTGTGAAGGTAGCAGTTCTGG	0.493													21	33	---	---	---	---	0	0
FAM83B	222584	broad.mit.edu	37	6	54805205	54805205	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:54805205A>T	ENST00000306858.7	+	5	1552	c.1436A>T	c.(1435-1437)cAa>cTa	p.Q479L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	479										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTTTGCAACAACGAATGCCA	0.403													4	111	---	---	---	---	0	0
MDN1	23195	broad.mit.edu	37	6	90363906	90363906	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:90363906T>C	ENST00000369393.3	-	93	15753	c.15638A>G	c.(15637-15639)aAg>aGg	p.K5213R	MDN1_ENST00000428876.1_Missense_Mutation_p.K5213R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5213					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGTGCCCGACTTGATTTCCTC	0.522													46	103	---	---	---	---	0	0
SCAF8	22828	broad.mit.edu	37	6	155131226	155131226	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:155131226C>G	ENST00000367178.3	+	12	1880	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*	SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S435*|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S501*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	435	Arg-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CGCTCCCGCTCAAGAGAAAGA	0.423													8	89	---	---	---	---	0	0
SNX13	23161	broad.mit.edu	37	7	17885263	17885263	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:17885263G>A	ENST00000409389.1	-	12	1292	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	SNX13_ENST00000428135.3_Silent_p.L374L			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	374	RGS.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATGCTGTCCAGGGGGACTGTG	0.323													4	12	---	---	---	---	0	0
PCLO	27445	broad.mit.edu	37	7	82545752	82545752	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:82545752C>T	ENST00000333891.9	-	7	11887	c.11550G>A	c.(11548-11550)caG>caA	p.Q3850Q	PCLO_ENST00000423517.2_Silent_p.Q3850Q|PCLO_ENST00000437081.1_Silent_p.Q570Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAATGCCATGCTGACTTTCTA	0.473													14	293	---	---	---	---	0	0
ZNF282	8427	broad.mit.edu	37	7	148921395	148921395	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:148921395C>T	ENST00000262085.3	+	8	1777	c.1672C>T	c.(1672-1674)Cac>Tac	p.H558Y	ZNF282_ENST00000479907.1_3'UTR	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	558					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTTCAACTGCCACTCGGGCCT	0.632													6	29	---	---	---	---	0	0
TMEM176A	55365	broad.mit.edu	37	7	150500789	150500789	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:150500789T>C	ENST00000484928.1	+	5	1005	c.424T>C	c.(424-426)Tat>Cat	p.Y142H	TMEM176A_ENST00000004103.3_Missense_Mutation_p.Y142H|TMEM176A_ENST00000461345.1_Missense_Mutation_p.Y83H			Q96HP8	T176A_HUMAN	transmembrane protein 176A	142						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGATTTCCGATATGGCTACTC	0.552													8	130	---	---	---	---	0	0
POLR3D	661	broad.mit.edu	37	8	22105704	22105704	+	Silent	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:22105704A>G	ENST00000397802.4	+	4	614	c.399A>G	c.(397-399)ggA>ggG	p.G133G	POLR3D_ENST00000306433.4_Silent_p.G133G			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	133					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CAGACATGGGACCTTCTCATA	0.468													7	34	---	---	---	---	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775621	77775621	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:77775621C>G	ENST00000521891.2	+	11	10119	c.9671C>G	c.(9670-9672)tCt>tGt	p.S3224C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3198C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3179C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3175C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3175						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAATCTCATCTGCTCTTTCA	0.413										HNSCC(33;0.089)			3	88	---	---	---	---	0	0
CHRAC1	54108	broad.mit.edu	37	8	141525311	141525311	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:141525311G>C	ENST00000220913.5	+	3	563	c.361G>C	c.(361-363)Gat>Cat	p.D121H	CHRAC1_ENST00000519533.1_3'UTR	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	121					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAATGACAATGATAATGAAAG	0.383													7	67	---	---	---	---	0	0
TMC1	117531	broad.mit.edu	37	9	75445550	75445550	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:75445550G>C	ENST00000297784.5	+	23	2752	c.2212G>C	c.(2212-2214)Gct>Cct	p.A738P	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.A738P|TMC1_ENST00000340019.3_Missense_Mutation_p.A738P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	738					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTGTAGCAAGCTTTGGAGAA	0.303													6	15	---	---	---	---	0	0
TMC1	117531	broad.mit.edu	37	9	75445552	75445552	+	Silent	SNP	T	T	G	rs111387206		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:75445552T>G	ENST00000297784.5	+	23	2754	c.2214T>G	c.(2212-2214)gcT>gcG	p.A738A	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.A738A|TMC1_ENST00000340019.3_Silent_p.A738A	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	738					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTAGCAAGCTTTGGAGAACA	0.299													6	15	---	---	---	---	0	0
ARPC5L	81873	broad.mit.edu	37	9	127637421	127637421	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:127637421G>C	ENST00000353214.2	+	5	1642	c.390G>C	c.(388-390)tgG>tgC	p.W130C	ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.W130C			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	130					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|lung(1)	3						TACTCCAGTGGCACGAAAAGG	0.507													8	48	---	---	---	---	0	0
PCDH15	65217	broad.mit.edu	37	10	55566503	55566503	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:55566503G>T	ENST00000373965.2	-	36	5285	c.4891C>A	c.(4891-4893)Cca>Aca	p.P1631T	PCDH15_ENST00000414778.1_Missense_Mutation_p.P1628T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCCTTAGTGGCTTCACCGCT	0.448										HNSCC(58;0.16)			87	196	---	---	---	---	0	0
DDIT4	54541	broad.mit.edu	37	10	74034783	74034783	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:74034783T>A	ENST00000307365.3	+	3	737	c.536T>A	c.(535-537)cTg>cAg	p.L179Q	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	179					apoptosis					cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						ACCCTCGTGCTGCGCCTGGAC	0.657											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	31	---	---	---	---	0	0
MRVI1	10335	broad.mit.edu	37	11	10647847	10647847	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:10647847G>A	ENST00000547195.1	-	8	1261	c.761C>T	c.(760-762)cCg>cTg	p.P254L	MRVI1_ENST00000424001.1_Missense_Mutation_p.P30L|MRVI1_ENST00000527509.2_Missense_Mutation_p.P254L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P254L|MRVI1_ENST00000534266.2_Missense_Mutation_p.P30L|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000436272.1_Missense_Mutation_p.P318L|MRVI1_ENST00000545852.1_Missense_Mutation_p.P30L|MRVI1_ENST00000558540.1_Missense_Mutation_p.P30L|MRVI1_ENST00000423302.2_Missense_Mutation_p.P345L|MRVI1_ENST00000531107.1_Missense_Mutation_p.P337L|MRVI1_ENST00000421747.1_Missense_Mutation_p.P336L	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	318					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGACTTCTCGGCAGAGGGCT	0.672													7	12	---	---	---	---	0	0
CACNA1C	775	broad.mit.edu	37	12	2764406	2764406	+	Splice_Site	SNP	T	T	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:2764406T>G	ENST00000399655.1	+	34	4497		c.e34+2		CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCTCTTCAGGTGGGTCCCTGA	0.537													2	13	---	---	---	---	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43896163	43896163	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:43896163T>C	ENST00000389420.3	-	4	658	c.659A>G	c.(658-660)aAc>aGc	p.N220S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N220S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	220						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCATTCATGTTGCTGTAGGT	0.323													6	60	---	---	---	---	0	0
C1QL4	338761	broad.mit.edu	37	12	49729849	49729849	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:49729849C>T	ENST00000334221.3	-	1	1122	c.412G>A	c.(412-414)Gcc>Acc	p.A138T		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	138	C1q.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GCCTCGTAGGCGTTGCCCACG	0.652													10	14	---	---	---	---	0	0
EEF1DP3	0	broad.mit.edu	37	13	32527092	32527092	+	RNA	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr13:32527092G>A	ENST00000428783.1	+	0	792																											CCCCGGCCAAGAAGCTAGCCA	0.617													4	87	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38061243	38061243	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:38061243T>A	ENST00000250448.2	-	2	807	c.746A>T	c.(745-747)gAc>gTc	p.D249V	FOXA1_ENST00000540786.1_Missense_Mutation_p.D216V|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	249					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTGCCGGAGTCCGGGTGCAG	0.667													13	21	---	---	---	---	0	0
YLPM1	56252	broad.mit.edu	37	14	75264385	75264385	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:75264385C>T	ENST00000325680.7	+	5	2509	c.2385C>T	c.(2383-2385)ccC>ccT	p.P795P	YLPM1_ENST00000238571.3_Silent_p.P600P|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGCCAAGACCCAGATATGAAG	0.512													3	8	---	---	---	---	0	0
TRPM1	4308	broad.mit.edu	37	15	31359360	31359360	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr15:31359360T>C	ENST00000542188.1	-	5	888	c.575A>G	c.(574-576)aAa>aGa	p.K192R	TRPM1_ENST00000256552.6_Missense_Mutation_p.K175R|TRPM1_ENST00000397795.2_Missense_Mutation_p.K153R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	153					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGTGGTCTTTCAAGGCATC	0.478													3	86	---	---	---	---	0	0
B2M	567	broad.mit.edu	37	15	45003696	45003696	+	Translation_Start_Site	SNP	A	A	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr15:45003696A>T	ENST00000558401.1	+	0	22					NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ATATAAGTGGAGGCGTCGCGC	0.612													4	30	---	---	---	---	0	0
CAMTA2	23125	broad.mit.edu	37	17	4884982	4884982	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:4884982T>G	ENST00000361571.5	-	6	964	c.553A>C	c.(553-555)Aag>Cag	p.K185Q	CAMTA2_ENST00000381311.5_Missense_Mutation_p.K188Q|CAMTA2_ENST00000572543.1_Missense_Mutation_p.K191Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.K209Q|CAMTA2_ENST00000348066.3_Missense_Mutation_p.K186Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.K186Q	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	186					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CACATGGGCTTCAGCTGTCCC	0.602													3	70	---	---	---	---	0	0
NEURL4	84461	broad.mit.edu	37	17	7229026	7229026	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:7229026C>T	ENST00000399464.2	-	7	1315	c.1300G>A	c.(1300-1302)Gac>Aac	p.D434N	NEURL4_ENST00000570460.1_Missense_Mutation_p.D412N|NEURL4_ENST00000315614.7_Missense_Mutation_p.D434N	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAATGTGGTCACCCTCCTAA	0.532													12	53	---	---	---	---	0	0
CDK12	51755	broad.mit.edu	37	17	37627877	37627877	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:37627877C>T	ENST00000447079.4	+	2	1825	c.1792C>T	c.(1792-1794)Cag>Tag	p.Q598*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q598*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	598					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGTGTCCTCTCAGGCAAATTC	0.488			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			60	136	---	---	---	---	0	0
STAT3	6774	broad.mit.edu	37	17	40477031	40477031	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:40477031T>C	ENST00000264657.5	-	16	1726	c.1414A>G	c.(1414-1416)Aat>Gat	p.N472D	STAT3_ENST00000404395.3_Missense_Mutation_p.N472D|STAT3_ENST00000585517.1_Missense_Mutation_p.N472D|STAT3_ENST00000389272.3_Missense_Mutation_p.N374D|STAT3_ENST00000588969.1_Missense_Mutation_p.N472D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	472					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCCCAGGCATTTGGCATCTGA	0.577									Hyperimmunoglobulin E Recurrent Infection Syndrome				5	136	---	---	---	---	0	0
SECTM1	6398	broad.mit.edu	37	17	80282491	80282491	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:80282491T>A	ENST00000269389.3	-	3	720	c.370A>T	c.(370-372)Aga>Tga	p.R124*	SECTM1_ENST00000580437.1_Nonsense_Mutation_p.R124*	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	124					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CTGTTATTTCTCTGGTGTCCC	0.642													3	66	---	---	---	---	0	0
C18orf8	29919	broad.mit.edu	37	18	21098913	21098913	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr18:21098913G>T	ENST00000269221.3	+	8	823	c.713G>T	c.(712-714)gGa>gTa	p.G238V	C18orf8_ENST00000590868.1_Missense_Mutation_p.G190V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	238								p.G238V(1)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACAGCACAGGAGCGGAGGTG	0.438													14	46	---	---	---	---	0	0
NCAN	1463	broad.mit.edu	37	19	19338463	19338463	+	Silent	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:19338463T>C	ENST00000252575.6	+	8	2133	c.2034T>C	c.(2032-2034)taT>taC	p.Y678Y	NCAN_ENST00000538881.1_Silent_p.Y129Y	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCAAGGTGTATTCCCTGCCTC	0.617													6	200	---	---	---	---	0	0
MAG	4099	broad.mit.edu	37	19	35786682	35786682	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:35786682G>A	ENST00000361922.4	+	4	363	c.213G>A	c.(211-213)ccG>ccA	p.P71P	MAG_ENST00000537831.2_Silent_p.P46P|MAG_ENST00000597035.1_Intron|MAG_ENST00000392213.3_Silent_p.P71P	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	71	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.P71P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACTACCCCCCGGTGGTCTTCA	0.637													10	203	---	---	---	---	0	0
ZNF154	7710	broad.mit.edu	37	19	58213660	58213660	+	Silent	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:58213660A>G	ENST00000512439.2	-	3	853	c.657T>C	c.(655-657)tgT>tgC	p.C219C	ZNF154_ENST00000426889.1_Silent_p.C219C|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	219						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACATTCATCACATTCATGAG	0.433													34	73	---	---	---	---	0	0
FGD1	2245	broad.mit.edu	37	X	54481902	54481902	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:54481902C>T	ENST00000375135.3	-	12	2727	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	665	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R665L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCGAGGGAGCGCTGCTTTCC	0.557													6	16	---	---	---	---	0	0
CT45A5	441521	broad.mit.edu	37	X	134948025	134948025	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:134948025G>T	ENST00000463085.2	-	3	389	c.300C>A	c.(298-300)agC>agA	p.S100R	CT45A5_ENST00000491480.1_Missense_Mutation_p.S100R|CT45A5_ENST00000370724.3_Missense_Mutation_p.S100R|CT45A4_ENST00000420087.2_Intron			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5											endometrium(1)|large_intestine(2)|lung(6)	9						CAGAGAAATTGCTGGTAACAT	0.423													76	53	---	---	---	---	0	0
LHX8	431707	broad.mit.edu	37	1	75609601	75609601	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:75609601G>T	ENST00000294638.5	+	7	1346	c.682G>T	c.(682-684)Gct>Tct	p.A228S	LHX8_ENST00000356261.3_Missense_Mutation_p.A218S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AGCAAAAAGAGCTCGGACCAG	0.398													7	37	---	---	---	---	0	0
GATAD2B	57459	broad.mit.edu	37	1	153788813	153788813	+	Silent	SNP	G	G	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:153788813G>C	ENST00000368655.4	-	7	1395	c.1152C>G	c.(1150-1152)gcC>gcG	p.A384A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	384	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTCGCTATTGGCTGCACTAG	0.463													7	83	---	---	---	---	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289578	160289578	+	Silent	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr2:160289578A>G	ENST00000392783.2	-	9	2085	c.1590T>C	c.(1588-1590)ccT>ccC	p.P530P	BAZ2B_ENST00000392782.1_Silent_p.P528P|BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	530			P -> L (in dbSNP:rs3732287).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGAGGAAAAAGGGGTGCTAC	0.443													3	111	---	---	---	---	0	0
SLC11A1	6556	broad.mit.edu	37	2	219249918	219249918	+	Silent	SNP	C	C	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr2:219249918C>A	ENST00000233202.6	+	4	662	c.322C>A	c.(322-324)Cga>Aga	p.R108R	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	108					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCTGCCAGCGACTGGCTGC	0.632													3	126	---	---	---	---	0	0
SLC30A9	10463	broad.mit.edu	37	4	42072553	42072553	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:42072553G>A	ENST00000264451.7	+	15	1443	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAATCCACTGTATGACAGCC	0.398													23	110	---	---	---	---	0	0
PCDHB2	0	broad.mit.edu	37	5	140476458	140476458	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr5:140476458C>T	ENST00000194155.4	+	1	2232	c.2084C>T	c.(2083-2085)gCg>gTg	p.A695V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		695					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTGGTGGCGTTGGCCTCG	0.697													21	212	---	---	---	---	0	0
RP11-510H23.1	0	broad.mit.edu	37	6	125233353	125233353	+	RNA	SNP	T	T	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr6:125233353T>A	ENST00000439075.1	-	0	1392					NR_026876.1																						TGCCAGACACTCTATATTTGC	0.363													8	32	---	---	---	---	0	0
ELMO1	9844	broad.mit.edu	37	7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	rs146510671		TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502													4	148	---	---	---	---	0	0
ZNF395	55893	broad.mit.edu	37	8	28206326	28206326	+	Silent	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr8:28206326C>T	ENST00000344423.5	-	10	1583	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	ZNF395_ENST00000523095.1_Silent_p.K484K|ZNF395_ENST00000523202.1_Silent_p.K484K	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	484					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGCGGCACTTCTTAGCCTCCC	0.627													6	74	---	---	---	---	0	0
CDC14B	8555	broad.mit.edu	37	9	99296346	99296346	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:99296346G>C	ENST00000375241.1	-	9	1260	c.809C>G	c.(808-810)gCc>gGc	p.A270G	CDC14B_ENST00000375236.1_Missense_Mutation_p.A270G|CDC14B_ENST00000265659.2_Missense_Mutation_p.A270G|CDC14B_ENST00000375242.3_Missense_Mutation_p.A233G|CDC14B_ENST00000463569.1_Missense_Mutation_p.A270G|CDC14B_ENST00000375240.3_Missense_Mutation_p.A270G	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	270	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AAAGCGTTTGGCATCATACAT	0.388													5	35	---	---	---	---	0	0
PTPN3	0	broad.mit.edu	37	9	112185091	112185091	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:112185091A>C	ENST00000412145.1	-	8	3203	c.650T>G	c.(649-651)aTg>aGg	p.M217R	PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Missense_Mutation_p.M348R|PTPN3_ENST00000262539.3_Intron	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	348	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTTCCACACCATCCCGCCAAT	0.463													26	194	---	---	---	---	0	0
C9orf96	169436	broad.mit.edu	37	9	136260870	136260870	+	Silent	SNP	C	C	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:136260870C>G	ENST00000371957.3	+	9	953	c.846C>G	c.(844-846)ccC>ccG	p.P282P	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	282	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGATCGACCCCTCGGATCGAA	0.493													21	51	---	---	---	---	0	0
GPR158	57512	broad.mit.edu	37	10	25888046	25888046	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr10:25888046C>T	ENST00000376351.3	+	11	3850	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1164						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCCAGCAACCTTTAACATCA	0.433													5	41	---	---	---	---	0	0
MYO3A	53904	broad.mit.edu	37	10	26462763	26462763	+	Silent	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr10:26462763A>G	ENST00000265944.5	+	30	3736	c.3570A>G	c.(3568-3570)aaA>aaG	p.K1190K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1190					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGACTCCAAAAAAAATGAATA	0.408													8	39	---	---	---	---	0	0
PDE3B	5140	broad.mit.edu	37	11	14808089	14808089	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:14808089C>T	ENST00000282096.4	+	3	1489	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	379					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCATTTCCTCTCTACGGAGT	0.448													25	117	---	---	---	---	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375265	65375265	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:65375265G>A	ENST00000309100.3	-	4	1577	c.1092C>T	c.(1090-1092)caC>caT	p.H364H	MAP3K11_ENST00000530153.1_Silent_p.H107H	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	364	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGGGCCTGCGGTGGGGGTCCT	0.652													9	49	---	---	---	---	0	0
PICALM	8301	broad.mit.edu	37	11	85725995	85725995	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:85725995A>G	ENST00000526033.1	-	5	780	c.464T>C	c.(463-465)gTt>gCt	p.V155A	PICALM_ENST00000393346.3_Missense_Mutation_p.V155A|PICALM_ENST00000532317.1_Missense_Mutation_p.V155A|PICALM_ENST00000356360.5_Missense_Mutation_p.V155A|PICALM_ENST00000528398.1_Missense_Mutation_p.V104A	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	155					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TGTTCTCATAACTCCATCAGC	0.333			T	"""MLLT10, MLL"""	"""TALL, AML, """								3	13	---	---	---	---	0	0
RBL2	5934	broad.mit.edu	37	16	53504028	53504028	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr16:53504028A>G	ENST00000262133.6	+	15	2313	c.2176A>G	c.(2176-2178)Act>Gct	p.T726A	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	726	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCTGGACAGACTTTGGTCAC	0.547													10	42	---	---	---	---	0	0
KRTAP19-6	337973	broad.mit.edu	37	21	31914086	31914086	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr21:31914086A>T	ENST00000334046.5	-	1	97	c.67T>A	c.(67-69)Tat>Aat	p.Y23N		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	23						intermediate filament				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						CCACAGCCATAGCCCAGACCA	0.522													11	160	---	---	---	---	0	0
MTOR	2475	broad.mit.edu	37	1	11210249	11210249	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:11210249T>C	ENST00000361445.4	-	31	4580	c.4504A>G	c.(4504-4506)Acc>Gcc	p.T1502A		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1502	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTAACCAGGGTCCACTTTTCA	0.478													5	21	---	---	---	---	0	0
MRPS25	64432	broad.mit.edu	37	3	15106611	15106611	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr3:15106611T>C	ENST00000253686.2	-	1	231	c.91A>G	c.(91-93)Aca>Gca	p.T31A	MRPS25_ENST00000449354.2_Missense_Mutation_p.T31A|MRPS25_ENST00000444840.2_Missense_Mutation_p.T31A	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	31					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						TAATTCACTGTCATGACCTTC	0.647													6	10	---	---	---	---	0	0
ZBBX	79740	broad.mit.edu	37	3	166960306	166960306	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr3:166960306C>A	ENST00000392766.2	-	20	2603	c.2263G>T	c.(2263-2265)Gtt>Ttt	p.V755F	ZBBX_ENST00000392764.1_Missense_Mutation_p.V726F|ZBBX_ENST00000307529.5_Missense_Mutation_p.V794F|ZBBX_ENST00000455345.2_Missense_Mutation_p.V794F|ZBBX_ENST00000392767.2_Missense_Mutation_p.V755F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	755						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTCCTCAACTCCACAGGGA	0.358													16	25	---	---	---	---	0	0
ASIC5	51802	broad.mit.edu	37	4	156784879	156784879	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr4:156784879A>C	ENST00000537611.2	-	2	114	c.68T>G	c.(67-69)cTt>cGt	p.L23R	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	23						integral to membrane|plasma membrane											TTTCTTTGAAAGGCAAAGCTT	0.358													30	38	---	---	---	---	0	0
PDZD2	23037	broad.mit.edu	37	5	32089965	32089965	+	Silent	SNP	A	A	G			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr5:32089965A>G	ENST00000438447.1	+	20	6799	c.6411A>G	c.(6409-6411)gcA>gcG	p.A2137A	PDZD2_ENST00000282493.3_Silent_p.A2137A			O15018	PDZD2_HUMAN	PDZ domain containing 2	2137					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCAGGTCGCAGAATCATCCA	0.542													38	57	---	---	---	---	0	0
SHPRH	257218	broad.mit.edu	37	6	146264543	146264543	+	Silent	SNP	G	G	A			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr6:146264543G>A	ENST00000367503.3	-	9	2372	c.1974C>T	c.(1972-1974)cgC>cgT	p.R658R	SHPRH_ENST00000438092.2_Silent_p.R658R|SHPRH_ENST00000275233.7_Silent_p.R658R|SHPRH_ENST00000367505.2_Silent_p.R658R	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	658					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TACACTCAAAGCGGTAATCAG	0.418													41	65	---	---	---	---	0	0
GTF2E2	2961	broad.mit.edu	37	8	30436473	30436473	+	Silent	SNP	G	G	A			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr8:30436473G>A	ENST00000355904.4	-	8	1123	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	281					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TAATCCTTCAGCACTCCAGCC	0.433													33	7	---	---	---	---	0	0
TAF1L	138474	broad.mit.edu	37	9	32632097	32632097	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr9:32632097C>T	ENST00000242310.4	-	1	3570	c.3481G>A	c.(3481-3483)Gga>Aga	p.G1161R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1161					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGATTGTTTCCTGATGCTGCT	0.493													10	84	---	---	---	---	0	0
POLE	5426	broad.mit.edu	37	12	133226399	133226399	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr12:133226399A>G	ENST00000320574.5	-	30	3702	c.3659T>C	c.(3658-3660)cTg>cCg	p.L1220P	POLE_ENST00000535270.1_Missense_Mutation_p.L1193P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1220					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGGTGAGGCAGCTTTACGAG	0.602								DNA polymerases (catalytic subunits)					8	61	---	---	---	---	0	0
ALPK3	57538	broad.mit.edu	37	15	85403130	85403130	+	Silent	SNP	T	T	G			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr15:85403130T>G	ENST00000258888.5	+	8	4862	c.4695T>G	c.(4693-4695)ccT>ccG	p.P1565P		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1565					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTCAGCCCTGAGGGTGAGT	0.652													50	62	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7578509	7578509	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr17:7578509A>C	ENST00000420246.2	-	5	553	c.421T>G	c.(421-423)Tgc>Ggc	p.C141G	TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000269305.4_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCACAGGGCAGGTCTTGGCC	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	16	---	---	---	---	0	0
PI4KA	5297	broad.mit.edu	37	22	21173958	21173958	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr22:21173958T>C	ENST00000255882.6	-	6	846	c.760A>G	c.(760-762)Aaa>Gaa	p.K254E	PI4KA_ENST00000572273.1_Missense_Mutation_p.K196E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	196					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGCTGGTTTTCCTCTTCAGG	0.542													53	55	---	---	---	---	0	0
APOL5	80831	broad.mit.edu	37	22	36123054	36123054	+	Silent	SNP	C	C	T			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr22:36123054C>T	ENST00000249044.2	+	3	939	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	313					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TCCTGCAGAGCTGGAAGCACC	0.582													32	57	---	---	---	---	0	0
VPS13D	55187	broad.mit.edu	37	1	12374350	12374350	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:12374350A>C	ENST00000358136.3	+	30	7244	c.7114A>C	c.(7114-7116)Acc>Ccc	p.T2372P	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2372P	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2372					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGCAGCACCACCCAAGGGTC	0.502													3	12	---	---	---	---	0	0
PADI4	23569	broad.mit.edu	37	1	17668541	17668541	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:17668541G>C	ENST00000375448.4	+	7	782	c.756G>C	c.(754-756)gaG>gaC	p.E252D	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	252					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCTACGTGGAGGCCCTCGCTT	0.602													25	39	---	---	---	---	0	0
MRTO4	51154	broad.mit.edu	37	1	19584333	19584333	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:19584333C>G	ENST00000330263.4	+	6	645	c.348C>G	c.(346-348)ttC>ttG	p.F116L		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	116					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGGTGGTTCACGAAATACA	0.592													25	55	---	---	---	---	0	0
WASF2	10163	broad.mit.edu	37	1	27744831	27744831	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:27744831C>G	ENST00000430629.2	-	4	573	c.358G>C	c.(358-360)Gtc>Ctc	p.V120L	WASF2_ENST00000536657.1_Missense_Mutation_p.V120L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	120					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GTTTCTAAGACAGGCACTGGG	0.458													16	27	---	---	---	---	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877441	39877441	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:39877441G>T	ENST00000530275.1	+	1	1291	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	366										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGGATGCAGAAAATTTACT	0.393													10	17	---	---	---	---	0	0
DMBX1	127343	broad.mit.edu	37	1	46976632	46976632	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:46976632A>C	ENST00000371956.4	+	3	389	c.374A>C	c.(373-375)aAg>aCg	p.K125T	DMBX1_ENST00000360032.3_Missense_Mutation_p.K120T	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	125	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CGCCGGGCCAAGTTCCGGAAG	0.627													8	25	---	---	---	---	0	0
FOXD2	2306	broad.mit.edu	37	1	47904210	47904210	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:47904210C>G	ENST00000334793.5	+	1	2522	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	135					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GTACATCGCGCTCATCACCAT	0.716													12	11	---	---	---	---	0	0
MYSM1	114803	broad.mit.edu	37	1	59147849	59147849	+	Silent	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:59147849A>T	ENST00000472487.1	-	8	906	c.867T>A	c.(865-867)ctT>ctA	p.L289L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	289					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CTGAGCTTGAAAGTGTTTCAT	0.348													30	21	---	---	---	---	0	0
DPH5	51611	broad.mit.edu	37	1	101487277	101487277	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:101487277T>C	ENST00000370109.3	-	3	292	c.180A>G	c.(178-180)gaA>gaG	p.E60E	DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.E60E|DPH5_ENST00000488176.1_Silent_p.E60E	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	60					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTTGTTCCACTTCTTCTCTAT	0.368													11	16	---	---	---	---	0	0
PSRC1	84722	broad.mit.edu	37	1	109824258	109824258	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:109824258G>A	ENST00000438534.2	-	4	640	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	PSRC1_ENST00000369909.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369903.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369904.3_Missense_Mutation_p.P168S|PSRC1_ENST00000409138.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369907.3_Missense_Mutation_p.P168S|PSRC1_ENST00000409267.1_Missense_Mutation_p.P168S	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	168	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		ATGTTGGAGGGCCTCTTTCCA	0.567													19	35	---	---	---	---	0	0
PEAR1	375033	broad.mit.edu	37	1	156877420	156877420	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:156877420C>T	ENST00000338302.3	+	8	888	c.663C>T	c.(661-663)tcC>tcT	p.S221S	PEAR1_ENST00000292357.7_Silent_p.S221S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	221						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTCCTGTTCCCAGGGCACTT	0.577													118	122	---	---	---	---	0	0
F5	2153	broad.mit.edu	37	1	169483633	169483633	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:169483633G>A	ENST00000367796.3	-	25	6809	c.6608C>T	c.(6607-6609)tCc>tTc	p.S2203F	F5_ENST00000367797.3_Missense_Mutation_p.S2198F			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2198	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GATAAACCTGGAAATGATTGG	0.348													10	22	---	---	---	---	0	0
GPR137B	7107	broad.mit.edu	37	1	236306076	236306076	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:236306076T>G	ENST00000366592.3	+	1	245	c.154T>G	c.(154-156)Ttc>Gtc	p.F52V	GPR137B_ENST00000366591.4_Missense_Mutation_p.F52V	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	52						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CTACACCGTGTTCTACGCGCT	0.652													9	30	---	---	---	---	0	0
RYR2	6262	broad.mit.edu	37	1	237756847	237756847	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:237756847T>C	ENST00000366574.2	+	33	4664	c.4347T>C	c.(4345-4347)gaT>gaC	p.D1449D	RYR2_ENST00000360064.6_Silent_p.D1447D|RYR2_ENST00000542537.1_Silent_p.D1433D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1449	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACATCAGATTTCCATCAGT	0.418													4	61	---	---	---	---	0	0
TTC7A	57217	broad.mit.edu	37	2	47256512	47256512	+	Silent	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:47256512T>A	ENST00000319190.5	+	15	2159	c.1791T>A	c.(1789-1791)ccT>ccA	p.P597P	TTC7A_ENST00000409245.1_Silent_p.P563P|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Silent_p.P597P|TTC7A_ENST00000263737.6_Silent_p.P243P	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	597							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCGAGCACCCTGAGAACTTCA	0.622													24	47	---	---	---	---	0	0
HK2	3099	broad.mit.edu	37	2	75081432	75081432	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:75081432C>A	ENST00000290573.2	+	2	676	c.76C>A	c.(76-78)Ctc>Atc	p.L26I	HK2_ENST00000409174.1_5'UTR	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	26	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGACCAGTATCTCTACCACAT	0.493													65	119	---	---	---	---	0	0
REG1P	0	broad.mit.edu	37	2	79365096	79365096	+	RNA	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:79365096G>A	ENST00000444841.1	-	0	162																											ATCTCACCTTGGCTCAGAGAC	0.493													4	10	---	---	---	---	0	0
REG1P	0	broad.mit.edu	37	2	79365097	79365097	+	RNA	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:79365097G>T	ENST00000444841.1	-	0	161																											TCTCACCTTGGCTCAGAGACA	0.498													4	10	---	---	---	---	0	0
RNF149	284996	broad.mit.edu	37	2	101893716	101893716	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:101893716C>A	ENST00000295317.3	-	7	1294	c.1187G>T	c.(1186-1188)gGa>gTa	p.G396V		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	396						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GATGGGTCCTCCATGCCGAGA	0.458													6	5	---	---	---	---	0	0
KIF5C	3800	broad.mit.edu	37	2	149806898	149806898	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:149806898G>A	ENST00000435030.1	+	10	1258	c.890G>A	c.(889-891)aGa>aAa	p.R297K	KIF5C_ENST00000397413.1_Missense_Mutation_p.R65K|KIF5C_ENST00000414838.2_Missense_Mutation_p.R202K|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	297	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGGAACTGCAGAACCACCATC	0.468													5	21	---	---	---	---	0	0
CACNB4	785	broad.mit.edu	37	2	152830186	152830186	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:152830186C>A	ENST00000360283.6	-	1	299	c.42G>T	c.(40-42)gaG>gaT	p.E14D	CACNB4_ENST00000534999.1_Missense_Mutation_p.E14D|CACNB4_ENST00000539935.1_Intron|CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000397327.2_De_novo_Start_InFrame|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000475848.1_5'UTR			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	0					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TACTTACAGCCTCCGAGTCTT	0.468													5	11	---	---	---	---	0	0
SPEG	10290	broad.mit.edu	37	2	220333704	220333704	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:220333704A>G	ENST00000312358.7	+	12	3557	c.3425A>G	c.(3424-3426)cAt>cGt	p.H1142R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1142	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTTAACACCCATGGCCAGGCC	0.652													7	35	---	---	---	---	0	0
AP1S3	130340	broad.mit.edu	37	2	224642531	224642531	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:224642531T>A	ENST00000443700.1	-	2	210	c.59A>T	c.(58-60)tAc>tTc	p.Y20F	AP1S3_ENST00000396654.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000423110.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000446015.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000396653.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000409375.1_Missense_Mutation_p.Y20F			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	20					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAGAGTGATGTACCATTTCTG	0.423													10	11	---	---	---	---	0	0
GPR55	9290	broad.mit.edu	37	2	231775091	231775091	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:231775091A>G	ENST00000392040.1	-	2	779	c.587T>C	c.(586-588)aTc>aCc	p.I196T	GPR55_ENST00000392039.2_Missense_Mutation_p.I196T	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	196					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GAAGCCCATGATGCCCATGGG	0.567													34	55	---	---	---	---	0	0
TTLL3	26140	broad.mit.edu	37	3	9855030	9855030	+	Splice_Site	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:9855030G>A	ENST00000547186.1	+	4	531		c.e4+1		TTLL3_ENST00000397241.1_Splice_Site|TTLL3_ENST00000426895.4_Splice_Site|TTLL3_ENST00000427853.3_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Splice_Site	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3						axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGCTCTGATGGTGAGGGCCCT	0.517													5	7	---	---	---	---	0	0
DALRD3	55152	broad.mit.edu	37	3	49053448	49053448	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:49053448G>T	ENST00000440857.1	-	11	1602	c.900C>A	c.(898-900)gaC>gaA	p.D300E	DALRD3_ENST00000441576.2_Missense_Mutation_p.L459M|DALRD3_ENST00000313778.5_Missense_Mutation_p.D300E|DALRD3_ENST00000341949.4_Missense_Mutation_p.D467E|DALRD3_ENST00000395462.4_Missense_Mutation_p.D300E			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	467					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGCTGTGCAGTCCAGCACTG	0.567													19	41	---	---	---	---	0	0
ATR	545	broad.mit.edu	37	3	142204017	142204017	+	Silent	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:142204017A>T	ENST00000350721.4	-	36	6307	c.6186T>A	c.(6184-6186)ggT>ggA	p.G2062G	ATR_ENST00000383101.3_Silent_p.G1998G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2062	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGATGAGATCACCTTGCTTTT	0.408								Other conserved DNA damage response genes					5	57	---	---	---	---	0	0
MME	4311	broad.mit.edu	37	3	154884795	154884795	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:154884795G>T	ENST00000460393.1	+	18	1885	c.1765G>T	c.(1765-1767)Ggc>Tgc	p.G589C	MME_ENST00000493237.1_Missense_Mutation_p.G589C|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.G589C|MME_ENST00000462745.1_Missense_Mutation_p.G589C|MME_ENST00000492661.1_Missense_Mutation_p.G589C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	589					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AATCACCCATGGCTTCGATGA	0.443													19	75	---	---	---	---	0	0
SERPINI1	5274	broad.mit.edu	37	3	167525032	167525032	+	Splice_Site	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:167525032G>T	ENST00000295777.5	+	6	1313	c.882G>T	c.(880-882)agG>agT	p.R294S	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Splice_Site_p.R294S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	294					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TGTTCTCCAGGTTCACAGTGG	0.348													5	35	---	---	---	---	0	0
ZNF721	170960	broad.mit.edu	37	4	436020	436020	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:436020T>C	ENST00000338977.5	-	2	2248	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.I746V|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CCAGTATGAATTTTCTTATAT	0.378													9	11	---	---	---	---	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445228	10445228	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:10445228G>A	ENST00000326756.3	-	3	3163	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	909					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTGAGACAGCGGCTAGGTTCA	0.428													20	51	---	---	---	---	0	0
AFF1	4299	broad.mit.edu	37	4	87968120	87968120	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:87968120C>A	ENST00000307808.6	+	3	832	c.412C>A	c.(412-414)Cca>Aca	p.P138T	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.P145T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	138						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GATGGCGCAGCCAAGAACTGA	0.572													15	33	---	---	---	---	0	0
TENM3	55714	broad.mit.edu	37	4	183714866	183714866	+	Silent	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:183714866C>A	ENST00000511685.1	+	26	7164	c.7041C>A	c.(7039-7041)acC>acA	p.T2347T	TENM3_ENST00000406950.2_Silent_p.T2347T					teneurin transmembrane protein 3																		ACCCACTCACCAAATTAATCC	0.408													21	33	---	---	---	---	0	0
STOX2	56977	broad.mit.edu	37	4	184930515	184930515	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:184930515C>A	ENST00000308497.4	+	3	1959	c.524C>A	c.(523-525)cCc>cAc	p.P175H	STOX2_ENST00000438269.1_Missense_Mutation_p.P175H	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	175					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCTCCGCAACCCGGGACCATC	0.537													27	57	---	---	---	---	0	0
PRR16	51334	broad.mit.edu	37	5	120022392	120022392	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:120022392T>C	ENST00000379551.2	+	3	1191	c.834T>C	c.(832-834)acT>acC	p.T278T	PRR16_ENST00000407149.2_Silent_p.T301T|PRR16_ENST00000505123.1_Silent_p.T231T|PRR16_ENST00000446965.1_Silent_p.T231T	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	301	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGTCAACCACTACAACCGTGT	0.373													18	19	---	---	---	---	0	0
PCDHGA8	0	broad.mit.edu	37	5	140773100	140773100	+	Silent	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:140773100G>A	ENST00000398604.2	+	1	720	c.720G>A	c.(718-720)ccG>ccA	p.P240P	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCCCCGGTTTTTCCTC	0.582													26	64	---	---	---	---	0	0
SPRY4	81848	broad.mit.edu	37	5	141694233	141694233	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:141694233C>T	ENST00000344120.4	-	3	696	c.510G>A	c.(508-510)gcG>gcA	p.A170A	SPRY4_ENST00000434127.2_Silent_p.A147A	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	147	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTGGGACCGCCGGGCCCT	0.652									Testicular Cancer, Familial Clustering of				6	86	---	---	---	---	0	0
TTC1	7265	broad.mit.edu	37	5	159437759	159437759	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:159437759G>T	ENST00000231238.5	+	2	334	c.224G>T	c.(223-225)gGa>gTa	p.G75V	TTC1_ENST00000522793.1_Missense_Mutation_p.G75V	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	75					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GAGGAGCCAGGAGCGGACAAG	0.463													5	15	---	---	---	---	0	0
C5orf45	51149	broad.mit.edu	37	5	179264557	179264557	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:179264557G>A	ENST00000292586.6	-	7	956	c.866C>T	c.(865-867)aCa>aTa	p.T289I	C5orf45_ENST00000523084.1_Missense_Mutation_p.T155I|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.T234I	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	289										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GACGGGGTGTGTGGCCCGAGG	0.662													34	66	---	---	---	---	0	0
RNF8	9025	broad.mit.edu	37	6	37336834	37336834	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:37336834A>G	ENST00000373479.4	+	3	1008	c.815A>G	c.(814-816)aAt>aGt	p.N272S	RNF8_ENST00000469731.1_Missense_Mutation_p.N272S|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	272					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCCGTTATGAATGTGAAAAAG	0.453													11	30	---	---	---	---	0	0
MYO6	4646	broad.mit.edu	37	6	76599811	76599811	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:76599811A>G	ENST00000369981.3	+	26	2975	c.2696A>G	c.(2695-2697)tAt>tGt	p.Y899C	MYO6_ENST00000369977.3_Missense_Mutation_p.Y899C|MYO6_ENST00000369985.4_Missense_Mutation_p.Y899C|MYO6_ENST00000369975.1_Missense_Mutation_p.Y899C			Q9UM54	MYO6_HUMAN	myosin VI	899					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGAAAGAATATGATGCACTG	0.368													3	48	---	---	---	---	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655654	138655654	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:138655654C>T	ENST00000251691.4	+	33	5837	c.5671C>T	c.(5671-5673)Cct>Tct	p.P1891S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1891					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCGTCCAGCCTGTCAGCAA	0.572													9	13	---	---	---	---	0	0
DYNLT1	6993	broad.mit.edu	37	6	159057917	159057917	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:159057917A>C	ENST00000367089.3	-	5	314	c.284T>G	c.(283-285)gTg>gGg	p.V95G	DYNLT1_ENST00000367088.1_3'UTR	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	95	Interaction with GNB1 (By similarity).				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CTCCCATCGCACAGTGCAGCT	0.512													3	17	---	---	---	---	0	0
PSMG3	84262	broad.mit.edu	37	7	1608783	1608783	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:1608783T>C	ENST00000288607.2	-	1	846	c.193A>G	c.(193-195)Aaa>Gaa	p.K65E	PSMG3_ENST00000252329.3_Missense_Mutation_p.K65E|PSMG3_ENST00000404674.3_Missense_Mutation_p.K65E	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	65										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		AGAAGGACTTTTGTGGTGAGC	0.602													19	24	---	---	---	---	0	0
AVL9	23080	broad.mit.edu	37	7	32591878	32591878	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:32591878C>T	ENST00000318709.4	+	6	721	c.500C>T	c.(499-501)gCt>gTt	p.A167V	AVL9_ENST00000404479.1_Missense_Mutation_p.A167V|AVL9_ENST00000409301.1_Missense_Mutation_p.A167V	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	167						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGGGAGGTGCTTCATTAGAA	0.313													3	16	---	---	---	---	0	0
ABCA13	154664	broad.mit.edu	37	7	48266865	48266865	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:48266865C>A	ENST00000435803.1	+	6	499	c.475C>A	c.(475-477)Ctc>Atc	p.L159I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	159					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGATGGATCTCAATAAGAC	0.388													4	75	---	---	---	---	0	0
TECPR1	25851	broad.mit.edu	37	7	97860340	97860340	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:97860340C>T	ENST00000447648.2	-	15	2514	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	TECPR1_ENST00000542604.1_Missense_Mutation_p.D669N|TECPR1_ENST00000379795.3_Missense_Mutation_p.D740N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	739						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGAAGATGTCCCCCTTGCAG	0.692													6	36	---	---	---	---	0	0
RELN	5649	broad.mit.edu	37	7	103124148	103124148	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:103124148T>A	ENST00000428762.1	-	62	10292	c.10133A>T	c.(10132-10134)cAg>cTg	p.Q3378L	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Q3378L|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Missense_Mutation_p.Q3378L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3378					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCCTTTGGCTGGTGCTGGGC	0.537													42	154	---	---	---	---	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117501355	117501355	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:117501355C>G	ENST00000160373.3	-	2	188	c.97G>C	c.(97-99)Gtg>Ctg	p.V33L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	33										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGAGTATCCACATCAAACTCT	0.458													3	19	---	---	---	---	0	0
TTC26	79989	broad.mit.edu	37	7	138833005	138833005	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:138833005A>G	ENST00000464848.1	+	7	679	c.599A>G	c.(598-600)tAc>tGc	p.Y200C	TTC26_ENST00000430935.1_Missense_Mutation_p.Y200C|TTC26_ENST00000343187.4_Missense_Mutation_p.Y169C|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.Y200C|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000495038.1_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	200							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AAGTTGGATTACTATGATGTG	0.393													4	73	---	---	---	---	0	0
TRBV6-6	0	broad.mit.edu	37	7	142162078	142162078	+	RNA	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:142162078T>A	ENST00000390371.3	-	0	240																											AACTGAATAATAAATCAGCTT	0.478													69	81	---	---	---	---	0	0
RALYL	138046	broad.mit.edu	37	8	85686864	85686864	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:85686864A>G	ENST00000521268.1	+	3	1412	c.307A>G	c.(307-309)Aag>Gag	p.K103E	RALYL_ENST00000521376.1_Missense_Mutation_p.K30E|RALYL_ENST00000523850.1_Missense_Mutation_p.K30E|RALYL_ENST00000521695.1_Missense_Mutation_p.K103E|RALYL_ENST00000517638.1_Missense_Mutation_p.K116E|RALYL_ENST00000518566.1_Missense_Mutation_p.K103E|RALYL_ENST00000522455.1_Missense_Mutation_p.K103E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	103							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ACCTGGAAACAAGAGGCCCCT	0.353													6	11	---	---	---	---	0	0
CA2	760	broad.mit.edu	37	8	86386011	86386011	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:86386011A>T	ENST00000285379.5	+	3	552	c.322A>T	c.(322-324)Act>Tct	p.T108S		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	108					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TTCAGAGCATACTGTGGATAA	0.343													19	33	---	---	---	---	0	0
SNX31	169166	broad.mit.edu	37	8	101612611	101612611	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:101612611A>T	ENST00000311812.2	-	9	890	c.740T>A	c.(739-741)tTa>tAa	p.L247*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.L148*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	247					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAAAGCTTCTAATTTCTGCCT	0.363													17	103	---	---	---	---	0	0
KLHL38	340359	broad.mit.edu	37	8	124664821	124664821	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:124664821A>G	ENST00000325995.7	-	1	369	c.346T>C	c.(346-348)Ttc>Ctc	p.F116L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	116										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGCTTGGGGAACTGTAGCATG	0.567													9	33	---	---	---	---	0	0
FAM154A	158297	broad.mit.edu	37	9	18941638	18941638	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:18941638T>C	ENST00000380534.4	-	3	697	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	140										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTCCCACCTTTATAAGTAGGC	0.493													8	30	---	---	---	---	0	0
TEK	7010	broad.mit.edu	37	9	27217729	27217729	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:27217729A>G	ENST00000380036.4	+	19	3477	c.3035A>G	c.(3034-3036)tAc>tGc	p.Y1012C	TEK_ENST00000406359.4_Missense_Mutation_p.Y969C|TEK_ENST00000519097.1_Missense_Mutation_p.Y864C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1012	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCACTGAATTACAGTGTGTAC	0.438													16	31	---	---	---	---	0	0
FOXB2	442425	broad.mit.edu	37	9	79635159	79635159	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:79635159C>G	ENST00000376708.1	+	1	589	c.589C>G	c.(589-591)Cag>Gag	p.Q197E		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	197					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CCTCCCGTCACAGCCCCCGCA	0.761													14	26	---	---	---	---	0	0
MYO3A	53904	broad.mit.edu	37	10	26500819	26500819	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:26500819C>G	ENST00000265944.5	+	35	4944	c.4778C>G	c.(4777-4779)gCa>gGa	p.A1593G	MYO3A_ENST00000543632.1_Missense_Mutation_p.S608R	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1593					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGAGAGCCAGCAGCCAACCCC	0.652													10	24	---	---	---	---	0	0
DDX50	79009	broad.mit.edu	37	10	70673953	70673953	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:70673953C>A	ENST00000373585.3	+	7	1189	c.1082C>A	c.(1081-1083)aCt>aAt	p.T361N		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	361						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GCTGCAACTACTGTGGAAGTA	0.348													13	14	---	---	---	---	0	0
RP11-464F9.1	0	broad.mit.edu	37	10	75488174	75488174	+	RNA	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:75488174A>C	ENST00000399449.3	-	0	199				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							GCAGACTGAAATGCAAAAGCT	0.448													3	37	---	---	---	---	0	0
ANO3	63982	broad.mit.edu	37	11	26681858	26681858	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:26681858T>C	ENST00000256737.3	+	27	3665	c.2813T>C	c.(2812-2814)gTa>gCa	p.V938A	ANO3_ENST00000525139.1_Missense_Mutation_p.V922A|ANO3_ENST00000531568.1_Missense_Mutation_p.V792A|ANO3_ENST00000537978.1_Missense_Mutation_p.V922A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	938						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATTCCAGACGTACCAAAGGGT	0.383													26	49	---	---	---	---	0	0
LRP4	4038	broad.mit.edu	37	11	46897058	46897058	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:46897058T>G	ENST00000378623.1	-	27	4116	c.3874A>C	c.(3874-3876)Aac>Cac	p.N1292H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1292					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCTGGCAGGTTGGACCTCACG	0.597													15	30	---	---	---	---	0	0
SSRP1	6749	broad.mit.edu	37	11	57100120	57100120	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:57100120G>T	ENST00000278412.2	-	6	1013	c.747C>A	c.(745-747)gaC>gaA	p.D249E		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	249					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCTGGCGCTGGTCCTTGTGGG	0.488													11	18	---	---	---	---	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760841	62760841	+	Silent	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:62760841C>A	ENST00000311438.8	-	9	1583	c.1584G>T	c.(1582-1584)ggG>ggT	p.G528G	SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000336232.2_Intron|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000430500.2_Intron			Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	58					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AAGCCCTGGGCCCAGACCTGC	0.592													14	19	---	---	---	---	0	0
KDM2A	22992	broad.mit.edu	37	11	67017956	67017956	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:67017956C>A	ENST00000529006.2	+	17	2901	c.2455C>A	c.(2455-2457)Ctg>Atg	p.L819M	KDM2A_ENST00000530342.1_Missense_Mutation_p.L380M|KDM2A_ENST00000308783.5_Missense_Mutation_p.L277M|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGTGCCCAAGCTGCAGGCCAT	0.622													12	52	---	---	---	---	0	0
ME3	10873	broad.mit.edu	37	11	86160951	86160951	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:86160951A>T	ENST00000543262.1	-	10	1437	c.1111T>A	c.(1111-1113)Tct>Act	p.S371T	ME3_ENST00000393324.3_Missense_Mutation_p.S371T|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.S371T	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	371					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AGCCCTTTAGAGTCCACCATC	0.527													26	62	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92086237	92086237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:92086237G>A	ENST00000298047.6	+	1	976	c.959G>A	c.(958-960)tGg>tAg	p.W320*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.W320*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.W170*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.W320*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	320	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAGGAAAGTGGTTGAATGAG	0.448										TCGA Ovarian(4;0.039)			4	14	---	---	---	---	0	0
FOLR4	390243	broad.mit.edu	37	11	94039857	94039857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:94039857G>A	ENST00000440961.2	+	2	361	c.317G>A	c.(316-318)tGg>tAg	p.W106*		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	106						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CTGGGGCCCTGGATCCAGCCA	0.537													13	29	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108214036	108214036	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:108214036G>A	ENST00000278616.4	+	57	8741	c.8356G>A	c.(8356-8358)Ggt>Agt	p.G2786S	ATM_ENST00000452508.2_Missense_Mutation_p.G2786S|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2786	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CAATGAAGATGGTGCTCATAA	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			19	59	---	---	---	---	0	0
THYN1	29087	broad.mit.edu	37	11	134120183	134120183	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:134120183C>T	ENST00000341541.3	-	3	738	c.277G>A	c.(277-279)Gtt>Att	p.V93I	THYN1_ENST00000352327.5_Missense_Mutation_p.V93I|THYN1_ENST00000392594.3_Missense_Mutation_p.V93I|THYN1_ENST00000392595.2_Missense_Mutation_p.V93I	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	93						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TAGTTACGAACACCATCCCAG	0.493													8	28	---	---	---	---	0	0
WNK1	65125	broad.mit.edu	37	12	863369	863369	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:863369G>A	ENST00000537687.1	+	1	1281	c.638G>A	c.(637-639)gGa>gAa	p.G213E	WNK1_ENST00000315939.6_Missense_Mutation_p.G213E|WNK1_ENST00000447667.2_Missense_Mutation_p.G213E|WNK1_ENST00000530271.2_Missense_Mutation_p.G213E|WNK1_ENST00000535572.1_Missense_Mutation_p.G213E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	213					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAGGCCGTGGGAATGTCTAAC	0.577													6	54	---	---	---	---	0	0
PZP	5858	broad.mit.edu	37	12	9317890	9317890	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:9317890G>T	ENST00000261336.2	-	19	2360	c.2332C>A	c.(2332-2334)Ctg>Atg	p.L778M	PZP_ENST00000381997.2_Missense_Mutation_p.L647M|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTTCGGACAGGCAGAAGGCC	0.562													20	58	---	---	---	---	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21392117	21392117	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:21392117T>C	ENST00000256958.2	+	15	2166	c.2070T>C	c.(2068-2070)caT>caC	p.H690H		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	690					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GTGAAACACATTGTTAAGGGG	0.373													23	49	---	---	---	---	0	0
DNM1L	10059	broad.mit.edu	37	12	32886710	32886710	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:32886710A>T	ENST00000452533.2	+	13	1672	c.1508A>T	c.(1507-1509)gAt>gTt	p.D503V	DNM1L_ENST00000358214.5_Missense_Mutation_p.D516V|DNM1L_ENST00000547312.1_Missense_Mutation_p.D503V|DNM1L_ENST00000553257.1_Missense_Mutation_p.D516V|DNM1L_ENST00000266481.6_Missense_Mutation_p.D503V|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000549701.1_Missense_Mutation_p.D503V|DNM1L_ENST00000381000.4_Missense_Mutation_p.D516V|DNM1L_ENST00000414834.2_Missense_Mutation_p.D300V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	503	B domain.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GACTTTGCTGATGCTTGTGGG	0.308													13	91	---	---	---	---	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452198	100452198	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:100452198T>A	ENST00000279907.7	-	14	3069	c.2857A>T	c.(2857-2859)Agt>Tgt	p.S953C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S603C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	953										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTGTATCACTAGCTGATTTA	0.318													10	8	---	---	---	---	0	0
BRCA2	675	broad.mit.edu	37	13	32906456	32906456	+	Missense_Mutation	SNP	G	G	C	rs80359088		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr13:32906456G>C	ENST00000544455.1	+	10	1068	c.841G>C	c.(841-843)Gac>Cac	p.D281H	BRCA2_ENST00000380152.3_Missense_Mutation_p.D281H	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	281					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAGCTGCAAAGACCACATTGG	0.289			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	12	---	---	---	---	0	0
TRPC4	7223	broad.mit.edu	37	13	38213401	38213401	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr13:38213401T>C	ENST00000379705.3	-	9	2972	c.2115A>G	c.(2113-2115)caA>caG	p.Q705Q	TRPC4_ENST00000379673.2_Silent_p.Q640Q|TRPC4_ENST00000379681.3_Silent_p.Q710Q|TRPC4_ENST00000338947.5_Silent_p.Q532Q|TRPC4_ENST00000379679.1_Silent_p.Q532Q|TRPC4_ENST00000447043.1_Silent_p.Q705Q|TRPC4_ENST00000358477.2_Silent_p.Q705Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Silent_p.Q705Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	705	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTACTTGGTATTGGTGATGTC	0.338													22	52	---	---	---	---	0	0
TRAV18	0	broad.mit.edu	37	14	22471727	22471727	+	RNA	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr14:22471727T>G	ENST00000390446.3	+	0	255																											GCTATTCAACTTTTCTATTCT	0.493													22	25	---	---	---	---	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91338504	91338504	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr14:91338504T>A	ENST00000261991.3	-	17	2496	c.2323A>T	c.(2323-2325)Aca>Tca	p.T775S	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.T696S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	775					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTGGTGGGTGTAGTTTTACCG	0.502													28	31	---	---	---	---	0	0
CYFIP1	23191	broad.mit.edu	37	15	22929865	22929865	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:22929865G>T	ENST00000313077.7	+	6	664	c.539G>T	c.(538-540)aGt>aTt	p.S180I	CYFIP1_ENST00000560848.1_Missense_Mutation_p.S180I	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	180					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATGAAGTGCAGTGTGAAGAAC	0.572													16	39	---	---	---	---	0	0
ZNF770	54989	broad.mit.edu	37	15	35275428	35275428	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:35275428G>C	ENST00000356321.4	-	3	552	c.208C>G	c.(208-210)Ctg>Gtg	p.L70V		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGCCTCTCCAGATGAACTAGT	0.363													6	21	---	---	---	---	0	0
UACA	55075	broad.mit.edu	37	15	70959286	70959286	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:70959286T>A	ENST00000322954.6	-	16	3922	c.3737A>T	c.(3736-3738)aAa>aTa	p.K1246I	UACA_ENST00000379983.2_Missense_Mutation_p.K1233I|UACA_ENST00000539319.1_Missense_Mutation_p.K1137I|UACA_ENST00000560441.1_Missense_Mutation_p.K1231I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1246						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTGGCCAATTTTTCATTTAA	0.328													23	36	---	---	---	---	0	0
GRIN2A	0	broad.mit.edu	37	16	9934873	9934873	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:9934873A>T	ENST00000396573.2	-	7	1726	c.1417T>A	c.(1417-1419)Ttt>Att	p.F473I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.F316I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.F473I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.F473I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	473					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCGTAAGTAAACTTCACAGTT	0.403													31	70	---	---	---	---	0	0
SRCAP	10847	broad.mit.edu	37	16	30749840	30749840	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:30749840G>A	ENST00000262518.4	+	34	8864	c.8479G>A	c.(8479-8481)Gct>Act	p.A2827T	SRCAP_ENST00000344771.4_Missense_Mutation_p.A2669T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2765T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2827	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCCTTCATTGCTCGCCGTCA	0.632													22	22	---	---	---	---	0	0
SSH2	85464	broad.mit.edu	37	17	27999097	27999097	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:27999097T>G	ENST00000269033.3	-	8	735	c.584A>C	c.(583-585)aAc>aCc	p.N195T	SSH2_ENST00000540801.1_Missense_Mutation_p.N222T|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	195					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGTAGTAGTTATGCGCTCT	0.463													18	27	---	---	---	---	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074193	34074193	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:34074193C>T	ENST00000254466.6	-	5	954	c.927G>A	c.(925-927)atG>atA	p.M309I	GAS2L2_ENST00000587565.1_Missense_Mutation_p.M293I	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	309					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCTGATGGTCATTGTAGGCT	0.612													52	98	---	---	---	---	0	0
GRB7	2886	broad.mit.edu	37	17	37903005	37903005	+	Splice_Site	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:37903005G>A	ENST00000309156.4	+	15	1711	c.1454G>A	c.(1453-1455)aGc>aAc	p.S485N	GRB7_ENST00000445327.2_Splice_Site_p.S508N|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394211.3_Splice_Site_p.S485N|GRB7_ENST00000394209.2_Splice_Site_p.S485N|GRB7_ENST00000309185.3_3'UTR	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	485	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTACCCCAGAGCGAGGAGGAG	0.607													5	102	---	---	---	---	0	0
KANSL1	284058	broad.mit.edu	37	17	44128012	44128012	+	Translation_Start_Site	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:44128012C>T	ENST00000393476.3	-	0	2377				KANSL1_ENST00000432791.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000575318.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000572904.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000574590.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000262419.6_Missense_Mutation_p.C636Y			Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1							MLL1 complex	protein binding										GCCTGAACCACACAGTGCGCA	0.493													4	19	---	---	---	---	0	0
ABCC3	8714	broad.mit.edu	37	17	48741195	48741195	+	Silent	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:48741195G>T	ENST00000285238.8	+	9	1232	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	ABCC3_ENST00000427699.1_Silent_p.G384G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	384	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTCGTACTGGGATCATGGGTG	0.557													18	33	---	---	---	---	0	0
APPBP2	10513	broad.mit.edu	37	17	58525052	58525052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:58525052G>A	ENST00000083182.3	-	13	1935	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	550					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ACTGAATATTGCCGATCTCGC	0.448													42	85	---	---	---	---	0	0
PSMC5	5705	broad.mit.edu	37	17	61908885	61908885	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:61908885A>T	ENST00000310144.6	+	10	1297	c.989A>T	c.(988-990)aAg>aTg	p.K330M	PSMC5_ENST00000580864.1_Missense_Mutation_p.K322M|PSMC5_ENST00000581882.1_Missense_Mutation_p.K322M|PSMC5_ENST00000375812.4_Missense_Mutation_p.K322M	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GACATTTTGAAGATTCATTCT	0.542													30	65	---	---	---	---	0	0
BPTF	2186	broad.mit.edu	37	17	65940437	65940437	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:65940437A>G	ENST00000321892.4	+	22	7088	c.7027A>G	c.(7027-7029)Aca>Gca	p.T2343A	BPTF_ENST00000335221.5_Missense_Mutation_p.T2343A|BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000306378.6_Missense_Mutation_p.T2217A|BPTF_ENST00000424123.3_Missense_Mutation_p.T2204A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2343	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTGGCAACAACAGCCACCAC	0.537													31	40	---	---	---	---	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892339	2892339	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr18:2892339G>C	ENST00000254528.3	+	4	2373	c.2214G>C	c.(2212-2214)tgG>tgC	p.W738C		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	738					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCAGCCTGTGGAACTGTGTCA	0.507													11	13	---	---	---	---	0	0
CEP76	79959	broad.mit.edu	37	18	12699203	12699203	+	Splice_Site	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr18:12699203C>A	ENST00000262127.2	-	4	521		c.e4-1		PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Intron|CEP76_ENST00000586887.1_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa						G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAATATTAGCTGTAAAGTGT	0.363													16	18	---	---	---	---	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670020	8670020	+	Silent	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:8670020C>A	ENST00000270328.4	-	3	578	c.312G>T	c.(310-312)gtG>gtT	p.V104V	ADAMTS10_ENST00000597188.1_Silent_p.V104V|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	104					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCAGTACTCCACGGAGACGT	0.687													5	27	---	---	---	---	0	0
EMR2	30817	broad.mit.edu	37	19	14887554	14887554	+	Silent	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:14887554G>C	ENST00000315576.3	-	2	466	c.15C>G	c.(13-15)gtC>gtG	p.V5V	EMR2_ENST00000353876.1_Silent_p.V5V|EMR2_ENST00000594294.1_Silent_p.V5V|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000346057.1_Silent_p.V5V|EMR2_ENST00000392967.2_Silent_p.V5V|EMR2_ENST00000594076.1_Silent_p.V5V|EMR2_ENST00000353005.1_Silent_p.V5V|EMR2_ENST00000392965.3_Silent_p.V5V|EMR2_ENST00000595839.1_Silent_p.V5V|EMR2_ENST00000596991.2_Silent_p.V5V|EMR2_ENST00000601345.1_Silent_p.V5V	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	5					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGACGAGAAAGACGCGGCCTC	0.652													4	13	---	---	---	---	0	0
CHERP	10523	broad.mit.edu	37	19	16630018	16630018	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:16630018C>G	ENST00000546361.2	-	17	2854	c.2703G>C	c.(2701-2703)aaG>aaC	p.K901N	CTD-3222D19.2_ENST00000409035.1_3'UTR|C19orf44_ENST00000221671.3_Intron|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.K912N	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	901					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGGAGTAGCTCTTGTTCCTGC	0.642													17	21	---	---	---	---	0	0
ABHD8	79575	broad.mit.edu	37	19	17405251	17405251	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:17405251T>G	ENST00000247706.3	-	4	1234	c.995A>C	c.(994-996)aAc>aCc	p.N332T	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	332							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GGATGACACGTTGAAAGCGTT	0.642													38	85	---	---	---	---	0	0
COMP	1311	broad.mit.edu	37	19	18897449	18897449	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:18897449G>C	ENST00000542601.2	-	10	1437	c.1048C>G	c.(1048-1050)Cag>Gag	p.Q350E	COMP_ENST00000425807.1_Missense_Mutation_p.Q330E|COMP_ENST00000222271.2_Missense_Mutation_p.Q383E			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	383					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTGTCGGCCTGGTTGCGGATC	0.577													17	26	---	---	---	---	0	0
CCDC9	26093	broad.mit.edu	37	19	47773663	47773663	+	Splice_Site	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:47773663G>A	ENST00000221922.6	+	9	1124		c.e9-1			NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CTTTCCCCCAGGTTCAAGGAT	0.592													8	24	---	---	---	---	0	0
TEAD2	8463	broad.mit.edu	37	19	49858558	49858558	+	Splice_Site	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:49858558A>G	ENST00000377214.4	-	4	840		c.e4+1		TEAD2_ENST00000598810.1_Intron|TEAD2_ENST00000311227.2_Intron|TEAD2_ENST00000539846.1_Splice_Site|TEAD2_ENST00000598397.1_Splice_Site|TEAD2_ENST00000593945.1_Intron|TEAD2_ENST00000601519.1_Splice_Site			Q15562	TEAD2_HUMAN	TEA domain family member 2						hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ACAATCCCCAACCTGGACCAC	0.587													15	43	---	---	---	---	0	0
PRMT1	0	broad.mit.edu	37	19	50187286	50187286	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:50187286C>G	ENST00000532489.1	+	6	883	c.377C>G	c.(376-378)tCc>tGc	p.S126C	PRMT1_ENST00000391851.4_Missense_Mutation_p.S154C|PRMT1_ENST00000454376.2_Missense_Mutation_p.S172C			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	153						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TTCTACGAGTCCATGCTCAAC	0.607													4	74	---	---	---	---	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628471	51628471	+	Silent	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:51628471T>G	ENST00000440804.3	+	1	307	c.240T>G	c.(238-240)gcT>gcG	p.A80A	SIGLEC9_ENST00000250360.3_Silent_p.A80A	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	80	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACAACCCAGCTCGGGCAGTGT	0.572													28	72	---	---	---	---	0	0
ZFP28	140612	broad.mit.edu	37	19	57065052	57065052	+	Splice_Site	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:57065052G>C	ENST00000301318.3	+	8	969		c.e8-1		AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GTATCTTTCAGGCCAGCGATC	0.373													14	35	---	---	---	---	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128064	3128064	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:3128064C>T	ENST00000380266.3	-	2	1974	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	551					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AATTCATATCCTTCTCTGCTA	0.448													10	35	---	---	---	---	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506572	44506572	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:44506572A>T	ENST00000255152.2	+	2	1584	c.1375A>T	c.(1375-1377)Atc>Ttc	p.I459F	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.I453F	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	459							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGCTTTTGGAATCTGTGGAGA	0.542													14	21	---	---	---	---	0	0
DIDO1	11083	broad.mit.edu	37	20	61513601	61513601	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:61513601T>C	ENST00000266070.4	-	16	4032	c.3707A>G	c.(3706-3708)cAg>cGg	p.Q1236R	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1236R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1236					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTTCCGACTGCGGGACTGT	0.592													44	110	---	---	---	---	0	0
ZBTB46	140685	broad.mit.edu	37	20	62384051	62384051	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:62384051C>T	ENST00000245663.4	-	4	1536	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	ZBTB46_ENST00000302995.2_Silent_p.K462K|ZBTB46_ENST00000395104.1_Silent_p.K462K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCGTGTGGCGCTTCATGTGCT	0.701													7	10	---	---	---	---	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31710000	31710000	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:31710000C>A	ENST00000382835.2	-	0	12					NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1							intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GCTAAAAATCCTTAAAGATGG	0.438													12	20	---	---	---	---	0	0
PCP4	5121	broad.mit.edu	37	21	41301036	41301036	+	Nonstop_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:41301036G>C	ENST00000328619.5	+	3	374	c.189G>C	c.(187-189)taG>taC	p.*63Y	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	0					central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				CTCAGTCCTAGTGGGAGAACC	0.468													7	27	---	---	---	---	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994012	45994012	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:45994012T>G	ENST00000400374.3	+	1	407	c.377T>G	c.(376-378)gTg>gGg	p.V126G	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	126	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GTGTGCTGTGTGCCCGTCTGC	0.642													34	252	---	---	---	---	0	0
MRPL40	64976	broad.mit.edu	37	22	19423224	19423224	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:19423224G>T	ENST00000333130.3	+	4	1013	c.360G>T	c.(358-360)aaG>aaT	p.K120N	MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	120					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TTCTGAAGAAGTGGTCCTTGT	0.527													59	114	---	---	---	---	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121937	38121937	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:38121937C>T	ENST00000406386.3	+	7	3629	c.3374C>T	c.(3373-3375)cCa>cTa	p.P1125L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1125					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCCTCCCCACCACGCCAG	0.637													6	138	---	---	---	---	0	0
KAL1	3730	broad.mit.edu	37	X	8553409	8553409	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:8553409T>C	ENST00000262648.3	-	6	904	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	252	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GGGTCTTATGTCAGTCAGTTG	0.498													38	7	---	---	---	---	0	0
BCORL1	63035	broad.mit.edu	37	X	129146576	129146576	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:129146576G>C	ENST00000540052.1	+	2	153	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	BCORL1_ENST00000359304.2_Missense_Mutation_p.E37Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.E37Q|BCORL1_ENST00000218147.7_Missense_Mutation_p.E37Q	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	37					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTCTGATGAGGAGTCAACGAC	0.517													28	23	---	---	---	---	0	0
BCORL1	63035	broad.mit.edu	37	X	129147472	129147472	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:129147472G>C	ENST00000540052.1	+	3	768	c.724G>C	c.(724-726)Gcc>Ccc	p.A242P	BCORL1_ENST00000359304.2_Missense_Mutation_p.A242P|BCORL1_ENST00000303743.5_Missense_Mutation_p.A242P|BCORL1_ENST00000218147.7_Missense_Mutation_p.A242P	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	242	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGTCCAAGTTGCCACTTCGGT	0.632													52	42	---	---	---	---	0	0
SAGE1	55511	broad.mit.edu	37	X	134990668	134990668	+	Silent	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:134990668A>C	ENST00000535938.1	+	12	1500	c.1333A>C	c.(1333-1335)Agg>Cgg	p.R445R	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.R445R|SAGE1_ENST00000324447.3_Silent_p.R445R	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	445										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCATGAAGCAAGGATGGAAAA	0.423													32	19	---	---	---	---	0	0
PTCH2	8643	broad.mit.edu	37	1	45295299	45295299	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:45295299C>T	ENST00000447098.2	-	8	1081	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	PTCH2_ENST00000372192.3_Missense_Mutation_p.R357Q	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	357					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACAAAGCGCCGCTGCCAGGC	0.617									Basal Cell Nevus syndrome				13	155	---	---	---	---	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575077	74575077	+	Splice_Site	SNP	C	C	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:74575077C>A	ENST00000354431.4	-	5	1059		c.e5+1		LRRIQ3_ENST00000468759.1_Splice_Site|LRRIQ3_ENST00000395089.1_Splice_Site|LRRIQ3_ENST00000370909.2_Splice_Site	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3											NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ATTATACTTACATGTTTCCAA	0.269													4	6	---	---	---	---	0	0
PTGS2	5743	broad.mit.edu	37	1	186647446	186647446	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:186647446G>A	ENST00000367468.5	-	4	540	c.404C>T	c.(403-405)aCt>aTt	p.T135I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	135					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	AAGGGCTCTAGTATAATAGGA	0.438													8	46	---	---	---	---	0	0
HHAT	55733	broad.mit.edu	37	1	210522367	210522367	+	Silent	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:210522367C>T	ENST00000367010.1	+	2	275	c.48C>T	c.(46-48)ggC>ggT	p.G16G	HHAT_ENST00000261458.3_Silent_p.G16G|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000541565.1_Silent_p.G16G|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000391905.3_Silent_p.G16G|HHAT_ENST00000413764.2_Silent_p.G16G|HHAT_ENST00000537898.1_Silent_p.G16G	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	16					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCTCACTAGGCTTCCACTTCT	0.478													18	30	---	---	---	---	0	0
ADCK3	56997	broad.mit.edu	37	1	227170646	227170646	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:227170646T>G	ENST00000366779.1	+	13	3762	c.991T>G	c.(991-993)Ttc>Gtc	p.F331V	ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366778.1_Missense_Mutation_p.F279V|ADCK3_ENST00000458507.2_Missense_Mutation_p.F52V|ADCK3_ENST00000366777.3_Missense_Mutation_p.F331V|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	331	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GTTGGAATACTTCGAGGAGCG	0.647													10	12	---	---	---	---	0	0
PPM1G	5496	broad.mit.edu	37	2	27604624	27604624	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:27604624A>G	ENST00000344034.4	-	10	1747	c.1483T>C	c.(1483-1485)Tgt>Cgt	p.C495R	PPM1G_ENST00000350803.4_Missense_Mutation_p.C495R	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	495					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGTTGTCACACCCTGTACCA	0.547													4	89	---	---	---	---	0	0
SMEK2	57223	broad.mit.edu	37	2	55844316	55844316	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:55844316T>C	ENST00000272313.5	-	1	433	c.106A>G	c.(106-108)Aag>Gag	p.K36E	SMEK2_ENST00000407823.3_Missense_Mutation_p.K36E|SMEK2_ENST00000345102.5_Missense_Mutation_p.K36E|SMEK2_ENST00000477749.1_5'UTR	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	36	WH1.					microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GACATCCCCTTGAGCTCCTCC	0.592													38	52	---	---	---	---	0	0
SCN1A	6323	broad.mit.edu	37	2	166908358	166908358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:166908358G>A	ENST00000423058.2	-	6	852	c.835C>T	c.(835-837)Caa>Taa	p.Q279*	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q279*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	279						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGAGGCCATTGTATACATTTA	0.393													32	27	---	---	---	---	0	0
SP3	6670	broad.mit.edu	37	2	174777796	174777796	+	Splice_Site	SNP	A	A	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:174777796A>G	ENST00000310015.6	-	6	2560		c.e6+1		SP3_ENST00000418194.2_Splice_Site|SP3_ENST00000455789.2_Splice_Site	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AGTATTAGTAACCTGTATGTG	0.353													13	26	---	---	---	---	0	0
ECE2	9718	broad.mit.edu	37	3	183994314	183994314	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:183994314G>A	ENST00000404464.3	+	2	223	c.85G>A	c.(85-87)Gag>Aag	p.E29K	ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29K|EIF2B5_ENST00000444495.1_Intron	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	endothelin converting enzyme 2	0	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACGCACCCGAGACCCCCGT	0.667													16	33	---	---	---	---	0	0
ECE2	9718	broad.mit.edu	37	3	183995186	183995186	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:183995186G>A	ENST00000402825.3	+	4	764	c.764G>A	c.(763-765)gGg>gAg	p.G255E	ECE2_ENST00000359140.4_Missense_Mutation_p.G108E|ECE2_ENST00000404464.3_Missense_Mutation_p.G137E|ECE2_ENST00000357474.5_Missense_Mutation_p.G183E|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	255	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCCGATGGGCGTTCTCGC	0.602													27	54	---	---	---	---	0	0
PCDH18	54510	broad.mit.edu	37	4	138452262	138452262	+	Silent	SNP	T	T	C			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr4:138452262T>C	ENST00000344876.4	-	1	1367	c.981A>G	c.(979-981)caA>caG	p.Q327Q	PCDH18_ENST00000507846.1_Silent_p.Q107Q|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.Q327Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	327	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GACCCAAATCTTGAGCCTGAA	0.353													14	21	---	---	---	---	0	0
VCAN	1462	broad.mit.edu	37	5	82815919	82815919	+	Silent	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:82815919G>A	ENST00000265077.3	+	7	2359	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	VCAN_ENST00000512590.2_Silent_p.E550E|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.E598E|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	598	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGACTTGGAGTCAGTCTCAG	0.418													62	62	---	---	---	---	0	0
CCNJL	79616	broad.mit.edu	37	5	159680553	159680553	+	Silent	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:159680553G>A	ENST00000393977.3	-	7	1425	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.T332T	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	380						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGGTACGGGGTGTGGAGGG	0.632													33	54	---	---	---	---	0	0
TFAP2B	7021	broad.mit.edu	37	6	50810837	50810837	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:50810837C>T	ENST00000263046.4	+	8	1308	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	TFAP2B_ENST00000393655.3_Missense_Mutation_p.A372V			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	372				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GATCTACTGGCGCAGGACCGG	0.567													7	235	---	---	---	---	0	0
PKHD1	5314	broad.mit.edu	37	6	51484229	51484229	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:51484229T>C	ENST00000371117.3	-	67	12150	c.11875A>G	c.(11875-11877)Att>Gtt	p.I3959V	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3959					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTCGGACAATGTGGCGGCTA	0.552													77	71	---	---	---	---	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478836	141478836	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr7:141478836T>G	ENST00000247881.2	+	1	595	c.548T>G	c.(547-549)tTg>tGg	p.L183W	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	183					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCTTTGGTCTTGAGCTCATCT	0.408													86	137	---	---	---	---	0	0
TACC1	6867	broad.mit.edu	37	8	38699927	38699927	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr8:38699927T>G	ENST00000379931.3	+	11	2498	c.2119T>G	c.(2119-2121)Tat>Gat	p.Y707D	TACC1_ENST00000443286.2_Missense_Mutation_p.Y682D|TACC1_ENST00000520615.1_Missense_Mutation_p.Y500D|TACC1_ENST00000276520.8_Missense_Mutation_p.Y285D|TACC1_ENST00000330691.6_Missense_Mutation_p.Y269D|TACC1_ENST00000317827.4_Missense_Mutation_p.Y695D|TACC1_ENST00000348567.4_Missense_Mutation_p.Y257D|TACC1_ENST00000519416.1_Missense_Mutation_p.Y499D|TACC1_ENST00000520973.1_Missense_Mutation_p.Y471D|TACC1_ENST00000518415.1_Missense_Mutation_p.Y621D|TACC1_ENST00000520611.1_Missense_Mutation_p.Y132D			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	695	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CTTCAGGAGATATGAGAACCT	0.473													37	50	---	---	---	---	0	0
SH3GL2	6456	broad.mit.edu	37	9	17791307	17791307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:17791307C>T	ENST00000380607.4	+	7	823	c.703C>T	c.(703-705)Caa>Taa	p.Q235*	SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.Q188*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	235	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATCCTGCAGCAAGTCACGGT	0.423													36	6	---	---	---	---	0	0
ALDH1A1	216	broad.mit.edu	37	9	75526938	75526938	+	Missense_Mutation	SNP	C	C	A	rs142280224		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:75526938C>A	ENST00000297785.3	-	10	1190	c.1136G>T	c.(1135-1137)gGc>gTc	p.G379V		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	379					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GACAAAGTAGCCTTTATTCCC	0.443													45	78	---	---	---	---	0	0
CDH23	64072	broad.mit.edu	37	10	73468898	73468898	+	Silent	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr10:73468898C>T	ENST00000224721.6	+	26	3170	c.3165C>T	c.(3163-3165)gcC>gcT	p.A1055A		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1050	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCGCGATGCCGTTGTGAGAA	0.627													6	60	---	---	---	---	0	0
CTSD	1509	broad.mit.edu	37	11	1776173	1776173	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:1776173C>T	ENST00000236671.2	-	6	922	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.M134I	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	264					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGCGGGTGACATTCAGGTAG	0.622													36	51	---	---	---	---	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781513	128781513	+	Silent	SNP	G	G	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:128781513G>T	ENST00000529694.1	+	2	721	c.345G>T	c.(343-345)cgG>cgT	p.R115R	KCNJ5_ENST00000533599.1_Silent_p.R115R|KCNJ5_ENST00000338350.4_Silent_p.R115R	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	115					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTTATATCCGGGGTGACCTGG	0.507													58	61	---	---	---	---	0	0
ZBTB44	29068	broad.mit.edu	37	11	130130970	130130970	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:130130970C>G	ENST00000525842.1	-	2	1166	c.799G>C	c.(799-801)Gct>Cct	p.A267P	ZBTB44_ENST00000397753.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000357899.4_Missense_Mutation_p.A267P|ZBTB44_ENST00000530205.1_Missense_Mutation_p.A267P	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ACATAATCAGCCATTCTTCTA	0.433													7	143	---	---	---	---	0	0
DDX47	51202	broad.mit.edu	37	12	12976860	12976860	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr12:12976860C>A	ENST00000358007.3	+	8	829	c.807C>A	c.(805-807)ttC>ttA	p.F269L	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	269	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTATGATATTCTGCAGCACCT	0.413													4	138	---	---	---	---	0	0
NTRK3	4916	broad.mit.edu	37	15	88576148	88576148	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr15:88576148G>A	ENST00000394480.2	-	14	1846	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	NTRK3_ENST00000357724.2_Missense_Mutation_p.P501S|NTRK3_ENST00000317501.3_Missense_Mutation_p.P509S|NTRK3_ENST00000558676.1_Missense_Mutation_p.P501S|NTRK3_ENST00000542733.2_Missense_Mutation_p.P411S|NTRK3_ENST00000557856.1_Missense_Mutation_p.P501S|NTRK3_ENST00000360948.2_Missense_Mutation_p.P509S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P509S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Missense_Mutation_p.P509S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAATGACAGGGATGCGAGTC	0.607			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			12	16	---	---	---	---	0	0
ITGA3	3675	broad.mit.edu	37	17	48151325	48151325	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr17:48151325T>A	ENST00000320031.8	+	8	1532	c.1202T>A	c.(1201-1203)aTc>aAc	p.I401N	ITGA3_ENST00000007722.7_Missense_Mutation_p.I401N|ITGA3_ENST00000544892.1_Missense_Mutation_p.I176N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	401					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AAAGTGTACATCTATCACAGT	0.577													25	40	---	---	---	---	0	0
SPIRE1	56907	broad.mit.edu	37	18	12463458	12463458	+	Silent	SNP	G	G	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr18:12463458G>T	ENST00000409402.4	-	12	1797	c.1530C>A	c.(1528-1530)ccC>ccA	p.P510P	SPIRE1_ENST00000410092.3_Silent_p.P496P|SPIRE1_ENST00000383356.2_Silent_p.P337P|SPIRE1_ENST00000453447.2_Silent_p.P376P|SPIRE1_ENST00000309836.5_Silent_p.P299P|SPIRE1_ENST00000464481.1_5'UTR	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	510						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCTCTGGCTGGGGTGTTGATG	0.458													5	45	---	---	---	---	0	0
MAG	4099	broad.mit.edu	37	19	35800810	35800810	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:35800810C>T	ENST00000361922.4	+	8	1415	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	MAG_ENST00000392213.3_Missense_Mutation_p.A422V|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.A397V	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	422	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCCCACTGCGCGGCAGCCCGA	0.677													5	201	---	---	---	---	0	0
NOVA2	4858	broad.mit.edu	37	19	46443285	46443285	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:46443285G>A	ENST00000263257.5	-	4	1509	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	439	KH 3.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		ATCTGGATGCGAGCGCCCGTC	0.657													20	207	---	---	---	---	0	0
ZNF134	7693	broad.mit.edu	37	19	58132424	58132424	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:58132424G>A	ENST00000396161.5	+	3	1247	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	313						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TCACACTGGAGAAAATCCTTA	0.423													88	98	---	---	---	---	0	0
COL6A1	1291	broad.mit.edu	37	21	47410706	47410706	+	Missense_Mutation	SNP	G	G	A	rs121912935		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr21:47410706G>A	ENST00000361866.3	+	14	1136	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	341	Triple-helical region.		G -> D (in BM).|G -> V (in BM).		axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GGGTACCCAGGCCTGCCAGGC	0.542													42	57	---	---	---	---	0	0
CELSR2	1952	broad.mit.edu	37	1	109801499	109801499	+	Silent	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:109801499C>T	ENST00000271332.3	+	2	3817	c.3756C>T	c.(3754-3756)tcC>tcT	p.S1252S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1252	EGF-like 1; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGACTCCTCCGCGCCCTTCA	0.692													7	29	---	---	---	---	0	0
CHI3L2	1117	broad.mit.edu	37	1	111783985	111783985	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:111783985C>T	ENST00000445067.2	+	11	1726	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	CHI3L2_ENST00000524472.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000369744.2_Missense_Mutation_p.L309F|CHI3L2_ENST00000466741.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.L319F			Q15782	CH3L2_HUMAN	chitinase 3-like 2	319					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GATCACGCGGCTCCAGGATCA	0.537													34	69	---	---	---	---	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931554	155931554	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:155931554G>A	ENST00000462460.2	-	15	1755	c.1501C>T	c.(1501-1503)Cca>Tca	p.P501S	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P428S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P428S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P456S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P455S|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P457S|ARHGEF2_ENST00000477754.2_Intron			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2		PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCAGGCACTGGGGTTTGGGCC	0.602													22	82	---	---	---	---	0	0
CD1C	911	broad.mit.edu	37	1	158260938	158260938	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:158260938G>A	ENST00000368170.3	+	2	355	c.76G>A	c.(76-78)Gtc>Atc	p.V26I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	26					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCAGGAACACGTCTCCTTCCA	0.483													18	44	---	---	---	---	0	0
PARP1	142	broad.mit.edu	37	1	226555255	226555255	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:226555255G>A	ENST00000366794.5	-	17	2475	c.2332C>T	c.(2332-2334)Ctc>Ttc	p.L778F	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	778	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCTCCCCTGAGCAGACTGTAG	0.512								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					38	71	---	---	---	---	0	0
FAHD2A	51011	broad.mit.edu	37	2	96072721	96072721	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:96072721G>A	ENST00000233379.4	+	3	431	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	FAHD2A_ENST00000447036.1_Missense_Mutation_p.R93Q	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	93							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						GTCCTACCACGGTCGGAGGTA	0.597													16	36	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	140990833	140990833	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:140990833G>T	ENST00000389484.3	-	91	14693	c.13722C>A	c.(13720-13722)aaC>aaA	p.N4574K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4574					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTAAGGAGTTTCGACAGT	0.323										TSP Lung(27;0.18)			9	14	---	---	---	---	0	0
RAB33B	83452	broad.mit.edu	37	4	140393995	140393995	+	Silent	SNP	T	T	C			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:140393995T>C	ENST00000305626.5	+	2	794	c.405T>C	c.(403-405)caT>caC	p.H135H		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	135					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GCAAACAACATTTGCTAGCCA	0.393													53	75	---	---	---	---	0	0
ZNF827	152485	broad.mit.edu	37	4	146824152	146824152	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:146824152C>A	ENST00000508784.1	-	2	486	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.D87Y			Q17R98	ZN827_HUMAN	zinc finger protein 827	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACCTCACTGTCCAGTGCCACC	0.602													27	40	---	---	---	---	0	0
GCNT2	2651	broad.mit.edu	37	6	10529594	10529594	+	Silent	SNP	T	T	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr6:10529594T>A	ENST00000379597.3	+	1	1006	c.450T>A	c.(448-450)gcT>gcA	p.A150A	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Silent_p.A150A			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	150						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCCCAAATGCTTTTCTGGCTT	0.512													39	56	---	---	---	---	0	0
POLR3A	11128	broad.mit.edu	37	10	79742556	79742556	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr10:79742556C>T	ENST00000372371.3	-	27	3586	c.3449G>A	c.(3448-3450)aGa>aAa	p.R1150K		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1150					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GATGGAATATCTCACTGTCTC	0.507													5	58	---	---	---	---	0	0
OR4A16	81327	broad.mit.edu	37	11	55111605	55111605	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:55111605G>A	ENST00000314721.2	+	1	979	c.929G>A	c.(928-930)aGa>aAa	p.R310K		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTTAGAAAAAGAGTATCTCCC	0.348													7	36	---	---	---	---	0	0
LTBR	4055	broad.mit.edu	37	12	6494476	6494476	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:6494476T>G	ENST00000228918.4	+	4	729	c.403T>G	c.(403-405)Tgg>Ggg	p.W135G	LTBR_ENST00000543190.1_Missense_Mutation_p.W28G|LTBR_ENST00000539925.1_Missense_Mutation_p.W116G|LTBR_ENST00000541102.1_Missense_Mutation_p.W28G	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	135					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CTGTGCTGCCTGGGCCCTCGA	0.622													29	65	---	---	---	---	0	0
USP15	9958	broad.mit.edu	37	12	62777656	62777656	+	Silent	SNP	A	A	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:62777656A>G	ENST00000280377.5	+	10	1183	c.1125A>G	c.(1123-1125)ggA>ggG	p.G375G	USP15_ENST00000393654.3_Silent_p.G350G|USP15_ENST00000353364.3_Silent_p.G346G	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	375					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGTTCTCTGGATATCAGCAGC	0.348													24	42	---	---	---	---	0	0
NR2E3	10002	broad.mit.edu	37	15	72105883	72105883	+	RNA	SNP	G	G	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr15:72105883G>T	ENST00000398840.2	+	0	1092							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						ATGGAGACGCGTGTCCTGCAG	0.647													3	37	---	---	---	---	0	0
TBCD	6904	broad.mit.edu	37	17	80847559	80847559	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:80847559A>G	ENST00000355528.4	+	16	1679	c.1549A>G	c.(1549-1551)Aat>Gat	p.N517D	TBCD_ENST00000539345.2_Missense_Mutation_p.N517D|TBCD_ENST00000397466.2_Missense_Mutation_p.N131D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	517					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTTCCAGGAGAATGTGGGGAG	0.502													6	34	---	---	---	---	0	0
CCDC11	220136	broad.mit.edu	37	18	47753887	47753887	+	Missense_Mutation	SNP	C	C	T	rs147186159	by1000genomes	TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr18:47753887C>T	ENST00000398545.4	-	8	1526	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	470										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AAACTCTCGGCGTTTCTCTTC	0.502													28	157	---	---	---	---	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861298	34861298	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr21:34861298G>A	ENST00000314399.3	-	2	841	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	DNAJC28_ENST00000381947.3_Missense_Mutation_p.H135Y|DNAJC28_ENST00000402202.1_Missense_Mutation_p.H135Y	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	135							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTTAAATAATGTCGGTGTTGG	0.403													16	48	---	---	---	---	0	0
GGA1	26088	broad.mit.edu	37	22	38028487	38028487	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr22:38028487A>G	ENST00000406772.1	+	17	2207	c.1555A>G	c.(1555-1557)Atc>Gtc	p.I519V	GGA1_ENST00000337437.4_Missense_Mutation_p.I559V|GGA1_ENST00000343632.4_Missense_Mutation_p.I592V|GGA1_ENST00000325180.8_Missense_Mutation_p.I505V|GGA1_ENST00000381756.5_Missense_Mutation_p.I609V	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	592	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CCCCTCAGCAATCACCCAGGT	0.637													16	162	---	---	---	---	0	0
XG	7499	broad.mit.edu	37	X	2726251	2726251	+	Silent	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chrX:2726251C>T	ENST00000426774.1	+	8	625	c.402C>T	c.(400-402)ggC>ggT	p.G134G	XG_ENST00000419513.2_Silent_p.G148G|XG_ENST00000381174.5_Silent_p.G133G	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	133						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAACGTATGGCAATCCAGAAG	0.493													3	22	---	---	---	---	0	0
RPF1	80135	broad.mit.edu	37	1	84961652	84961652	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:84961652T>G	ENST00000370654.5	+	7	802	c.787T>G	c.(787-789)Ttt>Gtt	p.F263V		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	263	Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TGGACGTATGTTTGCATCTCT	0.398													17	35	---	---	---	---	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922246	159922246	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:159922246G>A	ENST00000368093.3	-	3	586	c.470C>T	c.(469-471)tCt>tTt	p.S157F	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	157	Ig-like C2-type.					integral to membrane		p.S157Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCTCCACAGAGCACACCAG	0.547													14	100	---	---	---	---	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232601028	232601028	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr1:232601028T>G	ENST00000366630.1	-	8	2736	c.2378A>C	c.(2377-2379)aAa>aCa	p.K793T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	793	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTTTCTGATTTATGGGCTGC	0.483													34	82	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179418324	179418324	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr2:179418324C>T	ENST00000589042.1	-	334	89632	c.89408G>A	c.(89407-89409)gGa>gAa	p.G29803E	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27235E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20863E|TTN_ENST00000460472.2_Missense_Mutation_p.G20738E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20930E|TTN_ENST00000591111.1_Missense_Mutation_p.G28162E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28162	Fibronectin type-III 117.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATTGACTCCAGGTTTCAG	0.423													4	58	---	---	---	---	0	0
DYTN	391475	broad.mit.edu	37	2	207564545	207564545	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr2:207564545A>G	ENST00000452335.2	-	7	741	c.625T>C	c.(625-627)Tgg>Cgg	p.W209R	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	209						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GTCGGGAGCCACAGGAGGATG	0.522													10	18	---	---	---	---	0	0
STAC	6769	broad.mit.edu	37	3	36570362	36570362	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:36570362G>T	ENST00000273183.3	+	10	1295	c.995G>T	c.(994-996)gGc>gTc	p.G332V	STAC_ENST00000457375.2_Missense_Mutation_p.G271V	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	332	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GACAGAATTGGCTTCTTTCCA	0.358													19	28	---	---	---	---	0	0
PCBP4	57060	broad.mit.edu	37	3	51992299	51992299	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:51992299G>A	ENST00000461554.1	-	14	1321	c.990C>T	c.(988-990)ccC>ccT	p.P330P	PCBP4_ENST00000395013.3_Silent_p.P170P|PCBP4_ENST00000355852.2_Silent_p.P330P|PCBP4_ENST00000395014.2_Silent_p.P351P|PCBP4_ENST00000428823.2_Silent_p.P287P|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000322099.7_Silent_p.P330P|PCBP4_ENST00000484633.1_Silent_p.P287P	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	330						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGGCGAGAAGGGGGCAGGCA	0.662													6	34	---	---	---	---	0	0
ROBO2	6092	broad.mit.edu	37	3	77666801	77666801	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:77666801C>A	ENST00000461745.1	+	22	4331	c.3431C>A	c.(3430-3432)tCc>tAc	p.S1144Y	ROBO2_ENST00000487694.3_Missense_Mutation_p.S1160Y|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1144Y|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1144					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTGCTATCTCCTTTGGACAG	0.512													25	54	---	---	---	---	0	0
IFT122	55764	broad.mit.edu	37	3	129185799	129185799	+	Nonsense_Mutation	SNP	T	T	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr3:129185799T>G	ENST00000296266.3	+	9	975	c.783T>G	c.(781-783)taT>taG	p.Y261*	IFT122_ENST00000347300.2_Intron|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000348417.2_Nonsense_Mutation_p.Y210*|IFT122_ENST00000431818.2_Nonsense_Mutation_p.Y60*	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	210					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TCAACAGATATATTCAGGAAA	0.468													31	76	---	---	---	---	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618405	89618405	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr4:89618405G>A	ENST00000323061.5	-	1	981	c.501C>T	c.(499-501)gcC>gcT	p.A167A	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	167					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		CGTCATGTTTGGCCCCCGCGG	0.602													45	115	---	---	---	---	0	0
KCNU1	157855	broad.mit.edu	37	8	36698073	36698073	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:36698073G>A	ENST00000399881.3	+	15	1648	c.1611G>A	c.(1609-1611)atG>atA	p.M537I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	537	Segment S8.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGCTGGAATGAGCTTTCCTG	0.428													7	18	---	---	---	---	0	0
ADAM2	2515	broad.mit.edu	37	8	39624425	39624425	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:39624425G>A	ENST00000265708.4	-	14	1552	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	ADAM2_ENST00000521880.1_Silent_p.I483I|ADAM2_ENST00000379853.2_Silent_p.I357I|ADAM2_ENST00000347580.4_Silent_p.I464I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	483	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATCTATACAGATCCATTGAT	0.388													5	120	---	---	---	---	0	0
ADAM2	2515	broad.mit.edu	37	8	39624531	39624531	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:39624531G>T	ENST00000265708.4	-	14	1446	c.1343C>A	c.(1342-1344)tCc>tAc	p.S448Y	ADAM2_ENST00000521880.1_Missense_Mutation_p.S448Y|ADAM2_ENST00000379853.2_Missense_Mutation_p.S322Y|ADAM2_ENST00000347580.4_Missense_Mutation_p.S429Y	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	448	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTCTTCAAAGGAAGGCCTACA	0.383													5	123	---	---	---	---	0	0
ADAM2	2515	broad.mit.edu	37	8	39624555	39624555	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:39624555G>C	ENST00000265708.4	-	14	1422	c.1319C>G	c.(1318-1320)tCa>tGa	p.S440*	ADAM2_ENST00000521880.1_Nonsense_Mutation_p.S440*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.S314*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.S421*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	440	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCTTTCTTTTGACATAAACTG	0.343													4	113	---	---	---	---	0	0
LY96	23643	broad.mit.edu	37	8	74922262	74922262	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr8:74922262A>T	ENST00000284818.2	+	3	320	c.229A>T	c.(229-231)Aat>Tat	p.N77Y	LY96_ENST00000518893.1_Missense_Mutation_p.N47Y	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	77					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATTATATTTCAATCTCTATAT	0.328													17	46	---	---	---	---	0	0
TAL2	6887	broad.mit.edu	37	9	108425068	108425068	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr9:108425068G>A	ENST00000334077.3	+	1	331	c.291G>A	c.(289-291)caG>caA	p.Q97Q		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										AGAACTACCAGGTTCCTTCAC	0.572			T	TRB@	T-ALL								12	29	---	---	---	---	0	0
DKK1	22943	broad.mit.edu	37	10	54076171	54076171	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr10:54076171T>C	ENST00000373970.3	+	3	662	c.523T>C	c.(523-525)Tct>Cct	p.S175P	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	175					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AACCACCTTGTCTTCAAAAAT	0.368													4	74	---	---	---	---	0	0
KIF20B	9585	broad.mit.edu	37	10	91512349	91512349	+	Silent	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr10:91512349C>T	ENST00000416354.1	+	25	4410	c.4338C>T	c.(4336-4338)tgC>tgT	p.C1446C	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.C1416C|KIF20B_ENST00000260753.4_Silent_p.C1376C|KIF20B_ENST00000371728.3_Silent_p.C1416C			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1416					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGAAAAATGCAATGATTTGG	0.328													11	20	---	---	---	---	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64694285	64694285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr11:64694285G>T	ENST00000164133.2	+	3	923	c.301G>T	c.(301-303)Gag>Tag	p.E101*		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	101					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CAAGGGGAAGGAGGTGAAGCG	0.632													6	111	---	---	---	---	0	0
UBASH3B	84959	broad.mit.edu	37	11	122659912	122659912	+	Silent	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr11:122659912C>T	ENST00000284273.5	+	6	1251	c.876C>T	c.(874-876)agC>agT	p.S292S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	292	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCAGCACCAGCGAGGGTTGGA	0.527													64	153	---	---	---	---	0	0
GALNT8	26290	broad.mit.edu	37	12	4853823	4853823	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:4853823G>A	ENST00000252318.2	+	4	1154	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	273	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CACAGCAGACGTGGTCGCCAT	0.498													10	20	---	---	---	---	0	0
ARNTL2	56938	broad.mit.edu	37	12	27540209	27540209	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:27540209C>T	ENST00000544915.1	+	6	730	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	ARNTL2_ENST00000311001.5_Missense_Mutation_p.L191F|ARNTL2_ENST00000261178.5_Missense_Mutation_p.L157F|ARNTL2_ENST00000546179.1_Missense_Mutation_p.L168F|ARNTL2_ENST00000266503.5_Missense_Mutation_p.L205F|ARNTL2_ENST00000542388.1_Missense_Mutation_p.L120F|ARNTL2_ENST00000395901.2_Missense_Mutation_p.L168F	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	205					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AGGAAAAATTCTCTTCGTTTC	0.289													17	45	---	---	---	---	0	0
BMP4	652	broad.mit.edu	37	14	54417158	54417158	+	Silent	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr14:54417158G>A	ENST00000245451.4	-	4	1212	c.819C>T	c.(817-819)gtC>gtT	p.V273V	BMP4_ENST00000417573.1_Silent_p.V273V|BMP4_ENST00000559087.1_Silent_p.V273V|BMP4_ENST00000558984.1_Silent_p.V273V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	273					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GGCCAAAGGTGACCAGGAGGG	0.617													14	35	---	---	---	---	0	0
CACNB1	782	broad.mit.edu	37	17	37341091	37341091	+	Silent	SNP	C	C	G			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr17:37341091C>G	ENST00000394303.3	-	8	882	c.675G>C	c.(673-675)gtG>gtC	p.V225V	CACNB1_ENST00000344140.5_Silent_p.V270V|CACNB1_ENST00000394310.3_Silent_p.V225V	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	225					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	TGGAAGGCACCACGTCATAGG	0.602													5	54	---	---	---	---	0	0
TJP3	27134	broad.mit.edu	37	19	3731956	3731956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:3731956C>T	ENST00000541714.2	+	6	1099	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	TJP3_ENST00000539908.2_Nonsense_Mutation_p.Q177*|TJP3_ENST00000382008.3_Nonsense_Mutation_p.Q213*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.Q222*|TJP3_ENST00000262968.9_Nonsense_Mutation_p.Q232*|TJP3_ENST00000587686.1_Nonsense_Mutation_p.Q232*	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	213	PDZ 2.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGCAGTCAGATCTTCAT	0.582													24	61	---	---	---	---	0	0
PRKCSH	5589	broad.mit.edu	37	19	11559781	11559781	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:11559781G>A	ENST00000252455.2	+	15	1654	c.1318G>A	c.(1318-1320)Ggg>Agg	p.G440R	PRKCSH_ENST00000587327.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000589838.1_Missense_Mutation_p.G440R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.G447R	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	440	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ACCCAAACTCGGGGGCTCTCC	0.647													4	132	---	---	---	---	0	0
F2RL3	9002	broad.mit.edu	37	19	17000463	17000463	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:17000463C>T	ENST00000599210.1	+	2	185	c.185C>T	c.(184-186)tCc>tTc	p.S62F	F2RL3_ENST00000248076.3_Silent_p.L63L			Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	0					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCCTGGAGCTCCCGGACAGCT	0.687													5	56	---	---	---	---	0	0
B3GNT8	374907	broad.mit.edu	37	19	41932284	41932284	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr19:41932284C>T	ENST00000321702.2	-	3	853	c.400G>A	c.(400-402)Ggt>Agt	p.G134S	B3GNT8_ENST00000601379.1_5'UTR	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	134	Poly-Gly.				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						CTGCCACCACCTCCAGGCAGC	0.632													5	40	---	---	---	---	0	0
ACE2	59272	broad.mit.edu	37	X	15605910	15605910	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:15605910G>C	ENST00000427411.1	-	7	984	c.768C>G	c.(766-768)atC>atG	p.I256M	ACE2_ENST00000252519.3_Missense_Mutation_p.I256M	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	256					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAATTGGACTGATATAGGAAG	0.388													35	19	---	---	---	---	0	0
ZMYM3	9203	broad.mit.edu	37	X	70462905	70462905	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chrX:70462905G>C	ENST00000373998.1	-	22	4123	c.3426C>G	c.(3424-3426)aaC>aaG	p.N1142K	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.N1156K|ZMYM3_ENST00000353904.2_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.N1149K	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1154					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCGTGAAAATGTTCACCATCC	0.458													15	14	---	---	---	---	0	0
GRIK3	2899	broad.mit.edu	37	1	37282824	37282824	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:37282824C>A	ENST00000373091.3	-	13	1944	c.1928G>T	c.(1927-1929)tGg>tTg	p.W643L	GRIK3_ENST00000373093.4_Missense_Mutation_p.W643L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	643					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGTGAAGAACCACCAGATGCC	0.542													3	48	---	---	---	---	0	0
GBP7	388646	broad.mit.edu	37	1	89618421	89618421	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:89618421C>A	ENST00000294671.2	-	4	496	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	120						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTTAGAAGCACAGCCAGGGCA	0.468													14	29	---	---	---	---	0	0
AHCYL1	10768	broad.mit.edu	37	1	110555601	110555601	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:110555601C>A	ENST00000369799.5	+	5	927	c.560C>A	c.(559-561)gCt>gAt	p.A187D	AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A140D|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A140D	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	187					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AATGAAGTAGCTGCAGCACTG	0.443													3	28	---	---	---	---	0	0
TTC13	79573	broad.mit.edu	37	1	231060649	231060649	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:231060649C>T	ENST00000366661.4	-	14	1666	c.1659G>A	c.(1657-1659)atG>atA	p.M553I	TTC13_ENST00000414259.1_Missense_Mutation_p.M500I|TTC13_ENST00000366662.4_Missense_Mutation_p.M500I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	553							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCTTCCCATTCATTCGAACTT	0.433													34	47	---	---	---	---	0	0
HEATR1	55127	broad.mit.edu	37	1	236744591	236744591	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:236744591C>T	ENST00000366582.3	-	20	2800	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	HEATR1_ENST00000366581.2_Missense_Mutation_p.V896M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	896					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCACAGCCCACATAAAGAGCT	0.398													8	104	---	---	---	---	0	0
CPS1	1373	broad.mit.edu	37	2	211542610	211542610	+	Splice_Site	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr2:211542610G>A	ENST00000233072.5	+	38	4600		c.e38-1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TATATTTTCAGGTGACCAAAC	0.413													4	160	---	---	---	---	0	0
WDR48	57599	broad.mit.edu	37	3	39125653	39125653	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr3:39125653A>C	ENST00000302313.5	+	12	1209	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T	WDR48_ENST00000396258.3_Missense_Mutation_p.K312T|WDR48_ENST00000544962.1_Missense_Mutation_p.K119T|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	394					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAGGCATGTAAAGTTGAAGAT	0.303													9	17	---	---	---	---	0	0
BDP1	55814	broad.mit.edu	37	5	70856003	70856003	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr5:70856003G>T	ENST00000358731.4	+	37	7698	c.7435G>T	c.(7435-7437)Gct>Tct	p.A2479S	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2479					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGAACTGATGCTGCTCCTAA	0.413													3	39	---	---	---	---	0	0
VARS	7407	broad.mit.edu	37	6	31748517	31748517	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:31748517G>C	ENST00000375663.3	-	24	3202	c.2762C>G	c.(2761-2763)gCt>gGt	p.A921G	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	921					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AAACCGGAGAGCATCGGTGCC	0.602													20	32	---	---	---	---	0	0
GUCA1A	2978	broad.mit.edu	37	6	42146547	42146547	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:42146547G>A	ENST00000394237.1	+	5	1335	c.359G>A	c.(358-360)cGc>cAc	p.R120H	GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120H|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120H			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	120	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGGCCATTCGCGCCATTAAC	0.587													63	106	---	---	---	---	0	0
DST	667	broad.mit.edu	37	6	56362658	56362658	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:56362658C>T	ENST00000370754.5	-	81	19996	c.19997G>A	c.(19996-19998)cGc>cAc	p.R6666H	DST_ENST00000244364.6_Missense_Mutation_p.R4074H|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.R6488H|DST_ENST00000370788.2_Missense_Mutation_p.R4291H|DST_ENST00000446842.2_Missense_Mutation_p.R6162H|DST_ENST00000361203.3_Missense_Mutation_p.R6377H|DST_ENST00000421834.2_Missense_Mutation_p.R4400H			Q03001	DYST_HUMAN	dystonin	6486					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTCACCTGGCGCAAGGCACC	0.373													5	15	---	---	---	---	0	0
GABRR2	2570	broad.mit.edu	37	6	90024832	90024832	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:90024832A>C	ENST00000402938.3	-	1	186	c.53T>G	c.(52-54)gTg>gGg	p.V18G	GABRR2_ENST00000602399.1_Missense_Mutation_p.V43G|GABRR2_ENST00000602808.1_5'UTR	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	43					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TCTGCTCTCCACGAGAACCAT	0.478													5	159	---	---	---	---	0	0
VPS13B	157680	broad.mit.edu	37	8	100182325	100182325	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr8:100182325C>T	ENST00000395996.1	+	16	2378	c.2267C>T	c.(2266-2268)cCt>cTt	p.P756L	VPS13B_ENST00000355155.1_Missense_Mutation_p.P756L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P756L|VPS13B_ENST00000358544.2_Missense_Mutation_p.P756L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	756					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACTGCTTACCTGTACCAGTT	0.393													8	45	---	---	---	---	0	0
QSER1	79832	broad.mit.edu	37	11	32994952	32994952	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr11:32994952G>C	ENST00000399302.2	+	11	5163	c.4828G>C	c.(4828-4830)Gaa>Caa	p.E1610Q	QSER1_ENST00000527788.1_Missense_Mutation_p.E1371Q	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1610										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAATGCTTTGGAAAGTTTTCC	0.328													18	44	---	---	---	---	0	0
MYCBP2	23077	broad.mit.edu	37	13	77738587	77738587	+	Splice_Site	SNP	A	A	G			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr13:77738587A>G	ENST00000407578.2	-	43	6814		c.e43+1		MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000544440.2_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGCCACACTTACCAATAGGAA	0.368													3	31	---	---	---	---	0	0
CDC16	8881	broad.mit.edu	37	13	115016141	115016141	+	Silent	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr13:115016141G>A	ENST00000360383.3	+	12	1287	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	CDC16_ENST00000375312.3_Silent_p.L269L|CDC16_ENST00000252457.5_Silent_p.L362L|CDC16_ENST00000375310.1_Silent_p.L269L|CDC16_ENST00000375308.1_Silent_p.L269L|CDC16_ENST00000356221.3_Silent_p.L363L|CDC16_ENST00000252458.6_Silent_p.L269L	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	363					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CAGCACAGCTGATGAAAGGGT	0.433													19	18	---	---	---	---	0	0
RYR3	6263	broad.mit.edu	37	15	33895402	33895402	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:33895402C>A	ENST00000389232.4	+	18	2071	c.2001C>A	c.(1999-2001)gaC>gaA	p.D667E	RYR3_ENST00000415757.3_Missense_Mutation_p.D667E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	667	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATTATCGACCAGGTGGACC	0.567													37	91	---	---	---	---	0	0
PAQR5	54852	broad.mit.edu	37	15	69696052	69696052	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:69696052T>C	ENST00000340965.3	+	9	1552	c.884T>C	c.(883-885)aTa>aCa	p.I295T	RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.I295T|PAQR5_ENST00000561153.1_Missense_Mutation_p.I295T	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	295					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						TTCTCTCAGATAGCTGGAGCC	0.473													3	65	---	---	---	---	0	0
USP22	23326	broad.mit.edu	37	17	20922442	20922442	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr17:20922442T>A	ENST00000261497.4	-	4	678	c.475A>T	c.(475-477)Aag>Tag	p.K159*	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Nonsense_Mutation_p.K147*	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	159					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GGGTTGTGCTTCAGCAGTTCA	0.478													51	78	---	---	---	---	0	0
EFNA3	1944	broad.mit.edu	37	1	155057707	155057707	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr1:155057707T>C	ENST00000368408.3	+	2	339	c.269T>C	c.(268-270)aTg>aCg	p.M90T	EFNA3_ENST00000556931.1_Missense_Mutation_p.M85T|EFNA3_ENST00000418360.2_Missense_Mutation_p.M90T|EFNA3_ENST00000505139.1_Missense_Mutation_p.M85T	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	90					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGCTGTACATGGTGAGCCGC	0.677													5	19	---	---	---	---	0	0
STAT1	6772	broad.mit.edu	37	2	191851586	191851586	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr2:191851586C>T	ENST00000361099.3	-	14	1602	c.1215G>A	c.(1213-1215)cgG>cgA	p.R405R	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.R405R|STAT1_ENST00000392323.2_Silent_p.R407R|STAT1_ENST00000392322.3_Silent_p.R405R	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	405					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CTACCAGGTGCCGAAATTCAG	0.458													4	214	---	---	---	---	0	0
MAP2	4133	broad.mit.edu	37	2	210560413	210560413	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr2:210560413A>G	ENST00000360351.4	+	7	4025	c.3519A>G	c.(3517-3519)atA>atG	p.I1173M	MAP2_ENST00000447185.1_Missense_Mutation_p.I1169M|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1173					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAGTGGAAATACCTTGCCCAC	0.443													21	33	---	---	---	---	0	0
GRIP2	80852	broad.mit.edu	37	3	14545076	14545076	+	RNA	SNP	C	C	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:14545076C>A	ENST00000273083.3	-	0	2741							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGCCATACCTCCAGTTCCCTC	0.617													5	12	---	---	---	---	0	0
ATP2C1	27032	broad.mit.edu	37	3	130698121	130698121	+	Silent	SNP	G	G	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:130698121G>T	ENST00000510168.1	+	19	2149	c.1599G>T	c.(1597-1599)ctG>ctT	p.L533L	ATP2C1_ENST00000422190.2_Silent_p.L533L|ATP2C1_ENST00000513801.1_Silent_p.L517L|ATP2C1_ENST00000507488.2_Silent_p.L517L|ATP2C1_ENST00000328560.8_Silent_p.L533L|ATP2C1_ENST00000393221.4_Silent_p.L567L|ATP2C1_ENST00000504381.1_Silent_p.L478L|ATP2C1_ENST00000505330.1_Silent_p.L517L|ATP2C1_ENST00000508532.1_Silent_p.L533L|ATP2C1_ENST00000428331.2_Silent_p.L533L|ATP2C1_ENST00000504948.1_Silent_p.L517L|ATP2C1_ENST00000533801.2_Silent_p.L528L|ATP2C1_ENST00000359644.3_Silent_p.L533L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	533					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GTCCTGAACTGGGACAGCTGA	0.383									Hailey-Hailey disease				17	111	---	---	---	---	0	0
ZBBX	79740	broad.mit.edu	37	3	167045902	167045902	+	Silent	SNP	T	T	C			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:167045902T>C	ENST00000392766.2	-	11	1030	c.690A>G	c.(688-690)gtA>gtG	p.V230V	ZBBX_ENST00000307529.5_Silent_p.V230V|ZBBX_ENST00000392767.2_Silent_p.V230V|ZBBX_ENST00000392764.1_Silent_p.V201V|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Silent_p.V230V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	230						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGTAATTTCTACCTAATTAA	0.323													34	86	---	---	---	---	0	0
SORCS2	57537	broad.mit.edu	37	4	7741958	7741958	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr4:7741958C>T	ENST00000507866.2	+	27	3556	c.3447C>T	c.(3445-3447)aaC>aaT	p.N1149N	SORCS2_ENST00000329016.9_Silent_p.N992N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1149						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGAGCATCAACTCCCGAGAGA	0.612													7	9	---	---	---	---	0	0
GZMK	3003	broad.mit.edu	37	5	54327292	54327292	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr5:54327292G>A	ENST00000231009.2	+	4	534	c.464G>A	c.(463-465)gGa>gAa	p.G155E	CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	155	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACTGGCTGGGGAGCCACCGAT	0.443													22	49	---	---	---	---	0	0
FTMT	94033	broad.mit.edu	37	5	121187964	121187964	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr5:121187964C>T	ENST00000321339.1	+	1	315	c.306C>T	c.(304-306)tcC>tcT	p.S102S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	102	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		ATTACTTCTCCCGGGATGACG	0.577													4	47	---	---	---	---	0	0
AMZ1	155185	broad.mit.edu	37	7	2752291	2752291	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr7:2752291G>T	ENST00000312371.4	+	7	1644	c.1276G>T	c.(1276-1278)Gac>Tac	p.D426Y	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	426							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GGCAGAGGAGGACCTGGTGCA	0.697													20	6	---	---	---	---	0	0
CA9	768	broad.mit.edu	37	9	35676348	35676348	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr9:35676348C>T	ENST00000378357.4	+	5	906	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	268	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCTTGGGGCGCCCGGGAGG	0.647													5	151	---	---	---	---	0	0
IFIT2	3433	broad.mit.edu	37	10	91066938	91066938	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr10:91066938G>A	ENST00000371826.3	+	2	1394	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	409					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAGGGAGAAAGAAAAGATGAA	0.408													30	60	---	---	---	---	0	0
NELL1	4745	broad.mit.edu	37	11	20869195	20869195	+	Silent	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:20869195G>A	ENST00000298925.5	+	5	639	c.486G>A	c.(484-486)aaG>aaA	p.K162K	NELL1_ENST00000325319.5_Intron|NELL1_ENST00000357134.5_Silent_p.K134K|NELL1_ENST00000532434.1_Silent_p.K134K			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	134	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACAATGGGAAGCCAAGGACAG	0.463													13	24	---	---	---	---	0	0
LTBP3	4054	broad.mit.edu	37	11	65310638	65310638	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:65310638T>G	ENST00000301873.5	-	18	2802	c.2534A>C	c.(2533-2535)aAt>aCt	p.N845T	LTBP3_ENST00000322147.4_Missense_Mutation_p.N845T|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000536982.1_Missense_Mutation_p.N471T|LTBP3_ENST00000532932.1_Missense_Mutation_p.N275T|LTBP3_ENST00000529189.1_5'UTR	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	845	Cys-rich.|EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GTAGGAGCCATTGGTATTGAT	0.577													5	74	---	---	---	---	0	0
PDGFD	80310	broad.mit.edu	37	11	103870820	103870820	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:103870820G>T	ENST00000302251.5	-	2	721	c.270C>A	c.(268-270)gaC>gaA	p.D90E	PDGFD_ENST00000393158.2_Missense_Mutation_p.D96E	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	96	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAAACTGATTGTCAAACACTA	0.418													34	55	---	---	---	---	0	0
CD163	9332	broad.mit.edu	37	12	7653874	7653874	+	Silent	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:7653874G>A	ENST00000359156.4	-	3	520	c.318C>T	c.(316-318)tcC>tcT	p.S106S	CD163_ENST00000432237.2_Silent_p.S106S|CD163_ENST00000396620.3_Silent_p.S106S|CD163_ENST00000541972.1_Silent_p.S94S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	106	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AACCTGCACTGGAATTAGCCC	0.483													50	56	---	---	---	---	0	0
KRT86	3892	broad.mit.edu	37	12	52700020	52700020	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:52700020C>T	ENST00000293525.5	+	7	1255	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	KRT86_ENST00000423955.2_Silent_p.I401I|KRT86_ENST00000544024.1_Silent_p.I401I	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	401	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTGGACATCGAGATCGCCA	0.627											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	60	---	---	---	---	0	0
WIF1	11197	broad.mit.edu	37	12	65461530	65461530	+	Silent	SNP	A	A	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:65461530A>G	ENST00000286574.4	-	5	953	c.579T>C	c.(577-579)aaT>aaC	p.N193N		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	193	EGF-like 1.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGCGTCTTTCATTACAAAAGC	0.493			T	HMGA2	pleomorphic salivary gland adenoma								17	30	---	---	---	---	0	0
CGNL1	84952	broad.mit.edu	37	15	57731273	57731273	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr15:57731273A>C	ENST00000281282.5	+	2	1154	c.1076A>C	c.(1075-1077)aAa>aCa	p.K359T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	359	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TTAATTGAAAAATTTGATCAA	0.433													22	34	---	---	---	---	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621731	65621731	+	Silent	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr15:65621731G>A	ENST00000327987.4	-	13	2453	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	734										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACTCACTGTGGGTCTGGGGT	0.642													6	112	---	---	---	---	0	0
KIAA0753	9851	broad.mit.edu	37	17	6513363	6513363	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:6513363C>T	ENST00000361413.3	-	9	2021	c.1663G>A	c.(1663-1665)Gca>Aca	p.A555T	KIAA0753_ENST00000542606.1_Missense_Mutation_p.A256T|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A11T|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A256T	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	555						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ATCCATGGTGCCTTGCGGTCT	0.483													11	108	---	---	---	---	0	0
AC004702.2	0	broad.mit.edu	37	17	20224905	20224905	+	RNA	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:20224905C>T	ENST00000580225.1	+	0	105				CCDC144CP_ENST00000340196.4_RNA																							GGTCGGGCGACGTCCCTGGGG	0.652													6	209	---	---	---	---	0	0
RAD51D	5892	broad.mit.edu	37	17	33430506	33430506	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:33430506C>T	ENST00000345365.6	-	7	889	c.634G>A	c.(634-636)Gtt>Att	p.V212I	RAD51D_ENST00000394589.4_Missense_Mutation_p.V212I|RAD51D_ENST00000335858.7_Missense_Mutation_p.V100I|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V53I|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000360276.3_Missense_Mutation_p.V167I|RAD51D_ENST00000590016.1_Missense_Mutation_p.V232I|RAD51D_ENST00000460118.2_Missense_Mutation_p.V93I	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	212					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGTGGGGAAACCACCGCAGTG	0.582								Direct reversal of damage					13	22	---	---	---	---	0	0
ZNF652	22834	broad.mit.edu	37	17	47394509	47394509	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:47394509C>G	ENST00000362063.2	-	2	897	c.579G>C	c.(577-579)agG>agC	p.R193S	ZNF652_ENST00000430262.2_Missense_Mutation_p.R193S	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGGCAGCTCTCCTGGTTCTCC	0.493													4	85	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9046680	9046680	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:9046680G>A	ENST00000397910.4	-	5	35154	c.34951C>T	c.(34951-34953)Cct>Tct	p.P11651S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11653	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGAGAAGGAGTCAAAGTT	0.512													9	116	---	---	---	---	0	0
ZNF536	9745	broad.mit.edu	37	19	30935474	30935474	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:30935474C>T	ENST00000355537.3	+	2	1152	c.1005C>T	c.(1003-1005)aaC>aaT	p.N335N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGGCCCCAACGGCGGTGGCG	0.657													6	137	---	---	---	---	0	0
EPN1	29924	broad.mit.edu	37	19	56206217	56206217	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:56206217A>G	ENST00000411543.2	+	10	2195	c.1648A>G	c.(1648-1650)Acg>Gcg	p.T550A	EPN1_ENST00000270460.6_Missense_Mutation_p.T464A|EPN1_ENST00000085079.7_Missense_Mutation_p.T438A	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	464	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		ACCAACTCCCACGCCCCCCAC	0.716													10	11	---	---	---	---	0	0
VAPB	9217	broad.mit.edu	37	20	56993284	56993284	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr20:56993284G>A	ENST00000475243.1	+	2	414	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	VAPB_ENST00000395802.3_Missense_Mutation_p.V26I|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	26	MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			CACCGATGTTGTCACCACCAA	0.473													4	116	---	---	---	---	0	0
ITIH4	3700	broad.mit.edu	37	3	52857696	52857696	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:52857696T>C	ENST00000266041.4	-	11	1511	c.1415A>G	c.(1414-1416)aAt>aGt	p.N472S	ITIH4_ENST00000467462.1_5'UTR|ITIH4_ENST00000434759.3_Missense_Mutation_p.N384S|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Missense_Mutation_p.N472S|ITIH4_ENST00000406595.1_Missense_Mutation_p.N472S|ITIH4_ENST00000346281.5_Missense_Mutation_p.N472S	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	472					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTCCACGGCATTGCTTGGGTA	0.582													11	73	---	---	---	---	0	0
PEX5L	51555	broad.mit.edu	37	3	179529651	179529651	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:179529651C>A	ENST00000467460.1	-	11	1422	c.1092G>T	c.(1090-1092)caG>caT	p.Q364H	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q172H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q256H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q321H|PEX5L_ENST00000485199.1_Missense_Mutation_p.Q329H|PEX5L_ENST00000263962.8_Missense_Mutation_p.Q362H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q305H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q256H|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q340H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	364					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCCCGAGGAACTGCCATGCCT	0.468													9	65	---	---	---	---	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389214	1389214	+	Silent	SNP	C	C	T	rs71299249		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr4:1389214C>T	ENST00000324803.4	+	1	3875	c.915C>T	c.(913-915)tgC>tgT	p.C305C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	305					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCACACGTGCCGACGTGGAG	0.662													5	228	---	---	---	---	0	0
MTTP	4547	broad.mit.edu	37	4	100543849	100543849	+	Silent	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr4:100543849G>A	ENST00000457717.1	+	19	2785	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.K843K|MTTP_ENST00000511045.1_Silent_p.K870K	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	843					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TTGAGAAAAAGTACGAAAGGC	0.418													13	46	---	---	---	---	0	0
PCDHA12	0	broad.mit.edu	37	5	140257255	140257255	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:140257255C>T	ENST00000398631.2	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGGTGCGCGCCGGGCAAG	0.677													8	24	---	---	---	---	0	0
PCDHB12	0	broad.mit.edu	37	5	140590067	140590067	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:140590067C>T	ENST00000239450.2	+	1	1777	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		530	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGTTCCGCGTGGGCGC	0.677													22	59	---	---	---	---	0	0
CACNA2D1	781	broad.mit.edu	37	7	81667507	81667507	+	Silent	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:81667507G>A	ENST00000356860.3	-	11	1262	c.924C>T	c.(922-924)gtC>gtT	p.V308V	CACNA2D1_ENST00000356253.5_Silent_p.V308V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	308	VWFA.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CATTTGCTTGGACAAGGTGCT	0.313													4	86	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100680623	100680623	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:100680623C>T	ENST00000306151.4	+	3	5990	c.5926C>T	c.(5926-5928)Cca>Tca	p.P1976S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1976	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCCCAGC	0.498													6	362	---	---	---	---	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519011	113519011	+	Silent	SNP	T	T	C			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:113519011T>C	ENST00000284601.3	-	4	2204	c.2136A>G	c.(2134-2136)gaA>gaG	p.E712E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	712					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAGAAGACAGTTCACAGCACA	0.403													24	156	---	---	---	---	0	0
ADCK2	90956	broad.mit.edu	37	7	140373323	140373323	+	Silent	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:140373323C>T	ENST00000072869.4	+	1	371	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	ADCK2_ENST00000476491.1_Silent_p.L65L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	65						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCCTGACGTTCTGAGTCGGCG	0.726													4	16	---	---	---	---	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829413	146829413	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:146829413C>T	ENST00000361727.3	+	8	1676	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	387					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGGAGGTGCCCGGACGGCTT	0.478										HNSCC(39;0.1)			27	82	---	---	---	---	0	0
OR51L1	119682	broad.mit.edu	37	11	5020428	5020428	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr11:5020428C>A	ENST00000321543.1	+	1	216	c.216C>A	c.(214-216)gaC>gaA	p.D72E		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTGAATGACCTGGGGATGT	0.453													4	148	---	---	---	---	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123661278	123661278	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr12:123661278G>A	ENST00000606320.1	-	16	2619	c.2413C>T	c.(2413-2415)Ctt>Ttt	p.L805F	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L775F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	653					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTATGACGAAGGCTTAACATA	0.323													8	66	---	---	---	---	0	0
FBN3	84467	broad.mit.edu	37	19	8137034	8137034	+	Silent	SNP	C	C	T	rs144060152	byFrequency	TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr19:8137034C>T	ENST00000600128.1	-	63	8400	c.7986G>A	c.(7984-7986)ccG>ccA	p.P2662P	FBN3_ENST00000270509.2_Silent_p.P2662P|FBN3_ENST00000601739.1_Silent_p.P2662P			Q75N90	FBN3_HUMAN	fibrillin 3	2662						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTCTTTGTCCGGGGTGTCCT	0.667													10	116	---	---	---	---	0	0
TMPRSS2	0	broad.mit.edu	37	21	42866285	42866285	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr21:42866285G>C	ENST00000398585.3	-	3	407	c.347C>G	c.(346-348)tCa>tGa	p.S116*	TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.S79*|TMPRSS2_ENST00000332149.5_Nonsense_Mutation_p.S79*	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	79	LDL-receptor class A.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AATCCTACTTGAGGTGCACAC	0.617			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								3	18	---	---	---	---	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712837	1712837	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chrX:1712837T>A	ENST00000313871.3	+	2	678	c.482T>A	c.(481-483)cTg>cAg	p.L161Q	AKAP17A_ENST00000381261.3_Missense_Mutation_p.L161Q	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	161	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGGTTCGCCCTGAAGGAGTCG	0.642													23	117	---	---	---	---	0	0
SELENBP1	8991	broad.mit.edu	37	1	151337077	151337077	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr1:151337077G>A	ENST00000426705.2	-	12	1631	c.1487C>T	c.(1486-1488)gCc>gTc	p.A496V	SELENBP1_ENST00000447402.3_Missense_Mutation_p.A392V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A390V|SELENBP1_ENST00000368868.5_Missense_Mutation_p.A454V	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	454					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGGCAAGGGCTGGGCCAAG	0.567													4	80	---	---	---	---	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988869	154988869	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr1:154988869A>G	ENST00000368426.3	+	4	1465	c.1328A>G	c.(1327-1329)gAc>gGc	p.D443G	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D443G|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D477G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D443G	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	443					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAAGGAGGACCACCTGCAG	0.642													6	27	---	---	---	---	0	0
HOXD8	3234	broad.mit.edu	37	2	176996330	176996330	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr2:176996330T>G	ENST00000313173.4	+	2	1490	c.863T>G	c.(862-864)cTg>cGg	p.L288R	HOXD8_ENST00000548663.1_Missense_Mutation_p.L184R|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000429017.1_Missense_Mutation_p.L104R|HOXD8_ENST00000544999.1_Missense_Mutation_p.L287R|HOXD8_ENST00000450510.2_Missense_Mutation_p.L287R	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	288					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGAAGGCCTGACAAATTAA	0.433													7	26	---	---	---	---	0	0
ITGA9	3680	broad.mit.edu	37	3	37818970	37818970	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr3:37818970A>G	ENST00000264741.5	+	24	2885	c.2629A>G	c.(2629-2631)Ata>Gta	p.I877V	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	877					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTTCCACACAATATTTGCTTT	0.428													10	25	---	---	---	---	0	0
CP	1356	broad.mit.edu	37	3	148903046	148903046	+	Silent	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr3:148903046C>T	ENST00000264613.6	-	12	2527	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	755	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTAAATGATGCAGCTCCTTTT	0.428													4	152	---	---	---	---	0	0
DHX29	54505	broad.mit.edu	37	5	54558526	54558526	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr5:54558526C>T	ENST00000251636.5	-	24	3908	c.3760G>A	c.(3760-3762)Gca>Aca	p.A1254T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1254							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TGTACTTGTGCTTTGCCTTGG	0.433													8	99	---	---	---	---	0	0
PCDHA5	0	broad.mit.edu	37	5	140203041	140203041	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr5:140203041G>A	ENST00000529859.1	+	1	1681	c.1681G>A	c.(1681-1683)Gcg>Acg	p.A561T	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A561T|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A561T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1												p.A561S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCGCT	0.716													4	79	---	---	---	---	0	0
HIST1H2BM	8342	broad.mit.edu	37	6	27783060	27783060	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr6:27783060G>C	ENST00000359465.4	+	1	239	c.239G>C	c.(238-240)cGc>cCc	p.R80P		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	80					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GAAGCGTCACGCCTGGCGCAT	0.592													16	65	---	---	---	---	0	0
TRIM15	89870	broad.mit.edu	37	6	30138773	30138773	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr6:30138773G>A	ENST00000376694.4	+	6	1337	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	290	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCATCATCTGGAAATAGATTC	0.428													16	58	---	---	---	---	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575523	44575523	+	Silent	SNP	C	C	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr7:44575523C>A	ENST00000289547.4	-	5	1954	c.1899G>T	c.(1897-1899)ctG>ctT	p.L633L	NPC1L1_ENST00000423141.1_Silent_p.L633L|NPC1L1_ENST00000546276.1_Silent_p.L633L|NPC1L1_ENST00000381160.3_Silent_p.L633L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	633	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAAAGATGGGCAGGTCTTCAG	0.592													3	28	---	---	---	---	0	0
TRIM8	81603	broad.mit.edu	37	10	104414440	104414440	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr10:104414440G>A	ENST00000302424.7	+	2	723	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8							cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGACCGGCTGGAGGAGCGAGA	0.592													17	114	---	---	---	---	0	0
LUZP2	338645	broad.mit.edu	37	11	25071608	25071608	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:25071608A>C	ENST00000533227.1	+	10	819	c.532A>C	c.(532-534)Aat>Cat	p.N178H	LUZP2_ENST00000336930.6_Missense_Mutation_p.N264H	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	264	Leucine-zipper.					extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCTGGAAACAATGAGAGCTC	0.353													4	45	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92085432	92085432	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:92085432G>A	ENST00000298047.6	+	1	171	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	FAT3_ENST00000409404.2_Missense_Mutation_p.V52M|FAT3_ENST00000541502.1_Missense_Mutation_p.V52M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	52	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAATGCTACCGTGTATGAGAA	0.488										TCGA Ovarian(4;0.039)			3	30	---	---	---	---	0	0
MAP2K7	5609	broad.mit.edu	37	19	7970733	7970733	+	Silent	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr19:7970733A>G	ENST00000397983.3	+	2	225	c.165A>G	c.(163-165)caA>caG	p.Q55Q	MAP2K7_ENST00000397979.3_Intron|MAP2K7_ENST00000545011.1_Intron|MAP2K7_ENST00000397981.3_Intron			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	41					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CCCCGTCCCAACGAGCAGGTA	0.532													27	107	---	---	---	---	0	0
CLPTM1	1209	broad.mit.edu	37	19	45494556	45494556	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr19:45494556A>G	ENST00000541297.2	+	12	1903	c.1438A>G	c.(1438-1440)Agt>Ggt	p.S480G	CLPTM1_ENST00000546079.1_Missense_Mutation_p.S392G|CLPTM1_ENST00000337392.5_Missense_Mutation_p.S494G			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	494					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGCCGTCTACAGTCTTCTGTA	0.637													25	118	---	---	---	---	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673297	3673297	+	Silent	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr20:3673297G>A	ENST00000344754.4	-	15	3900	c.3901C>T	c.(3901-3903)Ctg>Ttg	p.L1301L	SIGLEC1_ENST00000202578.4_Silent_p.L1301L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1301	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCTCCTGCAGCCAACGACCG	0.657													3	12	---	---	---	---	0	0
SEL1L2	80343	broad.mit.edu	37	20	13894588	13894588	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr20:13894588G>A	ENST00000284951.5	-	5	463	c.389C>T	c.(388-390)gCc>gTc	p.A130V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.A130V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	130						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AAGTAGGTAGGCTCTGTTTCA	0.353													3	31	---	---	---	---	0	0
PASD1	139135	broad.mit.edu	37	X	150840968	150840968	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chrX:150840968A>G	ENST00000370357.4	+	14	1996	c.1751A>G	c.(1750-1752)cAg>cGg	p.Q584R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	584						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGGGTGCAGATATGCCTG	0.532													12	17	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158639553	158639553	+	Silent	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr1:158639553T>C	ENST00000368147.4	-	13	1803	c.1623A>G	c.(1621-1623)aaA>aaG	p.K541K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACCAATCAATTTGGTTGCAG	0.418													103	170	---	---	---	---	0	0
PDIA6	10130	broad.mit.edu	37	2	10929048	10929048	+	Silent	SNP	A	A	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:10929048A>T	ENST00000404371.2	-	11	1393	c.1056T>A	c.(1054-1056)gcT>gcA	p.A352A	PDIA6_ENST00000272227.3_Silent_p.A300A|PDIA6_ENST00000381611.4_Silent_p.A305A|PDIA6_ENST00000404824.2_Silent_p.A348A|PDIA6_ENST00000540494.1_Silent_p.A297A	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	300					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GGGGCAGCACAGCCACAACAC	0.463													50	81	---	---	---	---	0	0
CD207	50489	broad.mit.edu	37	2	71058862	71058862	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:71058862T>C	ENST00000410009.3	-	5	851	c.806A>G	c.(805-807)gAc>gGc	p.D269G		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	269	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GAATGGCGTGTCATCCACCCA	0.572													33	30	---	---	---	---	0	0
DGUOK	1716	broad.mit.edu	37	2	74166089	74166089	+	Missense_Mutation	SNP	G	G	T	rs140307681		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:74166089G>T	ENST00000264093.4	+	2	280	c.195G>T	c.(193-195)tgG>tgT	p.W65C	DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Missense_Mutation_p.W65C	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	65					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						ACCCAGAATGGCACGTAGCTA	0.473													4	62	---	---	---	---	0	0
REV1	51455	broad.mit.edu	37	2	100055181	100055181	+	Silent	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:100055181C>T	ENST00000258428.3	-	6	1323	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	REV1_ENST00000393445.3_Silent_p.K365K|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	365					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAATTCACACTTCCACATTG	0.383								Direct reversal of damage					18	137	---	---	---	---	0	0
RBM44	375316	broad.mit.edu	37	2	238726721	238726721	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:238726721G>T	ENST00000316997.4	+	3	1294	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y	RBM44_ENST00000409864.1_Missense_Mutation_p.D388Y|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	387							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTTTTTGATGATTCGATAAT	0.403													15	49	---	---	---	---	0	0
EPHA3	2042	broad.mit.edu	37	3	89457246	89457246	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:89457246C>A	ENST00000336596.2	+	9	1952	c.1727C>A	c.(1726-1728)gCa>gAa	p.A576E	EPHA3_ENST00000494014.1_Missense_Mutation_p.A576E	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	576						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAACATGGGGCAGATGAAAAA	0.353										TSP Lung(6;0.00050)			21	131	---	---	---	---	0	0
UBE2D3	7323	broad.mit.edu	37	4	103720584	103720584	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:103720584G>T	ENST00000453744.2	-	7	891	c.378C>A	c.(376-378)atC>atA	p.I126I	UBE2D3_ENST00000394803.5_Silent_p.I126I|UBE2D3_ENST00000504211.1_Silent_p.I97I|UBE2D3_ENST00000338145.3_Silent_p.I126I|UBE2D3_ENST00000357194.6_Silent_p.I128I|UBE2D3_ENST00000321805.7_Silent_p.I126I|UBE2D3_ENST00000349311.8_Silent_p.I126I|UBE2D3_ENST00000502404.1_Silent_p.I97I|UBE2D3_ENST00000394801.4_Silent_p.I126I|UBE2D3_ENST00000394804.2_Silent_p.I126I|UBE2D3_ENST00000343106.5_Silent_p.I126I|UBE2D3_ENST00000505207.1_Silent_p.I97I|UBE2D3_ENST00000507845.1_Silent_p.I97I|UBE2D3_ENST00000350435.7_Silent_p.I120I	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	126					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		CTGTTTTATAGATCCGTGCAA	0.358													9	37	---	---	---	---	0	0
CENPE	1062	broad.mit.edu	37	4	104030222	104030222	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:104030222C>A	ENST00000265148.3	-	48	7838	c.7749G>T	c.(7747-7749)gaG>gaT	p.E2583D	CENPE_ENST00000380026.3_Missense_Mutation_p.E2462D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2583	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAGTTTTGACCTCATTGGAAA	0.353													4	65	---	---	---	---	0	0
OFCC1	266553	broad.mit.edu	37	6	9933495	9933495	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:9933495T>A	ENST00000316020.6	-	3	262	c.263A>T	c.(262-264)aAg>aTg	p.K88M	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TTCAGCCGACTTGGATTTCTT	0.368													11	53	---	---	---	---	0	0
TNXB	7148	broad.mit.edu	37	6	32036414	32036414	+	Silent	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:32036414C>T	ENST00000375244.3	-	17	6174	c.5973G>A	c.(5971-5973)ggG>ggA	p.G1991G	TNXB_ENST00000375247.2_Silent_p.G1991G			P22105	TENX_HUMAN	tenascin XB	2073	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGTCAGCTCCCCCAGGCGAG	0.612													7	76	---	---	---	---	0	0
MOXD1	26002	broad.mit.edu	37	6	132722436	132722436	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:132722436G>A	ENST00000367963.3	-	1	248	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	MOXD1_ENST00000392401.3_Missense_Mutation_p.R44W	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	44	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TGGCTGCCCCGCTGGCTCCAG	0.731													3	15	---	---	---	---	0	0
ARID1B	57492	broad.mit.edu	37	6	157150545	157150545	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:157150545C>T	ENST00000346085.5	+	2	1728	c.1727C>T	c.(1726-1728)cCt>cTt	p.P576L	ARID1B_ENST00000367148.1_Missense_Mutation_p.P576L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P576L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P518L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	576	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATGCAGTACCCTCAGCAGCAG	0.542													4	45	---	---	---	---	0	0
ARID1B	57492	broad.mit.edu	37	6	157150550	157150550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:157150550C>T	ENST00000346085.5	+	2	1733	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q520*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	578	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTACCCTCAGCAGCAGGTTTG	0.547													4	45	---	---	---	---	0	0
FAM126A	84668	broad.mit.edu	37	7	22985646	22985646	+	Silent	SNP	A	A	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:22985646A>G	ENST00000432176.2	-	11	1360	c.1128T>C	c.(1126-1128)agT>agC	p.S376S	FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	376						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TCTTTCCTATACTTGGCTTGT	0.423													67	139	---	---	---	---	0	0
DGKI	9162	broad.mit.edu	37	7	137294314	137294314	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:137294314G>T	ENST00000453654.2	-	9	674	c.135C>A	c.(133-135)agC>agA	p.S45R	DGKI_ENST00000288490.5_Missense_Mutation_p.S345R|DGKI_ENST00000446122.1_Missense_Mutation_p.S345R|DGKI_ENST00000424189.2_Missense_Mutation_p.S345R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTCTTTTAAAGCTTGTTCTCT	0.438													8	42	---	---	---	---	0	0
SDAD1P1	0	broad.mit.edu	37	8	26239000	26239000	+	RNA	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr8:26239000G>C	ENST00000519902.1	-	0	948																											CTGCAGTCAGGTTGCTGGGCA	0.488													5	15	---	---	---	---	0	0
OLFM1	10439	broad.mit.edu	37	9	138011425	138011425	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:138011425G>A	ENST00000252854.4	+	6	992	c.805G>A	c.(805-807)Gac>Aac	p.D269N	OLFM1_ENST00000371796.3_Missense_Mutation_p.D260N|OLFM1_ENST00000371793.3_Missense_Mutation_p.D287N	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	287	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CATGAACACGGACAATTTCAC	0.547													32	60	---	---	---	---	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343826	38343826	+	Silent	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr10:38343826T>C	ENST00000374618.3	+	5	952	c.774T>C	c.(772-774)gaT>gaC	p.D258D	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.D257D|ZNF33A_ENST00000432900.2_Silent_p.D264D|ZNF33A_ENST00000307441.9_Silent_p.D257D	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	257						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTTTGTGTGATAGTTCATCCC	0.388													11	64	---	---	---	---	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			37	91	---	---	---	---	0	0
OR5L1	219437	broad.mit.edu	37	11	55579666	55579666	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:55579666G>T	ENST00000333973.2	+	1	813	c.724G>T	c.(724-726)Gct>Tct	p.A242S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCCACCTGTGCTTCCCACCT	0.512													25	109	---	---	---	---	0	0
NALCN	259232	broad.mit.edu	37	13	102029302	102029302	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr13:102029302C>G	ENST00000251127.6	-	5	562	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.E161Q|NALCN_ENST00000376196.3_Missense_Mutation_p.E161Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	161						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGGCAGTTCAAATCGGAAA	0.373													11	60	---	---	---	---	0	0
SNW1	22938	broad.mit.edu	37	14	78205374	78205374	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr14:78205374G>A	ENST00000261531.7	-	4	423	c.361C>T	c.(361-363)Cca>Tca	p.P121S	SNW1_ENST00000555761.1_Missense_Mutation_p.P121S|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	121					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACCTCCTTTGGAACCAGGTCA	0.383													30	346	---	---	---	---	0	0
DLL4	54567	broad.mit.edu	37	15	41229089	41229089	+	Missense_Mutation	SNP	A	A	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:41229089A>C	ENST00000249749.5	+	9	2180	c.1904A>C	c.(1903-1905)gAc>gCc	p.D635A		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	635					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCCACAGTGACAAGAGCTTA	0.602													17	7	---	---	---	---	0	0
FAM227B	196951	broad.mit.edu	37	15	49800527	49800527	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:49800527C>A	ENST00000299338.6	-	11	1196	c.893G>T	c.(892-894)gGc>gTc	p.G298V	FAM227B_ENST00000561064.1_Missense_Mutation_p.G264V	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		GATCCAAAAGCCTTTTTGAGG	0.313													24	35	---	---	---	---	0	0
TELO2	9894	broad.mit.edu	37	16	1556317	1556317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:1556317C>T	ENST00000262319.6	+	17	2392	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	705						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCCCCTCCTTCAGCGCTTTGA	0.637													10	82	---	---	---	---	0	0
PAQR4	124222	broad.mit.edu	37	16	3019808	3019808	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:3019808C>G	ENST00000318782.8	+	1	563	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.L45V|PAQR4_ENST00000572687.1_Missense_Mutation_p.L45V|PKMYT1_ENST00000571102.1_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	45						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCTCTTCTACCTGCACAACGA	0.697													3	38	---	---	---	---	0	0
PAQR4	124222	broad.mit.edu	37	16	3021853	3021853	+	Silent	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:3021853C>T	ENST00000318782.8	+	3	1156	c.726C>T	c.(724-726)atC>atT	p.I242I	PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Silent_p.I175I|PAQR4_ENST00000293978.8_Silent_p.I203I|PAQR4_ENST00000572687.1_Silent_p.I168I|PAQR4_ENST00000574988.1_Silent_p.I175I	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	242						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCCACCAGATCATGCACCTGC	0.677													7	39	---	---	---	---	0	0
COQ7	10229	broad.mit.edu	37	16	19089458	19089458	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:19089458T>C	ENST00000321998.5	+	6	698	c.632T>C	c.(631-633)aTa>aCa	p.I211T	COQ7_ENST00000569127.1_Missense_Mutation_p.I188T|COQ7_ENST00000568985.1_Missense_Mutation_p.I211T|COQ7_ENST00000544894.2_Missense_Mutation_p.I173T	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	211	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						AGAGTGGCGATATATTTATCA	0.388													8	47	---	---	---	---	0	0
USP31	57478	broad.mit.edu	37	16	23080883	23080883	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:23080883G>A	ENST00000219689.7	-	16	2542	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	USP31_ENST00000567975.1_Missense_Mutation_p.S141F	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	848	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AGAAGATCTGGATGACAAACT	0.468													9	49	---	---	---	---	0	0
SCNN1B	0	broad.mit.edu	37	16	23364121	23364121	+	Splice_Site	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:23364121G>T	ENST00000343070.2	+	3	487		c.e3-1		SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000569789.1_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit						excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCCATCCAGGTATTCCAAA	0.502													8	104	---	---	---	---	0	0
ITGA2B	3674	broad.mit.edu	37	17	42455141	42455141	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:42455141G>T	ENST00000262407.5	-	21	2143	c.2112C>A	c.(2110-2112)atC>atA	p.I704I	ITGA2B_ENST00000353281.4_Silent_p.I704I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	704					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TCTGATTACAGATGAGTCTCT	0.478													7	52	---	---	---	---	0	0
MKS1	54903	broad.mit.edu	37	17	56291167	56291167	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:56291167G>C	ENST00000393119.2	-	7	782	c.708C>G	c.(706-708)atC>atG	p.I236M	MKS1_ENST00000337050.7_Missense_Mutation_p.I236M|MKS1_ENST00000537529.2_Missense_Mutation_p.I226M|MKS1_ENST00000313863.6_Missense_Mutation_p.I236M|MKS1_ENST00000546108.1_Missense_Mutation_p.I33M	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	236					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTTTACTGTGATCACACCAT	0.478													28	37	---	---	---	---	0	0
PRKCA	5578	broad.mit.edu	37	17	64683317	64683317	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:64683317T>A	ENST00000413366.3	+	6	644	c.618T>A	c.(616-618)aaT>aaA	p.N206K		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	206	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ATCCCAAGAATGAAAGCAAGC	0.408													62	124	---	---	---	---	0	0
ABCA5	23461	broad.mit.edu	37	17	67300814	67300814	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67300814G>A	ENST00000392676.3	-	7	990	c.926C>T	c.(925-927)tCa>tTa	p.S309L	ABCA5_ENST00000588877.1_Missense_Mutation_p.S309L|ABCA5_ENST00000392677.2_Missense_Mutation_p.S309L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	309					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACTTACAGATGATAATCCATA	0.323													5	34	---	---	---	---	0	0
ABCA5	23461	broad.mit.edu	37	17	67300891	67300891	+	Silent	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67300891G>C	ENST00000392676.3	-	7	913	c.849C>G	c.(847-849)gtC>gtG	p.V283V	ABCA5_ENST00000588877.1_Silent_p.V283V|ABCA5_ENST00000392677.2_Silent_p.V283V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	283					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTGTCGCAATGACTGCCATAA	0.323													13	73	---	---	---	---	0	0
ABCA5	23461	broad.mit.edu	37	17	67309242	67309242	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67309242G>C	ENST00000392676.3	-	3	362	c.298C>G	c.(298-300)Cta>Gta	p.L100V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L100V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L100V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	100					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCATCAGGTAGATGATCAGTA	0.313													8	69	---	---	---	---	0	0
ABCA5	23461	broad.mit.edu	37	17	67309305	67309305	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67309305G>C	ENST00000392676.3	-	3	299	c.235C>G	c.(235-237)Ctt>Gtt	p.L79V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L79V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L79V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	79					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GTATATCCAAGAATTAGATTA	0.318													7	66	---	---	---	---	0	0
RAB37	326624	broad.mit.edu	37	17	72741156	72741156	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:72741156G>A	ENST00000340415.3	+	8	1487	c.478G>A	c.(478-480)Gtt>Att	p.V160I	RAB37_ENST00000392612.3_Missense_Mutation_p.V130I|RAB37_ENST00000392613.5_Missense_Mutation_p.V167I|RAB37_ENST00000402449.4_Missense_Mutation_p.V160I|RAB37_ENST00000528438.1_Missense_Mutation_p.V140I|RAB37_ENST00000392614.4_Missense_Mutation_p.V172I|RAB37_ENST00000392615.5_Missense_Mutation_p.V135I|RAB37_ENST00000392610.1_Missense_Mutation_p.V167I	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	167					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAGTACGGTGTTCCCTTCCT	0.617											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	65	---	---	---	---	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586948	15586948	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:15586948G>T	ENST00000292609.4	-	2	662	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P178Q			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	178					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGACATCTGGAGAGCCATC	0.542													7	127	---	---	---	---	0	0
FUT2	2524	broad.mit.edu	37	19	49207194	49207194	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:49207194G>T	ENST00000425340.2	+	2	1098	c.981G>T	c.(979-981)ctG>ctT	p.L327L	FUT2_ENST00000391876.4_Silent_p.L327L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	327					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CAGCCTTCCTGCCGGAGTGGA	0.567													18	97	---	---	---	---	0	0
PPFIA3	8541	broad.mit.edu	37	19	49633700	49633700	+	Silent	SNP	C	C	T	rs142815673	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:49633700C>T	ENST00000334186.4	+	7	1072	c.723C>T	c.(721-723)gcC>gcT	p.A241A	PPFIA3_ENST00000602351.1_Silent_p.A241A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	241						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGAGGAGGCCCTGGAGCGGC	0.687													4	11	---	---	---	---	0	0
TRMT6	51605	broad.mit.edu	37	20	5931051	5931051	+	Translation_Start_Site	SNP	T	T	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr20:5931051T>A	ENST00000203001.2	-	1	131	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	1					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						GAGCCCTCCATGACGCTCAGC	0.677													8	33	---	---	---	---	0	0
DNAJC16	23341	broad.mit.edu	37	1	15892459	15892459	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:15892459C>G	ENST00000375847.3	+	12	1808	c.1644C>G	c.(1642-1644)ttC>ttG	p.F548L	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.F548L|DNAJC16_ENST00000375838.1_Missense_Mutation_p.F548L	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	548					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGCCCTCTTCATCCTCTTCG	0.443													74	258	---	---	---	---	0	0
UBAP2L	9898	broad.mit.edu	37	1	154224082	154224082	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:154224082C>A	ENST00000428931.1	+	14	1784	c.1617C>A	c.(1615-1617)agC>agA	p.S539R	UBAP2L_ENST00000271877.7_Missense_Mutation_p.S550R|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S539R|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S539R	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	539					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACCACGAGCGCCTCTTCAA	0.493													3	98	---	---	---	---	0	0
NUP210	23225	broad.mit.edu	37	3	13438886	13438886	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:13438886T>C	ENST00000254508.5	-	3	489	c.407A>G	c.(406-408)gAg>gGg	p.E136G		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	136					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GATCTTCAGCTCCAGGGGGGA	0.602													19	41	---	---	---	---	0	0
COL7A1	1294	broad.mit.edu	37	3	48623134	48623134	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:48623134G>T	ENST00000328333.8	-	30	3927	c.3820C>A	c.(3820-3822)Cct>Act	p.P1274T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1274T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1274	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGAGGCCAGGGTCGCCAGGA	0.607													53	123	---	---	---	---	0	0
RASSF1	11186	broad.mit.edu	37	3	50369518	50369518	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:50369518T>C	ENST00000359365.4	-	3	531	c.425A>G	c.(424-426)tAc>tGc	p.Y142C	RASSF1_ENST00000327761.3_Missense_Mutation_p.Y72C|RASSF1_ENST00000357043.2_Missense_Mutation_p.Y146C|RASSF1_ENST00000395126.3_5'UTR	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	146					cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGGGCATTGTACTCCTTGAT	0.557													3	103	---	---	---	---	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895492	42895492	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:42895492G>A	ENST00000399770.2	+	1	209	c.209G>A	c.(208-210)gGt>gAt	p.G70D		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	70					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAGTCAGAAGGTGATGAGAAT	0.463													4	154	---	---	---	---	0	0
SPATA18	132671	broad.mit.edu	37	4	52944970	52944970	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:52944970T>A	ENST00000295213.4	+	8	1464	c.1090T>A	c.(1090-1092)Tct>Act	p.S364T	SPATA18_ENST00000419395.2_Missense_Mutation_p.S332T	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	364					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTTGACACCATCTTATGTGGG	0.378													6	111	---	---	---	---	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066349	70066349	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:70066349C>A	ENST00000446444.1	-	6	1407	c.1399G>T	c.(1399-1401)Gtc>Ttc	p.V467F	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	467					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGGGCATGACAAATTCAATC	0.438													27	99	---	---	---	---	0	0
HELQ	113510	broad.mit.edu	37	4	84368107	84368107	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:84368107T>C	ENST00000295488.3	-	4	1435	c.1273A>G	c.(1273-1275)Act>Gct	p.T425A	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	425	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTCTTTTAGTTGGAGGAAAT	0.353								Other identified genes with known or suspected DNA repair function					12	48	---	---	---	---	0	0
TENM3	55714	broad.mit.edu	37	4	183675933	183675933	+	Silent	SNP	C	C	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:183675933C>T	ENST00000511685.1	+	22	4536	c.4413C>T	c.(4411-4413)ctC>ctT	p.L1471L	TENM3_ENST00000406950.2_Silent_p.L1471L|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		ATGCCAAACTCAGTGCCCCAT	0.498													14	46	---	---	---	---	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490469	141490469	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:141490469A>G	ENST00000247883.4	+	1	453	c.308A>G	c.(307-309)tAt>tGt	p.Y103C		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	103					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					AGTGTCTTCTATTGCAAGAAG	0.517													11	28	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151970814	151970814	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:151970814G>T	ENST00000355193.2	-	7	1206	c.988C>A	c.(988-990)Cac>Aac	p.H330N	KMT2C_ENST00000262189.6_Missense_Mutation_p.H330N					lysine (K)-specific methyltransferase 2C																		TGGTCAATGTGTTCTGGACAA	0.393													4	196	---	---	---	---	0	0
EN2	2020	broad.mit.edu	37	7	155255151	155255151	+	Silent	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:155255151G>A	ENST00000297375.4	+	2	1020	c.771G>A	c.(769-771)caG>caA	p.Q257Q		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	257						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTGCAGAGGCTCAAGG	0.592													12	52	---	---	---	---	0	0
LPPR1	0	broad.mit.edu	37	9	104086314	104086314	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr9:104086314C>A	ENST00000374874.3	+	8	1392	c.953C>A	c.(952-954)tCt>tAt	p.S318Y	LPPR1_ENST00000395056.2_Missense_Mutation_p.S318Y	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		318						integral to membrane	catalytic activity										CAGAATCACTCTGCGTCCATG	0.418													4	47	---	---	---	---	0	0
PLCE1	51196	broad.mit.edu	37	10	95849072	95849072	+	Missense_Mutation	SNP	A	A	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr10:95849072A>T	ENST00000371375.1	+	1	221	c.221A>T	c.(220-222)gAg>gTg	p.E74V	PLCE1_ENST00000371380.3_Intron|PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.E74V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	0					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCGCTCTCTGAGGTACCCAAT	0.512													6	79	---	---	---	---	0	0
ADAM12	8038	broad.mit.edu	37	10	128019054	128019054	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr10:128019054C>G	ENST00000368679.4	-	2	422	c.113G>C	c.(112-114)aGa>aCa	p.R38T	ADAM12_ENST00000368676.4_Missense_Mutation_p.R38T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	38					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTCATCAGCTCTTCCTTGGTT	0.458													20	89	---	---	---	---	0	0
CPSF7	79869	broad.mit.edu	37	11	61196740	61196740	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr11:61196740T>C	ENST00000340437.4	-	2	177	c.97A>G	c.(97-99)Atc>Gtc	p.I33V	CPSF7_ENST00000448745.1_5'UTR|CPSF7_ENST00000541963.1_5'UTR|CPSF7_ENST00000394888.4_5'UTR|CPSF7_ENST00000439958.3_5'UTR	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	0					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GTCCGGAGGATGGACAAAGTA	0.502													18	61	---	---	---	---	0	0
PRKAG1	5571	broad.mit.edu	37	12	49399105	49399105	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr12:49399105T>C	ENST00000548065.1	-	5	749	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Y107C|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Y47C|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Y66C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Y14C			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	98	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						TGATTTATAGTAGCGGTGCAG	0.478													26	80	---	---	---	---	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21790127	21790127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr14:21790127G>T	ENST00000206660.6	+	13	1726	c.1726G>T	c.(1726-1728)Gaa>Taa	p.E576*	RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E218*|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.E576*			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	576					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAAGCAGCTGGAAGGTATTTT	0.443													5	26	---	---	---	---	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12847399	12847399	+	Silent	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr17:12847399G>A	ENST00000379672.5	+	10	1047	c.747G>A	c.(745-747)gaG>gaA	p.E249E	ARHGAP44_ENST00000340825.3_Silent_p.E249E|ARHGAP44_ENST00000262444.9_Silent_p.E249E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	249	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCTGGGTAGAGAAGCCTTCCT	0.572													3	13	---	---	---	---	0	0
CENPB	1059	broad.mit.edu	37	20	3766889	3766889	+	Missense_Mutation	SNP	A	A	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr20:3766889A>T	ENST00000379751.4	-	1	448	c.242T>A	c.(241-243)cTc>cAc	p.L81H		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	81	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCAGGCGATGAGCAAGCCCTC	0.652													21	44	---	---	---	---	0	0
ZRSR2	8233	broad.mit.edu	37	X	15809137	15809137	+	Splice_Site	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrX:15809137G>T	ENST00000307771.7	+	2	145		c.e2+1		ZRSR2_ENST00000468028.1_Splice_Site|ZRSR2_ENST00000380308.3_Splice_Site	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2						spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AGAGACTCAGGTGATGGACTC	0.458			"""F, S, Mis"""		"""MDS, CLL"""								6	13	---	---	---	---	0	0
MT-RNR2	0	broad.mit.edu	37	M	2622	2622	+	RNA	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrM:2622G>A	ENST00000387347.2	+	0	952					NR_039705.1																						tccttaaatagggacctgtat	0.507													14	6	---	---	---	---	0	0
MT-ND4	4538	broad.mit.edu	37	M	11383	11383	+	Silent	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrM:11383T>C	ENST00000361381.2	+	1	624	c.624T>C	c.(622-624)ccT>ccC	p.P208P						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						GTAAAGATACCTCTTTACGGA	0.433													6	5	---	---	---	---	0	0
HIST2H2BA	0	broad.mit.edu	37	1	120906148	120906148	+	RNA	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:120906148G>T	ENST00000430394.1	+	0	121					NR_027337.1																						CAGCCGCAAGGAGAGCTACTC	0.582													73	79	---	---	---	---	0	0
SELE	6401	broad.mit.edu	37	1	169696555	169696555	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:169696555T>C	ENST00000333360.7	-	10	1719	c.1580A>G	c.(1579-1581)aAt>aGt	p.N527S	SELE_ENST00000367782.4_Missense_Mutation_p.N464S|SELE_ENST00000367774.1_Missense_Mutation_p.N401S|SELE_ENST00000367779.4_Missense_Mutation_p.N401S|SELE_ENST00000367775.1_Missense_Mutation_p.N402S|SELE_ENST00000367776.1_Missense_Mutation_p.N464S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.N464S|SELE_ENST00000367780.4_Missense_Mutation_p.N402S|SELE_ENST00000367777.1_Missense_Mutation_p.N464S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	527	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGCAGAGCCATTGAGCGTCCA	0.552													6	69	---	---	---	---	0	0
PXDN	7837	broad.mit.edu	37	2	1677528	1677528	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:1677528A>G	ENST00000252804.4	-	9	955	c.905T>C	c.(904-906)cTg>cCg	p.L302P	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	302	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGATCATCAGGGTCCCATC	0.502													3	137	---	---	---	---	0	0
C2orf42	54980	broad.mit.edu	37	2	70408850	70408850	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:70408850C>T	ENST00000264434.2	-	3	647	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	C2orf42_ENST00000420306.1_Missense_Mutation_p.V90M|C2orf42_ENST00000470096.1_5'UTR	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	90										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CCGAGCTCCACAAAGCATCGG	0.522													8	75	---	---	---	---	0	0
TNS1	7145	broad.mit.edu	37	2	218673380	218673380	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:218673380C>T	ENST00000171887.4	-	31	5428	c.4976G>A	c.(4975-4977)cGc>cAc	p.R1659H	TNS1_ENST00000430930.1_Missense_Mutation_p.R1638H|TNS1_ENST00000419504.1_Missense_Mutation_p.R1645H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1659						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGGTAGTGGCGTCTGAAAAA	0.502													21	105	---	---	---	---	0	0
IL7R	3575	broad.mit.edu	37	5	35871289	35871289	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr5:35871289C>A	ENST00000303115.3	+	4	640	c.511C>A	c.(511-513)Cag>Aag	p.Q171K	IL7R_ENST00000343305.4_Missense_Mutation_p.Q171K|IL7R_ENST00000506850.1_Missense_Mutation_p.Q171K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	171	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGCTTACCGCCAGGAAAAGGA	0.348			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						5	44	---	---	---	---	0	0
EFNA5	1946	broad.mit.edu	37	5	106723460	106723460	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr5:106723460G>A	ENST00000333274.6	-	3	712	c.431C>T	c.(430-432)cCa>cTa	p.P144L	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Missense_Mutation_p.P144L	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	144					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TCCATTATCTGGGATTGCAGA	0.423													15	80	---	---	---	---	0	0
TBCC	6903	broad.mit.edu	37	6	42713803	42713803	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:42713803G>A	ENST00000244625.2	-	2	572	c.9C>T	c.(7-9)tcC>tcT	p.S3S	TBCC_ENST00000372876.1_Silent_p.S3S			Q15814	TBCC_HUMAN	tubulin folding cofactor C	3					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	p.S3S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGCAACTGACGGACTCCATAT	0.617													19	44	---	---	---	---	0	0
GCM1	8521	broad.mit.edu	37	6	53010374	53010374	+	Silent	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:53010374A>G	ENST00000259803.7	-	2	268	c.57T>C	c.(55-57)aaT>aaC	p.N19N		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	19						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GTTTCACATCATTAATATCCC	0.423													3	112	---	---	---	---	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378577	31378577	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:31378577G>A	ENST00000297142.3	-	2	628	c.306C>T	c.(304-306)cgC>cgT	p.R102R		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	102					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGTTCCTCTCGCGCGCGTTCG	0.473													14	137	---	---	---	---	0	0
ABCA13	154664	broad.mit.edu	37	7	48266917	48266917	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:48266917C>T	ENST00000435803.1	+	6	551	c.527C>T	c.(526-528)cCt>cTt	p.P176L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	176					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATCAGCAGCCTCATATCTGG	0.433													14	103	---	---	---	---	0	0
PRDM14	63978	broad.mit.edu	37	8	70981761	70981761	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr8:70981761G>A	ENST00000276594.2	-	2	536	c.335C>T	c.(334-336)cCg>cTg	p.P112L		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CAGGAAGGGCGGCACTTCCCT	0.627													11	8	---	---	---	---	0	0
A1CF	29974	broad.mit.edu	37	10	52595833	52595833	+	Splice_Site	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr10:52595833C>A	ENST00000374001.2	-	5	744		c.e5+1		A1CF_ENST00000373993.1_Splice_Site|A1CF_ENST00000395489.2_Splice_Site|A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000282641.2_Splice_Site			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGATTGCTAACCTGGTAGCAG	0.463													29	49	---	---	---	---	0	0
MKI67	4288	broad.mit.edu	37	10	129905901	129905901	+	Silent	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr10:129905901C>T	ENST00000368654.3	-	13	4578	c.4203G>A	c.(4201-4203)caG>caA	p.Q1401Q	MKI67_ENST00000368653.3_Silent_p.Q1041Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1401	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGCTCCTTCTGTACGTCCC	0.493													4	205	---	---	---	---	0	0
OR51G1	79324	broad.mit.edu	37	11	4945119	4945119	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:4945119C>A	ENST00000321961.2	-	1	518	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCTAAGCACTGAGCTTAGC	0.532													34	35	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62289690	62289690	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:62289690T>A	ENST00000378024.4	-	5	12473	c.12199A>T	c.(12199-12201)Aaa>Taa	p.K4067*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4067					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGCTGAATTTGGGCATTTTC	0.493													31	265	---	---	---	---	0	0
OR6C76	390326	broad.mit.edu	37	12	55820867	55820867	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:55820867C>G	ENST00000328314.3	+	1	830	c.830C>G	c.(829-831)tCt>tGt	p.S277C		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCAATACCTCTGTCGCTCCT	0.378													22	29	---	---	---	---	0	0
MYF5	4617	broad.mit.edu	37	12	81110950	81110950	+	Silent	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:81110950G>T	ENST00000228644.3	+	1	260	c.108G>T	c.(106-108)gtG>gtT	p.V36V		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	36					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGCCGCGAGTGGCTGCCTTCG	0.612													10	13	---	---	---	---	0	0
HNF1A	6927	broad.mit.edu	37	12	121434123	121434123	+	Silent	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:121434123C>T	ENST00000257555.6	+	5	1240	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000541395.1_Silent_p.G338G			P20823	HNF1A_HUMAN	HNF1 homeobox A	338					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622									Hepatic Adenoma, Familial Clustering of				29	118	---	---	---	---	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124241431	124241431	+	Missense_Mutation	SNP	T	T	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:124241431T>G	ENST00000330342.3	+	19	2611	c.2363T>G	c.(2362-2364)tTg>tGg	p.L788W	ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.L70W	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	788					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TATGGCGTCTTGCTACTGCTC	0.552													9	127	---	---	---	---	0	0
JPH4	84502	broad.mit.edu	37	14	24040359	24040359	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:24040359G>A	ENST00000397118.3	-	6	2483	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	JPH4_ENST00000356300.4_Silent_p.D527D|JPH4_ENST00000544177.1_Silent_p.D192D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	527					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTGGGGAACCGTCTCTGGGCC	0.667													72	173	---	---	---	---	0	0
SAV1	60485	broad.mit.edu	37	14	51132328	51132328	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:51132328G>A	ENST00000324679.4	-	2	467	c.104C>T	c.(103-105)cCt>cTt	p.P35L		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	35					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GATGAATGAAGGCATAAGATC	0.358													5	16	---	---	---	---	0	0
DNM1P34	0	broad.mit.edu	37	15	75594869	75594869	+	RNA	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:75594869C>T	ENST00000567292.1	-	0	437																											CATGAGGTCCCACACGGTCTT	0.587													5	35	---	---	---	---	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748639	79748639	+	Silent	SNP	C	C	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:79748639C>G	ENST00000305428.3	+	2	225	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	50						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAAGTGTGCTCTTCTACACAG	0.458													49	60	---	---	---	---	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66770148	66770148	+	Splice_Site	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr16:66770148C>T	ENST00000258198.2	-	5	736		c.e5-1		DYNC1LI2_ENST00000440564.2_Splice_Site|DYNC1LI2_ENST00000443351.2_Splice_Site|DYNC1LI2_ENST00000379482.2_Splice_Site	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2						transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TCTTTCACAACTGGGGGAAAA	0.393													17	4	---	---	---	---	0	0
OR3A2	4995	broad.mit.edu	37	17	3181633	3181633	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:3181633G>A	ENST00000408891.2	-	1	635	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	199					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GTTGGGTGCTGGAGCAGGAGA	0.552													21	68	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:7577566T>C	ENST00000420246.2	-	7	847	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGAACTGTTACACATGTAG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			37	43	---	---	---	---	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319343	21319343	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:21319343C>T	ENST00000583088.1	+	3	1584	c.689C>T	c.(688-690)gCg>gTg	p.A230V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A230V	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CATGTGCGCGCGCAGCTCATC	0.637										Prostate(3;0.18)			4	64	---	---	---	---	0	0
C17orf78	284099	broad.mit.edu	37	17	35745662	35745662	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:35745662T>A	ENST00000300618.4	+	5	616	c.566T>A	c.(565-567)aTt>aAt	p.I189N	ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000589665.1_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	189						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AAAATTCTGATTGCTGTCACC	0.398													13	12	---	---	---	---	0	0
CDH2	1000	broad.mit.edu	37	18	25583091	25583091	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr18:25583091G>T	ENST00000269141.3	-	7	1313	c.890C>A	c.(889-891)cCc>cAc	p.P297H	CDH2_ENST00000399380.3_Missense_Mutation_p.P266H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	297	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGGGCATTGGGATCGTCAGC	0.458													4	84	---	---	---	---	0	0
SHC2	25759	broad.mit.edu	37	19	438989	438989	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:438989C>T	ENST00000264554.6	-	3	580	c.581G>A	c.(580-582)cGg>cAg	p.R194Q		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	194	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGATCCCCGGACGCCAGG	0.677													9	12	---	---	---	---	0	0
PRKACA	5566	broad.mit.edu	37	19	14204548	14204548	+	Silent	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:14204548C>A	ENST00000308677.4	-	9	1018	c.822G>T	c.(820-822)ctG>ctT	p.L274L	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.L266L	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	274	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GATCTACCTGCAGGAGGTTCC	0.542													3	66	---	---	---	---	0	0
RAC2	5880	broad.mit.edu	37	22	37622732	37622732	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr22:37622732C>T	ENST00000249071.6	-	6	681	c.560G>A	c.(559-561)cGc>cAc	p.R187H	RAC2_ENST00000406508.1_Missense_Mutation_p.R143H|RAC2_ENST00000405484.1_Missense_Mutation_p.R180H	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	187					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCAGGCGCGCTTCTGCTG	0.632													7	15	---	---	---	---	0	0
NSDHL	50814	broad.mit.edu	37	X	152037459	152037459	+	Silent	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrX:152037459A>G	ENST00000370274.3	+	8	1115	c.921A>G	c.(919-921)ctA>ctG	p.L307L	NSDHL_ENST00000440023.1_Silent_p.L307L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	307					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CCCTCCTGCTATCCCTGCTGG	0.582													38	5	---	---	---	---	0	0
KIAA1614	57710	broad.mit.edu	37	1	180907822	180907822	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:180907822G>A	ENST00000367588.4	+	6	2948	c.2893G>A	c.(2893-2895)Gga>Aga	p.G965R	KIAA1614_ENST00000367587.1_Missense_Mutation_p.G586R	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	965	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GACAGGGTCAGGATCTGGAGG	0.582													3	49	---	---	---	---	0	0
IARS2	55699	broad.mit.edu	37	1	220273972	220273972	+	Silent	SNP	T	T	C			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:220273972T>C	ENST00000366922.1	+	3	646	c.315T>C	c.(313-315)gcT>gcC	p.A105A	IARS2_ENST00000302637.5_Silent_p.A177A			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	177					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATCTTTCAGCTATGGAAATTA	0.348													19	28	---	---	---	---	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547651	125547651	+	Silent	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:125547651G>A	ENST00000431078.1	+	18	3286	c.2922G>A	c.(2920-2922)gtG>gtA	p.V974V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	974	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAAGTGTGTGGAGAAGCACA	0.557													16	22	---	---	---	---	0	0
RIF1	55183	broad.mit.edu	37	2	152322042	152322042	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:152322042A>C	ENST00000243326.5	+	29	6491	c.6008A>C	c.(6007-6009)aAt>aCt	p.N2003T	RIF1_ENST00000428287.2_Missense_Mutation_p.N2003T|RIF1_ENST00000444746.2_Missense_Mutation_p.N2003T|RIF1_ENST00000453091.2_Missense_Mutation_p.N2003T|RIF1_ENST00000430328.2_Missense_Mutation_p.N2003T			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)		Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATGGAGGAAATGATGTATCT	0.368													8	15	---	---	---	---	0	0
CLASP2	23122	broad.mit.edu	37	3	33686339	33686339	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr3:33686339A>G	ENST00000399362.4	-	8	1125	c.772T>C	c.(772-774)Tca>Cca	p.S258P	CLASP2_ENST00000480013.1_Missense_Mutation_p.S25P|CLASP2_ENST00000359576.5_Missense_Mutation_p.S258P|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000333778.6_Missense_Mutation_p.S35P|CLASP2_ENST00000487200.1_Missense_Mutation_p.S31P|CLASP2_ENST00000461133.3_Missense_Mutation_p.S25P|CLASP2_ENST00000313350.6_Missense_Mutation_p.S31P|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000539981.1_Missense_Mutation_p.S31P|CLASP2_ENST00000468888.2_Missense_Mutation_p.S258P	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	258										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTGAAGGCTGATGCAGCTGAT	0.438													2	10	---	---	---	---	0	0
C6	729	broad.mit.edu	37	5	41154017	41154017	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr5:41154017C>T	ENST00000263413.3	-	15	2449	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	C6_ENST00000337836.5_Missense_Mutation_p.E729K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	729	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAAGTTAGCTCAATGGATTCA	0.478													17	48	---	---	---	---	0	0
GTF2E2	2961	broad.mit.edu	37	8	30437879	30437879	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr8:30437879A>C	ENST00000355904.4	-	7	960	c.678T>G	c.(676-678)gaT>gaG	p.D226E		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	226					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CGTCCATGGAATCTACAGTGA	0.373													28	59	---	---	---	---	0	0
MTDH	92140	broad.mit.edu	37	8	98657100	98657100	+	Silent	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr8:98657100G>A	ENST00000336273.3	+	1	694	c.366G>A	c.(364-366)ctG>ctA	p.L122L	MTDH_ENST00000519934.1_Silent_p.L99L	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	122	Interaction with BCCIP.|Interaction with RELA.				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GGAAGAAACTGTCCGAGAAGC	0.672													3	8	---	---	---	---	0	0
POLD3	10714	broad.mit.edu	37	11	74303721	74303721	+	Nonsense_Mutation	SNP	T	T	G			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr11:74303721T>G	ENST00000263681.2	+	1	147	c.18T>G	c.(16-18)taT>taG	p.Y6*	POLD3_ENST00000532784.1_3'UTR|POLD3_ENST00000532497.1_De_novo_Start_OutOfFrame|POLD3_ENST00000527458.1_De_novo_Start_InFrame	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	6					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ACCAGCTTTATCTGGAAAATA	0.622													9	11	---	---	---	---	0	0
BIRC2	329	broad.mit.edu	37	11	102248361	102248361	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr11:102248361C>G	ENST00000227758.2	+	7	2900	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.Q452E|BIRC2_ENST00000532672.1_Missense_Mutation_p.Q480E	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	501	CARD.				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ACAAAAAACACAGATACCTTT	0.333													12	19	---	---	---	---	0	0
ISLR	3671	broad.mit.edu	37	15	74467265	74467265	+	Silent	SNP	C	C	T			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr15:74467265C>T	ENST00000249842.3	+	2	423	c.66C>T	c.(64-66)ccC>ccT	p.P22P	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P22P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	22	LRRNT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCCTGAGCCCTGCGACTGTG	0.627													13	34	---	---	---	---	0	0
MYO15A	51168	broad.mit.edu	37	17	18023607	18023607	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:18023607C>T	ENST00000205890.5	+	2	1831	c.1493C>T	c.(1492-1494)cCa>cTa	p.P498L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	498	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTGCCCCTGCCACCCTCTCTG	0.642													17	37	---	---	---	---	0	0
MED13	9969	broad.mit.edu	37	17	60060259	60060259	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:60060259T>A	ENST00000397786.2	-	16	3181	c.3105A>T	c.(3103-3105)aaA>aaT	p.K1035N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1035					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATTTTCATATTTGACTGAAC	0.507													17	37	---	---	---	---	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416266	5416266	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr18:5416266G>T	ENST00000341928.2	-	13	1958	c.1618C>A	c.(1618-1620)Cca>Aca	p.P540T	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P540T|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	540	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCATAACCTGGCAGTTTGCAG	0.582													25	73	---	---	---	---	0	0
ATP5A1	498	broad.mit.edu	37	18	43666432	43666432	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr18:43666432T>C	ENST00000593152.2	-	9	1594	c.1055A>G	c.(1054-1056)aAa>aGa	p.K352R	ATP5A1_ENST00000590665.1_Missense_Mutation_p.K380R|ATP5A1_ENST00000398752.6_Missense_Mutation_p.K402R|ATP5A1_ENST00000282050.2_Missense_Mutation_p.K402R	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	402					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GCGGATACCTTTGTAGAACAA	0.408													10	20	---	---	---	---	0	0
C19orf44	84167	broad.mit.edu	37	19	16620545	16620545	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:16620545A>G	ENST00000221671.3	+	5	1541	c.1385A>G	c.(1384-1386)aAc>aGc	p.N462S	C19orf44_ENST00000594035.1_Missense_Mutation_p.N462S|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	462										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CCCATGGTGAACACAGTCAGC	0.547													20	33	---	---	---	---	0	0
RSPH6A	81492	broad.mit.edu	37	19	46303813	46303813	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:46303813G>A	ENST00000221538.3	-	5	1949	c.1807C>T	c.(1807-1809)Cac>Tac	p.H603Y	RSPH6A_ENST00000597055.1_Missense_Mutation_p.H603Y|RSPH6A_ENST00000600188.1_Missense_Mutation_p.H339Y	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	603	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTGCCAGGTGCATGATTTCT	0.667													12	36	---	---	---	---	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512452	68512452	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:68512452A>C	ENST00000370981.1	-	4	1165	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.F177V|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	177					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCTCCATGAAGGCGCAATTC	0.547													14	116	---	---	---	---	0	0
NPHS2	7827	broad.mit.edu	37	1	179526351	179526351	+	Silent	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:179526351G>A	ENST00000367615.4	-	5	617	c.549C>T	c.(547-549)gaC>gaT	p.D183D	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	183					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TTATAAACATGTCTTTGGTCA	0.418													12	35	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228437915	228437915	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:228437915G>A	ENST00000570156.2	+	15	4633	c.4559G>A	c.(4558-4560)cGg>cAg	p.R1520Q	OBSCN_ENST00000422127.1_Missense_Mutation_p.R1428Q|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1428Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	498	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGGCCAGCGGCTCTCCTTC	0.637													9	161	---	---	---	---	0	0
MGAT5	4249	broad.mit.edu	37	2	135206227	135206227	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr2:135206227G>T	ENST00000409645.1	+	17	2287	c.2035G>T	c.(2035-2037)Gtg>Ttg	p.V679L	MGAT5_ENST00000281923.2_Missense_Mutation_p.V679L			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	679					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CAGGTACAAGGTGACCTGCCA	0.542													5	223	---	---	---	---	0	0
CNTN6	27255	broad.mit.edu	37	3	1394066	1394066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr3:1394066G>T	ENST00000446702.2	+	12	2050	c.1423G>T	c.(1423-1425)Gga>Tga	p.G475*	CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G475*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G403*			Q9UQ52	CNTN6_HUMAN	contactin 6	475	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCAGATGCTGGATCATATAC	0.358													6	38	---	---	---	---	0	0
MMP16	4325	broad.mit.edu	37	8	89128918	89128918	+	Silent	SNP	T	T	G			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr8:89128918T>G	ENST00000286614.6	-	6	1182	c.901A>C	c.(901-903)Aga>Cga	p.R301R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	301					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R301*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GGTAGAGGTCTTGTAGGTGGA	0.512													6	167	---	---	---	---	0	0
ANKRD26	22852	broad.mit.edu	37	10	27381415	27381415	+	Silent	SNP	T	T	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr10:27381415T>A	ENST00000376087.4	-	4	723	c.558A>T	c.(556-558)gcA>gcT	p.A186A	ANKRD26_ENST00000436985.2_Silent_p.A186A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	186						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCCACTTACTGCAAGTAAAA	0.338													7	30	---	---	---	---	0	0
BBOX1	8424	broad.mit.edu	37	11	27077078	27077078	+	Nonsense_Mutation	SNP	T	T	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr11:27077078T>A	ENST00000263182.3	+	3	469	c.101T>A	c.(100-102)tTg>tAg	p.L34*	BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000525090.1_Nonsense_Mutation_p.L34*|BBOX1_ENST00000528583.1_Nonsense_Mutation_p.L34*|BBOX1_ENST00000529202.1_Nonsense_Mutation_p.L34*|RP11-1L12.3_ENST00000526061.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	34					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GCTGTATGGTTGAGAGACAAC	0.473													15	50	---	---	---	---	0	0
DNAJC22	79962	broad.mit.edu	37	12	49743299	49743299	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:49743299T>C	ENST00000549441.2	+	3	1848	c.644T>C	c.(643-645)tTt>tCt	p.F215S	DNAJC22_ENST00000395069.3_Missense_Mutation_p.F215S			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	215					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GCAGAAACCTTTGGCTCCTTC	0.552													5	184	---	---	---	---	0	0
SH2B3	10019	broad.mit.edu	37	12	111885274	111885274	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:111885274G>A	ENST00000341259.2	+	6	1519	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	SH2B3_ENST00000538307.1_Missense_Mutation_p.V186M	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	388	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						TGCTCATGGAGTGTTCCTGGT	0.612													31	126	---	---	---	---	0	0
HECTD4	283450	broad.mit.edu	37	12	112632752	112632752	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:112632752G>A	ENST00000550722.1	-	56	8643	c.8248C>T	c.(8248-8250)Cgg>Tgg	p.R2750W	HECTD4_ENST00000377560.5_Missense_Mutation_p.R2724W|HECTD4_ENST00000430131.2_Missense_Mutation_p.R2474W	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTAATGTCCCGGATGGCAGGG	0.577													4	14	---	---	---	---	0	0
GPR132	29933	broad.mit.edu	37	14	105518068	105518068	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr14:105518068T>A	ENST00000329797.3	-	4	1317	c.406A>T	c.(406-408)Atc>Ttc	p.I136F	GPR132_ENST00000392585.2_Missense_Mutation_p.I127F|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.I136F	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	136					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCGCAGGAGATGCAGCACAGG	0.642													21	166	---	---	---	---	0	0
SLFN11	91607	broad.mit.edu	37	17	33679579	33679579	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:33679579C>A	ENST00000394566.1	-	7	2774	c.2502G>T	c.(2500-2502)agG>agT	p.R834S	SLFN11_ENST00000308377.4_Missense_Mutation_p.R834S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	834						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTGCACCACCCTTTTCTTCC	0.473													7	134	---	---	---	---	0	0
LIMD2	80774	broad.mit.edu	37	17	61776290	61776290	+	Silent	SNP	G	G	A			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:61776290G>A	ENST00000259006.3	-	4	251	c.93C>T	c.(91-93)agC>agT	p.S31S	LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000578402.1_Silent_p.S31S|LIMD2_ENST00000578061.1_Silent_p.S31S	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	31							zinc ion binding			kidney(1)|lung(2)	3						GGGCCCGCAGGCTGAAGGACT	0.662													5	93	---	---	---	---	0	0
SRRM5	100170229	broad.mit.edu	37	19	44118391	44118391	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr19:44118391G>T	ENST00000607544.1	+	3	2440	c.2118G>T	c.(2116-2118)agG>agT	p.R706S	SRRM5_ENST00000417606.1_Missense_Mutation_p.R706S|ZNF428_ENST00000300811.3_Missense_Mutation_p.D22E|SRRM5_ENST00000526798.1_Missense_Mutation_p.R721S			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	706	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						CTGGGGAAAGGTCTTCATCAT	0.597													10	55	---	---	---	---	0	0
IGHV1OR21-1	0	broad.mit.edu	37	21	10862665	10862665	+	RNA	SNP	C	C	T			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr21:10862665C>T	ENST00000559480.1	+	0	44																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTCATAGCTGCGGGTAGGATA	0.522													25	378	---	---	---	---	0	0
F5	2153	broad.mit.edu	37	1	169511343	169511343	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr1:169511343C>A	ENST00000367796.3	-	13	3201	c.3000G>T	c.(2998-3000)caG>caT	p.Q1000H	F5_ENST00000367797.3_Missense_Mutation_p.Q995H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	995	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGTGGCCACTCTGCTTTCCAG	0.468													34	130	---	---	---	---	0	0
PTH2R	5746	broad.mit.edu	37	2	209307106	209307106	+	Silent	SNP	C	C	T			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr2:209307106C>T	ENST00000272847.2	+	5	642	c.429C>T	c.(427-429)cgC>cgT	p.R143R	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	143						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTTTGAACGCCTCTATGTAA	0.398													18	116	---	---	---	---	0	0
DPPA4	55211	broad.mit.edu	37	3	109050826	109050826	+	Silent	SNP	C	C	T			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr3:109050826C>T	ENST00000335658.6	-	3	285	c.231G>A	c.(229-231)aaG>aaA	p.K77K	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	77						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTGGTATCTTCTTCTGAGGTC	0.463													7	134	---	---	---	---	0	0
COL25A1	84570	broad.mit.edu	37	4	109767343	109767343	+	Silent	SNP	G	G	A			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr4:109767343G>A	ENST00000399132.1	-	28	1997	c.1467C>T	c.(1465-1467)gaC>gaT	p.D489D	COL25A1_ENST00000399127.1_Silent_p.D462D|COL25A1_ENST00000399126.1_Silent_p.D489D	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	489	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCATACCTGGGTCCCCCATGT	0.388													23	69	---	---	---	---	0	0
ZFR	51663	broad.mit.edu	37	5	32403259	32403259	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr5:32403259T>A	ENST00000265069.8	-	8	1570	c.1468A>T	c.(1468-1470)Aca>Tca	p.T490S		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	490					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GCCATATTTGTAGGCACTGCT	0.403													15	83	---	---	---	---	0	0
PCDHB2	0	broad.mit.edu	37	5	140474539	140474539	+	Silent	SNP	G	G	T			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr5:140474539G>T	ENST00000194155.4	+	1	313	c.165G>T	c.(163-165)ggG>ggT	p.G55G		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		55	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGACCTGGGGCTGGAGATAG	0.512													4	57	---	---	---	---	0	0
TRBV7-4	0	broad.mit.edu	37	7	142176530	142176530	+	RNA	SNP	A	A	T			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr7:142176530A>T	ENST00000390369.2	-	0	145																											ATAAAGGGTTACATGACCCGA	0.542													8	36	---	---	---	---	0	0
PPRC1	23082	broad.mit.edu	37	10	103906642	103906642	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr10:103906642A>G	ENST00000278070.2	+	9	3932	c.3893A>G	c.(3892-3894)tAt>tGt	p.Y1298C	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.Y265C|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACCATGACTATTGTGTCCGG	0.577													9	31	---	---	---	---	0	0
C10orf91	170393	broad.mit.edu	37	10	134261457	134261457	+	Silent	SNP	C	C	G			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr10:134261457C>G	ENST00000392630.3	+	3	391	c.330C>G	c.(328-330)ccC>ccG	p.P110P	C10orf91_ENST00000321248.2_Silent_p.P110P	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	110										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		AGGCAGCTCCCGTGGTAGATC	0.677													8	131	---	---	---	---	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944936	43944936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr12:43944936G>A	ENST00000389420.3	-	2	228	c.229C>T	c.(229-231)Cga>Tga	p.R77*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.R77*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	77						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAGTGGGTTCGGAACGGCATG	0.617													24	72	---	---	---	---	0	0
MTUS2	23281	broad.mit.edu	37	13	29599579	29599579	+	Silent	SNP	C	C	T			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr13:29599579C>T	ENST00000431530.3	+	1	832	c.774C>T	c.(772-774)acC>acT	p.T258T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	248						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACCATCTACCTCAGAAAGCA	0.557													5	23	---	---	---	---	0	0
LTBP2	4053	broad.mit.edu	37	14	74991895	74991895	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr14:74991895C>T	ENST00000261978.4	-	15	2848	c.2462G>A	c.(2461-2463)gGg>gAg	p.G821E	LTBP2_ENST00000556690.1_Missense_Mutation_p.G821E	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	821					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCTGCAATCCCCTGTTCAGG	0.612													11	75	---	---	---	---	0	0
ZNF420	147923	broad.mit.edu	37	19	37580021	37580021	+	Translation_Start_Site	SNP	A	A	G			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr19:37580021A>G	ENST00000337995.3	+	3	216	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ZNF420_ENST00000304239.7_Start_Codon_SNP_p.M1V	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTAAAAACCATGGCTCGGGT	0.423													3	59	---	---	---	---	0	0
USP48	84196	broad.mit.edu	37	1	22074643	22074643	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:22074643A>C	ENST00000308271.9	-	7	1544	c.896T>G	c.(895-897)tTt>tGt	p.F299C	USP48_ENST00000400301.1_Missense_Mutation_p.F299C|USP48_ENST00000529637.1_Missense_Mutation_p.F299C|USP48_ENST00000421625.2_Missense_Mutation_p.F299C	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	299					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GTCAAAGACAAAACGCATTAG	0.368													3	47	---	---	---	---	0	0
RSPO1	284654	broad.mit.edu	37	1	38082185	38082185	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:38082185G>A	ENST00000356545.2	-	5	1044	c.257C>T	c.(256-258)gCc>gTc	p.A86V	RSPO1_ENST00000401068.1_Missense_Mutation_p.A86V|RSPO1_ENST00000373059.1_Missense_Mutation_p.A59V|RSPO1_ENST00000401070.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401069.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401071.2_Missense_Mutation_p.A86V	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	86					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGTTGCGGGCGTCGAAGTA	0.612													5	68	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152276820	152276820	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:152276820G>C	ENST00000368799.1	-	3	10577	c.10542C>G	c.(10540-10542)gaC>gaG	p.D3514E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3514	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTAGAGCTGTCCGCCTGAG	0.567									Ichthyosis				15	281	---	---	---	---	0	0
SYT11	23208	broad.mit.edu	37	1	155851027	155851027	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:155851027C>T	ENST00000368324.4	+	4	1277	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	SYT11_ENST00000539162.1_Missense_Mutation_p.R35C	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	342	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CGGCAGAAAGCGCATTGCCAA	0.468													26	233	---	---	---	---	0	0
FCGR2A	2212	broad.mit.edu	37	1	161480636	161480636	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:161480636G>T	ENST00000271450.6	+	5	670	c.632G>T	c.(631-633)gGc>gTc	p.G211V	FCGR2A_ENST00000367972.4_Missense_Mutation_p.G210V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	211						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGCATGGGCAGCTCTTCA	0.512													7	114	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	186106992	186106992	+	Silent	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:186106992C>T	ENST00000271588.4	+	89	14041	c.13812C>T	c.(13810-13812)cgC>cgT	p.R4604R	HMCN1_ENST00000367492.2_Silent_p.R4604R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4604	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R4604R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGTGGACGCGGCAACCAAA	0.463													5	95	---	---	---	---	0	0
NEU2	4759	broad.mit.edu	37	2	233899740	233899740	+	Silent	SNP	C	C	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr2:233899740C>A	ENST00000233840.3	+	2	1116	c.1116C>A	c.(1114-1116)gcC>gcA	p.A372A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	372							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TGAAGCAAGCCTTCCCAGCTG	0.597													7	136	---	---	---	---	0	0
HYAL1	3373	broad.mit.edu	37	3	50340316	50340316	+	Silent	SNP	G	G	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr3:50340316G>T	ENST00000266031.4	-	1	687	c.72C>A	c.(70-72)ggC>ggA	p.G24G	HYAL1_ENST00000395144.2_Silent_p.G24G|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000320295.8_Silent_p.G24G|HYAL1_ENST00000395143.2_Silent_p.G24G|HYAL1_ENST00000457214.2_Intron			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	24						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GTAGCAAGGGGCCCCTAAAGC	0.612													4	53	---	---	---	---	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25314511	25314511	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr4:25314511T>C	ENST00000302874.4	+	1	104	c.80T>C	c.(79-81)gTg>gCg	p.V27A	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	27							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGAATGGAGGTGGTGCTTCCT	0.672											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	100	---	---	---	---	0	0
PCDHB15	0	broad.mit.edu	37	5	140626461	140626461	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr5:140626461G>A	ENST00000231173.3	+	1	1315	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		439	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCATAACCGTGCTGGTGTC	0.592													7	133	---	---	---	---	0	0
EPO	2056	broad.mit.edu	37	7	100320666	100320666	+	Silent	SNP	T	T	G			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr7:100320666T>G	ENST00000252723.2	+	5	673	c.492T>G	c.(490-492)acT>acG	p.T164T		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	164					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CTGCTGACACTTTCCGCAAAC	0.572													7	149	---	---	---	---	0	0
TBC1D2	55357	broad.mit.edu	37	9	100970983	100970983	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr9:100970983T>G	ENST00000375066.5	-	9	2208	c.2117A>C	c.(2116-2118)aAc>aCc	p.N706T	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.N706T|TBC1D2_ENST00000342112.5_Missense_Mutation_p.N488T|TBC1D2_ENST00000375063.1_Missense_Mutation_p.N246T	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	706	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GATGGTGGGGTTCTGCCAGGA	0.602													4	49	---	---	---	---	0	0
RBM17	84991	broad.mit.edu	37	10	6157238	6157238	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr10:6157238T>C	ENST00000446108.1	+	11	1710	c.1066T>C	c.(1066-1068)Ttt>Ctt	p.F356L	RBM17_ENST00000379888.4_Missense_Mutation_p.F356L|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	356	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGTACGGATATTTTTAGAATT	0.343													3	24	---	---	---	---	0	0
IFT27	11020	broad.mit.edu	37	22	37163883	37163883	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr22:37163883C>T	ENST00000340630.5	-	2	500	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	IFT27_ENST00000453009.2_5'UTR|IFT27_ENST00000433985.2_Missense_Mutation_p.A20T	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	20					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCCAGGGCGGTCTTGCCC	0.512													13	218	---	---	---	---	0	0
MTOR	2475	broad.mit.edu	37	1	11169351	11169351	+	Silent	SNP	G	G	T			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr1:11169351G>T	ENST00000361445.4	-	56	7600	c.7524C>A	c.(7522-7524)ctC>ctA	p.L2508L	MTOR_ENST00000376838.1_Silent_p.L713L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2508	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ACTCACCAGTGAGCTTATCTC	0.428													4	87	---	---	---	---	0	0
SSX2IP	117178	broad.mit.edu	37	1	85127952	85127952	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr1:85127952T>C	ENST00000437941.2	-	7	1127	c.775A>G	c.(775-777)Aag>Gag	p.K259E	SSX2IP_ENST00000605755.1_Missense_Mutation_p.K259E|SSX2IP_ENST00000342203.3_Missense_Mutation_p.K286E|SSX2IP_ENST00000370612.4_Missense_Mutation_p.K286E|SSX2IP_ENST00000603677.1_Intron	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	286					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATCATTTCCTTTTTCATTTGT	0.328													4	88	---	---	---	---	0	0
IQCG	84223	broad.mit.edu	37	3	197665464	197665464	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr3:197665464T>A	ENST00000265239.6	-	5	894	c.470A>T	c.(469-471)cAg>cTg	p.Q157L	IQCG_ENST00000455191.1_Missense_Mutation_p.Q157L|IQCG_ENST00000453254.1_Missense_Mutation_p.Q157L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	157										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CATGATGGTCTGCCTTGTAGG	0.428													17	198	---	---	---	---	0	0
FGA	2243	broad.mit.edu	37	4	155510000	155510000	+	Silent	SNP	A	A	G			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr4:155510000A>G	ENST00000302053.3	-	3	387	c.309T>C	c.(307-309)caT>caC	p.H103H	FGA_ENST00000403106.3_Silent_p.H103H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	103					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGGTCAACGAATGAGAATCCT	0.299													8	100	---	---	---	---	0	0
SHROOM1	134549	broad.mit.edu	37	5	132158689	132158689	+	Silent	SNP	C	C	T			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr5:132158689C>T	ENST00000378679.3	-	10	3162	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	SHROOM1_ENST00000378676.1_Silent_p.L717L|SHROOM1_ENST00000319854.3_Silent_p.L781L	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	786	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATAGACGCGCAGCTCCTCCA	0.706													4	39	---	---	---	---	0	0
HLA-DRB6	0	broad.mit.edu	37	6	32522465	32522465	+	RNA	SNP	A	A	G			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr6:32522465A>G	ENST00000411500.1	-	0	740					NR_001298.1																						AAAGCTGCTCACTCCATTCCA	0.498													6	147	---	---	---	---	0	0
ROS1	6098	broad.mit.edu	37	6	117662426	117662426	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr6:117662426C>T	ENST00000368508.3	-	30	5149	c.4951G>A	c.(4951-4953)Gtc>Atc	p.V1651I	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V1645I	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1651	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCCACAGTGACAGGATGACTC	0.408			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	71	---	---	---	---	0	0
SAMD9	54809	broad.mit.edu	37	7	92734007	92734007	+	Silent	SNP	T	T	C			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr7:92734007T>C	ENST00000379958.2	-	3	1673	c.1404A>G	c.(1402-1404)gtA>gtG	p.V468V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	468						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTCTACATATACACTTGGAA	0.403													7	32	---	---	---	---	0	0
NUP205	23165	broad.mit.edu	37	7	135279306	135279306	+	Silent	SNP	T	T	C			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr7:135279306T>C	ENST00000285968.6	+	13	1868	c.1842T>C	c.(1840-1842)gcT>gcC	p.A614A	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	614					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTGAAAATGCTCGCTTGGCAC	0.403													5	67	---	---	---	---	0	0
PAG1	55824	broad.mit.edu	37	8	81897133	81897133	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr8:81897133G>C	ENST00000220597.4	-	7	1464	c.754C>G	c.(754-756)Cca>Gca	p.P252A		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	252					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TCCTCTTCTGGATCACATGAA	0.478													7	93	---	---	---	---	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110442248	110442248	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr8:110442248G>A	ENST00000378402.5	+	27	3315	c.3211G>A	c.(3211-3213)Gcg>Acg	p.A1071T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1071	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTAGTCTTGGCGATAAGCCC	0.368										HNSCC(38;0.096)			3	22	---	---	---	---	0	0
CYB561A3	220002	broad.mit.edu	37	11	61118523	61118523	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr11:61118523G>A	ENST00000544118.1	-	4	493	c.266C>T	c.(265-267)tCt>tTt	p.S89F	CYB561A3_ENST00000447532.2_Silent_p.L215L|CYB561A3_ENST00000536915.1_Silent_p.L215L|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000294072.4_Silent_p.L215L|CYB561A3_ENST00000539890.1_Missense_Mutation_p.S94F|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000426130.2_Silent_p.L232L					cytochrome b561 family, member A3																		GAAGGATGTAGAGCACCAGCA	0.607													5	27	---	---	---	---	0	0
CCDC87	55231	broad.mit.edu	37	11	66358990	66358990	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr11:66358990C>T	ENST00000333861.3	-	1	1564	c.1497G>A	c.(1495-1497)atG>atA	p.M499I		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	499										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGACATGGCTCATCAACTCCT	0.463													21	106	---	---	---	---	0	0
ERBB3	2065	broad.mit.edu	37	12	56492616	56492616	+	Silent	SNP	C	C	T			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr12:56492616C>T	ENST00000267101.3	+	23	3206	c.2766C>T	c.(2764-2766)gaC>gaT	p.D922D	ERBB3_ENST00000553131.1_Silent_p.D163D|ERBB3_ENST00000450146.2_Silent_p.D279D|ERBB3_ENST00000549832.1_Silent_p.D42D|ERBB3_ENST00000415288.2_Silent_p.D863D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	922	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AAGTACCAGACCTGCTAGAGA	0.532													4	78	---	---	---	---	0	0
MBNL2	10150	broad.mit.edu	37	13	98043657	98043657	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr13:98043657A>G	ENST00000376673.3	+	8	1857	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C	MBNL2_ENST00000445661.2_Missense_Mutation_p.Y192C|MBNL2_ENST00000343600.4_Missense_Mutation_p.Y347C|MBNL2_ENST00000397601.1_Missense_Mutation_p.Y347C|MBNL2_ENST00000345429.6_3'UTR			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	359					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TACTGTACATACTATCCTGTT	0.363													6	66	---	---	---	---	0	0
PAX9	5083	broad.mit.edu	37	14	37132444	37132444	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr14:37132444A>G	ENST00000361487.6	+	2	572	c.347A>G	c.(346-348)aAt>aGt	p.N116S	PAX9_ENST00000402703.2_Missense_Mutation_p.N116S|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	116	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GACAAGTACAATGTGCCCTCC	0.607													13	117	---	---	---	---	0	0
NPC2	10577	broad.mit.edu	37	14	74959974	74959974	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr14:74959974G>A	ENST00000541064.1	-	1	10	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	NPC2_ENST00000557510.1_Missense_Mutation_p.R2C|NPC2_ENST00000555619.1_Missense_Mutation_p.R2C|NPC2_ENST00000434013.2_Missense_Mutation_p.R2C|NPC2_ENST00000238633.2_Missense_Mutation_p.R2C			P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	2					cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		GCCAGGAAACGCATCGCGGAT	0.667													3	18	---	---	---	---	0	0
SYNE3	161176	broad.mit.edu	37	14	95921914	95921914	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr14:95921914G>A	ENST00000334258.5	-	5	951	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	SYNE3_ENST00000557275.1_Missense_Mutation_p.R313C|SYNE3_ENST00000553340.1_Missense_Mutation_p.R313C|SYNE3_ENST00000554873.1_Missense_Mutation_p.R70C	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CAGAGGGCGCGCAGCTTCTCC	0.617													6	157	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr17:47696426A>C	ENST00000393331.3	-	7	867	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			11	105	---	---	---	---	0	0
RAB37	326624	broad.mit.edu	37	17	72736966	72736966	+	Silent	SNP	C	C	T			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr17:72736966C>T	ENST00000392610.1	+	2	194	c.153C>T	c.(151-153)gaC>gaT	p.D51D	RAB37_ENST00000392613.5_Silent_p.D51D|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000528438.1_Silent_p.D24D|RAB37_ENST00000392614.4_Silent_p.D56D|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000340415.3_Intron			Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	51					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AATTCAAAGACGGGGCCTTCC	0.587													18	190	---	---	---	---	0	0
PLCB1	23236	broad.mit.edu	37	20	8639228	8639228	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr20:8639228G>A	ENST00000378641.3	+	9	1214	c.739G>A	c.(739-741)Gat>Aat	p.D247N	PLCB1_ENST00000378637.2_Missense_Mutation_p.D247N|PLCB1_ENST00000338037.6_Missense_Mutation_p.D247N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	247					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCAGATGATGGATTTTATCAA	0.333													9	48	---	---	---	---	0	0
ALX3	257	broad.mit.edu	37	1	110604148	110604148	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:110604148C>T	ENST00000369792.4	-	3	719	c.632G>A	c.(631-633)cGc>cAc	p.R211H	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	211						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATAACGCTCGCGCTTCCGCCA	0.622													23	42	---	---	---	---	0	0
PTPRC	5788	broad.mit.edu	37	1	198721481	198721481	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:198721481T>C	ENST00000367376.2	+	30	3476	c.3305T>C	c.(3304-3306)tTt>tCt	p.F1102S	PTPRC_ENST00000442510.2_Missense_Mutation_p.F1104S|PTPRC_ENST00000352140.3_Missense_Mutation_p.F1054S|PTPRC_ENST00000348564.6_Missense_Mutation_p.F943S|PTPRC_ENST00000594404.1_Missense_Mutation_p.F941S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1102	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTCGTGTCTTTGAACTGAGA	0.373													16	26	---	---	---	---	0	0
GRID2	2895	broad.mit.edu	37	4	94138039	94138039	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr4:94138039G>T	ENST00000282020.4	+	6	1198	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.D219Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	314					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGATCCAAAGGATCCATTTGC	0.413													50	66	---	---	---	---	0	0
PDZD2	23037	broad.mit.edu	37	5	32089674	32089674	+	Silent	SNP	G	G	A	rs150986745		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr5:32089674G>A	ENST00000438447.1	+	20	6508	c.6120G>A	c.(6118-6120)gcG>gcA	p.A2040A	PDZD2_ENST00000282493.3_Silent_p.A2040A			O15018	PDZD2_HUMAN	PDZ domain containing 2	2040					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCGGCAGCGTCTAGGAACG	0.647													12	248	---	---	---	---	0	0
TAB2	23118	broad.mit.edu	37	6	149700269	149700269	+	Silent	SNP	A	A	G			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr6:149700269A>G	ENST00000367456.1	+	4	1795	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	TAB2_ENST00000392282.1_Silent_p.T406T|TAB2_ENST00000536230.1_Silent_p.T374T|TAB2_ENST00000286332.5_Silent_p.T406T|TAB2_ENST00000538427.1_Silent_p.T406T			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	406					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ATCAGCCCACACTCTTCATAT	0.502													13	25	---	---	---	---	0	0
AMZ1	155185	broad.mit.edu	37	7	2752278	2752278	+	Missense_Mutation	SNP	A	A	C	rs148314719	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr7:2752278A>C	ENST00000312371.4	+	7	1631	c.1263A>C	c.(1261-1263)gaA>gaC	p.E421D	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	421							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGCAGCGGGAAGTGGCAGAGG	0.692													16	25	---	---	---	---	0	0
VAV2	7410	broad.mit.edu	37	9	136857224	136857224	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr9:136857224G>T	ENST00000371851.1	-	1	502	c.177C>A	c.(175-177)gaC>gaA	p.D59E	VAV2_ENST00000406606.3_Missense_Mutation_p.D59E|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371850.3_Missense_Mutation_p.D59E			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	59	CH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGAAGTTGATGTCCTTGAGGT	0.726													8	17	---	---	---	---	0	0
PDE1B	0	broad.mit.edu	37	12	54966490	54966490	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr12:54966490A>G	ENST00000243052.3	+	7	1136	c.700A>G	c.(700-702)Aca>Gca	p.T234A	PDE1B_ENST00000538346.1_Missense_Mutation_p.T193A|PDE1B_ENST00000550620.1_Missense_Mutation_p.T214A|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	234	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGTTACCCAGACAGTCCATTG	0.512													32	301	---	---	---	---	0	0
RYR3	6263	broad.mit.edu	37	15	33795933	33795933	+	Silent	SNP	C	C	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr15:33795933C>T	ENST00000389232.4	+	3	343	c.273C>T	c.(271-273)ggC>ggT	p.G91G	RYR3_ENST00000415757.3_Silent_p.G91G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	91					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAATGGCGGCGAAGGGGTGA	0.478													6	15	---	---	---	---	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843294	40843294	+	Silent	SNP	C	C	T	rs144310425		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr17:40843294C>T	ENST00000264638.4	+	14	2416	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	733	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCAACTGTGACGCTGACCAGC	0.632													65	109	---	---	---	---	0	0
MC3R	4159	broad.mit.edu	37	20	54823920	54823920	+	Silent	SNP	G	G	T			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr20:54823920G>T	ENST00000243911.2	+	1	133	c.21G>T	c.(19-21)ctG>ctT	p.L7L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	44					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGTGCTGCCTGCCCTCTGTTC	0.567													66	117	---	---	---	---	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071981	17071981	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr22:17071981T>A	ENST00000359963.3	-	1	1719	c.1460A>T	c.(1459-1461)aAt>aTt	p.N487I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	487					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGGGCCACATTTATTATCCC	0.517													64	92	---	---	---	---	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823055	38823055	+	Silent	SNP	C	C	G			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr22:38823055C>G	ENST00000303592.3	-	2	1341	c.1083G>C	c.(1081-1083)ctG>ctC	p.L361L	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	361					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTGGGGCGGGCAGCACGGTGA	0.642													4	59	---	---	---	---	0	0
PNPLA4	8228	broad.mit.edu	37	X	7880088	7880088	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chrX:7880088A>G	ENST00000381042.4	-	5	628	c.458T>C	c.(457-459)cTa>cCa	p.L153P	PNPLA4_ENST00000537427.1_Missense_Mutation_p.L66P|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L153P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	153	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GTATTCCACTAGCTTCAGTCC	0.378													34	5	---	---	---	---	0	0
LRRC8C	84230	broad.mit.edu	37	1	90180327	90180327	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:90180327C>G	ENST00000370454.4	+	3	2453	c.2198C>G	c.(2197-2199)aCt>aGt	p.T733S	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	733						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAACTTAAAACTCTGAAGATT	0.338													4	99	---	---	---	---	0	0
COL11A1	1301	broad.mit.edu	37	1	103540313	103540313	+	Missense_Mutation	SNP	A	A	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:103540313A>T	ENST00000358392.2	-	4	829	c.512T>A	c.(511-513)gTg>gAg	p.V171E	COL11A1_ENST00000512756.1_Missense_Mutation_p.V171E|COL11A1_ENST00000353414.4_Missense_Mutation_p.V171E|COL11A1_ENST00000370096.3_Missense_Mutation_p.V171E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	171	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCTTCTCCACGCTGATTGC	0.383													25	40	---	---	---	---	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373													5	429	---	---	---	---	0	0
ORMDL1	94101	broad.mit.edu	37	2	190636618	190636618	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:190636618C>T	ENST00000325795.3	-	3	1123	c.337G>A	c.(337-339)Gca>Aca	p.A113T	ORMDL1_ENST00000392350.3_Missense_Mutation_p.A113T|ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392349.4_Missense_Mutation_p.A113T			Q9P0S3	ORML1_HUMAN	ORM1-like 1 (S. cerevisiae)	113					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			TAGAAACTTGCCAGAAAATAT	0.328													3	39	---	---	---	---	0	0
PASK	23178	broad.mit.edu	37	2	242066448	242066448	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:242066448G>A	ENST00000403638.3	-	10	1973	c.1882C>T	c.(1882-1884)Ccc>Tcc	p.P628S	PASK_ENST00000405260.1_Missense_Mutation_p.P628S|PASK_ENST00000234040.4_Missense_Mutation_p.P628S|PASK_ENST00000539818.1_Missense_Mutation_p.P412S|PASK_ENST00000358649.4_Missense_Mutation_p.P628S|PASK_ENST00000544142.1_Missense_Mutation_p.P442S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	628					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGGGGCTGGGGGCCAAGTCC	0.637													53	44	---	---	---	---	0	0
MFI2	4241	broad.mit.edu	37	3	196742335	196742335	+	Silent	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr3:196742335C>T	ENST00000296350.5	-	9	1247	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	378	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGTCTCCACACTTCTGGATCT	0.657													6	6	---	---	---	---	0	0
DCHS2	54798	broad.mit.edu	37	4	155254287	155254287	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr4:155254287C>T	ENST00000357232.4	-	9	1575	c.1576G>A	c.(1576-1578)Gtc>Atc	p.V526I	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.V1025I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGCAAAGACGCCTGGCTGC	0.677													17	29	---	---	---	---	0	0
DDX46	9879	broad.mit.edu	37	5	134152276	134152276	+	Silent	SNP	T	T	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:134152276T>C	ENST00000452510.2	+	19	2751	c.2593T>C	c.(2593-2595)Ttg>Ctg	p.L865L	DDX46_ENST00000354283.4_Silent_p.L865L	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	865					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGAAGAATTTGGGCATCGA	0.373													36	45	---	---	---	---	0	0
PCDHB6	0	broad.mit.edu	37	5	140531920	140531920	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:140531920G>A	ENST00000231136.1	+	1	2082	c.2082G>A	c.(2080-2082)tcG>tcA	p.S694S	PCDHB6_ENST00000543635.1_Silent_p.S558S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		694					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGGCCTCGGTGTCGTCGC	0.692													77	123	---	---	---	---	0	0
PCDHB18	0	broad.mit.edu	37	5	140615769	140615769	+	RNA	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:140615769G>A	ENST00000526308.1	+	0	1832					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GTGCTGGTGCGCGTGCTGGTG	0.701													10	106	---	---	---	---	0	0
FILIP1	27145	broad.mit.edu	37	6	76124576	76124576	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr6:76124576T>G	ENST00000393004.2	-	2	334	c.113A>C	c.(112-114)aAg>aCg	p.K38T	FILIP1_ENST00000237172.7_Missense_Mutation_p.K38T			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	38	Poly-Lys.									breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTCTTCTTCTTTTTTGCATC	0.428													80	92	---	---	---	---	0	0
FZD6	8323	broad.mit.edu	37	8	104330852	104330852	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr8:104330852C>T	ENST00000358755.4	+	3	529	c.212C>T	c.(211-213)cCa>cTa	p.P71L	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.P71L|FZD6_ENST00000523739.1_Missense_Mutation_p.P39L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	71	FZ.				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GAATGTTCACCAAACATTGAA	0.308													43	50	---	---	---	---	0	0
RNF20	56254	broad.mit.edu	37	9	104314097	104314097	+	Silent	SNP	A	A	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr9:104314097A>G	ENST00000389120.3	+	11	1494	c.1404A>G	c.(1402-1404)caA>caG	p.Q468Q		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	468					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCAATGAACAAGCAGGTATAA	0.433													31	44	---	---	---	---	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804625	21804625	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr10:21804625G>A	ENST00000449193.2	-	4	4379	c.2127C>T	c.(2125-2127)tgC>tgT	p.C709C	SKIDA1_ENST00000444772.3_Silent_p.C630C	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		CATTGCACTCGCACTTTAGCT	0.393													4	195	---	---	---	---	0	0
ZW10	9183	broad.mit.edu	37	11	113639666	113639666	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:113639666G>C	ENST00000200135.3	-	2	273	c.129C>G	c.(127-129)agC>agG	p.S43R		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	43	Interaction with RINT1.|Interaction with ZWINT.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGTACTTCTTGCTAATCATAT	0.393													35	59	---	---	---	---	0	0
NINJ2	4815	broad.mit.edu	37	12	772599	772599	+	Silent	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:772599C>T	ENST00000305108.4	-	1	346	c.66G>A	c.(64-66)acG>acA	p.T22T	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CAGGCTCCGCCGTCTGAGTCT	0.612													4	92	---	---	---	---	0	0
KIF5A	3798	broad.mit.edu	37	12	57957899	57957899	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:57957899G>A	ENST00000455537.2	+	4	574	c.300G>A	c.(298-300)ctG>ctA	p.L100L	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	100	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGGGAAAGCTGCACGACCCTC	0.498													18	31	---	---	---	---	0	0
FAM71C	196472	broad.mit.edu	37	12	100042107	100042107	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:100042107A>G	ENST00000324341.1	+	1	577	c.155A>G	c.(154-156)cAg>cGg	p.Q52R	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	52										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GACTTTATCCAGATCAGCAAA	0.507													31	64	---	---	---	---	0	0
SRRM4	84530	broad.mit.edu	37	12	119592130	119592130	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:119592130C>A	ENST00000267260.4	+	12	1862	c.1474C>A	c.(1474-1476)Cct>Act	p.P492T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	492	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GTCCTACTCGCCTATGAGAAA	0.672													6	16	---	---	---	---	0	0
ITGAX	3687	broad.mit.edu	37	16	31382406	31382406	+	Splice_Site	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr16:31382406G>A	ENST00000268296.4	+	15	1833	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q	ITGAX_ENST00000562522.1_Splice_Site_p.R571Q	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	571					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTGGCCAGCGGATCGCGGGC	0.562													4	117	---	---	---	---	0	0
RABEP1	9135	broad.mit.edu	37	17	5264971	5264971	+	Splice_Site	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr17:5264971G>C	ENST00000262477.6	+	9	1787		c.e9+1		RABEP1_ENST00000341923.6_Splice_Site|RABEP1_ENST00000546142.2_Splice_Site|RABEP1_ENST00000408982.2_Splice_Site|RABEP1_ENST00000537505.1_Splice_Site|NUP88_ENST00000573169.1_5'UTR	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GCAGAAAGAGGTGAGTTACCT	0.498													6	9	---	---	---	---	0	0
CYP4F3	4051	broad.mit.edu	37	19	15763396	15763396	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr19:15763396G>A	ENST00000221307.8	+	8	983	c.936G>A	c.(934-936)aaG>aaA	p.K312K	CYP4F3_ENST00000585846.1_Silent_p.K312K|CYP4F3_ENST00000591058.1_Silent_p.K312K|CYP4F3_ENST00000586182.2_Silent_p.K312K	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ATGGGAAGAAGTTGTCCGATG	0.517													5	119	---	---	---	---	0	0
EPB41L1	2036	broad.mit.edu	37	20	34782245	34782245	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr20:34782245G>A	ENST00000338074.2	+	12	1573	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	EPB41L1_ENST00000373941.1_Missense_Mutation_p.G471E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G440E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G409E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G374E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G409E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	471					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCTGAGGAGGGAGAGGTCAGG	0.607													4	11	---	---	---	---	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671824	44671824	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr20:44671824G>A	ENST00000243964.3	+	9	1197	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	SLC12A5_ENST00000454036.2_Missense_Mutation_p.V390M	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	390					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GACCAAGGGCGTGATTGTGGA	0.582													77	105	---	---	---	---	0	0
MXRA5	25878	broad.mit.edu	37	X	3235405	3235405	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chrX:3235405G>C	ENST00000217939.6	-	6	6471	c.6317C>G	c.(6316-6318)aCg>aGg	p.T2106R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2106	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATGTAGAGCGTCCCGTTGGG	0.677													10	2	---	---	---	---	0	0
FANCB	2187	broad.mit.edu	37	X	14883152	14883152	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chrX:14883152C>A	ENST00000398334.1	-	3	748	c.481G>T	c.(481-483)Gtt>Ttt	p.V161F	FANCB_ENST00000324138.3_Missense_Mutation_p.V161F	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	161					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GACACACTAACAACTTTGCCA	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				35	8	---	---	---	---	0	0
CPNE9	151835	broad.mit.edu	37	3	9754692	9754692	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr3:9754692A>C	ENST00000383832.3	+	10	769	c.579A>C	c.(577-579)aaA>aaC	p.K193N	CPNE9_ENST00000383831.3_Missense_Mutation_p.K193N	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	193	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGGTTGTGAAAAACACGCTGA	0.527													6	19	---	---	---	---	0	0
BCHE	590	broad.mit.edu	37	3	165491285	165491285	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr3:165491285T>A	ENST00000264381.3	-	4	1860	c.1694A>T	c.(1693-1695)gAt>gTt	p.D565V	BCHE_ENST00000540653.1_Missense_Mutation_p.D27V	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	565					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCTGCTTCATCAATATTTCC	0.303													20	52	---	---	---	---	0	0
C6	729	broad.mit.edu	37	5	41172406	41172406	+	Silent	SNP	T	T	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:41172406T>A	ENST00000263413.3	-	9	1476	c.1212A>T	c.(1210-1212)acA>acT	p.T404T	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.T404T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	404	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CGCGTTTCTTTGTTTCAATCC	0.403													5	53	---	---	---	---	0	0
AGGF1	55109	broad.mit.edu	37	5	76332448	76332448	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:76332448G>A	ENST00000312916.7	+	4	966	c.584G>A	c.(583-585)aGa>aAa	p.R195K		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	195					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GAAAGTTTGAGAGCTGCAGCA	0.393													4	141	---	---	---	---	0	0
ZSCAN16	80345	broad.mit.edu	37	6	28097612	28097612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr6:28097612C>T	ENST00000340487.4	+	4	1080	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	311					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TATTCAGCATCAGAGAATCCA	0.423													5	48	---	---	---	---	0	0
BACH2	60468	broad.mit.edu	37	6	90660405	90660405	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr6:90660405G>A	ENST00000257749.4	-	7	2127	c.1420C>T	c.(1420-1422)Ctc>Ttc	p.L474F	BACH2_ENST00000343122.3_Missense_Mutation_p.L474F|BACH2_ENST00000537989.1_Missense_Mutation_p.L474F|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	474						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GAGCTGGGGAGGGACTGGCCG	0.617													17	31	---	---	---	---	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215999	123215999	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr9:123215999G>A	ENST00000349780.4	-	21	2707	c.2528C>T	c.(2527-2529)tCc>tTc	p.S843F	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S811F|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S843F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	843					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATGTGGCTTGGAAAATGAGTT	0.458													5	127	---	---	---	---	0	0
SORCS1	114815	broad.mit.edu	37	10	108431072	108431072	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:108431072C>G	ENST00000263054.6	-	16	2119	c.2112G>C	c.(2110-2112)gaG>gaC	p.E704D	SORCS1_ENST00000344440.6_Missense_Mutation_p.E704D|SORCS1_ENST00000369698.1_Missense_Mutation_p.E239D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	704						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TACACTTCCGCTCTGATTTTC	0.443													5	80	---	---	---	---	0	0
FGFR2	2263	broad.mit.edu	37	10	123325040	123325040	+	Silent	SNP	G	G	A	rs55806379		TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr10:123325040G>A	ENST00000358487.5	-	3	560	c.288C>T	c.(286-288)ggC>ggT	p.G96G	FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000346997.2_Silent_p.G96G	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	96	Ig-like C2-type 1.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TAGGCGTGGCGCCCTTTATCT	0.522		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				6	123	---	---	---	---	0	0
LGR5	8549	broad.mit.edu	37	12	71978097	71978097	+	Silent	SNP	C	C	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr12:71978097C>A	ENST00000266674.5	+	18	2618	c.2307C>A	c.(2305-2307)gcC>gcA	p.A769A	LGR5_ENST00000540815.2_Silent_p.A745A|LGR5_ENST00000536515.1_Silent_p.A697A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	769						integral to plasma membrane	protein-hormone receptor activity	p.A769A(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AACACATTGCCCTGTTGCTCT	0.433													24	85	---	---	---	---	0	0
VPS29	51699	broad.mit.edu	37	12	110930973	110930973	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr12:110930973C>T	ENST00000549578.1	-	3	324	c.259G>A	c.(259-261)Gga>Aga	p.G87R	VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.G119R|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.G91R	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	87					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ACTTGATGTCCATGGATCAGA	0.383													3	46	---	---	---	---	0	0
THSD1	55901	broad.mit.edu	37	13	52951824	52951824	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr13:52951824G>A	ENST00000349258.4	-	4	2666	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W	THSD1_ENST00000258613.4_Missense_Mutation_p.R761W|THSD1_ENST00000544466.1_Missense_Mutation_p.R382W	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	761						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GACGGTCCCCGACGAGCTCTG	0.552													13	106	---	---	---	---	0	0
ARNT2	9915	broad.mit.edu	37	15	80806707	80806707	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr15:80806707G>C	ENST00000533983.1	+	9	1144	c.805G>C	c.(805-807)Gtc>Ctc	p.V269L	ARNT2_ENST00000527771.1_Missense_Mutation_p.V269L|ARNT2_ENST00000303329.4_Missense_Mutation_p.V280L			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	280					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATATGCTGTGGTCCACTGTAC	0.488													55	121	---	---	---	---	0	0
CREBBP	1387	broad.mit.edu	37	16	3817735	3817735	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr16:3817735T>C	ENST00000262367.5	-	16	4045	c.3236A>G	c.(3235-3237)cAg>cGg	p.Q1079R	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1041R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1079					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTGCGCGGCTGCGAAGGAGA	0.418			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	110	---	---	---	---	0	0
COIL	8161	broad.mit.edu	37	17	55028138	55028138	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr17:55028138A>C	ENST00000240316.4	-	2	499	c.465T>G	c.(463-465)gaT>gaG	p.D155E		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	155						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TGACAGTCTGATCTGTGACAG	0.388													4	165	---	---	---	---	0	0
POU2F2	5452	broad.mit.edu	37	19	42597984	42597984	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:42597984T>G	ENST00000389341.5	-	12	1213	c.1147A>C	c.(1147-1149)Aca>Cca	p.T383P	POU2F2_ENST00000533720.1_Missense_Mutation_p.T383P|POU2F2_ENST00000529952.1_Missense_Mutation_p.T399P|POU2F2_ENST00000529067.1_Missense_Mutation_p.T383P|POU2F2_ENST00000560398.1_Missense_Mutation_p.T405P|POU2F2_ENST00000526816.2_Missense_Mutation_p.T399P|POU2F2_ENST00000342301.4_Missense_Mutation_p.T399P|POU2F2_ENST00000560558.1_Missense_Mutation_p.T344P	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	399					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CCCTGACCTGTTGTGCTCAGA	0.607													5	142	---	---	---	---	0	0
POU2F2	5452	broad.mit.edu	37	19	42597985	42597985	+	Silent	SNP	T	T	C			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:42597985T>C	ENST00000389341.5	-	12	1212	c.1146A>G	c.(1144-1146)acA>acG	p.T382T	POU2F2_ENST00000533720.1_Silent_p.T382T|POU2F2_ENST00000529952.1_Silent_p.T398T|POU2F2_ENST00000529067.1_Silent_p.T382T|POU2F2_ENST00000560398.1_Silent_p.T404T|POU2F2_ENST00000526816.2_Silent_p.T398T|POU2F2_ENST00000342301.4_Silent_p.T398T|POU2F2_ENST00000560558.1_Silent_p.T343T	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	398					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CCTGACCTGTTGTGCTCAGAC	0.612													5	141	---	---	---	---	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997772	46997772	+	Silent	SNP	C	C	T			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr19:46997772C>T	ENST00000599531.1	-	1	1983	c.951G>A	c.(949-951)caG>caA	p.Q317Q	AC011484.1_ENST00000377652.3_5'UTR|PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	317										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCCACTTTCCTGCGAGTCGC	0.597													10	86	---	---	---	---	0	0
DEFB118	117285	broad.mit.edu	37	20	29960700	29960700	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr20:29960700C>G	ENST00000253381.2	+	2	132	c.99C>G	c.(97-99)caC>caG	p.H33Q		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	33					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GATCAGGGCACTGCAGGAAAC	0.418													4	43	---	---	---	---	0	0
MEGF6	1953	broad.mit.edu	37	1	3422030	3422030	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:3422030C>T	ENST00000356575.4	-	16	2235	c.2009G>A	c.(2008-2010)aGc>aAc	p.S670N	MEGF6_ENST00000294599.4_Missense_Mutation_p.S565N	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	670						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCAGGAGCAGCTGCCATCCCT	0.706													3	17	---	---	---	---	0	0
UBR4	23352	broad.mit.edu	37	1	19480294	19480294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:19480294G>A	ENST00000375267.2	-	45	6601	c.6598C>T	c.(6598-6600)Cag>Tag	p.Q2200*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q2200*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2200					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTAATCTCCTGGATAAGAAAA	0.458													27	66	---	---	---	---	0	0
DOCK7	85440	broad.mit.edu	37	1	63048923	63048923	+	Silent	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:63048923T>C	ENST00000251157.5	-	16	1836	c.1803A>G	c.(1801-1803)gtA>gtG	p.V601V	DOCK7_ENST00000340370.5_Silent_p.V601V	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	601	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TACCAAAGATTACCTGAAACA	0.299													4	124	---	---	---	---	0	0
IFI16	3428	broad.mit.edu	37	1	159002391	159002391	+	Nonsense_Mutation	SNP	T	T	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:159002391T>A	ENST00000295809.7	+	7	1494	c.1239T>A	c.(1237-1239)taT>taA	p.Y413*	IFI16_ENST00000368132.3_Nonsense_Mutation_p.Y413*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Y357*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.Y413*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.Y413*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.Y413*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Y361*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	413			Y -> N (in dbSNP:rs1057028).		cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AGCTTCCATATCCTTCAGAGG	0.458													8	35	---	---	---	---	0	0
FUNDC2P2	0	broad.mit.edu	37	2	84518075	84518075	+	RNA	SNP	G	G	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr2:84518075G>A	ENST00000331369.5	+	0	269																											AAAGTATAGCGTGGCAACCCA	0.507													23	58	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179635207	179635207	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr2:179635207A>G	ENST00000589042.1	-	35	8536	c.8312T>C	c.(8311-8313)aTc>aCc	p.I2771T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I2771T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I2725T|TTN_ENST00000460472.2_Missense_Mutation_p.I2725T|TTN_ENST00000342992.6_Missense_Mutation_p.I2771T|TTN_ENST00000342175.6_Missense_Mutation_p.I2725T|TTN_ENST00000591111.1_Missense_Mutation_p.I2771T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2509			I -> M (in a breast infiltrating ductal carcinoma sample; somatic mutation).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATCCACGATGGCACAGTT	0.433													4	96	---	---	---	---	0	0
CAPN7	23473	broad.mit.edu	37	3	15292459	15292459	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr3:15292459G>T	ENST00000253693.2	+	20	2479	c.2226G>T	c.(2224-2226)gaG>gaT	p.E742D		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	742	Domain N.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTGGATTTGAGGTTGTAACAG	0.333													3	78	---	---	---	---	0	0
ABHD6	57406	broad.mit.edu	37	3	58279458	58279458	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr3:58279458T>G	ENST00000478253.1	+	10	1481	c.980T>G	c.(979-981)gTg>gGg	p.V327G	ABHD6_ENST00000295962.4_Missense_Mutation_p.V327G			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	327						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TTAGCTTCTGTGCACAACACA	0.537													10	36	---	---	---	---	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658389	33658389	+	Missense_Mutation	SNP	A	A	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr5:33658389A>T	ENST00000504830.1	-	7	1425	c.1090T>A	c.(1090-1092)Tct>Act	p.S364T	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S364T|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	364	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAAGGTGAGACAGGCCCAGG	0.507										HNSCC(64;0.19)			30	50	---	---	---	---	0	0
CCDC146	57639	broad.mit.edu	37	7	76885704	76885704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:76885704G>T	ENST00000285871.4	+	6	689	c.562G>T	c.(562-564)Gaa>Taa	p.E188*	CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	188										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATTACGTAAAGAAATAATGCA	0.294													6	26	---	---	---	---	0	0
PON3	5446	broad.mit.edu	37	7	94996690	94996690	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:94996690G>T	ENST00000265627.5	-	5	488	c.478C>A	c.(478-480)Cat>Aat	p.H160N	PON3_ENST00000451904.1_Missense_Mutation_p.H160N|PON3_ENST00000427422.1_Missense_Mutation_p.H160N|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			AGAAGTTCATGTTTTATAGTT	0.368													5	94	---	---	---	---	0	0
TP53INP1	0	broad.mit.edu	37	8	95952206	95952206	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr8:95952206T>C	ENST00000342697.4	-	3	762	c.355A>G	c.(355-357)Atg>Gtg	p.M119V	TP53INP1_ENST00000378776.4_Missense_Mutation_p.M119V|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.M119V	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	119					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AGGTTTTCCATAGGACTTGTT	0.488													10	45	---	---	---	---	0	0
ZEB1	6935	broad.mit.edu	37	10	31815612	31815612	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr10:31815612A>G	ENST00000446923.2	+	9	3138	c.2747A>G	c.(2746-2748)cAt>cGt	p.H916R	ZEB1_ENST00000560721.2_Missense_Mutation_p.H912R|ZEB1_ENST00000361642.5_Missense_Mutation_p.H933R|ZEB1_ENST00000320985.10_Missense_Mutation_p.H932R|ZEB1_ENST00000542815.3_Missense_Mutation_p.H865R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	932					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAAGACCTCATGAGTGTGGA	0.333													9	27	---	---	---	---	0	0
TSG101	7251	broad.mit.edu	37	11	18541081	18541081	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:18541081C>T	ENST00000536719.1	-	2	246	c.112G>A	c.(112-114)Gtt>Att	p.V38I	TSG101_ENST00000357193.3_Intron|TSG101_ENST00000251968.3_Missense_Mutation_p.V38I			Q99816	TS101_HUMAN	tumor susceptibility 101	38	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GAATCCAAAACAGGTTTGAGA	0.299													53	110	---	---	---	---	0	0
MUC15	143662	broad.mit.edu	37	11	26586956	26586956	+	Silent	SNP	A	A	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:26586956A>G	ENST00000436318.2	-	2	664	c.531T>C	c.(529-531)acT>acC	p.T177T	MUC15_ENST00000281268.8_Silent_p.T177T|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Silent_p.T150T|MUC15_ENST00000527569.1_Silent_p.T177T|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Silent_p.T177T|ANO3_ENST00000537978.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	150						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CCAAAGACCAAGTGAAGTTTT	0.443													24	87	---	---	---	---	0	0
PAMR1	25891	broad.mit.edu	37	11	35515649	35515649	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:35515649T>A	ENST00000378880.2	-	2	690	c.245A>T	c.(244-246)cAc>cTc	p.H82L	PAMR1_ENST00000278360.3_Missense_Mutation_p.H82L|PAMR1_ENST00000378878.3_Missense_Mutation_p.H82L|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Missense_Mutation_p.H42L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	82	Cys-rich.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CTCACCTGGGTGGATCAGGCA	0.527													8	69	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62296740	62296740	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:62296740T>A	ENST00000378024.4	-	5	5423	c.5149A>T	c.(5149-5151)Atg>Ttg	p.M1717L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1717					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACTTGGGCATTTTCATCTTG	0.507													8	299	---	---	---	---	0	0
C11orf30	56946	broad.mit.edu	37	11	76257110	76257110	+	Silent	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:76257110T>C	ENST00000529032.1	+	19	3543	c.3543T>C	c.(3541-3543)acT>acC	p.T1181T	C11orf30_ENST00000524767.1_Silent_p.T1196T|C11orf30_ENST00000524490.1_Silent_p.T1083T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Silent_p.T1182T|C11orf30_ENST00000334736.3_Silent_p.T1181T|C11orf30_ENST00000533248.1_Silent_p.T1090T|C11orf30_ENST00000525919.1_Silent_p.T1182T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1181					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCATGCTCACTGGTGAAGCAG	0.468													29	30	---	---	---	---	0	0
DSCAML1	57453	broad.mit.edu	37	11	117301609	117301609	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:117301609T>C	ENST00000321322.6	-	32	5696	c.5695A>G	c.(5695-5697)Agt>Ggt	p.S1899G	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1629G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1839					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCAGAGGAACTGTCAGAGATG	0.587													5	155	---	---	---	---	0	0
OR10G8	219869	broad.mit.edu	37	11	123900402	123900402	+	Missense_Mutation	SNP	C	C	T	rs147950397	byFrequency	TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:123900402C>T	ENST00000431524.1	+	1	106	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACGCCCCCCTCTTTGGAGT	0.582													38	108	---	---	---	---	0	0
CS	1431	broad.mit.edu	37	12	56679800	56679800	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr12:56679800T>C	ENST00000351328.3	-	3	291	c.101A>G	c.(100-102)aAa>aGa	p.K34R	CS_ENST00000548567.1_5'UTR|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.K230R|CS_ENST00000542324.2_Missense_Mutation_p.K21R	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	34					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CAATATGTCTTTCAAATTCTA	0.403													12	81	---	---	---	---	0	0
PLXNC1	10154	broad.mit.edu	37	12	94641683	94641683	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr12:94641683C>A	ENST00000258526.4	+	13	2642	c.2393C>A	c.(2392-2394)tCt>tAt	p.S798Y		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	798					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTCCAGGTCTCTGAATATTGT	0.423													6	106	---	---	---	---	0	0
F7	2155	broad.mit.edu	37	13	113772752	113772752	+	Silent	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr13:113772752C>T	ENST00000375581.3	+	9	866	c.831C>T	c.(829-831)gaC>gaT	p.D277D	F7_ENST00000346342.3_Silent_p.D255D|F7_ENST00000541084.1_Silent_p.D208D	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	277	Peptidase S1.		D -> N (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCGAGCACGACGGGGATGAGC	0.682													13	38	---	---	---	---	0	0
AKT1	207	broad.mit.edu	37	14	105239420	105239420	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr14:105239420C>A	ENST00000554581.1	-	10	2447	c.967G>T	c.(967-969)Gac>Tac	p.D323Y	AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000554192.1_Intron|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y|AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	323	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGTCATTGTCCTCCAGCACC	0.632		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								5	48	---	---	---	---	0	0
PALB2	79728	broad.mit.edu	37	16	23632759	23632759	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr16:23632759T>C	ENST00000261584.4	-	10	3189	c.3037A>G	c.(3037-3039)Ata>Gta	p.I1013V	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1013	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AAAGTTAGTATAGTCTCCTCA	0.408			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					5	56	---	---	---	---	0	0
ACACA	31	broad.mit.edu	37	17	35536315	35536315	+	Silent	SNP	A	A	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr17:35536315A>T	ENST00000353139.5	-	41	5446	c.4965T>A	c.(4963-4965)acT>acA	p.T1655T	ACACA_ENST00000360679.3_Silent_p.T1560T|ACACA_ENST00000335166.5_Silent_p.T1540T|ACACA_ENST00000394406.2_Silent_p.T1618T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1618					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAATGCTTGAGTGGACATAG	0.413													9	34	---	---	---	---	0	0
LAMA3	3909	broad.mit.edu	37	18	21330980	21330980	+	Silent	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr18:21330980T>C	ENST00000313654.9	+	5	1024	c.783T>C	c.(781-783)cgT>cgC	p.R261R	LAMA3_ENST00000399516.3_Silent_p.R261R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	261	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCGCTTGCGTTTTCTTAGAA	0.468													4	98	---	---	---	---	0	0
DUS3L	56931	broad.mit.edu	37	19	5790154	5790154	+	Silent	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr19:5790154T>C	ENST00000309061.7	-	2	387	c.291A>G	c.(289-291)ctA>ctG	p.L97L	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	97					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCTGAGTCTGTAGCTGCTCCC	0.627													15	37	---	---	---	---	0	0
MED15	51586	broad.mit.edu	37	22	20937036	20937036	+	Splice_Site	SNP	T	T	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr22:20937036T>A	ENST00000263205.7	+	10	1478		c.e10+2		MED15_ENST00000541476.1_Splice_Site|MED15_ENST00000478831.1_Intron|MED15_ENST00000406969.1_Splice_Site|MED15_ENST00000542773.1_Intron|MED15_ENST00000382974.2_Splice_Site|MED15_ENST00000425759.2_Splice_Site|MED15_ENST00000292733.7_Splice_Site	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAACGTCAGGTAGGCCTGGCC	0.716													4	38	---	---	---	---	0	0
LRRC7	57554	broad.mit.edu	37	1	70484494	70484494	+	Silent	SNP	T	T	C			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr1:70484494T>C	ENST00000310961.5	+	16	1732	c.1314T>C	c.(1312-1314)ggT>ggC	p.G438G	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Silent_p.G433G			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	433						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCCTCGTGGTGATGAAGGTA	0.393													8	27	---	---	---	---	0	0
XDH	7498	broad.mit.edu	37	2	31604515	31604515	+	Silent	SNP	C	C	T			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr2:31604515C>T	ENST00000379416.3	-	12	1164	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	372	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACACAAGTGTCAGCTTGGCCC	0.537													4	18	---	---	---	---	0	0
NYAP2	57624	broad.mit.edu	37	2	226378223	226378223	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr2:226378223T>C	ENST00000272907.6	+	3	771	c.358T>C	c.(358-360)Tcc>Ccc	p.S120P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	120																	GAGATCACAGTCCCTGCACTC	0.567													3	29	---	---	---	---	0	0
KIF1A	547	broad.mit.edu	37	2	241658545	241658545	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr2:241658545C>T	ENST00000498729.2	-	47	5338	c.5092G>A	c.(5092-5094)Gtg>Atg	p.V1698M	KIF1A_ENST00000320389.7_Missense_Mutation_p.V1597M	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1597					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCACCACCACGAAGCGCCTG	0.632													39	109	---	---	---	---	0	0
ATP2B2	491	broad.mit.edu	37	3	10443891	10443891	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr3:10443891C>T	ENST00000397077.1	-	6	1114	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	ATP2B2_ENST00000360273.2_Missense_Mutation_p.R180Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R180Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	180					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGCAGGCCCCGGAACTGTTT	0.587													5	139	---	---	---	---	0	0
RBM46	166863	broad.mit.edu	37	4	155719382	155719382	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr4:155719382T>G	ENST00000510397.1	+	3	750	c.571T>G	c.(571-573)Tat>Gat	p.Y191D	RBM46_ENST00000514866.1_Missense_Mutation_p.Y191D|RBM46_ENST00000281722.3_Missense_Mutation_p.Y191D	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	191	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATTTGTGGAATATGAATCTCA	0.343													15	34	---	---	---	---	0	0
CTNNA1	1495	broad.mit.edu	37	5	138163328	138163328	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr5:138163328A>G	ENST00000302763.7	+	7	1073	c.983A>G	c.(982-984)gAc>gGc	p.D328G	CTNNA1_ENST00000355078.5_Missense_Mutation_p.D225G|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D328G	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	328	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACGCGTGATGACCGTCGTGAG	0.567													3	39	---	---	---	---	0	0
TBC1D32	221322	broad.mit.edu	37	6	121604993	121604993	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr6:121604993C>T	ENST00000275159.6	-	13	1435	c.1436G>A	c.(1435-1437)tGt>tAt	p.C479Y	TBC1D32_ENST00000398212.2_Missense_Mutation_p.C479Y					TBC1 domain family, member 32																		CATCTTTGGACAACTTGGTGA	0.289													5	26	---	---	---	---	0	0
TMEM181	57583	broad.mit.edu	37	6	159046201	159046201	+	Silent	SNP	G	G	A			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr6:159046201G>A	ENST00000367090.3	+	12	1442	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	477					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCTTGATAGTGCGGGCGTGTT	0.537													5	99	---	---	---	---	0	0
TRBV4-2	0	broad.mit.edu	37	7	142045528	142045528	+	RNA	SNP	T	T	A			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr7:142045528T>A	ENST00000390392.3	+	0	167																											GCAGTCCCCATGGAAACGGGA	0.473													22	96	---	---	---	---	0	0
CSPP1	79848	broad.mit.edu	37	8	68087551	68087551	+	Silent	SNP	C	C	T			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr8:68087551C>T	ENST00000262210.5	+	24	3005	c.2974C>T	c.(2974-2976)Ctg>Ttg	p.L992L	ARFGEF1_ENST00000520381.1_3'UTR|CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Silent_p.L647L	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1027						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACGAGTTGATCTGAAATTTAT	0.353													12	54	---	---	---	---	0	0
SEC31B	25956	broad.mit.edu	37	10	102257878	102257878	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr10:102257878C>A	ENST00000370345.3	-	15	1868	c.1771G>T	c.(1771-1773)Gat>Tat	p.D591Y	SEC31B_ENST00000494350.1_5'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	591					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATAATGGCATCAGCAAAGCGC	0.557													13	33	---	---	---	---	0	0
MGMT	4255	broad.mit.edu	37	10	131506294	131506294	+	Silent	SNP	C	C	A	rs144397748		TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr10:131506294C>A	ENST00000306010.7	+	3	386	c.354C>A	c.(352-354)ccC>ccA	p.P118P	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	118										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		TTCACCATCCCGTTTTCCAGC	0.527								Direct reversal of damage					4	84	---	---	---	---	0	0
OR5M10	390167	broad.mit.edu	37	11	56344294	56344294	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr11:56344294G>C	ENST00000526812.2	-	1	969	c.904C>G	c.(904-906)Caa>Gaa	p.Q302E		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATCATTTGTTGTATGGCAAGG	0.378													5	169	---	---	---	---	0	0
TBK1	29110	broad.mit.edu	37	12	64890177	64890177	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr12:64890177A>G	ENST00000331710.5	+	16	2090	c.1751A>G	c.(1750-1752)aAa>aGa	p.K584R		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	584					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CAAATCCACAAATTTGATAAG	0.214													3	69	---	---	---	---	0	0
MAP3K3	4215	broad.mit.edu	37	17	61744336	61744336	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr17:61744336G>T	ENST00000361357.3	+	7	829	c.511G>T	c.(511-513)Gtg>Ttg	p.V171L	MAP3K3_ENST00000577395.1_Missense_Mutation_p.V140L|MAP3K3_ENST00000584573.1_Missense_Mutation_p.V171L|MAP3K3_ENST00000361733.3_Missense_Mutation_p.V140L|MAP3K3_ENST00000579585.1_Missense_Mutation_p.V171L	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	140					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GTCCAGACAGGTGCGGATCAA	0.517													3	39	---	---	---	---	0	0
SLC35E1	79939	broad.mit.edu	37	19	16664533	16664533	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr19:16664533T>C	ENST00000595753.1	-	6	1207	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	397					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TGGGTAGCTCTGCCGGCTGTA	0.562													5	103	---	---	---	---	0	0
GPCPD1	56261	broad.mit.edu	37	20	5556578	5556578	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr20:5556578T>C	ENST00000379019.4	-	9	964	c.752A>G	c.(751-753)cAt>cGt	p.H251R	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	251					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGTACCCACATGTCCAGGAAG	0.398													12	28	---	---	---	---	0	0
HCK	3055	broad.mit.edu	37	20	30681780	30681780	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr20:30681780G>A	ENST00000534862.1	+	12	1510	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	HCK_ENST00000518730.1_Missense_Mutation_p.A381T|HCK_ENST00000375862.2_Missense_Mutation_p.A402T|HCK_ENST00000520553.1_Missense_Mutation_p.A382T|HCK_ENST00000538448.1_Missense_Mutation_p.A382T|HCK_ENST00000375852.2_Missense_Mutation_p.A403T	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	403	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTTGGCCTGGCCCGGGTCAT	0.567													25	36	---	---	---	---	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74649266	74649266	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:74649266A>C	ENST00000354431.4	-	2	294	c.103T>G	c.(103-105)Ttc>Gtc	p.F35V	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.F35V	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	35			F -> C (in dbSNP:rs2274904).							NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						aggccattgaacttcacaaaa	0.338													5	12	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228433234	228433234	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:228433234A>G	ENST00000570156.2	+	13	3952	c.3878A>G	c.(3877-3879)aAg>aGg	p.K1293R	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.K1201R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1201R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	273	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGTGGTACAAGGACGGGAAG	0.597													36	99	---	---	---	---	0	0
IGKV1D-43	0	broad.mit.edu	37	2	90248930	90248930	+	RNA	SNP	G	G	C			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr2:90248930G>C	ENST00000468879.1	+	0	192																											ATGGACATGAGGGTGCCCGCT	0.567													25	158	---	---	---	---	0	0
DRD3	1814	broad.mit.edu	37	3	113850057	113850057	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr3:113850057C>G	ENST00000383673.2	-	6	1344	c.914G>C	c.(913-915)aGa>aCa	p.R305T	DRD3_ENST00000467632.1_Missense_Mutation_p.R305T|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000460779.1_Missense_Mutation_p.R305T	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	305					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGTCGATAATCTGCCATTGCT	0.517													18	169	---	---	---	---	0	0
PPAP2A	8611	broad.mit.edu	37	5	54771251	54771251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr5:54771251G>T	ENST00000307259.8	-	2	506	c.86C>A	c.(85-87)tCa>tAa	p.S29*	PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000264775.5_Intron	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	29					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GGTATGCCTTGAAGTAAGAAT	0.348													3	18	---	---	---	---	0	0
NOTCH4	4855	broad.mit.edu	37	6	32180925	32180925	+	Missense_Mutation	SNP	T	T	C	rs34199829		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:32180925T>C	ENST00000375023.3	-	15	2563	c.2425A>G	c.(2425-2427)Agc>Ggc	p.S809G	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	809	EGF-like 21.		S -> I (in dbSNP:rs3132961).		cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCTGCACAGCTGGGGCGGAGC	0.637													4	64	---	---	---	---	0	0
SYNE1	23345	broad.mit.edu	37	6	152651002	152651002	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:152651002T>G	ENST00000367255.5	-	78	15419	c.14818A>C	c.(14818-14820)Atc>Ctc	p.I4940L	SYNE1_ENST00000448038.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4940L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4687L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4869L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4940					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATTCATGATTCTCAAGCTG	0.493										HNSCC(10;0.0054)			68	137	---	---	---	---	0	0
AGPAT4	56895	broad.mit.edu	37	6	161560578	161560578	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:161560578C>G	ENST00000320285.4	-	8	1130	c.918G>C	c.(916-918)tgG>tgC	p.W306C	AGPAT4_ENST00000457520.2_Missense_Mutation_p.W144C|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	306					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TCACGAGGGTCCAGGGCCGCC	0.627													24	92	---	---	---	---	0	0
PEX2	5828	broad.mit.edu	37	8	77895775	77895775	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr8:77895775G>A	ENST00000419564.2	-	4	1104	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	PEX2_ENST00000520103.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000357039.4_Nonsense_Mutation_p.Q214*	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	214					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TTCAACTTCTGGACATTGATA	0.398													13	96	---	---	---	---	0	0
SVEP1	79987	broad.mit.edu	37	9	113312165	113312165	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr9:113312165C>A	ENST00000401783.2	-	2	1087	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.E228*|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.E251*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.E228*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	251	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCTCAAATTCTTCAAAACTG	0.463													6	22	---	---	---	---	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422959	37422959	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr10:37422959G>T	ENST00000374660.1	+	5	664	c.565G>T	c.(565-567)Gct>Tct	p.A189S	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A189S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A189S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	245						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAACATTATGCTGTTACTTG	0.373													53	104	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92577145	92577145	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr11:92577145C>T	ENST00000298047.6	+	18	10629	c.10612C>T	c.(10612-10614)Cgc>Tgc	p.R3538C	FAT3_ENST00000409404.2_Missense_Mutation_p.R3538C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3538	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACTTACATCCGCGTGCGAGT	0.468										TCGA Ovarian(4;0.039)			11	284	---	---	---	---	0	0
MTNR1B	4544	broad.mit.edu	37	11	92702949	92702949	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr11:92702949C>T	ENST00000257068.2	+	1	64	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	20					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GGCAGTGCGCCCGGGCTGGTC	0.741													6	38	---	---	---	---	0	0
LYSMD4	145748	broad.mit.edu	37	15	100269696	100269696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr15:100269696G>A	ENST00000545021.1	-	4	959	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000409796.1_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.Q176*|LYSMD4_ENST00000604213.1_Intron			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	175					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TCAATATCCTGGTCAATCCCC	0.582													35	100	---	---	---	---	0	0
TLDC1	57707	broad.mit.edu	37	16	84516283	84516283	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr16:84516283G>A	ENST00000343629.6	-	6	1174	c.992C>T	c.(991-993)cCc>cTc	p.P331L	TLDC1_ENST00000535580.1_Missense_Mutation_p.P304L	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		AGCCATGCTGGGGCAGATGGA	0.562													3	43	---	---	---	---	0	0
CHD3	1107	broad.mit.edu	37	17	7811746	7811746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:7811746G>T	ENST00000380358.4	+	35	5357	c.5356G>T	c.(5356-5358)Gaa>Taa	p.E1786*	CHD3_ENST00000330494.7_Nonsense_Mutation_p.E1727*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.E1693*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1727	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCAGAATGAGGAACGGGCAGC	0.488													4	8	---	---	---	---	0	0
MYH10	4628	broad.mit.edu	37	17	8480573	8480573	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:8480573C>T	ENST00000360416.3	-	5	752	c.614G>A	c.(613-615)aGa>aAa	p.R205K	MYH10_ENST00000396239.1_Missense_Mutation_p.R205K|MYH10_ENST00000379980.4_Missense_Mutation_p.R205K|MYH10_ENST00000269243.4_Missense_Mutation_p.R205K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	205	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATGGTCCTTTCTTCCTTTATG	0.353													30	23	---	---	---	---	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16843654	16843654	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:16843654G>A	ENST00000437538.2	-	3	487	c.479C>T	c.(478-480)gCc>gTc	p.A160V	TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.A160V|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.A206V			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	206					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GGAAGACTTGGCCGGACTTTG	0.657									IgA Deficiency, Selective				57	106	---	---	---	---	0	0
FAM83G	644815	broad.mit.edu	37	17	18875037	18875037	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:18875037C>A	ENST00000388995.6	-	6	2330	c.2107G>T	c.(2107-2109)Gtc>Ttc	p.V703F	SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V703F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V703F			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	703										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GAGGCAGGGACCCTGTGATGA	0.622													27	53	---	---	---	---	0	0
MAST1	22983	broad.mit.edu	37	19	12954360	12954360	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr19:12954360G>C	ENST00000251472.4	+	4	305	c.266G>C	c.(265-267)tGg>tCg	p.W89S	MAST1_ENST00000591495.1_Missense_Mutation_p.W85S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	89					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGACGCCGGTGGTCTCTGGCC	0.657													46	67	---	---	---	---	0	0
TCF20	6942	broad.mit.edu	37	22	42608481	42608481	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr22:42608481T>A	ENST00000359486.3	-	1	2967	c.2831A>T	c.(2830-2832)aAc>aTc	p.N944I	TCF20_ENST00000335626.4_Missense_Mutation_p.N944I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	944					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AGATTTCTTGTTGTTGAAACT	0.493													24	83	---	---	---	---	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685925	125685925	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chrX:125685925C>G	ENST00000371126.1	-	1	909	c.667G>C	c.(667-669)Gac>Cac	p.D223H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	223										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTGTCCGGGTCCATCCGCCAC	0.657													6	40	---	---	---	---	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887308	12887308	+	Silent	SNP	C	C	T			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr1:12887308C>T	ENST00000535591.1	-	3	744	c.549G>A	c.(547-549)caG>caA	p.Q183Q		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	183								p.Q183H(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGGGGTAAACTGTGTCAGGA	0.498													9	324	---	---	---	---	0	0
NEK4	6787	broad.mit.edu	37	3	52786023	52786023	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr3:52786023G>C	ENST00000233027.5	-	7	1495	c.1293C>G	c.(1291-1293)gaC>gaG	p.D431E	NEK4_ENST00000535191.1_Missense_Mutation_p.D342E|NEK4_ENST00000383721.4_Missense_Mutation_p.D431E	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	431					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CAGTGACAATGTCAGAGGACC	0.468													63	149	---	---	---	---	0	0
IFT122	55764	broad.mit.edu	37	3	129182397	129182397	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr3:129182397T>C	ENST00000504021.1	+	4	297	c.203T>C	c.(202-204)aTt>aCt	p.I68T	IFT122_ENST00000347300.2_Intron|IFT122_ENST00000296266.3_Intron|IFT122_ENST00000348417.2_Intron|IFT122_ENST00000431818.2_Intron|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000440957.2_Intron			Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	99					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTATTGTGCATTGAAGGGTTG	0.388													22	49	---	---	---	---	0	0
DZIP1L	199221	broad.mit.edu	37	3	137802957	137802957	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr3:137802957T>A	ENST00000327532.2	-	8	1563	c.1201A>T	c.(1201-1203)Atg>Ttg	p.M401L	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Missense_Mutation_p.M401L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	401						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						AGACCTACCATCTCCTCCTGG	0.567													20	65	---	---	---	---	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95204449	95204449	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr4:95204449G>T	ENST00000354268.4	+	22	2977	c.2904G>T	c.(2902-2904)caG>caT	p.Q968H	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.Q538H|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.Q970H			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	968	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GAGTAGGCCAGACTAAGTAAG	0.333													3	36	---	---	---	---	0	0
SUSD1	64420	broad.mit.edu	37	9	114820961	114820961	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr9:114820961T>C	ENST00000374270.3	-	14	2028	c.1856A>G	c.(1855-1857)tAt>tGt	p.Y619C	SUSD1_ENST00000374264.2_Missense_Mutation_p.Y619C|SUSD1_ENST00000374263.3_Missense_Mutation_p.Y619C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	619						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TAACACCTGATATGAACTGGA	0.453													8	50	---	---	---	---	0	0
MIR100	0	broad.mit.edu	37	11	122023002	122023002	+	RNA	SNP	G	G	A			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr11:122023002G>A	ENST00000385259.1	-	0	14					NR_029515.1																						GGATCTACGGGTTTGTGGCAA	0.418													12	49	---	---	---	---	0	0
ETV6	2120	broad.mit.edu	37	12	12038866	12038866	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr12:12038866A>G	ENST00000396373.4	+	7	1433	c.1159A>G	c.(1159-1161)Aca>Gca	p.T387A		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	387						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACAGAACAGAACAAACATGAC	0.418			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								7	74	---	---	---	---	0	0
TMEM5	10329	broad.mit.edu	37	12	64174844	64174844	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr12:64174844A>G	ENST00000261234.6	+	2	373	c.215A>G	c.(214-216)gAt>gGt	p.D72G	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	72						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGGGAAGGAGATGAAAAAAAT	0.348													19	51	---	---	---	---	0	0
VSIG10	54621	broad.mit.edu	37	12	118533490	118533490	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr12:118533490T>C	ENST00000359236.5	-	2	485	c.209A>G	c.(208-210)aAc>aGc	p.N70S	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	70	Ig-like C2-type 1.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GAGGCTAGAGTTGGACGAGAG	0.572													10	24	---	---	---	---	0	0
PACS2	23241	broad.mit.edu	37	14	105818770	105818770	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr14:105818770T>C	ENST00000447393.1	+	3	438	c.263T>C	c.(262-264)gTg>gCg	p.V88A	PACS2_ENST00000325438.8_Missense_Mutation_p.V88A|PACS2_ENST00000458164.2_Missense_Mutation_p.V88A|PACS2_ENST00000430725.2_Missense_Mutation_p.V21A|PACS2_ENST00000547217.1_Intron	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	88					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGTGGACAAGTGGAGACAGAC	0.567											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	93	---	---	---	---	0	0
ADAM10	102	broad.mit.edu	37	15	58925526	58925526	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr15:58925526G>A	ENST00000260408.3	-	9	1488	c.1045C>T	c.(1045-1047)Ctc>Ttc	p.L349F	ADAM10_ENST00000402627.1_Missense_Mutation_p.L48F|ADAM10_ENST00000396140.2_Missense_Mutation_p.L48F|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	349	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TCTGAATAGAGTTTACTTTTT	0.368													17	46	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7577102	7577102	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr17:7577102C>T	ENST00000420246.2	-	8	968	c.836G>A	c.(835-837)gGg>gAg	p.G279E	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000445888.2_Missense_Mutation_p.G279E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTCTCTCCCAGGACAGGC	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	7	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9049442	9049442	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr19:9049442G>A	ENST00000397910.4	-	5	32392	c.32189C>T	c.(32188-32190)tCa>tTa	p.S10730L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10732	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCACCAGGTGAGACAGTCAT	0.453													58	157	---	---	---	---	0	0
CLCN5	1184	broad.mit.edu	37	X	49689925	49689925	+	Splice_Site	SNP	G	G	T			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chrX:49689925G>T	ENST00000376088.3	+	3	657		c.e3+1		CLCN5_ENST00000376091.3_Splice_Site|CLCN5_ENST00000482218.2_Splice_Site	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5						excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATGTGGCAGGGTAAGAAATTA	0.507													19	25	---	---	---	---	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337277	144337277	+	Silent	SNP	T	T	C			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chrX:144337277T>C	ENST00000370493.3	+	2	921	c.162T>C	c.(160-162)ttT>ttC	p.F54F		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	54										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TATTAGCGTTTTGCTACAGGA	0.433													3	56	---	---	---	---	0	0
VAV3	10451	broad.mit.edu	37	1	108231002	108231002	+	Splice_Site	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:108231002C>T	ENST00000370056.4	-	18	2006		c.e18+1		VAV3_ENST00000544443.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000415432.2_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GTTAATCTTACCTCTGGTAGT	0.328													14	28	---	---	---	---	0	0
CA14	23632	broad.mit.edu	37	1	150234607	150234607	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:150234607T>A	ENST00000369111.4	+	4	1277	c.307T>A	c.(307-309)Tat>Aat	p.Y103N		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	103						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCCGAAAATATGTAGCTGC	0.537													5	96	---	---	---	---	0	0
CD1C	911	broad.mit.edu	37	1	158262542	158262542	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:158262542C>T	ENST00000368170.3	+	4	1046	c.767C>T	c.(766-768)cCt>cTt	p.P256L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	256	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GATATTCTTCCTAATGCTGAT	0.527													25	57	---	---	---	---	0	0
IFI16	3428	broad.mit.edu	37	1	158988127	158988127	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:158988127A>G	ENST00000295809.7	+	5	913	c.658A>G	c.(658-660)Acc>Gcc	p.T220A	IFI16_ENST00000359709.3_Missense_Mutation_p.T164A|IFI16_ENST00000368132.3_Missense_Mutation_p.T220A|IFI16_ENST00000448393.2_Missense_Mutation_p.T220A|IFI16_ENST00000340979.6_Missense_Mutation_p.T220A|IFI16_ENST00000368131.4_Missense_Mutation_p.T220A|IFI16_ENST00000430894.2_Missense_Mutation_p.T168A			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	220	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGAATATGAGACCCCAGAAAT	0.403													28	29	---	---	---	---	0	0
OR10J3	441911	broad.mit.edu	37	1	159284004	159284004	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:159284004G>A	ENST00000332217.5	-	1	445	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AATCCCCAGTGATCCAGAGGC	0.512													7	50	---	---	---	---	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012031	160012031	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:160012031C>G	ENST00000368089.3	-	2	518	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	98						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGTCCAGCTCCAGCAGGTCC	0.582													26	56	---	---	---	---	0	0
NDUFS2	4720	broad.mit.edu	37	1	161179951	161179951	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:161179951C>G	ENST00000392179.4	+	7	992	c.753C>G	c.(751-753)ttC>ttG	p.F251L	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000367993.3_Missense_Mutation_p.F251L|NDUFS2_ENST00000476409.2_Missense_Mutation_p.F153L	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	251					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	CTAAGAACTTCTCTCTTCGGC	0.448											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	23	---	---	---	---	0	0
MFSD9	84804	broad.mit.edu	37	2	103353178	103353178	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:103353178T>A	ENST00000258436.5	-	1	135	c.92A>T	c.(91-93)gAg>gTg	p.E31V		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	31					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGCCTCCGCCTCGGTTCCTGT	0.672													6	26	---	---	---	---	0	0
MYO7B	4648	broad.mit.edu	37	2	128335737	128335737	+	Silent	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:128335737C>T	ENST00000389524.4	+	9	932	c.879C>T	c.(877-879)aaC>aaT	p.N293N	MYO7B_ENST00000428314.1_Silent_p.N293N|MYO7B_ENST00000409816.2_Silent_p.N293N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	293	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGGGCTCAACGACGCCAAGG	0.632													9	16	---	---	---	---	0	0
XIRP2	129446	broad.mit.edu	37	2	168115485	168115485	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:168115485G>T	ENST00000409728.1	+	11	2617	c.2528G>T	c.(2527-2529)gGa>gTa	p.G843V	XIRP2_ENST00000409756.2_Missense_Mutation_p.G810V|XIRP2_ENST00000420519.1_Missense_Mutation_p.G843V|XIRP2_ENST00000409043.1_Missense_Mutation_p.G810V|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.G588V	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTAAAGGGGGGAAGTTCAATC	0.438													3	21	---	---	---	---	0	0
TLK1	9874	broad.mit.edu	37	2	171884862	171884862	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:171884862C>G	ENST00000442919.2	-	12	1694	c.1079G>C	c.(1078-1080)gGa>gCa	p.G360A	TLK1_ENST00000521943.1_Missense_Mutation_p.G360A|TLK1_ENST00000434911.2_Missense_Mutation_p.G312A|TLK1_ENST00000360843.3_Missense_Mutation_p.G429A|TLK1_ENST00000431350.2_Missense_Mutation_p.G408A	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	408					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTGAGATGTCCTAGTCTAAG	0.303													5	22	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179485645	179485645	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:179485645A>G	ENST00000589042.1	-	247	45916	c.45692T>C	c.(45691-45693)gTc>gCc	p.V15231A	TTN_ENST00000359218.5_Missense_Mutation_p.V6291A|TTN_ENST00000342992.6_Missense_Mutation_p.V12663A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V6166A|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V13590A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6358A|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13590	Fibronectin type-III 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGTATTGACTTCACAGTT	0.403													10	55	---	---	---	---	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802145	185802145	+	Nonsense_Mutation	SNP	T	T	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:185802145T>A	ENST00000302277.6	+	4	2616	c.2022T>A	c.(2020-2022)tgT>tgA	p.C674*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	674						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGAAATGTGTAAAACATGGA	0.318													6	93	---	---	---	---	0	0
FAM134A	79137	broad.mit.edu	37	2	220046151	220046151	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:220046151A>T	ENST00000430297.2	+	7	981	c.845A>T	c.(844-846)gAa>gTa	p.E282V		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	282						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGAGAGTGAAAGCGAGGCA	0.532													14	45	---	---	---	---	0	0
KALRN	8997	broad.mit.edu	37	3	124374511	124374511	+	Silent	SNP	G	G	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:124374511G>T	ENST00000291478.5	+	6	928	c.765G>T	c.(763-765)gtG>gtT	p.V255V	KALRN_ENST00000428018.2_Silent_p.V223V|KALRN_ENST00000459915.1_Silent_p.V44V|KALRN_ENST00000393496.1_Silent_p.V293V|KALRN_ENST00000360013.3_Silent_p.V1952V	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCATTGTGGTGGAGGTAAGTA	0.493													8	62	---	---	---	---	0	0
ZNF148	7707	broad.mit.edu	37	3	124951540	124951540	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:124951540C>A	ENST00000360647.4	-	9	2515	c.2030G>T	c.(2029-2031)gGa>gTa	p.G677V	ZNF148_ENST00000484491.1_Missense_Mutation_p.G677V|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.G677V|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.G677V	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	677					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AACTATTAGTCCAAAGTGGGA	0.438													52	87	---	---	---	---	0	0
ASTE1	28990	broad.mit.edu	37	3	130743334	130743334	+	Silent	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:130743334G>A	ENST00000264992.3	-	3	1258	c.817C>T	c.(817-819)Cta>Tta	p.L273L	ASTE1_ENST00000514044.1_Silent_p.L273L	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	273					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACATTATCTAGTGCTTCGGTA	0.458													20	49	---	---	---	---	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928235	178928235	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:178928235A>C	ENST00000263967.3	+	9	1578	c.1421A>C	c.(1420-1422)gAg>gCg	p.E474A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	474	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCATGCTTAGAGTTGGAGTTT	0.373		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			37	53	---	---	---	---	0	0
TRIM60	166655	broad.mit.edu	37	4	165962535	165962535	+	Silent	SNP	C	C	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr4:165962535C>G	ENST00000512596.1	+	3	1527	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	TRIM60_ENST00000341062.5_Silent_p.L437L|TRIM60_ENST00000508504.1_Silent_p.L437L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	437	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGTCTATTCTCTATACTTTTA	0.358													36	88	---	---	---	---	0	0
EDIL3	10085	broad.mit.edu	37	5	83476237	83476237	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr5:83476237C>A	ENST00000296591.5	-	4	747	c.329G>T	c.(328-330)gGa>gTa	p.G110V	EDIL3_ENST00000380138.3_Missense_Mutation_p.G100V	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	110	EGF-like 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CCCATTAAATCCTCGGGGACA	0.378													7	51	---	---	---	---	0	0
PCDHGA9	0	broad.mit.edu	37	5	140783471	140783471	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr5:140783471G>C	ENST00000573521.1	+	1	952	c.952G>C	c.(952-954)Gaa>Caa	p.E318Q	PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATGAAATGGAAATACAAGC	0.358													79	67	---	---	---	---	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212575	149212575	+	Silent	SNP	C	C	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr5:149212575C>G	ENST00000309241.5	+	5	971	c.939C>G	c.(937-939)ccC>ccG	p.P313P	PPARGC1B_ENST00000360453.4_Silent_p.P274P|PPARGC1B_ENST00000394320.3_Silent_p.P313P|PPARGC1B_ENST00000403750.1_Silent_p.P249P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	313					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCCACTCCCCAAGGCCTGCA	0.627													8	73	---	---	---	---	0	0
DPPA5	340168	broad.mit.edu	37	6	74063588	74063588	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr6:74063588G>A	ENST00000370370.3	-	2	349	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	94					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						CGCTCCTGGCGCTGGCGGTGC	0.632													5	21	---	---	---	---	0	0
CACNA2D1	781	broad.mit.edu	37	7	81714091	81714091	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr7:81714091A>C	ENST00000356860.3	-	7	990	c.652T>G	c.(652-654)Tat>Gat	p.Y218D	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.Y218D|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Y218D	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	218						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTACCTGGATAATATCGAGCT	0.418													19	35	---	---	---	---	0	0
GRM8	0	broad.mit.edu	37	7	126086370	126086370	+	Silent	SNP	A	A	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr7:126086370A>T	ENST00000339582.2	-	10	3295	c.2487T>A	c.(2485-2487)tcT>tcA	p.S829S	GRM8_ENST00000444921.2_Silent_p.S829S|GRM8_ENST00000358373.3_Silent_p.S829S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	829					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCATGCCCAGAGATACTGAAG	0.398										HNSCC(24;0.065)			30	49	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151855999	151855999	+	Silent	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr7:151855999C>T	ENST00000355193.2	-	44	11837	c.11619G>A	c.(11617-11619)gaG>gaA	p.E3873E	KMT2C_ENST00000262189.6_Silent_p.E3873E					lysine (K)-specific methyltransferase 2C																		CTTGTTTCTCCTCTTCGTCCT	0.458													55	227	---	---	---	---	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412425	110412425	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr8:110412425C>A	ENST00000378402.5	+	13	1237	c.1133C>A	c.(1132-1134)tCc>tAc	p.S378Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	378					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTCAGCTTCCTATATTTGG	0.423										HNSCC(38;0.096)			19	350	---	---	---	---	0	0
PBX3	5090	broad.mit.edu	37	9	128724390	128724390	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr9:128724390G>A	ENST00000373487.4	+	8	1162	c.1082G>A	c.(1081-1083)gGt>gAt	p.G361D	PBX3_ENST00000373483.2_Missense_Mutation_p.G159D|PBX3_ENST00000373489.5_Missense_Mutation_p.G340D|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000538998.1_Intron|PBX3_ENST00000447726.2_Missense_Mutation_p.G265D			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	340					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GGTTCTTCTGGTTCTTTTAAC	0.443													7	23	---	---	---	---	0	0
CARD9	64170	broad.mit.edu	37	9	139265071	139265071	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr9:139265071G>C	ENST00000371732.5	-	5	875	c.710C>G	c.(709-711)gCc>gGc	p.A237G	CARD9_ENST00000371734.3_Missense_Mutation_p.A237G|CARD9_ENST00000315908.7_Missense_Mutation_p.A237G	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	237					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTGCTCCATGGCGTGCCTGAG	0.652													7	40	---	---	---	---	0	0
GRIN1	2902	broad.mit.edu	37	9	140051399	140051399	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr9:140051399A>T	ENST00000371561.3	+	6	1975	c.878A>T	c.(877-879)cAc>cTc	p.H293L	GRIN1_ENST00000371546.4_Missense_Mutation_p.H314L|GRIN1_ENST00000371555.4_Missense_Mutation_p.H314L|GRIN1_ENST00000371550.4_Missense_Mutation_p.H293L|GRIN1_ENST00000371559.4_Missense_Mutation_p.H293L|GRIN1_ENST00000315048.3_Missense_Mutation_p.H293L|GRIN1_ENST00000371560.3_Missense_Mutation_p.H314L|GRIN1_ENST00000350902.5_Missense_Mutation_p.H293L|GRIN1_ENST00000371553.3_Missense_Mutation_p.H314L|GRIN1_ENST00000471122.1_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	293					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CAGGCCGTGCACGAGCTCCTC	0.672													12	18	---	---	---	---	0	0
GIF	2694	broad.mit.edu	37	11	59611368	59611368	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr11:59611368C>T	ENST00000541311.1	-	2	399	c.165G>A	c.(163-165)atG>atA	p.M55I	GIF_ENST00000257248.2_Missense_Mutation_p.M80I			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	80					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TGTCGCTGGACATGAGCTGGT	0.542													5	22	---	---	---	---	0	0
KDM2A	22992	broad.mit.edu	37	11	66985327	66985327	+	Silent	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr11:66985327G>A	ENST00000529006.2	+	9	1259	c.813G>A	c.(811-813)aaG>aaA	p.K271K	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.K271K	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	271	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TTGAGCTCAAGCAGGGCTATA	0.458													5	50	---	---	---	---	0	0
PKNOX2	63876	broad.mit.edu	37	11	125255503	125255503	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr11:125255503A>T	ENST00000298282.9	+	6	555	c.284A>T	c.(283-285)cAg>cTg	p.Q95L	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.Q31L	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	95						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAGGCCACCCAGGGCTCTGAG	0.557													22	51	---	---	---	---	0	0
SUOX	6821	broad.mit.edu	37	12	56397664	56397664	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr12:56397664A>T	ENST00000394109.3	+	3	1215	c.491A>T	c.(490-492)gAc>gTc	p.D164V	SUOX_ENST00000394115.2_Missense_Mutation_p.D164V|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000266971.3_Missense_Mutation_p.D164V|SUOX_ENST00000548274.1_Missense_Mutation_p.D164V|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.D164V			P51687	SUOX_HUMAN	sulfite oxidase	164						mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AATCCTGAAGACAAGGTAGCC	0.562													7	59	---	---	---	---	0	0
MYH6	4624	broad.mit.edu	37	14	23851721	23851721	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr14:23851721C>G	ENST00000405093.3	-	38	5782	c.5712G>C	c.(5710-5712)gaG>gaC	p.E1904D	MYH6_ENST00000356287.3_Missense_Mutation_p.E1904D	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1904					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTCATCCAGCTCATGCTGCA	0.607													28	63	---	---	---	---	0	0
ADAM20	8748	broad.mit.edu	37	14	70989610	70989610	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr14:70989610C>T	ENST00000256389.3	-	2	2259	c.2015G>A	c.(2014-2016)cGt>cAt	p.R672H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	622					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACACTTCTTACGGATGCAGAT	0.468													73	150	---	---	---	---	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74537998	74537998	+	Silent	SNP	T	T	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr14:74537998T>C	ENST00000553458.1	-	6	728	c.630A>G	c.(628-630)ccA>ccG	p.P210P	CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Silent_p.P197P	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	210						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	CTCGCTCAGATGGTTTCATTA	0.483													22	36	---	---	---	---	0	0
E4F1	1877	broad.mit.edu	37	16	2284613	2284613	+	Silent	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr16:2284613C>T	ENST00000301727.4	+	11	1671	c.1623C>T	c.(1621-1623)caC>caT	p.H541H	E4F1_ENST00000564139.1_Silent_p.H541H|E4F1_ENST00000565090.1_Intron	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	541	Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TCAGGACACACCTGGAGGAGA	0.632													3	8	---	---	---	---	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854800	21854800	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr16:21854800G>C	ENST00000415645.2	-	4	491	c.452C>G	c.(451-453)aCa>aGa	p.T151R	NPIPB4_ENST00000357370.5_Missense_Mutation_p.T151R|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000451409.1_5'UTR					nuclear pore complex interacting protein family, member B4																		TCTAACTTTTGTTTCCACATG	0.388													47	202	---	---	---	---	0	0
ITGAD	3681	broad.mit.edu	37	16	31409184	31409184	+	Silent	SNP	G	G	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr16:31409184G>T	ENST00000389202.2	+	5	430	c.381G>T	c.(379-381)ctG>ctT	p.L127L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	127					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCTCCTGCTGGGCTCGCGCT	0.642													5	17	---	---	---	---	0	0
COG1	9382	broad.mit.edu	37	17	71189377	71189377	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr17:71189377C>T	ENST00000299886.4	+	1	249	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	57					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CGAACGGTACCGCGACCTGAT	0.697													3	14	---	---	---	---	0	0
ACSS1	84532	broad.mit.edu	37	20	24993264	24993264	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr20:24993264C>T	ENST00000537502.1	-	10	3026	c.1495G>A	c.(1495-1497)Ggc>Agc	p.G499S	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000542618.1_Missense_Mutation_p.G461S|ACSS1_ENST00000323482.4_Missense_Mutation_p.G582S			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	582					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGGGGGTAGCCAATGACAGCA	0.567													29	61	---	---	---	---	0	0
BRD1	23774	broad.mit.edu	37	22	50217771	50217771	+	Silent	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr22:50217771G>A	ENST00000216267.8	-	1	681	c.195C>T	c.(193-195)ctC>ctT	p.L65L	BRD1_ENST00000404760.1_Silent_p.L65L|BRD1_ENST00000404034.1_Silent_p.L65L|BRD1_ENST00000457780.2_Silent_p.L65L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	65					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTGAGCAGTGAGGTCATCTT	0.458													35	48	---	---	---	---	0	0
DRP2	1821	broad.mit.edu	37	X	100511155	100511155	+	Silent	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chrX:100511155G>A	ENST00000395209.3	+	21	2822	c.2295G>A	c.(2293-2295)cgG>cgA	p.R765R	DRP2_ENST00000538510.1_Silent_p.R765R|DRP2_ENST00000402866.1_Silent_p.R765R|DRP2_ENST00000541709.1_Silent_p.R687R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	765					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	p.R762R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCACAGACCGGGAGCCAGCCT	0.577													40	21	---	---	---	---	0	0
DOCK11	139818	broad.mit.edu	37	X	117742298	117742298	+	Silent	SNP	A	A	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chrX:117742298A>G	ENST00000276204.6	+	26	2930	c.2856A>G	c.(2854-2856)ttA>ttG	p.L952L	DOCK11_ENST00000276202.7_Silent_p.L952L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	952					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAGATTTTTTATCAATAAACA	0.418													27	99	---	---	---	---	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907854	12907854	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:12907854C>T	ENST00000317869.6	-	2	514	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GATCGTTTCACACCTGCGTTT	0.498													13	127	---	---	---	---	0	0
SDHC	6391	broad.mit.edu	37	1	161326632	161326632	+	Splice_Site	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:161326632T>C	ENST00000367975.2	+	5	554		c.e5+2		SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Splice_Site|SDHC_ENST00000392169.2_Splice_Site|SDHC_ENST00000470743.3_Splice_Site|SDHC_ENST00000342751.4_Intron	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa						respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	CGACACTTGGTAAGTTAATTC	0.458			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				26	77	---	---	---	---	0	0
PTPRC	5788	broad.mit.edu	37	1	198711451	198711451	+	Silent	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:198711451T>C	ENST00000367376.2	+	25	2817	c.2646T>C	c.(2644-2646)taT>taC	p.Y882Y	PTPRC_ENST00000352140.3_Silent_p.Y834Y|PTPRC_ENST00000442510.2_Silent_p.Y884Y|PTPRC_ENST00000594404.1_Silent_p.Y721Y|PTPRC_ENST00000348564.6_Silent_p.Y723Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	882	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTATGGTTATGTTGTCAAGC	0.438													17	91	---	---	---	---	0	0
USH2A	7399	broad.mit.edu	37	1	216256915	216256915	+	Silent	SNP	A	A	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:216256915A>T	ENST00000366943.2	-	26	5567	c.5181T>A	c.(5179-5181)ctT>ctA	p.L1727L	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Silent_p.L1727L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1727	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATATGGATGAAGTTCCAGGA	0.338										HNSCC(13;0.011)			22	113	---	---	---	---	0	0
ACTA1	58	broad.mit.edu	37	1	229568583	229568583	+	Silent	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:229568583G>A	ENST00000366684.3	-	3	276	c.174C>T	c.(172-174)gaC>gaT	p.D58D	ACTA1_ENST00000366683.2_Silent_p.D58D	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	58					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TCTGAGCCTCGTCGCCCACGT	0.592													11	65	---	---	---	---	0	0
MFSD2B	388931	broad.mit.edu	37	2	24239744	24239744	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr2:24239744T>C	ENST00000338315.4	+	4	377	c.377T>C	c.(376-378)cTg>cCg	p.L126P	MFSD2B_ENST00000406420.3_Missense_Mutation_p.L126P			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	126					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TTCATCGCCCTGGCCTACTTC	0.662													11	27	---	---	---	---	0	0
DPP10	57628	broad.mit.edu	37	2	116534830	116534830	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr2:116534830G>T	ENST00000410059.1	+	14	1748	c.1268G>T	c.(1267-1269)tGg>tTg	p.W423L	DPP10_ENST00000310323.8_Missense_Mutation_p.W416L|DPP10_ENST00000409163.1_Missense_Mutation_p.W373L|DPP10_ENST00000393147.2_Missense_Mutation_p.W427L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	423					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCAGGAAACTGGGAAGTGATA	0.383													4	24	---	---	---	---	0	0
EOMES	8320	broad.mit.edu	37	3	27760935	27760935	+	Silent	SNP	A	A	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:27760935A>T	ENST00000295743.4	-	3	1277	c.1074T>A	c.(1072-1074)acT>acA	p.T358T	EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.T358T|EOMES_ENST00000537516.1_Silent_p.T63T			O95936	EOMES_HUMAN	eomesodermin	358					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGTGGGAACCAGTATTAGGAG	0.403													22	75	---	---	---	---	0	0
TRANK1	9881	broad.mit.edu	37	3	36872850	36872850	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:36872850T>A	ENST00000429976.2	-	21	8339	c.8092A>T	c.(8092-8094)Acc>Tcc	p.T2698S	TRANK1_ENST00000428977.2_Missense_Mutation_p.T2148S|TRANK1_ENST00000301807.6_Missense_Mutation_p.T2148S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2698					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCATCTGGGTGCCCACTCTT	0.572													5	18	---	---	---	---	0	0
ITIH4	3700	broad.mit.edu	37	3	52858573	52858573	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:52858573T>G	ENST00000266041.4	-	8	981	c.885A>C	c.(883-885)gaA>gaC	p.E295D	ITIH4_ENST00000485816.1_Missense_Mutation_p.E295D|ITIH4_ENST00000346281.5_Missense_Mutation_p.E295D|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Missense_Mutation_p.E207D|ITIH4_ENST00000406595.1_Missense_Mutation_p.E295D	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	295	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGATTAGGGCTTCCCGGGTCT	0.577													8	27	---	---	---	---	0	0
EPHB1	2047	broad.mit.edu	37	3	134920475	134920475	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:134920475G>T	ENST00000398015.3	+	12	2660	c.2290G>T	c.(2290-2292)Ggc>Tgc	p.G764C	EPHB1_ENST00000493838.1_Missense_Mutation_p.G325C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	764	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTCCGACTTTGGCCTCTCCCG	0.522													15	45	---	---	---	---	0	0
ATP13A5	344905	broad.mit.edu	37	3	193082032	193082032	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:193082032G>A	ENST00000342358.4	-	2	218	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	34					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAGGCAGAAGGCTTTCCGTAC	0.483													35	61	---	---	---	---	0	0
ATP10D	57205	broad.mit.edu	37	4	47538814	47538814	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr4:47538814C>A	ENST00000273859.3	+	9	1524	c.1255C>A	c.(1255-1257)Cag>Aag	p.Q419K	ATP10D_ENST00000504445.1_Missense_Mutation_p.Q404K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	419					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCTATTGTTCAGTGCCGAGC	0.393													8	33	---	---	---	---	0	0
USP53	54532	broad.mit.edu	37	4	120214179	120214179	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr4:120214179G>T	ENST00000450251.1	+	15	3579	c.3035G>T	c.(3034-3036)gGt>gTt	p.G1012V	USP53_ENST00000274030.6_Missense_Mutation_p.G1012V			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	1012					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCAAACTCAGGTGCCATTGAT	0.393													33	74	---	---	---	---	0	0
NIM1	0	broad.mit.edu	37	5	43280301	43280301	+	Silent	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:43280301T>C	ENST00000512796.1	+	4	2280	c.781T>C	c.(781-783)Ttg>Ctg	p.L261L	NIM1_ENST00000326035.2_Silent_p.L261L			Q8IY84	NIM1_HUMAN		261	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										GGGGGTGCTTTTGTACTTCAT	0.547													3	49	---	---	---	---	0	0
MSH3	4437	broad.mit.edu	37	5	79965959	79965959	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:79965959C>T	ENST00000265081.6	+	4	703	c.623C>T	c.(622-624)aCa>aTa	p.T208I		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	208	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCATCAAATACAAGTCATGAA	0.338								Mismatch excision repair (MMR)					3	38	---	---	---	---	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786541	121786541	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:121786541C>A	ENST00000261367.7	+	12	3568	c.2140C>A	c.(2140-2142)Ctg>Atg	p.L714M	SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L667M|SNCAIP_ENST00000542191.1_Missense_Mutation_p.L225M|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.L269M|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L607M|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L714M|SNCAIP_ENST00000379538.3_Missense_Mutation_p.L301M			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	667					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTTAGCCAGGCTGAGACAGCT	0.512													9	20	---	---	---	---	0	0
PCDHGB6	0	broad.mit.edu	37	5	140788913	140788913	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:140788913G>A	ENST00000520790.1	+	1	1144	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I	PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGGAGAAGTCAGGTGTAA	0.433													10	19	---	---	---	---	0	0
ADAM19	8728	broad.mit.edu	37	5	156915452	156915452	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:156915452G>A	ENST00000257527.4	-	21	2449	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	ADAM19_ENST00000430702.2_Missense_Mutation_p.P524S|ADAM19_ENST00000517905.1_Missense_Mutation_p.P791S|ADAM19_ENST00000394020.1_Missense_Mutation_p.P793S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	791					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGGCCGGGGAGGAGGCTGG	0.617													14	38	---	---	---	---	0	0
BTNL3	10917	broad.mit.edu	37	5	180432567	180432567	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:180432567A>G	ENST00000342868.6	+	8	1280	c.1096A>G	c.(1096-1098)Aag>Gag	p.K366E		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	366	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGACAGGGGGAAGAACAATGT	0.478													3	57	---	---	---	---	0	0
LRRC16A	55604	broad.mit.edu	37	6	25551235	25551235	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:25551235A>G	ENST00000329474.6	+	27	2794	c.2426A>G	c.(2425-2427)gAa>gGa	p.E809G		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	809					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCAGCACCGAAAAGATTTCT	0.388													15	84	---	---	---	---	0	0
DDX39B	7919	broad.mit.edu	37	6	31499163	31499163	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:31499163G>C	ENST00000417556.2	-	9	1562	c.932C>G	c.(931-933)tCt>tGt	p.S311C	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000458640.1_Missense_Mutation_p.S296C|DDX39B_ENST00000396172.1_Missense_Mutation_p.S296C|DDX39B_ENST00000415382.2_Missense_Mutation_p.S218C|DDX39B_ENST00000376177.2_Missense_Mutation_p.S296C			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	296	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CCGCTGCACAGACTTCACAAA	0.587													6	25	---	---	---	---	0	0
B3GALT4	8705	broad.mit.edu	37	6	33245707	33245707	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:33245707G>A	ENST00000451237.1	+	1	791	c.511G>A	c.(511-513)Gtc>Atc	p.V171I		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	171					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGCCCGATACGTCCTCAAGAC	0.587													4	68	---	---	---	---	0	0
PEX6	5190	broad.mit.edu	37	6	42936629	42936629	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:42936629C>T	ENST00000304611.8	-	6	1531	c.1462G>A	c.(1462-1464)Ggg>Agg	p.G488R	PEX6_ENST00000244546.4_Missense_Mutation_p.G488R	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	488					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AAGTGGAGCCCAAGGTGACTA	0.597													10	55	---	---	---	---	0	0
COL21A1	0	broad.mit.edu	37	6	56035506	56035506	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:56035506T>A	ENST00000244728.5	-	5	1364	c.967A>T	c.(967-969)Aca>Tca	p.T323S	COL21A1_ENST00000535941.1_Missense_Mutation_p.T323S|COL21A1_ENST00000370819.1_Missense_Mutation_p.T323S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	323	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGGTTGTTGTAAATAATAAG	0.343													3	13	---	---	---	---	0	0
NOD1	10392	broad.mit.edu	37	7	30491972	30491972	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:30491972G>A	ENST00000222823.4	-	6	1586	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	354	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGTGGCTGGGGGAGAAGCC	0.677													8	27	---	---	---	---	0	0
POU6F2	11281	broad.mit.edu	37	7	39500237	39500237	+	Silent	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:39500237T>A	ENST00000518318.2	+	9	1536	c.1494T>A	c.(1492-1494)ctT>ctA	p.L498L	POU6F2_ENST00000559001.1_Silent_p.L443L|POU6F2_ENST00000403058.1_Silent_p.L498L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	498	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCCTGTCCCTTGGCCTGACCC	0.592													4	6	---	---	---	---	0	0
TAF6	6878	broad.mit.edu	37	7	99704994	99704994	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:99704994G>T	ENST00000344095.4	-	15	2434	c.1909C>A	c.(1909-1911)Cca>Aca	p.P637T	TAF6_ENST00000437822.2_Missense_Mutation_p.P674T|TAF6_ENST00000453269.2_Missense_Mutation_p.P637T|TAF6_ENST00000452041.1_Missense_Mutation_p.P637T|TAF6_ENST00000418432.2_Missense_Mutation_p.P561T|TAF6_ENST00000472509.1_Missense_Mutation_p.P694T|AP4M1_ENST00000421755.1_Intron	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	637					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGCTGAGTGGGGACGGGGAC	0.647													24	50	---	---	---	---	0	0
LMOD2	442721	broad.mit.edu	37	7	123296111	123296111	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:123296111G>C	ENST00000458573.2	+	1	251	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	LMOD2_ENST00000456238.2_Missense_Mutation_p.E32Q	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	32	Glu-rich.|Tropomyosin-binding (By similarity).					cytoskeleton	actin binding|tropomyosin binding										GGAGCTGAAGGAGCTAGAGAG	0.537													9	6	---	---	---	---	0	0
CDK5	1020	broad.mit.edu	37	7	150754243	150754243	+	Silent	SNP	G	G	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:150754243G>C	ENST00000485972.1	-	2	723	c.42C>G	c.(40-42)acC>acG	p.T14T	CDK5_ENST00000297518.4_Silent_p.T14T	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	14	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CAGTTCCGTAGGTGCCTAGGG	0.567													33	69	---	---	---	---	0	0
FREM1	158326	broad.mit.edu	37	9	14846021	14846021	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr9:14846021C>T	ENST00000380881.4	-	9	2148	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	FREM1_ENST00000422223.2_Missense_Mutation_p.D444N|FREM1_ENST00000380880.3_Missense_Mutation_p.D444N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	444					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.D445N(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCACCAATGTCGTCATTGTCG	0.493													8	10	---	---	---	---	0	0
NTNG2	84628	broad.mit.edu	37	9	135073943	135073943	+	Silent	SNP	G	G	T	rs138616053	by1000genomes	TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr9:135073943G>T	ENST00000393229.3	+	3	1580	c.804G>T	c.(802-804)cgG>cgT	p.R268R	NTNG2_ENST00000393228.4_Silent_p.R268R|NTNG2_ENST00000360670.3_Silent_p.R268R|NTNG2_ENST00000372179.3_Silent_p.R268R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	268	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ATGTGCAGCGGGAGAACCTCT	0.637													15	27	---	---	---	---	0	0
ANKRD26	22852	broad.mit.edu	37	10	27323868	27323868	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr10:27323868A>C	ENST00000376087.4	-	24	3676	c.3511T>G	c.(3511-3513)Ttt>Gtt	p.F1171V	ANKRD26_ENST00000376070.3_Missense_Mutation_p.F728V|ANKRD26_ENST00000436985.2_Missense_Mutation_p.F1187V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1170						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATAGCATGAAACTGGTCTTGG	0.363													38	87	---	---	---	---	0	0
PI4K2A	55361	broad.mit.edu	37	10	99426205	99426205	+	Nonsense_Mutation	SNP	C	C	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr10:99426205C>G	ENST00000370631.3	+	7	1152	c.1095C>G	c.(1093-1095)taC>taG	p.Y365*	PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.Y335*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.Y335*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	365	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		ATCCTTTTTACTGGGCCTGGT	0.473													16	36	---	---	---	---	0	0
OR5D13	390142	broad.mit.edu	37	11	55541529	55541529	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:55541529A>G	ENST00000361760.1	+	1	616	c.616A>G	c.(616-618)Ata>Gta	p.I206V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TATTATTGCCATATTCAATGA	0.388													24	66	---	---	---	---	0	0
PPP6R3	55291	broad.mit.edu	37	11	68359047	68359047	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:68359047A>G	ENST00000393799.2	+	18	2056	c.1789A>G	c.(1789-1791)Aat>Gat	p.N597D	PPP6R3_ENST00000393800.2_Missense_Mutation_p.N597D|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N365D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N568D|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N517D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N551D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.N597D|PPP6R3_ENST00000529710.1_Missense_Mutation_p.N517D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N591D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.N562D			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	597					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TATTTAGGGAAATATTGCCTT	0.323													4	30	---	---	---	---	0	0
CCDC81	60494	broad.mit.edu	37	11	86131085	86131085	+	Missense_Mutation	SNP	G	G	A	rs144706705		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:86131085G>A	ENST00000278487.3	+	13	2091	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	CCDC81_ENST00000445632.2_Missense_Mutation_p.A603T|CCDC81_ENST00000528728.1_Missense_Mutation_p.A338T|CCDC81_ENST00000354755.1_Missense_Mutation_p.A513T			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	603										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GGAGGACAAGGCTTTTGAACG	0.507													12	29	---	---	---	---	0	0
SRRM4	84530	broad.mit.edu	37	12	119583327	119583327	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr12:119583327C>T	ENST00000267260.4	+	9	1301	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	305	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGCCAGGTCTCGGGGCCAGGA	0.632													5	15	---	---	---	---	0	0
TEX29	121793	broad.mit.edu	37	13	111973280	111973280	+	Silent	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr13:111973280C>T	ENST00000283547.1	+	2	172	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	15						integral to membrane											GCGGCACCTCCTGAAGCAATT	0.627													10	71	---	---	---	---	0	0
C14orf105	55195	broad.mit.edu	37	14	57960372	57960372	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:57960372T>C	ENST00000216445.3	-	1	198	c.62A>G	c.(61-63)aAa>aGa	p.K21R	C14orf105_ENST00000526336.1_Missense_Mutation_p.K21R|C14orf105_ENST00000422976.2_Missense_Mutation_p.K21R|C14orf105_ENST00000534126.1_Missense_Mutation_p.K21R	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	21										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CTCTACCTCTTTGTTTTGCAA	0.463													5	22	---	---	---	---	0	0
PPM1A	5494	broad.mit.edu	37	14	60749576	60749576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:60749576C>A	ENST00000395076.4	+	2	585	c.155C>A	c.(154-156)tCg>tAg	p.S52*	PPM1A_ENST00000529574.1_Nonsense_Mutation_p.S52*|PPM1A_ENST00000325642.3_Nonsense_Mutation_p.S125*|PPM1A_ENST00000325658.3_Nonsense_Mutation_p.S52*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	52					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GGACTTGAATCGTGGTCATTC	0.473													13	244	---	---	---	---	0	0
SMOC1	64093	broad.mit.edu	37	14	70480116	70480116	+	Silent	SNP	G	G	A	rs147765593		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:70480116G>A	ENST00000381280.4	+	10	1207	c.954G>A	c.(952-954)ggG>ggA	p.G318G	SMOC1_ENST00000361956.3_Silent_p.G318G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	318					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GTCCAGAAGGGAAGAAAATGG	0.443											OREG0022771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	25	---	---	---	---	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104251154	104251154	+	Silent	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:104251154G>A	ENST00000202556.9	-	3	537	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	85					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCTCAGTTGGGGAGTCCTCGT	0.368													4	40	---	---	---	---	0	0
IGHA1	0	broad.mit.edu	37	14	106174901	106174901	+	RNA	SNP	C	C	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:106174901C>G	ENST00000390547.2	-	0	101																											TGAGTGGCTCCTGGGGGAAGA	0.652													11	26	---	---	---	---	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675138	40675138	+	Silent	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:40675138T>C	ENST00000416151.2	+	1	217	c.102T>C	c.(100-102)ttT>ttC	p.F34F	KNSTRN_ENST00000249776.8_Silent_p.F34F|KNSTRN_ENST00000448395.2_Silent_p.F34F	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		ACCGGAAGTTTCTATTTGAAA	0.597													13	46	---	---	---	---	0	0
ISLR	3671	broad.mit.edu	37	15	74467974	74467974	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:74467974G>A	ENST00000249842.3	+	2	1132	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.V259M	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	259	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCACTGTGATGTGGACGGGCA	0.642													13	45	---	---	---	---	0	0
LINGO1	84894	broad.mit.edu	37	15	77907021	77907021	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:77907021A>T	ENST00000355300.6	-	2	1402	c.1228T>A	c.(1228-1230)Ttc>Atc	p.F410I	LINGO1_ENST00000561030.1_Missense_Mutation_p.F404I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	410	LRRCT.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACATCAGGGAAGTCCTTGAAC	0.662													5	10	---	---	---	---	0	0
PDE8A	5151	broad.mit.edu	37	15	85626866	85626866	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:85626866T>A	ENST00000310298.4	+	7	878	c.626T>A	c.(625-627)cTg>cAg	p.L209Q	PDE8A_ENST00000339708.5_Missense_Mutation_p.L209Q|PDE8A_ENST00000557957.1_Missense_Mutation_p.L137Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Missense_Mutation_p.L209Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	209					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CGATCACAACTGAAACTCAGG	0.468													5	23	---	---	---	---	0	0
MMP25	64386	broad.mit.edu	37	16	3100525	3100525	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:3100525G>T	ENST00000336577.4	+	4	876	c.639G>T	c.(637-639)gaG>gaT	p.E213D	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	213					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						ACGATGAGGAGACCTGGACTT	0.512													11	30	---	---	---	---	0	0
PARN	5073	broad.mit.edu	37	16	14540829	14540829	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:14540829T>A	ENST00000437198.2	-	23	1921	c.1780A>T	c.(1780-1782)Acc>Tcc	p.T594S	PARN_ENST00000420015.2_Missense_Mutation_p.T548S|PARN_ENST00000341484.7_Missense_Mutation_p.T533S|PARN_ENST00000539279.1_Missense_Mutation_p.T419S	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	594					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CAGGAATCGGTCTGCTCAAGC	0.488													15	42	---	---	---	---	0	0
GPR97	222487	broad.mit.edu	37	16	57718006	57718006	+	Silent	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:57718006C>T	ENST00000333493.4	+	9	1205	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	GPR97_ENST00000327655.6_Silent_p.F138F|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.F228F	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	348					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCACTACTTCCTGCTCTGTG	0.587													14	40	---	---	---	---	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77396062	77396062	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:77396062C>A	ENST00000282849.5	-	7	1574	c.1156G>T	c.(1156-1158)Gcc>Tcc	p.A386S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	386	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTAAGATGGCATGATCATGT	0.418													3	29	---	---	---	---	0	0
CA5A	763	broad.mit.edu	37	16	87960438	87960438	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:87960438A>G	ENST00000309893.2	-	2	321	c.256T>C	c.(256-258)Tcc>Ccc	p.S86P	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	86					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		GCTTCATAGGAGACCCTGAGT	0.602													11	17	---	---	---	---	0	0
NDEL1	81565	broad.mit.edu	37	17	8350176	8350176	+	Silent	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:8350176G>T	ENST00000334527.7	+	4	542	c.345G>T	c.(343-345)gtG>gtT	p.V115V	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Silent_p.V115V|NDEL1_ENST00000402554.3_Silent_p.V115V|NDEL1_ENST00000299734.7_Silent_p.V115V	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	115	Interaction with KATNB1 (By similarity).|Required for interaction with PAFAH1B1.|Self-association (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						ATAAGTATGTGAGAGAGCTGG	0.433													9	26	---	---	---	---	0	0
AOC3	8639	broad.mit.edu	37	17	41004623	41004623	+	Silent	SNP	C	C	G	rs141617446		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:41004623C>G	ENST00000308423.2	+	1	1423	c.1263C>G	c.(1261-1263)gcC>gcG	p.A421A		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	421					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTCCCAGGCCCCCAAGACAA	0.592													7	32	---	---	---	---	0	0
PDK2	5164	broad.mit.edu	37	17	48182745	48182745	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:48182745A>C	ENST00000503176.1	+	3	432	c.271A>C	c.(271-273)Agc>Cgc	p.S91R	PDK2_ENST00000007708.3_Missense_Mutation_p.S27R	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	91					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.S91C(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GTATGTCCAGAGCCTCCTGGA	0.622									Autosomal Dominant Polycystic Kidney Disease				7	17	---	---	---	---	0	0
MRC2	9902	broad.mit.edu	37	17	60765674	60765674	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:60765674C>T	ENST00000303375.5	+	21	3373	c.2971C>T	c.(2971-2973)Ccc>Tcc	p.P991S	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	991	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGGCCAGGAACCCCAGAGCCG	0.607													8	23	---	---	---	---	0	0
EXOSC5	56915	broad.mit.edu	37	19	41897754	41897754	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr19:41897754C>T	ENST00000221233.4	-	3	526	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	EXOSC5_ENST00000596905.1_Missense_Mutation_p.A88T|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	126					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACAGAGCCGGCATCGCTGACA	0.622													14	29	---	---	---	---	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958791	51958791	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr19:51958791C>T	ENST00000321424.3	-	4	998	c.932G>A	c.(931-933)gGg>gAg	p.G311E	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G202E|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G218E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	311	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCCAGCAGCCCAGGGTTTGA	0.642													11	28	---	---	---	---	0	0
MYLK2	85366	broad.mit.edu	37	20	30418922	30418922	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:30418922A>G	ENST00000375994.2	+	9	1675	c.1402A>G	c.(1402-1404)Atg>Gtg	p.M468V	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.M468V			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	468	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATGTGGAGTATGGGGGTGAT	0.572													23	42	---	---	---	---	0	0
FAM83C	128876	broad.mit.edu	37	20	33875275	33875275	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:33875275G>T	ENST00000374408.3	-	4	1403	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	436										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAAGGTTAAGGGGCTGGTACT	0.632													8	20	---	---	---	---	0	0
RPRD1B	58490	broad.mit.edu	37	20	36686047	36686047	+	Splice_Site	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:36686047G>T	ENST00000373433.4	+	4	930		c.e4+1			NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B											endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						ACCCCTCTTGGTAGGTCTTGA	0.517											OREG0025919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	12	---	---	---	---	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38494424	38494424	+	Silent	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr22:38494424G>A	ENST00000381669.3	-	5	486	c.342C>T	c.(340-342)ttC>ttT	p.F114F	BAIAP2L2_ENST00000332536.5_Silent_p.F114F	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	114	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					TCACTTTGATGAACTGCATGT	0.597											OREG0026556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	39	---	---	---	---	0	0
DACH2	117154	broad.mit.edu	37	X	85769329	85769329	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chrX:85769329A>G	ENST00000373131.1	+	2	699	c.536A>G	c.(535-537)gAa>gGa	p.E179G	DACH2_ENST00000508860.1_Missense_Mutation_p.E25G|DACH2_ENST00000373125.4_Missense_Mutation_p.E192G|DACH2_ENST00000510272.1_5'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GTGTTGCAGGAAAATGCCCGC	0.458													6	2	---	---	---	---	0	0
MACF1	23499	broad.mit.edu	37	1	39908220	39908220	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:39908220T>C	ENST00000564288.1	+	77	19862	c.19085T>C	c.(19084-19086)gTt>gCt	p.V6362A	MACF1_ENST00000372915.3_Missense_Mutation_p.V6261A|MACF1_ENST00000539005.1_Missense_Mutation_p.V4173A|MACF1_ENST00000545844.1_Missense_Mutation_p.V4303A|MACF1_ENST00000361689.2_Missense_Mutation_p.V4303A|MACF1_ENST00000567887.1_Missense_Mutation_p.V6399A|MACF1_ENST00000289893.4_Missense_Mutation_p.V4805A|MACF1_ENST00000317713.7_Missense_Mutation_p.V4303A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6370					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCATTGAAGTTGAGCTCGCA	0.423													7	68	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152280616	152280616	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:152280616C>G	ENST00000368799.1	-	3	6781	c.6746G>C	c.(6745-6747)aGt>aCt	p.S2249T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2249	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCCTCACTGTCACTGTC	0.592									Ichthyosis				6	325	---	---	---	---	0	0
LHX9	56956	broad.mit.edu	37	1	197887072	197887072	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr1:197887072G>T	ENST00000367390.3	+	2	119	c.92G>T	c.(91-93)aGa>aTa	p.R31I	LHX9_ENST00000367391.1_Missense_Mutation_p.R31I|LHX9_ENST00000561173.1_Missense_Mutation_p.R46I|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367387.4_Missense_Mutation_p.R40I|LHX9_ENST00000337020.2_Missense_Mutation_p.R40I	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	40					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ATGGAGCGCAGATCCAAGACT	0.667													8	94	---	---	---	---	0	0
TPO	7173	broad.mit.edu	37	2	1480927	1480927	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:1480927G>A	ENST00000345913.4	+	8	980	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.G297S|TPO_ENST00000329066.4_Missense_Mutation_p.G297S|TPO_ENST00000382201.3_Missense_Mutation_p.G297S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.G297S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	297					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCCTGCGGCACCGGGGA	0.692													3	8	---	---	---	---	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373													6	295	---	---	---	---	0	0
DDR1	780	broad.mit.edu	37	6	30859877	30859877	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr6:30859877A>G	ENST00000324771.8	+	9	1312	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000454612.2_Missense_Mutation_p.Y255C|DDR1_ENST00000513240.1_Missense_Mutation_p.Y255C|DDR1_ENST00000452441.1_Missense_Mutation_p.Y255C|DDR1_ENST00000376567.2_Missense_Mutation_p.Y255C|DDR1_ENST00000418800.2_Missense_Mutation_p.Y255C|DDR1_ENST00000446312.1_Missense_Mutation_p.M222V|DDR1_ENST00000376575.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376568.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376569.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376570.4_Missense_Mutation_p.Y255C|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.Y273C			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	255					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGCTATGACTATGTGGGATGG	0.577													8	129	---	---	---	---	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555467	125555467	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr8:125555467A>G	ENST00000522532.1	+	2	288	c.241A>G	c.(241-243)Atc>Gtc	p.I81V	NDUFB9_ENST00000517367.1_Missense_Mutation_p.I70V|NDUFB9_ENST00000276689.3_Missense_Mutation_p.I81V|NDUFB9_ENST00000518008.1_Missense_Mutation_p.I81V			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	81					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	ACAGCCATACATCTTCCCTGA	0.473													5	60	---	---	---	---	0	0
DENND1A	57706	broad.mit.edu	37	9	126146148	126146148	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:126146148C>T	ENST00000373624.2	-	21	1823	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D	DENND1A_ENST00000394219.3_Missense_Mutation_p.G552D|DENND1A_ENST00000542603.1_Missense_Mutation_p.G326D|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	541						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGCCTCGTCGCCTTCCGCGCT	0.657													6	100	---	---	---	---	0	0
RALGDS	5900	broad.mit.edu	37	9	135979208	135979208	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr9:135979208C>T	ENST00000393160.3	-	11	1872	c.1519G>A	c.(1519-1521)Ggc>Agc	p.G507S	RALGDS_ENST00000372062.3_Missense_Mutation_p.G533S|RALGDS_ENST00000393157.3_Missense_Mutation_p.G561S|RALGDS_ENST00000372047.3_Missense_Mutation_p.G550S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.G633S|RALGDS_ENST00000372050.3_Missense_Mutation_p.G562S	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	562	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGAACGGTGCCCTGGATGATG	0.607			T	CIITA	"""PMBL, Hodgkin Lymphona, """						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	51	---	---	---	---	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798756	55798756	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr11:55798756A>G	ENST00000313555.1	+	1	862	c.862A>G	c.(862-864)Ata>Gta	p.I288V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTTTAATCCAATAATTTATAG	0.333													3	68	---	---	---	---	0	0
KSR2	283455	broad.mit.edu	37	12	118199016	118199016	+	Silent	SNP	C	C	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr12:118199016C>T	ENST00000425217.1	-	4	753	c.699G>A	c.(697-699)ccG>ccA	p.P233P	KSR2_ENST00000339824.5_Silent_p.P262P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	262	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGGTGCGCGGCGGGGTGC	0.751													6	229	---	---	---	---	0	0
MYH7	4625	broad.mit.edu	37	14	23885342	23885342	+	Silent	SNP	G	G	T			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr14:23885342G>T	ENST00000355349.3	-	34	4986	c.4824C>A	c.(4822-4824)cgC>cgA	p.R1608R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1608					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGCCTCGTTGCGGCTGCGTG	0.627													11	96	---	---	---	---	0	0
LRRK1	79705	broad.mit.edu	37	15	101595338	101595338	+	Silent	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr15:101595338G>A	ENST00000284395.5	+	28	4633	c.4233G>A	c.(4231-4233)agG>agA	p.R1411R	LRRK1_ENST00000388948.3_Silent_p.R1414R|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1414	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGATTTCGAGGCAGTCATTCC	0.537													24	43	---	---	---	---	0	0
MBTPS1	8720	broad.mit.edu	37	16	84121008	84121008	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr16:84121008A>C	ENST00000343411.3	-	9	1584	c.1089T>G	c.(1087-1089)ttT>ttG	p.F363L	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	363	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTATCTTCAAAGTCAATGC	0.383													15	84	---	---	---	---	0	0
C19orf44	84167	broad.mit.edu	37	19	16611793	16611793	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:16611793C>A	ENST00000221671.3	+	2	346	c.190C>A	c.(190-192)Ctg>Atg	p.L64M	C19orf44_ENST00000594035.1_Missense_Mutation_p.L64M|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	64										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACACTTACTCCTGAAAGAGAA	0.478													63	96	---	---	---	---	0	0
ZNF91	7644	broad.mit.edu	37	19	23544860	23544860	+	Silent	SNP	T	T	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr19:23544860T>A	ENST00000300619.7	-	4	1126	c.921A>T	c.(919-921)tcA>tcT	p.S307S	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.S275S	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	307						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGCAAGGGTTGAAGAATGGC	0.398													53	81	---	---	---	---	0	0
PFKL	5211	broad.mit.edu	37	21	45745845	45745845	+	Splice_Site	SNP	G	G	A			TCGA-J9-A8CN-01A-11D-A34U-08	TCGA-J9-A8CN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7211918-5718-4053-bdf8-ec5b69c3c95e	a6cf8216-0d6d-4835-b09e-04ee0ae4841c	g.chr21:45745845G>A	ENST00000403390.1	+	21	2132	c.2132G>A	c.(2131-2133)gGt>gAt	p.G711D	PFKL_ENST00000349048.4_Splice_Site_p.G664D			P17858	K6PL_HUMAN	phosphofructokinase, liver	664					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGTTTCCAGGGTGGCGCTCCA	0.657													7	8	---	---	---	---	0	0
PPOX	5498	broad.mit.edu	37	1	161140216	161140216	+	Silent	SNP	G	G	A			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr1:161140216G>A	ENST00000367999.4	+	10	1271	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Silent_p.V80V|PPOX_ENST00000352210.5_Silent_p.V335V|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	335					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GACATTTGGTGCCATCTTCAG	0.547													23	42	---	---	---	---	0	0
USH2A	7399	broad.mit.edu	37	1	216243582	216243582	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr1:216243582G>C	ENST00000366943.2	-	30	6296	c.5910C>G	c.(5908-5910)agC>agG	p.S1970R	USH2A_ENST00000307340.3_Missense_Mutation_p.S1970R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1970	Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCACCTCAATGCTGTATCCAT	0.478										HNSCC(13;0.011)			3	67	---	---	---	---	0	0
NBAS	51594	broad.mit.edu	37	2	15415631	15415631	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr2:15415631A>C	ENST00000281513.5	-	44	5726	c.5701T>G	c.(5701-5703)Ttt>Gtt	p.F1901V	NBAS_ENST00000441750.1_Missense_Mutation_p.F1781V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1901										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTTGGAGAAAATGTAACTGCA	0.403													14	45	---	---	---	---	0	0
DNAH7	56171	broad.mit.edu	37	2	196737041	196737041	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr2:196737041C>A	ENST00000312428.6	-	40	6666	c.6566G>T	c.(6565-6567)gGt>gTt	p.G2189V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2189	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAACAAACACCTTGAATGAC	0.383													9	109	---	---	---	---	0	0
FAM194A	131831	broad.mit.edu	37	3	150404109	150404109	+	Missense_Mutation	SNP	C	C	G	rs112279628		TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr3:150404109C>G	ENST00000295910.6	-	4	638	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	FAM194A_ENST00000491361.1_Missense_Mutation_p.E50Q	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	196										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCAGACATTCAGGTTCAGCT	0.388													19	78	---	---	---	---	0	0
CLOCK	9575	broad.mit.edu	37	4	56304467	56304467	+	Silent	SNP	T	T	G			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr4:56304467T>G	ENST00000309964.4	-	21	2593	c.2343A>C	c.(2341-2343)ccA>ccC	p.P781P	CLOCK_ENST00000513440.1_Silent_p.P781P|CLOCK_ENST00000381322.1_Silent_p.P781P	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	781					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ATTGTTGCGGTGGCTGGGTCA	0.468													25	44	---	---	---	---	0	0
DCHS2	54798	broad.mit.edu	37	4	155219735	155219735	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr4:155219735G>T	ENST00000357232.4	-	18	4365	c.4366C>A	c.(4366-4368)Cca>Aca	p.P1456T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCCTAGGTGGATCTCCCAGG	0.458													49	97	---	---	---	---	0	0
CDH10	1008	broad.mit.edu	37	5	24535310	24535310	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:24535310A>G	ENST00000264463.4	-	5	1232	c.725T>C	c.(724-726)aTg>aCg	p.M242T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	242	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGGCCGCCCATGTCTTTGGC	0.478										HNSCC(23;0.051)			23	58	---	---	---	---	0	0
NIPBL	25836	broad.mit.edu	37	5	36976330	36976330	+	Missense_Mutation	SNP	A	A	C	rs144853101		TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:36976330A>C	ENST00000282516.8	+	9	1820	c.1321A>C	c.(1321-1323)Act>Cct	p.T441P	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.T441P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	441	Gln-rich.				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACAACAGAACACTTCAGTTGC	0.413													27	59	---	---	---	---	0	0
C6	729	broad.mit.edu	37	5	41161838	41161838	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:41161838C>A	ENST00000263413.3	-	10	1679	c.1415G>T	c.(1414-1416)tGg>tTg	p.W472L	C6_ENST00000337836.5_Missense_Mutation_p.W472L|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	472	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGATTCTAACCACTCAGAAAA	0.428													5	111	---	---	---	---	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407577	55407577	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:55407577C>T	ENST00000341048.4	-	10	1149	c.998G>A	c.(997-999)aGc>aAc	p.S333N	ANKRD55_ENST00000504958.2_Missense_Mutation_p.S290N|ANKRD55_ENST00000434982.2_Missense_Mutation_p.S45N|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	332										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGGCCGACTGCTCTGGGAGGG	0.488													11	207	---	---	---	---	0	0
POU5F2	134187	broad.mit.edu	37	5	93077212	93077212	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr5:93077212C>T	ENST00000510627.4	-	1	131	c.58G>A	c.(58-60)Ggc>Agc	p.G20S	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCTCTGGGGCCGCCCCCACCA	0.687													14	9	---	---	---	---	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519322	113519322	+	Missense_Mutation	SNP	C	C	T	rs144397367		TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr7:113519322C>T	ENST00000284601.3	-	4	1893	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	609					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTCCTAAAGCGCTGCCTTCA	0.403													15	131	---	---	---	---	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940179	70940179	+	Silent	SNP	C	C	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr10:70940179C>T	ENST00000359655.4	+	1	192	c.132C>T	c.(130-132)gtC>gtT	p.V44V	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	44					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTTTCTGTCCTTGCCACCG	0.667													28	77	---	---	---	---	0	0
KCNK18	338567	broad.mit.edu	37	10	118969534	118969534	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr10:118969534C>A	ENST00000334549.1	+	3	879	c.879C>A	c.(877-879)taC>taA	p.Y293*		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	293						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTTTTGCCTACATTTCCTGTG	0.498													9	152	---	---	---	---	0	0
PDZD8	118987	broad.mit.edu	37	10	119078421	119078421	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr10:119078421T>C	ENST00000334464.5	-	3	1299	c.1060A>G	c.(1060-1062)Agt>Ggt	p.S354G		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	354					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCCAAACACTACTGCTTAAC	0.328													22	38	---	---	---	---	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069307	57069307	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr11:57069307G>A	ENST00000532437.1	-	8	5256	c.4945C>T	c.(4945-4947)Cct>Tct	p.P1649S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1649S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1649	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCAGGCCAGGAAAGAGGTTG	0.557													15	34	---	---	---	---	0	0
CHD4	1108	broad.mit.edu	37	12	6711128	6711128	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr12:6711128T>C	ENST00000309577.6	-	4	599	c.436A>G	c.(436-438)Aag>Gag	p.K146E	CHD4_ENST00000357008.2_Missense_Mutation_p.K146E|CHD4_ENST00000544484.1_Missense_Mutation_p.K143E|CHD4_ENST00000544040.1_Missense_Mutation_p.K139E			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	146					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCAGGCACCTTTGAATCATCA	0.433													9	31	---	---	---	---	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43821152	43821152	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr12:43821152G>T	ENST00000389420.3	-	27	4065	c.4066C>A	c.(4066-4068)Cca>Aca	p.P1356T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1356T|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P474T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1356	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAAGGCCCTGGACCACATTGC	0.448													12	41	---	---	---	---	0	0
PAN2	9924	broad.mit.edu	37	12	56720445	56720445	+	Silent	SNP	T	T	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr12:56720445T>C	ENST00000425394.2	-	7	1594	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	PAN2_ENST00000440411.3_Silent_p.T406T|PAN2_ENST00000257931.5_Silent_p.T406T|PAN2_ENST00000548043.1_Silent_p.T406T	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	406					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAGAGAGAAGTGTGTCAGTGG	0.587													11	25	---	---	---	---	0	0
IL22	50616	broad.mit.edu	37	12	68642636	68642636	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr12:68642636G>C	ENST00000538666.1	-	6	553	c.483C>G	c.(481-483)atC>atG	p.I161M	IL22_ENST00000328087.4_Missense_Mutation_p.I161M			Q9GZX6	IL22_HUMAN	interleukin 22	161					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		CAATTGCTTTGATCTCTCCAC	0.368													7	205	---	---	---	---	0	0
ZNF106	64397	broad.mit.edu	37	15	42720231	42720231	+	Silent	SNP	G	G	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr15:42720231G>T	ENST00000263805.4	-	12	5240	c.4914C>A	c.(4912-4914)gtC>gtA	p.V1638V	ZNF106_ENST00000565380.1_Silent_p.V866V|ZNF106_ENST00000565611.1_Silent_p.V823V	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		TGTTGAAGGTGACCACAGTGC	0.522													4	146	---	---	---	---	0	0
USP8	9101	broad.mit.edu	37	15	50782019	50782019	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr15:50782019A>G	ENST00000433963.1	+	14	2412	c.1912A>G	c.(1912-1914)Aga>Gga	p.R638G	USP8_ENST00000396444.3_Missense_Mutation_p.R638G|USP8_ENST00000425032.3_Missense_Mutation_p.R532G|USP8_ENST00000307179.4_Missense_Mutation_p.R638G			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	638					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACCTTTGACAAGAGCACGAAG	0.323													10	23	---	---	---	---	0	0
MED13	9969	broad.mit.edu	37	17	60061727	60061727	+	Splice_Site	SNP	T	T	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr17:60061727T>C	ENST00000397786.2	-	15	2769	c.2693A>G	c.(2692-2694)gAt>gGt	p.D898G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	898					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATAAGAAAAATCCTACAATAT	0.348													15	31	---	---	---	---	0	0
KIAA0195	9772	broad.mit.edu	37	17	73487841	73487841	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr17:73487841C>T	ENST00000314256.7	+	14	1850	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	KIAA0195_ENST00000579208.1_Missense_Mutation_p.R137C|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R496C	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	486					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAGCAGGAGCGTGGCGACTG	0.617													11	29	---	---	---	---	0	0
LPHN1	22859	broad.mit.edu	37	19	14268133	14268133	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr19:14268133T>C	ENST00000340736.6	-	15	2987	c.2690A>G	c.(2689-2691)aAg>aGg	p.K897R	LPHN1_ENST00000361434.3_Missense_Mutation_p.K892R|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	897					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCACAGGTTCTTGTGGATGGT	0.597													30	92	---	---	---	---	0	0
ITCH	83737	broad.mit.edu	37	20	33068460	33068460	+	Silent	SNP	T	T	A			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr20:33068460T>A	ENST00000374864.4	+	19	2088	c.1875T>A	c.(1873-1875)cgT>cgA	p.R625R	ITCH_ENST00000262650.6_Silent_p.R666R|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.R515R	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	666	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TCTATAAGCGTATCTTGAACA	0.338													48	119	---	---	---	---	0	0
THOC5	8563	broad.mit.edu	37	22	29924168	29924168	+	Splice_Site	SNP	T	T	C			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr22:29924168T>C	ENST00000490103.1	-	11	1089		c.e11-2		THOC5_ENST00000397871.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGCGCTTCTGGACAAAGGA	0.572													23	44	---	---	---	---	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720454	50720454	+	Silent	SNP	C	C	G			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr22:50720454C>G	ENST00000449103.1	-	20	3314	c.3174G>C	c.(3172-3174)ccG>ccC	p.P1058P	PLXNB2_ENST00000359337.4_Silent_p.P1058P			O15031	PLXB2_HUMAN	plexin B2	1058	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCACAGCCGGGGACAGGA	0.647													13	26	---	---	---	---	0	0
ZBTB40	9923	broad.mit.edu	37	1	22828886	22828886	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:22828886G>T	ENST00000404138.1	+	6	1630	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000375647.4_Missense_Mutation_p.E373D	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	373					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTATTATGGAGTCCCTGGAAA	0.473													6	122	---	---	---	---	0	0
ARID1A	8289	broad.mit.edu	37	1	27105656	27105656	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:27105656C>G	ENST00000324856.7	+	20	5638	c.5267C>G	c.(5266-5268)cCa>cGa	p.P1756R	ARID1A_ENST00000374152.2_Missense_Mutation_p.P1373R|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1539R|ARID1A_ENST00000540690.1_Missense_Mutation_p.P84R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1756					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGTCTAGTCCAGCTCCCATG	0.478			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	134	---	---	---	---	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302833	145302833	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:145302833G>T	ENST00000342960.5	+	8	1306	c.1271G>T	c.(1270-1272)aGa>aTa	p.R424I	NBPF10_ENST00000369339.3_Missense_Mutation_p.R153I|NBPF10_ENST00000369338.1_Missense_Mutation_p.R153I|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	424										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGGGTGTAGACTGGCACAG	0.572													5	249	---	---	---	---	0	0
EPRS	2058	broad.mit.edu	37	1	220213574	220213574	+	Silent	SNP	G	G	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:220213574G>A	ENST00000366923.3	-	2	353	c.84C>T	c.(82-84)gtC>gtT	p.V28V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	28					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CGGAAATGCTGACATCGTCTT	0.303													7	150	---	---	---	---	0	0
NCL	4691	broad.mit.edu	37	2	232320221	232320221	+	Silent	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr2:232320221A>G	ENST00000322723.4	-	13	2187	c.1947T>C	c.(1945-1947)ggT>ggC	p.G649G		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	649	Arg/Gly/Phe-rich.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGCCACCTTCACCCTTAGGTT	0.577													39	413	---	---	---	---	0	0
GPR171	29909	broad.mit.edu	37	3	150917004	150917004	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr3:150917004A>C	ENST00000309180.5	-	3	400	c.170T>G	c.(169-171)cTt>cGt	p.L57R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	57						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCGGCTGTAAGCAAATTAAT	0.403													4	124	---	---	---	---	0	0
MECOM	2122	broad.mit.edu	37	3	168807797	168807797	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr3:168807797G>T	ENST00000464456.1	-	13	4001	c.2801C>A	c.(2800-2802)tCc>tAc	p.S934Y	MECOM_ENST00000468789.1_Missense_Mutation_p.S943Y|MECOM_ENST00000460814.1_Missense_Mutation_p.S934Y|MECOM_ENST00000392736.3_Missense_Mutation_p.S943Y|MECOM_ENST00000494292.1_Missense_Mutation_p.S1122Y|MECOM_ENST00000472280.1_Missense_Mutation_p.S944Y|MECOM_ENST00000264674.3_Missense_Mutation_p.S1008Y|MECOM_ENST00000433243.2_Missense_Mutation_p.S944Y	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCTCACTGGGGATGTCTTGCA	0.428													5	122	---	---	---	---	0	0
SFRP2	6423	broad.mit.edu	37	4	154709577	154709577	+	Silent	SNP	G	G	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr4:154709577G>A	ENST00000274063.4	-	1	695	c.411C>T	c.(409-411)ccC>ccT	p.P137P		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	137	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CAAGCATGTCGGGCCAGGGGA	0.637													8	162	---	---	---	---	0	0
HSD17B4	3295	broad.mit.edu	37	5	118837734	118837734	+	Splice_Site	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr5:118837734A>G	ENST00000504811.1	+	15	1468		c.e15-1		HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000256216.6_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	ACCCTAACATAGGTTCTTCAT	0.368													9	143	---	---	---	---	0	0
FUCA2	2519	broad.mit.edu	37	6	143828561	143828561	+	Splice_Site	SNP	C	C	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr6:143828561C>T	ENST00000002165.6	-	2	280	c.225G>A	c.(223-225)tgG>tgA	p.W75*	FUCA2_ENST00000367585.1_5'UTR|FUCA2_ENST00000438118.2_Splice_Site_p.W75*	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GCCAATACCACCTAAGGGGAG	0.388													8	117	---	---	---	---	0	0
VPS13B	157680	broad.mit.edu	37	8	100160146	100160146	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr8:100160146A>G	ENST00000395996.1	+	14	2032	c.1921A>G	c.(1921-1923)Aca>Gca	p.T641A	VPS13B_ENST00000357162.2_Missense_Mutation_p.T641A|VPS13B_ENST00000358544.2_Missense_Mutation_p.T641A|VPS13B_ENST00000355155.1_Missense_Mutation_p.T641A			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	641					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACTCGACATACAAGTGTTAC	0.343													4	239	---	---	---	---	0	0
SPATC1	375686	broad.mit.edu	37	8	145094892	145094892	+	Silent	SNP	C	C	T	rs151043400		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr8:145094892C>T	ENST00000377470.3	+	2	396	c.294C>T	c.(292-294)gcC>gcT	p.A98A	SPATC1_ENST00000447830.2_Silent_p.A98A	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	98										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCCCTGGCCGAGATGCTAA	0.637													4	129	---	---	---	---	0	0
PRPF19	27339	broad.mit.edu	37	11	60668386	60668386	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:60668386T>C	ENST00000227524.4	-	9	863	c.658A>G	c.(658-660)Agc>Ggc	p.S220G		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	220					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CCAGGAATGCTGGCACTGTGC	0.607													8	79	---	---	---	---	0	0
RELA	5970	broad.mit.edu	37	11	65426194	65426194	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:65426194T>C	ENST00000525693.1	-	7	721	c.659A>G	c.(658-660)cAg>cGg	p.Q220R	RELA_ENST00000406246.3_Missense_Mutation_p.Q220R|RELA_ENST00000308639.9_Missense_Mutation_p.Q217R			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	220	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TATACCTTTCTGCACCTTGTC	0.562													16	146	---	---	---	---	0	0
ERC1	23085	broad.mit.edu	37	12	1192464	1192464	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr12:1192464G>T	ENST00000397203.2	+	3	1210	c.804G>T	c.(802-804)caG>caT	p.Q268H	ERC1_ENST00000543086.3_Missense_Mutation_p.Q268H|ERC1_ENST00000360905.4_Missense_Mutation_p.Q268H|ERC1_ENST00000355446.5_Missense_Mutation_p.Q268H|ERC1_ENST00000546231.2_Missense_Mutation_p.Q268H|ERC1_ENST00000589028.1_Missense_Mutation_p.Q268H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	268					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAACTTTCAGAGGCTTCATG	0.507													10	74	---	---	---	---	0	0
TFDP1	7027	broad.mit.edu	37	13	114290866	114290866	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr13:114290866A>G	ENST00000375370.5	+	10	1069	c.857A>G	c.(856-858)aAt>aGt	p.N286S	TFDP1_ENST00000538138.1_Missense_Mutation_p.N191S|TFDP1_ENST00000544902.1_Missense_Mutation_p.N191S	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	286	DCB2.|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TATCTGTTTAATTTTGACAAC	0.542										TSP Lung(29;0.18)			6	128	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419654	105419654	+	Missense_Mutation	SNP	G	G	A	rs150847607	by1000genomes	TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr14:105419654G>A	ENST00000333244.5	-	7	2253	c.2134C>T	c.(2134-2136)Ctc>Ttc	p.L712F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	712						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCATGGAGAGGAGGCTCACG	0.617													5	328	---	---	---	---	0	0
NLRC5	84166	broad.mit.edu	37	16	57101678	57101678	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr16:57101678T>A	ENST00000436936.1	+	36	4662	c.4437T>A	c.(4435-4437)gaT>gaA	p.D1479E	NLRC5_ENST00000262510.6_Missense_Mutation_p.D1479E|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1450E|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1450E			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1479					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTGAGGACGATGATGCCAGTT	0.507													4	159	---	---	---	---	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39383026	39383026	+	Silent	SNP	C	C	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:39383026C>T	ENST00000377721.3	+	1	127	c.120C>T	c.(118-120)ccC>ccT	p.P40P	KRTAP9-2_ENST00000455970.2_Silent_p.P40P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	40	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCCAGCCCGCCTGCTGTG	0.637													10	183	---	---	---	---	0	0
CBX4	8535	broad.mit.edu	37	17	77807801	77807801	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:77807801G>A	ENST00000269397.4	-	5	1817	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	547	Interaction with RNF2.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAGGCAGTTCGCGGTGACGTC	0.622													7	141	---	---	---	---	0	0
LILRA5	353514	broad.mit.edu	37	19	54822827	54822827	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr19:54822827G>A	ENST00000301219.3	-	5	688	c.569C>T	c.(568-570)aCc>aTc	p.T190I	LILRA5_ENST00000346508.3_Missense_Mutation_p.T178I|LILRA5_ENST00000446712.3_Missense_Mutation_p.T178I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.T190I	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	190	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCACTGGGGGTCAGCTGTGA	0.597													4	71	---	---	---	---	0	0
ZMYND8	23613	broad.mit.edu	37	20	45927599	45927599	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr20:45927599G>C	ENST00000311275.7	-	4	520	c.267C>G	c.(265-267)ttC>ttG	p.F89L	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F84L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.F64L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.F116L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.F109L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F84L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F84L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	89							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCCAGCAGTAGAAATCATTCC	0.502													4	85	---	---	---	---	0	0
NEGR1	257194	broad.mit.edu	37	1	72241872	72241872	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:72241872C>T	ENST00000357731.5	-	3	757	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	NEGR1_ENST00000306821.3_Missense_Mutation_p.R45Q|NEGR1_ENST00000434200.1_Missense_Mutation_p.R171Q|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1		Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGAGATGTGTCGCCAAGAAAT	0.418													3	38	---	---	---	---	0	0
GNAT2	2780	broad.mit.edu	37	1	110146052	110146052	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:110146052T>A	ENST00000351050.3	-	8	1175	c.989A>T	c.(988-990)cAg>cTg	p.Q330L		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	330					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTTGACATTCTGTGTATCTGT	0.403													4	61	---	---	---	---	0	0
NBPF15	284565	broad.mit.edu	37	1	148594407	148594407	+	Missense_Mutation	SNP	G	G	A	rs144416833	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:148594407G>A	ENST00000442702.2	+	21	2847	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M	NBPF15_ENST00000369187.3_Missense_Mutation_p.V594M	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	594	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					GCTCTACGGCGTGCTGATGGA	0.458													13	286	---	---	---	---	0	0
VCAN	1462	broad.mit.edu	37	5	82833276	82833276	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr5:82833276C>T	ENST00000265077.3	+	8	5019	c.4454C>T	c.(4453-4455)aCt>aTt	p.T1485I	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T498I|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1485	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGCCTGAGACTTACCCTGAA	0.423													4	68	---	---	---	---	0	0
FAM65B	9750	broad.mit.edu	37	6	24848254	24848254	+	Splice_Site	SNP	A	A	C			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr6:24848254A>C	ENST00000259698.4	-	12	1251	c.1076T>G	c.(1075-1077)tTt>tGt	p.F359C	FAM65B_ENST00000510784.2_Splice_Site_p.F393C|FAM65B_ENST00000540914.1_Splice_Site_p.F359C|FAM65B_ENST00000538035.1_Splice_Site_p.F388C|FAM65B_ENST00000378023.4_Splice_Site_p.F359C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	359					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGAACTTACAAAGAAGGAGTG	0.507													16	44	---	---	---	---	0	0
BRAF	673	broad.mit.edu	37	7	140453145	140453145	+	Missense_Mutation	SNP	A	A	C	rs121913368		TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr7:140453145A>C	ENST00000288602.6	-	15	1850	c.1790T>G	c.(1789-1791)cTa>cGa	p.L597R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	597	Protein kinase.		L -> R (in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation).|L -> V (in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L597R(14)|p.L597S(9)|p.L597Q(8)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CACTGTAGCTAGACCAAAATC	0.383		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	92	---	---	---	---	0	0
RIMS2	9699	broad.mit.edu	37	8	104934014	104934014	+	Splice_Site	SNP	T	T	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr8:104934014T>A	ENST00000507740.1	+	8	1856		c.e8+2		RIMS2_ENST00000436393.2_Splice_Site|RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAACTTTCAGTATGTAGTCAT	0.338										HNSCC(12;0.0054)			7	47	---	---	---	---	0	0
MYO3A	53904	broad.mit.edu	37	10	26465766	26465766	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr10:26465766G>T	ENST00000265944.5	+	31	4596	c.4430G>T	c.(4429-4431)tGc>tTc	p.C1477F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1477					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTCAGCAGTGCCTCTCAGGT	0.373													4	58	---	---	---	---	0	0
PDHX	8050	broad.mit.edu	37	11	34991708	34991708	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr11:34991708C>T	ENST00000448838.3	+	7	1036	c.794C>T	c.(793-795)gCc>gTc	p.A265V	PDHX_ENST00000227868.4_Missense_Mutation_p.A280V|PDHX_ENST00000430469.2_Intron	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	280					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GAAATCCCCGCCAGCAATATT	0.383													12	44	---	---	---	---	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216043	20216043	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr14:20216043G>A	ENST00000331723.1	+	1	457	c.457G>A	c.(457-459)Ggt>Agt	p.G153S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTGTGGGGGTTTTATCCA	0.498													10	39	---	---	---	---	0	0
BAHD1	22893	broad.mit.edu	37	15	40750961	40750961	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr15:40750961C>T	ENST00000561234.1	+	2	557	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	BAHD1_ENST00000560846.1_Missense_Mutation_p.P100S|BAHD1_ENST00000416165.1_Missense_Mutation_p.P100S			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	100					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCCAAGCCCCCCAGCCCGGC	0.657													9	73	---	---	---	---	0	0
SLC30A4	7782	broad.mit.edu	37	15	45777429	45777429	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr15:45777429T>C	ENST00000261867.4	-	8	1536	c.1222A>G	c.(1222-1224)Att>Gtt	p.I408V	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	408					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TGAAGCTGAATAGTACATCTA	0.378													3	34	---	---	---	---	0	0
ESF1	51575	broad.mit.edu	37	20	13695683	13695683	+	Silent	SNP	T	T	C			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr20:13695683T>C	ENST00000202816.1	-	14	2501	c.2394A>G	c.(2392-2394)gaA>gaG	p.E798E		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	798	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTTCTTTCCGTTCTCTTTGCC	0.398													29	121	---	---	---	---	0	0
SPATA21	374955	broad.mit.edu	37	1	16727315	16727315	+	Silent	SNP	C	C	A			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr1:16727315C>A	ENST00000335496.1	-	11	1556	c.1074G>T	c.(1072-1074)cgG>cgT	p.R358R	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.R335R	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	358							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCTTCTGCAACCGCAGCCGGC	0.577													8	180	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	141092024	141092024	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr2:141092024G>T	ENST00000389484.3	-	79	13192	c.12221C>A	c.(12220-12222)aCa>aAa	p.T4074K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4074					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCATACCTGTGGGTCTCTG	0.363										TSP Lung(27;0.18)			4	50	---	---	---	---	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216864	26216864	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr6:26216864T>A	ENST00000244601.3	-	1	8	c.8A>T	c.(7-9)gAa>gTa	p.E3V		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	3					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CTTAGCTGGTTCAGGCATGCT	0.478													7	75	---	---	---	---	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328408	61328408	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr18:61328408G>T	ENST00000283752.5	-	2	186	c.43C>A	c.(43-45)Ctg>Atg	p.L15M	SERPINB3_ENST00000332821.8_Missense_Mutation_p.L15M|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	15					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTTGGAACAGGTCGAACATG	0.433													8	153	---	---	---	---	0	0
C1orf87	127795	broad.mit.edu	37	1	60456420	60456420	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:60456420G>C	ENST00000371201.3	-	12	1673	c.1566C>G	c.(1564-1566)gaC>gaG	p.D522E	C1orf87_ENST00000395552.1_Missense_Mutation_p.D156E|C1orf87_ENST00000450089.2_Missense_Mutation_p.D293E|C1orf87_ENST00000486478.1_5'UTR	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	522							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAAGGCCTGGTCGATTTTCT	0.488													50	158	---	---	---	---	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885841	180885841	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:180885841C>T	ENST00000367588.4	+	2	657	c.602C>T	c.(601-603)cCg>cTg	p.P201L		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	201										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GACAGAGGTCCGCTGCTGGGG	0.612													6	105	---	---	---	---	0	0
TATDN3	128387	broad.mit.edu	37	1	212985626	212985626	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:212985626A>G	ENST00000366974.4	+	9	731	c.637A>G	c.(637-639)Ata>Gta	p.I213V	TATDN3_ENST00000531963.1_Missense_Mutation_p.I220V|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526997.1_Missense_Mutation_p.Y174C|TATDN3_ENST00000366973.4_Missense_Mutation_p.I212V|TATDN3_ENST00000532324.1_Missense_Mutation_p.I220V|TATDN3_ENST00000526641.1_Missense_Mutation_p.I192V	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	213						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TTTAACTTCTATATGCTTAGA	0.294													11	21	---	---	---	---	0	0
ETAA1	54465	broad.mit.edu	37	2	67632038	67632038	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr2:67632038A>C	ENST00000272342.5	+	5	2354	c.2224A>C	c.(2224-2226)Atc>Ctc	p.I742L	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	742						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GTATTCTAAGATCTCAAACTG	0.348													4	32	---	---	---	---	0	0
SCN5A	6331	broad.mit.edu	37	3	38647629	38647629	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr3:38647629G>T	ENST00000413689.1	-	10	1344	c.1151C>A	c.(1150-1152)tCc>tAc	p.S384Y	SCN5A_ENST00000451551.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000333535.4_Missense_Mutation_p.S384Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000423572.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000414099.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000425664.1_Missense_Mutation_p.S384Y	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	384					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTCCCTGCGGACCTGAGGGT	0.572													7	33	---	---	---	---	0	0
STAG1	10274	broad.mit.edu	37	3	136221497	136221497	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr3:136221497C>G	ENST00000383202.2	-	8	1057	c.801G>C	c.(799-801)ttG>ttC	p.L267F	STAG1_ENST00000434713.2_Missense_Mutation_p.L41F|STAG1_ENST00000236698.5_Missense_Mutation_p.L267F	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	267					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTAGTAACTCCAACCTTTCAT	0.348													9	49	---	---	---	---	0	0
GPR98	84059	broad.mit.edu	37	5	90052835	90052835	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr5:90052835C>T	ENST00000405460.2	+	57	11893	c.11797C>T	c.(11797-11799)Ccc>Tcc	p.P3933S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3933					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTGCCTCCACCCTTGAACGT	0.443													6	35	---	---	---	---	0	0
PCDHB1	0	broad.mit.edu	37	5	140432441	140432441	+	Silent	SNP	A	A	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr5:140432441A>C	ENST00000306549.3	+	1	1463	c.1386A>C	c.(1384-1386)cgA>cgC	p.R462R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		462	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACTGTTCGAGAAAACAACA	0.418													17	31	---	---	---	---	0	0
PHIP	55023	broad.mit.edu	37	6	79713461	79713461	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr6:79713461T>C	ENST00000275034.4	-	16	1806	c.1639A>G	c.(1639-1641)Agc>Ggc	p.S547G		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	547					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCATATTTGCTACTGGACCCA	0.383													6	14	---	---	---	---	0	0
SEMA3E	9723	broad.mit.edu	37	7	83016314	83016314	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr7:83016314C>G	ENST00000307792.3	-	15	2187	c.1720G>C	c.(1720-1722)Gga>Cga	p.G574R	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G514R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	574					axon guidance	extracellular space|membrane	receptor activity	p.G574R(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACTGTTGTCCAAAGCACTGC	0.358													7	9	---	---	---	---	0	0
SPAM1	0	broad.mit.edu	37	7	123594258	123594258	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr7:123594258C>A	ENST00000340011.5	+	3	991	c.634C>A	c.(634-636)Cca>Aca	p.P212T	SPAM1_ENST00000223028.7_Missense_Mutation_p.P212T|SPAM1_ENST00000460182.1_Missense_Mutation_p.P212T|SPAM1_ENST00000402183.2_Missense_Mutation_p.P212T|SPAM1_ENST00000439500.1_Missense_Mutation_p.P212T	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	212					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATTACTTCGGCCAAATCACTT	0.378													4	26	---	---	---	---	0	0
RP1	6101	broad.mit.edu	37	8	55542611	55542611	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr8:55542611C>G	ENST00000220676.1	+	4	6317	c.6169C>G	c.(6169-6171)Cag>Gag	p.Q2057E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2057					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTCAGCGGTCAGACAAATGA	0.348													10	34	---	---	---	---	0	0
ZWINT	0	broad.mit.edu	37	10	58118485	58118485	+	Splice_Site	SNP	C	C	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:58118485C>A	ENST00000373944.3	-	7	662	c.624G>T	c.(622-624)agG>agT	p.R208S	ZWINT_ENST00000460654.1_Intron|ZWINT_ENST00000395405.1_Splice_Site_p.R208S|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000318387.2_Splice_Site_p.R88S			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	208					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						AGGTCTGATACCTACAAAGAG	0.517													15	25	---	---	---	---	0	0
IFIT2	3433	broad.mit.edu	37	10	91066539	91066539	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:91066539T>A	ENST00000371826.3	+	2	995	c.826T>A	c.(826-828)Tac>Aac	p.Y276N	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	276					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GGCTTTAGAATACATACCAAA	0.418													12	45	---	---	---	---	0	0
C10orf118	55088	broad.mit.edu	37	10	115917401	115917401	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:115917401A>G	ENST00000369287.3	-	3	937	c.671T>C	c.(670-672)gTa>gCa	p.V224A		NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	224										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ACAAATGTCTACGAAGAGCTC	0.284													7	10	---	---	---	---	0	0
C11orf57	55216	broad.mit.edu	37	11	111948994	111948994	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr11:111948994A>G	ENST00000532163.1	+	3	804	c.38A>G	c.(37-39)gAt>gGt	p.D13G	C11orf57_ENST00000530104.1_Missense_Mutation_p.D42G|C11orf57_ENST00000393047.3_Missense_Mutation_p.D42G|C11orf57_ENST00000280352.9_Missense_Mutation_p.D42G|C11orf57_ENST00000420986.2_Missense_Mutation_p.D42G			Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	42										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CAGATGGAAGATGCTTACCGG	0.338													6	16	---	---	---	---	0	0
PSMC6	5706	broad.mit.edu	37	14	53173992	53173992	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr14:53173992C>T	ENST00000445930.2	+	1	103	c.97C>T	c.(97-99)Cac>Tac	p.H33Y	PSMC6_ENST00000606149.1_Missense_Mutation_p.H19Y			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GTTGCTTGAACACAAGGAGAT	0.532													16	29	---	---	---	---	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42439840	42439840	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:42439840C>T	ENST00000397272.3	-	12	1277	c.1186G>A	c.(1186-1188)Gtc>Atc	p.V396I	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.V394I	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	394	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GACCCAGAGACCCCACTCAGG	0.602													8	188	---	---	---	---	0	0
DUOX1	53905	broad.mit.edu	37	15	45433155	45433155	+	Silent	SNP	G	G	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:45433155G>A	ENST00000321429.4	+	14	1859	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	DUOX1_ENST00000389037.3_Silent_p.G484G|DUOX1_ENST00000561166.1_Silent_p.G130G	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	484	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCTCCCTGGGGGACTCCTGG	0.572													33	50	---	---	---	---	0	0
MYO9A	4649	broad.mit.edu	37	15	72244228	72244228	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:72244228T>C	ENST00000356056.5	-	15	2664	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	MYO9A_ENST00000444904.1_Missense_Mutation_p.D712G|MYO9A_ENST00000564571.1_Missense_Mutation_p.D731G|MYO9A_ENST00000566885.1_Missense_Mutation_p.D326G|MYO9A_ENST00000424560.1_Missense_Mutation_p.D731G|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	731					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGCGCTGTATCATCATGTCC	0.378													20	37	---	---	---	---	0	0
PDPR	55066	broad.mit.edu	37	16	70162938	70162938	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr16:70162938C>A	ENST00000288050.4	+	6	1477	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	PDPR_ENST00000398122.3_Missense_Mutation_p.L74M|PDPR_ENST00000568530.1_Missense_Mutation_p.L174M	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	174					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGTGCACGACCTGGTGGGGGC	0.552													37	241	---	---	---	---	0	0
DNAH9	1770	broad.mit.edu	37	17	11687706	11687706	+	Silent	SNP	C	C	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr17:11687706C>T	ENST00000262442.4	+	41	7979	c.7911C>T	c.(7909-7911)ctC>ctT	p.L2637L	DNAH9_ENST00000454412.2_Silent_p.L2637L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2637L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCTGAAGCTCGGAAACTTCC	0.557													7	140	---	---	---	---	0	0
CXADRP3	0	broad.mit.edu	37	18	14478680	14478680	+	RNA	SNP	C	C	G			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr18:14478680C>G	ENST00000581457.1	-	0	1228					NR_024076.1																						CAGATATAAACAGATGAAGTC	0.413													8	10	---	---	---	---	0	0
SMOX	54498	broad.mit.edu	37	20	4155731	4155731	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr20:4155731G>T	ENST00000305958.4	+	2	254	c.29G>T	c.(28-30)aGt>aTt	p.S10I	SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000339123.6_Missense_Mutation_p.S10I|SMOX_ENST00000278795.3_Missense_Mutation_p.S10I|SMOX_ENST00000379460.2_Missense_Mutation_p.S10I|SMOX_ENST00000346595.2_Missense_Mutation_p.S10I	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	10					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGTGGTGACAGTGCGGATGAC	0.607													38	134	---	---	---	---	0	0
GRPR	2925	broad.mit.edu	37	X	16142274	16142274	+	Silent	SNP	T	T	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:16142274T>C	ENST00000380289.2	+	1	596	c.198T>C	c.(196-198)tgT>tgC	p.C66C		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	66					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					AGATCTTCTGTACAGTCAAGT	0.493											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	57	---	---	---	---	0	0
ZMYM3	9203	broad.mit.edu	37	X	70462164	70462164	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:70462164A>C	ENST00000373998.1	-	23	4319	c.3622T>G	c.(3622-3624)Ttt>Gtt	p.F1208V	ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1220V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.F1220V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1222V|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1220					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGCAGCCCAAAAAACTTAGTG	0.562													11	6	---	---	---	---	0	0
KLHL4	0	broad.mit.edu	37	X	86919798	86919798	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:86919798G>C	ENST00000373119.4	+	10	2105	c.1960G>C	c.(1960-1962)Gca>Cca	p.A654P	KLHL4_ENST00000373114.4_Missense_Mutation_p.A654P	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	654						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTCAACTGTGGCACCTCTGAG	0.418													10	7	---	---	---	---	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637361	23637361	+	Silent	SNP	G	G	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr1:23637361G>C	ENST00000478691.1	-	10	1465	c.1194C>G	c.(1192-1194)ggC>ggG	p.G398G	HNRNPR_ENST00000606561.1_Silent_p.G357G|HNRNPR_ENST00000374616.3_Silent_p.G499G|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374612.1_Silent_p.G496G|HNRNPR_ENST00000302271.6_Silent_p.G496G|HNRNPR_ENST00000426846.2_Silent_p.G336G|HNRNPR_ENST00000427764.2_Silent_p.G458G	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	496	RRM 3.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ttactGCATAGCCATCATCAT	0.498													27	67	---	---	---	---	0	0
ZEB2	9839	broad.mit.edu	37	2	145157536	145157536	+	Silent	SNP	T	T	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:145157536T>C	ENST00000558170.2	-	8	2402	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	ZEB2_ENST00000539609.3_Silent_p.T382T|ZEB2_ENST00000409487.3_Silent_p.T406T|ZEB2_ENST00000303660.4_Silent_p.T406T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	406						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TAAACCCGTGTGTAGCCATAA	0.433													5	87	---	---	---	---	0	0
FIGN	55137	broad.mit.edu	37	2	164466569	164466569	+	Silent	SNP	G	G	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:164466569G>C	ENST00000333129.3	-	3	2087	c.1773C>G	c.(1771-1773)ctC>ctG	p.L591L	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	591						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTTGAGAGGAGAGAAGCATGT	0.468													7	57	---	---	---	---	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169716116	169716116	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:169716116G>T	ENST00000444448.2	+	16	1795	c.1319G>T	c.(1318-1320)tGt>tTt	p.C440F	NOSTRIN_ENST00000421711.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.C440F|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.C383F			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	383	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AGCCATCCTTGTAGTAATTCC	0.433													4	98	---	---	---	---	0	0
NCKAP1	10787	broad.mit.edu	37	2	183847593	183847593	+	Silent	SNP	A	A	G			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:183847593A>G	ENST00000361354.4	-	12	1536	c.1164T>C	c.(1162-1164)caT>caC	p.H388H	NCKAP1_ENST00000360982.2_Silent_p.H394H	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGTTATCTGCATGACGAAGTA	0.313													12	56	---	---	---	---	0	0
BRPF1	7862	broad.mit.edu	37	3	9780727	9780727	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr3:9780727A>G	ENST00000383829.2	+	3	1048	c.644A>G	c.(643-645)tAt>tGt	p.Y215C	BRPF1_ENST00000424362.1_Missense_Mutation_p.Y215C|BRPF1_ENST00000457855.1_Missense_Mutation_p.Y215C|BRPF1_ENST00000302054.3_Missense_Mutation_p.Y215C|BRPF1_ENST00000433861.2_Missense_Mutation_p.Y215C	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	215	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GAAGTAGAGTATGACATGGAC	0.498													8	43	---	---	---	---	0	0
RPL15	6138	broad.mit.edu	37	3	23960791	23960791	+	Silent	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr3:23960791C>T	ENST00000307839.5	+	4	1053	c.414C>T	c.(412-414)ttC>ttT	p.F138F	RPL15_ENST00000415719.1_Silent_p.F138F|RPL15_ENST00000413699.1_Silent_p.F138F|RPL15_ENST00000456530.2_Intron|RPL15_ENST00000354811.5_Silent_p.F138F|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000435882.1_Silent_p.F138F	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	138					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTGATCCATTCCATAAAGCTA	0.493													10	48	---	---	---	---	0	0
PCDH18	54510	broad.mit.edu	37	4	138452902	138452902	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr4:138452902G>A	ENST00000344876.4	-	1	727	c.341C>T	c.(340-342)cCc>cTc	p.P114L	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P114L|PCDH18_ENST00000507846.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	114	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATGCTCTGTGGGTAGAGTGAT	0.408													4	136	---	---	---	---	0	0
CEP44	80817	broad.mit.edu	37	4	175225405	175225405	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr4:175225405C>T	ENST00000503780.1	+	6	806	c.392C>T	c.(391-393)tCa>tTa	p.S131L	CEP44_ENST00000426172.1_Missense_Mutation_p.S131L|CEP44_ENST00000296519.4_Missense_Mutation_p.S131L|CEP44_ENST00000457424.2_Missense_Mutation_p.S131L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	131						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TAGATTCCATCACAACAAAGA	0.303													9	51	---	---	---	---	0	0
ANKHD1	54882	broad.mit.edu	37	5	139905804	139905804	+	Silent	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr5:139905804G>A	ENST00000297183.6	+	26	4840	c.4716G>A	c.(4714-4716)aaG>aaA	p.K1572K	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K1572K|ANKHD1_ENST00000544120.1_5'UTR|ANKHD1_ENST00000360839.2_Silent_p.K1572K	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACAAAAGGCAGATAAAA	0.393													4	190	---	---	---	---	0	0
TAAR6	319100	broad.mit.edu	37	6	132891765	132891765	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr6:132891765G>A	ENST00000275198.1	+	1	305	c.305G>A	c.(304-306)aGg>aAg	p.R102K		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	102						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TATTTTGGGAGGAGTTTTTGT	0.493													23	92	---	---	---	---	0	0
HECA	51696	broad.mit.edu	37	6	139487664	139487664	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr6:139487664C>T	ENST00000367658.2	+	2	800	c.515C>T	c.(514-516)gCc>gTc	p.A172V	RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	172					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TACGACCTGGCCTTCCGCTTC	0.572													22	70	---	---	---	---	0	0
MLLT4	4301	broad.mit.edu	37	6	168352505	168352505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr6:168352505C>T	ENST00000366806.2	+	30	4592	c.4450C>T	c.(4450-4452)Cag>Tag	p.Q1484*	MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q1483*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q1491*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q1467*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1484					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCTGCAGCCTCAGCAGCAGCC	0.597			T	MLL	AL								19	106	---	---	---	---	0	0
RADIL	55698	broad.mit.edu	37	7	4874799	4874799	+	Silent	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr7:4874799G>A	ENST00000399583.3	-	4	1042	c.855C>T	c.(853-855)agC>agT	p.S285S	RADIL_ENST00000538469.1_Silent_p.S45S|RADIL_ENST00000536091.1_Silent_p.S285S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	285					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGAGGCTGATGCTGGGCTTGC	0.692													4	15	---	---	---	---	0	0
FAM188B	84182	broad.mit.edu	37	7	30818114	30818114	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr7:30818114A>G	ENST00000265299.6	+	2	207	c.130A>G	c.(130-132)Aga>Gga	p.R44G	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	44										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATAAACAACAGAAATGATCT	0.448													17	61	---	---	---	---	0	0
PAX4	5078	broad.mit.edu	37	7	127253123	127253123	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr7:127253123G>C	ENST00000341640.2	-	6	849	c.644C>G	c.(643-645)gCc>gGc	p.A215G	PAX4_ENST00000378740.2_Missense_Mutation_p.A215G|PAX4_ENST00000338516.3_Missense_Mutation_p.A223G|PAX4_ENST00000463946.1_Missense_Mutation_p.A213G	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	223					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACGCCATTTGGCTCTTCTGTT	0.522													18	44	---	---	---	---	0	0
VPS28	51160	broad.mit.edu	37	8	145649503	145649503	+	Silent	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr8:145649503G>A	ENST00000377348.2	-	9	558	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	VPS28_ENST00000292510.4_Silent_p.L157L|VPS28_ENST00000526054.1_Silent_p.L157L|VPS28_ENST00000529182.1_Silent_p.L157L	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	157	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCTCTCGCAGGTCGGGCTGG	0.677													3	54	---	---	---	---	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606322	84606322	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr9:84606322C>G	ENST00000344803.2	+	4	984	c.937C>G	c.(937-939)Cag>Gag	p.Q313E		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CACTGTGACTCAGTCTAAATC	0.478													82	169	---	---	---	---	0	0
TMEM72	643236	broad.mit.edu	37	10	45430339	45430339	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr10:45430339G>T	ENST00000544540.1	+	4	715	c.231G>T	c.(229-231)aaG>aaT	p.K77N	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	195						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						GGACTAAGAAGCCCAGTGCCC	0.582													5	171	---	---	---	---	0	0
NLRP14	338323	broad.mit.edu	37	11	7060028	7060028	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr11:7060028G>A	ENST00000299481.4	+	2	557	c.211G>A	c.(211-213)Gcc>Acc	p.A71T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	71	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGGAGAGAAAGCCTGGAGTGT	0.483													6	34	---	---	---	---	0	0
FGF4	2249	broad.mit.edu	37	11	69588217	69588217	+	Missense_Mutation	SNP	G	G	T	rs140567674	byFrequency	TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr11:69588217G>T	ENST00000168712.1	-	3	799	c.481C>A	c.(481-483)Ctc>Atc	p.L161I	FGF4_ENST00000538040.1_5'UTR	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	161					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	TTGGGAAGGAGAATCTCCTTG	0.567													5	116	---	---	---	---	0	0
GPR83	10888	broad.mit.edu	37	11	94113908	94113908	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr11:94113908C>A	ENST00000243673.2	-	4	850	c.679G>T	c.(679-681)Gac>Tac	p.D227Y	GPR83_ENST00000539203.2_Missense_Mutation_p.D185Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	227						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAGGGAAGTCTGGCAGGCAG	0.567													12	36	---	---	---	---	0	0
SLC38A6	145389	broad.mit.edu	37	14	61503802	61503802	+	Silent	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr14:61503802C>T	ENST00000354886.2	+	7	672	c.508C>T	c.(508-510)Cta>Tta	p.L170L	SLC38A6_ENST00000267488.4_Silent_p.L170L|SLC38A6_ENST00000456840.2_Silent_p.L147L	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	170					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGGACAAACACTACTAATAAT	0.358													6	62	---	---	---	---	0	0
TTLL5	23093	broad.mit.edu	37	14	76349085	76349085	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr14:76349085G>A	ENST00000298832.9	+	30	3785	c.3580G>A	c.(3580-3582)Gca>Aca	p.A1194T	TTLL5_ENST00000554510.1_Missense_Mutation_p.A703T|TTLL5_ENST00000557636.1_Missense_Mutation_p.A1209T|TTLL5_ENST00000556893.1_Missense_Mutation_p.A745T	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1194					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAATAATGGTGCAGGTTGTAG	0.453													17	60	---	---	---	---	0	0
NRDE2	55051	broad.mit.edu	37	14	90770672	90770672	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr14:90770672T>C	ENST00000354366.3	-	5	844	c.612A>G	c.(610-612)atA>atG	p.I204M	NRDE2_ENST00000357904.3_De_novo_Start_InFrame	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CTTCCCAAGATATGCACTGCT	0.413													11	46	---	---	---	---	0	0
WIPI1	55062	broad.mit.edu	37	17	66440641	66440641	+	Silent	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:66440641G>A	ENST00000262139.5	-	4	422	c.423C>T	c.(421-423)aaC>aaT	p.N141N	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.N59N	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	141					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CACCTGTTGGGTTTGCAGGAA	0.423													19	53	---	---	---	---	0	0
C17orf80	55028	broad.mit.edu	37	17	71232290	71232290	+	Silent	SNP	G	G	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:71232290G>T	ENST00000359042.2	+	3	863	c.669G>T	c.(667-669)gtG>gtT	p.V223V	C17orf80_ENST00000426147.2_Silent_p.V223V|C17orf80_ENST00000577615.1_Silent_p.V223V|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000535032.2_Silent_p.V223V|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Silent_p.V223V|C17orf80_ENST00000255557.4_Silent_p.V223V	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	223						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TACTAGATGTGCCTACTGGTG	0.388													9	53	---	---	---	---	0	0
C17orf80	55028	broad.mit.edu	37	17	71232291	71232291	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:71232291C>T	ENST00000359042.2	+	3	864	c.670C>T	c.(670-672)Cct>Tct	p.P224S	C17orf80_ENST00000426147.2_Missense_Mutation_p.P224S|C17orf80_ENST00000577615.1_Missense_Mutation_p.P224S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000535032.2_Missense_Mutation_p.P224S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.P224S|C17orf80_ENST00000255557.4_Missense_Mutation_p.P224S	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	224						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			ACTAGATGTGCCTACTGGTGA	0.383													9	54	---	---	---	---	0	0
LONP1	9361	broad.mit.edu	37	19	5711843	5711843	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr19:5711843A>C	ENST00000360614.3	-	4	966	c.809T>G	c.(808-810)gTg>gGg	p.V270G	LONP1_ENST00000593119.1_Missense_Mutation_p.V206G|LONP1_ENST00000590729.1_Missense_Mutation_p.V156G|LONP1_ENST00000585374.1_Missense_Mutation_p.V156G|LONP1_ENST00000540670.2_Missense_Mutation_p.V74G	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	270	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCATGAGCACCTCAGCCGG	0.657													7	69	---	---	---	---	0	0
OR7D4	125958	broad.mit.edu	37	19	9325026	9325026	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr19:9325026A>C	ENST00000308682.2	-	1	516	c.488T>G	c.(487-489)aTg>aGg	p.M163R		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CAACCTCTTCATCAGTAGAAT	0.512													20	52	---	---	---	---	0	0
NLRP5	126206	broad.mit.edu	37	19	56515211	56515211	+	Silent	SNP	G	G	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr19:56515211G>C	ENST00000390649.3	+	2	192	c.192G>C	c.(190-192)ggG>ggC	p.G64G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	64	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCAGCTACGGGCTGCAATGGT	0.428													17	67	---	---	---	---	0	0
MED12	9968	broad.mit.edu	37	X	70349258	70349258	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chrX:70349258C>T	ENST00000333646.6	+	26	3869	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000374080.3_Missense_Mutation_p.L1224F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	26	---	---	---	---	0	0
UBXN10	127733	broad.mit.edu	37	1	20517106	20517106	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:20517106G>A	ENST00000375099.3	+	2	136	c.52G>A	c.(52-54)Gtc>Atc	p.V18I		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	18										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						TAGCACTGTTGTCAGCACAGC	0.517													18	76	---	---	---	---	0	0
COL8A2	1296	broad.mit.edu	37	1	36563588	36563588	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:36563588C>T	ENST00000397799.1	-	4	1918	c.1694G>A	c.(1693-1695)gGg>gAg	p.G565E	COL8A2_ENST00000481785.1_Missense_Mutation_p.G500E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G565E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	565	Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCGCCCAGCCCAAACTGTGG	0.677													7	15	---	---	---	---	0	0
AGL	178	broad.mit.edu	37	1	100382037	100382037	+	Missense_Mutation	SNP	A	A	G	rs143815159		TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:100382037A>G	ENST00000294724.4	+	32	4809	c.4331A>G	c.(4330-4332)aAt>aGt	p.N1444S	AGL_ENST00000361302.3_Missense_Mutation_p.N1428S|AGL_ENST00000361522.4_Missense_Mutation_p.N1427S|AGL_ENST00000370165.3_Missense_Mutation_p.N1444S|AGL_ENST00000361915.3_Missense_Mutation_p.N1444S|AGL_ENST00000370163.3_Missense_Mutation_p.N1444S|AGL_ENST00000370161.2_Missense_Mutation_p.N1428S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1444					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AAAGGTTTCAATTATCACCAA	0.264													7	30	---	---	---	---	0	0
DTX3L	151636	broad.mit.edu	37	3	122283293	122283293	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr3:122283293C>T	ENST00000296161.4	+	1	209	c.20C>T	c.(19-21)cCg>cTg	p.P7L	PARP9_ENST00000477522.2_5'UTR|PARP9_ENST00000360356.2_5'UTR|DTX3L_ENST00000383661.3_Missense_Mutation_p.P7L	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	7					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CACCTGCGCCCGCCGTCCCCG	0.736													5	20	---	---	---	---	0	0
PRLR	5618	broad.mit.edu	37	5	35084650	35084650	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:35084650A>T	ENST00000382002.5	-	5	721	c.295T>A	c.(295-297)Tac>Aac	p.Y99N	PRLR_ENST00000397391.3_Missense_Mutation_p.Y28N|PRLR_ENST00000310101.5_Missense_Mutation_p.Y99N|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.Y99N|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.Y99N|PRLR_ENST00000231423.3_Missense_Mutation_p.Y99N|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000348262.3_Missense_Mutation_p.Y99N	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	99	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATCATGATGTATGTCCTCCAC	0.483													4	128	---	---	---	---	0	0
CCNH	902	broad.mit.edu	37	5	86707138	86707138	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:86707138A>G	ENST00000256897.4	-	2	367	c.143T>C	c.(142-144)cTt>cCt	p.L48P	CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000513499.1_5'UTR	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	48					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		ATGAGGCTCAAGAAAGACTGG	0.343								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					6	45	---	---	---	---	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178585819	178585819	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:178585819G>A	ENST00000251582.7	-	6	1138	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A346V	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	346	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGGAGGTAGGCCCAGCGGCA	0.592													7	59	---	---	---	---	0	0
MYO6	4646	broad.mit.edu	37	6	76576719	76576719	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr6:76576719A>T	ENST00000369981.3	+	18	2120	c.1841A>T	c.(1840-1842)gAt>gTt	p.D614V	MYO6_ENST00000369977.3_Missense_Mutation_p.D614V|MYO6_ENST00000369975.1_Missense_Mutation_p.D614V|MYO6_ENST00000369985.4_Missense_Mutation_p.D614V			Q9UM54	MYO6_HUMAN	myosin VI	614	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAATCCAGAGATAAGTTTATA	0.318													12	24	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113267504	113267504	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr8:113267504C>A	ENST00000297405.5	-	62	10259	c.10015G>T	c.(10015-10017)Ggt>Tgt	p.G3339C	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3299C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3269C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3170C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3339	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTGATGAACCACTCCAAGTG	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	52	---	---	---	---	0	0
GRID1	2894	broad.mit.edu	37	10	87362425	87362425	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr10:87362425G>T	ENST00000327946.7	-	16	2720	c.2635C>A	c.(2635-2637)Cgc>Agc	p.R879S	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.R450S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	879						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGTTCATGCGCCGGTGGACC	0.577										Multiple Myeloma(13;0.14)			3	20	---	---	---	---	0	0
OR10G4	390264	broad.mit.edu	37	11	123886347	123886347	+	Silent	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr11:123886347C>T	ENST00000320891.4	+	1	66	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAGGGCTGGACGCCCTCCTCT	0.582													41	77	---	---	---	---	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40849769	40849769	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr17:40849769C>T	ENST00000264638.4	+	22	3983	c.3766C>T	c.(3766-3768)Ctt>Ttt	p.L1256F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1256					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TATGCCACGTCTTGTTTCAGA	0.562													5	123	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9085096	9085096	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:9085096G>T	ENST00000397910.4	-	1	6922	c.6719C>A	c.(6718-6720)cCt>cAt	p.P2240H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2240	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCATCTGAAGGTGTGTCAAT	0.473													11	19	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9086805	9086805	+	Silent	SNP	A	A	G			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:9086805A>G	ENST00000397910.4	-	1	5213	c.5010T>C	c.(5008-5010)agT>agC	p.S1670S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1670	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCTGTAGAACTTCTTCTTT	0.517													5	79	---	---	---	---	0	0
ZNF229	7772	broad.mit.edu	37	19	44933129	44933129	+	Silent	SNP	G	G	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:44933129G>A	ENST00000291187.4	-	6	2131	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	ZNF229_ENST00000588931.1_Silent_p.F609F|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCTGTAGATGAAACCCTTCC	0.557													14	65	---	---	---	---	0	0
FLRT3	23767	broad.mit.edu	37	20	14306920	14306920	+	Silent	SNP	A	A	G			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr20:14306920A>G	ENST00000378053.3	-	2	1489	c.1233T>C	c.(1231-1233)atT>atC	p.I411I	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.I411I|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	411	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGTAATTGTAATTGTTTTTC	0.458													50	143	---	---	---	---	0	0
C1orf159	54991	broad.mit.edu	37	1	1021259	1021259	+	Splice_Site	SNP	T	T	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:1021259T>G	ENST00000448924.1	-	8	983	c.552A>C	c.(550-552)aaA>aaC	p.K184N	C1orf159_ENST00000379320.1_Splice_Site_p.K148N|C1orf159_ENST00000437760.1_Splice_Site_p.K148N|C1orf159_ENST00000421241.2_Splice_Site_p.K148N|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Splice_Site_p.K184N|C1orf159_ENST00000294576.5_Splice_Site_p.K148N|C1orf159_ENST00000379319.1_Splice_Site_p.K148N			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	184						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGGAGATACCTTTGTTTCTTC	0.612													4	23	---	---	---	---	0	0
SYTL1	84958	broad.mit.edu	37	1	27675577	27675577	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:27675577G>C	ENST00000543823.1	+	5	928	c.466G>C	c.(466-468)Gat>Cat	p.D156H	SYTL1_ENST00000318074.5_Intron|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	156					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGGGACCTGATTTCCCATC	0.592													27	39	---	---	---	---	0	0
LY9	4063	broad.mit.edu	37	1	160771695	160771695	+	Silent	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:160771695G>A	ENST00000368039.2	+	3	571	c.570G>A	c.(568-570)gtG>gtA	p.V190V	LY9_ENST00000368037.5_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000263285.6_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000341032.4_Intron	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	0	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGTGAGCGTGCGGGAGGGCT	0.687													10	79	---	---	---	---	0	0
F13B	2165	broad.mit.edu	37	1	197008543	197008543	+	Splice_Site	SNP	T	T	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:197008543T>A	ENST00000367412.1	-	12	1996		c.e12-2			NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide						blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GACAGAGTGCTTGAGGGGAAA	0.303													4	151	---	---	---	---	0	0
SRGAP2	23380	broad.mit.edu	37	1	206610382	206610382	+	Silent	SNP	C	C	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:206610382C>G	ENST00000414007.1	+	11	1203	c.1203C>G	c.(1201-1203)gcC>gcG	p.A401A	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	541					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCAAAAATGCCTTTGAGAGAG	0.453													6	93	---	---	---	---	0	0
RYR2	6262	broad.mit.edu	37	1	237787069	237787069	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr1:237787069A>G	ENST00000366574.2	+	39	6238	c.5921A>G	c.(5920-5922)aAt>aGt	p.N1974S	RYR2_ENST00000360064.6_Missense_Mutation_p.N1972S|RYR2_ENST00000542537.1_Missense_Mutation_p.N1958S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1974	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTCAGATCAATATGCTTCTC	0.408													11	12	---	---	---	---	0	0
EPT1	85465	broad.mit.edu	37	2	26609300	26609300	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr2:26609300G>A	ENST00000260585.7	+	9	1110	c.991G>A	c.(991-993)Gtc>Atc	p.V331I		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	331					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										CTTCTTGGTTGTCTTAGTGGT	0.423													22	44	---	---	---	---	0	0
RAB6C	84084	broad.mit.edu	37	2	130738003	130738003	+	Silent	SNP	A	A	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr2:130738003A>G	ENST00000410061.2	+	1	769	c.315A>G	c.(313-315)acA>acG	p.T105T	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	105					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGCAAACTACAAAGTGGATTG	0.428													6	121	---	---	---	---	0	0
ITGB6	3694	broad.mit.edu	37	2	161030498	161030498	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr2:161030498G>A	ENST00000283249.2	-	5	983	c.746C>T	c.(745-747)gCt>gTt	p.A249V	ITGB6_ENST00000409872.1_Missense_Mutation_p.A249V|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.A207V|ITGB6_ENST00000409967.2_Missense_Mutation_p.A249V	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	249	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACACACAGCAGCTTGCATAAT	0.333													8	50	---	---	---	---	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64526848	64526848	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr3:64526848C>A	ENST00000498707.1	-	36	5786	c.5444G>T	c.(5443-5445)tGt>tTt	p.C1815F	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1787F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1815	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATCCTTCCGACATTGGCAGTC	0.453													36	47	---	---	---	---	0	0
LRIG1	26018	broad.mit.edu	37	3	66502033	66502033	+	Silent	SNP	T	T	C			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr3:66502033T>C	ENST00000383703.3	-	3	918	c.315A>G	c.(313-315)acA>acG	p.T105T	LRIG1_ENST00000273261.3_Silent_p.T105T			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	105						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ATGGTACCGCTGTCAACTCAT	0.443													41	50	---	---	---	---	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146622	185146622	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr3:185146622C>T	ENST00000265026.3	+	2	587	c.253C>T	c.(253-255)Ctt>Ttt	p.L85F	MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.L85F	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	85					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAACAGCGTTCTTCAGCTAAG	0.532													15	22	---	---	---	---	0	0
SFRP2	6423	broad.mit.edu	37	4	154709764	154709764	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr4:154709764T>C	ENST00000274063.4	-	1	508	c.224A>G	c.(223-225)cAg>cGg	p.Q75R		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	75	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGCGCCGGCCTGCTCCAGCAC	0.632													21	75	---	---	---	---	0	0
PPAP2A	8611	broad.mit.edu	37	5	54786858	54786858	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr5:54786858T>C	ENST00000264775.5	-	2	482	c.143A>G	c.(142-144)tAt>tGt	p.Y48C	PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000307259.8_Intron	NM_176895.1	NP_795714.1	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	47					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				ATGGTACGGATAGTTGATGCT	0.443													3	38	---	---	---	---	0	0
TIMD4	91937	broad.mit.edu	37	5	156381616	156381616	+	Silent	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr5:156381616G>A	ENST00000274532.2	-	2	266	c.210C>T	c.(208-210)cgC>cgT	p.R70R	TIMD4_ENST00000407087.3_Silent_p.R70R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	70	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCATCAGTGCGGATGAGCG	0.527													14	32	---	---	---	---	0	0
FILIP1	27145	broad.mit.edu	37	6	76022274	76022274	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr6:76022274C>A	ENST00000393004.2	-	5	3495	c.3274G>T	c.(3274-3276)Gtc>Ttc	p.V1092F	FILIP1_ENST00000370020.1_Missense_Mutation_p.V993F|FILIP1_ENST00000237172.7_Missense_Mutation_p.V1092F|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1092										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACTGGTCGGACAGTAATAACT	0.498													30	79	---	---	---	---	0	0
AUTS2	26053	broad.mit.edu	37	7	70228266	70228266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr7:70228266C>T	ENST00000342771.4	+	7	1474	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q385*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	385	Ser-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCCTCTGCTCAGAGCCTCTC	0.612													21	36	---	---	---	---	0	0
LRP12	29967	broad.mit.edu	37	8	105509980	105509980	+	Missense_Mutation	SNP	T	T	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr8:105509980T>G	ENST00000276654.5	-	5	908	c.800A>C	c.(799-801)tAt>tCt	p.Y267S	LRP12_ENST00000424843.2_Missense_Mutation_p.Y248S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	267	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAGTACCATAAAAATATTT	0.403													17	35	---	---	---	---	0	0
APBA1	320	broad.mit.edu	37	9	72131766	72131766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr9:72131766G>A	ENST00000265381.4	-	2	583	c.361C>T	c.(361-363)Cag>Tag	p.Q121*		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	121					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGCCGGTACTGCACAGCATAG	0.731													11	11	---	---	---	---	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860386	96860386	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr9:96860386C>G	ENST00000375360.3	+	7	1716	c.1376C>G	c.(1375-1377)tCa>tGa	p.S459*	PTPDC1_ENST00000288976.3_Nonsense_Mutation_p.S511*	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	459							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGGAGTCAGTCAAAGTTTGGA	0.473													7	29	---	---	---	---	0	0
SMC2	10592	broad.mit.edu	37	9	106882359	106882359	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr9:106882359A>G	ENST00000286398.7	+	16	2336	c.2048A>G	c.(2047-2049)gAt>gGt	p.D683G	SMC2_ENST00000374787.3_Missense_Mutation_p.D683G|SMC2_ENST00000303219.8_Missense_Mutation_p.D683G|SMC2_ENST00000374793.3_Missense_Mutation_p.D683G	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	683					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAACTCAAAGATGTTCAGGAT	0.413													8	110	---	---	---	---	0	0
SPAG6	9576	broad.mit.edu	37	10	22657474	22657474	+	Missense_Mutation	SNP	T	T	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:22657474T>G	ENST00000376603.2	+	4	709	c.567T>G	c.(565-567)caT>caG	p.H189Q	SPAG6_ENST00000313311.6_Missense_Mutation_p.H113Q|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.H88Q|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.H113Q			O75602	SPAG6_HUMAN	sperm associated antigen 6	113					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TTGGTAAACATTCTCCCCAGC	0.458													30	42	---	---	---	---	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968481	64968481	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:64968481C>G	ENST00000399262.2	-	10	3166	c.2948G>C	c.(2947-2949)aGg>aCg	p.R983T	JMJD1C_ENST00000399251.1_Missense_Mutation_p.R764T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R801T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R764T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	983					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTCTGTGACCTATTTAGATC	0.393													33	45	---	---	---	---	0	0
ECD	11319	broad.mit.edu	37	10	74916082	74916082	+	Missense_Mutation	SNP	T	T	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:74916082T>G	ENST00000372979.4	-	5	747	c.541A>C	c.(541-543)Ata>Cta	p.I181L	ECD_ENST00000454759.2_Missense_Mutation_p.I181L|ECD_ENST00000430082.2_Missense_Mutation_p.I181L	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	181					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GAAGCAAGTATTTTTTCTGAA	0.403													11	72	---	---	---	---	0	0
DPYSL4	10570	broad.mit.edu	37	10	134016313	134016313	+	Missense_Mutation	SNP	T	T	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr10:134016313T>G	ENST00000338492.4	+	12	1609	c.1445T>G	c.(1444-1446)aTc>aGc	p.I482S	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	482					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TACAAGAGGATCAAAGCTCGC	0.632													22	45	---	---	---	---	0	0
OVCH1	341350	broad.mit.edu	37	12	29649132	29649132	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr12:29649132C>A	ENST00000318184.5	-	3	262	c.263G>T	c.(262-264)tGc>tTc	p.C88F		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	88	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCTGTCCAGGCAGTGTGCTGC	0.463													3	2	---	---	---	---	0	0
FREM2	341640	broad.mit.edu	37	13	39264479	39264479	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr13:39264479C>T	ENST00000280481.7	+	1	3214	c.2998C>T	c.(2998-3000)Cca>Tca	p.P1000S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1000					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAATGGCATTCCAGCAGAGCA	0.438													4	88	---	---	---	---	0	0
TRAV26-1	0	broad.mit.edu	37	14	22592021	22592021	+	RNA	SNP	A	A	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr14:22592021A>G	ENST00000390455.3	+	0	315																											AAGAGCTGCAAACCTGCCTTG	0.458													14	78	---	---	---	---	0	0
PYGL	5836	broad.mit.edu	37	14	51383369	51383369	+	Silent	SNP	G	G	C			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr14:51383369G>C	ENST00000216392.7	-	9	1415	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P	PYGL_ENST00000544180.2_Silent_p.P327P|PYGL_ENST00000532462.1_Silent_p.P361P	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	361					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CCTTGGACCAGGGCAGTTTTT	0.453													11	32	---	---	---	---	0	0
MEIS2	4212	broad.mit.edu	37	15	37388558	37388558	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr15:37388558C>G	ENST00000338564.5	-	4	765	c.319G>C	c.(319-321)Gga>Cga	p.G107R	MEIS2_ENST00000561208.1_Missense_Mutation_p.G107R|MEIS2_ENST00000444725.1_Missense_Mutation_p.G107R|MEIS2_ENST00000397620.2_Missense_Mutation_p.G19R|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000557796.2_Missense_Mutation_p.G94R|MEIS2_ENST00000382766.2_Missense_Mutation_p.G107R|MEIS2_ENST00000397624.3_Missense_Mutation_p.G19R|MEIS2_ENST00000424352.2_Missense_Mutation_p.G107R|MEIS2_ENST00000559085.1_Missense_Mutation_p.G94R|MEIS2_ENST00000559561.1_Missense_Mutation_p.G107R|MEIS2_ENST00000340545.5_Missense_Mutation_p.G94R	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	107					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCAGCCACTCCAGGTTCCCGG	0.612													8	33	---	---	---	---	0	0
DNM1P46	0	broad.mit.edu	37	15	100331760	100331760	+	RNA	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr15:100331760G>A	ENST00000341853.1	-	0	2431					NR_003260.1																						CCCCACAGGAGATAGAGGAGG	0.627													12	21	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7576851	7576851	+	Splice_Site	SNP	A	A	C			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr17:7576851A>C	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(12)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAGACTTAGTACCTGAAGGGT	0.463		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	13	---	---	---	---	0	0
SIN3B	23309	broad.mit.edu	37	19	16962337	16962337	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr19:16962337C>T	ENST00000379803.1	+	6	855	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	SIN3B_ENST00000596802.1_Missense_Mutation_p.P281S|SIN3B_ENST00000248054.5_Missense_Mutation_p.P281S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	281					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGTGTCTGCACCCGCCAAGGT	0.677													13	31	---	---	---	---	0	0
AKT2	208	broad.mit.edu	37	19	40745988	40745988	+	Silent	SNP	G	G	A			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr19:40745988G>A	ENST00000392038.2	-	7	901	c.603C>T	c.(601-603)agC>agT	p.S201S	AKT2_ENST00000311278.6_Silent_p.S201S|AKT2_ENST00000579047.1_Silent_p.S139S|AKT2_ENST00000424901.1_Silent_p.S201S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	201	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGAGGACCCGGCTCTCGGTGA	0.632			A		"""ovarian, pancreatic """								7	169	---	---	---	---	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854346	12854346	+	Silent	SNP	G	G	A	rs141935528		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:12854346G>A	ENST00000332296.7	+	3	673	c.570G>A	c.(568-570)acG>acA	p.T190T		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	190										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTATCTAACGCCGATTAAAT	0.408													9	576	---	---	---	---	0	0
KAZN	23254	broad.mit.edu	37	1	15386729	15386729	+	Silent	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:15386729C>T	ENST00000376030.2	+	6	1272	c.978C>T	c.(976-978)gcC>gcT	p.A326A	KAZN_ENST00000503743.1_Silent_p.A326A|KAZN_ENST00000400798.2_Silent_p.A232A|KAZN_ENST00000361144.5_Silent_p.A320A|KAZN_ENST00000422387.2_Silent_p.A326A|KAZN_ENST00000400797.3_Silent_p.A232A	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	326	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CATCTGCCGCCGAAGGCGACC	0.672													8	102	---	---	---	---	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931510	155931510	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:155931510C>G	ENST00000462460.2	-	15	1799	c.1545G>C	c.(1543-1545)agG>agC	p.R515S	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R469S|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R442S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R442S|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R471S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R470S			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2		PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGAGTTTGCGCCTCAGAAGTT	0.602													23	33	---	---	---	---	0	0
OR10K2	391107	broad.mit.edu	37	1	158390007	158390007	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:158390007G>T	ENST00000314902.2	-	1	649	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GTGAACATAGGACACCAAGAT	0.448													24	39	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158639228	158639228	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:158639228C>G	ENST00000368147.4	-	14	1983	c.1803G>C	c.(1801-1803)aaG>aaC	p.K601N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAACTTTTTCTTCTTGTTGA	0.423													79	140	---	---	---	---	0	0
OR2T10	127069	broad.mit.edu	37	1	248756250	248756250	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:248756250A>G	ENST00000330500.2	-	1	850	c.820T>C	c.(820-822)Tca>Cca	p.S274P		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAAGGATGACATCATATCT	0.428													20	41	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179430936	179430936	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr2:179430936C>A	ENST00000589042.1	-	326	80147	c.79923G>T	c.(79921-79923)aaG>aaT	p.K26641N	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17701N|TTN_ENST00000342175.6_Missense_Mutation_p.K17768N|TTN_ENST00000591111.1_Missense_Mutation_p.K25000N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24073N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17576N|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25000	Fibronectin type-III 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTACTCCCTTTTCAATTT	0.398													4	151	---	---	---	---	0	0
PLCL2	23228	broad.mit.edu	37	3	17051267	17051267	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:17051267G>C	ENST00000418129.2	+	2	516	c.51G>C	c.(49-51)atG>atC	p.M17I	PLCL2_ENST00000432376.1_Missense_Mutation_p.M17I|PLCL2_ENST00000396755.2_Missense_Mutation_p.M17I|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	143	Gly-rich.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTAATTCAATGGTTGAGGGTT	0.423													24	36	---	---	---	---	0	0
KLHL18	23276	broad.mit.edu	37	3	47364056	47364056	+	Splice_Site	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:47364056A>G	ENST00000232766.5	+	3	280		c.e3-1		KLHL18_ENST00000455924.2_Splice_Site	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18											endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCTTTCCTCTAGTGCCCTGGA	0.542													20	22	---	---	---	---	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452642	130452642	+	Silent	SNP	T	T	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:130452642T>C	ENST00000356763.3	-	4	1757	c.1200A>G	c.(1198-1200)gaA>gaG	p.E400E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	400					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GAAGAATCAGTTCCAAAGCAG	0.398													9	98	---	---	---	---	0	0
UBXN7	26043	broad.mit.edu	37	3	196089432	196089432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:196089432C>A	ENST00000296328.4	-	9	1035	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	UBXN7_ENST00000428095.1_Nonsense_Mutation_p.E159*|UBXN7_ENST00000535858.1_Nonsense_Mutation_p.E173*	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	321							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAAAAAAGTTCAGATTCAGAT	0.443													49	84	---	---	---	---	0	0
C4orf51	646603	broad.mit.edu	37	4	146601567	146601567	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:146601567A>T	ENST00000438731.1	+	1	212	c.212A>T	c.(211-213)cAg>cTg	p.Q71L		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	71										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AGAGCAGGACAGCATGAGCCT	0.398													6	33	---	---	---	---	0	0
WDR17	116966	broad.mit.edu	37	4	177032828	177032828	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:177032828G>A	ENST00000393643.2	+	2	349	c.97G>A	c.(97-99)Gcg>Acg	p.A33T	WDR17_ENST00000508596.1_Missense_Mutation_p.A33T|WDR17_ENST00000280190.4_Missense_Mutation_p.A57T|WDR17_ENST00000507824.2_Missense_Mutation_p.A57T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	57										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGCATATTGTGCGACCCTGGC	0.363													23	44	---	---	---	---	0	0
AGA	175	broad.mit.edu	37	4	178352895	178352895	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:178352895A>T	ENST00000264595.2	-	9	1135	c.1008T>A	c.(1006-1008)aaT>aaA	p.N336K		NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGTTGGCTGATTTTTTTCGG	0.368													3	52	---	---	---	---	0	0
GPR98	84059	broad.mit.edu	37	5	90078963	90078963	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr5:90078963C>G	ENST00000405460.2	+	66	13350	c.13254C>G	c.(13252-13254)atC>atG	p.I4418M	GPR98_ENST00000425867.2_Missense_Mutation_p.I79M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4418					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGGCTGATCATGATCCCAG	0.448													63	112	---	---	---	---	0	0
COL10A1	1300	broad.mit.edu	37	6	116442816	116442816	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr6:116442816G>A	ENST00000327673.4	-	2	870	c.463C>T	c.(463-465)Cca>Tca	p.P155S	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P155S			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	155	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTTTTCCTGGCACAGAAATT	0.592													17	16	---	---	---	---	0	0
XPO7	23039	broad.mit.edu	37	8	21833903	21833903	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:21833903C>T	ENST00000434536.1	+	7	763	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Nonsense_Mutation_p.Q213*|XPO7_ENST00000252512.9_Nonsense_Mutation_p.Q212*			Q9UIA9	XPO7_HUMAN	exportin 7	212					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGATGAAAGTCAGCATGGCTT	0.458													5	106	---	---	---	---	0	0
XPO7	23039	broad.mit.edu	37	8	21842352	21842352	+	Splice_Site	SNP	T	T	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:21842352T>A	ENST00000434536.1	+	12	1600		c.e12+2		XPO7_ENST00000433566.4_Splice_Site|XPO7_ENST00000252512.9_Splice_Site			Q9UIA9	XPO7_HUMAN	exportin 7						mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGCAGGAGGGTGAGTGTGCAG	0.567													18	21	---	---	---	---	0	0
NFX1	0	broad.mit.edu	37	9	33313652	33313652	+	Splice_Site	SNP	G	G	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:33313652G>T	ENST00000379540.3	+	7	1511	c.1449G>T	c.(1447-1449)agG>agT	p.R483S	NFX1_ENST00000318524.6_Splice_Site_p.R483S|NFX1_ENST00000379521.4_Splice_Site_p.R483S	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	483					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTCTTTACAGGCACACAGTTC	0.478													32	56	---	---	---	---	0	0
NFX1	0	broad.mit.edu	37	9	33313653	33313653	+	Splice_Site	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:33313653C>T	ENST00000379540.3	+	7	1512	c.1450C>T	c.(1450-1452)Cac>Tac	p.H484Y	NFX1_ENST00000318524.6_Splice_Site_p.H484Y|NFX1_ENST00000379521.4_Splice_Site_p.H484Y	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	484					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCTTTACAGGCACACAGTTCG	0.483													33	57	---	---	---	---	0	0
VCP	7415	broad.mit.edu	37	9	35062992	35062992	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:35062992A>G	ENST00000358901.6	-	7	1689	c.794T>C	c.(793-795)tTc>tCc	p.F265S		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	265					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAAGAAGAAGAAGGCTCCAGT	0.463													29	86	---	---	---	---	0	0
VCP	7415	broad.mit.edu	37	9	35062993	35062993	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:35062993A>C	ENST00000358901.6	-	7	1688	c.793T>G	c.(793-795)Ttc>Gtc	p.F265V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	265					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGAAGAAGAAGGCTCCAGTC	0.468													27	86	---	---	---	---	0	0
LINC00264	0	broad.mit.edu	37	10	26880327	26880327	+	RNA	SNP	T	T	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:26880327T>G	ENST00000412114.1	+	0	562					NR_026793.1																						CCCAAACACATGCTGAAACAT	0.502													12	20	---	---	---	---	0	0
RP11-108K14.8	0	broad.mit.edu	37	10	135215702	135215702	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:135215702C>T	ENST00000468317.2	+	9	893	c.638C>T	c.(637-639)gCt>gTt	p.A213V	MTG1_ENST00000477902.2_Missense_Mutation_p.A167V|MTG1_ENST00000317502.6_Missense_Mutation_p.A208V																							GGCGTGCTGGCTCCTCGGATT	0.687													60	90	---	---	---	---	0	0
SLC17A6	57084	broad.mit.edu	37	11	22380963	22380963	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr11:22380963T>A	ENST00000263160.3	+	4	900	c.463T>A	c.(463-465)Ttc>Atc	p.F155I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	155					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTTCAGGGTTTTCGGAGCTGC	0.358													13	25	---	---	---	---	0	0
ATF7	11016	broad.mit.edu	37	12	53927005	53927005	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr12:53927005G>C	ENST00000420353.2	-	7	748	c.599C>G	c.(598-600)gCt>gGt	p.A200G	RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.A200G|ATF7_ENST00000415113.1_Missense_Mutation_p.A179G|ATF7_ENST00000456903.4_Missense_Mutation_p.A200G|ATF7_ENST00000328463.7_Missense_Mutation_p.A211G|ATF7_ENST00000548446.2_Missense_Mutation_p.A211G	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	211	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						CTGTCCATTAGCAAGATGCAT	0.512													20	31	---	---	---	---	0	0
PCDH17	27253	broad.mit.edu	37	13	58299039	58299039	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr13:58299039G>A	ENST00000377918.3	+	4	3117	c.3091G>A	c.(3091-3093)Gag>Aag	p.E1031K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1031					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCTCCTCCAAGAGGTCCCCTC	0.502													4	87	---	---	---	---	0	0
SNHG14	0	broad.mit.edu	37	15	25465676	25465676	+	RNA	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:25465676A>G	ENST00000424208.1	+	0	3039				SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1																						ATTGTCCTGAAAAGAGGTGAT	0.502													49	109	---	---	---	---	0	0
ZFHX3	463	broad.mit.edu	37	16	72845538	72845538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr16:72845538G>A	ENST00000268489.5	-	7	4474	c.3802C>T	c.(3802-3804)Cag>Tag	p.Q1268*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q354*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1268					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGTGCAGCTGGAGGTGGATC	0.607													12	19	---	---	---	---	0	0
ZNF317	57693	broad.mit.edu	37	19	9270907	9270907	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:9270907C>T	ENST00000247956.6	+	7	891	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	ZNF317_ENST00000360385.3_Missense_Mutation_p.R164C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCCCTATCACCGCCGCGACTA	0.537													9	13	---	---	---	---	0	0
CD48	962	broad.mit.edu	37	1	160651208	160651208	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr1:160651208C>T	ENST00000368046.3	-	3	523	c.436G>A	c.(436-438)Gac>Aac	p.D146N	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	146	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TAACAGTTGTCATCCATGTCT	0.458													21	100	---	---	---	---	0	0
FAM212A	389119	broad.mit.edu	37	3	49842264	49842264	+	Silent	SNP	G	G	A			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr3:49842264G>A	ENST00000333323.4	+	2	841	c.708G>A	c.(706-708)cgG>cgA	p.R236R		NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN	family with sequence similarity 212, member A	234																	TTCGGCGCCGGCTGGCCAGGG	0.667													4	90	---	---	---	---	0	0
PNISR	25957	broad.mit.edu	37	6	99852521	99852521	+	Missense_Mutation	SNP	T	T	G			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr6:99852521T>G	ENST00000369239.5	-	9	1264	c.1060A>C	c.(1060-1062)Att>Ctt	p.I354L	PNISR_ENST00000438806.1_Missense_Mutation_p.I354L	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	354						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ACGTAATAAATTTCTTCATCT	0.343													7	45	---	---	---	---	0	0
METTL4	64863	broad.mit.edu	37	18	2539121	2539121	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7FE-01A-12D-A33T-08	TCGA-KC-A7FE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9eec79fd-cca8-4d92-bda0-c4d392cfa575	d917fdbc-60b4-4913-8359-0ed1fce972f3	g.chr18:2539121G>C	ENST00000319888.6	-	8	2003	c.1205C>G	c.(1204-1206)gCc>gGc	p.A402G	METTL4_ENST00000574538.1_Missense_Mutation_p.P433A			Q8N3J2	METL4_HUMAN	methyltransferase like 4	0					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TCCCCATCTGGCTTGATGTAG	0.343													7	74	---	---	---	---	0	0
TGFBR3	7049	broad.mit.edu	37	1	92195471	92195471	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:92195471C>T	ENST00000212355.4	-	6	1093	c.628G>A	c.(628-630)Gct>Act	p.A210T	TGFBR3_ENST00000370399.2_Missense_Mutation_p.A210T|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Missense_Mutation_p.A210T	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	210					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGTACTCAGCAAGGTAATTG	0.473													53	101	---	---	---	---	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858895	149858895	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:149858895A>G	ENST00000331380.2	+	1	371	c.371A>G	c.(370-372)cAc>cGc	p.H124R		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	124					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACCGAAAGCCACAAAGCCAAA	0.463													5	170	---	---	---	---	0	0
ROBO1	6091	broad.mit.edu	37	3	78987846	78987846	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:78987846C>T	ENST00000436010.2	-	2	1284	c.287G>A	c.(286-288)gGa>gAa	p.G96E	ROBO1_ENST00000467549.1_Missense_Mutation_p.G96E|ROBO1_ENST00000464233.1_Missense_Mutation_p.G135E|ROBO1_ENST00000495273.1_Missense_Mutation_p.G96E			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	135	Ig-like C2-type 1.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTTTTCCGTCCATGTACTAT	0.473													19	26	---	---	---	---	0	0
LEF1	51176	broad.mit.edu	37	4	108999454	108999454	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr4:108999454C>T	ENST00000379951.2	-	7	2034	c.846G>A	c.(844-846)atG>atA	p.M282I	LEF1_ENST00000438313.2_Missense_Mutation_p.M282I|LEF1_ENST00000510624.1_Missense_Mutation_p.M214I|LEF1_ENST00000265165.1_Missense_Mutation_p.M310I|LEF1_ENST00000503879.1_5'UTR	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	310					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCATTTCTTTCATGTATAACA	0.433													195	266	---	---	---	---	0	0
CAMK2D	817	broad.mit.edu	37	4	114469847	114469847	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr4:114469847C>A	ENST00000454265.2	-	6	1238	c.380G>T	c.(379-381)tGt>tTt	p.C127F	CAMK2D_ENST00000508738.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000394522.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000394526.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000296402.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000418639.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000342666.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000514328.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000429180.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000379773.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000515496.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000394524.3_Missense_Mutation_p.C127F			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	127	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ATTTAGGTGACAATGATTAAC	0.378													28	39	---	---	---	---	0	0
DAB2	1601	broad.mit.edu	37	5	39377007	39377007	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:39377007G>A	ENST00000545653.1	-	11	2349	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	DAB2_ENST00000320816.6_Missense_Mutation_p.P628S|DAB2_ENST00000339788.6_Missense_Mutation_p.P410S|DAB2_ENST00000509337.1_Missense_Mutation_p.P607S	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	628					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TCCTTGGGAGGGCCAGCTCTG	0.522											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	182	---	---	---	---	0	0
YTHDC2	64848	broad.mit.edu	37	5	112889507	112889507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:112889507C>T	ENST00000161863.4	+	15	2221	c.2008C>T	c.(2008-2010)Caa>Taa	p.Q670*	YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q670*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	670	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AACATCCGATCAAAAGAAAGT	0.303													19	26	---	---	---	---	0	0
KIF13A	63971	broad.mit.edu	37	6	17777528	17777528	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:17777528T>C	ENST00000378814.5	-	33	4110	c.4111A>G	c.(4111-4113)Agt>Ggt	p.S1371G	KIF13A_ENST00000378826.2_Missense_Mutation_p.S1384G|KIF13A_ENST00000378816.5_Missense_Mutation_p.S1384G|KIF13A_ENST00000259711.6_Missense_Mutation_p.S1384G|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1371G	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1384					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGTGTACTGAGGCTCCTC	0.453													9	17	---	---	---	---	0	0
DEF6	50619	broad.mit.edu	37	6	35285708	35285708	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:35285708T>G	ENST00000316637.5	+	6	853	c.848T>G	c.(847-849)gTg>gGg	p.V283G	DEF6_ENST00000542066.1_Missense_Mutation_p.V28G|DEF6_ENST00000468102.1_3'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	283	PH.					cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ATGTTCTGTGTGAAGACAGCC	0.657													20	26	---	---	---	---	0	0
DNAH8	1769	broad.mit.edu	37	6	38906615	38906615	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:38906615T>C	ENST00000359357.3	+	77	11461	c.11207T>C	c.(11206-11208)aTt>aCt	p.I3736T	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3700T|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3953T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTACAAATATTATCGAGTAC	0.328													24	33	---	---	---	---	0	0
KIAA1244	57221	broad.mit.edu	37	6	138611047	138611047	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:138611047C>G	ENST00000251691.4	+	18	3155	c.2989C>G	c.(2989-2991)Ctc>Gtc	p.L997V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	997					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGAGGCCATCCTCAGCGTAGG	0.602													39	59	---	---	---	---	0	0
UTRN	7402	broad.mit.edu	37	6	144837472	144837472	+	Silent	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:144837472T>C	ENST00000367545.3	+	37	5352	c.5352T>C	c.(5350-5352)aaT>aaC	p.N1784N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1784					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACATAGAAAATATGTTAAAAT	0.353													45	63	---	---	---	---	0	0
RUNX1T1	862	broad.mit.edu	37	8	93004008	93004008	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr8:93004008A>G	ENST00000523629.1	-	7	1304	c.850T>C	c.(850-852)Tac>Cac	p.Y284H	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Y284H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Y295H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Y257H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	284					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTGGGCTGGTAGGATAAGCCG	0.532													41	82	---	---	---	---	0	0
SPATA31D5P	0	broad.mit.edu	37	9	84533044	84533044	+	RNA	SNP	T	T	C	rs530720	by1000genomes	TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr9:84533044T>C	ENST00000527857.1	+	0	3066					NR_026851.1																						TTTTCTGATATTGACCATGAC	0.458													4	50	---	---	---	---	0	0
SEPHS1	22929	broad.mit.edu	37	10	13371763	13371763	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr10:13371763C>T	ENST00000327347.5	-	6	961	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SEPHS1_ENST00000545675.1_Missense_Mutation_p.V196M|SEPHS1_ENST00000537130.1_Missense_Mutation_p.V129M|SEPHS1_ENST00000378614.4_Missense_Mutation_p.V196M	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	196					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AGCACCAGCACGTCCCCTGGC	0.517													8	15	---	---	---	---	0	0
C1S	716	broad.mit.edu	37	12	7172584	7172584	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:7172584A>G	ENST00000406697.1	+	9	1326	c.698A>G	c.(697-699)aAc>aGc	p.N233S	C1S_ENST00000402681.3_Missense_Mutation_p.N66S|C1S_ENST00000360817.5_Missense_Mutation_p.N233S|C1S_ENST00000328916.3_Missense_Mutation_p.N233S			P09871	C1S_HUMAN	complement component 1, s subcomponent	233	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCAGCGGGAAACTGCCTTGAC	0.453													45	88	---	---	---	---	0	0
WSB2	55884	broad.mit.edu	37	12	118472080	118472080	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:118472080C>G	ENST00000315436.3	-	9	1277	c.1136G>C	c.(1135-1137)aGt>aCt	p.S379T	WSB2_ENST00000542304.1_Missense_Mutation_p.S154T|WSB2_ENST00000544233.1_Missense_Mutation_p.S169T|WSB2_ENST00000441406.2_Missense_Mutation_p.S396T|WSB2_ENST00000535496.1_Missense_Mutation_p.S381T	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	379	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTTAGGAAACTTCGAAGGGC	0.458													91	165	---	---	---	---	0	0
TRPC4	7223	broad.mit.edu	37	13	38237623	38237623	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:38237623A>G	ENST00000379705.3	-	6	2475	c.1618T>C	c.(1618-1620)Tat>Cat	p.Y540H	TRPC4_ENST00000447043.1_Missense_Mutation_p.Y540H|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y367H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379673.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y367H|TRPC4_ENST00000379681.3_Missense_Mutation_p.Y540H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	540					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCTTCATAATAGAAGTACAAT	0.348													3	74	---	---	---	---	0	0
NALCN	259232	broad.mit.edu	37	13	101797243	101797243	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:101797243T>G	ENST00000251127.6	-	16	1925	c.1844A>C	c.(1843-1845)aAg>aCg	p.K615T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	615						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCACTTTGCTTTAACTAAAG	0.328													8	250	---	---	---	---	0	0
EDDM3A	10876	broad.mit.edu	37	14	21215868	21215868	+	Silent	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr14:21215868A>G	ENST00000326842.2	+	2	256	c.129A>G	c.(127-129)cgA>cgG	p.R43R		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	43					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTCCAAGTCGAGAATTCAAAG	0.378													44	87	---	---	---	---	0	0
CCPG1	9236	broad.mit.edu	37	15	55651764	55651764	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:55651764T>C	ENST00000310958.6	-	8	2505	c.2207A>G	c.(2206-2208)cAc>cGc	p.H736R	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.H736R|CCPG1_ENST00000425574.3_Missense_Mutation_p.H353R|CCPG1_ENST00000569205.1_Missense_Mutation_p.H736R	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	736					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GGAAAAAGTGTGACCAAAGAA	0.328													23	3	---	---	---	---	0	0
ISLR2	57611	broad.mit.edu	37	15	74425259	74425259	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:74425259C>T	ENST00000361742.3	+	4	933	c.164C>T	c.(163-165)aCg>aTg	p.T55M	ISLR2_ENST00000435464.1_Missense_Mutation_p.T55M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T55M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T55M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T55M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T55M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T55M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	55					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		p.T55M(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						AACGTGACGACGCTTAGTCTG	0.637													70	80	---	---	---	---	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921727	78921727	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:78921727G>A	ENST00000261751.3	-	5	1031	c.920C>T	c.(919-921)aCc>aTc	p.T307I	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	307					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GATGGAGAAGGTGACCAGCAC	0.587													37	55	---	---	---	---	0	0
CCDC135	84229	broad.mit.edu	37	16	57738847	57738847	+	Silent	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr16:57738847C>T	ENST00000360716.3	+	7	980	c.759C>T	c.(757-759)gaC>gaT	p.D253D	CCDC135_ENST00000336825.8_Silent_p.D188D|CCDC135_ENST00000394337.4_Silent_p.D253D			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	253						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCCCCAGGGACCTGTGCAGCA	0.562													28	63	---	---	---	---	0	0
ZZEF1	23140	broad.mit.edu	37	17	3959636	3959636	+	Silent	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:3959636T>C	ENST00000381638.2	-	33	5293	c.5169A>G	c.(5167-5169)caA>caG	p.Q1723Q		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1723							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTTCACTCCATTGGCTGAAAG	0.443													31	48	---	---	---	---	0	0
CDK12	51755	broad.mit.edu	37	17	37681027	37681027	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:37681027T>C	ENST00000447079.4	+	12	3229	c.3196T>C	c.(3196-3198)Tct>Cct	p.S1066P	CDK12_ENST00000430627.2_Missense_Mutation_p.S1066P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1066					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATCCAAAACTTCTCGAAAAGA	0.557			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			71	135	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:47696643A>C	ENST00000393331.3	-	6	775	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)			53	58	---	---	---	---	0	0
HAUS1	115106	broad.mit.edu	37	18	43685267	43685267	+	Silent	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:43685267C>T	ENST00000282058.6	+	2	218	c.138C>T	c.(136-138)gtC>gtT	p.V46V	HAUS1_ENST00000585518.1_Silent_p.V46V	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	46					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCAACAGGGTCCGGGACAGGG	0.433													23	13	---	---	---	---	0	0
SMAD4	4089	broad.mit.edu	37	18	48591888	48591888	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:48591888G>T	ENST00000342988.3	+	9	1589	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y	SMAD4_ENST00000398417.2_Missense_Mutation_p.D351Y|SMAD4_ENST00000588745.1_Missense_Mutation_p.D255Y	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	351	MH2.		D -> N (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.D351H(8)|p.?(2)|p.V350_D351>DN(1)|p.D351N(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTACTGTTGATGGATACGT	0.438													4	62	---	---	---	---	0	0
SMAD4	4089	broad.mit.edu	37	18	48591901	48591901	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:48591901A>T	ENST00000342988.3	+	9	1602	c.1064A>T	c.(1063-1065)gAc>gTc	p.D355V	SMAD4_ENST00000398417.2_Missense_Mutation_p.D355V|SMAD4_ENST00000588745.1_Missense_Mutation_p.D259V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	355	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGATACGTGGACCCTTCTGGA	0.428													37	25	---	---	---	---	0	0
CEACAM16	388551	broad.mit.edu	37	19	45207372	45207372	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:45207372C>G	ENST00000587331.1	+	4	682	c.467C>G	c.(466-468)cCc>cGc	p.P156R	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.P156R	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	156										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TGCAGCAGCCCCAGCCCCACC	0.687													7	16	---	---	---	---	0	0
OPA3	80207	broad.mit.edu	37	19	46032604	46032604	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:46032604C>A	ENST00000323060.3	-	2	330	c.253G>T	c.(253-255)Ggc>Tgc	p.G85C		NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	85					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		ATGCCCTCGCCCAGCAGCTCC	0.627													111	118	---	---	---	---	0	0
KLK3	354	broad.mit.edu	37	19	51359573	51359573	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:51359573G>C	ENST00000360617.3	+	2	124	c.124G>C	c.(124-126)Gtg>Ctg	p.V42L	KLK3_ENST00000597483.1_Missense_Mutation_p.V42L|KLK3_ENST00000326003.2_Missense_Mutation_p.V42L|KLK3_ENST00000593997.1_Missense_Mutation_p.V42L|KLK3_ENST00000595952.1_Missense_Mutation_p.V42L			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	42	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCAGGTGCTTGTGGCCTCTCG	0.642													7	224	---	---	---	---	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686562	3686562	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr20:3686562C>T	ENST00000344754.4	-	3	534	c.535G>A	c.(535-537)Gac>Aac	p.D179N	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D179N	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	179	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGAGCAGGGTCCTGGCCTTGC	0.632													77	117	---	---	---	---	0	0
MMP9	4318	broad.mit.edu	37	20	44639788	44639788	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr20:44639788C>A	ENST00000372330.3	+	5	675	c.656C>A	c.(655-657)cCa>cAa	p.P219Q		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	219					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GCAGTGGTTCCAACTCGGTTT	0.637													176	308	---	---	---	---	0	0
DDX17	10521	broad.mit.edu	37	22	38883946	38883946	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr22:38883946T>C	ENST00000396821.3	-	12	1721	c.1622A>G	c.(1621-1623)aAt>aGt	p.N541S	DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.N464S	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	462					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GATAGCCTGATTGGCCTCTTC	0.547													77	103	---	---	---	---	0	0
CLCNKB	1188	broad.mit.edu	37	1	16376374	16376374	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:16376374A>T	ENST00000375679.4	+	10	1042	c.931A>T	c.(931-933)Agg>Tgg	p.R311W	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R142W	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTTCATCAGGAACAATAG	0.607													38	79	---	---	---	---	0	0
EGFR	1956	broad.mit.edu	37	7	55223567	55223567	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr7:55223567G>T	ENST00000275493.2	+	8	1111	c.934G>T	c.(934-936)Ggg>Tgg	p.G312W	EGFR_ENST00000455089.1_Missense_Mutation_p.G267W|EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000342916.3_Missense_Mutation_p.G312W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	312					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCGAGCCTGTGGGGCCGACAG	0.607		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			65	61	---	---	---	---	0	0
DHTKD1	55526	broad.mit.edu	37	10	12111037	12111037	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr10:12111037C>T	ENST00000263035.4	+	1	67	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	2					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GTGAACATGGCCTCTGCTACT	0.697													11	11	---	---	---	---	0	0
MYOF	26509	broad.mit.edu	37	10	95159250	95159250	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr10:95159250C>T	ENST00000371501.4	-	13	1242	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	MYOF_ENST00000371489.1_Missense_Mutation_p.D374N|MYOF_ENST00000358334.5_Missense_Mutation_p.D374N|MYOF_ENST00000359263.4_Missense_Mutation_p.D374N|MYOF_ENST00000371502.4_Missense_Mutation_p.D374N			Q9NZM1	MYOF_HUMAN	myoferlin	374	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGGCATCATCCACTGGAAGG	0.338													4	8	---	---	---	---	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716879	13716879	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr12:13716879G>A	ENST00000609686.1	-	13	3502	c.3293C>T	c.(3292-3294)tCc>tTc	p.S1098F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCCTGCGGGACTTGGCCGA	0.622													13	38	---	---	---	---	0	0
ALKBH1	8846	broad.mit.edu	37	14	78174327	78174327	+	Silent	SNP	G	G	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr14:78174327G>A	ENST00000216489.3	-	1	36	c.21C>T	c.(19-21)gcC>gcT	p.A7A		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	7					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CAGAGCCCACGGCCGCTGCCA	0.637													23	28	---	---	---	---	0	0
FAN1	22909	broad.mit.edu	37	15	31197979	31197979	+	Silent	SNP	T	T	C			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr15:31197979T>C	ENST00000362065.4	+	2	1404	c.1113T>C	c.(1111-1113)ggT>ggC	p.G371G	FAN1_ENST00000561594.1_Silent_p.G371G|FAN1_ENST00000561607.1_Silent_p.G371G|FAN1_ENST00000565466.1_Silent_p.G371G	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	371					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AAACAACCGGTCATCCTTACT	0.463								Direct reversal of damage					8	86	---	---	---	---	0	0
NTN5	126147	broad.mit.edu	37	19	49167879	49167879	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:49167879C>A	ENST00000270235.4	-	3	872	c.777G>T	c.(775-777)tgG>tgT	p.W259C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	259	Laminin EGF-like 2.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TAGGGTCCCTCCAGAACCCAG	0.667													3	25	---	---	---	---	0	0
CROCCP2	0	broad.mit.edu	37	1	16946393	16946393	+	RNA	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:16946393G>A	ENST00000412962.1	-	0	1126																											TCCTGCTGCAGGGCAGCAATC	0.662													5	37	---	---	---	---	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204236639	204236639	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:204236639A>G	ENST00000272203.3	-	5	560	c.244T>C	c.(244-246)Ttc>Ctc	p.F82L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.F82L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	82	PH.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ACCAGGACGAACCAGCGCTTG	0.587													17	55	---	---	---	---	0	0
OR2T35	403244	broad.mit.edu	37	1	248801912	248801912	+	Silent	SNP	C	C	G	rs146851066	by1000genomes	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:248801912C>G	ENST00000317450.3	-	1	647	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V216V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542													3	20	---	---	---	---	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238668784	238668784	+	Silent	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr2:238668784A>G	ENST00000244815.5	+	9	993	c.753A>G	c.(751-753)caA>caG	p.Q251Q	LRRFIP1_ENST00000308482.9_Silent_p.Q465Q|LRRFIP1_ENST00000289175.6_Silent_p.Q219Q|LRRFIP1_ENST00000392000.4_Silent_p.Q275Q	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	275					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TTGGATACCAAGGTCCTACCA	0.433													20	45	---	---	---	---	0	0
METTL6	131965	broad.mit.edu	37	3	15467811	15467811	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:15467811G>C	ENST00000443029.1	-	2	448	c.208C>G	c.(208-210)Cta>Gta	p.L70V	METTL6_ENST00000383790.3_Missense_Mutation_p.L70V|METTL6_ENST00000450816.2_Missense_Mutation_p.L70V|METTL6_ENST00000383789.5_Missense_Mutation_p.L70V			Q8TCB7	METL6_HUMAN	methyltransferase like 6	70							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CATGATCTTAGCTCCTCAAAC	0.398													9	51	---	---	---	---	0	0
C3orf17	25871	broad.mit.edu	37	3	112732806	112732806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:112732806G>A	ENST00000314400.5	-	3	526	c.335C>T	c.(334-336)tCt>tTt	p.S112F	C3orf17_ENST00000393857.2_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.S112F	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	112						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTACTTGGAAGAAAACAACTC	0.408													84	133	---	---	---	---	0	0
TF	7018	broad.mit.edu	37	3	133465321	133465321	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:133465321G>A	ENST00000402696.3	+	1	522	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	TF_ENST00000264998.3_5'UTR|TFP1_ENST00000460564.1_RNA	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	13					cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGTCTGCGCCGTCCTGGGTGA	0.736													3	25	---	---	---	---	0	0
TFDP2	7029	broad.mit.edu	37	3	141671514	141671514	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:141671514A>T	ENST00000499676.2	-	13	1673	c.1002T>A	c.(1000-1002)gaT>gaA	p.D334E	TFDP2_ENST00000317104.7_Missense_Mutation_p.D318E|TFDP2_ENST00000489671.1_Missense_Mutation_p.D394E|TFDP2_ENST00000397991.4_Missense_Mutation_p.D366E|TFDP2_ENST00000310282.6_Missense_Mutation_p.D334E|TFDP2_ENST00000467072.1_Missense_Mutation_p.D334E|TFDP2_ENST00000495310.1_Missense_Mutation_p.D297E|TFDP2_ENST00000477292.1_Missense_Mutation_p.D258E|TFDP2_ENST00000479040.1_Missense_Mutation_p.D333E|TFDP2_ENST00000486111.1_Missense_Mutation_p.D334E	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	394					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						CCACTTCTGCATCCAAGCATA	0.483													4	53	---	---	---	---	0	0
POU4F2	5458	broad.mit.edu	37	4	147561671	147561671	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr4:147561671C>G	ENST00000281321.3	+	2	1189	c.941C>G	c.(940-942)gCg>gGg	p.A314G		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	314	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AATATGATCGCGCTCAAACCC	0.602													18	71	---	---	---	---	0	0
PCDHGA9	0	broad.mit.edu	37	5	140783165	140783165	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr5:140783165G>T	ENST00000573521.1	+	1	646	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCCTCGGATGGCGGCGA	0.597													10	52	---	---	---	---	0	0
SYNE1	23345	broad.mit.edu	37	6	152646275	152646275	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr6:152646275C>G	ENST00000367255.5	-	81	16202	c.15601G>C	c.(15601-15603)Gac>Cac	p.D5201H	SYNE1_ENST00000341594.5_Missense_Mutation_p.D4894H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5201H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5130H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5201					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCCTGGTCCTGGGCCACA	0.537										HNSCC(10;0.0054)			78	79	---	---	---	---	0	0
EPDR1	54749	broad.mit.edu	37	7	37960746	37960746	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:37960746T>A	ENST00000199448.4	+	1	584	c.205T>A	c.(205-207)Tac>Aac	p.Y69N	EPDR1_ENST00000559325.1_Missense_Mutation_p.Y189N|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_Missense_Mutation_p.Y69N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	69					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCTGCTCTCCTACGACGGGCT	0.706													14	38	---	---	---	---	0	0
TRGC1	0	broad.mit.edu	37	7	38299789	38299789	+	RNA	SNP	A	A	G	rs117590081	by1000genomes	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:38299789A>G	ENST00000443402.2	-	0	420					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					GAGGAGGTACATGTAATATGC	0.423													3	21	---	---	---	---	0	0
CCDC136	64753	broad.mit.edu	37	7	128450335	128450335	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:128450335G>A	ENST00000297788.4	+	12	2310	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	648						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGCTGCGACGTTTCAAAGAG	0.433													8	46	---	---	---	---	0	0
SLC7A2	6542	broad.mit.edu	37	8	17418005	17418005	+	Silent	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:17418005G>A	ENST00000470360.1	+	11	1701	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	SLC7A2_ENST00000004531.10_Silent_p.Q529Q|SLC7A2_ENST00000522656.1_Silent_p.Q489Q|SLC7A2_ENST00000398090.3_Silent_p.Q528Q|SLC7A2_ENST00000494857.1_Silent_p.Q489Q			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	489					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAACACAGCAGTCAGCTTCTC	0.532													59	42	---	---	---	---	0	0
XPO7	23039	broad.mit.edu	37	8	21829421	21829421	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:21829421T>G	ENST00000434536.1	+	5	563	c.461T>G	c.(460-462)aTt>aGt	p.I154S	XPO7_ENST00000433566.4_Missense_Mutation_p.I155S|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Missense_Mutation_p.I154S			Q9UIA9	XPO7_HUMAN	exportin 7	154					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GGTGTCACAATTTTATCTCAG	0.353													42	30	---	---	---	---	0	0
CUL2	8453	broad.mit.edu	37	10	35318439	35318439	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr10:35318439T>G	ENST00000374748.1	-	16	1829	c.1516A>C	c.(1516-1518)Agt>Cgt	p.S506R	CUL2_ENST00000602371.1_Missense_Mutation_p.S449R|CUL2_ENST00000374746.1_Missense_Mutation_p.S506R|CUL2_ENST00000537177.1_Missense_Mutation_p.S525R|CUL2_ENST00000374751.3_Missense_Mutation_p.S506R|CUL2_ENST00000374742.1_Missense_Mutation_p.S506R|CUL2_ENST00000374749.3_Missense_Mutation_p.S506R			Q13617	CUL2_HUMAN	cullin 2	506					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATTTGAAAACTAATTCCCAAA	0.318													8	15	---	---	---	---	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827440	96827440	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr10:96827440T>G	ENST00000371270.3	-	2	271	c.177A>C	c.(175-177)aaA>aaC	p.K59N	CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_Intron	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	59					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GACCATAGACTTTTGAGAACT	0.388													12	16	---	---	---	---	0	0
OR4A15	81328	broad.mit.edu	37	11	55135991	55135991	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:55135991C>A	ENST00000314706.3	+	1	632	c.632C>A	c.(631-633)cCc>cAc	p.P211H		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GATTTGTATCCCTTATTGAAA	0.413													16	85	---	---	---	---	0	0
OR5D13	390142	broad.mit.edu	37	11	55541087	55541087	+	Silent	SNP	T	T	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:55541087T>C	ENST00000361760.1	+	1	174	c.174T>C	c.(172-174)caT>caC	p.H58H		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CAAAACTCCATACAATCATGT	0.403													5	92	---	---	---	---	0	0
SYT7	9066	broad.mit.edu	37	11	61323611	61323611	+	Missense_Mutation	SNP	G	G	C	rs144496851	by1000genomes	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:61323611G>C	ENST00000263846.4	-	2	427	c.100C>G	c.(100-102)Ctc>Gtc	p.L34V	SYT7_ENST00000542836.1_Missense_Mutation_p.L34V|SYT7_ENST00000540677.1_Missense_Mutation_p.L34V|SYT7_ENST00000542670.1_Missense_Mutation_p.L34V|SYT7_ENST00000539008.1_Missense_Mutation_p.L34V|SYT7_ENST00000535826.1_Missense_Mutation_p.L34V	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	34						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGCCGCAGAGGACGACAGTG	0.662													13	23	---	---	---	---	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27835611	27835611	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:27835611G>T	ENST00000318304.8	+	23	2523	c.2240G>T	c.(2239-2241)gGt>gTt	p.G747V	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G716V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G594V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G741V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	747	SAM 2.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CGGGTTGATGGTCGAATGCTA	0.448													35	77	---	---	---	---	0	0
SYT10	341359	broad.mit.edu	37	12	33579131	33579131	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:33579131G>A	ENST00000228567.3	-	2	747	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	151						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTAATTAAATGTTCTTTTAAA	0.403													64	68	---	---	---	---	0	0
WIF1	11197	broad.mit.edu	37	12	65461496	65461496	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:65461496G>T	ENST00000286574.4	-	5	987	c.613C>A	c.(613-615)Cac>Aac	p.H205N		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	205	EGF-like 1.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGAGGTCCGTGGAACCCATCA	0.507			T	HMGA2	pleomorphic salivary gland adenoma								5	23	---	---	---	---	0	0
FAM216A	29902	broad.mit.edu	37	12	110924408	110924408	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:110924408C>T	ENST00000377673.5	+	5	1018	c.506C>T	c.(505-507)aCa>aTa	p.T169I		NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN	family with sequence similarity 216, member A	169																	CCTTGCACTACATGGCGACAT	0.507													66	93	---	---	---	---	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748102	19748102	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:19748102G>T	ENST00000400113.3	-	5	1358	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	418					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGGCCTCAGAGAACTCCCCCT	0.587													16	211	---	---	---	---	0	0
PIBF1	10464	broad.mit.edu	37	13	73396007	73396007	+	Silent	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:73396007A>G	ENST00000326291.6	+	6	1031	c.693A>G	c.(691-693)aaA>aaG	p.K231K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	231						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAGATCGAAAAAACTACTCTG	0.348													11	7	---	---	---	---	0	0
DACT1	51339	broad.mit.edu	37	14	59112126	59112126	+	Translation_Start_Site	SNP	A	A	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr14:59112126A>T	ENST00000541264.2	+	0	755				DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000556859.1_De_novo_Start_OutOfFrame|DACT1_ENST00000335867.4_Missense_Mutation_p.N262I|DACT1_ENST00000395153.3_Missense_Mutation_p.N225I			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1						multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTGTCTAAAAACGGGAATGAT	0.493													9	66	---	---	---	---	0	0
MTA1	9112	broad.mit.edu	37	14	105936451	105936451	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr14:105936451C>T	ENST00000331320.7	+	21	2261	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	MTA1_ENST00000435036.2_Missense_Mutation_p.R223W|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000406191.1_Missense_Mutation_p.R671W|MTA1_ENST00000405646.1_Missense_Mutation_p.R666W	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	683					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TGCTGCCCGCCGGCCCTACAA	0.701													5	106	---	---	---	---	0	0
SLC24A5	283652	broad.mit.edu	37	15	48431347	48431347	+	Silent	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr15:48431347C>A	ENST00000341459.3	+	7	1126	c.1053C>A	c.(1051-1053)atC>atA	p.I351I	SLC24A5_ENST00000449382.2_Silent_p.I291I	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	351					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TTACATATATCCTGGTTTGGA	0.303													17	13	---	---	---	---	0	0
ITGAM	3684	broad.mit.edu	37	16	31277424	31277424	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:31277424C>T	ENST00000544665.3	+	5	454	c.383C>T	c.(382-384)tCc>tTc	p.S128F	ITGAM_ENST00000287497.8_Missense_Mutation_p.S128F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	128					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGTTTGGATCCAACCTACGG	0.612													17	46	---	---	---	---	0	0
SLC7A5	8140	broad.mit.edu	37	16	87872329	87872329	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:87872329G>A	ENST00000261622.4	-	6	1099	c.1034C>T	c.(1033-1035)aCa>aTa	p.T345I	SLC7A5_ENST00000565644.1_Missense_Mutation_p.T79I	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	345					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CCTGGAGGATGTGAACAGGGA	0.587													19	64	---	---	---	---	0	0
KRT16	3868	broad.mit.edu	37	17	39767667	39767667	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:39767667C>G	ENST00000301653.4	-	3	765	c.701G>C	c.(700-702)aGg>aCg	p.R234T		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	234	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CAGGTCAGTCCTGGCCAGGGT	0.632													44	68	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:47696425A>C	ENST00000393331.3	-	7	868	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)			48	84	---	---	---	---	0	0
KIF19	124602	broad.mit.edu	37	17	72340364	72340364	+	Silent	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:72340364C>A	ENST00000389916.4	+	6	597	c.459C>A	c.(457-459)atC>atA	p.I153I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	153	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCCGTCAGATCTACAATGAGA	0.627													32	39	---	---	---	---	0	0
KDSR	2531	broad.mit.edu	37	18	61030014	61030014	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr18:61030014C>T	ENST00000406396.3	-	2	587	c.196G>A	c.(196-198)Gag>Aag	p.E66K	KDSR_ENST00000326575.5_Missense_Mutation_p.E66K	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	66					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AGCCTTACCTCATTTCGTGCA	0.413													18	24	---	---	---	---	0	0
CAPN12	147968	broad.mit.edu	37	19	39233710	39233710	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:39233710T>A	ENST00000328867.4	-	2	578	c.270A>T	c.(268-270)gaA>gaT	p.E90D	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	90	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCTCATGTCTTCACAGATGA	0.572													9	68	---	---	---	---	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47588909	47588909	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr20:47588909G>T	ENST00000371917.4	+	11	1472	c.1472G>T	c.(1471-1473)aGt>aTt	p.S491I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	491					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACATCAACAAGTTCTTTTGAG	0.413													12	22	---	---	---	---	0	0
RTDR1	27156	broad.mit.edu	37	22	23401783	23401783	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr22:23401783C>A	ENST00000216036.4	-	7	1100	c.904G>T	c.(904-906)Gcc>Tcc	p.A302S		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	302							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCCTCGGGGGCCTCTGCCAGC	0.642													32	136	---	---	---	---	0	0
MAP7D2	256714	broad.mit.edu	37	X	20060693	20060693	+	Missense_Mutation	SNP	A	A	G	rs140590662	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chrX:20060693A>G	ENST00000379651.3	-	7	829	c.811T>C	c.(811-813)Ttc>Ctc	p.F271L	MAP7D2_ENST00000452324.3_Missense_Mutation_p.F219L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.F156L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.F312L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.F226L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	271										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGGACCCGAAGTTCACAACA	0.512													6	132	---	---	---	---	0	0
CSMD2	114784	broad.mit.edu	37	1	34003036	34003036	+	Splice_Site	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:34003036C>T	ENST00000373381.4	-	61	9981	c.9805G>A	c.(9805-9807)Gat>Aat	p.D3269N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3247						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACCTCTCACCTATGCAGCTG	0.582													5	152	---	---	---	---	0	0
COL9A2	1298	broad.mit.edu	37	1	40776809	40776809	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:40776809C>A	ENST00000372748.3	-	12	682	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	196	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCGCGTTTGCCCGCATGCCCC	0.617													14	58	---	---	---	---	0	0
PIK3R3	8503	broad.mit.edu	37	1	46527681	46527681	+	Silent	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:46527681C>T	ENST00000262741.5	-	6	1373	c.684G>A	c.(682-684)gaG>gaA	p.E228E	PIK3R3_ENST00000354242.4_Silent_p.E228E|PIK3R3_ENST00000372006.1_Silent_p.E228E|PIK3R3_ENST00000540385.1_Silent_p.E274E|PIK3R3_ENST00000423209.1_Silent_p.E228E|PIK3R3_ENST00000340332.6_Silent_p.E192E|PIK3R3_ENST00000420542.1_Silent_p.E228E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	228					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TGTGACACTGCTCTTCAAATA	0.358													17	123	---	---	---	---	0	0
STIL	6491	broad.mit.edu	37	1	47755173	47755173	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:47755173A>T	ENST00000360380.3	-	10	1320	c.957T>A	c.(955-957)tgT>tgA	p.C319*	STIL_ENST00000371877.3_Nonsense_Mutation_p.C319*|STIL_ENST00000396221.2_Nonsense_Mutation_p.C319*|STIL_ENST00000337817.5_Nonsense_Mutation_p.C319*|STIL_ENST00000243182.6_Nonsense_Mutation_p.C319*	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	319					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTGCCATCACAAGGGAAGC	0.353													9	32	---	---	---	---	0	0
FCRL4	83417	broad.mit.edu	37	1	157559034	157559034	+	Silent	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:157559034G>A	ENST00000271532.1	-	3	402	c.267C>T	c.(265-267)ggC>ggT	p.G89G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	89	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.G89G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCGTGGGGAGCCCCGGGCCT	0.498													5	81	---	---	---	---	0	0
ITSN2	50618	broad.mit.edu	37	2	24432816	24432816	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr2:24432816C>A	ENST00000355123.4	-	35	4787	c.4344G>T	c.(4342-4344)aaG>aaT	p.K1448N	ITSN2_ENST00000361999.3_Missense_Mutation_p.K1421N	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1448	PH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGCAGTTCCTTGTTGCTCT	0.453													4	192	---	---	---	---	0	0
CTNNB1	1499	broad.mit.edu	37	3	41268787	41268787	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:41268787G>A	ENST00000349496.5	+	7	1305	c.1025G>A	c.(1024-1026)aGa>aAa	p.R342K	CTNNB1_ENST00000396183.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R342K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R335K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	342					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACCACAAGCAGAGTGCTGAAG	0.408		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				9	70	---	---	---	---	0	0
SFMBT1	51460	broad.mit.edu	37	3	52939178	52939178	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:52939178C>T	ENST00000394752.3	-	21	2957	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T	SFMBT1_ENST00000296295.6_Missense_Mutation_p.A816T|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A859T|SFMBT1_ENST00000394750.1_Missense_Mutation_p.A859T	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	859	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCATAAAAAGCAAACTTGATC	0.453													11	52	---	---	---	---	0	0
GPR87	0	broad.mit.edu	37	3	151012973	151012973	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:151012973G>T	ENST00000260843.4	-	3	525	c.61C>A	c.(61-63)Cac>Aac	p.H21N	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	21						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGAATTGTGACTCTCTTGG	0.488													15	64	---	---	---	---	0	0
FGFRL1	53834	broad.mit.edu	37	4	1016153	1016153	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr4:1016153C>T	ENST00000398484.2	+	4	822	c.242C>T	c.(241-243)cCg>cTg	p.P81L	FGFRL1_ENST00000510644.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.P81L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	81	Ig-like C2-type 1.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCGTGCTGCCGCAGGGGCTG	0.687													7	22	---	---	---	---	0	0
PCDHB12	0	broad.mit.edu	37	5	140589806	140589806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr5:140589806G>A	ENST00000239450.2	+	1	1516	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D106N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		443	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTCTCCGACGTCAATGA	0.602													15	123	---	---	---	---	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773472	35773472	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:35773472G>A	ENST00000360215.1	+	1	402	c.25G>A	c.(25-27)Gag>Aag	p.E9K	LHFPL5_ENST00000373853.1_Missense_Mutation_p.E9K	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	9						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GCCGGCCCAGGAGGCAGCCAA	0.612													13	75	---	---	---	---	0	0
MOCS1	4337	broad.mit.edu	37	6	39877613	39877613	+	Silent	SNP	C	C	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:39877613C>A	ENST00000373186.4	-	8	1205	c.1068G>T	c.(1066-1068)ggG>ggT	p.G356G	MOCS1_ENST00000425303.2_Silent_p.G356G|MOCS1_ENST00000373175.4_Silent_p.G327G|MOCS1_ENST00000340692.5_Silent_p.G356G|MOCS1_ENST00000308559.7_Silent_p.G356G|MOCS1_ENST00000373188.2_Silent_p.G356G|MOCS1_ENST00000373195.3_Silent_p.G269G|MOCS1_ENST00000432280.2_Silent_p.G327G	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	356	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCACAGCAGCCCCAATGATTC	0.617													30	108	---	---	---	---	0	0
CSMD1	64478	broad.mit.edu	37	8	2832109	2832109	+	Silent	SNP	G	G	A			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:2832109G>A	ENST00000520002.1	-	57	9162	c.8607C>T	c.(8605-8607)gcC>gcT	p.A2869A	CSMD1_ENST00000537824.1_Silent_p.A2868A|CSMD1_ENST00000400186.3_Silent_p.A2811A|CSMD1_ENST00000602723.1_Silent_p.A2811A|CSMD1_ENST00000542608.1_Silent_p.A2810A|CSMD1_ENST00000602557.1_Silent_p.A2869A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2869	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGTGAGGACGGCGTTGGCAG	0.507													3	15	---	---	---	---	0	0
ZNF623	9831	broad.mit.edu	37	8	144732272	144732272	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:144732272G>T	ENST00000501748.2	+	1	319	c.230G>T	c.(229-231)gGc>gTc	p.G77V	ZNF623_ENST00000526926.1_Missense_Mutation_p.G37V|ZNF623_ENST00000458270.2_Missense_Mutation_p.G37V	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGACAGGGGCTGCAAGCAG	0.547													33	73	---	---	---	---	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19436440	19436440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:19436440C>T	ENST00000538714.1	+	11	1526	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.Q266*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.Q514*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	508							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CGAATGGCAGCAGCGTCAGTT	0.478													26	93	---	---	---	---	0	0
FLT3	2322	broad.mit.edu	37	13	28608023	28608023	+	Splice_Site	SNP	C	C	G			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr13:28608023C>G	ENST00000380982.4	-	15	2024		c.e15+1		FLT3_ENST00000537084.1_Splice_Site|FLT3_ENST00000241453.7_Splice_Site			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTATACTGTACCTTTCAGCAT	0.433			"""Mis, O"""		"""AML, ALL"""								31	101	---	---	---	---	0	0
PRKD1	5587	broad.mit.edu	37	14	30068924	30068924	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr14:30068924T>C	ENST00000331968.5	-	14	2234	c.2005A>G	c.(2005-2007)Atg>Gtg	p.M669V	PRKD1_ENST00000415220.2_Missense_Mutation_p.M677V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	669	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACAAGATCATTTCCAGCATG	0.378													5	76	---	---	---	---	0	0
DUOX2	50506	broad.mit.edu	37	15	45399594	45399594	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:45399594T>C	ENST00000389039.6	-	14	2027	c.1642A>G	c.(1642-1644)Atc>Gtc	p.I548V	DUOX2_ENST00000603300.1_Missense_Mutation_p.I548V			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	548	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCAATGTTGATAACAGCGACC	0.522													34	100	---	---	---	---	0	0
TRIP4	9325	broad.mit.edu	37	15	64706363	64706363	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:64706363C>T	ENST00000261884.3	+	8	1183	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	375					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTCTGAAGAGCCTTTGGGAGT	0.448													8	67	---	---	---	---	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187829	42187829	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr19:42187829T>C	ENST00000006724.3	-	3	794	c.593A>G	c.(592-594)aAc>aGc	p.N198S	CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N198S|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	198	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GAGGGTCCTGTTGTCAGTGGA	0.527													15	144	---	---	---	---	0	0
DPRX	503834	broad.mit.edu	37	19	54137875	54137875	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr19:54137875A>G	ENST00000376650.1	+	2	170	c.119A>G	c.(118-120)tAc>tGc	p.Y40C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	40						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GAGAACCCATACCCAAACCCC	0.443													15	90	---	---	---	---	0	0
MCM5	4174	broad.mit.edu	37	22	35811928	35811928	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr22:35811928C>T	ENST00000216122.4	+	10	1464	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	MCM5_ENST00000382011.5_Missense_Mutation_p.A394V|MCM5_ENST00000465557.1_3'UTR	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	437	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGTCCTGGCCGATGGTGGG	0.577													5	380	---	---	---	---	0	0
APOBEC4	403314	broad.mit.edu	37	1	183617689	183617689	+	Silent	SNP	A	A	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:183617689A>T	ENST00000308641.4	-	2	499	c.228T>A	c.(226-228)ggT>ggA	p.G76G	RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	76					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GCACCAGGCTACCAGAAGAAG	0.388													5	41	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	186064439	186064439	+	Silent	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:186064439C>T	ENST00000271588.4	+	68	10588	c.10359C>T	c.(10357-10359)acC>acT	p.T3453T	HMCN1_ENST00000367492.2_Silent_p.T3453T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3453	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAGTTCCACCTCTATGGCAT	0.493													9	38	---	---	---	---	0	0
PUM2	23369	broad.mit.edu	37	2	20463106	20463106	+	Silent	SNP	A	A	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:20463106A>C	ENST00000361078.2	-	13	2095	c.2073T>G	c.(2071-2073)ccT>ccG	p.P691P	PUM2_ENST00000403432.1_Silent_p.P691P|PUM2_ENST00000536417.1_Silent_p.P635P|PUM2_ENST00000338086.5_Silent_p.P691P|PUM2_ENST00000319801.5_Silent_p.P612P			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	691					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGGGAAGGAGGAAAGAGCT	0.463													15	30	---	---	---	---	0	0
TMEM87B	84910	broad.mit.edu	37	2	112813329	112813329	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:112813329A>G	ENST00000283206.4	+	1	530	c.161A>G	c.(160-162)aAc>aGc	p.N54S		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	54						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GAGACAGTCAACGACGTAAGT	0.711													11	23	---	---	---	---	0	0
ASB1	51665	broad.mit.edu	37	2	239353281	239353281	+	Silent	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:239353281C>T	ENST00000264607.4	+	4	1040	c.793C>T	c.(793-795)Cta>Tta	p.L265L	ASB1_ENST00000409297.1_Silent_p.L164L	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	265					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CAACCTGAATCTAGTGAAGTG	0.562													24	49	---	---	---	---	0	0
ATP13A5	344905	broad.mit.edu	37	3	193002807	193002807	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr3:193002807C>A	ENST00000342358.4	-	27	3239	c.3122G>T	c.(3121-3123)aGt>aTt	p.S1041I	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1041					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGTCTCAAAACTTAAAATTGA	0.393													13	31	---	---	---	---	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142264887	142264887	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:142264887G>C	ENST00000378004.3	+	5	764	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E137Q	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	137					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTATGACAAAGAGACAGAAAA	0.358													13	42	---	---	---	---	0	0
FAM71B	153745	broad.mit.edu	37	5	156590271	156590271	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:156590271G>T	ENST00000302938.4	-	2	1100	c.1005C>A	c.(1003-1005)aaC>aaA	p.N335K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	335						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGATATGTTGGCAGCAC	0.567													28	69	---	---	---	---	0	0
CPED1	79974	broad.mit.edu	37	7	120768459	120768459	+	Silent	SNP	A	A	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr7:120768459A>C	ENST00000310396.5	+	11	1793	c.1326A>C	c.(1324-1326)ctA>ctC	p.L442L	CPED1_ENST00000423795.1_Silent_p.L222L|CPED1_ENST00000450913.2_Silent_p.L442L	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AAAAGGAACTAAATCAGTGTC	0.358													13	29	---	---	---	---	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725366	26725366	+	Silent	SNP	T	T	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:26725366T>C	ENST00000396005.3	-	5	963	c.654A>G	c.(652-654)acA>acG	p.T218T	SLC5A12_ENST00000280467.6_Silent_p.T218T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	218					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GAGATCCATTTGTTGATTGCT	0.358													40	73	---	---	---	---	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702905	60702905	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:60702905C>A	ENST00000005286.4	+	10	2174	c.2021C>A	c.(2020-2022)gCc>gAc	p.A674D	TMEM132A_ENST00000453848.2_Missense_Mutation_p.A673D	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	673	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCCTTCCCGCCCCAAAGCAG	0.642													3	5	---	---	---	---	0	0
BICD1	636	broad.mit.edu	37	12	32369195	32369195	+	Silent	SNP	C	C	G			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:32369195C>G	ENST00000548411.1	+	2	409	c.228C>G	c.(226-228)tcC>tcG	p.S76S	BICD1_ENST00000281474.5_Silent_p.S76S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	76					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTGGGCAGTCCTTCTCCATCC	0.463													4	54	---	---	---	---	0	0
BICD1	636	broad.mit.edu	37	12	32369197	32369197	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:32369197T>C	ENST00000548411.1	+	2	411	c.230T>C	c.(229-231)tTc>tCc	p.F77S	BICD1_ENST00000281474.5_Missense_Mutation_p.F77S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	77					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGGCAGTCCTTCTCCATCCAC	0.463													4	54	---	---	---	---	0	0
RFC3	5983	broad.mit.edu	37	13	34392356	34392356	+	Missense_Mutation	SNP	G	G	A	rs140507898		TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr13:34392356G>A	ENST00000380071.3	+	1	171	c.41G>A	c.(40-42)gGa>gAa	p.G14E	RFC3_ENST00000434425.1_Missense_Mutation_p.G14E	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	14					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TGCTCCTTGGGACGGCTGGAC	0.701													10	37	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:47696426A>T	ENST00000393331.3	-	7	867	c.397T>A	c.(397-399)Ttc>Atc	p.F133I	SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000504102.1_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I|SPOP_ENST00000393328.2_Missense_Mutation_p.F133I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			31	79	---	---	---	---	0	0
ZNF841	284371	broad.mit.edu	37	19	52580282	52580282	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr19:52580282C>T	ENST00000389534.4	-	5	530	c.71G>A	c.(70-72)tGc>tAc	p.C24Y	ZNF841_ENST00000426391.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.C24Y	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGGGTCCAGGCATTTCCACTC	0.468													15	41	---	---	---	---	0	0
MKL1	57591	broad.mit.edu	37	22	40816928	40816928	+	Silent	SNP	G	G	C			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:40816928G>C	ENST00000396617.3	-	10	1394	c.804C>G	c.(802-804)ctC>ctG	p.L268L	MKL1_ENST00000407029.1_Silent_p.L268L|MKL1_ENST00000355630.3_Silent_p.L268L|MKL1_ENST00000402042.1_Silent_p.L218L	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	268	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGGAGGAAGAGCTGCTGCT	0.627			T	RBM15	acute megakaryocytic leukemia								16	36	---	---	---	---	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533298	47533298	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:47533298T>C	ENST00000334194.3	+	1	139	c.136T>C	c.(136-138)Ttt>Ctt	p.F46L		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	46						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTGCACCTGTTTCCTGCACC	0.498													31	43	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158655065	158655065	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:158655065T>A	ENST00000368147.4	-	2	277	c.97A>T	c.(97-99)Act>Tct	p.T33S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGATACCGAGTCAACACTTCC	0.478													40	81	---	---	---	---	0	0
GCC2	9648	broad.mit.edu	37	2	109106455	109106455	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:109106455C>T	ENST00000309863.6	+	18	4928	c.4214C>T	c.(4213-4215)gCg>gTg	p.A1405V		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1405					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCCAAAGAGGCGGAACTCCGG	0.398													10	20	---	---	---	---	0	0
DNER	92737	broad.mit.edu	37	2	230271991	230271991	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:230271991G>T	ENST00000341772.4	-	10	1814	c.1680C>A	c.(1678-1680)agC>agA	p.S560R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	560	EGF-like 9.|Follistatin-like.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.S560S(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCAGGCCGTCGCTGTCACAGG	0.512													6	121	---	---	---	---	0	0
NBEAL2	23218	broad.mit.edu	37	3	47038461	47038461	+	Silent	SNP	C	C	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:47038461C>A	ENST00000450053.3	+	18	2753	c.2574C>A	c.(2572-2574)atC>atA	p.I858I	NBEAL2_ENST00000292309.5_Silent_p.I858I|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	858							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGAACAACATCTGCCTGGACC	0.622													8	27	---	---	---	---	0	0
PARP9	83666	broad.mit.edu	37	3	122274491	122274491	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:122274491C>T	ENST00000462315.1	-	4	820	c.527G>A	c.(526-528)gGa>gAa	p.G176E	PARP9_ENST00000477522.2_Missense_Mutation_p.G176E|PARP9_ENST00000471785.1_Missense_Mutation_p.G176E|PARP9_ENST00000360356.2_Missense_Mutation_p.G211E|PARP9_ENST00000492382.1_Intron	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	211	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTGCAGCTTTCCAGTACATCC	0.463													7	35	---	---	---	---	0	0
RGMB	285704	broad.mit.edu	37	5	98115306	98115306	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:98115306A>C	ENST00000308234.7	+	4	684	c.282A>C	c.(280-282)caA>caC	p.Q94H	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Missense_Mutation_p.Q53H	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	53					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AGCCAGCCCAATGTCGAATCC	0.468													88	108	---	---	---	---	0	0
PCDHGB7	0	broad.mit.edu	37	5	140799248	140799248	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:140799248G>A	ENST00000398594.2	+	1	1822	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTACCACGTGGTGCAGGC	0.687													4	105	---	---	---	---	0	0
PCDH12	51294	broad.mit.edu	37	5	141336228	141336228	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:141336228G>C	ENST00000231484.3	-	1	2399	c.1189C>G	c.(1189-1191)Ctg>Gtg	p.L397V		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	397	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGGCCCAGCTCTTGGCTC	0.488													5	96	---	---	---	---	0	0
TEX15	56154	broad.mit.edu	37	8	30701886	30701886	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr8:30701886C>T	ENST00000256246.2	-	1	4722	c.4648G>A	c.(4648-4650)Gac>Aac	p.D1550N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1550										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GACTGCGAGTCTTTACTAACT	0.388													38	70	---	---	---	---	0	0
A1CF	29974	broad.mit.edu	37	10	52596043	52596043	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:52596043C>T	ENST00000374001.2	-	5	534	c.395G>A	c.(394-396)aGt>aAt	p.S132N	A1CF_ENST00000282641.2_Missense_Mutation_p.S132N|A1CF_ENST00000373995.3_Missense_Mutation_p.S140N|A1CF_ENST00000395489.2_Missense_Mutation_p.S125N|A1CF_ENST00000395495.1_Missense_Mutation_p.S132N|A1CF_ENST00000373997.3_Missense_Mutation_p.S132N|A1CF_ENST00000373993.1_Missense_Mutation_p.S132N			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor		RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTTGTCCACACTGGCACAAAC	0.433													31	39	---	---	---	---	0	0
CCDC70	83446	broad.mit.edu	37	13	52439722	52439722	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:52439722T>C	ENST00000242819.4	+	2	504	c.208T>C	c.(208-210)Tgg>Cgg	p.W70R		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	70						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGAAGAGATGTGGACTTTCCG	0.468													32	52	---	---	---	---	0	0
STK24	8428	broad.mit.edu	37	13	99127163	99127163	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:99127163G>T	ENST00000397517.2	-	5	585	c.509C>A	c.(508-510)aCa>aAa	p.T170K	STK24_ENST00000539966.1_Missense_Mutation_p.T151K|STK24_ENST00000376547.3_Missense_Mutation_p.T182K	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	182	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTGGGTGTCTGTCAGCTGGCC	0.612													13	33	---	---	---	---	0	0
CTSG	1511	broad.mit.edu	37	14	25043658	25043658	+	Silent	SNP	C	C	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr14:25043658C>A	ENST00000216336.2	-	4	423	c.387G>T	c.(385-387)ctG>ctT	p.L129L		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	129	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GGGCTCTAGGCAGAGCCACTG	0.627													21	107	---	---	---	---	0	0
SCG3	29106	broad.mit.edu	37	15	51975311	51975311	+	Silent	SNP	A	A	G			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr15:51975311A>G	ENST00000220478.3	+	3	574	c.171A>G	c.(169-171)acA>acG	p.T57T	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	57					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTAAAAAAACATATCCTCCAG	0.343													39	42	---	---	---	---	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234801	44234801	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr22:44234801T>A	ENST00000330884.4	-	4	574	c.454A>T	c.(454-456)Atg>Ttg	p.M152L	SULT4A1_ENST00000249130.5_Missense_Mutation_p.M152L|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	152					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGGTAGCTCATGGTCCGCAGA	0.532													25	48	---	---	---	---	0	0
DOCK11	139818	broad.mit.edu	37	X	117775256	117775256	+	Silent	SNP	T	T	C	rs137900857		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chrX:117775256T>C	ENST00000276204.6	+	39	4322	c.4248T>C	c.(4246-4248)acT>acC	p.T1416T	DOCK11_ENST00000276202.7_Silent_p.T1416T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1416					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CATTTTTCACTCAGTGCTTCA	0.383													18	22	---	---	---	---	0	0
RRNAD1	51093	broad.mit.edu	37	1	156704062	156704062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr1:156704062C>T	ENST00000368216.4	+	6	1528	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	300						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCCACTGAGTCAGTGGGTGGC	0.627													8	43	---	---	---	---	0	0
COL6A6	131873	broad.mit.edu	37	3	130289977	130289977	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr3:130289977G>A	ENST00000358511.6	+	6	2748	c.2717G>A	c.(2716-2718)cGc>cAc	p.R906H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R906H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	906	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGGGCAGCCGCCTGAACAAG	0.547													5	18	---	---	---	---	0	0
PCDHB15	0	broad.mit.edu	37	5	140627360	140627360	+	Silent	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr5:140627360C>T	ENST00000231173.3	+	1	2214	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGCGGCA	0.602													5	180	---	---	---	---	0	0
MIOS	54468	broad.mit.edu	37	7	7613322	7613322	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr7:7613322A>G	ENST00000340080.4	+	4	1637	c.1216A>G	c.(1216-1218)Aca>Gca	p.T406A	MIOS_ENST00000405785.1_Missense_Mutation_p.T406A	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	406										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGACTTGATACAGAGCAGGT	0.373													5	81	---	---	---	---	0	0
RP1	6101	broad.mit.edu	37	8	55538088	55538088	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:55538088T>C	ENST00000220676.1	+	4	1794	c.1646T>C	c.(1645-1647)gTt>gCt	p.V549A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	549					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTGCTGGTGTTATAGAAATT	0.333													19	33	---	---	---	---	0	0
RALYL	138046	broad.mit.edu	37	8	85441793	85441793	+	Silent	SNP	C	C	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:85441793C>G	ENST00000521268.1	+	2	1342	c.237C>G	c.(235-237)gtC>gtG	p.V79V	RALYL_ENST00000518566.1_Silent_p.V79V|RALYL_ENST00000517638.1_Silent_p.V92V|RALYL_ENST00000521695.1_Silent_p.V79V|RALYL_ENST00000522455.1_Silent_p.V79V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	79	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ATGCCAGAGTCATCGCCGGCC	0.428													3	39	---	---	---	---	0	0
RCL1	10171	broad.mit.edu	37	9	4834198	4834198	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr9:4834198G>A	ENST00000381750.4	+	5	740	c.517G>A	c.(517-519)Gtg>Atg	p.V173M		NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	173					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CTCATGTCCTGTGAGGAAGGT	0.463													17	18	---	---	---	---	0	0
DCHS1	8642	broad.mit.edu	37	11	6649894	6649894	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:6649894G>C	ENST00000299441.3	-	13	5740	c.5329C>G	c.(5329-5331)Cca>Gca	p.P1777A		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1777	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACATCTGGATCAGAGGCC	0.567													23	42	---	---	---	---	0	0
TENM4	26011	broad.mit.edu	37	11	78381219	78381219	+	Silent	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:78381219G>A	ENST00000278550.7	-	32	6633	c.6171C>T	c.(6169-6171)taC>taT	p.Y2057Y		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CAATCTGACGGTAGCGGATGG	0.532													3	32	---	---	---	---	0	0
KDM4E	390245	broad.mit.edu	37	11	94759491	94759491	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:94759491C>T	ENST00000450979.2	+	1	1070	c.770C>T	c.(769-771)cCc>cTc	p.P257L		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	257	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AATGGGATTCCCTTCAATTGC	0.547													10	30	---	---	---	---	0	0
PTPRO	5800	broad.mit.edu	37	12	15742420	15742420	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:15742420G>A	ENST00000281171.4	+	25	3772	c.3442G>A	c.(3442-3444)Gcc>Acc	p.A1148T	PTPRO_ENST00000442921.2_Missense_Mutation_p.A337T|PTPRO_ENST00000348962.2_Missense_Mutation_p.A1120T|PTPRO_ENST00000544244.1_Missense_Mutation_p.A309T|PTPRO_ENST00000445537.2_Missense_Mutation_p.A337T|PTPRO_ENST00000542557.1_Missense_Mutation_p.A309T	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1148	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AACATTCATTGCCCTGGACAG	0.468													47	105	---	---	---	---	0	0
PAN2	9924	broad.mit.edu	37	12	56722258	56722258	+	Silent	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:56722258G>A	ENST00000425394.2	-	3	826	c.450C>T	c.(448-450)taC>taT	p.Y150Y	PAN2_ENST00000440411.3_Silent_p.Y150Y|PAN2_ENST00000548043.1_Silent_p.Y150Y|PAN2_ENST00000257931.5_Silent_p.Y150Y	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	150					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCACTTACAGGTAATCAAATA	0.502													4	155	---	---	---	---	0	0
RNASE7	84659	broad.mit.edu	37	14	21511516	21511516	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr14:21511516A>G	ENST00000298690.4	+	2	622	c.365A>G	c.(364-366)aAa>aGa	p.K122R	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	122					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCAGGTACAAAGAGAAGCGA	0.532													15	134	---	---	---	---	0	0
OIP5	11339	broad.mit.edu	37	15	41624630	41624630	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:41624630C>T	ENST00000220514.3	-	1	189	c.130G>A	c.(130-132)Gtg>Atg	p.V44M		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	44					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GACCCCTTCACCACCTGCGTA	0.672													5	142	---	---	---	---	0	0
TCF12	6938	broad.mit.edu	37	15	57565238	57565238	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:57565238G>A	ENST00000267811.5	+	18	1988	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	TCF12_ENST00000559710.1_Missense_Mutation_p.E196K|TCF12_ENST00000333725.5_Missense_Mutation_p.E586K|TCF12_ENST00000452095.2_Missense_Mutation_p.E582K|TCF12_ENST00000537840.1_Missense_Mutation_p.E326K|TCF12_ENST00000559703.1_Missense_Mutation_p.E219K|TCF12_ENST00000343827.3_Missense_Mutation_p.E392K|TCF12_ENST00000438423.2_Missense_Mutation_p.E586K|TCF12_ENST00000557843.1_Missense_Mutation_p.E562K|TCF12_ENST00000543579.1_Missense_Mutation_p.E416K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	562					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAGTACTAATGAAGATGAGGA	0.388			T	TEC	extraskeletal myxoid chondrosarcoma								8	18	---	---	---	---	0	0
VWA3A	146177	broad.mit.edu	37	16	22132353	22132353	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:22132353C>A	ENST00000389398.5	+	13	1277	c.1181C>A	c.(1180-1182)gCt>gAt	p.A394D	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	394						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AAGCATGACGCTCCTCTCACC	0.443													5	61	---	---	---	---	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57468061	57468061	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:57468061T>A	ENST00000394391.4	-	5	692	c.451A>T	c.(451-453)Agt>Tgt	p.S151C	CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S138C|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S124C	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	151					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGGTTGTCACTTTCATGACCA	0.463													16	96	---	---	---	---	0	0
C16orf80	29105	broad.mit.edu	37	16	58149203	58149203	+	Silent	SNP	G	G	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:58149203G>C	ENST00000262498.3	-	4	769	c.435C>G	c.(433-435)ggC>ggG	p.G145G	C16orf80_ENST00000562443.1_5'UTR	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN	chromosome 16 open reading frame 80	145					multicellular organismal development					kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGTAATTGGTGCCGTATGCTC	0.552													54	91	---	---	---	---	0	0
MYH10	4628	broad.mit.edu	37	17	8526221	8526221	+	Splice_Site	SNP	T	T	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:8526221T>G	ENST00000360416.3	-	2	482	c.344A>C	c.(343-345)tAt>tCt	p.Y115S	MYH10_ENST00000269243.4_Splice_Site_p.Y115S|MYH10_ENST00000379980.4_Splice_Site_p.Y115S|MYH10_ENST00000396239.1_Splice_Site_p.Y115S	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	115	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATACTTACATAGATTAGTCC	0.348													12	24	---	---	---	---	0	0
KSR1	8844	broad.mit.edu	37	17	25950427	25950427	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:25950427A>G	ENST00000578981.1	+	2	327	c.149A>G	c.(148-150)tAt>tGt	p.Y50C	AC015688.3_ENST00000584605.1_Missense_Mutation_p.Y13C|KSR1_ENST00000319524.6_3'UTR|KSR1_ENST00000398988.3_3'UTR|KSR1_ENST00000582410.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	0					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGCCAGCCATATGGTTTTTCG	0.463													5	16	---	---	---	---	0	0
DNAH17	8632	broad.mit.edu	37	17	76496390	76496390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:76496390G>T	ENST00000389840.5	-	36	5719	c.5595C>A	c.(5593-5595)taC>taA	p.Y1865*	DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Y1874*|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.V108L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGCGTACCTTGTAGTCCATCT	0.612													4	19	---	---	---	---	0	0
ACAA2	10449	broad.mit.edu	37	18	47311571	47311571	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr18:47311571A>C	ENST00000285093.10	-	9	1580	c.1105T>G	c.(1105-1107)Tta>Gta	p.L369V	ACAA2_ENST00000587994.1_Missense_Mutation_p.L366V|ACAA2_ENST00000589432.1_Missense_Mutation_p.L314V	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	369					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AAATACCTTAATTCGTGAACC	0.398													4	65	---	---	---	---	0	0
CYP4F22	126410	broad.mit.edu	37	19	15662136	15662136	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:15662136G>T	ENST00000269703.3	+	14	1649	c.1450G>T	c.(1450-1452)Gag>Tag	p.E484*	CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.E484*	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGCCATGGCCGAGTTGCGCGT	0.637													14	15	---	---	---	---	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794476	15794476	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:15794476G>A	ENST00000550308.1	+	7	1201	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R274Q	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATCCGGGAGCGGCGTCGCACC	0.537													33	99	---	---	---	---	0	0
SUGP1	57794	broad.mit.edu	37	19	19431287	19431287	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:19431287T>A	ENST00000247001.5	-	1	366	c.19A>T	c.(19-21)Aac>Tac	p.N7Y	SUGP1_ENST00000334782.5_Missense_Mutation_p.N7Y|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	7					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						ACATCCCGGTTGTCCATCTTG	0.632													28	81	---	---	---	---	0	0
BCAT2	587	broad.mit.edu	37	19	49299745	49299745	+	Silent	SNP	G	G	A			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:49299745G>A	ENST00000402551.1	-	11	1580	c.960C>T	c.(958-960)ccC>ccT	p.P320P	BCAT2_ENST00000598162.1_Silent_p.P360P|BCAT2_ENST00000597011.1_Silent_p.P320P|BCAT2_ENST00000316273.6_Silent_p.P360P|BCAT2_ENST00000545387.2_Silent_p.P268P|BCAT2_ENST00000599246.1_Silent_p.P268P	NM_001284325.1	NP_001271254.1	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	360						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TTTCCATGGTGGGAATGTGGA	0.607													33	78	---	---	---	---	0	0
SESN2	83667	broad.mit.edu	37	1	28598206	28598206	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:28598206A>C	ENST00000253063.3	+	3	499	c.178A>C	c.(178-180)Agc>Cgc	p.S60R		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	60					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGGCTGAGAGCCTCGAGCA	0.592													5	61	---	---	---	---	0	0
ELOVL1	64834	broad.mit.edu	37	1	43830879	43830879	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:43830879A>T	ENST00000372458.3	-	3	332	c.215T>A	c.(214-216)cTc>cAc	p.L72H	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Missense_Mutation_p.L72H	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	72					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTAGAGGGAGAGTGCCACCAG	0.532													12	24	---	---	---	---	0	0
SCYL3	57147	broad.mit.edu	37	1	169839411	169839411	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:169839411T>G	ENST00000367771.6	-	6	824	c.610A>C	c.(610-612)Atc>Ctc	p.I204L	SCYL3_ENST00000367772.4_Missense_Mutation_p.I204L|SCYL3_ENST00000367770.1_Missense_Mutation_p.I204L|SCYL3_ENST00000470238.1_5'UTR	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCATTTAAGATTGTGAGCAAA	0.408													9	63	---	---	---	---	0	0
FAM179A	165186	broad.mit.edu	37	2	29268261	29268261	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr2:29268261A>T	ENST00000379558.4	+	19	3058	c.2707A>T	c.(2707-2709)Aca>Tca	p.T903S	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.T848S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	903							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCTGGATGTCACAGATCGCCT	0.587													11	80	---	---	---	---	0	0
GIGYF2	26058	broad.mit.edu	37	2	233655777	233655777	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr2:233655777A>T	ENST00000373566.3	+	12	1253	c.1056A>T	c.(1054-1056)gaA>gaT	p.E352D	GIGYF2_ENST00000373563.4_Missense_Mutation_p.E330D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E330D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E161D|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E352D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E352D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E324D			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	330					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGTGGACGAAGGGGAGGAGT	0.448													3	43	---	---	---	---	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569210	99569210	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr3:99569210C>G	ENST00000331335.5	-	5	1780	c.1310G>C	c.(1309-1311)aGc>aCc	p.S437T	CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.S197T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.S13T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S197T|FILIP1L_ENST00000354552.3_Missense_Mutation_p.S437T|FILIP1L_ENST00000476723.1_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	437						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTCTTGTTTGCTTTTGTTGAA	0.353													5	53	---	---	---	---	0	0
FILIP1L	11259	broad.mit.edu	37	3	99649664	99649664	+	Silent	SNP	G	G	C			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr3:99649664G>C	ENST00000331335.5	-	2	671	c.201C>G	c.(199-201)ctC>ctG	p.L67L	CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Silent_p.L67L|FILIP1L_ENST00000398326.2_Silent_p.L67L	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	67						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CATCTCTTGAGAGGTCTTCTG	0.512													3	20	---	---	---	---	0	0
G3BP2	9908	broad.mit.edu	37	4	76571629	76571629	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr4:76571629C>T	ENST00000359707.4	-	11	1854	c.1069G>A	c.(1069-1071)Gtt>Att	p.V357I	G3BP2_ENST00000395719.3_Missense_Mutation_p.V357I|G3BP2_ENST00000357854.3_Missense_Mutation_p.V324I	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	357	RRM.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGTTCCACAACGTTTCCAAAA	0.358													7	191	---	---	---	---	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26199817	26199817	+	Missense_Mutation	SNP	C	C	T	rs80084141		TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:26199817C>T	ENST00000359985.1	+	1	70	c.31C>T	c.(31-33)Cca>Tca	p.P11S		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	11					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CGCTCCTGCTCCAAAAAAGGG	0.483													9	89	---	---	---	---	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34824168	34824168	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:34824168C>T	ENST00000192788.5	+	10	1444	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L425F	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	425										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGTAGACTCTCTCTTTCGGAG	0.478													17	87	---	---	---	---	0	0
PGK2	5232	broad.mit.edu	37	6	49754653	49754653	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:49754653A>G	ENST00000304801.3	-	1	400	c.248T>C	c.(247-249)gTt>gCt	p.V83A		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	83					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTGAGCTCAACAGCAACAGG	0.517													15	90	---	---	---	---	0	0
VTA1	51534	broad.mit.edu	37	6	142490757	142490757	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:142490757A>T	ENST00000367630.4	+	3	336	c.278A>T	c.(277-279)tAt>tTt	p.Y93F	VTA1_ENST00000452973.2_Missense_Mutation_p.Y35F|VTA1_ENST00000367621.1_Missense_Mutation_p.Y35F	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	93	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TTGGAGAATTATGCTTTGAAA	0.303													3	29	---	---	---	---	0	0
KCNT1	57582	broad.mit.edu	37	9	138657479	138657479	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr9:138657479G>A	ENST00000298480.5	+	13	1284	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	KCNT1_ENST00000263604.3_Missense_Mutation_p.V385M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V385M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V365M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V385M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V371M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V359M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V404M			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	404						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGACTATTACGTGGTCATCCT	0.662													7	20	---	---	---	---	0	0
KMT2D	8085	broad.mit.edu	37	12	49434307	49434307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:49434307G>A	ENST00000301067.7	-	31	7245	c.7246C>T	c.(7246-7248)Cag>Tag	p.Q2416*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GACTGGGACTGAGGACTGGCA	0.647													4	31	---	---	---	---	0	0
FRS2	10818	broad.mit.edu	37	12	69968695	69968695	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:69968695C>G	ENST00000299293.2	+	10	1997	c.1487C>G	c.(1486-1488)tCt>tGt	p.S496C	FRS2_ENST00000550389.1_Missense_Mutation_p.S496C|FRS2_ENST00000549921.1_Missense_Mutation_p.S496C|FRS2_ENST00000397997.2_Missense_Mutation_p.S496C	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	496					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GATGGTACATCTAGGAAAACT	0.443													16	77	---	---	---	---	0	0
KERA	11081	broad.mit.edu	37	12	91449954	91449954	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:91449954C>A	ENST00000266719.3	-	2	352	c.105G>T	c.(103-105)tgG>tgT	p.W35C		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	35	LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CATGAATAGTCCAATCATCTG	0.413													10	48	---	---	---	---	0	0
UTP20	27340	broad.mit.edu	37	12	101720875	101720875	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:101720875A>G	ENST00000261637.4	+	26	3232	c.3058A>G	c.(3058-3060)Atg>Gtg	p.M1020V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1020					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTATGGGCGAATGAAGAATAA	0.433													30	49	---	---	---	---	0	0
HEATR6	63897	broad.mit.edu	37	17	58134531	58134531	+	Missense_Mutation	SNP	G	G	A	rs117309766	by1000genomes	TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr17:58134531G>A	ENST00000184956.6	-	12	1973	c.1957C>T	c.(1957-1959)Ctc>Ttc	p.L653F	HEATR6_ENST00000585976.1_Missense_Mutation_p.L653F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	653							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGTCGAATGAGCCAGCAGGGC	0.557													7	110	---	---	---	---	0	0
PER3	8863	broad.mit.edu	37	1	7848219	7848219	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:7848219G>C	ENST00000377532.3	+	4	729	c.505G>C	c.(505-507)Gac>Cac	p.D169H	PER3_ENST00000377541.1_Missense_Mutation_p.D169H|PER3_ENST00000361923.2_Missense_Mutation_p.D169H			P56645	PER3_HUMAN	period circadian clock 3	169	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCACTTTGTTGACCTGCTTGC	0.468													14	54	---	---	---	---	0	0
PER3	8863	broad.mit.edu	37	1	7848268	7848268	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:7848268G>C	ENST00000377532.3	+	4	778	c.554G>C	c.(553-555)aGa>aCa	p.R185T	PER3_ENST00000377541.1_Missense_Mutation_p.R185T|PER3_ENST00000361923.2_Missense_Mutation_p.R185T			P56645	PER3_HUMAN	period circadian clock 3	185	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CACACTGCCAGAGCTCAGCTT	0.463													4	45	---	---	---	---	0	0
UBE4B	10277	broad.mit.edu	37	1	10186877	10186877	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:10186877T>C	ENST00000377157.3	+	10	1906	c.845T>C	c.(844-846)cTg>cCg	p.L282P	UBE4B_ENST00000253251.8_Missense_Mutation_p.L398P|UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.L527P	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	527					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTACAAGGCCTGGCTCTTGCT	0.348													8	66	---	---	---	---	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35921839	35921839	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:35921839C>G	ENST00000325722.3	-	10	1665	c.1431G>C	c.(1429-1431)ttG>ttC	p.L477F	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	477	PKD 2.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTACTACAGTCAAGCTATCAG	0.473													17	33	---	---	---	---	0	0
TIE1	7075	broad.mit.edu	37	1	43779603	43779603	+	Silent	SNP	G	G	T	rs150268802		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:43779603G>T	ENST00000372476.3	+	14	2452	c.2373G>T	c.(2371-2373)ctG>ctT	p.L791L	TIE1_ENST00000433781.2_Silent_p.L436L|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	791					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAAGCTGCCTGCATCGGAGAC	0.612													6	37	---	---	---	---	0	0
FAM151A	338094	broad.mit.edu	37	1	55077406	55077406	+	Silent	SNP	C	C	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:55077406C>T	ENST00000302250.2	-	6	973	c.813G>A	c.(811-813)acG>acA	p.T271T	FAM151A_ENST00000371304.2_Silent_p.T271T|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	271						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCTGCCACAGCGTCAGGCTGT	0.597													8	59	---	---	---	---	0	0
OR10R2	343406	broad.mit.edu	37	1	158450409	158450409	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:158450409A>C	ENST00000368152.1	+	1	742	c.742A>C	c.(742-744)Att>Ctt	p.I248L	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TATCCTGAAGATTCCCTCAGC	0.438													10	75	---	---	---	---	0	0
SLC9C2	284525	broad.mit.edu	37	1	173556842	173556842	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:173556842A>G	ENST00000367714.3	-	5	907	c.485T>C	c.(484-486)aTa>aCa	p.I162T	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I60T|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	162					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AAGAGGATCTATAATGCCAAG	0.318													6	66	---	---	---	---	0	0
PTPRC	5788	broad.mit.edu	37	1	198703477	198703477	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:198703477G>C	ENST00000367376.2	+	22	2365	c.2194G>C	c.(2194-2196)Gat>Cat	p.D732H	PTPRC_ENST00000348564.6_Missense_Mutation_p.D573H|PTPRC_ENST00000442510.2_Missense_Mutation_p.D734H|PTPRC_ENST00000594404.1_Missense_Mutation_p.D571H|PTPRC_ENST00000352140.3_Missense_Mutation_p.D684H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	732	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGAAACTGTTGATGATTTCTG	0.348													14	401	---	---	---	---	0	0
LAMB3	3914	broad.mit.edu	37	1	209804013	209804013	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:209804013T>G	ENST00000391911.1	-	8	1279	c.890A>C	c.(889-891)tAc>tCc	p.Y297S	LAMB3_ENST00000356082.4_Missense_Mutation_p.Y297S|LAMB3_ENST00000367030.3_Missense_Mutation_p.Y297S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	297	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCGGTTGTTGTAGAAGGGTGC	0.612													4	32	---	---	---	---	0	0
CH17-132F21.1	0	broad.mit.edu	37	2	90458660	90458660	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:90458660C>A	ENST00000603238.1	+	2	336	c.336C>A	c.(334-336)gaC>gaA	p.D112E																								AACAGAGTGACAGTACCCCTC	0.522													20	446	---	---	---	---	0	0
SCN10A	6336	broad.mit.edu	37	3	38793972	38793972	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr3:38793972C>T	ENST00000449082.2	-	11	1492	c.1493G>A	c.(1492-1494)cGg>cAg	p.R498Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	498					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATGACTAGCCCGGCGTTTTCC	0.547													7	25	---	---	---	---	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447770	10447770	+	Silent	SNP	T	T	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr4:10447770T>A	ENST00000326756.3	-	3	621	c.183A>T	c.(181-183)gcA>gcT	p.A61A		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTTGCACTTTGCACATGTAG	0.488													16	131	---	---	---	---	0	0
TBC1D19	55296	broad.mit.edu	37	4	26622238	26622238	+	Silent	SNP	T	T	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr4:26622238T>C	ENST00000264866.4	+	4	500	c.222T>C	c.(220-222)ttT>ttC	p.F74F	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Intron	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	74						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTCCTAGGTTTCCTTTACCTA	0.368													15	51	---	---	---	---	0	0
XPO5	57510	broad.mit.edu	37	6	43519114	43519114	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:43519114G>A	ENST00000265351.7	-	15	1859	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	550	Necessary for interaction with ILF3.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AAGGACGCAGGACAGGATGAG	0.438													24	56	---	---	---	---	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791238	50791238	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:50791238C>T	ENST00000263046.4	+	3	393	c.227C>T	c.(226-228)cCg>cTg	p.P76L	TFAP2B_ENST00000393655.3_Missense_Mutation_p.P67L|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	67	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GACTTCCAGCCGCCCTACTTC	0.692													8	27	---	---	---	---	0	0
PCLO	27445	broad.mit.edu	37	7	82764221	82764221	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr7:82764221C>A	ENST00000333891.9	-	3	2982	c.2645G>T	c.(2644-2646)cGa>cTa	p.R882L	PCLO_ENST00000423517.2_Missense_Mutation_p.R882L	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R882L(2)|p.R828L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCGGTAGGTCGTGGGCCAGG	0.517													6	264	---	---	---	---	0	0
TMEM209	84928	broad.mit.edu	37	7	129818271	129818271	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr7:129818271T>C	ENST00000397622.2	-	10	1339	c.1217A>G	c.(1216-1218)aAt>aGt	p.N406S	TMEM209_ENST00000473456.1_Intron|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Missense_Mutation_p.N405S|TMEM209_ENST00000336804.8_Intron	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	406						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GTATTCCTGATTTGGAGTAAG	0.353													5	20	---	---	---	---	0	0
ZNF707	286075	broad.mit.edu	37	8	144776071	144776071	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr8:144776071C>T	ENST00000532205.1	+	8	1386	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ZNF707_ENST00000454097.1_Missense_Mutation_p.R163C|ZNF707_ENST00000358656.4_Missense_Mutation_p.R163C|ZNF707_ENST00000532158.1_Missense_Mutation_p.R163C|ZNF707_ENST00000418203.2_Missense_Mutation_p.R163C			Q96C28	ZN707_HUMAN	zinc finger protein 707	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGGCCGGGCCGCAGAGAGCG	0.677													4	19	---	---	---	---	0	0
C10orf53	282966	broad.mit.edu	37	10	50901903	50901903	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr10:50901903G>A	ENST00000374113.3	+	2	228	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	C10orf53_ENST00000374111.3_Missense_Mutation_p.V61I|C10orf53_ENST00000374112.3_Missense_Mutation_p.V61I|CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000535836.1_Missense_Mutation_p.V61I			Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	61										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GAATGAAGAAGTCATCTTCCA	0.468													20	48	---	---	---	---	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643191	1643191	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr11:1643191A>G	ENST00000399682.1	-	1	177	c.133T>C	c.(133-135)Tgt>Cgt	p.C45R		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	45						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGagccacagcccccacag	0.692													4	105	---	---	---	---	0	0
SERPING1	710	broad.mit.edu	37	11	57367489	57367489	+	Silent	SNP	C	C	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr11:57367489C>A	ENST00000403558.1	+	2	657	c.291C>A	c.(289-291)tcC>tcA	p.S97S	SERPING1_ENST00000378323.4_Silent_p.S68S|SERPING1_ENST00000378324.2_Silent_p.S11S|SERPING1_ENST00000340687.6_Silent_p.S63S|SERPING1_ENST00000278407.4_Silent_p.S63S	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	63	7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		Missing (in HAE; type 2).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TGGAGGTTTCCAGCTTGCCGA	0.512													7	36	---	---	---	---	0	0
WNT1	7471	broad.mit.edu	37	12	49374247	49374247	+	Silent	SNP	C	C	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr12:49374247C>T	ENST00000293549.3	+	3	435	c.399C>T	c.(397-399)gcC>gcT	p.A133A		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	133					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TCACCTCCGCCGGGGTCACCC	0.682													11	36	---	---	---	---	0	0
PCNXL4	64430	broad.mit.edu	37	14	60591204	60591204	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr14:60591204G>T	ENST00000406854.1	+	9	2869	c.2315G>T	c.(2314-2316)tGc>tTc	p.C772F	PCNXL4_ENST00000406949.1_Missense_Mutation_p.C538F|PCNXL4_ENST00000404681.2_Missense_Mutation_p.C772F|PCNXL4_ENST00000317623.4_Missense_Mutation_p.C538F|PCNXL4_ENST00000535349.1_5'UTR					pecanex-like 4 (Drosophila)																		GTTCAATACTGCTCCAAAAGG	0.388													14	97	---	---	---	---	0	0
C16orf89	146556	broad.mit.edu	37	16	5110422	5110422	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:5110422A>G	ENST00000315997.5	-	3	575	c.374T>C	c.(373-375)cTc>cCc	p.L125P	C16orf89_ENST00000350219.4_Missense_Mutation_p.L163P|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.L163P|C16orf89_ENST00000474471.3_Missense_Mutation_p.L125P|C16orf89_ENST00000472572.3_Missense_Mutation_p.L125P	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	125						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCCGGGCTGGAGGGTCAGCTG	0.627													3	43	---	---	---	---	0	0
COG7	91949	broad.mit.edu	37	16	23417460	23417460	+	Silent	SNP	A	A	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:23417460A>G	ENST00000307149.5	-	12	1784	c.1599T>C	c.(1597-1599)aaT>aaC	p.N533N		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	533					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCTGGAGGTAATTATATTCTT	0.423													30	113	---	---	---	---	0	0
SALL1	6299	broad.mit.edu	37	16	51175110	51175110	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:51175110C>A	ENST00000440970.1	-	2	1163	c.732G>T	c.(730-732)atG>atT	p.M244I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.M341I|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	341					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCAATATGTTCATATTGGGAG	0.537													9	92	---	---	---	---	0	0
KLHDC4	54758	broad.mit.edu	37	16	87760499	87760499	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:87760499A>G	ENST00000270583.5	-	7	689	c.631T>C	c.(631-633)Ttt>Ctt	p.F211L	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.F154L|KLHDC4_ENST00000347925.5_Missense_Mutation_p.F180L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	211										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCCAGATTAAAGGCATACACG	0.532													9	29	---	---	---	---	0	0
NEURL4	84461	broad.mit.edu	37	17	7222513	7222513	+	Silent	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr17:7222513G>A	ENST00000399464.2	-	22	3555	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	NEURL4_ENST00000570460.1_Silent_p.F1156F|NEURL4_ENST00000315614.7_Silent_p.F1178F	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCGGTTTAGGAAATCTATCC	0.567													9	34	---	---	---	---	0	0
TXNDC2	0	broad.mit.edu	37	18	9888099	9888099	+	Silent	SNP	T	T	G			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr18:9888099T>G	ENST00000357775.5	+	2	1657	c.1422T>G	c.(1420-1422)ctT>ctG	p.L474L	TXNDC2_ENST00000306084.6_Silent_p.L541L|TXNDC2_ENST00000536353.2_3'UTR	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)		Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCGGCGCCCTTAAGGAAAAAC	0.393													8	15	---	---	---	---	0	0
SUPT5H	6829	broad.mit.edu	37	19	39964093	39964093	+	Silent	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr19:39964093G>A	ENST00000599117.1	+	26	2791	c.2424G>A	c.(2422-2424)ctG>ctA	p.L808L	SUPT5H_ENST00000402194.2_Silent_p.L804L|SUPT5H_ENST00000359191.6_Silent_p.L804L|SUPT5H_ENST00000432763.2_Silent_p.L808L|SUPT5H_ENST00000598725.1_Silent_p.L808L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	808	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGACGCCCCTGCATGATGGCA	0.632													20	72	---	---	---	---	0	0
KIF16B	55614	broad.mit.edu	37	20	16360454	16360454	+	Silent	SNP	G	G	A			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr20:16360454G>A	ENST00000354981.2	-	19	2350	c.2193C>T	c.(2191-2193)gaC>gaT	p.D731D	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.D731D|KIF16B_ENST00000408042.1_Silent_p.D731D	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	731	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTGGAGCTGGTCCAGTTCTT	0.458													15	64	---	---	---	---	0	0
LPAR4	2846	broad.mit.edu	37	X	78010846	78010846	+	Silent	SNP	T	T	C			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chrX:78010846T>C	ENST00000435339.3	+	2	866	c.480T>C	c.(478-480)gcT>gcC	p.A160A		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGTGTGTGCTGGTGTCTGGA	0.463													7	21	---	---	---	---	0	0
CYP4Z2P	0	broad.mit.edu	37	1	47325397	47325397	+	RNA	SNP	G	G	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:47325397G>C	ENST00000505841.1	-	0	1132					NR_002788.2																						TACTACCGGTGCGTAGAGGCG	0.473													7	75	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158606500	158606500	+	Silent	SNP	C	C	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:158606500C>A	ENST00000368147.4	-	37	5421	c.5241G>T	c.(5239-5241)ggG>ggT	p.G1747G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTTCTGAACCCCCTGAAGAT	0.463													24	118	---	---	---	---	0	0
ASTN1	460	broad.mit.edu	37	1	176927554	176927554	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr1:176927554C>G	ENST00000367654.3	-	10	1898	c.1687G>C	c.(1687-1689)Gcc>Ccc	p.A563P	ASTN1_ENST00000361833.2_Missense_Mutation_p.A555P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.A555P|ASTN1_ENST00000424564.2_Missense_Mutation_p.A555P	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCCAGTTCGGCTGGTGGAATC	0.562													18	22	---	---	---	---	0	0
MAP2	4133	broad.mit.edu	37	2	210561313	210561313	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr2:210561313G>C	ENST00000360351.4	+	8	4734	c.4228G>C	c.(4228-4230)Gag>Cag	p.E1410Q	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1406Q|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1410					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TATTCCTAAAGAGGAGAAAGC	0.383													17	38	---	---	---	---	0	0
MFF	56947	broad.mit.edu	37	2	228197187	228197187	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr2:228197187G>T	ENST00000353339.3	+	5	753	c.312G>T	c.(310-312)caG>caT	p.Q104H	MFF_ENST00000354503.6_Missense_Mutation_p.Q78H|MFF_ENST00000409565.1_Missense_Mutation_p.Q78H|MFF_ENST00000304593.9_Missense_Mutation_p.Q78H|MFF_ENST00000409616.1_Missense_Mutation_p.Q78H|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000337110.7_Missense_Mutation_p.Q78H|MFF_ENST00000349901.7_Missense_Mutation_p.Q78H|MFF_ENST00000392059.1_Missense_Mutation_p.Q104H|MFF_ENST00000524634.1_5'UTR	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	104						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						ACCTTATTCAGTCAACTCCCT	0.403													6	223	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126319977	126319977	+	Silent	SNP	A	A	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr4:126319977A>T	ENST00000394329.3	+	2	5227	c.5214A>T	c.(5212-5214)ccA>ccT	p.P1738P	FAT4_ENST00000335110.5_Silent_p.P36P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1738	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAATCCACCAGTATTTCCAA	0.428													50	79	---	---	---	---	0	0
DCHS2	54798	broad.mit.edu	37	4	155254133	155254133	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr4:155254133C>T	ENST00000357232.4	-	9	1729	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	DCHS2_ENST00000339452.1_Missense_Mutation_p.R1076H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCTGTGTTCGCGTTTCTCGAT	0.577													27	44	---	---	---	---	0	0
GPR126	0	broad.mit.edu	37	6	142630689	142630689	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr6:142630689G>A	ENST00000230173.6	+	2	487	c.11G>A	c.(10-12)cGc>cAc	p.R4H	GPR126_ENST00000367608.2_Missense_Mutation_p.R4H|GPR126_ENST00000296932.8_Missense_Mutation_p.R4H|GPR126_ENST00000367609.3_Missense_Mutation_p.R4H|GPR126_ENST00000545477.1_3'UTR	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	4					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGGATGTTTCGCTCAGATCGA	0.393													3	6	---	---	---	---	0	0
EPPK1	83481	broad.mit.edu	37	8	144940884	144940884	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr8:144940884G>C	ENST00000525985.1	-	2	6609	c.6538C>G	c.(6538-6540)Cag>Gag	p.Q2180E				P58107	EPIPL_HUMAN	epiplakin 1	2180						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGTGATCTGTCGTCTAATT	0.537													93	262	---	---	---	---	0	0
PLEC	5339	broad.mit.edu	37	8	144990642	144990642	+	Silent	SNP	C	C	G			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr8:144990642C>G	ENST00000322810.4	-	32	13927	c.13758G>C	c.(13756-13758)gcG>gcC	p.A4586A	PLEC_ENST00000398774.2_Silent_p.A4417A|PLEC_ENST00000356346.3_Silent_p.A4435A|PLEC_ENST00000354589.3_Silent_p.A4449A|PLEC_ENST00000354958.2_Silent_p.A4427A|PLEC_ENST00000527096.1_Silent_p.A4472A|PLEC_ENST00000436759.2_Silent_p.A4476A|PLEC_ENST00000345136.3_Silent_p.A4449A|PLEC_ENST00000357649.2_Silent_p.A4453A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4586	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGGTCCAGCGCGTCCTTAT	0.657													4	246	---	---	---	---	0	0
GBF1	8729	broad.mit.edu	37	10	104140384	104140384	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr10:104140384G>A	ENST00000369983.3	+	38	5371	c.5111G>A	c.(5110-5112)cGc>cAc	p.R1704H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1704					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.R1704H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACCTGGGAACGCATTGACTGT	0.557													5	329	---	---	---	---	0	0
C10orf137	26098	broad.mit.edu	37	10	127431798	127431798	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr10:127431798G>T	ENST00000337623.3	+	17	2546	c.2441G>T	c.(2440-2442)gGt>gTt	p.G814V	C10orf137_ENST00000356792.4_Missense_Mutation_p.G848V	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	848					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATGAAATTGGTGTGTTTTAC	0.363													11	28	---	---	---	---	0	0
SERGEF	26297	broad.mit.edu	37	11	18026082	18026082	+	Splice_Site	SNP	T	T	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr11:18026082T>C	ENST00000265965.5	-	4	504	c.353A>G	c.(352-354)gAa>gGa	p.E118G	RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000528200.1_Splice_Site_p.E118G|SERGEF_ENST00000532212.1_5'UTR|SERGEF_ENST00000532265.1_Splice_Site_p.E4G	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	118					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TTGACCATTTTCTGCAAAATA	0.453													7	9	---	---	---	---	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136892	40136892	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr11:40136892T>A	ENST00000278198.2	-	2	2914	c.951A>T	c.(949-951)aaA>aaT	p.K317N	LRRC4C_ENST00000530763.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K317N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	317	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGCCATGTCTTTTATCCACC	0.483													27	28	---	---	---	---	0	0
CACNA1C	775	broad.mit.edu	37	12	2676868	2676868	+	Silent	SNP	G	G	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:2676868G>A	ENST00000399655.1	+	13	2068	c.1803G>A	c.(1801-1803)ctG>ctA	p.L601L	CACNA1C_ENST00000480911.1_Silent_p.L601L|CACNA1C_ENST00000399595.1_Silent_p.L601L|CACNA1C_ENST00000406454.3_Silent_p.L601L|CACNA1C_ENST00000399597.1_Silent_p.L601L|CACNA1C_ENST00000399641.1_Silent_p.L601L|CACNA1C_ENST00000399591.1_Silent_p.L601L|CACNA1C_ENST00000399606.1_Silent_p.L601L|CACNA1C_ENST00000399634.1_Silent_p.L601L|CACNA1C_ENST00000399638.1_Silent_p.L601L|CACNA1C_ENST00000399621.1_Silent_p.L601L|CACNA1C_ENST00000399617.1_Silent_p.L601L|CACNA1C_ENST00000399644.1_Silent_p.L601L|CACNA1C_ENST00000399649.1_Silent_p.L601L|CACNA1C_ENST00000335762.5_Silent_p.L626L|CACNA1C_ENST00000399637.1_Silent_p.L601L|CACNA1C_ENST00000344100.3_Silent_p.L601L|CACNA1C_ENST00000399601.1_Silent_p.L601L|CACNA1C_ENST00000399629.1_Silent_p.L601L|CACNA1C_ENST00000402845.3_Silent_p.L601L|CACNA1C_ENST00000347598.4_Silent_p.L601L|CACNA1C_ENST00000327702.7_Silent_p.L601L|CACNA1C_ENST00000399603.1_Silent_p.L601L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	601					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.L601L(3)|p.L136L(1)|p.L631L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCGGCATCCTGGAGACCATCC	0.582													14	18	---	---	---	---	0	0
KMT2D	8085	broad.mit.edu	37	12	49427537	49427537	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:49427537G>T	ENST00000301067.7	-	39	10950	c.10951C>A	c.(10951-10953)Caa>Aaa	p.Q3651K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCTCCGGCTTGCCCACCCGGA	0.662													3	23	---	---	---	---	0	0
ACACB	32	broad.mit.edu	37	12	109703025	109703025	+	Silent	SNP	T	T	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr12:109703025T>C	ENST00000338432.7	+	51	7172	c.7053T>C	c.(7051-7053)agT>agC	p.S2351S	ACACB_ENST00000377854.5_Silent_p.S2281S|ACACB_ENST00000377848.3_Silent_p.S2351S|ACACB_ENST00000543201.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2351					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGGAGCTGAGTCACGTGCATA	0.652													10	74	---	---	---	---	0	0
MGA	23269	broad.mit.edu	37	15	41961930	41961930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr15:41961930G>T	ENST00000219905.7	+	2	1019	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	MGA_ENST00000389936.4_Nonsense_Mutation_p.E280*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E280*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E280*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E280*|MGA_ENST00000568630.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	280						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTCTGACCAAGAAGGGAATAA	0.448													3	3	---	---	---	---	0	0
FGF7	2252	broad.mit.edu	37	15	49716687	49716687	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr15:49716687A>T	ENST00000267843.4	+	2	804	c.193A>T	c.(193-195)Aga>Tga	p.R65*	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560270.1_Nonsense_Mutation_p.R65*	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	65					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	AGGGGATATAAGAGTGAGAAG	0.423													3	47	---	---	---	---	0	0
MYO15A	51168	broad.mit.edu	37	17	18052096	18052096	+	Silent	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr17:18052096C>T	ENST00000205890.5	+	33	7124	c.6786C>T	c.(6784-6786)cgC>cgT	p.R2262R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2262	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGGCTGGCGCGGCTGGACCG	0.602													10	10	---	---	---	---	0	0
SMCR8	140775	broad.mit.edu	37	17	18220605	18220605	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr17:18220605T>G	ENST00000406438.3	+	1	1982	c.1502T>G	c.(1501-1503)gTg>gGg	p.V501G		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	501										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGCCCCCAGGTGGTCCGGAGC	0.532													65	58	---	---	---	---	0	0
PTPRM	5797	broad.mit.edu	37	18	8143703	8143703	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr18:8143703A>C	ENST00000332175.8	+	14	3263	c.2226A>C	c.(2224-2226)aaA>aaC	p.K742N	PTPRM_ENST00000400053.4_Missense_Mutation_p.K680N|PTPRM_ENST00000444013.1_Missense_Mutation_p.K529N|PTPRM_ENST00000400060.4_Missense_Mutation_p.K742N|PTPRM_ENST00000580170.1_Missense_Mutation_p.K742N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	742					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ATACAGTTAAAATTGCTGGAG	0.448													51	54	---	---	---	---	0	0
VAV1	7409	broad.mit.edu	37	19	6850726	6850726	+	Silent	SNP	A	A	C			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:6850726A>C	ENST00000304076.2	+	23	2203	c.2109A>C	c.(2107-2109)ggA>ggC	p.G703G	VAV1_ENST00000539284.1_Silent_p.G628G|VAV1_ENST00000599806.1_Silent_p.G670G|VAV1_ENST00000602142.1_Silent_p.G725G|VAV1_ENST00000596764.1_Silent_p.G693G	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	725	SH2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGCAGAAGGACTGTACCGGA	0.552													27	31	---	---	---	---	0	0
POU2F2	5452	broad.mit.edu	37	19	42599443	42599443	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr19:42599443G>T	ENST00000389341.5	-	11	1144	c.1078C>A	c.(1078-1080)Cat>Aat	p.H360N	POU2F2_ENST00000526816.2_Missense_Mutation_p.H376N|POU2F2_ENST00000560398.1_Missense_Mutation_p.H382N|POU2F2_ENST00000533720.1_Missense_Mutation_p.H360N|POU2F2_ENST00000560558.1_Missense_Mutation_p.H321N|POU2F2_ENST00000529952.1_Missense_Mutation_p.H376N|POU2F2_ENST00000342301.4_Missense_Mutation_p.H376N|POU2F2_ENST00000529067.1_Missense_Mutation_p.H360N	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	376					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GGTACCATATGGGGGCTGTAG	0.652													7	11	---	---	---	---	0	0
SLC12A5	57468	broad.mit.edu	37	20	44674562	44674562	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr20:44674562C>T	ENST00000243964.3	+	13	1713	c.1615C>T	c.(1615-1617)Ctc>Ttc	p.L539F	SLC12A5_ENST00000454036.2_Missense_Mutation_p.L562F	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	562					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGGCCCTGCTCCTGACTGC	0.587													5	81	---	---	---	---	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41318452	41318452	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr22:41318452C>A	ENST00000357137.4	+	8	1255	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.L368M	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	391					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GATGCTGACCCTGATAGGACA	0.453													5	209	---	---	---	---	0	0
SV2A	0	broad.mit.edu	37	1	149884966	149884966	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:149884966T>C	ENST00000369146.3	-	2	917	c.427A>G	c.(427-429)Aaa>Gaa	p.K143E	SV2A_ENST00000369145.1_Missense_Mutation_p.K143E	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	143					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCTCGTTCTTTCCGTCGTTGT	0.637													23	45	---	---	---	---	0	0
ZNF648	127665	broad.mit.edu	37	1	182025561	182025561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:182025561C>A	ENST00000339948.3	-	2	1792	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TAGGGCCTCTCTCCGTTGTGC	0.612													3	29	---	---	---	---	0	0
LCT	3938	broad.mit.edu	37	2	136570301	136570301	+	Silent	SNP	G	G	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr2:136570301G>A	ENST00000264162.2	-	7	1943	c.1933C>T	c.(1933-1935)Ctg>Ttg	p.L645L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	645	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGGTCCTCAGGGTGGCTGGG	0.577													5	80	---	---	---	---	0	0
ILDR1	286676	broad.mit.edu	37	3	121724129	121724129	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr3:121724129C>T	ENST00000273691.3	-	3	446	c.341G>A	c.(340-342)gGg>gAg	p.G114E	ILDR1_ENST00000462014.1_Missense_Mutation_p.G126E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.G114E|ILDR1_ENST00000393631.1_Missense_Mutation_p.G114E	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	114	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTAATCTACCCCCAGCACGGG	0.642													3	32	---	---	---	---	0	0
LAMP3	27074	broad.mit.edu	37	3	182853620	182853620	+	Silent	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr3:182853620C>T	ENST00000265598.3	-	5	1257	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	LAMP3_ENST00000466939.1_Silent_p.G310G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	334					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGAAGGAATGCCCGACTGCTG	0.468													5	383	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126372407	126372407	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr4:126372407G>C	ENST00000394329.3	+	9	10249	c.10236G>C	c.(10234-10236)caG>caC	p.Q3412H	FAT4_ENST00000335110.5_Missense_Mutation_p.Q1710H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3412	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGTGTGCAGATCAGTGAAG	0.463													83	90	---	---	---	---	0	0
PCDHGB1	0	broad.mit.edu	37	5	140731932	140731932	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr5:140731932C>T	ENST00000523390.1	+	1	2105	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTCCTCGCGGTGATTCTA	0.617													8	184	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100683689	100683689	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr7:100683689C>T	ENST00000306151.4	+	3	9056	c.8992C>T	c.(8992-8994)Ccg>Tcg	p.P2998S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2998	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTGGCCAG	0.507													5	572	---	---	---	---	0	0
PDP1	54704	broad.mit.edu	37	8	94934399	94934399	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr8:94934399T>C	ENST00000396200.3	+	3	463	c.187T>C	c.(187-189)Tac>Cac	p.Y63H	PDP1_ENST00000297598.4_Missense_Mutation_p.Y38H|PDP1_ENST00000520728.1_Missense_Mutation_p.Y38H|PDP1_ENST00000517764.1_Missense_Mutation_p.Y38H	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	38					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTCCTCATCGTACATTCCTCA	0.468													32	85	---	---	---	---	0	0
KIAA1429	25962	broad.mit.edu	37	8	95538772	95538772	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr8:95538772T>G	ENST00000297591.5	-	8	1775	c.1700A>C	c.(1699-1701)aAa>aCa	p.K567T	KIAA1429_ENST00000437199.1_Missense_Mutation_p.K567T|KIAA1429_ENST00000421249.2_Missense_Mutation_p.K567T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	567					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACCAAGTCTTTTAATCTCTGA	0.418													202	123	---	---	---	---	0	0
DBH	1621	broad.mit.edu	37	9	136513016	136513016	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr9:136513016G>A	ENST00000393056.2	+	6	1085	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	358					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCCAAGCTGCGGCGCTTCAAC	0.607													21	33	---	---	---	---	0	0
RECQL	5965	broad.mit.edu	37	12	21626537	21626537	+	Silent	SNP	T	T	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr12:21626537T>C	ENST00000444129.2	-	12	1863	c.1395A>G	c.(1393-1395)gtA>gtG	p.V465V	RECQL_ENST00000421138.2_Silent_p.V465V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	465					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CTGAGTTCCATACTTCATCAA	0.323								Other identified genes with known or suspected DNA repair function					4	49	---	---	---	---	0	0
C15orf57	90416	broad.mit.edu	37	15	40855084	40855084	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr15:40855084A>C	ENST00000358005.3	-	2	404	c.131T>G	c.(130-132)gTg>gGg	p.V44G	C15orf57_ENST00000558113.1_Missense_Mutation_p.V44G|C15orf57_ENST00000416810.2_Missense_Mutation_p.V44G|C15orf57_ENST00000559911.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000560305.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558750.1_Missense_Mutation_p.V53G|C15orf57_ENST00000561011.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558871.1_Missense_Mutation_p.V44G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	44										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						GCAAGAATCCACAAAGGAGTC	0.512													24	233	---	---	---	---	0	0
CAPN3	825	broad.mit.edu	37	15	42681285	42681285	+	Silent	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr15:42681285C>T	ENST00000397163.3	+	5	1011	c.792C>T	c.(790-792)tgC>tgT	p.C264C	CAPN3_ENST00000357568.3_Silent_p.C264C|CAPN3_ENST00000318023.7_Silent_p.C264C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.C177C|CAPN3_ENST00000349748.3_Silent_p.C264C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	264	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCATGGGCTGCTCCATTGATG	0.527													24	65	---	---	---	---	0	0
KMT2B	9757	broad.mit.edu	37	19	36211883	36211883	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr19:36211883G>A	ENST00000222270.7	+	3	1634	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R545Q|KMT2B_ENST00000341701.1_Intron	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		ACACCCCGGCGATTTATGGAT	0.587													7	8	---	---	---	---	0	0
NCDN	23154	broad.mit.edu	37	1	36026232	36026232	+	Silent	SNP	G	G	T	rs139104373		TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:36026232G>T	ENST00000373243.2	+	3	863	c.480G>T	c.(478-480)acG>acT	p.T160T	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Silent_p.T160T|NCDN_ENST00000373253.3_Silent_p.T143T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	160					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTGCCTGACGGCTGTAGCAG	0.617													4	78	---	---	---	---	0	0
COL11A1	1301	broad.mit.edu	37	1	103400616	103400616	+	Splice_Site	SNP	A	A	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:103400616A>T	ENST00000358392.2	-	45	3845	c.3528T>A	c.(3526-3528)gcT>gcA	p.A1176A	COL11A1_ENST00000353414.4_Splice_Site_p.A1125A|COL11A1_ENST00000370096.3_Splice_Site_p.A1164A|COL11A1_ENST00000512756.1_Splice_Site_p.A1048A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1164	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAATACTCACAGCAATTCCAG	0.428													3	31	---	---	---	---	0	0
LYST	1130	broad.mit.edu	37	1	235973754	235973754	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr1:235973754A>T	ENST00000389794.3	-	5	538	c.364T>A	c.(364-366)Tta>Ata	p.L122I	LYST_ENST00000536965.1_Missense_Mutation_p.L122I|LYST_ENST00000389793.2_Missense_Mutation_p.L122I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	122					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTAAATGTAATTTTTCCTGA	0.368													28	61	---	---	---	---	0	0
PLXNB1	5364	broad.mit.edu	37	3	48463187	48463187	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr3:48463187C>A	ENST00000358536.4	-	7	1818	c.1549G>T	c.(1549-1551)Ggc>Tgc	p.G517C	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G517C|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G517C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G517C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	517					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGCCCTGGCCCCTCGAGCAC	0.612													3	28	---	---	---	---	0	0
PAQR9	344838	broad.mit.edu	37	3	142681313	142681313	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr3:142681313A>C	ENST00000340634.3	-	1	865	c.866T>G	c.(865-867)tTc>tGc	p.F289C		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	289						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACGTTGAAGAAGGCGGCCAC	0.587													7	45	---	---	---	---	0	0
GPR125	166647	broad.mit.edu	37	4	22415404	22415404	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr4:22415404G>C	ENST00000334304.5	-	13	2112	c.1843C>G	c.(1843-1845)Cct>Gct	p.P615A	GPR125_ENST00000282943.5_Intron	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	615					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAAAGGGAAGGAGGAAGCTGA	0.348													11	41	---	---	---	---	0	0
PCDHB1	0	broad.mit.edu	37	5	140432292	140432292	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr5:140432292G>T	ENST00000306549.3	+	1	1314	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		413	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGGATCGGGAGGAGGTCTC	0.458													29	104	---	---	---	---	0	0
SND1	27044	broad.mit.edu	37	7	127343360	127343360	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr7:127343360G>T	ENST00000354725.3	+	7	1017	c.823G>T	c.(823-825)Ggt>Tgt	p.G275C		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	275	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GAACATTCTGGGTACCATCCT	0.488													7	35	---	---	---	---	0	0
FAM135B	51059	broad.mit.edu	37	8	139144959	139144959	+	Silent	SNP	C	C	A			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr8:139144959C>A	ENST00000395297.1	-	20	4268	c.4098G>T	c.(4096-4098)gtG>gtT	p.V1366V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1366										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGCGTGGAACACGTTGTGTC	0.532										HNSCC(54;0.14)			10	275	---	---	---	---	0	0
RAB38	23682	broad.mit.edu	37	11	87847227	87847227	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr11:87847227C>T	ENST00000243662.6	-	3	647	c.565G>A	c.(565-567)Gag>Aag	p.E189K	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	189					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACGTCCGGCTCAATAGACTCC	0.463													12	104	---	---	---	---	0	0
ACAD10	80724	broad.mit.edu	37	12	112153743	112153743	+	Silent	SNP	C	C	T	rs112990162	byFrequency	TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr12:112153743C>T	ENST00000455480.2	+	8	1239	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Silent_p.A323A|ACAD10_ENST00000313698.4_Silent_p.A323A	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	323							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTCCATCTGCCCATGCCATAG	0.517													6	132	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9061807	9061807	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr19:9061807C>G	ENST00000397910.4	-	3	25842	c.25639G>C	c.(25639-25641)Gtg>Ctg	p.V8547L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8549	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCATGGCACATCTCCAGGA	0.498													7	29	---	---	---	---	0	0
SPTBN4	57731	broad.mit.edu	37	19	41078060	41078060	+	Silent	SNP	T	T	C			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr19:41078060T>C	ENST00000352632.3	+	34	7541	c.7455T>C	c.(7453-7455)gcT>gcC	p.A2485A	SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Silent_p.A1228A|SPTBN4_ENST00000598249.1_Silent_p.A2485A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2485	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGAGGTGGCTAGTGACTACA	0.607													6	121	---	---	---	---	0	0
SIM2	6493	broad.mit.edu	37	21	38098585	38098585	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chr21:38098585A>G	ENST00000290399.6	+	6	1322	c.709A>G	c.(709-711)Agc>Ggc	p.S237G	SIM2_ENST00000430056.3_Missense_Mutation_p.S237G	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	237	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTTCAGGGCCAGCCTTGACCT	0.582													4	26	---	---	---	---	0	0
SSX5	6758	broad.mit.edu	37	X	48054447	48054447	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chrX:48054447G>A	ENST00000311798.1	-	3	240	c.188C>T	c.(187-189)gCt>gTt	p.A63V	SSX5_ENST00000347757.1_Intron|SSX5_ENST00000376923.1_Intron	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						ACCTACCCTAGCTTCTCCCCT	0.537													6	15	---	---	---	---	0	0
HCFC1	3054	broad.mit.edu	37	X	153216820	153216820	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7AV-01A-11D-A32B-08	TCGA-KK-A7AV-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f3b9e81-6a08-4d69-9cfa-8a6b2debb441	ac932a61-4c1c-4987-96e1-97364aca3e20	g.chrX:153216820T>C	ENST00000310441.7	-	22	6464	c.5498A>G	c.(5497-5499)gAt>gGt	p.D1833G	HCFC1_ENST00000369984.4_Missense_Mutation_p.D1878G|HCFC1_ENST00000354233.3_Missense_Mutation_p.D1764G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1833					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACAGCATCATCTGGTGGCAG	0.542													5	128	---	---	---	---	0	0
MACF1	23499	broad.mit.edu	37	1	39750842	39750842	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr1:39750842A>T	ENST00000564288.1	+	12	1996	c.1219A>T	c.(1219-1221)Atg>Ttg	p.M407L	MACF1_ENST00000372915.3_Missense_Mutation_p.M412L|MACF1_ENST00000539005.1_Missense_Mutation_p.M412L|MACF1_ENST00000317713.7_Missense_Mutation_p.M412L|MACF1_ENST00000545844.1_Missense_Mutation_p.M412L|MACF1_ENST00000361689.2_Missense_Mutation_p.M412L|MACF1_ENST00000567887.1_Missense_Mutation_p.M444L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	412					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATCATAGAGATGCTGGAACG	0.473													26	82	---	---	---	---	0	0
USP33	23032	broad.mit.edu	37	1	78187835	78187835	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr1:78187835G>T	ENST00000370793.1	-	14	1875	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H	USP33_ENST00000370792.3_Missense_Mutation_p.P510H|USP33_ENST00000370794.3_Missense_Mutation_p.P479H|USP33_ENST00000357428.1_Missense_Mutation_p.P510H	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	510					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTCCTTGCCAGGAATTGGCAA	0.408													6	92	---	---	---	---	0	0
ALK	238	broad.mit.edu	37	2	29498076	29498076	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr2:29498076T>C	ENST00000389048.3	-	11	2836	c.1930A>G	c.(1930-1932)Atc>Gtc	p.I644V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	644					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTCTGCAGGATCTTGTCCTCT	0.498			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	52	---	---	---	---	0	0
LPHN3	23284	broad.mit.edu	37	4	62800613	62800613	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:62800613G>A	ENST00000512091.2	+	13	2711	c.1964G>A	c.(1963-1965)aGa>aAa	p.R655K	LPHN3_ENST00000511324.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506746.1_Missense_Mutation_p.R723K|LPHN3_ENST00000504896.1_Missense_Mutation_p.R655K|LPHN3_ENST00000508946.1_Missense_Mutation_p.R655K|LPHN3_ENST00000508693.1_Missense_Mutation_p.R723K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000509896.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506700.1_Missense_Mutation_p.R655K|LPHN3_ENST00000514591.1_Missense_Mutation_p.R655K|LPHN3_ENST00000545650.1_Missense_Mutation_p.R655K|LPHN3_ENST00000507164.1_Missense_Mutation_p.R723K|LPHN3_ENST00000514996.1_Missense_Mutation_p.R655K|LPHN3_ENST00000514157.1_Missense_Mutation_p.R655K|LPHN3_ENST00000506720.1_Missense_Mutation_p.R723K|LPHN3_ENST00000507625.1_Missense_Mutation_p.R723K			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AATGCATGGAGAGACCTGACT	0.483													5	35	---	---	---	---	0	0
AADAT	51166	broad.mit.edu	37	4	170988533	170988533	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:170988533T>C	ENST00000337664.4	-	9	1183	c.907A>G	c.(907-909)Ata>Gta	p.I303V	AADAT_ENST00000509167.1_Missense_Mutation_p.I307V|AADAT_ENST00000353187.2_Missense_Mutation_p.I303V|AADAT_ENST00000515480.1_Missense_Mutation_p.I303V	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	303					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGCTGTGATATCATGAGCTAA	0.333													14	35	---	---	---	---	0	0
RBM27	54439	broad.mit.edu	37	5	145641086	145641086	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr5:145641086G>T	ENST00000265271.5	+	13	2073	c.1907G>T	c.(1906-1908)gGt>gTt	p.G636V	RBM27_ENST00000506502.1_Missense_Mutation_p.G581V	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	636	RRM.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTTTAAGGGTGACCCAGAA	0.368													4	65	---	---	---	---	0	0
RPL10A	4736	broad.mit.edu	37	6	35437258	35437258	+	Nonsense_Mutation	SNP	G	G	T	rs11266793		TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr6:35437258G>T	ENST00000322203.6	+	4	289	c.262G>T	c.(262-264)Gag>Tag	p.E88*	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	88					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						CATGGACATCGAGGCGCTGAA	0.552													9	22	---	---	---	---	0	0
PHF14	9678	broad.mit.edu	37	7	11075358	11075358	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr7:11075358C>T	ENST00000403050.3	+	8	1999	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	PHF14_ENST00000445996.2_Missense_Mutation_p.S231F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	516							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GCTCTACAGTCCTATTGTAAA	0.368													37	135	---	---	---	---	0	0
MTMR6	9107	broad.mit.edu	37	13	25848214	25848214	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr13:25848214T>C	ENST00000381801.5	-	2	897	c.136A>G	c.(136-138)Acc>Gcc	p.T46A	MTMR6_ENST00000540661.1_Missense_Mutation_p.T46A	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	46						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CTTACCCAGGTTTCTTTTTGA	0.338													27	73	---	---	---	---	0	0
RTF1	23168	broad.mit.edu	37	15	41769659	41769659	+	Silent	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr15:41769659C>T	ENST00000389629.4	+	14	1698	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	562					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CCCACAGTTACATCAACCAGC	0.458													22	64	---	---	---	---	0	0
KRT12	3859	broad.mit.edu	37	17	39021060	39021060	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:39021060C>A	ENST00000251643.4	-	3	828	c.805G>T	c.(805-807)Gat>Tat	p.D269Y		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	269	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TGACTCACATCCTCGTGGTTC	0.507													18	106	---	---	---	---	0	0
JUP	3728	broad.mit.edu	37	17	39915087	39915087	+	Silent	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:39915087G>A	ENST00000393931.3	-	9	1651	c.1533C>T	c.(1531-1533)tgC>tgT	p.C511C	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.C511C|JUP_ENST00000310706.5_Silent_p.C511C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	511					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGTTGGCTGGGCACAGGGCCA	0.622													3	11	---	---	---	---	0	0
C17orf47	284083	broad.mit.edu	37	17	56620062	56620062	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:56620062G>A	ENST00000321691.3	-	1	1667	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	496										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACTCAGTGGTGCCCAACTT	0.493													17	330	---	---	---	---	0	0
HEATR6	63897	broad.mit.edu	37	17	58143748	58143748	+	Splice_Site	SNP	C	C	T			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr17:58143748C>T	ENST00000184956.6	-	9	1255		c.e9-1		HEATR6_ENST00000585976.1_Splice_Site	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6								binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTGGTAAGACCTTTCATAACC	0.284													5	19	---	---	---	---	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904874	180904874	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:180904874C>G	ENST00000367588.4	+	5	1884	c.1829C>G	c.(1828-1830)tCt>tGt	p.S610C	KIAA1614_ENST00000367587.1_Missense_Mutation_p.S231C	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	610										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GAGGTGGACTCTGCCCTGGAC	0.652													11	21	---	---	---	---	0	0
KIAA1614	57710	broad.mit.edu	37	1	180905490	180905490	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:180905490A>C	ENST00000367588.4	+	5	2500	c.2445A>C	c.(2443-2445)aaA>aaC	p.K815N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K436N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	815										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTTCGAGGAAAACCACCTCGC	0.617													14	28	---	---	---	---	0	0
SULT1C3	442038	broad.mit.edu	37	2	108869816	108869816	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:108869816T>C	ENST00000329106.2	+	3	317	c.317T>C	c.(316-318)cTt>cCt	p.L106P	SULT1C3_ENST00000376700.1_Missense_Mutation_p.L106P	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	106						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GAGTTCGTTCTTGAAATGTCC	0.363													12	45	---	---	---	---	0	0
HS6ST1	9394	broad.mit.edu	37	2	129075918	129075918	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:129075918C>T	ENST00000259241.6	-	1	233	c.220G>A	c.(220-222)Gag>Aag	p.E74K	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	74					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CGCTCCAGCTCGCGGACCGGG	0.692													5	22	---	---	---	---	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190015	209190015	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr2:209190015T>G	ENST00000264380.4	+	20	2638	c.2480T>G	c.(2479-2481)tTt>tGt	p.F827C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	827					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACACTGATGTTTTTTGAAGGT	0.388													12	27	---	---	---	---	0	0
QRICH1	54870	broad.mit.edu	37	3	49069649	49069649	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr3:49069649G>C	ENST00000395443.2	-	9	2577	c.2105C>G	c.(2104-2106)cCc>cGc	p.P702R	QRICH1_ENST00000424300.1_Missense_Mutation_p.P702R|QRICH1_ENST00000357496.2_Missense_Mutation_p.P702R	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	702								p.P702L(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGCTTGATGGGACATCTCAA	0.453													9	62	---	---	---	---	0	0
ANKRD50	57182	broad.mit.edu	37	4	125631656	125631656	+	Missense_Mutation	SNP	G	G	T	rs140120480		TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr4:125631656G>T	ENST00000504087.1	-	2	1048	c.11C>A	c.(10-12)cCt>cAt	p.P4H	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	4										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTCTTCCCAAGGATTAGTCAT	0.403													4	168	---	---	---	---	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968133	35968133	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr5:35968133G>T	ENST00000274278.3	-	3	656	c.299C>A	c.(298-300)gCa>gAa	p.A100E	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A100E|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A66E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A46E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	100						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCATCCAATGCTGTTTCTAT	0.328													10	21	---	---	---	---	0	0
SLIT3	6586	broad.mit.edu	37	5	168176626	168176626	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr5:168176626T>C	ENST00000519560.1	-	19	2407	c.1988A>G	c.(1987-1989)aAc>aGc	p.N663S	SLIT3_ENST00000404867.3_Missense_Mutation_p.N663S|SLIT3_ENST00000332966.8_Missense_Mutation_p.N663S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	663	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGAAGGGGTTGGACAGGAG	0.587													28	62	---	---	---	---	0	0
MGAM	8972	broad.mit.edu	37	7	141758013	141758013	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr7:141758013G>A	ENST00000475668.2	+	31	3758	c.3704G>A	c.(3703-3705)cGg>cAg	p.R1235Q	MGAM_ENST00000549489.2_Missense_Mutation_p.R1235Q			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1235	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGATTGGCCGGCCTGTGATG	0.438													4	262	---	---	---	---	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18474243	18474243	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr9:18474243C>G	ENST00000380548.4	+	1	352	c.13C>G	c.(13-15)Cgt>Ggt	p.R5G	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R5G	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	5						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAATGCTGCCGTCGGGCAAC	0.507													39	52	---	---	---	---	0	0
MUSK	4593	broad.mit.edu	37	9	113431241	113431241	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr9:113431241C>A	ENST00000416899.2	+	1	183	c.57C>A	c.(55-57)agC>agA	p.S19R	MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.S19R|MUSK_ENST00000374448.4_Missense_Mutation_p.S19R			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	19					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTGCCTTCAGCGGAACTGAGA	0.443													46	147	---	---	---	---	0	0
DKK1	22943	broad.mit.edu	37	10	54074801	54074801	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr10:54074801G>A	ENST00000373970.3	+	2	501	c.362G>A	c.(361-363)tGc>tAc	p.C121Y	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	121	DKK-type Cys-1.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CGAAAACGCTGCATGCGTCAC	0.572											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	34	---	---	---	---	0	0
KL	9365	broad.mit.edu	37	13	33635172	33635172	+	Silent	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr13:33635172C>A	ENST00000380099.3	+	4	1964	c.1956C>A	c.(1954-1956)gcC>gcA	p.A652A	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	652	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCTCCTGGCCAGGCAGGGCG	0.622													10	48	---	---	---	---	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089515	115089515	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr13:115089515A>T	ENST00000361283.1	+	3	507	c.198A>T	c.(196-198)aaA>aaT	p.K66N		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	66					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										ACTGCCATAAATGCTTCTTCA	0.378													12	21	---	---	---	---	0	0
PDZD9	255762	broad.mit.edu	37	16	21995951	21995951	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr16:21995951A>T	ENST00000286143.6	-	5	567	c.246T>A	c.(244-246)gaT>gaA	p.D82E	PDZD9_ENST00000537222.2_Missense_Mutation_p.D84E|PDZD9_ENST00000424898.2_Missense_Mutation_p.D144E			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	144	PDZ.									breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TGAAAGATTCATCTTTTGCCA	0.338													7	36	---	---	---	---	0	0
DEF8	54849	broad.mit.edu	37	16	90027430	90027430	+	Silent	SNP	G	G	C			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr16:90027430G>C	ENST00000563594.1	+	7	1603	c.606G>C	c.(604-606)ctG>ctC	p.L202L	DEF8_ENST00000567874.1_Silent_p.L142L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000563795.1_Silent_p.L202L|DEF8_ENST00000268676.7_Silent_p.L263L|DEF8_ENST00000570182.1_Silent_p.L192L|DEF8_ENST00000569453.1_Silent_p.L202L	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	263					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AATACGAACTGAACATCTGCC	0.577													43	104	---	---	---	---	0	0
C17orf85	55421	broad.mit.edu	37	17	3716470	3716470	+	Silent	SNP	C	C	T			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:3716470C>T	ENST00000158149.3	-	14	1786	c.891G>A	c.(889-891)ctG>ctA	p.L297L	C17orf85_ENST00000389005.4_Silent_p.L577L			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	577							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATGCCCTTTGCAGCTCAGAGT	0.502													4	126	---	---	---	---	0	0
TMEM132E	124842	broad.mit.edu	37	17	32961959	32961959	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:32961959C>G	ENST00000321639.5	+	8	1888	c.1560C>G	c.(1558-1560)gaC>gaG	p.D520E		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	520						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGGGCACTGACCAGGTGGTCA	0.632													15	47	---	---	---	---	0	0
MPO	4353	broad.mit.edu	37	17	56348167	56348167	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr17:56348167C>A	ENST00000340482.3	-	11	2360	c.2184G>T	c.(2182-2184)caG>caT	p.Q728H	MPO_ENST00000225275.3_Missense_Mutation_p.Q696H			P05164	PERM_HUMAN	myeloperoxidase	696					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCAATGAGATCTGGGCCAGGG	0.537													14	44	---	---	---	---	0	0
BRWD1	54014	broad.mit.edu	37	21	40596364	40596364	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr21:40596364G>A	ENST00000342449.3	-	29	3430	c.3352C>T	c.(3352-3354)Cca>Tca	p.P1118S	BRWD1_ENST00000380800.3_Missense_Mutation_p.P1118S|BRWD1_ENST00000333229.2_Missense_Mutation_p.P1118S	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATGTCCCATGGGCTAAGTTTT	0.294													33	53	---	---	---	---	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396002	101396002	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chrX:101396002G>A	ENST00000372774.3	-	3	551	c.302C>T	c.(301-303)cCg>cTg	p.P101L	TCEAL6_ENST00000372773.1_Missense_Mutation_p.P101L	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.P101L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ATCTCCAGCCGGGCGCTTTTC	0.612													16	79	---	---	---	---	0	0
MBNL3	55796	broad.mit.edu	37	X	131516262	131516262	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chrX:131516262C>A	ENST00000538204.1	-	6	876	c.811G>T	c.(811-813)Gca>Tca	p.A271S	RAP2C-AS1_ENST00000441399.2_RNA|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370849.3_Missense_Mutation_p.A283S|MBNL3_ENST00000370857.3_Missense_Mutation_p.A321S|MBNL3_ENST00000370839.3_Missense_Mutation_p.A298S|MBNL3_ENST00000370844.1_Missense_Mutation_p.A237S|MBNL3_ENST00000370853.3_Missense_Mutation_p.A333S|MBNL3_ENST00000394311.2_Missense_Mutation_p.A237S	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	333					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GTTGTTGCTGCAGACACAGTG	0.468													44	30	---	---	---	---	0	0
TFAP2E	339488	broad.mit.edu	37	1	36055549	36055549	+	Silent	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:36055549G>A	ENST00000373235.3	+	5	1012	c.804G>A	c.(802-804)ggG>ggA	p.G268G		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	268						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCAAAAATGGGGGCCGGTGTT	0.547													7	51	---	---	---	---	0	0
FAM102B	284611	broad.mit.edu	37	1	109170825	109170825	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:109170825T>G	ENST00000370035.3	+	7	933	c.593T>G	c.(592-594)cTt>cGt	p.L198R	FAM102B_ENST00000405454.1_Missense_Mutation_p.L198R	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	198										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CCAGACGAACTTGGTGCCTGT	0.378													30	41	---	---	---	---	0	0
IER5	51278	broad.mit.edu	37	1	181058365	181058365	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:181058365C>G	ENST00000367577.4	+	1	728	c.327C>G	c.(325-327)gaC>gaG	p.D109E		NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	109										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CCGTCTCAGACGCGCCGCGGG	0.761													4	13	---	---	---	---	0	0
CNPPD1	27013	broad.mit.edu	37	2	220038176	220038176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr2:220038176G>A	ENST00000409789.1	-	8	1013	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	CNPPD1_ENST00000360507.5_Nonsense_Mutation_p.Q196*			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	196					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CACCGTCCCTGCTGCTCAGCC	0.627													14	29	---	---	---	---	0	0
TRIM35	23087	broad.mit.edu	37	8	27151801	27151801	+	Silent	SNP	C	C	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr8:27151801C>A	ENST00000305364.4	-	3	641	c.558G>T	c.(556-558)cgG>cgT	p.R186R	TRIM35_ENST00000521253.1_Silent_p.R154R	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	186					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCTGCCGGATCCGGCCTTCCA	0.562													3	19	---	---	---	---	0	0
OR13C3	138803	broad.mit.edu	37	9	107298274	107298274	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr9:107298274T>A	ENST00000374781.2	-	1	863	c.821A>T	c.(820-822)cAc>cTc	p.H274L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CACAGTCAGGTGAGCTGAGCA	0.423													54	108	---	---	---	---	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250534	18250534	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr10:18250534C>A	ENST00000377369.2	+	3	559	c.286C>A	c.(286-288)Cta>Ata	p.L96I	SLC39A12_ENST00000377374.4_Missense_Mutation_p.L96I|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L96I	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	96					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGCACTATTACTAATAGCTGG	0.373													36	61	---	---	---	---	0	0
RET	5979	broad.mit.edu	37	10	43622119	43622119	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr10:43622119G>T	ENST00000355710.3	+	19	3368	c.3136G>T	c.(3136-3138)Gcc>Tcc	p.A1046S	RET_ENST00000340058.5_Missense_Mutation_p.A1046S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1046					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGTAATAATGCCCCCCTCCC	0.527		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				36	55	---	---	---	---	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065162	63065162	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr11:63065162G>A	ENST00000544661.1	+	5	756	c.328G>A	c.(328-330)Gcg>Acg	p.A110T	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Missense_Mutation_p.A55T|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.A265T			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	265						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCACGTGGTGGCGTCTGTACC	0.453													40	75	---	---	---	---	0	0
GUCY2C	2984	broad.mit.edu	37	12	14798210	14798210	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:14798210A>C	ENST00000261170.3	-	16	1886	c.1750T>G	c.(1750-1752)Ttc>Gtc	p.F584V		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	584	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CAATCCATGAATGTGCCATCA	0.333													34	78	---	---	---	---	0	0
C12orf71	728858	broad.mit.edu	37	12	27234319	27234319	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:27234319C>T	ENST00000429849.2	-	2	628	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	200										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAAGGAGTGTCATCCTTCTCT	0.562													11	74	---	---	---	---	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638934	56638934	+	Silent	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:56638934C>T	ENST00000267116.7	-	22	2566	c.2445G>A	c.(2443-2445)ccG>ccA	p.P815P		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	815							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGTACGAAAACGGGCTGTGTT	0.522													6	141	---	---	---	---	0	0
CS	1431	broad.mit.edu	37	12	56667436	56667436	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:56667436A>C	ENST00000548567.1	-	11	1437	c.967T>G	c.(967-969)Tta>Gta	p.L323V	CS_ENST00000351328.3_Missense_Mutation_p.L389V|CS_ENST00000542324.2_Missense_Mutation_p.L376V			O75390	CISY_HUMAN	citrate synthase	389					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCCTGCTCTAAGAGGACATTG	0.488													4	66	---	---	---	---	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102442099	102442099	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr14:102442099A>G	ENST00000360184.4	+	2	471	c.307A>G	c.(307-309)Atc>Gtc	p.I103V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	103	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCCTATAACATCAACATAGA	0.279													28	45	---	---	---	---	0	0
TPSG1	25823	broad.mit.edu	37	16	1271955	1271955	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr16:1271955G>A	ENST00000234798.4	-	6	803	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C		NM_012467.3	NP_036599	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	267	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GTGATGTGGCGGCGGATCCAG	0.662													11	16	---	---	---	---	0	0
ACSM2B	348158	broad.mit.edu	37	16	20563466	20563466	+	Splice_Site	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr16:20563466C>T	ENST00000329697.6	-	6	1062	c.894G>A	c.(892-894)aaG>aaA	p.K298K	ACSM2B_ENST00000567001.1_Splice_Site_p.K298K|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Splice_Site_p.K298K|ACSM2B_ENST00000565322.1_Splice_Site_p.K219K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	298					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTCTCTTACCTTTAGAATAA	0.393													16	151	---	---	---	---	0	0
COG1	9382	broad.mit.edu	37	17	71193480	71193480	+	Silent	SNP	G	G	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr17:71193480G>T	ENST00000299886.4	+	4	938	c.858G>T	c.(856-858)ctG>ctT	p.L286L		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	286					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			ATCCAGCCCTGCCATGTGGCT	0.512													24	105	---	---	---	---	0	0
ZNF337	26152	broad.mit.edu	37	20	25657357	25657357	+	Silent	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr20:25657357G>A	ENST00000376436.1	-	4	1106	c.567C>T	c.(565-567)ttC>ttT	p.F189F	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F157F|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F189F					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTCCGGCTGAAGTCTTGCC	0.433													5	219	---	---	---	---	0	0
HTR2C	3358	broad.mit.edu	37	X	113965814	113965814	+	Silent	SNP	A	A	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chrX:113965814A>C	ENST00000276198.1	+	4	875	c.147A>C	c.(145-147)ccA>ccC	p.P49P	HTR2C_ENST00000371950.3_Silent_p.P49P|HTR2C_ENST00000371951.1_Silent_p.P49P	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	49					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TCAAATTCCCAGACGGGGTAC	0.433													8	73	---	---	---	---	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964584	119964584	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr1:119964584T>C	ENST00000543831.1	+	4	709	c.460T>C	c.(460-462)Tac>Cac	p.Y154H	HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y154H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	154					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GCCCACTCCATACCCGTACAG	0.507													59	110	---	---	---	---	0	0
TTL	150465	broad.mit.edu	37	2	113260504	113260504	+	Silent	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr2:113260504G>A	ENST00000233336.6	+	5	812	c.621G>A	c.(619-621)gtG>gtA	p.V207V		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase		TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GGGTCTTGGTGGATCATCAGT	0.388			T	ETV6	ALL								13	39	---	---	---	---	0	0
HMGCS1	3157	broad.mit.edu	37	5	43296014	43296014	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr5:43296014T>A	ENST00000325110.6	-	6	951	c.745A>T	c.(745-747)Aat>Tat	p.N249Y	HMGCS1_ENST00000433297.2_Missense_Mutation_p.N249Y	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	249					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TCTTTATCATTTCCCTCTGAA	0.318													4	59	---	---	---	---	0	0
ZNF300P1	0	broad.mit.edu	37	5	150322149	150322149	+	RNA	SNP	A	A	G			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr5:150322149A>G	ENST00000520773.1	-	0	1335																											CCAGCATCACATCCCTGTACA	0.502													12	57	---	---	---	---	0	0
PRIM2	5558	broad.mit.edu	37	6	57372333	57372333	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr6:57372333C>A	ENST00000607273.1	+	8	826	c.739C>A	c.(739-741)Cag>Aag	p.Q247K	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	247					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TGAAAGACTTCAGCCTCTGCT	0.403													4	41	---	---	---	---	0	0
TRGV2	0	broad.mit.edu	37	7	38402925	38402925	+	RNA	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr7:38402925T>C	ENST00000426402.2	-	0	194																											TAGGGCCCACTGCATGCCTTC	0.507													4	65	---	---	---	---	0	0
FEZF1	389549	broad.mit.edu	37	7	121942294	121942294	+	Silent	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr7:121942294G>A	ENST00000442488.2	-	4	1252	c.1185C>T	c.(1183-1185)aaC>aaT	p.N395N	FEZF1_ENST00000331178.4_Silent_p.N391N|FEZF1_ENST00000427185.2_Silent_p.N345N	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	395					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCTTCTTGTCGTTGTGGGTGT	0.547													5	113	---	---	---	---	0	0
SIPA1	6494	broad.mit.edu	37	11	65413798	65413798	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:65413798T>C	ENST00000394224.3	+	7	1666	c.1370T>C	c.(1369-1371)gTg>gCg	p.V457A	SIPA1_ENST00000534313.1_Missense_Mutation_p.V457A|SIPA1_ENST00000394227.3_Missense_Mutation_p.V457A|SIPA1_ENST00000527525.1_Missense_Mutation_p.V457A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	457	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TTCCAGCACGTGTTCCTAGTG	0.642													8	44	---	---	---	---	0	0
CAPN5	726	broad.mit.edu	37	11	76823690	76823690	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:76823690C>T	ENST00000278559.3	+	4	542	c.353C>T	c.(352-354)gCg>gTg	p.A118V	CAPN5_ENST00000456580.2_Missense_Mutation_p.A158V|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.A118V	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	118	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AACGCCTACGCGGGCATCTTC	0.612													8	52	---	---	---	---	0	0
NXPE4	54827	broad.mit.edu	37	11	114450926	114450926	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:114450926C>T	ENST00000375478.3	-	5	1207	c.1027G>A	c.(1027-1029)Gga>Aga	p.G343R	NXPE4_ENST00000424261.2_Missense_Mutation_p.G59R	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		ATGAGTTTTCCTCTCAGGCAT	0.443													17	83	---	---	---	---	0	0
AVPR1A	0	broad.mit.edu	37	12	63544328	63544328	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr12:63544328C>A	ENST00000299178.2	-	1	394	c.289G>T	c.(289-291)Gac>Tac	p.D97Y		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	97					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACGGCCAGGTCGGCCAGGCTG	0.667													8	20	---	---	---	---	0	0
RASSF9	9182	broad.mit.edu	37	12	86198925	86198925	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr12:86198925T>C	ENST00000361228.3	-	2	1231	c.863A>G	c.(862-864)gAa>gGa	p.E288G		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	288					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TACCTCTTTTTCTATTTCAGC	0.398													21	97	---	---	---	---	0	0
STAB2	55576	broad.mit.edu	37	12	104056648	104056648	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr12:104056648G>A	ENST00000388887.2	+	18	2098	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	632	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATGATGTGGCAATGGAAGA	0.458													10	74	---	---	---	---	0	0
BMP4	652	broad.mit.edu	37	14	54416914	54416914	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr14:54416914C>T	ENST00000245451.4	-	4	1456	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	BMP4_ENST00000559087.1_Missense_Mutation_p.A355T|BMP4_ENST00000558984.1_Missense_Mutation_p.A355T|BMP4_ENST00000417573.1_Missense_Mutation_p.A355T	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	355					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGCACAATGGCATGGTTGGTT	0.547													37	54	---	---	---	---	0	0
IGHJ5	0	broad.mit.edu	37	14	106330052	106330052	+	RNA	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr14:106330052G>A	ENST00000488476.1	-	0	20																											GGGTTCCCTGGCCCCAGGGGT	0.617													3	8	---	---	---	---	0	0
KRT27	342574	broad.mit.edu	37	17	38936677	38936677	+	Missense_Mutation	SNP	C	C	T	rs116334559	by1000genomes	TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr17:38936677C>T	ENST00000301656.3	-	3	599	c.559G>A	c.(559-561)Gtg>Atg	p.V187M		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	187	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.V187M(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCCGCCTCCACGCTCTGGTGA	0.468													7	20	---	---	---	---	0	0
AXL	558	broad.mit.edu	37	19	41758339	41758339	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr19:41758339A>G	ENST00000301178.4	+	15	1985	c.1795A>G	c.(1795-1797)Agg>Ggg	p.R599G	AXL_ENST00000359092.3_Missense_Mutation_p.R590G|AXL_ENST00000593513.1_Missense_Mutation_p.R331G	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	599	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CAACGTCATGAGGCTCATCGG	0.552													5	36	---	---	---	---	0	0
KLK12	43849	broad.mit.edu	37	19	51534119	51534119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr19:51534119G>T	ENST00000250352.11	-	4	859	c.186C>A	c.(184-186)tgC>tgA	p.C62*	KLK12_ENST00000250351.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000529888.1_Missense_Mutation_p.P86T|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000525263.1_Nonsense_Mutation_p.C172*			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	172	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACACACCATGGCAGGTGGCAT	0.622													8	121	---	---	---	---	0	0
C20orf26	26074	broad.mit.edu	37	20	20232251	20232251	+	Silent	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr20:20232251T>C	ENST00000245957.5	+	20	2248	c.2172T>C	c.(2170-2172)aaT>aaC	p.N724N	C20orf26_ENST00000377309.2_Silent_p.N80N|C20orf26_ENST00000389656.3_Silent_p.N80N|C20orf26_ENST00000377293.1_Silent_p.N80N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	724										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTGTTTTAATGATAAAGATT	0.488													17	170	---	---	---	---	0	0
GRIK3	2899	broad.mit.edu	37	1	37346388	37346388	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr1:37346388T>G	ENST00000373091.3	-	3	413	c.397A>C	c.(397-399)Atc>Ctc	p.I133L	GRIK3_ENST00000373093.4_Missense_Mutation_p.I133L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	133					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGCAGCTGGATGTGGGGCACC	0.622													20	38	---	---	---	---	0	0
NRD1	4898	broad.mit.edu	37	1	52280418	52280418	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr1:52280418C>T	ENST00000354831.7	-	14	1900	c.1711G>A	c.(1711-1713)Gtg>Atg	p.V571M	NRD1_ENST00000539524.1_Missense_Mutation_p.V439M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.V503M|NRD1_ENST00000544028.1_Missense_Mutation_p.V371M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	502					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATGCTGAACACTGAATAAGTA	0.353													12	18	---	---	---	---	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657386	40657386	+	Missense_Mutation	SNP	G	G	C	rs142661656	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:40657386G>C	ENST00000406785.2	-	2	224	c.35C>G	c.(34-36)aCc>aGc	p.T12S	SLC8A1_ENST00000332839.4_Missense_Mutation_p.T12S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T12S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T12S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATTGAAAAGGTGGGTGAAAG	0.408													9	30	---	---	---	---	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125281979	125281979	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:125281979C>T	ENST00000431078.1	+	9	1788	c.1424C>T	c.(1423-1425)cCa>cTa	p.P475L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	475	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCCGGCTCCAGACAGCACT	0.483													6	27	---	---	---	---	0	0
UBXN4	23190	broad.mit.edu	37	2	136527363	136527363	+	Silent	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:136527363G>A	ENST00000272638.9	+	7	938	c.627G>A	c.(625-627)agG>agA	p.R209R	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	209					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTGAAGAAAGGAGAGAAGAGA	0.303													6	32	---	---	---	---	0	0
GIGYF2	26058	broad.mit.edu	37	2	233677165	233677165	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr2:233677165A>G	ENST00000373566.3	+	19	2334	c.2137A>G	c.(2137-2139)Atc>Gtc	p.I713V	GIGYF2_ENST00000409480.1_Missense_Mutation_p.I713V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I691V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.I691V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.I522V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I685V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I712V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	691	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TACTGGCTCTATCTGGGAGCT	0.383													5	26	---	---	---	---	0	0
XIRP1	165904	broad.mit.edu	37	3	39225934	39225934	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr3:39225934G>A	ENST00000340369.3	-	2	5231	c.5003C>T	c.(5002-5004)tCc>tTc	p.S1668F	XIRP1_ENST00000421646.1_Missense_Mutation_p.S351F|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1668							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTTGGGGAGGAGGGAGAATC	0.537													13	61	---	---	---	---	0	0
PRSS48	345062	broad.mit.edu	37	4	152212552	152212552	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr4:152212552T>G	ENST00000455694.2	+	5	936	c.934T>G	c.(934-936)Tgc>Ggc	p.C312G	PRSS48_ENST00000441586.2_Missense_Mutation_p.C169G|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	312					proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						AGCTGTTGCTTGCATACAGGG	0.498													13	23	---	---	---	---	0	0
TCERG1	10915	broad.mit.edu	37	5	145890149	145890149	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr5:145890149C>G	ENST00000296702.5	+	22	3279	c.3241C>G	c.(3241-3243)Cgg>Ggg	p.R1081G	TCERG1_ENST00000394421.2_Missense_Mutation_p.R1060G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1081					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGATCGCCGGGGTCCACC	0.463													6	30	---	---	---	---	0	0
USP42	84132	broad.mit.edu	37	7	6187373	6187373	+	Silent	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:6187373C>T	ENST00000306177.5	+	12	1394	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	412					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TTTCCAGGTCCCATGATGTGA	0.517													6	26	---	---	---	---	0	0
ZAN	7455	broad.mit.edu	37	7	100371059	100371059	+	RNA	SNP	C	C	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:100371059C>A	ENST00000542585.1	+	0	5725				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGAGTGGAACCTCCTGCGTGC	0.632													13	16	---	---	---	---	0	0
GRM8	0	broad.mit.edu	37	7	126746596	126746596	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr7:126746596A>T	ENST00000339582.2	-	3	1489	c.681T>A	c.(679-681)taT>taA	p.Y227*	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Nonsense_Mutation_p.Y227*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Y227*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Y227*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	227					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CGCTCTCACCATAGTTCCCCT	0.507										HNSCC(24;0.065)			12	26	---	---	---	---	0	0
PIWIL2	55124	broad.mit.edu	37	8	22137065	22137065	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr8:22137065G>A	ENST00000356766.6	+	2	314	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	PIWIL2_ENST00000521356.1_Missense_Mutation_p.E56K|PIWIL2_ENST00000454009.2_Missense_Mutation_p.E56K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	56					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AAAGCCAGAGGAACCAAGCAC	0.562													11	21	---	---	---	---	0	0
YPEL4	219539	broad.mit.edu	37	11	57413471	57413471	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:57413471C>T	ENST00000524669.1	-	5	3089	c.367G>A	c.(367-369)Gac>Aac	p.D123N	AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000300022.3_Missense_Mutation_p.D123N|YPEL4_ENST00000544993.1_Missense_Mutation_p.D123N|YPEL4_ENST00000534711.1_Missense_Mutation_p.D123N			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	123						nucleolus				lung(2)|skin(1)	3						CAGCCGTTGTCCTTCACCATG	0.547													22	33	---	---	---	---	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020726	73020726	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr11:73020726C>T	ENST00000263674.3	+	1	1393	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	348					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGTAGTGGCTCTCCGCCCTGC	0.612													21	39	---	---	---	---	0	0
TM7SF3	51768	broad.mit.edu	37	12	27143491	27143491	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:27143491A>G	ENST00000343028.4	-	6	985	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	254						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATGACATTGTATATGACACCT	0.453													7	52	---	---	---	---	0	0
SLC16A7	9194	broad.mit.edu	37	12	60173227	60173227	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:60173227G>A	ENST00000261187.4	+	5	1368	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	SLC16A7_ENST00000547379.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552432.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E303K	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	402						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.E402*(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TTTAACTGGAGAATATAAATA	0.343													13	30	---	---	---	---	0	0
SOX1	6656	broad.mit.edu	37	13	112722311	112722311	+	Silent	SNP	G	G	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr13:112722311G>A	ENST00000330949.1	+	1	399	c.339G>A	c.(337-339)aaG>aaA	p.K113K		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	113					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TGCACATGAAGGAGCACCCGG	0.677													5	26	---	---	---	---	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42279575	42279575	+	Splice_Site	SNP	T	T	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr15:42279575T>G	ENST00000399518.3	-	17	2318		c.e17-2		PLA2G4E_ENST00000413860.2_Splice_Site|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE						phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCTCGTCTTCTGCAGGGGAGG	0.577													4	12	---	---	---	---	0	0
RGS9BP	388531	broad.mit.edu	37	19	33167292	33167292	+	Silent	SNP	A	A	G			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:33167292A>G	ENST00000334176.3	+	1	980	c.123A>G	c.(121-123)caA>caG	p.Q41Q		NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	41					negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					AGGAGCTGCAAAAGACGCGCC	0.706													7	13	---	---	---	---	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510021	41510021	+	Missense_Mutation	SNP	C	C	A	rs144760726	byFrequency	TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr19:41510021C>A	ENST00000324071.4	+	2	294	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	CYP2B6_ENST00000593831.1_Missense_Mutation_p.S20Y|CYP2B6_ENST00000330446.5_Missense_Mutation_p.S56Y|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	96					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGGCCTTCTCTGGCCGGGGA	0.637													10	49	---	---	---	---	0	0
PCSK2	5126	broad.mit.edu	37	20	17207956	17207956	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr20:17207956G>C	ENST00000262545.2	+	1	321	c.6G>C	c.(4-6)aaG>aaC	p.K2N	PCSK2_ENST00000377899.1_Intron|PCSK2_ENST00000536609.1_Missense_Mutation_p.K2N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	2					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGGATGAAGGGTGGTTGTG	0.532													9	38	---	---	---	---	0	0
BPIFB4	149954	broad.mit.edu	37	20	31680313	31680313	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr20:31680313G>T	ENST00000375483.3	+	9	1193	c.1193G>T	c.(1192-1194)tGg>tTg	p.W398L		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	398						cytoplasm|extracellular region	lipid binding										CCATTGGGGTGGCCAGCTGTG	0.597													9	17	---	---	---	---	0	0
TMEM31	203562	broad.mit.edu	37	X	102968708	102968708	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chrX:102968708T>A	ENST00000319560.6	+	3	480	c.289T>A	c.(289-291)Ttt>Att	p.F97I	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	97						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TTATCCTGAATTTCTTCTGGT	0.463													18	34	---	---	---	---	0	0
CLCA2	9635	broad.mit.edu	37	1	86898058	86898058	+	Silent	SNP	A	A	G	rs141878978	byFrequency	TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr1:86898058A>G	ENST00000370565.4	+	5	753	c.591A>G	c.(589-591)tcA>tcG	p.S197S		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	197					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TTAGGTGTTCATCTGACATCA	0.333													7	87	---	---	---	---	0	0
SPR	6697	broad.mit.edu	37	2	73115592	73115592	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:73115592G>A	ENST00000234454.5	+	2	527	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	152					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						CAACAGAACCGTGGTTAACAT	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	75	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	141232707	141232707	+	Splice_Site	SNP	C	C	T	rs77794732		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:141232707C>T	ENST00000389484.3	-	60	10596	c.9625G>A	c.(9625-9627)Gtc>Atc	p.V3209I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3209					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V3209F(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGACCAACCTTTGTGTCTA	0.289										TSP Lung(27;0.18)			13	89	---	---	---	---	0	0
NEB	4703	broad.mit.edu	37	2	152381049	152381049	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:152381049C>T	ENST00000397345.3	-	152	22556	c.22354G>A	c.(22354-22356)Gca>Aca	p.A7452T	NEB_ENST00000427231.2_Missense_Mutation_p.A7452T|NEB_ENST00000603639.1_Missense_Mutation_p.A7452T|NEB_ENST00000409198.1_Missense_Mutation_p.A5751T|NEB_ENST00000172853.10_Missense_Mutation_p.A5751T|NEB_ENST00000604864.1_Missense_Mutation_p.A7452T	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	5751					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTTTGGCTGCCTGTGTGGCC	0.507													4	129	---	---	---	---	0	0
ABCB11	8647	broad.mit.edu	37	2	169826554	169826554	+	Splice_Site	SNP	C	C	A			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:169826554C>A	ENST00000263817.6	-	15	1934		c.e15+1			NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11						bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTCCACAAACCTTACTCAGC	0.512													4	87	---	---	---	---	0	0
AOX1	316	broad.mit.edu	37	2	201515849	201515849	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:201515849T>G	ENST00000374700.2	+	26	3241	c.3000T>G	c.(2998-3000)aaT>aaG	p.N1000K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1000					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATGCAGAGAATTATTGGAAGA	0.478													10	110	---	---	---	---	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860280	228860280	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr2:228860280C>T	ENST00000392056.3	-	8	4625	c.4579G>A	c.(4579-4581)Gaa>Aaa	p.E1527K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1527K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1527						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGTTGTCTTCCTCATTGGCA	0.572													4	133	---	---	---	---	0	0
GMPPB	29925	broad.mit.edu	37	3	49760869	49760869	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr3:49760869T>G	ENST00000480687.1	-	3	282	c.166A>C	c.(166-168)Atg>Ctg	p.M56L	GMPPB_ENST00000308388.6_Missense_Mutation_p.M56L|GMPPB_ENST00000308375.6_Missense_Mutation_p.M56L|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	56					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCTGCGACATGTAGCTCACG	0.627													10	64	---	---	---	---	0	0
FRAS1	80144	broad.mit.edu	37	4	79254489	79254489	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr4:79254489C>T	ENST00000264895.6	+	19	2641	c.2201C>T	c.(2200-2202)cCt>cTt	p.P734L	FRAS1_ENST00000325942.6_Missense_Mutation_p.P734L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	734					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GACTGTGGGCCTTCCCATGTG	0.522													10	13	---	---	---	---	0	0
TAAR8	83551	broad.mit.edu	37	6	132874168	132874168	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr6:132874168G>T	ENST00000275200.1	+	1	337	c.337G>T	c.(337-339)Gca>Tca	p.A113S		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	113						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTGTGATGTGGCATTTTGTTA	0.478													6	193	---	---	---	---	0	0
RAD54B	25788	broad.mit.edu	37	8	95416419	95416419	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr8:95416419T>C	ENST00000336148.5	-	6	954	c.830A>G	c.(829-831)aAt>aGt	p.N277S		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ACAGTTCTTATTGAATACCCA	0.353								Direct reversal of damage;Homologous recombination					28	58	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113237027	113237027	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr8:113237027G>T	ENST00000297405.5	-	71	11341	c.11097C>A	c.(11095-11097)aaC>aaA	p.N3699K	CSMD3_ENST00000352409.3_Missense_Mutation_p.N3629K|CSMD3_ENST00000343508.3_Missense_Mutation_p.N3659K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3530K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3699						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCGTGTTCAAGTTGGGATCAA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			54	122	---	---	---	---	0	0
PTGS1	5742	broad.mit.edu	37	9	125154632	125154632	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr9:125154632C>T	ENST00000362012.2	+	11	1614	c.1609C>T	c.(1609-1611)Ccc>Tcc	p.P537S	PTGS1_ENST00000223423.4_Missense_Mutation_p.P500S|PTGS1_ENST00000373698.5_Missense_Mutation_p.P428S|PTGS1_ENST00000540753.1_Missense_Mutation_p.P475S	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	537					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CCTAGGGAATCCCATCTGTTC	0.522													6	94	---	---	---	---	0	0
SOHLH1	402381	broad.mit.edu	37	9	138591340	138591340	+	Translation_Start_Site	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr9:138591340C>T	ENST00000298466.5	-	0	34				SOHLH1_ENST00000425225.1_De_novo_Start_InFrame	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1						cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AGCGACCCCACGCGCACGGCC	0.677													5	4	---	---	---	---	0	0
GPR158	57512	broad.mit.edu	37	10	25464746	25464746	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr10:25464746A>C	ENST00000376351.3	+	1	756	c.397A>C	c.(397-399)Acc>Ccc	p.T133P	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	133						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GACACACGCCACCAACTTCCT	0.652													5	78	---	---	---	---	0	0
PTEN	5728	broad.mit.edu	37	10	89692911	89692911	+	Missense_Mutation	SNP	G	G	T	rs121909241		TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr10:89692911G>T	ENST00000371953.3	+	5	1752	c.395G>T	c.(394-396)gGt>gTt	p.G132V		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACGAACTGGTGTAATGATA	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			14	51	---	---	---	---	0	0
TACC2	10579	broad.mit.edu	37	10	123970988	123970988	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr10:123970988T>G	ENST00000369005.1	+	9	7388	c.7048T>G	c.(7048-7050)Ttt>Gtt	p.F2350V	TACC2_ENST00000513429.1_Missense_Mutation_p.F496V|TACC2_ENST00000368999.1_Missense_Mutation_p.F428V|TACC2_ENST00000360561.3_Missense_Mutation_p.F428V|TACC2_ENST00000369000.1_Missense_Mutation_p.F54V|TACC2_ENST00000334433.3_Missense_Mutation_p.F2350V|TACC2_ENST00000369004.3_Missense_Mutation_p.F428V|TACC2_ENST00000453444.2_Missense_Mutation_p.F2354V|TACC2_ENST00000260733.3_Missense_Mutation_p.F428V|TACC2_ENST00000369001.1_Missense_Mutation_p.F54V|TACC2_ENST00000515603.1_Missense_Mutation_p.F2305V|TACC2_ENST00000515273.1_Missense_Mutation_p.F2354V|TACC2_ENST00000358010.1_Missense_Mutation_p.F496V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2350	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTTTAACCCTTTTTCTTCCAC	0.468													22	152	---	---	---	---	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537357	5537357	+	Silent	SNP	G	G	A			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:5537357G>A	ENST00000380184.1	-	1	578	c.315C>T	c.(313-315)ggC>ggT	p.G105G	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	105	Ubiquitin-like.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GAGATCTGGAGCCCTGCTTGG	0.542													6	82	---	---	---	---	0	0
RAG1	5896	broad.mit.edu	37	11	36597054	36597054	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:36597054G>C	ENST00000299440.5	+	2	2312	c.2200G>C	c.(2200-2202)Gat>Cat	p.D734H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	734					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TACTCTTTGTGATGCCACCCG	0.498									Familial Hemophagocytic Lymphohistiocytosis				10	80	---	---	---	---	0	0
PEX16	9409	broad.mit.edu	37	11	45937359	45937359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:45937359C>T	ENST00000241041.3	-	4	271	c.254G>A	c.(253-255)tGg>tAg	p.W85*	PEX16_ENST00000378750.5_Nonsense_Mutation_p.W85*|PEX16_ENST00000532681.1_5'UTR|PEX16_ENST00000532554.1_Intron	NM_004813.2|NM_057174.2	NP_004804.1|NP_476515	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	85					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CACGCTCAGCCATGTCAGCAG	0.632													10	128	---	---	---	---	0	0
OR4A5	81318	broad.mit.edu	37	11	51412102	51412102	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:51412102C>A	ENST00000319760.6	-	1	346	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTATAAATAGCTGGCCCATGC	0.433													21	38	---	---	---	---	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793293	65793293	+	Silent	SNP	G	G	A			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:65793293G>A	ENST00000312106.5	-	1	695	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	186	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ACTCACTGTAGGGATTGGGTC	0.602													5	55	---	---	---	---	0	0
TMEM136	219902	broad.mit.edu	37	11	120198157	120198157	+	Silent	SNP	T	T	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr11:120198157T>C	ENST00000375095.2	+	2	248	c.7T>C	c.(7-9)Tta>Cta	p.L3L	TMEM136_ENST00000529187.1_Silent_p.L25L|TMEM136_ENST00000531346.1_Intron|TMEM136_ENST00000314475.2_Silent_p.L25L	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	3						integral to membrane				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		CAGGATGGCATTAGCTCTGTG	0.448													8	68	---	---	---	---	0	0
CHD4	1108	broad.mit.edu	37	12	6711235	6711235	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr12:6711235T>C	ENST00000309577.6	-	4	492	c.329A>G	c.(328-330)tAt>tGt	p.Y110C	CHD4_ENST00000544040.1_Missense_Mutation_p.Y103C|CHD4_ENST00000357008.2_Missense_Mutation_p.Y110C|CHD4_ENST00000544484.1_Missense_Mutation_p.Y107C			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	110					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCCAGGAGTATAGTCGCTGCC	0.552													9	39	---	---	---	---	0	0
METTL25	84190	broad.mit.edu	37	12	82796857	82796857	+	Silent	SNP	T	T	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr12:82796857T>C	ENST00000248306.3	+	5	1296	c.1227T>C	c.(1225-1227)agT>agC	p.S409S	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		GAGTTTGCAGTGTGGGTTGTT	0.393													7	45	---	---	---	---	0	0
MDGA2	161357	broad.mit.edu	37	14	47600938	47600938	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr14:47600938A>C	ENST00000426342.1	-	5	756	c.10T>G	c.(10-12)Ttt>Gtt	p.F4V	MDGA2_ENST00000439988.3_Missense_Mutation_p.F302V|MDGA2_ENST00000399232.2_Missense_Mutation_p.F233V|MDGA2_ENST00000357362.3_Missense_Mutation_p.F4V	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	233					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GACAGTCTAAACGACACCATC	0.318													32	99	---	---	---	---	0	0
GPR114	221188	broad.mit.edu	37	16	57608859	57608859	+	Silent	SNP	A	A	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr16:57608859A>T	ENST00000340339.4	+	11	1864	c.1341A>T	c.(1339-1341)gcA>gcT	p.A447A	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.A447A	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	447					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GGGCGGATGCACCAAGTGTCA	0.652													4	29	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9085673	9085673	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:9085673T>C	ENST00000397910.4	-	1	6345	c.6142A>G	c.(6142-6144)Atc>Gtc	p.I2048V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2048	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGAAGTGATTGCATTCCTC	0.483													4	115	---	---	---	---	0	0
OR10H3	26532	broad.mit.edu	37	19	15852463	15852463	+	Silent	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:15852463C>T	ENST00000305892.1	+	1	261	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGATCTGCTCTTCACCCATC	0.512													11	294	---	---	---	---	0	0
CTC-260F20.3	0	broad.mit.edu	37	19	19627082	19627082	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:19627082C>T	ENST00000555938.1	+	1	47	c.35C>T	c.(34-36)cCg>cTg	p.P12L	NDUFA13_ENST00000512771.3_Missense_Mutation_p.P12L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.P12L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.P95L|NDUFA13_ENST00000507754.4_Missense_Mutation_p.P12L|YJEFN3_ENST00000608404.1_Missense_Mutation_p.P12L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000503283.1_Missense_Mutation_p.P12L																							GACATGCCTCCGCCGGGGGGC	0.617													16	36	---	---	---	---	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316880	40316880	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I6-01A-11D-A364-08	TCGA-KK-A8I6-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09465a0-6766-4401-8ab3-1f7b0ba892cd	05ab92d0-9cba-4cd0-9f18-31dd0ef37394	g.chr19:40316880G>C	ENST00000593685.1	-	10	1926	c.1458C>G	c.(1456-1458)agC>agG	p.S486R	DYRK1B_ENST00000348817.3_Missense_Mutation_p.S458R|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S458R|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S486R|DYRK1B_ENST00000430012.2_Missense_Mutation_p.S446R			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	486	Interaction with RANBP9.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AATATCGGTTGCTGTAGCGGT	0.612													25	42	---	---	---	---	0	0
AGPS	8540	broad.mit.edu	37	2	178386036	178386036	+	Silent	SNP	C	C	T			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr2:178386036C>T	ENST00000264167.4	+	18	1883	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	579					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GTATCTACTTCTATTTTGCCT	0.388													33	75	---	---	---	---	0	0
CCSER1	401145	broad.mit.edu	37	4	91229784	91229784	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr4:91229784G>T	ENST00000509176.1	+	2	637	c.349G>T	c.(349-351)Gtt>Ttt	p.V117F	CCSER1_ENST00000432775.2_Missense_Mutation_p.V117F|CCSER1_ENST00000333691.8_Missense_Mutation_p.V117F	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		AAGACATTCTGTTGGTTTTAG	0.363													3	46	---	---	---	---	0	0
SAMD9	54809	broad.mit.edu	37	7	92735120	92735120	+	Silent	SNP	T	T	C			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr7:92735120T>C	ENST00000379958.2	-	3	560	c.291A>G	c.(289-291)aaA>aaG	p.K97K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	97						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTTTGGTCTTTAGGAGCAT	0.378													68	166	---	---	---	---	0	0
CDH23	64072	broad.mit.edu	37	10	73437354	73437354	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr10:73437354G>T	ENST00000224721.6	+	15	1676	c.1671G>T	c.(1669-1671)ttG>ttT	p.L557F	CDH23_ENST00000299366.7_Missense_Mutation_p.L597F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	552	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCAATGTGTTGGATGTCAACG	0.617													9	7	---	---	---	---	0	0
TIGD3	220359	broad.mit.edu	37	11	65123573	65123573	+	Silent	SNP	G	G	A			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr11:65123573G>A	ENST00000309880.5	+	2	501	c.294G>A	c.(292-294)acG>acA	p.T98T		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	98	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GGGACGTGACGGGGCCCATGC	0.642													25	39	---	---	---	---	0	0
ANKRD52	283373	broad.mit.edu	37	12	56646642	56646642	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr12:56646642T>C	ENST00000267116.7	-	12	1344	c.1223A>G	c.(1222-1224)cAt>cGt	p.H408R		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	408							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TGAAAGCACATGCTCATTGCT	0.522													13	19	---	---	---	---	0	0
NID2	22795	broad.mit.edu	37	14	52508861	52508861	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr14:52508861A>T	ENST00000216286.5	-	7	1786	c.1787T>A	c.(1786-1788)tTa>tAa	p.L596*	NID2_ENST00000541773.1_Nonsense_Mutation_p.L543*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	596	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGGTTTTTCTAAAGCAAAGAG	0.602													37	69	---	---	---	---	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548543	102548543	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr14:102548543A>T	ENST00000334701.7	-	11	2641	c.2360T>A	c.(2359-2361)tTg>tAg	p.L787*	HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.L665*	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	665					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TTCATAAAGCAAGATGACCAG	0.458													42	115	---	---	---	---	0	0
MATN4	8785	broad.mit.edu	37	20	43929859	43929859	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr20:43929859C>A	ENST00000537548.1	-	6	1016	c.772G>T	c.(772-774)Gac>Tac	p.D258Y	MATN4_ENST00000342716.4_Missense_Mutation_p.D258Y|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.D299Y|MATN4_ENST00000360607.6_Missense_Mutation_p.D217Y|MATN4_ENST00000372751.4_Missense_Mutation_p.D109Y|MATN4_ENST00000372756.1_Missense_Mutation_p.D258Y			O95460	MATN4_HUMAN	matrilin 4	299	EGF-like 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTGCAGTAGTCAATGGCTGGC	0.592											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	86	---	---	---	---	0	0
TFAP2E	339488	broad.mit.edu	37	1	36054078	36054078	+	Missense_Mutation	SNP	C	C	T	rs138290823		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:36054078C>T	ENST00000373235.3	+	4	918	c.710C>T	c.(709-711)aCg>aTg	p.T237M		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	237						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TACAAGGTGACGGTGGGGGAG	0.642													8	79	---	---	---	---	0	0
ADORA3	140	broad.mit.edu	37	1	112042982	112042982	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:112042982G>A	ENST00000241356.4	-	2	952	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	183					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATCCAGGTGAGGAAGCTGAAG	0.423													32	79	---	---	---	---	0	0
ITGA10	8515	broad.mit.edu	37	1	145532146	145532146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:145532146C>T	ENST00000369304.3	+	8	965	c.790C>T	c.(790-792)Cga>Tga	p.R264*	ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R133*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R121*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	264	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCATGGGGGCCGACCCGAGGC	0.547													10	64	---	---	---	---	0	0
CD1D	912	broad.mit.edu	37	1	158151249	158151249	+	Silent	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:158151249G>A	ENST00000368171.3	+	3	565	c.66G>A	c.(64-66)ccG>ccA	p.P22P		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	22					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCCCAGTCCCGCAAAGGCTTT	0.587													4	270	---	---	---	---	0	0
GLUL	2752	broad.mit.edu	37	1	182355539	182355539	+	Splice_Site	SNP	T	T	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:182355539T>C	ENST00000311223.5	-	5	1225		c.e5-2		GLUL_ENST00000417584.2_Splice_Site|GLUL_ENST00000339526.4_Splice_Site|GLUL_ENST00000331872.6_Splice_Site|GLUL_ENST00000491322.1_5'UTR	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase						cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	AATTGGTCTCTAGAAAAAAGA	0.463													22	90	---	---	---	---	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218421	208218421	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:208218421G>C	ENST00000367033.3	-	19	4387	c.3630C>G	c.(3628-3630)caC>caG	p.H1210Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1210	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCATGACCTTGTGCTGCCCGG	0.567													12	30	---	---	---	---	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417402	121417402	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr3:121417402T>G	ENST00000393667.3	-	13	2078	c.1968A>C	c.(1966-1968)gaA>gaC	p.E656D	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E651D	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	651					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTAAAGATATTTCCTCAGATG	0.408													22	79	---	---	---	---	0	0
EPHB3	2049	broad.mit.edu	37	3	184294719	184294719	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr3:184294719C>T	ENST00000330394.2	+	5	1554	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	368	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCTGGGTGGCCGGGATGACCT	0.587													4	122	---	---	---	---	0	0
SH3BP2	6452	broad.mit.edu	37	4	2822436	2822436	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr4:2822436G>C	ENST00000356331.5	+	2	353	c.92G>C	c.(91-93)gGc>gCc	p.G31A	SH3BP2_ENST00000389838.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000442312.2_Missense_Mutation_p.G59A|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G88A|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G31A	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	31	PH.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GCCAAGGCTGGCTACCTGCAC	0.617									Cherubism				5	47	---	---	---	---	0	0
NIPAL1	152519	broad.mit.edu	37	4	48027157	48027157	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr4:48027157T>A	ENST00000295461.5	+	2	185	c.119T>A	c.(118-120)cTg>cAg	p.L40Q	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	40						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TCACAGCTGCTGGCTTCTCCT	0.438													8	69	---	---	---	---	0	0
C5orf51	285636	broad.mit.edu	37	5	41909968	41909968	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr5:41909968G>C	ENST00000381647.2	+	3	347	c.328G>C	c.(328-330)Gta>Cta	p.V110L	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	110										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAAATTTTAGTAAAGGAAAA	0.323													3	50	---	---	---	---	0	0
PCDHA5	0	broad.mit.edu	37	5	140202850	140202850	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr5:140202850G>A	ENST00000529859.1	+	1	1490	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R497Q|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R497Q	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGCGGCGGGTGGGCGAG	0.672													6	80	---	---	---	---	0	0
PCDHA5	0	broad.mit.edu	37	5	140202971	140202971	+	Silent	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr5:140202971C>T	ENST00000529859.1	+	1	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.R537R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.R537R	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCGGGCG	0.682													4	122	---	---	---	---	0	0
PHF3	23469	broad.mit.edu	37	6	64422100	64422100	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:64422100A>G	ENST00000262043.3	+	16	4956	c.4616A>G	c.(4615-4617)gAa>gGa	p.E1539G	PHF3_ENST00000393387.1_Missense_Mutation_p.E1539G			Q92576	PHF3_HUMAN	PHD finger protein 3	1539					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGTCAGCAGAAATAGAAACA	0.363													14	64	---	---	---	---	0	0
PGM3	5238	broad.mit.edu	37	6	83900533	83900533	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:83900533G>A	ENST00000513973.1	-	2	315	c.199C>T	c.(199-201)Cct>Tct	p.P67S	PGM3_ENST00000506587.1_Missense_Mutation_p.P95S|PGM3_ENST00000283977.4_Intron|PGM3_ENST00000512866.1_Missense_Mutation_p.P67S	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	67					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		ATTACCTCAGGATTGTGGGAC	0.403													6	42	---	---	---	---	0	0
TAGAP	117289	broad.mit.edu	37	6	159463110	159463110	+	Splice_Site	SNP	C	C	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:159463110C>G	ENST00000367066.3	-	5	646	c.315G>C	c.(313-315)caG>caC	p.Q105H	RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000338313.5_Splice_Site_p.Q105H|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	105	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCACGCCTACCTGGATGGGTC	0.443													4	141	---	---	---	---	0	0
PCLO	27445	broad.mit.edu	37	7	82451834	82451834	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:82451834A>T	ENST00000333891.9	-	20	15105	c.14768T>A	c.(14767-14769)gTg>gAg	p.V4923E	PCLO_ENST00000423517.2_Missense_Mutation_p.V4923E|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGTTGTTGCACGGCAGCTTC	0.507													4	148	---	---	---	---	0	0
NOS3	4846	broad.mit.edu	37	7	150704213	150704213	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:150704213C>T	ENST00000297494.3	+	17	2318	c.1961C>T	c.(1960-1962)tCc>tTc	p.S654F	NOS3_ENST00000461406.1_Missense_Mutation_p.S448F	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	654	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGGCTCGGCTCCCGGGCATAC	0.687													5	177	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151836271	151836271	+	Splice_Site	SNP	C	C	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:151836271C>G	ENST00000355193.2	-	58	14923	c.14705G>C	c.(14704-14706)aGg>aCg	p.R4902T	KMT2C_ENST00000262189.6_Splice_Site_p.R4845T|KMT2C_ENST00000485655.2_Splice_Site_p.R50T					lysine (K)-specific methyltransferase 2C																		GCTGTCTCACCTTGCGGGCCC	0.567													11	48	---	---	---	---	0	0
RRAGA	10670	broad.mit.edu	37	9	19050073	19050073	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:19050073T>A	ENST00000380527.1	+	1	702	c.416T>A	c.(415-417)cTg>cAg	p.L139Q		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	139					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CAGCGTGACCTGATTTTTAAA	0.532													7	31	---	---	---	---	0	0
IFNA17	3451	broad.mit.edu	37	9	21227906	21227906	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:21227906A>T	ENST00000413767.2	-	1	315	c.267T>A	c.(265-267)aaT>aaA	p.N89K		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	89					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGCTGAAGAGATTGAAGGTCT	0.478													12	87	---	---	---	---	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130670786	130670786	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:130670786G>A	ENST00000335791.5	-	6	1069	c.794C>T	c.(793-795)gCa>gTa	p.A265V	ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.A181V|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	265					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTGCTCGTGTGCCAGGTACAT	0.637													4	62	---	---	---	---	0	0
CUL2	8453	broad.mit.edu	37	10	35305223	35305223	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:35305223C>G	ENST00000374748.1	-	19	2097	c.1784G>C	c.(1783-1785)aGt>aCt	p.S595T	CUL2_ENST00000537177.1_Missense_Mutation_p.S614T|CUL2_ENST00000602371.1_Missense_Mutation_p.S538T|CUL2_ENST00000374746.1_Missense_Mutation_p.S595T|CUL2_ENST00000374742.1_Missense_Mutation_p.S595T|CUL2_ENST00000374751.3_Missense_Mutation_p.S595T|CUL2_ENST00000374749.3_Missense_Mutation_p.S595T			Q13617	CUL2_HUMAN	cullin 2	595					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CTCTTTATAACTGACAGTTTC	0.353													22	48	---	---	---	---	0	0
PKD2L1	9033	broad.mit.edu	37	10	102050257	102050257	+	Missense_Mutation	SNP	A	A	G	rs143580376		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:102050257A>G	ENST00000318222.3	-	13	2409	c.2027T>C	c.(2026-2028)aTt>aCt	p.I676T	PKD2L1_ENST00000353274.3_Missense_Mutation_p.I676T|PKD2L1_ENST00000338519.3_Missense_Mutation_p.I601T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	676					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TAGTTTCTCAATCTCAGTGTT	0.527													5	28	---	---	---	---	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7662824	7662824	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:7662824C>G	ENST00000299492.4	+	16	1878	c.1490C>G	c.(1489-1491)cCc>cGc	p.P497R	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P339R|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P354R|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P385R	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	497					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AAACGGAATCCCAAAGGCATT	0.448													10	91	---	---	---	---	0	0
INTS5	80789	broad.mit.edu	37	11	62414787	62414787	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:62414787G>A	ENST00000330574.2	-	2	2817	c.2765C>T	c.(2764-2766)cCg>cTg	p.P922L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	922					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACCCAGGGCCGGAGGCAGGAG	0.612													5	138	---	---	---	---	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71260209	71260209	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:71260209T>G	ENST00000528743.2	+	1	744	c.506T>G	c.(505-507)aTc>aGc	p.I169S		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	169					epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CAGTGCAAGATCTGAGGCTCT	0.547													35	88	---	---	---	---	0	0
MTMR2	8898	broad.mit.edu	37	11	95595463	95595463	+	Silent	SNP	A	A	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:95595463A>G	ENST00000393223.3	-	6	776	c.114T>C	c.(112-114)taT>taC	p.Y38Y	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Silent_p.Y110Y|MTMR2_ENST00000409459.1_Silent_p.Y38Y|MTMR2_ENST00000352297.7_Silent_p.Y38Y	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	110	Ser-rich.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATATAACCTATAATTCGTGA	0.363													8	35	---	---	---	---	0	0
KDELC2	143888	broad.mit.edu	37	11	108357013	108357013	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:108357013C>A	ENST00000434945.2	-	2	689	c.387G>T	c.(385-387)agG>agT	p.R129S	KDELC2_ENST00000323468.5_Missense_Mutation_p.R185S|KDELC2_ENST00000375648.1_Missense_Mutation_p.R129S			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	185						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		CATCCCCAAACCTTTTGGGGA	0.418													6	95	---	---	---	---	0	0
SP1	0	broad.mit.edu	37	12	53776771	53776771	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:53776771C>A	ENST00000426431.2	+	3	1079	c.1019C>A	c.(1018-1020)tCa>tAa	p.S340*	SP1_ENST00000327443.4_Nonsense_Mutation_p.S347*	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	347	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		AGTGGATCATCAGGGACCAAC	0.498													3	34	---	---	---	---	0	0
TPH2	121278	broad.mit.edu	37	12	72372850	72372850	+	Silent	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:72372850C>T	ENST00000333850.3	+	7	1065	c.924C>T	c.(922-924)ccC>ccT	p.P308P		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	308					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCTCAGATCCCCTCTACACCC	0.532													10	123	---	---	---	---	0	0
IFT81	28981	broad.mit.edu	37	12	110618302	110618302	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:110618302A>G	ENST00000242591.5	+	12	1770	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E	IFT81_ENST00000552912.1_Missense_Mutation_p.K422E	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	422					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGCTGAACTTAAAGCTGAATT	0.328													8	26	---	---	---	---	0	0
ACADS	35	broad.mit.edu	37	12	121164962	121164962	+	Silent	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:121164962G>A	ENST00000242592.4	+	2	331	c.180G>A	c.(178-180)gtG>gtA	p.V60V	ACADS_ENST00000411593.2_Silent_p.V60V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	60						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CAGCCCAGGTGGATAAGGAAC	0.562													20	121	---	---	---	---	0	0
FAM214A	56204	broad.mit.edu	37	15	52902265	52902265	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr15:52902265A>C	ENST00000261844.7	-	6	998	c.846T>G	c.(844-846)caT>caG	p.H282Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.H289Q	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	282																	CACTTTTTGCATGTAACACAC	0.438													10	36	---	---	---	---	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92977487	92977487	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr15:92977487G>T	ENST00000268164.3	+	3	409	c.172G>T	c.(172-174)Gta>Tta	p.V58L	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V37L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	58					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGCTGAAGTTGTAATAAACGG	0.438													24	88	---	---	---	---	0	0
SRCAP	10847	broad.mit.edu	37	16	30750172	30750172	+	Silent	SNP	A	A	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr16:30750172A>G	ENST00000262518.4	+	34	9196	c.8811A>G	c.(8809-8811)agA>agG	p.R2937R	SRCAP_ENST00000344771.4_Silent_p.R2779R|SRCAP_ENST00000395059.2_Silent_p.R2875R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2937	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGAGAAAAGAAGGCGAGGAC	0.592													9	46	---	---	---	---	0	0
SRCAP	10847	broad.mit.edu	37	16	30750173	30750173	+	Silent	SNP	A	A	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr16:30750173A>C	ENST00000262518.4	+	34	9197	c.8812A>C	c.(8812-8814)Agg>Cgg	p.R2938R	SRCAP_ENST00000344771.4_Silent_p.R2780R|SRCAP_ENST00000395059.2_Silent_p.R2876R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2938	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGAGAAAAGAAGGCGAGGACG	0.587													9	45	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696431	47696431	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr17:47696431C>A	ENST00000393331.3	-	7	862	c.392G>T	c.(391-393)tGg>tTg	p.W131L	SPOP_ENST00000504102.1_Missense_Mutation_p.W131L|SPOP_ENST00000393328.2_Missense_Mutation_p.W131L|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGAATCCCCAGTCTTTGCC	0.453										Prostate(2;0.17)			35	101	---	---	---	---	0	0
SRSF1	6426	broad.mit.edu	37	17	56084419	56084419	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr17:56084419A>T	ENST00000582730.2	-	1	203	c.80T>A	c.(79-81)aTc>aAc	p.I27N	SRSF1_ENST00000584773.1_Missense_Mutation_p.I27N|SRSF1_ENST00000585096.1_Missense_Mutation_p.I27N|SRSF1_ENST00000258962.4_Missense_Mutation_p.I27N	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	27	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTGGTTCGGATGTCTGGAGG	0.587													5	54	---	---	---	---	0	0
C18orf8	29919	broad.mit.edu	37	18	21083629	21083629	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr18:21083629A>C	ENST00000269221.3	+	1	157	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	C18orf8_ENST00000590868.1_Missense_Mutation_p.Q16P	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	16										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGGCCGGTGCAGTTCGAGAAG	0.731													4	46	---	---	---	---	0	0
ZNF606	80095	broad.mit.edu	37	19	58499976	58499976	+	Silent	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr19:58499976G>A	ENST00000341164.4	-	5	911	c.291C>T	c.(289-291)caC>caT	p.H97H	ZNF606_ENST00000536132.1_Silent_p.H7H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	97	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CAGAGAGCAGGTGACCATAGG	0.557													36	127	---	---	---	---	0	0
ZFP64	55734	broad.mit.edu	37	20	50769705	50769705	+	Silent	SNP	A	A	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr20:50769705A>T	ENST00000216923.4	-	6	1375	c.1026T>A	c.(1024-1026)ccT>ccA	p.P342P	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.P340P|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Silent_p.P288P|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCACTTCTCAGGATGCTCCG	0.592													20	75	---	---	---	---	0	0
CTCFL	140690	broad.mit.edu	37	20	56099166	56099166	+	Silent	SNP	T	T	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr20:56099166T>C	ENST00000608263.1	-	1	757	c.96A>G	c.(94-96)aaA>aaG	p.K32K	CTCFL_ENST00000608440.1_Silent_p.K32K|CTCFL_ENST00000609232.1_Silent_p.K32K|CTCFL_ENST00000429804.3_Silent_p.K32K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Silent_p.K32K|CTCFL_ENST00000243914.3_Silent_p.K32K|CTCFL_ENST00000608425.1_Silent_p.K32K|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000423479.3_Silent_p.K32K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Silent_p.K32K|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000432255.2_Silent_p.K32K|CTCFL_ENST00000481655.2_Silent_p.K32K|CTCFL_ENST00000371196.2_Silent_p.K32K	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACACTCCGTCTTTTTCCTCCT	0.532													4	247	---	---	---	---	0	0
FCRL6	343413	broad.mit.edu	37	1	159778953	159778953	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr1:159778953C>A	ENST00000321935.6	+	5	629	c.543C>A	c.(541-543)gaC>gaA	p.D181E	FCRL6_ENST00000339348.5_Missense_Mutation_p.D174E|FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000368106.3_Missense_Mutation_p.D174E	NM_001284217.1	NP_001271146.1	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	174	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGGAGGGAGACTCTGGGCTTT	0.627													22	28	---	---	---	---	0	0
ACP1	52	broad.mit.edu	37	2	271876	271876	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:271876T>G	ENST00000272067.6	+	2	150	c.54T>G	c.(52-54)tgT>tgG	p.C18W	ACP1_ENST00000405233.1_Missense_Mutation_p.C18W|ACP1_ENST00000439645.2_Missense_Mutation_p.C18W|ACP1_ENST00000272065.5_Missense_Mutation_p.C18W|ACP1_ENST00000407983.3_Missense_Mutation_p.C18W|ACP1_ENST00000484464.1_3'UTR	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	18				CLGNICRS -> PARREAAR (in Ref. 5; AAB27085).		cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		GTAACATTTGTCGATCACCCA	0.453													34	37	---	---	---	---	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71361867	71361867	+	Silent	SNP	T	T	C			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:71361867T>C	ENST00000244230.2	+	4	1390	c.1038T>C	c.(1036-1038)gtT>gtC	p.V346V	MPHOSPH10_ENST00000498451.2_Silent_p.V346V	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	346					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ATACAGGTGTTTTAAATGTAA	0.289													6	89	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179432010	179432010	+	Silent	SNP	T	T	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr2:179432010T>G	ENST00000589042.1	-	326	79073	c.78849A>C	c.(78847-78849)gtA>gtC	p.V26283V	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.V24642V|TTN_ENST00000342175.6_Silent_p.V17410V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V23715V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V17343V|TTN_ENST00000460472.2_Silent_p.V17218V|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24642	Fibronectin type-III 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTATCTAATACTTTTACAT	0.403													4	102	---	---	---	---	0	0
TTC21A	199223	broad.mit.edu	37	3	39174617	39174617	+	Silent	SNP	A	A	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:39174617A>G	ENST00000301819.6	+	20	2838	c.2661A>G	c.(2659-2661)caA>caG	p.Q887Q	TTC21A_ENST00000431162.2_Silent_p.Q886Q|TTC21A_ENST00000440121.1_Silent_p.Q838Q|TTC21A_ENST00000493856.1_3'UTR	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	886							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCAGAAGCAACTGGCAGCCT	0.502													12	27	---	---	---	---	0	0
CACNA1D	776	broad.mit.edu	37	3	53809970	53809970	+	Silent	SNP	C	C	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:53809970C>T	ENST00000288139.4	+	36	4438	c.4320C>T	c.(4318-4320)ctC>ctT	p.L1440L	CACNA1D_ENST00000350061.5_Silent_p.L1420L|CACNA1D_ENST00000422281.2_Silent_p.L1405L|CACNA1D_ENST00000540742.1_Silent_p.L312L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit		Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAGGGAAGCTCTGTGACCCTG	0.493													50	76	---	---	---	---	0	0
ZIC1	7545	broad.mit.edu	37	3	147128235	147128235	+	Silent	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:147128235G>A	ENST00000282928.4	+	1	1065	c.336G>A	c.(334-336)gcG>gcA	p.A112A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	112	Poly-Ala.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACGCGGCGGCGGCAGCCAGCG	0.701													10	14	---	---	---	---	0	0
NAA15	80155	broad.mit.edu	37	4	140265373	140265373	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr4:140265373G>A	ENST00000296543.5	+	6	894	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.E191K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	191					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGAATATAGTGAACTACTCTT	0.333													19	82	---	---	---	---	0	0
CTNND2	1501	broad.mit.edu	37	5	11023079	11023079	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr5:11023079A>C	ENST00000304623.8	-	17	2990	c.2801T>G	c.(2800-2802)aTg>aGg	p.M934R	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.M501R|CTNND2_ENST00000359640.2_Missense_Mutation_p.M876R|CTNND2_ENST00000511377.1_Missense_Mutation_p.M843R|CTNND2_ENST00000503622.1_Missense_Mutation_p.M597R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	934					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TAGGTCTCGCATGGCGTATTT	0.507													18	35	---	---	---	---	0	0
ECI2	10455	broad.mit.edu	37	6	4130794	4130794	+	Splice_Site	SNP	C	C	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr6:4130794C>A	ENST00000465828.1	-	4	508	c.223G>T	c.(223-225)Gaa>Taa	p.E75*	ECI2_ENST00000380118.3_Splice_Site_p.E105*|C6orf201_ENST00000380175.4_3'UTR|ECI2_ENST00000361538.2_Splice_Site_p.E75*|ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000333388.5_3'UTR|ECI2_ENST00000380125.2_Splice_Site_p.E75*			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	105	ACB.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CTGGCAGCTTCCTGAACGGAC	0.438													20	35	---	---	---	---	0	0
FILIP1	27145	broad.mit.edu	37	6	76023240	76023240	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr6:76023240G>A	ENST00000393004.2	-	5	2529	c.2308C>T	c.(2308-2310)Ctc>Ttc	p.L770F	FILIP1_ENST00000237172.7_Missense_Mutation_p.L770F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.L671F			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	770										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTCAGATTGAGAACCTCCTGC	0.433													35	58	---	---	---	---	0	0
LIMK1	3984	broad.mit.edu	37	7	73520433	73520433	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr7:73520433C>G	ENST00000418310.1	+	7	933	c.831C>G	c.(829-831)agC>agG	p.S277R	LIMK1_ENST00000336180.2_Missense_Mutation_p.S247R|LIMK1_ENST00000538333.3_Missense_Mutation_p.S213R			P53667	LIMK1_HUMAN	LIM domain kinase 1	247					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				AGGAAACCAGCCGCCTGCTCC	0.632													41	62	---	---	---	---	0	0
LONRF1	91694	broad.mit.edu	37	8	12600768	12600768	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr8:12600768T>G	ENST00000398246.3	-	2	814	c.745A>C	c.(745-747)Att>Ctt	p.I249L	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	249					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GCTCTGTAAATTTTTACAATC	0.303													17	5	---	---	---	---	0	0
NSMAF	8439	broad.mit.edu	37	8	59511849	59511849	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr8:59511849C>G	ENST00000038176.3	-	19	1739	c.1527G>C	c.(1525-1527)tgG>tgC	p.W509C	NSMAF_ENST00000427130.2_Missense_Mutation_p.W540C	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	509	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	p.W509C(1)|p.W540C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTAGATCAATCCACTCGTGAA	0.373													4	204	---	---	---	---	0	0
FRMPD2	143162	broad.mit.edu	37	10	49430493	49430493	+	Splice_Site	SNP	G	G	T	rs144515014		TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr10:49430493G>T	ENST00000374201.3	-	12	1620	c.1318C>A	c.(1318-1320)Cac>Aac	p.H440N	FRMPD2_ENST00000407470.4_Splice_Site_p.H409N|FRMPD2_ENST00000305531.3_Splice_Site_p.H416N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	440	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GTCAGGCTGTGCCTGGAAAAG	0.498													3	52	---	---	---	---	0	0
OR5P3	120066	broad.mit.edu	37	11	7846597	7846597	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr11:7846597T>C	ENST00000328375.1	-	1	922	c.923A>G	c.(922-924)aAa>aGa	p.K308R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAAATATTTTTATTCTAAG	0.348													3	50	---	---	---	---	0	0
SRRM4	84530	broad.mit.edu	37	12	119583287	119583287	+	Silent	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr12:119583287G>A	ENST00000267260.4	+	9	1261	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	291	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	p.T291T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAAATGACACGTCCTCGCCAC	0.632													4	7	---	---	---	---	0	0
LTBP2	4053	broad.mit.edu	37	14	74995318	74995318	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr14:74995318C>T	ENST00000261978.4	-	12	2622	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K	LTBP2_ENST00000556690.1_Missense_Mutation_p.E746K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	746					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTTCCTCCTCCTCGGCTTTC	0.672													20	15	---	---	---	---	0	0
NLRC5	84166	broad.mit.edu	37	16	57099144	57099144	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr16:57099144A>G	ENST00000436936.1	+	33	4400	c.4175A>G	c.(4174-4176)gAc>gGc	p.D1392G	NLRC5_ENST00000262510.6_Missense_Mutation_p.D1392G|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1363G|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1363G			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1392					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCGTGGGCGGACAGAGCCAGG	0.602													6	12	---	---	---	---	0	0
RAC3	5881	broad.mit.edu	37	17	79990859	79990859	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr17:79990859G>A	ENST00000306897.4	+	4	400	c.262G>A	c.(262-264)Gcc>Acc	p.A88T		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	88					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGTGAGCCCGGCCTCCTTCGA	0.622													20	32	---	---	---	---	0	0
ATP9B	374868	broad.mit.edu	37	18	76873307	76873307	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr18:76873307G>C	ENST00000426216.2	+	4	528	c.511G>C	c.(511-513)Gta>Cta	p.V171L	ATP9B_ENST00000458297.2_Missense_Mutation_p.V119L|ATP9B_ENST00000307671.7_Missense_Mutation_p.V171L|ATP9B_ENST00000586722.1_Missense_Mutation_p.V171L|ATP9B_ENST00000591464.1_Intron	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	171					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTCACAGTTTGTACCAGCATT	0.289													3	54	---	---	---	---	0	0
ZNF831	128611	broad.mit.edu	37	20	57767047	57767047	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr20:57767047A>G	ENST00000371030.2	+	1	973	c.973A>G	c.(973-975)Aag>Gag	p.K325E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	325						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCAGCGGAGAAGCCCTGGGA	0.711													13	24	---	---	---	---	0	0
MAGEA4	4103	broad.mit.edu	37	X	151093031	151093031	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chrX:151093031C>T	ENST00000360243.2	+	3	1162	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R299C	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	299	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567													8	85	---	---	---	---	0	0
SDHB	6390	broad.mit.edu	37	1	17355219	17355219	+	Missense_Mutation	SNP	G	G	A	rs121917755		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:17355219G>A	ENST00000375499.3	-	4	449	c.299C>T	c.(298-300)tCt>tTt	p.S100F		NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	100	2Fe-2S ferredoxin-type.		S -> F (in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function).		respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CATTGCACAAGAGCCACAGAT	0.468			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				8	100	---	---	---	---	0	0
UBR4	23352	broad.mit.edu	37	1	19489045	19489045	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:19489045C>T	ENST00000375267.2	-	35	4828	c.4825G>A	c.(4825-4827)Gcc>Acc	p.A1609T	UBR4_ENST00000375254.3_Missense_Mutation_p.A1609T|UBR4_ENST00000375217.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375226.2_Missense_Mutation_p.A1609T			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1609					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGCTCAGGGCATTCGTGACA	0.512													6	89	---	---	---	---	0	0
THEMIS2	9473	broad.mit.edu	37	1	28212408	28212408	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:28212408T>G	ENST00000373921.3	+	6	1911	c.1907T>G	c.(1906-1908)cTt>cGt	p.L636R	THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L507R|THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000492877.1_3'UTR	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		GAAGAAATACTTGAGCAATTT	0.438													13	53	---	---	---	---	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161715	57161715	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:57161715A>G	ENST00000371244.4	+	6	737	c.671A>G	c.(670-672)aAg>aGg	p.K224R		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	224	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ACGTTATTTAAGAAGATCCGA	0.463													11	275	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152281367	152281367	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:152281367A>G	ENST00000368799.1	-	3	6030	c.5995T>C	c.(5995-5997)Tca>Cca	p.S1999P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1999	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCACTTGATCTTGCCTGT	0.562									Ichthyosis				97	519	---	---	---	---	0	0
OR10T2	128360	broad.mit.edu	37	1	158369196	158369196	+	Silent	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:158369196G>A	ENST00000334438.1	-	1	60	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGCTCCCCCAGGCTGGAGAAA	0.468													4	27	---	---	---	---	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069373	161069373	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:161069373T>A	ENST00000392192.2	+	3	834	c.692T>A	c.(691-693)tTt>tAt	p.F231Y	KLHDC9_ENST00000368011.4_Intron|KLHDC9_ENST00000490724.2_Intron	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	0										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGACAGTCCTTTCTTTCTCCC	0.507													19	309	---	---	---	---	0	0
IL18RAP	8807	broad.mit.edu	37	2	103063567	103063567	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:103063567C>T	ENST00000264260.2	+	10	1699	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	IL18RAP_ENST00000409369.1_Silent_p.T228T	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	370					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCATCGGGACCCTGGTGGCCG	0.587													5	167	---	---	---	---	0	0
GALNT15	117248	broad.mit.edu	37	3	16252698	16252698	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:16252698G>A	ENST00000339732.5	+	5	1650	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	GALNT15_ENST00000437509.1_Missense_Mutation_p.D383N	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TGGAGCGTATGACTCTCTTAT	0.547													17	59	---	---	---	---	0	0
IGSF10	285313	broad.mit.edu	37	3	151165279	151165279	+	Silent	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:151165279A>G	ENST00000282466.3	-	4	2489	c.2490T>C	c.(2488-2490)gaT>gaC	p.D830D		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	830					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCATAGGACTATCAGATATTG	0.433													6	119	---	---	---	---	0	0
HCN1	348980	broad.mit.edu	37	5	45695903	45695903	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:45695903A>C	ENST00000303230.4	-	1	350	c.293T>G	c.(292-294)tTc>tGc	p.F98C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	98	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CATGGAGGTGAACTGCCTCTG	0.682													9	38	---	---	---	---	0	0
CHD1	1105	broad.mit.edu	37	5	98216807	98216807	+	Silent	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:98216807T>G	ENST00000284049.3	-	21	3182	c.3033A>C	c.(3031-3033)gtA>gtC	p.V1011V		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1011					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATTCATCTCCTACAGTTAAAG	0.294													14	40	---	---	---	---	0	0
PCDHGA9	0	broad.mit.edu	37	5	140783254	140783254	+	Silent	SNP	G	G	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:140783254G>T	ENST00000573521.1	+	1	735	c.735G>T	c.(733-735)cgG>cgT	p.R245R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCAACGGATTTACCGAG	0.557													12	72	---	---	---	---	0	0
KCNK17	89822	broad.mit.edu	37	6	39272357	39272357	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:39272357G>A	ENST00000453413.2	-	3	567	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	KCNK17_ENST00000373231.4_Missense_Mutation_p.L143F	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	143						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						ACGAGGTTGAGTGGGATCCCC	0.637													15	102	---	---	---	---	0	0
SYNE1	23345	broad.mit.edu	37	6	152676065	152676065	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:152676065A>T	ENST00000367255.5	-	67	11256	c.10655T>A	c.(10654-10656)gTg>gAg	p.V3552E	SYNE1_ENST00000265368.4_Missense_Mutation_p.V3552E|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3523E|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3559E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3552					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTGTGCAGCACTGAGTTCAA	0.542										HNSCC(10;0.0054)			7	92	---	---	---	---	0	0
TYW1	55253	broad.mit.edu	37	7	66563653	66563653	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:66563653T>C	ENST00000359626.5	+	12	1674	c.1510T>C	c.(1510-1512)Tgt>Cgt	p.C504R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	504					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACTCCACCAGTGTAAAATTTC	0.453													4	70	---	---	---	---	0	0
ASB15	142685	broad.mit.edu	37	7	123269122	123269122	+	Silent	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:123269122T>C	ENST00000451558.1	+	12	1595	c.1074T>C	c.(1072-1074)gtT>gtC	p.V358V	ASB15_ENST00000275699.3_Silent_p.V358V|ASB15_ENST00000540573.1_Silent_p.V358V|ASB15_ENST00000451215.1_Silent_p.V358V|ASB15_ENST00000434204.1_Silent_p.V358V			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	358					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATTTTGGCGTTTCTAATAATG	0.453													46	73	---	---	---	---	0	0
UBXN2B	137886	broad.mit.edu	37	8	59343160	59343160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr8:59343160G>T	ENST00000399598.2	+	3	393	c.271G>T	c.(271-273)Gag>Tag	p.E91*	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	91						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						ACTTTTCAAAGAGGCAAGGGA	0.363													15	39	---	---	---	---	0	0
OSGIN2	734	broad.mit.edu	37	8	90933337	90933337	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr8:90933337C>T	ENST00000451899.2	+	5	818	c.558C>T	c.(556-558)agC>agT	p.S186S	OSGIN2_ENST00000520659.1_Silent_p.S186S|OSGIN2_ENST00000297438.2_Silent_p.S142S	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	142					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGACAATCAGCTTTGGAAGTT	0.328													6	156	---	---	---	---	0	0
TBC1D2	55357	broad.mit.edu	37	9	100962536	100962536	+	Splice_Site	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr9:100962536G>A	ENST00000375066.5	-	12	2636	c.2545C>T	c.(2545-2547)Cgg>Tgg	p.R849W	TBC1D2_ENST00000375064.1_Splice_Site_p.R860C|TBC1D2_ENST00000375063.1_Splice_Site_p.R400W|TBC1D2_ENST00000342112.5_Splice_Site_p.R642W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	860						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTCCTCACCGGCTGTTGGAG	0.537													8	18	---	---	---	---	0	0
ZBTB34	403341	broad.mit.edu	37	9	129641861	129641861	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr9:129641861C>G	ENST00000319119.4	+	2	268	c.183C>G	c.(181-183)ttC>ttG	p.F61L	ZBTB34_ENST00000373452.2_Missense_Mutation_p.F57L	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	57	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCCATATTTCCGGGACCATT	0.463													6	97	---	---	---	---	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925329	114925329	+	Missense_Mutation	SNP	C	C	T	rs61724286		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr10:114925329C>T	ENST00000355717.4	+	13	1913	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000545257.1_Silent_p.C486C|TCF7L2_ENST00000543371.1_Silent_p.C469C|TCF7L2_ENST00000355995.4_Silent_p.C486C|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000542695.1_Silent_p.C202C|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.C469C|TCF7L2_ENST00000369397.4_Silent_p.C463C|TCF7L2_ENST00000538897.1_Missense_Mutation_p.A462V|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A156V	NM_001146283.1|NM_001146286.1|NM_001198530.1	NP_001139755.1|NP_001139758.1|NP_001185459.1	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	0	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AAAAAAAGTGCGTTCGCTACA	0.527			T	VTI1A	colorectal								5	112	---	---	---	---	0	0
ZRANB1	54764	broad.mit.edu	37	10	126672053	126672053	+	Silent	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr10:126672053A>G	ENST00000359653.4	+	8	2075	c.1704A>G	c.(1702-1704)gaA>gaG	p.E568E	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	568	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGTTGTGGGAACAGAGTTTTT	0.483													17	86	---	---	---	---	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605854	1605854	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:1605854C>T	ENST00000382171.2	-	1	659	c.626G>A	c.(625-627)gGt>gAt	p.G209D	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	209	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACGGGCACACCGCAGCCGGA	0.662													10	72	---	---	---	---	0	0
FOLR3	2352	broad.mit.edu	37	11	71850740	71850740	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:71850740C>G	ENST00000445078.2	+	5	794	c.723C>G	c.(721-723)aaC>aaG	p.N241K	FOLR3_ENST00000442948.2_Missense_Mutation_p.N200K|FOLR3_ENST00000456237.1_Missense_Mutation_p.N243K			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	199					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AGGTCAGCAACTATAGTCGAG	0.602													4	44	---	---	---	---	0	0
TM7SF3	51768	broad.mit.edu	37	12	27152541	27152541	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:27152541C>T	ENST00000343028.4	-	3	540	c.315G>A	c.(313-315)caG>caA	p.Q105Q	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	105						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGCATGTACTCTGCTCTGGTC	0.473													12	30	---	---	---	---	0	0
MORN3	283385	broad.mit.edu	37	12	122107369	122107369	+	Silent	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:122107369T>C	ENST00000355329.3	-	1	191	c.21A>G	c.(19-21)ccA>ccG	p.P7P		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	7										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCGACTTTTTTGGGCACTTAG	0.617													7	89	---	---	---	---	0	0
ZC3H13	23091	broad.mit.edu	37	13	46542010	46542010	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr13:46542010T>A	ENST00000242848.4	-	15	4298	c.3950A>T	c.(3949-3951)gAt>gTt	p.D1317V	ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1317V|ZC3H13_ENST00000378921.2_Missense_Mutation_p.D273V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1317							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctgcctcgtatctctcctctc	0.502													17	58	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38061231	38061231	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:38061231A>T	ENST00000250448.2	-	2	819	c.758T>A	c.(757-759)aTg>aAg	p.M253K	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.M220K	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	253					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTCTCGAACATGTTGCCGGA	0.687													4	34	---	---	---	---	0	0
LTBP2	4053	broad.mit.edu	37	14	75022226	75022226	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:75022226T>C	ENST00000261978.4	-	4	1387	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.E334G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	334					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGAGGGGTGCTCCAGAGGTAC	0.632													10	62	---	---	---	---	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102482692	102482692	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:102482692C>G	ENST00000360184.4	+	37	7644	c.7480C>G	c.(7480-7482)Ctg>Gtg	p.L2494V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2494					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATAGCGATATCTGGTTTATGC	0.408													6	49	---	---	---	---	0	0
LMAN1L	79748	broad.mit.edu	37	15	75114226	75114226	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr15:75114226C>T	ENST00000309664.5	+	10	1255	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	LMAN1L_ENST00000379709.3_Silent_p.S360S|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	372						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCACCTCTCCATGTCACTCA	0.612													8	41	---	---	---	---	0	0
VPS35	55737	broad.mit.edu	37	16	46694501	46694501	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr16:46694501T>G	ENST00000299138.7	-	17	2332	c.2274A>C	c.(2272-2274)gaA>gaC	p.E758D		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	758					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTTCACTGGATTCAAGATTCG	0.408													15	69	---	---	---	---	0	0
ZNF521	25925	broad.mit.edu	37	18	22805204	22805204	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr18:22805204G>A	ENST00000361524.3	-	4	2826	c.2678C>T	c.(2677-2679)gCa>gTa	p.A893V	ZNF521_ENST00000584787.1_Missense_Mutation_p.A673V|ZNF521_ENST00000538137.2_Missense_Mutation_p.A893V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	893					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTGTAGGCTGCCCCACAAAT	0.512			T	PAX5	ALL								4	51	---	---	---	---	0	0
PLCB4	5332	broad.mit.edu	37	20	9370528	9370528	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr20:9370528T>G	ENST00000378501.2	+	13	1176	c.1161T>G	c.(1159-1161)gaT>gaG	p.D387E	PLCB4_ENST00000378493.1_Missense_Mutation_p.D387E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D387E|PLCB4_ENST00000334005.3_Missense_Mutation_p.D387E|PLCB4_ENST00000278655.4_Missense_Mutation_p.D387E|PLCB4_ENST00000414679.2_Missense_Mutation_p.D387E|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	387	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTAAAGGATGTAATTCAAG	0.333													12	72	---	---	---	---	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963818	73963818	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:73963818T>A	ENST00000055682.6	-	3	1185	c.574A>T	c.(574-576)Aat>Tat	p.N192Y		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TATTTCATATTTTCTCCAGCA	0.458													5	36	---	---	---	---	0	0
GPC4	2239	broad.mit.edu	37	X	132437323	132437323	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:132437323T>A	ENST00000370828.3	-	8	1863	c.1339A>T	c.(1339-1341)Aac>Tac	p.N447Y	GPC4_ENST00000535467.1_Missense_Mutation_p.N377Y	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	447					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ACCTCTGGGTTGTTGCCCTGG	0.443													3	49	---	---	---	---	0	0
FCRL1	115350	broad.mit.edu	37	1	157773734	157773734	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr1:157773734C>T	ENST00000358292.3	-	3	271	c.220G>A	c.(220-222)Gct>Act	p.A74T	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.A74T|FCRL1_ENST00000491942.1_Missense_Mutation_p.A74T	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	74	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACATGGCAGCGATCTGGAGC	0.557													8	71	---	---	---	---	0	0
OR2M7	391196	broad.mit.edu	37	1	248487019	248487019	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr1:248487019C>T	ENST00000317965.2	-	1	880	c.852G>A	c.(850-852)atG>atA	p.M284I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGATTCAGCATGGGAGTGA	0.438													7	46	---	---	---	---	0	0
CDS1	1040	broad.mit.edu	37	4	85569757	85569757	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr4:85569757C>T	ENST00000295887.5	+	13	1727	c.1304C>T	c.(1303-1305)cCt>cTt	p.P435L		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	435					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GTGCTTCAACCTGAACAGCAG	0.403													11	39	---	---	---	---	0	0
PHIP	55023	broad.mit.edu	37	6	79672824	79672824	+	Silent	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr6:79672824C>T	ENST00000275034.4	-	30	3692	c.3525G>A	c.(3523-3525)ttG>ttA	p.L1175L	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1175					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTAGTGTCATCAACTGGTTTA	0.373													7	172	---	---	---	---	0	0
CSPP1	79848	broad.mit.edu	37	8	68084687	68084687	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr8:68084687G>A	ENST00000262210.5	+	23	2881	c.2850G>A	c.(2848-2850)atG>atA	p.M950I	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.M605I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	985						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TATTTGATATGGCTAGACATC	0.378													12	65	---	---	---	---	0	0
RPL7	6129	broad.mit.edu	37	8	74205006	74205006	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr8:74205006A>C	ENST00000352983.2	-	2	326	c.41T>G	c.(40-42)gTg>gGg	p.V14G	RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000396465.1_5'UTR|RPL7_ENST00000396466.1_5'UTR			P18124	RL7_HUMAN	ribosomal protein L7	14	4 X 12 AA tandem repeats.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			GGTTTCTGGCACAGCAGGAAC	0.413													7	41	---	---	---	---	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814523	106814523	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr8:106814523G>A	ENST00000407775.2	+	8	2463	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R606H|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R469H|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R606H|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	738					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACACGCAAGCGCAGAAAGATG	0.507													5	20	---	---	---	---	0	0
BTBD16	118663	broad.mit.edu	37	10	124050622	124050622	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr10:124050622A>G	ENST00000368994.2	+	7	757	c.506A>G	c.(505-507)tAc>tGc	p.Y169C	BTBD16_ENST00000260723.4_Missense_Mutation_p.Y168C			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	168	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AAGAACCTCTACATGAGTGAG	0.582													25	85	---	---	---	---	0	0
PTPRE	5791	broad.mit.edu	37	10	129854464	129854464	+	Silent	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr10:129854464C>T	ENST00000254667.3	+	7	777	c.498C>T	c.(496-498)ccC>ccT	p.P166P	PTPRE_ENST00000419012.2_Silent_p.P166P|PTPRE_ENST00000306042.5_Silent_p.P108P|PTPRE_ENST00000430713.2_Intron	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	166	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ACAGATATCCCAACATCCTTC	0.393													21	121	---	---	---	---	0	0
GPR123	84435	broad.mit.edu	37	10	134909215	134909215	+	Silent	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr10:134909215G>A	ENST00000607359.1	+	11	2094	c.2094G>A	c.(2092-2094)cgG>cgA	p.R698R	GPR123_ENST00000392607.3_Intron			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGGCTGGACGGACAAGAAGTG	0.642													3	21	---	---	---	---	0	0
OR4C11	219429	broad.mit.edu	37	11	55371196	55371196	+	Silent	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr11:55371196G>A	ENST00000302231.4	-	1	678	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATGCAAGATGACAATATATG	0.413													25	77	---	---	---	---	0	0
STRN3	29966	broad.mit.edu	37	14	31416396	31416396	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr14:31416396G>T	ENST00000355683.5	-	5	831	c.616C>A	c.(616-618)Cta>Ata	p.L206I	STRN3_ENST00000357479.5_Missense_Mutation_p.L206I	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	206					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GAATTAGATAGTCCAAGTAAT	0.343													4	134	---	---	---	---	0	0
ZNF521	25925	broad.mit.edu	37	18	22806306	22806306	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr18:22806306A>G	ENST00000361524.3	-	4	1724	c.1576T>C	c.(1576-1578)Tct>Cct	p.S526P	ZNF521_ENST00000538137.2_Missense_Mutation_p.S526P|ZNF521_ENST00000584787.1_Missense_Mutation_p.S306P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	526					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCCAGGGAAGAGTCAGTGAGA	0.463			T	PAX5	ALL								14	45	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9045763	9045763	+	Silent	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr19:9045763G>A	ENST00000397910.4	-	5	36071	c.35868C>T	c.(35866-35868)acC>acT	p.T11956T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11958	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCATGACTGGTTTTAGGTG	0.478													13	54	---	---	---	---	0	0
TRIM28	10155	broad.mit.edu	37	19	59060418	59060418	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr19:59060418A>T	ENST00000253024.5	+	12	1762	c.1473A>T	c.(1471-1473)gaA>gaT	p.E491D	TRIM28_ENST00000341753.6_Missense_Mutation_p.E409D	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	491	HP1 box.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGAGCCTTGAACGCCTGGACC	0.582													4	15	---	---	---	---	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724777	7724777	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:7724777A>T	ENST00000303635.7	+	9	2377	c.2170A>T	c.(2170-2172)Aac>Tac	p.N724Y	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N724Y	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCGGAGACCAACGGGGTAAT	0.682			T	WWTR1	epitheliod hemangioendothelioma								17	61	---	---	---	---	0	0
ECE1	1889	broad.mit.edu	37	1	21548284	21548284	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:21548284G>C	ENST00000415912.2	-	18	2169	c.2044C>G	c.(2044-2046)Ctg>Gtg	p.L682V	ECE1_ENST00000374893.6_Missense_Mutation_p.L698V|ECE1_ENST00000357071.4_Missense_Mutation_p.L686V|ECE1_ENST00000264205.6_Missense_Mutation_p.L695V|ECE1_ENST00000436918.2_Intron	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	698					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GTGAGGCCCAGGGTGGGGAGC	0.537													8	215	---	---	---	---	0	0
GPATCH3	63906	broad.mit.edu	37	1	27226496	27226496	+	Silent	SNP	A	A	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:27226496A>T	ENST00000361720.5	-	1	461	c.438T>A	c.(436-438)ccT>ccA	p.P146P		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	146						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		ATGCCTCCGTAGGTAGCCGAA	0.567													13	23	---	---	---	---	0	0
CCDC28B	79140	broad.mit.edu	37	1	32669948	32669948	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:32669948G>A	ENST00000421922.2	+	4	593	c.493G>A	c.(493-495)Gct>Act	p.A165T	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Missense_Mutation_p.A165T			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	165										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAAGACAATGGCTGACCGTAA	0.567													10	46	---	---	---	---	0	0
CPS1	1373	broad.mit.edu	37	2	211504743	211504743	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:211504743C>G	ENST00000233072.5	+	24	3115	c.2919C>G	c.(2917-2919)gaC>gaG	p.D973E	CPS1_ENST00000451903.2_Missense_Mutation_p.D522E|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.D979E	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	973					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATTTTGATGACCATGGAATGA	0.308													37	62	---	---	---	---	0	0
PAX3	5077	broad.mit.edu	37	2	223085952	223085952	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr2:223085952G>T	ENST00000350526.4	-	6	1083	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	PAX3_ENST00000336840.6_Missense_Mutation_p.S316Y|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Missense_Mutation_p.S316Y|PAX3_ENST00000344493.4_Missense_Mutation_p.S316Y|PAX3_ENST00000409551.3_Missense_Mutation_p.S315Y|PAX3_ENST00000392069.2_Missense_Mutation_p.S316Y	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	316					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGGAATAGATGTGGGCTG	0.502			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						74	179	---	---	---	---	0	0
IRAK2	3656	broad.mit.edu	37	3	10264445	10264445	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr3:10264445C>T	ENST00000256458.4	+	9	1229	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	380	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						ACGTCAGCCGCGTATCTGCCA	0.532													6	88	---	---	---	---	0	0
SCN11A	11280	broad.mit.edu	37	3	38924808	38924808	+	Silent	SNP	C	C	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr3:38924808C>A	ENST00000450244.1	-	18	3333	c.3135G>T	c.(3133-3135)ctG>ctT	p.L1045L	SCN11A_ENST00000456224.3_Silent_p.L1007L|SCN11A_ENST00000444237.2_Silent_p.L1045L|SCN11A_ENST00000302328.3_Silent_p.L1045L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1045					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGGTTTTCCGCAGGTTCCACC	0.453													21	38	---	---	---	---	0	0
GABRG1	2565	broad.mit.edu	37	4	46067500	46067500	+	Silent	SNP	T	T	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr4:46067500T>C	ENST00000295452.4	-	4	590	c.423A>G	c.(421-423)ggA>ggG	p.G141G		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	141					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCCAAATTTTTCCAACCATAT	0.343													21	43	---	---	---	---	0	0
GABRB1	2560	broad.mit.edu	37	4	47405709	47405709	+	Silent	SNP	T	T	G			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr4:47405709T>G	ENST00000295454.3	+	7	1108	c.816T>G	c.(814-816)tcT>tcG	p.S272S	GABRB1_ENST00000538619.1_Silent_p.S202S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	272					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGATGCATCTGCAGCCAGAG	0.388													34	68	---	---	---	---	0	0
CTSO	1519	broad.mit.edu	37	4	156863585	156863585	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr4:156863585A>C	ENST00000433477.3	-	3	337	c.268T>G	c.(268-270)Tcc>Gcc	p.S90A		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	90					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		GGAAACTTGGAAGGTTTGCTT	0.323													33	57	---	---	---	---	0	0
SSBP2	23635	broad.mit.edu	37	5	80809507	80809507	+	Silent	SNP	T	T	G			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr5:80809507T>G	ENST00000320672.4	-	5	522	c.312A>C	c.(310-312)ctA>ctC	p.L104L	SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000515395.1_Intron|SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000505980.1_Silent_p.L104L	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	104	Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GAATGTTTCCTAGCACTGGAC	0.448													64	67	---	---	---	---	0	0
GPR98	84059	broad.mit.edu	37	5	89986832	89986832	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr5:89986832G>A	ENST00000405460.2	+	31	7021	c.6925G>A	c.(6925-6927)Gct>Act	p.A2309T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2309	Calx-beta 16.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAGGTCCTGGCTGACGACGT	0.473													23	109	---	---	---	---	0	0
MCTP1	79772	broad.mit.edu	37	5	94046594	94046594	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr5:94046594G>T	ENST00000515393.1	-	21	2758	c.2759C>A	c.(2758-2760)gCc>gAc	p.A920D	MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000429576.2_Missense_Mutation_p.A613D|MCTP1_ENST00000312216.8_Missense_Mutation_p.A699D|MCTP1_ENST00000505078.1_Missense_Mutation_p.A436D|ANKRD32_ENST00000493934.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	920					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGCTACAATGGCCAGCCAGCT	0.433													12	22	---	---	---	---	0	0
TRIM10	10107	broad.mit.edu	37	6	30124743	30124743	+	Silent	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:30124743G>A	ENST00000449742.2	-	5	943	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	TRIM10_ENST00000376704.3_Silent_p.L290L	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	290						cytoplasm	zinc ion binding			ovary(1)	1						TCCCTCTGCAGCGGGAGGGCC	0.612													22	19	---	---	---	---	0	0
RPL10A	4736	broad.mit.edu	37	6	35438405	35438405	+	Missense_Mutation	SNP	G	G	A	rs11553976		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:35438405G>A	ENST00000322203.6	+	6	559	c.532G>A	c.(532-534)Gag>Aag	p.E178K	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	178					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						GACAGACGATGAGCTTGTGTA	0.483													28	39	---	---	---	---	0	0
KIF6	221458	broad.mit.edu	37	6	39581087	39581087	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:39581087T>C	ENST00000287152.7	-	6	611	c.517A>G	c.(517-519)Aca>Gca	p.T173A	KIF6_ENST00000373216.3_Missense_Mutation_p.T173A|KIF6_ENST00000538893.1_Missense_Mutation_p.T173A|KIF6_ENST00000373213.4_Missense_Mutation_p.T12A|KIF6_ENST00000373215.3_Missense_Mutation_p.T173A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	173	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCAGTATTGTCACTTTCCTA	0.398													28	66	---	---	---	---	0	0
ORC3	23595	broad.mit.edu	37	6	88375537	88375537	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr6:88375537G>A	ENST00000392844.3	+	19	2064	c.2016G>A	c.(2014-2016)atG>atA	p.M672I	ORC3_ENST00000546266.1_Missense_Mutation_p.M529I|ORC3_ENST00000257789.4_Missense_Mutation_p.M673I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	672					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAGAAGAAATGAATGAAATTA	0.308													3	42	---	---	---	---	0	0
HIPK2	28996	broad.mit.edu	37	7	139416759	139416759	+	Silent	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr7:139416759G>A	ENST00000406875.3	-	2	169	c.75C>T	c.(73-75)ttC>ttT	p.F25F	HIPK2_ENST00000428878.2_Silent_p.F25F|HIPK2_ENST00000342645.6_Silent_p.F25F	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	25					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TCACACTACAGAAGGCACTTG	0.483													7	12	---	---	---	---	0	0
SNTG1	54212	broad.mit.edu	37	8	51314884	51314884	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr8:51314884G>A	ENST00000522124.1	+	4	803	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	SNTG1_ENST00000276467.5_Missense_Mutation_p.G48S|SNTG1_ENST00000517473.1_Missense_Mutation_p.G48S|SNTG1_ENST00000518864.1_Missense_Mutation_p.G48S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	48					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATGTGTGTCTGGTGAGCCTTT	0.378													57	89	---	---	---	---	0	0
FAM122A	116224	broad.mit.edu	37	9	71395528	71395528	+	Missense_Mutation	SNP	C	C	G	rs146421193		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr9:71395528C>G	ENST00000394264.3	+	1	565	c.448C>G	c.(448-450)Cgg>Ggg	p.R150G	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	150										endometrium(1)|lung(2)	3						GTCACCCACTCGGGGAATTGG	0.532													39	32	---	---	---	---	0	0
NXF1	10482	broad.mit.edu	37	11	62569242	62569242	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr11:62569242T>A	ENST00000531709.2	-	6	721	c.608A>T	c.(607-609)gAa>gTa	p.E203V	NXF1_ENST00000531131.1_Missense_Mutation_p.E66V|NXF1_ENST00000532297.1_Missense_Mutation_p.E203V|NXF1_ENST00000294172.2_Missense_Mutation_p.E203V|NXF1_ENST00000439713.2_Missense_Mutation_p.E203V	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	203	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCTTCAGTTCATTCAGTAT	0.488													56	86	---	---	---	---	0	0
ANKK1	255239	broad.mit.edu	37	11	113265773	113265773	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr11:113265773G>T	ENST00000303941.3	+	3	697	c.603G>T	c.(601-603)aaG>aaT	p.K201N		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	201	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGAGTAACAAGGCCCCAGGAC	0.587													4	11	---	---	---	---	0	0
ROBO4	54538	broad.mit.edu	37	11	124755084	124755084	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr11:124755084G>T	ENST00000306534.3	-	17	3339	c.2854C>A	c.(2854-2856)Ccc>Acc	p.P952T	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P807T	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	952					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TCCCACAGGGGCAGGGAGAGG	0.627													28	55	---	---	---	---	0	0
GRIN2B	2904	broad.mit.edu	37	12	13724776	13724776	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr12:13724776C>A	ENST00000609686.1	-	10	2342	c.2133G>T	c.(2131-2133)caG>caT	p.Q711H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTACACCCCTCTGGTTGAACT	0.463													4	127	---	---	---	---	0	0
SRGAP1	57522	broad.mit.edu	37	12	64502788	64502788	+	Silent	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr12:64502788G>A	ENST00000355086.3	+	16	2414	c.1890G>A	c.(1888-1890)gtG>gtA	p.V630V	SRGAP1_ENST00000357825.3_Silent_p.V607V|SRGAP1_ENST00000543397.1_Silent_p.V567V|RP11-196H14.4_ENST00000535806.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	630	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCCTTATAGTGATGAGGTACC	0.448													49	70	---	---	---	---	0	0
TMTC2	160335	broad.mit.edu	37	12	83424606	83424606	+	Silent	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr12:83424606C>T	ENST00000549919.1	+	10	3887	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	TMTC2_ENST00000321196.3_Silent_p.F700F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	700						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AAAAGCTCTTCTTGAAGGCTA	0.423													33	61	---	---	---	---	0	0
WASF3	10810	broad.mit.edu	37	13	27256890	27256890	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr13:27256890C>T	ENST00000361042.4	+	9	1346	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	WASF3_ENST00000335327.5_Missense_Mutation_p.S377F			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	377					actin filament polymerization	cytoplasm|cytoskeleton	actin binding	p.S377F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TCAGCCAGCTCCACGCACGCA	0.701													23	37	---	---	---	---	0	0
BCL11B	64919	broad.mit.edu	37	14	99642454	99642454	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr14:99642454G>T	ENST00000345514.2	-	3	772	c.506C>A	c.(505-507)gCg>gAg	p.A169E	BCL11B_ENST00000443726.2_Missense_Mutation_p.A46E|BCL11B_ENST00000357195.3_Missense_Mutation_p.A240E	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	240						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGTGTTCTGCGCGTGCTGCAG	0.652			T	TLX3	T-ALL								6	25	---	---	---	---	0	0
UBE3A	7337	broad.mit.edu	37	15	25605555	25605555	+	Silent	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr15:25605555C>T	ENST00000232165.3	-	7	2384	c.1728G>A	c.(1726-1728)gtG>gtA	p.V576V	UBE3A_ENST00000428984.2_Silent_p.V556V|UBE3A_ENST00000566215.1_Silent_p.V556V|UBE3A_ENST00000397954.2_Silent_p.V579V|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Silent_p.V556V	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	579					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AGATTTCCTCCACAACCAGCT	0.343													34	31	---	---	---	---	0	0
XYLT1	64131	broad.mit.edu	37	16	17292238	17292238	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:17292238C>T	ENST00000261381.6	-	5	1204	c.1120G>A	c.(1120-1122)Gtc>Atc	p.V374I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	374					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCCTGGAGACCTGGAGCACT	0.587													3	34	---	---	---	---	0	0
FAM57B	83723	broad.mit.edu	37	16	30036752	30036752	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:30036752C>T	ENST00000380495.4	-	5	1308	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	FAM57B_ENST00000564806.1_3'UTR|FAM57B_ENST00000279389.4_Missense_Mutation_p.G143R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	193	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ATCAGGGCCCCGTTCACCTTG	0.662													3	30	---	---	---	---	0	0
CMIP	80790	broad.mit.edu	37	16	81685832	81685832	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:81685832G>C	ENST00000537098.3	+	4	574	c.502G>C	c.(502-504)Gtg>Ctg	p.V168L	CMIP_ENST00000539778.2_Missense_Mutation_p.V74L|CMIP_ENST00000398040.4_Missense_Mutation_p.V15L|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	134						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						ATATAAGAAAGTGCTGAGTAA	0.453													12	27	---	---	---	---	0	0
CMIP	80790	broad.mit.edu	37	16	81685842	81685842	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:81685842A>C	ENST00000537098.3	+	4	584	c.512A>C	c.(511-513)aAc>aCc	p.N171T	CMIP_ENST00000539778.2_Missense_Mutation_p.N77T|CMIP_ENST00000398040.4_Missense_Mutation_p.N18T|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	137						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GTGCTGAGTAACCCAAGCCGC	0.483													12	27	---	---	---	---	0	0
CDK12	51755	broad.mit.edu	37	17	37650848	37650848	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr17:37650848G>A	ENST00000447079.4	+	5	2353	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	CDK12_ENST00000430627.2_Missense_Mutation_p.E774K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	774	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGCCATTCGTGAAATCAAAAT	0.398			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			12	21	---	---	---	---	0	0
SPATA20	64847	broad.mit.edu	37	17	48626526	48626526	+	Silent	SNP	G	G	C			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr17:48626526G>C	ENST00000006658.6	+	6	759	c.639G>C	c.(637-639)gtG>gtC	p.V213V	SPATA20_ENST00000356488.4_Silent_p.V197V|SPATA20_ENST00000393244.3_Silent_p.V153V|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	197					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TCCGCACAGTGTTGCTGAGAA	0.617													3	75	---	---	---	---	0	0
SETBP1	26040	broad.mit.edu	37	18	42532187	42532187	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr18:42532187T>G	ENST00000282030.5	+	4	3178	c.2882T>G	c.(2881-2883)aTc>aGc	p.I961S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	961						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGGAGCTAATCACCAAGTTC	0.478									Schinzel-Giedion syndrome				36	49	---	---	---	---	0	0
PTBP1	5725	broad.mit.edu	37	19	804112	804112	+	Silent	SNP	G	G	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:804112G>T	ENST00000356948.6	+	4	615	c.192G>T	c.(190-192)cgG>cgT	p.R64R	PTBP1_ENST00000394601.4_Silent_p.R64R|PTBP1_ENST00000349038.4_Silent_p.R64R|PTBP1_ENST00000350092.4_Intron	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	64	RRM 1.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCACATCCGGAAGCTCCCCA	0.562													5	28	---	---	---	---	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2410386	2410386	+	Silent	SNP	C	C	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:2410386C>A	ENST00000332578.3	+	8	1146	c.1146C>A	c.(1144-1146)tcC>tcA	p.S382S		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	382	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGACTCCTGCCAGGTGA	0.567													24	22	---	---	---	---	0	0
SLC25A23	79085	broad.mit.edu	37	19	6458224	6458224	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:6458224C>G	ENST00000301454.4	-	2	374	c.268G>C	c.(268-270)Gac>Cac	p.D90H	SLC25A23_ENST00000334510.5_Missense_Mutation_p.D90H	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	90	EF-hand 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						TGGTTCCGGTCAAGACTGTGA	0.607													10	46	---	---	---	---	0	0
DHPS	1725	broad.mit.edu	37	19	12790632	12790632	+	Silent	SNP	C	C	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr19:12790632C>A	ENST00000210060.7	-	3	612	c.477G>T	c.(475-477)cgG>cgT	p.R159R	DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000351660.5_Silent_p.R159R|DHPS_ENST00000594424.1_Silent_p.R117R	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	159					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	TCCCGTTCTCCCGGAGCTCCT	0.602													18	56	---	---	---	---	0	0
PPP6R2	9701	broad.mit.edu	37	22	50875995	50875995	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr22:50875995A>G	ENST00000359139.3	+	15	2057	c.1663A>G	c.(1663-1665)Aat>Gat	p.N555D	PPP6R2_ENST00000216061.5_Missense_Mutation_p.N582D|PPP6R2_ENST00000395741.3_Missense_Mutation_p.N556D|PPP6R2_ENST00000395744.3_Missense_Mutation_p.N555D	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	582						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GTTTGGCTTCAATGATGAGGA	0.597													17	25	---	---	---	---	0	0
FAM47A	158724	broad.mit.edu	37	X	34148192	34148192	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chrX:34148192C>A	ENST00000346193.3	-	1	2255	c.2204G>T	c.(2203-2205)gGa>gTa	p.G735V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	735										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCAATTGGTCCATAAAGATC	0.423													9	69	---	---	---	---	0	0
CHRDL1	91851	broad.mit.edu	37	X	109963154	109963154	+	Silent	SNP	C	C	T			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chrX:109963154C>T	ENST00000218054.4	-	6	643	c.447G>A	c.(445-447)gaG>gaA	p.E149E	CHRDL1_ENST00000372042.1_Silent_p.E150E|CHRDL1_ENST00000394797.4_Silent_p.E149E|CHRDL1_ENST00000372045.1_Silent_p.E143E|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000444321.2_Silent_p.E149E|CHRDL1_ENST00000482160.1_Intron	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	143	VWFC 2.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACACGTTTCCCTCCTGCCAAG	0.463													22	6	---	---	---	---	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1139318	1139318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:1139318G>A	ENST00000328596.6	-	4	420	c.421C>T	c.(421-423)Cga>Tga	p.R141*	TNFRSF18_ENST00000379265.5_Missense_Mutation_p.S204L|TNFRSF18_ENST00000486728.1_Missense_Mutation_p.S139L|TNFRSF18_ENST00000379268.2_Missense_Mutation_p.S211L	NM_148901.1	NP_683699.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	0					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTCTTCGGTCGACGGCGGCAC	0.697													6	6	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	185959539	185959539	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:185959539C>A	ENST00000271588.4	+	22	3570	c.3341C>A	c.(3340-3342)gCc>gAc	p.A1114D	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1114D|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1114	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTACTTGGGCCAAAGAAACC	0.483													31	50	---	---	---	---	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032862	193032862	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr3:193032862G>A	ENST00000342358.4	-	18	2174	c.2057C>T	c.(2056-2058)aCa>aTa	p.T686I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	686					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCCCAGAAATGTTAACTCTGA	0.358													9	180	---	---	---	---	0	0
FLNC	2318	broad.mit.edu	37	7	128481581	128481581	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr7:128481581C>G	ENST00000325888.8	+	13	2342	c.2081C>G	c.(2080-2082)gCt>gGt	p.A694G	FLNC_ENST00000346177.6_Missense_Mutation_p.A694G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	694					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACCATTGATGCTCGTGCAGCT	0.602													105	62	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151878020	151878020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr7:151878020G>A	ENST00000355193.2	-	36	7143	c.6925C>T	c.(6925-6927)Cag>Tag	p.Q2309*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2309*					lysine (K)-specific methyltransferase 2C																		GAGTCAGACTGAGATCTTGGA	0.507													50	18	---	---	---	---	0	0
GALNT12	79695	broad.mit.edu	37	9	101608342	101608342	+	Silent	SNP	T	T	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr9:101608342T>C	ENST00000375011.3	+	9	1542	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	514	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CAGGAATGGATACCCTTATCA	0.498													22	38	---	---	---	---	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72511348	72511348	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr10:72511348A>T	ENST00000373208.1	+	17	2551	c.2551A>T	c.(2551-2553)Acc>Tcc	p.T851S	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.T848S	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	848	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGAGATGGACACCTATGAGTG	0.632													16	23	---	---	---	---	0	0
DCHS1	8642	broad.mit.edu	37	11	6643327	6643327	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:6643327G>A	ENST00000299441.3	-	21	9991	c.9580C>T	c.(9580-9582)Ccc>Tcc	p.P3194S	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3194					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P3194S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGCTGGGGGACATGGCCGA	0.622													3	24	---	---	---	---	0	0
TCN1	6947	broad.mit.edu	37	11	59620781	59620781	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:59620781C>T	ENST00000257264.3	-	8	1239	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	379					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATGAGCGCTCCTCCATTGTG	0.458													32	49	---	---	---	---	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103124075	103124075	+	Silent	SNP	C	C	G			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:103124075C>G	ENST00000375735.2	+	66	10248	c.10104C>G	c.(10102-10104)ctC>ctG	p.L3368L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L3375L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3368	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATTCCGCCTCTTTTTGTCAA	0.373													36	5	---	---	---	---	0	0
OR8D2	283160	broad.mit.edu	37	11	124189196	124189196	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124189196C>T	ENST00000357438.2	-	1	988	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TTCTTCAGTGCATTTTTCACA	0.393													37	50	---	---	---	---	0	0
PANX3	116337	broad.mit.edu	37	11	124489288	124489288	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489288G>A	ENST00000284288.2	+	4	703	c.636G>A	c.(634-636)agG>agA	p.R212R		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	212					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ACCTCCTGAGGAACTCCCTCT	0.498													18	16	---	---	---	---	0	0
PANX3	116337	broad.mit.edu	37	11	124489568	124489568	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489568G>A	ENST00000284288.2	+	4	983	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	306					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ATCTGTCTATGAGATGCTCCC	0.443													21	45	---	---	---	---	0	0
PANX3	116337	broad.mit.edu	37	11	124489570	124489570	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489570G>A	ENST00000284288.2	+	4	985	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	306					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTGTCTATGAGATGCTCCCAG	0.453													22	46	---	---	---	---	0	0
PANX3	116337	broad.mit.edu	37	11	124489586	124489586	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489586G>C	ENST00000284288.2	+	4	1001	c.934G>C	c.(934-936)Gat>Cat	p.D312H		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	312					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCCAGCTTTTGATCTCCTCAG	0.433													17	47	---	---	---	---	0	0
PANX3	116337	broad.mit.edu	37	11	124489636	124489636	+	Silent	SNP	G	G	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr11:124489636G>C	ENST00000284288.2	+	4	1051	c.984G>C	c.(982-984)gtG>gtC	p.V328V		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	328					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		ACCTCAATGTGATCCTTCTTT	0.453													31	40	---	---	---	---	0	0
KL	9365	broad.mit.edu	37	13	33628320	33628320	+	Silent	SNP	T	T	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr13:33628320T>A	ENST00000380099.3	+	2	1244	c.1236T>A	c.(1234-1236)atT>atA	p.I412I	KL_ENST00000426690.2_Silent_p.I105I|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	412	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAATATTTATTGTGGAAAATG	0.403													7	73	---	---	---	---	0	0
LCP1	3936	broad.mit.edu	37	13	46701744	46701744	+	Silent	SNP	T	T	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr13:46701744T>C	ENST00000398576.2	-	19	2254	c.1866A>G	c.(1864-1866)aaA>aaG	p.K622K	LCP1_ENST00000323076.2_Silent_p.K622K|LCP1_ENST00000435666.2_Silent_p.K191K			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	622	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTTCATTCCTTTCCCCATGA	0.562			T	BCL6	NHL								4	45	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38061312	38061312	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr14:38061312T>C	ENST00000250448.2	-	2	738	c.677A>G	c.(676-678)gAc>gGc	p.D226G	FOXA1_ENST00000540786.1_Missense_Mutation_p.D193G|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	226					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GACGAAGCAGTCATTGAAGGA	0.607													11	12	---	---	---	---	0	0
TMC7	79905	broad.mit.edu	37	16	19020721	19020721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr16:19020721G>T	ENST00000304381.5	+	2	425	c.295G>T	c.(295-297)Gag>Tag	p.E99*	TMC7_ENST00000569532.1_Nonsense_Mutation_p.E99*|TMC7_ENST00000421369.3_5'UTR	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	99						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAACATCTCTGAGAAGCGGAG	0.468													4	152	---	---	---	---	0	0
CMIP	80790	broad.mit.edu	37	16	81735396	81735396	+	Silent	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr16:81735396G>A	ENST00000537098.3	+	16	1959	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	CMIP_ENST00000539778.2_Silent_p.L535L|CMIP_ENST00000398040.4_Silent_p.L476L|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	595						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						AGCGGGAGCTGAAGGAGCTGG	0.652													4	56	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696433	47696433	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr17:47696433G>C	ENST00000393331.3	-	7	860	c.390C>G	c.(388-390)gaC>gaG	p.D130E	SPOP_ENST00000393328.2_Missense_Mutation_p.D130E|SPOP_ENST00000504102.1_Missense_Mutation_p.D130E|SPOP_ENST00000347630.2_Missense_Mutation_p.D130E|SPOP_ENST00000503676.1_Missense_Mutation_p.D130E	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	130	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATCCCCAGTCTTTGCCTT	0.453										Prostate(2;0.17)			47	70	---	---	---	---	0	0
SMCHD1	23347	broad.mit.edu	37	18	2770030	2770030	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr18:2770030G>T	ENST00000320876.6	+	39	5228	c.4890G>T	c.(4888-4890)aaG>aaT	p.K1630N	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1630N	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1630					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CAAAAGAAAAGGACCAATTAT	0.269													17	34	---	---	---	---	0	0
BIRC7	79444	broad.mit.edu	37	20	61870925	61870925	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr20:61870925G>A	ENST00000217169.3	+	6	1079	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	BIRC7_ENST00000342412.6_Missense_Mutation_p.V271I|BIRC7_ENST00000395306.1_Missense_Mutation_p.V184I	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	289					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	p.V289I(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CAGAGCCCCCGTCCGCAGCCG	0.726													21	11	---	---	---	---	0	0
TBX1	6899	broad.mit.edu	37	22	19754359	19754359	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr22:19754359C>G	ENST00000332710.4	+	9	1586	c.1457C>G	c.(1456-1458)cCg>cGg	p.P486R	TBX1_ENST00000359500.3_Intron|TBX1_ENST00000329705.7_Intron	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	99					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GGAGCCGCGCCGCCCGGCTCC	0.761													4	8	---	---	---	---	0	0
PTRHD1	391356	broad.mit.edu	37	2	25013322	25013322	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr2:25013322T>G	ENST00000328379.5	-	2	385	c.381A>C	c.(379-381)gaA>gaC	p.E127D	PTRHD1_ENST00000487316.1_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1						translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						GGCCCACTTCTTCCTTGGGGT	0.493													23	43	---	---	---	---	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27907927	27907927	+	Silent	SNP	A	A	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr2:27907927A>G	ENST00000326019.6	+	10	2181	c.1899A>G	c.(1897-1899)gaA>gaG	p.E633E		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	633						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGCGTCCAGAACTCCCTCCAA	0.418													4	72	---	---	---	---	0	0
SLC25A38	54977	broad.mit.edu	37	3	39436020	39436020	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:39436020C>T	ENST00000273158.4	+	6	1122	c.745C>T	c.(745-747)Cca>Tca	p.P249S		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	249					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAGCTTTATCCACTGAAGTT	0.378													38	79	---	---	---	---	0	0
DIRC2	84925	broad.mit.edu	37	3	122545901	122545901	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:122545901T>C	ENST00000261038.5	+	3	1090	c.692T>C	c.(691-693)gTg>gCg	p.V231A		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	231					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ATAGAGGCTGTGTTATATGCA	0.378													28	82	---	---	---	---	0	0
DIRC2	84925	broad.mit.edu	37	3	122545904	122545904	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:122545904T>C	ENST00000261038.5	+	3	1093	c.695T>C	c.(694-696)tTa>tCa	p.L232S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	232					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GAGGCTGTGTTATATGCAGGT	0.383													27	79	---	---	---	---	0	0
LINC00969	0	broad.mit.edu	37	3	195391031	195391031	+	RNA	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:195391031C>T	ENST00000445430.1	+	0	557																											GCGGACACAGCCTCAAGTTTG	0.488													7	105	---	---	---	---	0	0
LRRC66	339977	broad.mit.edu	37	4	52860765	52860765	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:52860765G>C	ENST00000343457.3	-	4	2429	c.2423C>G	c.(2422-2424)tCa>tGa	p.S808*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	808						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATTCCCTGGTGACCTGGGCCA	0.493													3	23	---	---	---	---	0	0
METTL14	57721	broad.mit.edu	37	4	119609163	119609163	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:119609163G>T	ENST00000388822.5	+	2	319	c.152G>T	c.(151-153)tGc>tTc	p.C51F	METTL14_ENST00000506780.1_Missense_Mutation_p.A13S			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AGAGAAACTTGCAGGTCAGTC	0.408													10	12	---	---	---	---	0	0
PHF17	0	broad.mit.edu	37	4	129782991	129782991	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:129782991A>T	ENST00000226319.6	+	9	1394	c.1114A>T	c.(1114-1116)Agg>Tgg	p.R372W	PHF17_ENST00000512960.1_Missense_Mutation_p.R372W|PHF17_ENST00000511647.1_Missense_Mutation_p.R372W|PHF17_ENST00000413543.2_Missense_Mutation_p.R372W|PHF17_ENST00000452328.2_Missense_Mutation_p.R360W	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		372					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGCTCACATAGGAAACCCGA	0.557													8	135	---	---	---	---	0	0
PCDH18	54510	broad.mit.edu	37	4	138452054	138452054	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:138452054A>C	ENST00000344876.4	-	1	1575	c.1189T>G	c.(1189-1191)Tgt>Ggt	p.C397G	PCDH18_ENST00000412923.2_Missense_Mutation_p.C397G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.C177G|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	397	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGAAGCTTACAAACTATTTCT	0.343													3	70	---	---	---	---	0	0
CD180	4064	broad.mit.edu	37	5	66479763	66479763	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr5:66479763A>G	ENST00000256447.4	-	3	1065	c.908T>C	c.(907-909)tTg>tCg	p.L303S		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	303					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGTCAGATCCAATTCTTGGAG	0.453													25	55	---	---	---	---	0	0
DOPEY1	23033	broad.mit.edu	37	6	83850061	83850061	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr6:83850061C>A	ENST00000349129.2	+	23	5614	c.5354C>A	c.(5353-5355)tCa>tAa	p.S1785*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S1766*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.S1776*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1785					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTGATTCTTCAGAAAAGATG	0.408													7	84	---	---	---	---	0	0
TMEM248	55069	broad.mit.edu	37	7	66413640	66413640	+	Silent	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr7:66413640C>T	ENST00000341567.4	+	4	810	c.555C>T	c.(553-555)tgC>tgT	p.C185C		NM_017994.4	NP_060464.1			transmembrane protein 248																		TCACAGCCTGCATGACCCTCA	0.592													3	36	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113240989	113240989	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr8:113240989G>T	ENST00000297405.5	-	70	11204	c.10960C>A	c.(10960-10962)Caa>Aaa	p.Q3654K	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3614K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3485K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3584K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3654						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTTACCTTTGTTTATAAAGA	0.294										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	63	---	---	---	---	0	0
PNPLA7	375775	broad.mit.edu	37	9	140444626	140444626	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr9:140444626G>C	ENST00000406427.1	-	1	360	c.24C>G	c.(22-24)agC>agG	p.S8R	PNPLA7_ENST00000277531.4_Missense_Mutation_p.S8R	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	8					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATACCTGTGGGCTGTCATCTT	0.562													25	47	---	---	---	---	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917472	97917472	+	RNA	SNP	C	C	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr10:97917472C>G	ENST00000534948.1	+	0	2250							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GCCTATCAAACAAAATGTATG	0.398													27	56	---	---	---	---	0	0
TACC2	10579	broad.mit.edu	37	10	123844789	123844789	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr10:123844789G>T	ENST00000369005.1	+	4	3114	c.2774G>T	c.(2773-2775)aGt>aTt	p.S925I	TACC2_ENST00000453444.2_Missense_Mutation_p.S925I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S925I|TACC2_ENST00000334433.3_Missense_Mutation_p.S925I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S925I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	925						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTTTGGGAGAGTTCTCTGACA	0.537													25	50	---	---	---	---	0	0
KBTBD3	143879	broad.mit.edu	37	11	105929646	105929646	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:105929646T>C	ENST00000526793.1	-	2	338	c.179A>G	c.(178-180)gAt>gGt	p.D60G	KBTBD3_ENST00000531482.2_Missense_Mutation_p.D60G|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531837.1_Missense_Mutation_p.D60G	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	56	BTB.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GATTATTTCATCTTTCATAAT	0.313													16	38	---	---	---	---	0	0
THY1	7070	broad.mit.edu	37	11	119291595	119291595	+	Silent	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:119291595G>A	ENST00000284240.5	-	2	1060	c.21C>T	c.(19-21)atC>atT	p.I7I	USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000580275.1_Silent_p.I7I|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000528522.1_Silent_p.I7I|THY1_ENST00000527590.1_Intron|USP2-AS1_ENST00000498979.2_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	7					angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GCAGGAGAGCGATGCTGATGG	0.607													17	143	---	---	---	---	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128993409	128993409	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:128993409C>T	ENST00000310343.9	-	4	333	c.334G>A	c.(334-336)Ggt>Agt	p.G112S	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G38S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	112					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGAAAGTGACCTTTAGTGAAG	0.338													7	15	---	---	---	---	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562152	32562152	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:32562152C>A	ENST00000345122.3	+	2	2592	c.2277C>A	c.(2275-2277)caC>caA	p.H759Q	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H759Q	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	759					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAGTTAAACACAATTTGGATG	0.408													19	77	---	---	---	---	0	0
SSTR1	0	broad.mit.edu	37	14	38679570	38679570	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:38679570C>T	ENST00000267377.2	+	3	1593	c.976C>T	c.(976-978)Ctc>Ttc	p.L326F		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	326					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CTATGGCTTTCTCTCAGACAA	0.582													28	58	---	---	---	---	0	0
WDR73	84942	broad.mit.edu	37	15	85189499	85189499	+	Silent	SNP	A	A	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr15:85189499A>G	ENST00000434634.2	-	6	493	c.433T>C	c.(433-435)Ttg>Ctg	p.L145L	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	145										cervix(1)|large_intestine(1)|lung(1)	3						CCGGGTGCCAATGTGGAGAAG	0.562													6	32	---	---	---	---	0	0
ACAN	176	broad.mit.edu	37	15	89392695	89392695	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr15:89392695G>C	ENST00000439576.2	+	10	2133	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	ACAN_ENST00000559004.1_Missense_Mutation_p.E587Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E587Q|ACAN_ENST00000561243.1_Missense_Mutation_p.E587Q|ACAN_ENST00000558207.1_Missense_Mutation_p.E587Q	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	587					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACACGCCTTGAGCAGTTCAC	0.632													4	12	---	---	---	---	0	0
OTOP2	92736	broad.mit.edu	37	17	72926516	72926516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr17:72926516G>A	ENST00000331427.4	+	6	878	c.786G>A	c.(784-786)tgG>tgA	p.W262*	OTOP2_ENST00000580223.1_Nonsense_Mutation_p.W262*	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	262						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGTCATGTGGAAGAATGTGG	0.577													121	123	---	---	---	---	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691043	39691043	+	Silent	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr19:39691043G>A	ENST00000339852.4	+	5	628	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	202	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGCTGCTGGCGGCCGACCGCC	0.672													10	136	---	---	---	---	0	0
TOP1	7150	broad.mit.edu	37	20	39725936	39725936	+	Silent	SNP	T	T	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr20:39725936T>C	ENST00000361337.2	+	10	1057	c.807T>C	c.(805-807)acT>acC	p.T269T		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	269					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	ATGAATATACTACCAAGGAAA	0.368			T	NUP98	AML*								28	62	---	---	---	---	0	0
HMGCL	3155	broad.mit.edu	37	1	24130988	24130988	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr1:24130988C>T	ENST00000374483.4	-	9	1374	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	HMGCL_ENST00000374490.3_Missense_Mutation_p.V260M|HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.V189M			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	260					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		AGTCCTGCCACAGAAGAGTCC	0.537													15	44	---	---	---	---	0	0
KCNK2	3776	broad.mit.edu	37	1	215408426	215408426	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr1:215408426C>A	ENST00000444842.2	+	7	1369	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M	KCNK2_ENST00000391894.2_Missense_Mutation_p.L392M|KCNK2_ENST00000391895.2_Missense_Mutation_p.L403M	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	407	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GAGTATCTATCTGAATGGTTT	0.478													10	68	---	---	---	---	0	0
PIK3CB	5291	broad.mit.edu	37	3	138376590	138376590	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr3:138376590A>T	ENST00000477593.1	-	21	2957	c.2884T>A	c.(2884-2886)Tat>Aat	p.Y962N	PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y962N|PIK3CB_ENST00000544716.1_Missense_Mutation_p.Y413N			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	962	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATGAAATCATAGGTAAGAATA	0.383													4	37	---	---	---	---	0	0
FAM13A	10144	broad.mit.edu	37	4	89668954	89668954	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr4:89668954T>C	ENST00000264344.5	-	18	2417	c.2210A>G	c.(2209-2211)cAg>cGg	p.Q737R	FAM13A_ENST00000513837.1_Missense_Mutation_p.Q383R|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q411R|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q411R|FAM13A_ENST00000511976.1_Missense_Mutation_p.Q323R|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q397R	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	737					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GTTGCTTCGCTGCCGCATCCT	0.393													17	69	---	---	---	---	0	0
1-Mar	55016	broad.mit.edu	37	4	164534558	164534558	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr4:164534558G>C	ENST00000339875.5	-	1	128	c.99C>G	c.(97-99)aaC>aaG	p.N33K	MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	50	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGAGAAACAAGTTAGATAATT	0.438													17	36	---	---	---	---	0	0
KCNK5	8645	broad.mit.edu	37	6	39159466	39159466	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr6:39159466C>T	ENST00000359534.3	-	5	1038	c.700G>A	c.(700-702)Ggg>Agg	p.G234R		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	234					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CAGGCCAGCCCCAAGTAGATC	0.577													17	62	---	---	---	---	0	0
MTMR7	9108	broad.mit.edu	37	8	17188685	17188685	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr8:17188685C>T	ENST00000180173.5	-	7	873	c.839G>A	c.(838-840)aGg>aAg	p.R280K	MTMR7_ENST00000521857.1_Missense_Mutation_p.R280K	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	280	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CAGACTGTTCCTCATGACATG	0.383													7	45	---	---	---	---	0	0
BAI1	575	broad.mit.edu	37	8	143565394	143565394	+	Silent	SNP	G	G	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr8:143565394G>A	ENST00000517894.1	+	12	3081	c.2187G>A	c.(2185-2187)gaG>gaA	p.E729E	BAI1_ENST00000323289.5_Silent_p.E729E			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	729					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAAGTGGGAGGAGGCCCAGC	0.622													5	95	---	---	---	---	0	0
TTC18	118491	broad.mit.edu	37	10	75029417	75029417	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr10:75029417G>C	ENST00000310715.3	-	26	3312	c.3192C>G	c.(3190-3192)aaC>aaG	p.N1064K	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.N1034K|TTC18_ENST00000340329.3_Missense_Mutation_p.N304K|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000401621.2_Missense_Mutation_p.N1064K|TTC18_ENST00000355577.3_Missense_Mutation_p.N533K	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	1064							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CAGCATTGTAGTTGTTCAATG	0.463													5	37	---	---	---	---	0	0
SNX19	399979	broad.mit.edu	37	11	130775905	130775905	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr11:130775905C>T	ENST00000265909.4	-	7	2955	c.2386G>A	c.(2386-2388)Gac>Aac	p.D796N	SNX19_ENST00000539184.1_Missense_Mutation_p.D239N|SNX19_ENST00000534726.1_Missense_Mutation_p.D36N|SNX19_ENST00000528555.1_Missense_Mutation_p.D176N|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000545537.1_Missense_Mutation_p.D36N|SNX19_ENST00000533214.1_Missense_Mutation_p.D779N|SNX19_ENST00000530356.1_Missense_Mutation_p.D176N	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	796					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACGCAACTGTCCACACGTCCT	0.527													9	40	---	---	---	---	0	0
GUCY2C	2984	broad.mit.edu	37	12	14766078	14766078	+	Silent	SNP	G	G	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr12:14766078G>A	ENST00000261170.3	-	27	3331	c.3195C>T	c.(3193-3195)acC>acT	p.T1065T	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1065					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.T1065T(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCTTGTCTGTGGTATTCAGCT	0.438													58	98	---	---	---	---	0	0
PRKAB1	5564	broad.mit.edu	37	12	120110138	120110138	+	Silent	SNP	G	G	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr12:120110138G>A	ENST00000229328.5	+	2	684	c.192G>A	c.(190-192)caG>caA	p.Q64Q	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Silent_p.Q64Q	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	64					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TGGCCTGGCAGCATGATCTGG	0.512													4	121	---	---	---	---	0	0
CIT	11113	broad.mit.edu	37	12	120214536	120214536	+	Silent	SNP	A	A	C			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr12:120214536A>C	ENST00000392521.2	-	14	1831	c.1776T>G	c.(1774-1776)tcT>tcG	p.S592S	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.S592S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	592					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGCAAGCCGAGACTCTCTCA	0.468													7	73	---	---	---	---	0	0
CES1	1066	broad.mit.edu	37	16	55866955	55866955	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr16:55866955C>A	ENST00000422046.2	-	1	294	c.13G>T	c.(13-15)Gcc>Tcc	p.A5S	CES1_ENST00000360526.3_Missense_Mutation_p.A5S|CES1_ENST00000361503.4_Missense_Mutation_p.A5S			P23141	EST1_HUMAN	carboxylesterase 1	5				RAFI -> PALV (in Ref. 3; BAA04650, 8; BAC87749/BAC87751, 9; BAF83312/BAF84898 and 11; AAH12418).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	AGGATAAAGGCACGGAGCCAC	0.602													5	11	---	---	---	---	0	0
GOT2	2806	broad.mit.edu	37	16	58752108	58752108	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr16:58752108C>T	ENST00000245206.5	-	6	822	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.V189M	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	232					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACCTTCACCACTGTTGCTATT	0.498													9	55	---	---	---	---	0	0
TRIM37	4591	broad.mit.edu	37	17	57140009	57140009	+	Splice_Site	SNP	G	G	C			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr17:57140009G>C	ENST00000376149.3	-	11	1304	c.495C>G	c.(493-495)agC>agG	p.S165R	TRIM37_ENST00000262294.7_Splice_Site_p.S287R|TRIM37_ENST00000393066.3_Splice_Site_p.S287R|TRIM37_ENST00000393065.2_Splice_Site_p.S253R			O94972	TRI37_HUMAN	tripartite motif containing 37	287						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GACGCAAAGTGCTAACGAAAA	0.383									Mulibrey Nanism				3	19	---	---	---	---	0	0
BIRC5	332	broad.mit.edu	37	17	76212836	76212836	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr17:76212836G>T	ENST00000301633.4	+	4	513	c.382G>T	c.(382-384)Gac>Tac	p.D128Y	AC087645.1_ENST00000600484.1_Missense_Mutation_p.S254Y|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000350051.3_Missense_Mutation_p.D105Y|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000589892.1_3'UTR	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	105				A -> V (in Ref. 9; CAG46540).	anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			TTTGAAACTGGACAGAGAAAG	0.388													19	40	---	---	---	---	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001535	52001535	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr19:52001535G>T	ENST00000291707.3	-	5	1197	c.1142C>A	c.(1141-1143)aCa>aAa	p.T381K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.T263K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	381	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTCAAGGTTGTGGATGCTGT	0.557													5	1	---	---	---	---	0	0
IL3RA	3563	broad.mit.edu	37	X	1499970	1499970	+	Silent	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chrX:1499970C>T	ENST00000331035.4	+	11	1384	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	IL3RA_ENST00000381469.2_Silent_p.I267I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	345						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AAGACCCCATCGGTGACAGCT	0.567													89	159	---	---	---	---	0	0
KLHL15	80311	broad.mit.edu	37	X	24007025	24007025	+	Silent	SNP	A	A	G			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chrX:24007025A>G	ENST00000328046.8	-	4	1083	c.828T>C	c.(826-828)cgT>cgC	p.R276R		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	276										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GTTTTGCAGAACGGATGCGGC	0.433													5	86	---	---	---	---	0	0
KLHL20	27252	broad.mit.edu	37	1	173721044	173721044	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:173721044C>A	ENST00000209884.4	+	4	875	c.739C>A	c.(739-741)Cgt>Agt	p.R247S	KLHL20_ENST00000546011.1_Missense_Mutation_p.R58S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	247	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TCAGGAAAGACGTCCTCAATT	0.443													13	26	---	---	---	---	0	0
CD34	947	broad.mit.edu	37	1	208062058	208062058	+	Missense_Mutation	SNP	C	C	T	rs146542924		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:208062058C>T	ENST00000356522.4	-	7	1262	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CD34_ENST00000537704.1_Missense_Mutation_p.R179H|CD34_ENST00000310833.7_Missense_Mutation_p.R314H|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.R156H	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	314					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCAGCTGCGGCGATTCATCAG	0.562													85	104	---	---	---	---	0	0
RAB4A	5867	broad.mit.edu	37	1	229431652	229431652	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:229431652C>T	ENST00000366690.4	+	4	493	c.285C>T	c.(283-285)atC>atT	p.I95I	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	90							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				TCTATGATATCACCAGGTAAT	0.562													16	25	---	---	---	---	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367122	37367122	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:37367122A>G	ENST00000361924.2	+	14	4119	c.3745A>G	c.(3745-3747)Agg>Ggg	p.R1249G	GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1271G|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1249	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CATTCTTTCTAGGATTTCTCA	0.348													30	46	---	---	---	---	0	0
TFG	10342	broad.mit.edu	37	3	100447586	100447586	+	Missense_Mutation	SNP	G	G	C	rs77118429	by1000genomes	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:100447586G>C	ENST00000240851.4	+	4	639	c.299G>C	c.(298-300)aGt>aCt	p.S100T	TFG_ENST00000476228.1_Missense_Mutation_p.S100T|TFG_ENST00000418917.2_Missense_Mutation_p.S100T|TFG_ENST00000490574.1_Missense_Mutation_p.S100T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	100					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CTTGAATCAAGTCAGGTGAAA	0.368			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								45	40	---	---	---	---	0	0
CDH9	1007	broad.mit.edu	37	5	26902661	26902661	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr5:26902661C>A	ENST00000231021.4	-	7	1349	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	393	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACATCTTCATCTACTTCTATC	0.378													5	70	---	---	---	---	0	0
CDH6	1004	broad.mit.edu	37	5	31318075	31318075	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr5:31318075C>T	ENST00000514738.1	+	11	2191	c.1761C>T	c.(1759-1761)ggC>ggT	p.G587G	CDH6_ENST00000265071.2_Intron			P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGTGAGGGGCTCACACTGTT	0.522													20	21	---	---	---	---	0	0
EYS	346007	broad.mit.edu	37	6	66115238	66115238	+	Silent	SNP	T	T	G			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr6:66115238T>G	ENST00000503581.1	-	6	1422	c.885A>C	c.(883-885)gcA>gcC	p.A295A	EYS_ENST00000393380.2_Silent_p.A295A|EYS_ENST00000342421.5_Silent_p.A295A|EYS_ENST00000370621.3_Silent_p.A295A|EYS_ENST00000370616.2_Silent_p.A295A|EYS_ENST00000370618.3_Silent_p.A295A	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	295					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CACAAGGTTTTGCTGACACCT	0.363													56	65	---	---	---	---	0	0
DDX56	54606	broad.mit.edu	37	7	44611159	44611159	+	Silent	SNP	T	T	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:44611159T>C	ENST00000258772.5	-	6	928	c.822A>G	c.(820-822)ctA>ctG	p.L274L	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.L274L	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	274	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AGAACAGGCGTAGCCGGTAAC	0.512													17	35	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151877201	151877201	+	Nonsense_Mutation	SNP	A	A	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:151877201A>C	ENST00000355193.2	-	37	7378	c.7160T>G	c.(7159-7161)tTa>tGa	p.L2387*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.L2387*					lysine (K)-specific methyltransferase 2C																		GATTTCACGTAACTTCTGCCG	0.443													55	69	---	---	---	---	0	0
TTC39B	158219	broad.mit.edu	37	9	15185290	15185290	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr9:15185290G>C	ENST00000512701.2	-	16	1638	c.1602C>G	c.(1600-1602)atC>atG	p.I534M	TTC39B_ENST00000507285.1_Missense_Mutation_p.I369M|TTC39B_ENST00000355694.2_Missense_Mutation_p.I468M|TTC39B_ENST00000507993.1_Missense_Mutation_p.I369M|TTC39B_ENST00000380850.4_Missense_Mutation_p.I521M|TTC39B_ENST00000297615.5_Missense_Mutation_p.I465M			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B								binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GGGCAGGTAAGATGAGCTTCA	0.438													5	82	---	---	---	---	0	0
ASTN2	23245	broad.mit.edu	37	9	119903633	119903633	+	Silent	SNP	C	C	G			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr9:119903633C>G	ENST00000313400.4	-	4	1240	c.1140G>C	c.(1138-1140)ggG>ggC	p.G380G	ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.G380G			O75129	ASTN2_HUMAN	astrotactin 2	380						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCTTCCTCTTCCCTGCCGATG	0.577													19	17	---	---	---	---	0	0
FANK1	92565	broad.mit.edu	37	10	127677139	127677139	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr10:127677139G>C	ENST00000368695.1	+	3	315	c.193G>C	c.(193-195)Gtt>Ctt	p.V65L	FANK1_ENST00000368689.1_Missense_Mutation_p.V65L|FANK1_ENST00000368693.1_Missense_Mutation_p.V71L|FANK1_ENST00000449042.2_Missense_Mutation_p.V65L	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	71	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AACGAAGCATGTTGTTGAAGG	0.512													6	113	---	---	---	---	0	0
ZNF143	7702	broad.mit.edu	37	11	9500066	9500066	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:9500066G>A	ENST00000396602.2	+	6	622	c.503G>A	c.(502-504)gGt>gAt	p.G168D	ZNF143_ENST00000299606.2_Missense_Mutation_p.G140D|ZNF143_ENST00000396604.1_Missense_Mutation_p.G167D|ZNF143_ENST00000396597.3_Missense_Mutation_p.G137D|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167D	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	168					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACAGTGGCAGGTCTGCACACT	0.493													35	41	---	---	---	---	0	0
OR4C3	256144	broad.mit.edu	37	11	48347461	48347461	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:48347461G>A	ENST00000319856.4	+	1	990	c.969G>A	c.(967-969)atG>atA	p.M323I		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AAAATGCCATGAGAAAGCTCT	0.328													14	24	---	---	---	---	0	0
TEX26	122046	broad.mit.edu	37	13	31531142	31531142	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr13:31531142A>T	ENST00000380473.3	+	4	458	c.445A>T	c.(445-447)Aga>Tga	p.R149*	TEX26_ENST00000530916.1_3'UTR	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	149																	CCTTACTAAGAGAGACTTTGT	0.438													24	72	---	---	---	---	0	0
ISM2	145501	broad.mit.edu	37	14	77948909	77948909	+	Silent	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr14:77948909G>A	ENST00000393684.3	-	5	856	c.465C>T	c.(463-465)ccC>ccT	p.P155P	ISM2_ENST00000342219.4_Silent_p.P243P|ISM2_ENST00000429906.1_Silent_p.P162P|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000412904.1_Silent_p.P162P			Q6H9L7	ISM2_HUMAN	isthmin 2	243						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ACCAGAGGGCGGGCAGCCAGC	0.607													27	37	---	---	---	---	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081526	53081526	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:53081526C>T	ENST00000305901.5	-	1	683	c.556G>A	c.(556-558)Ggt>Agt	p.G186S	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	186					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTGCCCAGACCGGAGCTGGAG	0.667													27	32	---	---	---	---	0	0
ACSBG1	23205	broad.mit.edu	37	15	78526789	78526789	+	Silent	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:78526789G>A	ENST00000258873.4	-	1	260	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	19					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGCTGTCCAGCATGCTGGGG	0.562													76	105	---	---	---	---	0	0
ITSN1	6453	broad.mit.edu	37	21	35190641	35190641	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr21:35190641A>C	ENST00000381318.3	+	23	3086	c.2798A>C	c.(2797-2799)aAt>aCt	p.N933T	ITSN1_ENST00000399367.3_Missense_Mutation_p.N928T|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.N933T|ITSN1_ENST00000437442.2_Missense_Mutation_p.N928T|ITSN1_ENST00000399355.2_Missense_Mutation_p.N933T|ITSN1_ENST00000381285.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399326.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399352.1_Missense_Mutation_p.N928T|ITSN1_ENST00000399353.1_Missense_Mutation_p.N891T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.N928T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	933	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AACCACTTAAATTTTAACAAA	0.453													6	59	---	---	---	---	0	0
GLUD2	2747	broad.mit.edu	37	X	120182329	120182329	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chrX:120182329G>A	ENST00000328078.1	+	1	868	c.791G>A	c.(790-792)gGa>gAa	p.G264E		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	264					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCCAAGGGGGAATCCATGGA	0.478													32	4	---	---	---	---	0	0
CSMD2	114784	broad.mit.edu	37	1	34006159	34006159	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:34006159A>C	ENST00000373381.4	-	60	9773	c.9597T>G	c.(9595-9597)aaT>aaG	p.N3199K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3175	Sushi 26.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCAGGACCCATTTCCCTCAC	0.582													12	42	---	---	---	---	0	0
PTCH2	8643	broad.mit.edu	37	1	45295346	45295346	+	Silent	SNP	A	A	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:45295346A>T	ENST00000447098.2	-	8	1034	c.1023T>A	c.(1021-1023)atT>atA	p.I341I	PTCH2_ENST00000372192.3_Silent_p.I341I	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	341					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACTCCAGCCAATGTCATGTG	0.612									Basal Cell Nevus syndrome				7	71	---	---	---	---	0	0
CD160	11126	broad.mit.edu	37	1	145699056	145699056	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:145699056T>G	ENST00000369290.1	-	3	265	c.108A>C	c.(106-108)caA>caC	p.Q36H	CD160_ENST00000369288.2_Missense_Mutation_p.Q145H|CD160_ENST00000401557.3_Missense_Mutation_p.Q145H|CD160_ENST00000235933.6_Missense_Mutation_p.Q145H			O95971	BY55_HUMAN	CD160 molecule	145	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGTGTTGTCTTTGTTTCAATC	0.468													15	71	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	186056778	186056778	+	Splice_Site	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:186056778G>A	ENST00000271588.4	+	60	9592		c.e60+1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAGCTGAGGTGCATCTTTT	0.403													24	64	---	---	---	---	0	0
URB2	9816	broad.mit.edu	37	1	229773318	229773318	+	Silent	SNP	T	T	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:229773318T>A	ENST00000258243.2	+	4	3094	c.2958T>A	c.(2956-2958)ctT>ctA	p.L986L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	986						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTAGGTTCCTTATTGAGATGG	0.443													14	125	---	---	---	---	0	0
DNAH7	56171	broad.mit.edu	37	2	196852857	196852857	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr2:196852857T>A	ENST00000312428.6	-	13	1550	c.1450A>T	c.(1450-1452)Agt>Tgt	p.S484C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	484	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGTGCCACACTCTCTTTCATA	0.373													4	80	---	---	---	---	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907134	164907134	+	Silent	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr3:164907134G>A	ENST00000475390.1	-	2	1928	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	SLITRK3_ENST00000241274.3_Silent_p.I495I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	495						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGCAGGCTGGATTTCCCGGA	0.488										HNSCC(40;0.11)			4	37	---	---	---	---	0	0
LPHN3	23284	broad.mit.edu	37	4	62813885	62813885	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr4:62813885A>T	ENST00000512091.2	+	16	3239	c.2492A>T	c.(2491-2493)tAt>tTt	p.Y831F	LPHN3_ENST00000509896.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y831F			Q9HAR2	LPHN3_HUMAN	latrophilin 3		GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATGACAGGTTATTGGTCAACA	0.403													3	38	---	---	---	---	0	0
BANK1	55024	broad.mit.edu	37	4	102981540	102981540	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr4:102981540T>G	ENST00000504592.1	+	16	2515	c.2097T>G	c.(2095-2097)atT>atG	p.I699M	BANK1_ENST00000444316.2_Missense_Mutation_p.I684M|BANK1_ENST00000322953.4_Missense_Mutation_p.I714M|BANK1_ENST00000428908.1_Missense_Mutation_p.I581M|BANK1_ENST00000508653.1_Missense_Mutation_p.I581M			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	714					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGGAAATGATTCAGCAGGTAA	0.418													13	47	---	---	---	---	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249427	123249427	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr4:123249427T>G	ENST00000264501.4	+	66	11537	c.11164T>G	c.(11164-11166)Ttg>Gtg	p.L3722V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3722V			Q2LD37	K1109_HUMAN	KIAA1109	3722					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGATGACAGTTTGTCTTCTAC	0.438													4	79	---	---	---	---	0	0
PCDHA1	0	broad.mit.edu	37	5	140167805	140167805	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr5:140167805C>T	ENST00000504120.2	+	1	1930	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R644C|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTTGTCGCGCTACCGCCT	0.662													13	61	---	---	---	---	0	0
BYSL	705	broad.mit.edu	37	6	41889339	41889339	+	Silent	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr6:41889339G>A	ENST00000230340.4	+	1	414	c.39G>A	c.(37-39)caG>caA	p.Q13Q		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	13					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGGGGTCAGGAAAAACATG	0.647											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	24	---	---	---	---	0	0
IQUB	154865	broad.mit.edu	37	7	123152133	123152133	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr7:123152133C>A	ENST00000466202.1	-	2	838	c.262G>T	c.(262-264)Gtt>Ttt	p.V88F	IQUB_ENST00000434450.1_Missense_Mutation_p.V88F|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.V88F	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	88								p.V88F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTATATGAAACTTGTCTTGGT	0.398													11	147	---	---	---	---	0	0
CCDC82	79780	broad.mit.edu	37	11	96117466	96117466	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr11:96117466T>G	ENST00000278520.5	-	3	874	c.446A>C	c.(445-447)cAg>cCg	p.Q149P	CCDC82_ENST00000542662.1_Missense_Mutation_p.Q149P|CCDC82_ENST00000423339.2_Missense_Mutation_p.Q149P			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	149			Q -> E (in dbSNP:rs17851661).				protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATGTTTTTCCTGATCATCCTC	0.318													14	118	---	---	---	---	0	0
CASC1	55259	broad.mit.edu	37	12	25274826	25274826	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr12:25274826T>C	ENST00000354189.5	-	11	1309	c.1274A>G	c.(1273-1275)aAt>aGt	p.N425S	CASC1_ENST00000320267.9_Missense_Mutation_p.N361S|CASC1_ENST00000395990.2_Missense_Mutation_p.N321S|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.N367S|CASC1_ENST00000537577.1_Missense_Mutation_p.N249S|CASC1_ENST00000545133.1_Missense_Mutation_p.N302S	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	361										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTCAGAAGAATTCTCTACCAG	0.338													24	134	---	---	---	---	0	0
AMER2	219287	broad.mit.edu	37	13	25743973	25743973	+	Silent	SNP	T	T	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr13:25743973T>C	ENST00000357816.2	-	3	1903	c.1428A>G	c.(1426-1428)ccA>ccG	p.P476P	AMER2_ENST00000381853.3_Silent_p.P476P|AMER2_ENST00000515384.1_Silent_p.P595P					APC membrane recruitment protein 2																		GTGTTCGCAGTGGACAGGTGA	0.572													4	88	---	---	---	---	0	0
EML5	161436	broad.mit.edu	37	14	89148373	89148373	+	Silent	SNP	T	T	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr14:89148373T>C	ENST00000554922.1	-	21	3233	c.2985A>G	c.(2983-2985)ggA>ggG	p.G995G	EML5_ENST00000352093.5_Silent_p.G957G|EML5_ENST00000380664.5_Silent_p.G995G	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	995						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTTCCATGTGTCCCTATAAAG	0.353													9	72	---	---	---	---	0	0
RYR3	6263	broad.mit.edu	37	15	33954430	33954430	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr15:33954430G>A	ENST00000389232.4	+	35	4769	c.4699G>A	c.(4699-4701)Gcg>Acg	p.A1567T	RYR3_ENST00000415757.3_Missense_Mutation_p.A1567T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1567	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTCTACAGCGCGGTGTGCGC	0.607													3	12	---	---	---	---	0	0
FTO	79068	broad.mit.edu	37	16	53913760	53913760	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr16:53913760C>G	ENST00000471389.1	+	6	1202	c.980C>G	c.(979-981)tCa>tGa	p.S327*	FTO_ENST00000394647.3_Nonsense_Mutation_p.S31*	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	327	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CAACAGTGCTCAACAGGAACC	0.413													3	79	---	---	---	---	0	0
SMURF2	64750	broad.mit.edu	37	17	62589625	62589625	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr17:62589625T>G	ENST00000262435.9	-	4	454	c.267A>C	c.(265-267)caA>caC	p.Q89H	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	89	C2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ATCCAGCACCTTGTTTCTTAT	0.398													14	75	---	---	---	---	0	0
ZNF823	55552	broad.mit.edu	37	19	11832823	11832823	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:11832823C>A	ENST00000341191.6	-	4	1679	c.1526G>T	c.(1525-1527)aGt>aTt	p.S509I	ZNF823_ENST00000545749.1_Missense_Mutation_p.S327I	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ACTGAAATGACTGAAGGCTTT	0.378										HNSCC(68;0.2)			9	76	---	---	---	---	0	0
SUGP2	10147	broad.mit.edu	37	19	19115404	19115404	+	Silent	SNP	C	C	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:19115404C>T	ENST00000601879.1	-	7	2799	c.2502G>A	c.(2500-2502)gtG>gtA	p.V834V	SUGP2_ENST00000337018.6_Silent_p.V834V|SUGP2_ENST00000600377.1_Silent_p.V848V|SUGP2_ENST00000456085.2_Silent_p.V603V|SUGP2_ENST00000452918.2_Silent_p.V834V			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	834					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATAGTTCAAACACTTTCTTTC	0.458													24	58	---	---	---	---	0	0
NLRP4	147945	broad.mit.edu	37	19	56369968	56369968	+	Silent	SNP	T	T	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:56369968T>A	ENST00000301295.6	+	3	1631	c.1209T>A	c.(1207-1209)gcT>gcA	p.A403A	NLRP4_ENST00000587891.1_Silent_p.A328A|NLRP4_ENST00000346986.5_Silent_p.A403A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	403	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCCCTGGCTGCAGAGGGTA	0.572													5	63	---	---	---	---	0	0
LZTS3	0	broad.mit.edu	37	20	3145297	3145297	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr20:3145297T>G	ENST00000329152.3	-	3	3222	c.1825A>C	c.(1825-1827)Aag>Cag	p.K609Q	LZTS3_ENST00000360342.3_Missense_Mutation_p.K563Q|LZTS3_ENST00000337576.5_Missense_Mutation_p.K563Q																							ACCTTCTCCTTCTCCTCCAGC	0.711													10	14	---	---	---	---	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37485725	37485725	+	Silent	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr22:37485725G>A	ENST00000381792.2	-	7	869	c.729C>T	c.(727-729)ccC>ccT	p.P243P	TMPRSS6_ENST00000406725.1_Silent_p.P243P|TMPRSS6_ENST00000346753.3_Silent_p.P252P|TMPRSS6_ENST00000442782.2_Silent_p.P252P|TMPRSS6_ENST00000406856.1_Silent_p.P243P			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	252	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGAGGTCCTTGGGGCCCTGCA	0.667													3	10	---	---	---	---	0	0
EPHB2	2048	broad.mit.edu	37	1	23111211	23111211	+	Silent	SNP	C	C	T			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr1:23111211C>T	ENST00000400191.3	+	3	471	c.453C>T	c.(451-453)gaC>gaT	p.D151D	EPHB2_ENST00000544305.1_Silent_p.D151D|EPHB2_ENST00000374632.3_Silent_p.D151D|EPHB2_ENST00000374627.1_Silent_p.D145D|EPHB2_ENST00000374630.3_Silent_p.D151D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	151					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCAGGTGGACCTGGGTGGCC	0.597													12	11	---	---	---	---	0	0
RPRD2	23248	broad.mit.edu	37	1	150444279	150444279	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr1:150444279C>G	ENST00000401000.4	+	10	2842	c.2777C>G	c.(2776-2778)aCt>aGt	p.T926S	RPRD2_ENST00000369068.4_Missense_Mutation_p.T952S|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	952	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAATCTACCACTGGGCATCTC	0.527													128	134	---	---	---	---	0	0
GPR125	166647	broad.mit.edu	37	4	22389479	22389479	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr4:22389479A>G	ENST00000334304.5	-	19	4084	c.3815T>C	c.(3814-3816)gTt>gCt	p.V1272A	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1272					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTCAAGTTCAACCACAGCTGG	0.438													14	21	---	---	---	---	0	0
PDE10A	10846	broad.mit.edu	37	6	165829699	165829699	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr6:165829699A>T	ENST00000366882.1	-	13	1193	c.1039T>A	c.(1039-1041)Tat>Aat	p.Y347N	PDE10A_ENST00000539869.2_Missense_Mutation_p.Y357N|PDE10A_ENST00000354448.4_Missense_Mutation_p.Y347N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	347	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GGGTCTGCATAGGCATCTGGA	0.448													48	66	---	---	---	---	0	0
ABCA13	154664	broad.mit.edu	37	7	48318265	48318265	+	Silent	SNP	C	C	T			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr7:48318265C>T	ENST00000435803.1	+	18	7498	c.7474C>T	c.(7474-7476)Ctg>Ttg	p.L2492L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2492					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAGTCACGTCCTGAAACCCCT	0.398													6	205	---	---	---	---	0	0
ZNF398	0	broad.mit.edu	37	7	148851149	148851149	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr7:148851149T>C	ENST00000475153.1	+	2	404	c.137T>C	c.(136-138)gTg>gCg	p.V46A	ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.V51A|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	46					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTGTGGACAGTGGTGGCCGCC	0.592													37	23	---	---	---	---	0	0
PNOC	5368	broad.mit.edu	37	8	28186778	28186778	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr8:28186778C>A	ENST00000301908.3	+	2	312	c.104C>A	c.(103-105)gCc>gAc	p.A35D	RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	35					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CTCCACCCAGCCCTGGACAGC	0.577													3	23	---	---	---	---	0	0
PHF2	5253	broad.mit.edu	37	9	96420442	96420442	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr9:96420442G>C	ENST00000359246.4	+	10	1530	c.1163G>C	c.(1162-1164)gGg>gCg	p.G388A	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	388					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CACAAATCTGGGAAGCAGCTG	0.567													19	19	---	---	---	---	0	0
NUTM2A	728118	broad.mit.edu	37	10	88988143	88988143	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr10:88988143G>A	ENST00000381689.4	+	2	837	c.506G>A	c.(505-507)gGg>gAg	p.G169E	NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381707.2_Missense_Mutation_p.G169E					NUT family member 2A																		GTGACTGCAGGGGCTCCTCCA	0.687													12	38	---	---	---	---	0	0
EXT2	2132	broad.mit.edu	37	11	44146380	44146380	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr11:44146380A>C	ENST00000395673.3	+	5	940	c.884A>C	c.(883-885)cAt>cCt	p.H295P	EXT2_ENST00000343631.3_Missense_Mutation_p.H262P|EXT2_ENST00000533608.1_Missense_Mutation_p.H262P|EXT2_ENST00000358681.4_Missense_Mutation_p.H262P	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	262					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTGGGTCTCCATCCTGAGTAC	0.473			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				14	2	---	---	---	---	0	0
C12orf10	60314	broad.mit.edu	37	12	53693739	53693739	+	Splice_Site	SNP	T	T	C			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr12:53693739T>C	ENST00000267103.5	+	1	268		c.e1+2		C12orf10_ENST00000548632.1_Splice_Site|RP11-680A11.5_ENST00000550263.1_RNA	NM_021640.3	NP_067653	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10											cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GAGTACCGGGTACGGTCCGCG	0.647											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	15	---	---	---	---	0	0
TCTN2	79867	broad.mit.edu	37	12	124163788	124163788	+	Silent	SNP	T	T	G			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr12:124163788T>G	ENST00000303372.5	+	5	644	c.516T>G	c.(514-516)ccT>ccG	p.P172P	TCTN2_ENST00000426174.2_Silent_p.P171P	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	172	Cys-rich.				cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GCCCTTGTCCTTGTAATTTAA	0.448													39	4	---	---	---	---	0	0
ISM2	145501	broad.mit.edu	37	14	77950790	77950790	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr14:77950790G>A	ENST00000393684.3	-	4	630	c.239C>T	c.(238-240)gCa>gTa	p.A80V	ISM2_ENST00000493585.1_Missense_Mutation_p.A168V|ISM2_ENST00000342219.4_Missense_Mutation_p.A168V|ISM2_ENST00000412904.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.A87V			Q6H9L7	ISM2_HUMAN	isthmin 2	168						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGTCAGGGCTGCTGGCTCAGT	0.612													28	39	---	---	---	---	0	0
BLM	641	broad.mit.edu	37	15	91346839	91346839	+	Silent	SNP	G	G	A			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr15:91346839G>A	ENST00000355112.3	+	18	3565	c.3447G>A	c.(3445-3447)ctG>ctA	p.L1149L	BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1149					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TTAAAAAGCTGATACTTGACA	0.378			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				21	71	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr17:47696426A>C	ENST00000393331.3	-	7	867	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			39	62	---	---	---	---	0	0
CACNA1A	773	broad.mit.edu	37	19	13323529	13323529	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr19:13323529C>T	ENST00000360228.5	-	41	5965	c.5966G>A	c.(5965-5967)cGc>cAc	p.R1989H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1990H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1990					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGGCTCCATGCGCTGGAACAT	0.667													8	4	---	---	---	---	0	0
ZNF230	7773	broad.mit.edu	37	19	44515050	44515050	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr19:44515050A>G	ENST00000429154.2	+	5	1087	c.859A>G	c.(859-861)Aag>Gag	p.K287E		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AATATGTGGTAAGAGCTTCTG	0.433													54	63	---	---	---	---	0	0
CDH22	64405	broad.mit.edu	37	20	44869670	44869670	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr20:44869670A>C	ENST00000372262.3	-	2	882	c.482T>G	c.(481-483)aTc>aGc	p.I161S	CDH22_ENST00000537909.1_Missense_Mutation_p.I161S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	161	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACTGTCATTGATGTCCTGCAC	0.642													14	74	---	---	---	---	0	0
MTG2	26164	broad.mit.edu	37	20	60775813	60775813	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr20:60775813G>A	ENST00000370823.3	+	7	919	c.901G>A	c.(901-903)Gag>Aag	p.E301K	MTG2_ENST00000536470.1_Missense_Mutation_p.E73K|MTG2_ENST00000436421.2_Missense_Mutation_p.E143K	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		CAGGCACATCGAGCGCTGCCG	0.567													119	195	---	---	---	---	0	0
TLR8	51311	broad.mit.edu	37	X	12939904	12939904	+	Silent	SNP	T	T	G			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chrX:12939904T>G	ENST00000218032.6	+	2	2832	c.2745T>G	c.(2743-2745)ctT>ctG	p.L915L	TLR8_ENST00000311912.5_Silent_p.L933L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	915	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACGTTCTCCTTTGTCTAGAGG	0.443													50	2	---	---	---	---	0	0
PASD1	139135	broad.mit.edu	37	X	150791530	150791530	+	Silent	SNP	C	C	T			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chrX:150791530C>T	ENST00000370357.4	+	7	785	c.540C>T	c.(538-540)ctC>ctT	p.L180L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	180						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGACTCAGCTCCTGCAGGTGG	0.527													5	47	---	---	---	---	0	0
PYHIN1	149628	broad.mit.edu	37	1	158913599	158913599	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr1:158913599C>T	ENST00000368140.1	+	6	1267	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	PYHIN1_ENST00000392254.2_Missense_Mutation_p.T341M|PYHIN1_ENST00000392252.3_Missense_Mutation_p.T332M|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T332M|PYHIN1_ENST00000485134.1_3'UTR	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	341	HIN-200.				cell cycle	nuclear speck		p.T341M(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AATAGGAAGACGACAATCTAT	0.353													8	28	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	186063456	186063456	+	Silent	SNP	C	C	A			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr1:186063456C>A	ENST00000271588.4	+	67	10474	c.10245C>A	c.(10243-10245)gcC>gcA	p.A3415A	HMCN1_ENST00000367492.2_Silent_p.A3415A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3415	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTGTGTGGCCTCCAACAGAG	0.413													8	29	---	---	---	---	0	0
DGUOK	1716	broad.mit.edu	37	2	74154094	74154094	+	Silent	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:74154094C>T	ENST00000264093.4	+	1	142	c.57C>T	c.(55-57)gcC>gcT	p.A19A	DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000356837.6_Silent_p.A19A|DGUOK_ENST00000348222.1_Silent_p.A19A	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	19					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						GTTCCATGGCCAAGAGCCCAC	0.637													3	42	---	---	---	---	0	0
NCKAP5	344148	broad.mit.edu	37	2	133538654	133538654	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:133538654C>A	ENST00000409261.1	-	15	5393	c.5020G>T	c.(5020-5022)Gcc>Tcc	p.A1674S	NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1674S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1674							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCATATCGGCTTTGATTTTC	0.463													4	16	---	---	---	---	0	0
NCKAP5	344148	broad.mit.edu	37	2	133538754	133538754	+	Silent	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:133538754A>G	ENST00000409261.1	-	15	5293	c.4920T>C	c.(4918-4920)gcT>gcC	p.A1640A	NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.A1640A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1640							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCTGCAGGAAGCATTACTTG	0.433													8	35	---	---	---	---	0	0
2-Sep	4735	broad.mit.edu	37	2	242289493	242289493	+	Silent	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr2:242289493C>T	ENST00000391973.2	+	12	1518	c.990C>T	c.(988-990)cgC>cgT	p.R330R	SEPT2_ENST00000360051.3_Silent_p.R330R|SEPT2_ENST00000401990.1_Silent_p.R340R|SEPT2_ENST00000402092.2_Silent_p.R330R|SEPT2_ENST00000391971.2_Silent_p.R330R|SEPT2_ENST00000407971.1_Silent_p.R290R	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	330					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CACAGCTCCGCCGCATGCAAG	0.502													3	14	---	---	---	---	0	0
KCNH8	131096	broad.mit.edu	37	3	19498330	19498330	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr3:19498330G>T	ENST00000328405.2	+	11	2162	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	632						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGATGTAAAGGCTTTAACCT	0.393													24	41	---	---	---	---	0	0
PNRC1	10957	broad.mit.edu	37	6	89793533	89793533	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr6:89793533A>G	ENST00000336032.3	+	2	719	c.602A>G	c.(601-603)cAt>cGt	p.H201R	PNRC1_ENST00000369472.1_Missense_Mutation_p.H16R|PNRC1_ENST00000354922.3_Missense_Mutation_p.H16R	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CAGCTTGTTCATGGTATACAC	0.358										Multiple Myeloma(7;0.094)			20	45	---	---	---	---	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963984	88963984	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr7:88963984A>C	ENST00000333190.4	+	4	2297	c.1688A>C	c.(1687-1689)aAg>aCg	p.K563T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	563						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGCCAAATAAGAGTGAATAT	0.348										HNSCC(36;0.09)			14	43	---	---	---	---	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519341	113519341	+	Silent	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr7:113519341A>G	ENST00000284601.3	-	4	1874	c.1806T>C	c.(1804-1806)caT>caC	p.H602H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	602					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CACTAGTCAAATGATGATGCT	0.433													6	104	---	---	---	---	0	0
RP1L1	94137	broad.mit.edu	37	8	10468857	10468857	+	Silent	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr8:10468857C>T	ENST00000382483.3	-	4	2974	c.2751G>A	c.(2749-2751)gcG>gcA	p.A917A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	917					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCGAGACCCCGCACCCTGGC	0.706													3	17	---	---	---	---	0	0
CA2	760	broad.mit.edu	37	8	86386565	86386565	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr8:86386565C>T	ENST00000285379.5	+	4	594	c.364C>T	c.(364-366)Cac>Tac	p.H122Y		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	122					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCACTTGGTTCACTGGAACAC	0.408													25	56	---	---	---	---	0	0
MCM10	55388	broad.mit.edu	37	10	13240783	13240783	+	Silent	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr10:13240783A>G	ENST00000378694.1	+	15	2289	c.2214A>G	c.(2212-2214)tcA>tcG	p.S738S	MCM10_ENST00000484800.2_Silent_p.S739S|MCM10_ENST00000378714.3_Silent_p.S738S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	739					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGCAAAATCAAAACACACAG	0.453													12	28	---	---	---	---	0	0
CUBN	8029	broad.mit.edu	37	10	16946102	16946102	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr10:16946102C>T	ENST00000377833.4	-	51	7990	c.7925G>A	c.(7924-7926)gGg>gAg	p.G2642E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2642	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATCAGGGGCCCATCAGCATC	0.373													16	39	---	---	---	---	0	0
MMRN2	79812	broad.mit.edu	37	10	88702686	88702686	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr10:88702686G>C	ENST00000372027.5	-	6	2176	c.1855C>G	c.(1855-1857)Ctg>Gtg	p.L619V		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2							extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						ATCTCCTCCAGCACCTCCTCC	0.731													3	12	---	---	---	---	0	0
ACCS	84680	broad.mit.edu	37	11	44092838	44092838	+	Silent	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr11:44092838A>G	ENST00000263776.8	+	3	755	c.321A>G	c.(319-321)aaA>aaG	p.K107K	ACCS_ENST00000432284.2_Silent_p.K107K|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	107							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GTGAGAACAAACTCTGCTTTG	0.582													4	81	---	---	---	---	0	0
ZBTB44	29068	broad.mit.edu	37	11	130109742	130109742	+	Silent	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr11:130109742C>T	ENST00000525842.1	-	3	1435	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	ZBTB44_ENST00000357899.4_Silent_p.T356T|ZBTB44_ENST00000530205.1_Silent_p.T356T|ZBTB44_ENST00000397753.1_Silent_p.T356T	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TAGTGCTAGACGTGCTTTGAA	0.438													3	15	---	---	---	---	0	0
KRT78	196374	broad.mit.edu	37	12	53242526	53242526	+	Silent	SNP	C	C	A			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr12:53242526C>A	ENST00000304620.4	-	1	252	c.189G>T	c.(187-189)ggG>ggT	p.G63G		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	63	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAAACCGCACCCCCAGCCTAC	0.642													6	11	---	---	---	---	0	0
RIMBP2	23504	broad.mit.edu	37	12	130897244	130897244	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr12:130897244A>G	ENST00000261655.4	-	15	2904	c.2741T>C	c.(2740-2742)aTa>aCa	p.I914T		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	914	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATCTGCTTGTATCTCAGAGAC	0.478													4	45	---	---	---	---	0	0
NALCN	259232	broad.mit.edu	37	13	101944385	101944385	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr13:101944385T>A	ENST00000251127.6	-	9	1084	c.1003A>T	c.(1003-1005)Atg>Ttg	p.M335L	NALCN_ENST00000376196.3_Missense_Mutation_p.M335L|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	335						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATCCCCACATTTGTTGAAAC	0.418													9	34	---	---	---	---	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20781932	20781932	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr14:20781932T>C	ENST00000398169.3	-	6	942	c.326A>G	c.(325-327)tAc>tGc	p.Y109C	CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.Y109C			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	109						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GCTGAAATTGTATTCTTGATA	0.353			T	HMGA2	leiomyoma								13	38	---	---	---	---	0	0
SNRPA1	6627	broad.mit.edu	37	15	101832175	101832175	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr15:101832175C>T	ENST00000254193.6	-	3	373	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	101						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCAGTTCCACGAGACTATTA	0.388													48	128	---	---	---	---	0	0
NPIPA1	9284	broad.mit.edu	37	16	15045869	15045869	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr16:15045869T>C	ENST00000328085.6	+	8	1040	c.1040T>C	c.(1039-1041)aTc>aCc	p.I347T	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2			nuclear pore complex interacting protein family, member A1																		CGGATGATAATCTCAAGAAAC	0.413													7	66	---	---	---	---	0	0
PIH1D1	55011	broad.mit.edu	37	19	49949879	49949879	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr19:49949879G>A	ENST00000262265.5	-	8	995	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	PIH1D1_ENST00000602226.1_5'UTR|PIH1D1_ENST00000596049.1_Missense_Mutation_p.H254Y	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	254					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCGTCTAGATGATACAGCTGC	0.622													33	75	---	---	---	---	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55340907	55340907	+	Silent	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr19:55340907C>T	ENST00000391728.4	+	7	1125	c.1092C>T	c.(1090-1092)tgC>tgT	p.C364C	KIR3DL1_ENST00000358178.4_Silent_p.C269C|KIR3DL1_ENST00000326542.7_Silent_p.C347C|KIR3DL1_ENST00000541392.1_Silent_p.C347C|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Silent_p.C364C	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		atctcTGGTGCTCCAACAAAA	0.532													6	47	---	---	---	---	0	0
PLCB4	5332	broad.mit.edu	37	20	9365016	9365016	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr20:9365016C>A	ENST00000378501.2	+	11	1037	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	PLCB4_ENST00000334005.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.S341Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.S341Y|PLCB4_ENST00000378473.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.S341Y	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	341	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCGGGAAGTCTTCGGTAGAA	0.443													7	52	---	---	---	---	0	0
KIF16B	55614	broad.mit.edu	37	20	16485058	16485058	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr20:16485058C>T	ENST00000354981.2	-	10	1292	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	KIF16B_ENST00000408042.1_Missense_Mutation_p.E379K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E379K|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	379					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGGCTATTTCAGCTCGCAGC	0.408													56	108	---	---	---	---	0	0
KIF16B	55614	broad.mit.edu	37	20	16485059	16485059	+	Silent	SNP	A	A	G			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr20:16485059A>G	ENST00000354981.2	-	10	1291	c.1134T>C	c.(1132-1134)gcT>gcC	p.A378A	KIF16B_ENST00000408042.1_Silent_p.A378A|KIF16B_ENST00000355755.3_Silent_p.A378A|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	378					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGGCTATTTCAGCTCGCAGCT	0.413													56	107	---	---	---	---	0	0
DIP2A	23181	broad.mit.edu	37	21	47961679	47961679	+	Silent	SNP	C	C	T			TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr21:47961679C>T	ENST00000318711.7	+	18	2233	c.2050C>T	c.(2050-2052)Ctg>Ttg	p.L684L	DIP2A_ENST00000417564.2_Silent_p.L683L|DIP2A_ENST00000466639.1_Silent_p.L640L|DIP2A_ENST00000427143.2_Silent_p.L619L|DIP2A_ENST00000400274.1_Silent_p.L679L|DIP2A_ENST00000457905.3_Silent_p.L683L|DIP2A_ENST00000435722.3_Silent_p.L683L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	683					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCCACCTGATCTGGGAGGACC	0.488													4	34	---	---	---	---	0	0
NES	10763	broad.mit.edu	37	1	156642067	156642067	+	Missense_Mutation	SNP	G	G	T	rs148672848		TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr1:156642067G>T	ENST00000368223.3	-	4	2045	c.1913C>A	c.(1912-1914)tCt>tAt	p.S638Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	638	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTTCAAGAGATTTCATTAG	0.393													4	75	---	---	---	---	0	0
DNER	92737	broad.mit.edu	37	2	230272041	230272041	+	Missense_Mutation	SNP	T	T	G			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr2:230272041T>G	ENST00000341772.4	-	10	1764	c.1630A>C	c.(1630-1632)Aag>Cag	p.K544Q		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	544	EGF-like 9.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGGGATCCTTGTACAATTCA	0.542													4	69	---	---	---	---	0	0
CCNL1	57018	broad.mit.edu	37	3	156866322	156866322	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr3:156866322G>A	ENST00000295926.3	-	11	1407	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	430	RS.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GTGACTGCGGGACCTGCTTCT	0.408													4	111	---	---	---	---	0	0
MASP1	5648	broad.mit.edu	37	3	186954037	186954037	+	Missense_Mutation	SNP	A	A	G			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr3:186954037A>G	ENST00000296280.6	-	11	1847	c.1622T>C	c.(1621-1623)cTc>cCc	p.L541P	MASP1_ENST00000392472.2_Missense_Mutation_p.L428P|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	540	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTCTGGGTGGAGCACCACTCG	0.572													3	41	---	---	---	---	0	0
DNAH5	1767	broad.mit.edu	37	5	13700934	13700934	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr5:13700934A>C	ENST00000265104.4	-	78	13642	c.13538T>G	c.(13537-13539)cTt>cGt	p.L4513R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4513					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCATTGCAAAGCACCATATT	0.473									Kartagener syndrome				20	136	---	---	---	---	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86333756	86333756	+	Silent	SNP	C	C	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr6:86333756C>A	ENST00000355238.6	-	7	947	c.741G>T	c.(739-741)gtG>gtT	p.V247V	SYNCRIP_ENST00000369622.3_Silent_p.V247V	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	247	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GAATAGAGCCCACAAAAAGCC	0.358													5	70	---	---	---	---	0	0
NPC1L1	29881	broad.mit.edu	37	7	44553094	44553094	+	Silent	SNP	A	A	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr7:44553094A>C	ENST00000289547.4	-	20	4087	c.4032T>G	c.(4030-4032)ggT>ggG	p.G1344G	NPC1L1_ENST00000546276.1_Silent_p.G1271G|NPC1L1_ENST00000381160.3_Silent_p.G1317G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1344					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGGCACCAGCACCTTTGATAG	0.537													16	70	---	---	---	---	0	0
PCLO	27445	broad.mit.edu	37	7	82430883	82430883	+	Silent	SNP	T	T	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr7:82430883T>C	ENST00000333891.9	-	22	15295	c.14958A>G	c.(14956-14958)caA>caG	p.Q4986Q		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTACAGGCTCTTGTCCATTCT	0.353													4	70	---	---	---	---	0	0
RP1	6101	broad.mit.edu	37	8	55533943	55533943	+	Silent	SNP	C	C	G			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr8:55533943C>G	ENST00000220676.1	+	2	565	c.417C>G	c.(415-417)ccC>ccG	p.P139P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	139					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTCACCGCCCCACCCCGTAG	0.697													5	58	---	---	---	---	0	0
DNAJB5	25822	broad.mit.edu	37	9	34993218	34993218	+	Silent	SNP	T	T	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr9:34993218T>C	ENST00000454002.2	+	2	585	c.204T>C	c.(202-204)ggT>ggC	p.G68G	DNAJB5_ENST00000335998.3_Silent_p.G30G|DNAJB5_ENST00000312316.5_5'UTR|DNAJB5_ENST00000545841.1_5'UTR|DNAJB5_ENST00000453597.3_Silent_p.G110G|DNAJB5_ENST00000541010.1_5'UTR	NM_001135005.2	NP_001128477.1	O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	0	J.				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAGTGCTGGTCCAGTGGCTG	0.502													6	31	---	---	---	---	0	0
VAV2	7410	broad.mit.edu	37	9	136642579	136642579	+	Missense_Mutation	SNP	G	G	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr9:136642579G>C	ENST00000371851.1	-	21	2192	c.1867C>G	c.(1867-1869)Ctg>Gtg	p.L623V	VAV2_ENST00000406606.3_Missense_Mutation_p.L623V|VAV2_ENST00000371850.3_Missense_Mutation_p.L633V			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	633	SH3 1.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTTTGTACCAGACGACCCTGG	0.572													15	88	---	---	---	---	0	0
OR6C76	390326	broad.mit.edu	37	12	55820588	55820588	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr12:55820588T>C	ENST00000328314.3	+	1	551	c.551T>C	c.(550-552)aTc>aCc	p.I184T		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTGCTGCAAATCTCTTGCACA	0.403													6	70	---	---	---	---	0	0
RSL1D1	26156	broad.mit.edu	37	16	11941663	11941663	+	Splice_Site	SNP	C	C	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr16:11941663C>A	ENST00000571133.1	-	3	318	c.246G>T	c.(244-246)ttG>ttT	p.L82F	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	82					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GAGGCAAGGTCCTACAAAATA	0.333													6	57	---	---	---	---	0	0
EFCAB13	124989	broad.mit.edu	37	17	45455257	45455257	+	Missense_Mutation	SNP	A	A	G			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr17:45455257A>G	ENST00000331493.2	+	13	1909	c.1498A>G	c.(1498-1500)Act>Gct	p.T500A	EFCAB13_ENST00000517484.1_Missense_Mutation_p.T404A	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TGTGACAGACACTAGTAGAAA	0.323													3	55	---	---	---	---	0	0
STX16	8675	broad.mit.edu	37	20	57251292	57251292	+	Nonsense_Mutation	SNP	T	T	A			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr20:57251292T>A	ENST00000371141.4	+	9	1647	c.923T>A	c.(922-924)tTa>tAa	p.L308*	STX16_ENST00000371132.4_Nonsense_Mutation_p.L287*|STX16_ENST00000359617.4_Nonsense_Mutation_p.L255*|STX16_ENST00000361770.5_Nonsense_Mutation_p.L291*|STX16_ENST00000358029.4_Nonsense_Mutation_p.L304*|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000361830.3_Nonsense_Mutation_p.L308*|STX16_ENST00000355957.5_Nonsense_Mutation_p.L291*	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	308					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			ATTTTAATATTATTTGTCATC	0.443													4	181	---	---	---	---	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924087	105924087	+	Silent	SNP	C	C	A			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr2:105924087C>A	ENST00000393359.2	-	2	1098	c.672G>T	c.(670-672)gcG>gcT	p.A224A	TGFBRAP1_ENST00000258449.1_Silent_p.A224A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	224	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCCGGGGCCCGCCAGCAGGA	0.592													4	212	---	---	---	---	0	0
GPR17	0	broad.mit.edu	37	2	128408704	128408704	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr2:128408704C>T	ENST00000544369.1	+	4	1090	c.479C>T	c.(478-480)gCc>gTc	p.A160V	LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.A160V|GPR17_ENST00000393018.3_Missense_Mutation_p.A160V|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000324938.5_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	160						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CGTTTCCTGGCCATTGTGCAC	0.617													5	160	---	---	---	---	0	0
MAP4	4134	broad.mit.edu	37	3	47951176	47951176	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr3:47951176C>T	ENST00000426837.2	-	10	4873	c.4786G>A	c.(4786-4788)Gtg>Atg	p.V1596M	MAP4_ENST00000360240.6_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.V186M|MAP4_ENST00000383737.4_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	969					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCTACTGGCACTCCAGGAAGG	0.493													4	112	---	---	---	---	0	0
SLC9C1	285335	broad.mit.edu	37	3	111918172	111918172	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr3:111918172T>C	ENST00000305815.5	-	20	2771	c.2519A>G	c.(2518-2520)aAt>aGt	p.N840S	SLC9C1_ENST00000487372.1_Missense_Mutation_p.N792S	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	840					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CCTTACCTTATTAATTCCAGC	0.308													11	127	---	---	---	---	0	0
WASF1	8936	broad.mit.edu	37	6	110422901	110422901	+	Missense_Mutation	SNP	G	G	A	rs150788183	by1000genomes	TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr6:110422901G>A	ENST00000392589.1	-	10	2248	c.1412C>T	c.(1411-1413)cCt>cTt	p.P471L	WASF1_ENST00000359451.2_Missense_Mutation_p.P471L|WASF1_ENST00000392586.1_Missense_Mutation_p.P471L|WASF1_ENST00000392587.2_Missense_Mutation_p.P471L|WASF1_ENST00000392588.1_Missense_Mutation_p.P471L	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	471					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		AGGAGATGGAGGCATTAATGG	0.517													8	160	---	---	---	---	0	0
ASB15	142685	broad.mit.edu	37	7	123269330	123269330	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr7:123269330G>A	ENST00000451558.1	+	12	1803	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	ASB15_ENST00000451215.1_Missense_Mutation_p.D428N|ASB15_ENST00000434204.1_Missense_Mutation_p.D428N|ASB15_ENST00000275699.3_Missense_Mutation_p.D428N|ASB15_ENST00000540573.1_Missense_Mutation_p.D428N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	428					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGCTCTAAACGACGAGGTAAT	0.418													4	280	---	---	---	---	0	0
MORN4	118812	broad.mit.edu	37	10	99376044	99376044	+	Silent	SNP	C	C	T			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr10:99376044C>T	ENST00000335628.3	-	4	590	c.591G>A	c.(589-591)aaG>aaA	p.K197K	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000307450.6_Silent_p.K139K|MORN4_ENST00000478953.1_3'UTR			Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	139										large_intestine(1)|lung(1)|stomach(2)	4						TTCTGGCTGACTTGGAGGCGC	0.527													7	54	---	---	---	---	0	0
FEN1	2237	broad.mit.edu	37	11	61563274	61563274	+	Silent	SNP	C	C	T			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr11:61563274C>T	ENST00000305885.2	+	2	854	c.441C>T	c.(439-441)ctC>ctT	p.L147L	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	147	I-domain.				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TGCTGAGCCTCATGGGCATCC	0.567								Editing and processing nucleases					8	101	---	---	---	---	0	0
FEN1	2237	broad.mit.edu	37	11	61563280	61563280	+	Silent	SNP	C	C	A			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr11:61563280C>A	ENST00000305885.2	+	2	860	c.447C>A	c.(445-447)ggC>ggA	p.G149G	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	149	I-domain.				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GCCTCATGGGCATCCCTTATC	0.567								Editing and processing nucleases					9	95	---	---	---	---	0	0
OR5AU1	390445	broad.mit.edu	37	14	21624014	21624014	+	Silent	SNP	C	C	G			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr14:21624014C>G	ENST00000304418.3	-	1	208	c.171G>C	c.(169-171)ctG>ctC	p.L57L		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TCCCTTGGCTCAGGTTTGCCC	0.552													4	99	---	---	---	---	0	0
AURKB	9212	broad.mit.edu	37	17	8110638	8110638	+	Missense_Mutation	SNP	T	T	G			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr17:8110638T>G	ENST00000316199.6	-	5	334	c.257A>C	c.(256-258)aAa>aCa	p.K86T	AURKB_ENST00000534871.1_Missense_Mutation_p.K44T|AURKB_ENST00000578549.1_Missense_Mutation_p.K85T|AURKB_ENST00000585124.1_Missense_Mutation_p.K85T|AURKB_ENST00000535053.1_Missense_Mutation_p.K86T	NM_001284526.1	NP_001271455.1	Q96GD4	AURKB_HUMAN	aurora kinase B	85	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						AAACTTGCCTTTGCCCAGAGG	0.502													5	50	---	---	---	---	0	0
MEOX1	4222	broad.mit.edu	37	17	41720986	41720986	+	Missense_Mutation	SNP	G	G	C			TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr17:41720986G>C	ENST00000318579.4	-	2	931	c.512C>G	c.(511-513)gCc>gGc	p.A171G	MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000393661.2_Missense_Mutation_p.A56G|MEOX1_ENST00000329168.3_Intron	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	171						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CTCCTTGCGGGCTTTGCTGCT	0.577													4	24	---	---	---	---	0	0
LCE2D	353141	broad.mit.edu	37	1	152636831	152636831	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr1:152636831C>T	ENST00000368784.1	+	2	305	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	84	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCCACCGGCGCCGGCACCA	0.682													8	86	---	---	---	---	0	0
NFASC	23114	broad.mit.edu	37	1	204985658	204985658	+	Silent	SNP	T	T	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr1:204985658T>C	ENST00000367172.4	+	32	4363	c.4035T>C	c.(4033-4035)tcT>tcC	p.S1345S	NFASC_ENST00000513543.1_Silent_p.S1167S|NFASC_ENST00000367169.4_Silent_p.S1069S|NFASC_ENST00000360049.4_Silent_p.S1167S|NFASC_ENST00000539706.1_Silent_p.S1172S|NFASC_ENST00000404076.1_Silent_p.S1155S|NFASC_ENST00000338586.6_Silent_p.S1222S|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404907.1_Silent_p.S1172S|NFASC_ENST00000367171.4_Silent_p.S1330S|NFASC_ENST00000367170.4_Silent_p.S1266S|NFASC_ENST00000401399.1_Silent_p.S1238S|NFASC_ENST00000338515.6_Silent_p.S1255S|NFASC_ENST00000339876.6_Silent_p.S1238S			O94856	NFASC_HUMAN	neurofascin	1345					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTATCTACTCTCTGGCCTAAC	0.567													8	29	---	---	---	---	0	0
LY75	4065	broad.mit.edu	37	2	160737746	160737746	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr2:160737746T>C	ENST00000263636.4	-	8	1279	c.1252A>G	c.(1252-1254)Aaa>Gaa	p.K418E	LY75_ENST00000554112.1_Missense_Mutation_p.K418E|LY75_ENST00000553424.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K418E	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACTTCTTCTTTGATATCTAAA	0.284													6	79	---	---	---	---	0	0
ITGAV	3685	broad.mit.edu	37	2	187495563	187495563	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr2:187495563G>A	ENST00000261023.3	+	5	837	c.563G>A	c.(562-564)gGa>gAa	p.G188E	ITGAV_ENST00000374907.3_Intron|ITGAV_ENST00000433736.2_Missense_Mutation_p.G142E	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	188					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TGTCAAGGAGGATTCAGCATT	0.303													16	169	---	---	---	---	0	0
HEMK1	51409	broad.mit.edu	37	3	50615277	50615277	+	Missense_Mutation	SNP	T	T	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr3:50615277T>G	ENST00000232854.4	+	7	1187	c.635T>G	c.(634-636)aTt>aGt	p.I212S	HEMK1_ENST00000434410.1_Missense_Mutation_p.I212S|HEMK1_ENST00000455834.1_Missense_Mutation_p.I212S	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	212					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CAGGACAGGATTTGGATCATC	0.557													5	103	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126241810	126241810	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr4:126241810A>C	ENST00000394329.3	+	1	4257	c.4244A>C	c.(4243-4245)gAc>gCc	p.D1415A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1415	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACTTTAATGACAATCCTCCT	0.398													4	188	---	---	---	---	0	0
ADAM29	11086	broad.mit.edu	37	4	175896818	175896818	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr4:175896818C>A	ENST00000359240.3	+	5	812	c.142C>A	c.(142-144)Cct>Act	p.P48T	ADAM29_ENST00000445694.1_Missense_Mutation_p.P48T|ADAM29_ENST00000404450.4_Missense_Mutation_p.P48T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P48T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	48					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGGCATGACACCTCCAGGCTG	0.512													3	42	---	---	---	---	0	0
HEXB	3074	broad.mit.edu	37	5	74014787	74014787	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr5:74014787G>A	ENST00000511181.1	+	11	1645	c.733G>A	c.(733-735)Gat>Aat	p.D245N	HEXB_ENST00000261416.7_Missense_Mutation_p.D470N|HEXB_ENST00000513539.1_3'UTR			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	470					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		GGAACCTCTTGATTTTGGCGG	0.413													7	95	---	---	---	---	0	0
FBXW11	23291	broad.mit.edu	37	5	171299876	171299876	+	Splice_Site	SNP	C	C	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr5:171299876C>A	ENST00000296933.6	-	9	1608	c.1238G>T	c.(1237-1239)aGg>aTg	p.R413M	FBXW11_ENST00000425623.2_Splice_Site_p.R394M|FBXW11_ENST00000265094.5_Splice_Site_p.R426M|FBXW11_ENST00000393802.2_Splice_Site_p.R392M	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	426					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCTACCCACCTAATGGTATT	0.463													4	30	---	---	---	---	0	0
AZGP1P1	0	broad.mit.edu	37	7	99578417	99578417	+	RNA	SNP	C	C	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr7:99578417C>G	ENST00000425474.1	+	0	33					NR_036679.1																						GGTGTCTGTCCTGCTGTCTCT	0.582													14	155	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	rs71286275		TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr7:100682744C>T	ENST00000306151.4	+	3	8111	c.8047C>T	c.(8047-8049)Cca>Tca	p.P2683S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2683	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2683S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGCAGCATGCCAACCTCAAC	0.493													6	351	---	---	---	---	0	0
TRBV29-1	0	broad.mit.edu	37	7	142448468	142448468	+	RNA	SNP	A	A	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr7:142448468A>C	ENST00000422143.2	+	0	129																											GTCATCTCTCAAAAGCCAAGC	0.517													13	91	---	---	---	---	0	0
PROSC	11212	broad.mit.edu	37	8	37632949	37632949	+	Missense_Mutation	SNP	A	A	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr8:37632949A>G	ENST00000328195.3	+	6	614	c.547A>G	c.(547-549)Ata>Gta	p.I183V		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	183							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	GCTGATGACCATAGGAAGCTT	0.517													13	183	---	---	---	---	0	0
EFCAB1	79645	broad.mit.edu	37	8	49641689	49641689	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr8:49641689C>G	ENST00000433756.1	-	4	491	c.332G>C	c.(331-333)gGg>gCg	p.G111A	EFCAB1_ENST00000262103.3_Missense_Mutation_p.G163A|EFCAB1_ENST00000523092.1_Missense_Mutation_p.G111A|EFCAB1_ENST00000521002.1_Intron	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	163	EF-hand 2.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGACAGCTTCCCATCATGGTC	0.408													3	50	---	---	---	---	0	0
KIAA2026	158358	broad.mit.edu	37	9	5919991	5919991	+	Nonsense_Mutation	SNP	G	G	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:5919991G>C	ENST00000399933.3	-	8	6004	c.6005C>G	c.(6004-6006)tCa>tGa	p.S2002*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.S1972*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	2002										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGAAGTCAGTGATACTGTTGG	0.433													7	103	---	---	---	---	0	0
ASTN2	23245	broad.mit.edu	37	9	119202943	119202943	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:119202943G>T	ENST00000313400.4	-	22	3827	c.3727C>A	c.(3727-3729)Cac>Aac	p.H1243N	ASTN2_ENST00000288520.5_Missense_Mutation_p.H344N|ASTN2_ENST00000341734.4_Missense_Mutation_p.H295N|ASTN2_ENST00000361209.2_Missense_Mutation_p.H1192N|ASTN2_ENST00000361477.3_Missense_Mutation_p.H295N|ASTN2_ENST00000373996.3_Missense_Mutation_p.H1239N			O75129	ASTN2_HUMAN	astrotactin 2	1243						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTTCATAGTGAGAGTTGTAG	0.512													7	58	---	---	---	---	0	0
CRAT	1384	broad.mit.edu	37	9	131860406	131860406	+	Silent	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:131860406G>A	ENST00000318080.2	-	11	1644	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	450					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTTCATAGGTGGCACATGCCT	0.627													7	139	---	---	---	---	0	0
DDX6	1656	broad.mit.edu	37	11	118636057	118636057	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr11:118636057A>C	ENST00000264018.4	-	6	811	c.506T>G	c.(505-507)gTg>gGg	p.V169G	DDX6_ENST00000534980.1_Missense_Mutation_p.V169G|DDX6_ENST00000526070.2_Missense_Mutation_p.V169G	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	169	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGGAACAATCACCATTGCTGA	0.408			T	IGH@	B-NHL								27	142	---	---	---	---	0	0
FREM2	341640	broad.mit.edu	37	13	39265100	39265100	+	Missense_Mutation	SNP	G	G	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr13:39265100G>C	ENST00000280481.7	+	1	3835	c.3619G>C	c.(3619-3621)Gta>Cta	p.V1207L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1207					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATGAGTCTGGTAATTGATAC	0.418													46	293	---	---	---	---	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560879	32560879	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr14:32560879G>A	ENST00000345122.3	+	2	1319	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R335K|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R335K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R335K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	335					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGAAAAAGGAGAGAAGAGTAT	0.313													11	88	---	---	---	---	0	0
SPTB	6710	broad.mit.edu	37	14	65270402	65270402	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr14:65270402T>A	ENST00000389722.3	-	3	450	c.397A>T	c.(397-399)Atg>Ttg	p.M133L	SPTB_ENST00000542895.1_Missense_Mutation_p.M133L|SPTB_ENST00000389720.3_Missense_Mutation_p.M133L|SPTB_ENST00000389721.5_Missense_Mutation_p.M133L|SPTB_ENST00000556626.1_Missense_Mutation_p.M133L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	133	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGAGCCCATGTTCTCCAGG	0.597													4	42	---	---	---	---	0	0
SNHG14	0	broad.mit.edu	37	15	25321077	25321077	+	RNA	SNP	G	G	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:25321077G>C	ENST00000549804.2	+	0	1109				SNORD116-11_ENST00000383882.1_RNA																							ACTGTGCATGGATCAATGATG	0.448													6	50	---	---	---	---	0	0
AQR	9716	broad.mit.edu	37	15	35207358	35207358	+	Silent	SNP	C	C	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:35207358C>T	ENST00000156471.5	-	16	1590	c.1365G>A	c.(1363-1365)ttG>ttA	p.L455L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	455						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACTGCAAATTCAATTTGGGAA	0.363													3	41	---	---	---	---	0	0
SNX22	79856	broad.mit.edu	37	15	64445496	64445496	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:64445496G>T	ENST00000325881.4	+	4	376	c.317G>T	c.(316-318)aGa>aTa	p.R106I		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	106	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			large_intestine(3)|lung(1)|urinary_tract(2)	6						GAATTCCTGAGACTTCGGCAC	0.597													3	40	---	---	---	---	0	0
DNM1P47	0	broad.mit.edu	37	15	102291938	102291938	+	RNA	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:102291938G>A	ENST00000561463.1	+	0	704																											TGCATGCACCGCCTCATGGGG	0.587													5	29	---	---	---	---	0	0
CD68	968	broad.mit.edu	37	17	7484694	7484694	+	Splice_Site	SNP	A	A	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:7484694A>T	ENST00000250092.6	+	6	1142		c.e6-1		CD68_ENST00000380498.6_Splice_Site	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule							endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						TCCTTCCGCCAGGTTTCTCCT	0.567													4	160	---	---	---	---	0	0
MYH4	4622	broad.mit.edu	37	17	10355471	10355471	+	Silent	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:10355471G>A	ENST00000255381.2	-	27	3635	c.3525C>T	c.(3523-3525)ttC>ttT	p.F1175F	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1175					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCATTTTCTGGAACTCAGCCT	0.597													5	161	---	---	---	---	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964623	32964623	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:32964623C>A	ENST00000321639.5	+	10	2655	c.2327C>A	c.(2326-2328)cCc>cAc	p.P776H		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	776						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCGTGCCACCCACAGAAGAC	0.736													4	27	---	---	---	---	0	0
FBN3	84467	broad.mit.edu	37	19	8130923	8130923	+	Silent	SNP	A	A	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:8130923A>C	ENST00000600128.1	-	64	8724	c.8310T>G	c.(8308-8310)ccT>ccG	p.P2770P	FBN3_ENST00000601739.1_Silent_p.P2770P|FBN3_ENST00000270509.2_Silent_p.P2770P			Q75N90	FBN3_HUMAN	fibrillin 3	2770						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTAGGTTCCAGGCCCCGGCC	0.677													14	51	---	---	---	---	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747165	10747165	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:10747165C>T	ENST00000586078.1	+	15	1509	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	SLC44A2_ENST00000335757.5_Missense_Mutation_p.T467M|SLC44A2_ENST00000407327.4_Missense_Mutation_p.T465M	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	467					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GGCCAGGTCACGCTGGCCGGG	0.667													9	82	---	---	---	---	0	0
ZNF112	7665	broad.mit.edu	37	19	44832431	44832431	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:44832431C>G	ENST00000354340.4	-	4	1930	c.1879G>C	c.(1879-1881)Gga>Cga	p.G627R	ZNF112_ENST00000337401.4_Missense_Mutation_p.G633R|ZNF112_ENST00000536500.1_Missense_Mutation_p.G650R	NM_013380.3	NP_037512.3			zinc finger protein 112																		GGTTTTTCTCCAGTGTGGACT	0.453													11	232	---	---	---	---	0	0
ZNF417	147687	broad.mit.edu	37	19	58420529	58420529	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:58420529C>A	ENST00000312026.5	-	3	1281	c.1117G>T	c.(1117-1119)Gtt>Ttt	p.V373F	ZNF417_ENST00000536263.1_Missense_Mutation_p.V174F|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.V372F	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CCAGTGTGAACACGCTGATGG	0.448													10	192	---	---	---	---	0	0
MYH9	4627	broad.mit.edu	37	22	36708179	36708179	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr22:36708179T>A	ENST00000216181.5	-	14	1873	c.1643A>T	c.(1642-1644)cAg>cTg	p.Q548L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	548	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCCCTGCTCCTGCATCACCTT	0.607			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				8	64	---	---	---	---	0	0
TLR8	51311	broad.mit.edu	37	X	12938245	12938245	+	Silent	SNP	C	C	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chrX:12938245C>T	ENST00000218032.6	+	2	1173	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	TLR8_ENST00000311912.5_Silent_p.N380N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	362					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTTCCAGAAACTTCTCTAAAC	0.403													11	106	---	---	---	---	0	0
DDX53	168400	broad.mit.edu	37	X	23018291	23018291	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chrX:23018291G>T	ENST00000327968.5	+	1	205	c.117G>T	c.(115-117)caG>caT	p.Q39H	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	39						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TCGGCCATCAGGGACCGAGAG	0.542													4	13	---	---	---	---	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425375	71425375	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chrX:71425375C>G	ENST00000373657.1	-	3	3475	c.2873G>C	c.(2872-2874)aGt>aCt	p.S958T	ERCC6L_ENST00000334463.3_Missense_Mutation_p.S1081T|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1081					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTTACACTACTGGGTATTTG	0.388													9	60	---	---	---	---	0	0
VPS13D	55187	broad.mit.edu	37	1	12333082	12333082	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr1:12333082T>A	ENST00000358136.3	+	18	2256	c.2126T>A	c.(2125-2127)gTg>gAg	p.V709E	VPS13D_ENST00000356315.4_Missense_Mutation_p.V709E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	709					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGATGGACCGTGCGGCTGGAT	0.428													18	66	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179594623	179594623	+	Missense_Mutation	SNP	A	A	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:179594623A>T	ENST00000589042.1	-	63	18581	c.18357T>A	c.(18355-18357)aaT>aaA	p.N6119K	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N5802K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4875K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5802	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGACTGTCCATTCCTCAGCA	0.383													10	9	---	---	---	---	0	0
SATB2	23314	broad.mit.edu	37	2	200233398	200233398	+	Nonsense_Mutation	SNP	A	A	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr2:200233398A>T	ENST00000443023.1	-	5	1918	c.453T>A	c.(451-453)taT>taA	p.Y151*	SATB2_ENST00000417098.1_Nonsense_Mutation_p.Y210*|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Y210*|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Y210*			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	210						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATTGGCATAATATGTGCTAT	0.318													31	41	---	---	---	---	0	0
WDR49	151790	broad.mit.edu	37	3	167249006	167249006	+	Missense_Mutation	SNP	G	G	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr3:167249006G>C	ENST00000308378.3	-	9	1364	c.1059C>G	c.(1057-1059)gaC>gaG	p.D353E	WDR49_ENST00000453925.2_Missense_Mutation_p.D417E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D178E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	353										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGGTAGAATGGTCTGCCATGG	0.438													4	75	---	---	---	---	0	0
PROM1	8842	broad.mit.edu	37	4	16019994	16019994	+	Silent	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr4:16019994G>A	ENST00000505450.1	-	8	1539	c.927C>T	c.(925-927)agC>agT	p.S309S	PROM1_ENST00000510224.1_Silent_p.S318S|PROM1_ENST00000539194.1_Silent_p.S318S|PROM1_ENST00000508167.1_Silent_p.S309S|PROM1_ENST00000540805.1_Silent_p.S318S|PROM1_ENST00000543373.1_Silent_p.S309S|PROM1_ENST00000447510.2_Silent_p.S318S|PROM1_ENST00000502943.1_5'UTR	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	318					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACAATCTGATGCTGTTGCAGG	0.537													17	29	---	---	---	---	0	0
IRF4	3662	broad.mit.edu	37	6	397164	397164	+	Silent	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr6:397164G>A	ENST00000380956.4	+	5	675	c.549G>A	c.(547-549)ccG>ccA	p.P183P	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	183					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		ACTACGTCCCGGATCAGCCAC	0.562			T	IGH@	MM								50	60	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113358324	113358324	+	Splice_Site	SNP	A	A	G			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:113358324A>G	ENST00000297405.5	-	41	6687		c.e41+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAATACACATACCAAAACCTA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	102	---	---	---	---	0	0
TAF2	6873	broad.mit.edu	37	8	120756627	120756627	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr8:120756627T>C	ENST00000378164.2	-	24	3413	c.3115A>G	c.(3115-3117)Agt>Ggt	p.S1039G		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1039					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTTGAGAACTGGAAAACTAA	0.393													5	193	---	---	---	---	0	0
NTNG2	84628	broad.mit.edu	37	9	135102298	135102298	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:135102298G>T	ENST00000393229.3	+	4	1696	c.920G>T	c.(919-921)tGc>tTc	p.C307F	NTNG2_ENST00000372179.3_Missense_Mutation_p.C307F|NTNG2_ENST00000393228.4_Missense_Mutation_p.C307F|NTNG2_ENST00000360670.3_Missense_Mutation_p.C307F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	307	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CAGTGCGAGTGCGAGCACAAC	0.657													5	10	---	---	---	---	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136323143	136323143	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:136323143C>T	ENST00000371929.3	+	28	4448	c.4004C>T	c.(4003-4005)gCa>gTa	p.A1335V	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131V|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1335	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.A1335G(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTCCGCACGCACGGATTGCC	0.622													12	27	---	---	---	---	0	0
JMJD1C	221037	broad.mit.edu	37	10	64958388	64958388	+	Silent	SNP	A	A	G			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr10:64958388A>G	ENST00000399262.2	-	12	5594	c.5376T>C	c.(5374-5376)ttT>ttC	p.F1792F	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Silent_p.F1610F|JMJD1C_ENST00000402544.1_Silent_p.F1573F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1792					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATCATCTTCAAAATTTTCAT	0.323													5	119	---	---	---	---	0	0
C10orf118	55088	broad.mit.edu	37	10	115922869	115922869	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr10:115922869T>A	ENST00000369287.3	-	2	425	c.159A>T	c.(157-159)ttA>ttT	p.L53F	C10orf118_ENST00000369286.1_Missense_Mutation_p.L53F|C10orf118_ENST00000369285.3_Missense_Mutation_p.L53F	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	53										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TAGGTTGACATAAAGTTTTAT	0.363													45	69	---	---	---	---	0	0
LRP4	4038	broad.mit.edu	37	11	46898339	46898339	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:46898339C>T	ENST00000378623.1	-	24	3562	c.3320G>A	c.(3319-3321)cGt>cAt	p.R1107H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1107					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGATTGGCACGACTGATCCT	0.567													8	115	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108175442	108175442	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:108175442T>A	ENST00000278616.4	+	37	5922	c.5537T>A	c.(5536-5538)aTt>aAt	p.I1846N	ATM_ENST00000452508.2_Missense_Mutation_p.I1846N	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1846					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCATACTTGATTCATGATATT	0.338			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			17	24	---	---	---	---	0	0
SLC37A4	2542	broad.mit.edu	37	11	118899962	118899962	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr11:118899962C>T	ENST00000545985.1	-	3	874	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	SLC37A4_ENST00000357590.5_Missense_Mutation_p.E40K|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000330775.7_Missense_Mutation_p.E40K|SLC37A4_ENST00000525102.1_5'UTR	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	40					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGGATCTCTTCCACCAATGAT	0.507													9	15	---	---	---	---	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267477	71267477	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr14:71267477C>T	ENST00000554752.2	-	2	726	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	MAP3K9_ENST00000381250.4_Missense_Mutation_p.V243M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.V243M	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	243	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCCAATTCACCAGGATGTCT	0.493													31	34	---	---	---	---	0	0
ABCA9	10350	broad.mit.edu	37	17	67008130	67008130	+	Missense_Mutation	SNP	A	A	G	rs144122311		TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr17:67008130A>G	ENST00000340001.4	-	23	3345	c.3134T>C	c.(3133-3135)aTt>aCt	p.I1045T	ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1045					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTAGTCACCAATGCTGCTCAT	0.403													3	63	---	---	---	---	0	0
ABHD8	79575	broad.mit.edu	37	19	17405642	17405642	+	Silent	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:17405642G>A	ENST00000247706.3	-	3	1013	c.774C>T	c.(772-774)tgC>tgT	p.C258C	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	258							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CCAGGAATGTGCAGAAAGAGA	0.532													3	21	---	---	---	---	0	0
ZNF285	26974	broad.mit.edu	37	19	44891888	44891888	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:44891888C>A	ENST00000330997.4	-	4	583	c.519G>T	c.(517-519)gaG>gaT	p.E173D	ZNF285_ENST00000591679.1_Missense_Mutation_p.E180D|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.E173D	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGTACAATTTCTCTTCCATGT	0.478													5	132	---	---	---	---	0	0
LIG1	3978	broad.mit.edu	37	19	48636261	48636261	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:48636261T>C	ENST00000263274.7	-	18	2122	c.1703A>G	c.(1702-1704)aAa>aGa	p.K568R	LIG1_ENST00000536218.1_Missense_Mutation_p.K500R|LIG1_ENST00000427526.2_Missense_Mutation_p.K537R	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	568					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCGTCATATTTGTATTCGCA	0.572								Nucleotide excision repair (NER)					7	197	---	---	---	---	0	0
ZNF548	147694	broad.mit.edu	37	19	57908537	57908537	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr19:57908537C>T	ENST00000366197.5	+	2	387	c.137C>T	c.(136-138)tCa>tTa	p.S46L	AC003002.4_ENST00000597658.1_Intron|AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000336128.7_Missense_Mutation_p.S58L|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.S58L|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.S58L	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTTGTCCTCACTAGGTAAG	0.542													129	219	---	---	---	---	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338099	28338099	+	Silent	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr21:28338099C>T	ENST00000284987.5	-	1	733	c.612G>A	c.(610-612)ccG>ccA	p.P204P		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	204					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGCGCGCGGCGGCAGGGCCT	0.716													4	6	---	---	---	---	0	0
EVA1C	59271	broad.mit.edu	37	21	33887452	33887452	+	Silent	SNP	C	C	T			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr21:33887452C>T	ENST00000300255.2	+	8	1751	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Silent_p.N378N|EVA1C_ENST00000382699.3_Silent_p.N423N	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		TATGGATGAACAGTGGTTTGG	0.463													5	89	---	---	---	---	0	0
YY2	404281	broad.mit.edu	37	X	21875524	21875524	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chrX:21875524G>A	ENST00000429584.2	+	1	1420	c.922G>A	c.(922-924)Gag>Aag	p.E308K	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	308	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCACACCGGCGAGAAGCCCTT	0.542													121	19	---	---	---	---	0	0
FAF1	11124	broad.mit.edu	37	1	51049325	51049325	+	Splice_Site	SNP	T	T	C			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr1:51049325T>C	ENST00000396153.2	-	11	1481	c.1030A>G	c.(1030-1032)Aga>Gga	p.R344G	FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Splice_Site_p.R102G|FAF1_ENST00000371778.4_Splice_Site_p.R344G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	344					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TAACCCTACCTTGAAGAAAAC	0.289													10	31	---	---	---	---	0	0
PPM1G	5496	broad.mit.edu	37	2	27608655	27608655	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr2:27608655T>C	ENST00000344034.4	-	4	632	c.368A>G	c.(367-369)gAg>gGg	p.E123G	PPM1G_ENST00000350803.4_Missense_Mutation_p.E123G	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	123					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCTTCATCCTCAGTGGGTCG	0.403													3	48	---	---	---	---	0	0
GUF1	60558	broad.mit.edu	37	4	44682800	44682800	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr4:44682800G>A	ENST00000281543.5	+	3	561	c.367G>A	c.(367-369)Gca>Aca	p.A123T	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	123					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGCACAGACAGCATCTCTCTT	0.323													7	22	---	---	---	---	0	0
CARD6	84674	broad.mit.edu	37	5	40854090	40854090	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr5:40854090A>G	ENST00000254691.5	+	3	2855	c.2656A>G	c.(2656-2658)Ata>Gta	p.I886V	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	886					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGGAAAACTGATAAGAACATC	0.488													32	85	---	---	---	---	0	0
PCDHB18	0	broad.mit.edu	37	5	140616414	140616414	+	RNA	SNP	A	A	G			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr5:140616414A>G	ENST00000526308.1	+	0	2477					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGGGCAAATGAGTTCAAGTTC	0.562													20	94	---	---	---	---	0	0
CUX1	1523	broad.mit.edu	37	7	101916637	101916637	+	Splice_Site	SNP	G	G	T			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr7:101916637G>T	ENST00000437600.4	+	15	1602	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V	CUX1_ENST00000547394.2_Splice_Site_p.G403V|CUX1_ENST00000393824.3_Splice_Site_p.G380V|CUX1_ENST00000292538.4_Splice_Site_p.G419V|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Splice_Site_p.G373V	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	408					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTGGCCACAGGACGCTGTGCA	0.627													3	12	---	---	---	---	0	0
MTUS1	57509	broad.mit.edu	37	8	17612416	17612416	+	Missense_Mutation	SNP	C	C	G			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr8:17612416C>G	ENST00000381869.3	-	2	1374	c.901G>C	c.(901-903)Gtc>Ctc	p.V301L	MTUS1_ENST00000519263.1_Missense_Mutation_p.V301L|MTUS1_ENST00000381862.3_Missense_Mutation_p.V301L|MTUS1_ENST00000262102.6_Missense_Mutation_p.V301L	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	301						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCATTGGGGACTTCCATGCCA	0.433													4	144	---	---	---	---	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019398	131019398	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr9:131019398G>A	ENST00000421699.2	-	26	2969	c.2957C>T	c.(2956-2958)cCt>cTt	p.P986L	GOLGA2_ENST00000609374.1_Missense_Mutation_p.P974L	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	986						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTAAAAAAAAGGAATGCAGGG	0.557													4	170	---	---	---	---	0	0
OR10G4	390264	broad.mit.edu	37	11	123886915	123886915	+	Silent	SNP	C	C	T			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr11:123886915C>T	ENST00000320891.4	+	1	634	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGCTTTGTCCTGATAGTGCT	0.562													24	95	---	---	---	---	0	0
PRB4	5545	broad.mit.edu	37	12	11461248	11461248	+	Silent	SNP	C	C	T			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr12:11461248C>T	ENST00000279575.1	-	3	702	c.669G>A	c.(667-669)aaG>aaA	p.K223K	PRB4_ENST00000445719.2_Silent_p.K154K|PRB4_ENST00000535904.1_Silent_p.K223K	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	286	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCCCCTGGGGCTTTCCAGCAG	0.622										HNSCC(22;0.051)			43	132	---	---	---	---	0	0
PTGR2	145482	broad.mit.edu	37	14	74346776	74346776	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr14:74346776A>G	ENST00000555661.1	+	7	893	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.I180V|PTGR2_ENST00000267568.4_Missense_Mutation_p.I250V|PTGR2_ENST00000555228.1_Missense_Mutation_p.I250V|PTGR2_ENST00000553813.1_Missense_Mutation_p.I116V			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	250					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						GAACAGCCACATCATCCTGTG	0.413													14	33	---	---	---	---	0	0
RYR3	6263	broad.mit.edu	37	15	34015067	34015067	+	Silent	SNP	C	C	T			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr15:34015067C>T	ENST00000389232.4	+	44	6841	c.6771C>T	c.(6769-6771)gaC>gaT	p.D2257D	RYR3_ENST00000415757.3_Silent_p.D2257D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2257	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCGCTCGACCTCCCCTCTC	0.557													38	88	---	---	---	---	0	0
SSH2	85464	broad.mit.edu	37	17	27963447	27963447	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr17:27963447T>C	ENST00000269033.3	-	14	1871	c.1720A>G	c.(1720-1722)Aaa>Gaa	p.K574E	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.K601E	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	574					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTAAGGCTTTGGATGCATGG	0.403													3	52	---	---	---	---	0	0
RFX1	5989	broad.mit.edu	37	19	14083867	14083867	+	Silent	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr19:14083867G>A	ENST00000254325.4	-	9	1236	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	334					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCGTGCCTGCGGCCTCGTAGT	0.667													12	37	---	---	---	---	0	0
NXF3	56000	broad.mit.edu	37	X	102337986	102337986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chrX:102337986G>A	ENST00000395065.3	-	7	738	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	NXF3_ENST00000425463.2_Nonsense_Mutation_p.Q124*|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	213						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ACATCACACTGTTGGTTCATG	0.512													71	71	---	---	---	---	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185962	127185962	+	Missense_Mutation	SNP	T	T	G			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chrX:127185962T>G	ENST00000371124.3	-	1	420	c.224A>C	c.(223-225)gAg>gCg	p.E75A		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	75						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CAGTCCACGCTCAATGGGGTA	0.468													5	121	---	---	---	---	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185963	127185963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chrX:127185963C>A	ENST00000371124.3	-	1	419	c.223G>T	c.(223-225)Gag>Tag	p.E75*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	75						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGTCCACGCTCAATGGGGTAG	0.463													4	115	---	---	---	---	0	0
DISP1	84976	broad.mit.edu	37	1	223116655	223116655	+	Missense_Mutation	SNP	C	C	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:223116655C>A	ENST00000284476.6	+	2	654	c.490C>A	c.(490-492)Cag>Aag	p.Q164K	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.Q164K	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	164					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCCTGTGCAACAGCACATAGC	0.458													10	87	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228491377	228491377	+	Splice_Site	SNP	C	C	G			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:228491377C>G	ENST00000570156.2	+	52	13814	c.13740C>G	c.(13738-13740)gcC>gcG	p.A4580A	OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Splice_Site_p.A1270A|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3623	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTTTCCAGCCCTGCCGGCCA	0.557													8	74	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179480436	179480436	+	Missense_Mutation	SNP	G	G	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr2:179480436G>T	ENST00000589042.1	-	258	48616	c.48392C>A	c.(48391-48393)gCt>gAt	p.A16131D	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13563D|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7191D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7066D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7258D|TTN_ENST00000591111.1_Missense_Mutation_p.A14490D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14490	Fibronectin type-III 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTTACGAGCACAAACTTT	0.373													13	83	---	---	---	---	0	0
F11	2160	broad.mit.edu	37	4	187201675	187201675	+	Missense_Mutation	SNP	T	T	C			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr4:187201675T>C	ENST00000264692.4	+	10	1253	c.920T>C	c.(919-921)aTa>aCa	p.I307T	F11_ENST00000403665.2_Missense_Mutation_p.I359T			P03951	FA11_HUMAN	coagulation factor XI	359	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CCAACTAAAATACTTCACGGG	0.398													11	50	---	---	---	---	0	0
C5orf22	55322	broad.mit.edu	37	5	31534435	31534435	+	Translation_Start_Site	SNP	A	A	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr5:31534435A>T	ENST00000355907.3	+	0	265				C5orf22_ENST00000325366.9_Silent_p.V46V			Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22											kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CCAGTAATGTAAGTTTTTTAC	0.408													27	127	---	---	---	---	0	0
ZNF608	57507	broad.mit.edu	37	5	124036776	124036776	+	Missense_Mutation	SNP	A	A	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr5:124036776A>T	ENST00000306315.5	-	2	1528	c.1093T>A	c.(1093-1095)Tgt>Agt	p.C365S	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	365						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGCCCAAGACACTCTGGCTCT	0.443													9	73	---	---	---	---	0	0
CA8	767	broad.mit.edu	37	8	61137094	61137094	+	Splice_Site	SNP	A	A	C			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr8:61137094A>C	ENST00000317995.4	-	6	890		c.e6+1		CA8_ENST00000528666.1_Splice_Site	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII						one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				GTAAATACTCACCTGGTAATA	0.269													11	101	---	---	---	---	0	0
SPATA6L	55064	broad.mit.edu	37	9	4604231	4604231	+	Missense_Mutation	SNP	T	T	G			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr9:4604231T>G	ENST00000454239.2	-	12	1373	c.1128A>C	c.(1126-1128)agA>agC	p.R376S	SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Missense_Mutation_p.R253S|SPATA6L_ENST00000475086.1_Missense_Mutation_p.R318S			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	318																	GGTAGCTTGGTCTTTCAATGA	0.348													5	44	---	---	---	---	0	0
TRIM8	81603	broad.mit.edu	37	10	104414839	104414839	+	Silent	SNP	G	G	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr10:104414839G>A	ENST00000302424.7	+	3	791	c.669G>A	c.(667-669)gaG>gaA	p.E223E	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8							cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTCGCAGGAGAAAGTGAACC	0.562													5	38	---	---	---	---	0	0
CCNK	8812	broad.mit.edu	37	14	99961911	99961911	+	Missense_Mutation	SNP	C	C	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr14:99961911C>T	ENST00000389879.5	+	4	479	c.356C>T	c.(355-357)aCa>aTa	p.T119I	CCNK_ENST00000555049.1_Missense_Mutation_p.T119I|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	119					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ATCATCAAAACAGCTCGTAGT	0.378													11	79	---	---	---	---	0	0
CNTROB	116840	broad.mit.edu	37	17	7852810	7852810	+	Silent	SNP	G	G	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:7852810G>T	ENST00000380262.3	+	19	3685	c.2760G>T	c.(2758-2760)cgG>cgT	p.R920R	CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Silent_p.R899R|CNTROB_ENST00000563694.1_Silent_p.R898R	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	898					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGAGGAGCCGGGGGGGAGTCT	0.552													7	43	---	---	---	---	0	0
EPN2	22905	broad.mit.edu	37	17	19215386	19215386	+	Missense_Mutation	SNP	G	G	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:19215386G>A	ENST00000314728.5	+	6	1385	c.901G>A	c.(901-903)Gat>Aat	p.D301N	EPN2_ENST00000395626.1_Missense_Mutation_p.D301N|EPN2_ENST00000347697.2_Missense_Mutation_p.D244N|EPN2_ENST00000575595.1_Missense_Mutation_p.D16N|EPN2_ENST00000395618.3_Missense_Mutation_p.D16N|EPN2_ENST00000395620.2_Missense_Mutation_p.D244N|EPN2_ENST00000571254.1_Missense_Mutation_p.D244N	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	301					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CAGGCGGGGTGATGACCTCAG	0.458													8	105	---	---	---	---	0	0
SPECC1	92521	broad.mit.edu	37	17	20109180	20109180	+	Silent	SNP	A	A	G			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:20109180A>G	ENST00000395530.2	+	2	1783	c.1575A>G	c.(1573-1575)ctA>ctG	p.L525L	SPECC1_ENST00000395529.3_Silent_p.L606L|SPECC1_ENST00000584527.1_Silent_p.L24L|SPECC1_ENST00000261503.5_Silent_p.L606L|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Silent_p.L525L|SPECC1_ENST00000395527.4_Silent_p.L606L|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395525.3_Silent_p.L525L|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	606						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAGAATTACTAAAGGCAAACG	0.443													12	93	---	---	---	---	0	0
ZNF823	55552	broad.mit.edu	37	19	11832577	11832577	+	Missense_Mutation	SNP	G	G	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr19:11832577G>T	ENST00000341191.6	-	4	1925	c.1772C>A	c.(1771-1773)gCa>gAa	p.A591E	ZNF823_ENST00000545749.1_Missense_Mutation_p.A409E	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						AGAACTCAATGCTTTCCCACA	0.403										HNSCC(68;0.2)			4	75	---	---	---	---	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351581	42351581	+	Missense_Mutation	SNP	G	G	C			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr19:42351581G>C	ENST00000269945.3	+	2	136	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.E29Q	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	29					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCAGAGCACAGAGCTGATCCC	0.637													15	138	---	---	---	---	0	0
FAM47B	170062	broad.mit.edu	37	X	34960974	34960974	+	Missense_Mutation	SNP	G	G	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chrX:34960974G>A	ENST00000329357.5	+	1	62	c.26G>A	c.(25-27)cGg>cAg	p.R9Q		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	9										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCACAGGACCGGCCAAGGTCC	0.627													5	13	---	---	---	---	0	0
INADL	10207	broad.mit.edu	37	1	62257043	62257043	+	Silent	SNP	T	T	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:62257043T>C	ENST00000371158.2	+	9	1206	c.1092T>C	c.(1090-1092)taT>taC	p.Y364Y	INADL_ENST00000316485.6_Silent_p.Y364Y	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	364					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTGAAACTTATAATGTTGAGC	0.323													19	34	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	186024595	186024595	+	Silent	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:186024595C>T	ENST00000271588.4	+	45	7162	c.6933C>T	c.(6931-6933)tcC>tcT	p.S2311S	HMCN1_ENST00000367492.2_Silent_p.S2311S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2311	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGTATCTCCTTGGAGTGTG	0.478													10	37	---	---	---	---	0	0
CFHR1	3078	broad.mit.edu	37	1	196794779	196794779	+	Missense_Mutation	SNP	G	G	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:196794779G>T	ENST00000320493.5	+	2	319	c.231G>T	c.(229-231)tgG>tgT	p.W77C	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.W77C	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	77	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AAGAAGGATGGTCACCAACAC	0.388													13	50	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228444396	228444396	+	Missense_Mutation	SNP	G	G	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr1:228444396G>T	ENST00000570156.2	+	16	4704	c.4630G>T	c.(4630-4632)Gtg>Ttg	p.V1544L	OBSCN_ENST00000422127.1_Missense_Mutation_p.V1452L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1452L|OBSCN_ENST00000359599.6_Missense_Mutation_p.V16L|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	521	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCACAGGGAGGTGCAGGCCCA	0.617													15	45	---	---	---	---	0	0
KCNS3	3790	broad.mit.edu	37	2	18112559	18112559	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr2:18112559G>A	ENST00000403915.1	+	3	735	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	KCNS3_ENST00000304101.4_Missense_Mutation_p.C95Y|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	95					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGGAGCTGTGCGTATTCTCA	0.473													33	84	---	---	---	---	0	0
PSD4	23550	broad.mit.edu	37	2	113958986	113958986	+	Silent	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr2:113958986G>A	ENST00000441564.3	+	17	3247	c.3078G>A	c.(3076-3078)caG>caA	p.Q1026Q	PSD4_ENST00000245796.6_Silent_p.Q1055Q			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCGCAATCAGCTGTGAAGCC	0.562													12	24	---	---	---	---	0	0
CD14	929	broad.mit.edu	37	5	140012472	140012472	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:140012472G>A	ENST00000302014.6	-	2	726	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	CD14_ENST00000401743.2_Missense_Mutation_p.R33C	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	33					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACGCAGCGGAAATCTTCA	0.612													3	18	---	---	---	---	0	0
PCDHA4	0	broad.mit.edu	37	5	140187407	140187407	+	Missense_Mutation	SNP	T	T	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:140187407T>C	ENST00000530339.1	+	1	635	c.635T>C	c.(634-636)cTc>cCc	p.L212P	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L212P|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L212P	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTAGTGCTCACAGCCACT	0.468													24	62	---	---	---	---	0	0
PCDHGA12	0	broad.mit.edu	37	5	140811043	140811043	+	Silent	SNP	A	A	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr5:140811043A>G	ENST00000252085.3	+	1	859	c.717A>G	c.(715-717)gcA>gcG	p.A239A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCACCAGCGTTTG	0.657													14	41	---	---	---	---	0	0
ABCC10	89845	broad.mit.edu	37	6	43403887	43403887	+	Missense_Mutation	SNP	G	G	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:43403887G>C	ENST00000244533.3	+	4	2052	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	ABCC10_ENST00000372530.4_Missense_Mutation_p.E593Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	593						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCCCCTGCAGAGCCATCTAC	0.498													42	116	---	---	---	---	0	0
PKHD1	5314	broad.mit.edu	37	6	51935833	51935833	+	Missense_Mutation	SNP	A	A	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:51935833A>G	ENST00000371117.3	-	9	913	c.638T>C	c.(637-639)cTg>cCg	p.L213P	PKHD1_ENST00000340994.4_Missense_Mutation_p.L213P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	213	IPT/TIG 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGGCACTGCAGAGTCCCAAG	0.413													18	62	---	---	---	---	0	0
PHF3	23469	broad.mit.edu	37	6	64422424	64422424	+	Missense_Mutation	SNP	A	A	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:64422424A>G	ENST00000262043.3	+	16	5280	c.4940A>G	c.(4939-4941)aAc>aGc	p.N1647S	PHF3_ENST00000393387.1_Missense_Mutation_p.N1647S			Q92576	PHF3_HUMAN	PHD finger protein 3	1647					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAGTTTATCAACCTGAAAAGG	0.433													5	19	---	---	---	---	0	0
RAET1E	135250	broad.mit.edu	37	6	150211114	150211114	+	Missense_Mutation	SNP	T	T	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:150211114T>A	ENST00000532335.1	-	3	599	c.253A>T	c.(253-255)Agc>Tgc	p.S85C	RAET1E_ENST00000357183.4_Missense_Mutation_p.S85C|RAET1E_ENST00000367363.3_Missense_Mutation_p.S49C|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.S85C|RP11-244K5.8_ENST00000606915.1_RNA	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	85	MHC class I alpha-1 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCCCAAGTGCTGGTGGCATAT	0.493													6	47	---	---	---	---	0	0
FAM83H	286077	broad.mit.edu	37	8	144810218	144810218	+	Silent	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr8:144810218G>A	ENST00000388913.3	-	5	1538	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	471					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTCGAACAGGCCTTGCGGGC	0.716													3	5	---	---	---	---	0	0
LGI1	9211	broad.mit.edu	37	10	95557115	95557115	+	Missense_Mutation	SNP	T	T	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr10:95557115T>C	ENST00000371418.4	+	8	1489	c.1229T>C	c.(1228-1230)aTt>aCt	p.I410T	LGI1_ENST00000542308.1_Missense_Mutation_p.I362T|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	410					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.I410T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CGTCCTGTAATTTATCAGTGG	0.423													22	60	---	---	---	---	0	0
PRG2	5553	broad.mit.edu	37	11	57154994	57154994	+	Missense_Mutation	SNP	C	C	T	rs146228047		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:57154994C>T	ENST00000311862.5	-	6	696	c.623G>A	c.(622-624)cGt>cAt	p.R208H	PRG2_ENST00000533605.1_Missense_Mutation_p.R197H|PRG2_ENST00000525955.1_Missense_Mutation_p.R208H	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGCTCGACGCCAGTGGCC	0.587													12	36	---	---	---	---	0	0
C11orf24	53838	broad.mit.edu	37	11	68029279	68029279	+	Missense_Mutation	SNP	G	G	A			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:68029279G>A	ENST00000304271.6	-	4	1586	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	395						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GTCTACCACGGCCTGGGTGAG	0.587													16	42	---	---	---	---	0	0
FLI1	2313	broad.mit.edu	37	11	128680406	128680406	+	Silent	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:128680406C>T	ENST00000527786.2	+	9	1371	c.882C>T	c.(880-882)agC>agT	p.S294S	FLI1_ENST00000281428.8_Silent_p.S228S|FLI1_ENST00000534087.2_Silent_p.S261S|FLI1_ENST00000525560.1_Silent_p.S101S|FLI1_ENST00000344954.6_Silent_p.S261S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCTCCGACAGCGCCAACGCCA	0.627			T	EWSR1	Ewing sarcoma								3	12	---	---	---	---	0	0
NTM	50863	broad.mit.edu	37	11	132016375	132016375	+	Missense_Mutation	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr11:132016375C>T	ENST00000374786.1	+	2	846	c.367C>T	c.(367-369)Cca>Tca	p.P123S	NTM_ENST00000374784.1_Missense_Mutation_p.P123S|NTM_ENST00000374791.3_Missense_Mutation_p.P123S|NTM_ENST00000425719.2_Missense_Mutation_p.P123S|NTM_ENST00000539799.1_Missense_Mutation_p.P123S|NTM_ENST00000427481.2_Missense_Mutation_p.P114S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	123	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGACAACCACCCAAAGACCTC	0.572													11	35	---	---	---	---	0	0
LRRK2	120892	broad.mit.edu	37	12	40697958	40697958	+	Nonsense_Mutation	SNP	A	A	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:40697958A>T	ENST00000343742.2	+	27	3920	c.3799A>T	c.(3799-3801)Aaa>Taa	p.K1267*	LRRK2_ENST00000298910.7_Intron			Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	0					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTGCCACTTAAAAAATATAC	0.299													10	24	---	---	---	---	0	0
LRRK2	120892	broad.mit.edu	37	12	40697959	40697959	+	Missense_Mutation	SNP	A	A	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:40697959A>T	ENST00000343742.2	+	27	3921	c.3800A>T	c.(3799-3801)aAa>aTa	p.K1267I	LRRK2_ENST00000298910.7_Intron			Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	0					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGCCACTTAAAAAATATACT	0.294													10	22	---	---	---	---	0	0
ARID2	196528	broad.mit.edu	37	12	46245717	46245717	+	Missense_Mutation	SNP	T	T	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:46245717T>G	ENST00000334344.6	+	15	3983	c.3811T>G	c.(3811-3813)Tgc>Ggc	p.C1271G	ARID2_ENST00000422737.1_Missense_Mutation_p.C1122G|ARID2_ENST00000444670.1_Missense_Mutation_p.C881G|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1271					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAACCCGTCCTGCCGACGAGG	0.423			"""N, S, F"""		hepatocellular carcinoma								15	21	---	---	---	---	0	0
LETMD1	25875	broad.mit.edu	37	12	51442945	51442945	+	Missense_Mutation	SNP	T	T	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:51442945T>C	ENST00000418425.2	+	2	270	c.251T>C	c.(250-252)gTc>gCc	p.V84A	LETMD1_ENST00000262055.4_Missense_Mutation_p.V84A|LETMD1_ENST00000550929.1_Missense_Mutation_p.V28A|LETMD1_ENST00000547008.1_Missense_Mutation_p.V84A|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000380123.2_Missense_Mutation_p.V84A|LETMD1_ENST00000548516.1_3'UTR	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	84	LETM1.|Required and sufficient for mitochondrial import.		V -> I (in dbSNP:rs12379).			integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CGCTTCTATGTCCTGTACACA	0.398													12	48	---	---	---	---	0	0
STAB2	55576	broad.mit.edu	37	12	104136330	104136330	+	Missense_Mutation	SNP	T	T	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr12:104136330T>G	ENST00000388887.2	+	56	6233	c.6029T>G	c.(6028-6030)cTg>cGg	p.L2010R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2010	Laminin EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGATTGTCTGCGTATGTGG	0.557													42	115	---	---	---	---	0	0
C14orf159	80017	broad.mit.edu	37	14	91639708	91639708	+	Missense_Mutation	SNP	A	A	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr14:91639708A>C	ENST00000518868.1	+	9	1222	c.532A>C	c.(532-534)Aag>Cag	p.K178Q	C14orf159_ENST00000522322.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000523771.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000520328.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000523816.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000412671.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000256324.10_Missense_Mutation_p.K178Q|C14orf159_ENST00000521077.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000428926.2_Missense_Mutation_p.K173Q|C14orf159_ENST00000525393.2_Missense_Mutation_p.K49Q			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	173						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TCCCAAGGACAAGCTGGAAGG	0.567											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	59	---	---	---	---	0	0
ITGB4	3691	broad.mit.edu	37	17	73728052	73728052	+	Silent	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr17:73728052C>T	ENST00000200181.3	+	11	1562	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Silent_p.L459L|ITGB4_ENST00000450894.3_Silent_p.L459L|ITGB4_ENST00000579662.1_Silent_p.L459L|ITGB4_ENST00000339591.3_Silent_p.L459L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	459	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCTGCGAGCTGGTACAACG	0.617													5	42	---	---	---	---	0	0
RANBP3	8498	broad.mit.edu	37	19	5923895	5923895	+	Missense_Mutation	SNP	C	C	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr19:5923895C>G	ENST00000340578.6	-	12	1084	c.1027G>C	c.(1027-1029)Gat>Cat	p.D343H	RANBP3_ENST00000541471.1_Missense_Mutation_p.D215H|RANBP3_ENST00000034275.8_Missense_Mutation_p.D275H|RANBP3_ENST00000439268.2_Missense_Mutation_p.D338H|RANBP3_ENST00000591092.1_Missense_Mutation_p.D270H	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	343					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CTGTTGGCATCTGAACTGACC	0.557													8	69	---	---	---	---	0	0
NCOA6	23054	broad.mit.edu	37	20	33329897	33329897	+	Missense_Mutation	SNP	C	C	T			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr20:33329897C>T	ENST00000374796.2	-	12	6733	c.4163G>A	c.(4162-4164)gGg>gAg	p.G1388E	NCOA6_ENST00000359003.2_Missense_Mutation_p.G1388E			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1388					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGGAAAGCTCCCAGGTACAGG	0.507													14	40	---	---	---	---	0	0
CHD6	0	broad.mit.edu	37	20	40127969	40127969	+	Missense_Mutation	SNP	A	A	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr20:40127969A>G	ENST00000373233.3	-	6	1058	c.881T>C	c.(880-882)aTt>aCt	p.I294T	CHD6_ENST00000309279.7_Missense_Mutation_p.I294T|CHD6_ENST00000373222.3_Missense_Mutation_p.I329T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	294	Chromo 1.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GATCTTCTCAATGATGTTTGC	0.378													8	11	---	---	---	---	0	0
ATP5J	522	broad.mit.edu	37	21	27101953	27101953	+	Missense_Mutation	SNP	T	T	G			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr21:27101953T>G	ENST00000400093.3	-	2	844	c.153A>C	c.(151-153)aaA>aaC	p.K51N	ATP5J_ENST00000400099.1_Missense_Mutation_p.K51N|ATP5J_ENST00000400094.1_Missense_Mutation_p.K51N|ATP5J_ENST00000400090.3_Missense_Mutation_p.K51N|ATP5J_ENST00000457143.2_Missense_Mutation_p.K59N|ATP5J_ENST00000284971.3_Missense_Mutation_p.K51N|ATP5J_ENST00000400087.3_Missense_Mutation_p.K51N	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	51					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						GTCGCTTAGATTTGTATTCTC	0.328													11	29	---	---	---	---	0	0
XBP1	7494	broad.mit.edu	37	22	29195090	29195090	+	Silent	SNP	A	A	C			TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr22:29195090A>C	ENST00000216037.6	-	2	351	c.279T>G	c.(277-279)gcT>gcG	p.A93A	XBP1_ENST00000405219.3_Silent_p.A43A|XBP1_ENST00000344347.5_Silent_p.A93A|XBP1_ENST00000403532.3_Silent_p.A93A	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	93					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						CACTCATTCGAGCCTTCTTTC	0.403													15	49	---	---	---	---	0	0
ESPNP	0	broad.mit.edu	37	1	17017774	17017774	+	RNA	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:17017774G>A	ENST00000492551.1	-	0	1953					NR_026567.1																						CTGGCCAGCCGGGCCTCCTCC	0.662													3	7	---	---	---	---	0	0
TMEM50A	23585	broad.mit.edu	37	1	25679432	25679432	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:25679432A>G	ENST00000374358.4	+	5	887	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	TMEM50A_ENST00000480937.1_Intron	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	112						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		GATTGCATCTATGTGGATTCT	0.343													28	51	---	---	---	---	0	0
CD5L	922	broad.mit.edu	37	1	157805768	157805768	+	Nonsense_Mutation	SNP	A	A	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:157805768A>T	ENST00000368174.4	-	3	329	c.233T>A	c.(232-234)tTg>tAg	p.L78*	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	78	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGCTCATACAAAATACCACT	0.527													18	141	---	---	---	---	0	0
BCL11A	53335	broad.mit.edu	37	2	60688671	60688671	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:60688671G>A	ENST00000335712.6	-	4	1603	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	BCL11A_ENST00000537768.1_Missense_Mutation_p.A128V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.A459V|BCL11A_ENST00000538214.1_Missense_Mutation_p.A425V|BCL11A_ENST00000358510.4_Missense_Mutation_p.A425V|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	459					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGCGCTGCTGGCGCTGCCCAC	0.647			T	IGH@	B-CLL								13	18	---	---	---	---	0	0
ANKRD36BP2	0	broad.mit.edu	37	2	89100664	89100664	+	RNA	SNP	C	C	G			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:89100664C>G	ENST00000393525.3	+	0	1138																											AAAGGCAATACTTAATATTCA	0.363													26	89	---	---	---	---	0	0
IGKV1-27	0	broad.mit.edu	37	2	89512999	89512999	+	RNA	SNP	C	C	G			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:89512999C>G	ENST00000498435.1	-	0	290																											CCCAGATCCACTGCCACTGAA	0.488													5	66	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	141458086	141458086	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:141458086C>A	ENST00000389484.3	-	41	7503	c.6532G>T	c.(6532-6534)Gat>Tat	p.D2178Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2178	EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAACTCCATCTTCTGCCAAA	0.408										TSP Lung(27;0.18)			32	89	---	---	---	---	0	0
G6PC2	57818	broad.mit.edu	37	2	169758016	169758016	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:169758016T>C	ENST00000375363.3	+	1	267	c.175T>C	c.(175-177)Tgg>Cgg	p.W59R	G6PC2_ENST00000429379.2_Missense_Mutation_p.W59R|G6PC2_ENST00000421979.1_Missense_Mutation_p.W59R|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	59					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CAAGATGATATGGGTAGCAGT	0.294													25	36	---	---	---	---	0	0
COL4A4	1286	broad.mit.edu	37	2	227973563	227973563	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:227973563G>A	ENST00000396625.3	-	11	886	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	COL4A4_ENST00000329662.7_Missense_Mutation_p.R227C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	227	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAACCTGGACGCCCTGGTTGG	0.428													9	24	---	---	---	---	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238683013	238683013	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:238683013G>C	ENST00000308482.9	+	23	1789	c.1720G>C	c.(1720-1722)Gag>Cag	p.E574Q		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	623	DNA-binding.|Lys-rich.				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AATAAGGTTAGAGAGTCAAGT	0.323													3	14	---	---	---	---	0	0
ANAPC4	29945	broad.mit.edu	37	4	25393993	25393993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr4:25393993G>T	ENST00000315368.3	+	10	881	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.E247*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	247					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTCTTACCTGAAGTAACTCG	0.338													15	72	---	---	---	---	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890653	63890653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr5:63890653C>T	ENST00000334025.2	+	4	906	c.580C>T	c.(580-582)Cag>Tag	p.Q194*		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	194					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		ACATTCCTGGCAGGTTTCCAC	0.483													13	33	---	---	---	---	0	0
RP11-848G14.2	0	broad.mit.edu	37	5	68902931	68902931	+	RNA	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr5:68902931C>T	ENST00000510264.2	+	0	6																											TAAATATTTTCTCACTGCTTC	0.408													20	188	---	---	---	---	0	0
PCDHAC1	0	broad.mit.edu	37	5	140308857	140308857	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr5:140308857T>A	ENST00000253807.2	+	1	2380	c.2380T>A	c.(2380-2382)Tcc>Acc	p.S794T	PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S794T|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGCCAATATCCTGTATTCA	0.463													24	64	---	---	---	---	0	0
LINGO2	158038	broad.mit.edu	37	9	27948877	27948877	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr9:27948877G>T	ENST00000379992.2	-	6	2242	c.1793C>A	c.(1792-1794)cCc>cAc	p.P598H	LINGO2_ENST00000308675.3_Missense_Mutation_p.P598H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	598						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAACCTCCTGGGTCCAGCTAC	0.463													27	70	---	---	---	---	0	0
SVEP1	79987	broad.mit.edu	37	9	113208175	113208175	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr9:113208175T>C	ENST00000401783.2	-	26	4741	c.4405A>G	c.(4405-4407)Atc>Gtc	p.I1469V	SVEP1_ENST00000302728.8_Missense_Mutation_p.I1469V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.I1446V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1469	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCATAGGAGATTGGTGTTCCA	0.453													18	49	---	---	---	---	0	0
DNA2	1763	broad.mit.edu	37	10	70231685	70231685	+	Silent	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr10:70231685G>A	ENST00000399180.2	-	1	194	c.195C>T	c.(193-195)agC>agT	p.S65S	DNA2_ENST00000399179.2_5'UTR			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	0					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AACACAGAAAGCTTAGAAAAG	0.617													6	20	---	---	---	---	0	0
OR51S1	119692	broad.mit.edu	37	11	4870309	4870309	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:4870309G>A	ENST00000322101.2	-	1	205	c.130C>T	c.(130-132)Ctt>Ttt	p.L44F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGAGAGAAGGTAGACAGCA	0.572													7	41	---	---	---	---	0	0
OR51A7	119687	broad.mit.edu	37	11	4928816	4928816	+	Silent	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:4928816C>T	ENST00000359350.4	+	1	217	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGACATGGGCCTGTCCCTCTC	0.468													30	58	---	---	---	---	0	0
OR52H1	390067	broad.mit.edu	37	11	5566336	5566336	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:5566336A>T	ENST00000322653.4	-	1	443	c.418T>A	c.(418-420)Tat>Aat	p.Y140N	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGTGGTATATCTCAAGGGA	0.438													14	27	---	---	---	---	0	0
LTBP2	4053	broad.mit.edu	37	14	74989505	74989505	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr14:74989505C>T	ENST00000261978.4	-	16	3033	c.2647G>A	c.(2647-2649)Gcc>Acc	p.A883T	LTBP2_ENST00000556690.1_Missense_Mutation_p.A883T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	883	Cys-rich.|EGF-like 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGCAGTAGGCCTGGCTGGGG	0.612													8	25	---	---	---	---	0	0
KDM1A	23028	broad.mit.edu	37	1	23376958	23376958	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:23376958T>C	ENST00000400181.4	+	4	760	c.656T>C	c.(655-657)aTt>aCt	p.I219T	KDM1A_ENST00000542151.1_Missense_Mutation_p.I219T|KDM1A_ENST00000356634.3_Missense_Mutation_p.I199T|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	199	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTTCCAGATATTATCAGTGGA	0.433													5	44	---	---	---	---	0	0
CDC7	8317	broad.mit.edu	37	1	91977213	91977213	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:91977213T>C	ENST00000428239.1	+	5	654	c.395T>C	c.(394-396)aTt>aCt	p.I132T	CDC7_ENST00000234626.6_Missense_Mutation_p.I132T|CDC7_ENST00000430031.2_Missense_Mutation_p.I104T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	132	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CATGTAGTTATTGCTATGCCA	0.323													5	82	---	---	---	---	0	0
APOB	338	broad.mit.edu	37	2	21249774	21249774	+	Silent	SNP	A	A	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:21249774A>G	ENST00000233242.1	-	15	2257	c.2130T>C	c.(2128-2130)ttT>ttC	p.F710F	APOB_ENST00000399256.4_Silent_p.F710F	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	710					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTCTGGGAAAAATCCTTGCT	0.423													9	42	---	---	---	---	0	0
IMP4	92856	broad.mit.edu	37	2	131103658	131103658	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:131103658C>T	ENST00000259239.3	+	7	1370	c.662C>T	c.(661-663)gCa>gTa	p.A221V	IMP4_ENST00000409935.1_Missense_Mutation_p.A221V	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	221	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					ATCACCTTCGCAAACCAGGAC	0.572													7	22	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	141571318	141571318	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:141571318G>A	ENST00000389484.3	-	32	6238	c.5267C>T	c.(5266-5268)aCc>aTc	p.T1756I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1756					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTATTTATGGTTCCATTCCC	0.348										TSP Lung(27;0.18)			3	55	---	---	---	---	0	0
PER2	8864	broad.mit.edu	37	2	239157852	239157852	+	Splice_Site	SNP	T	T	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:239157852T>G	ENST00000254657.3	-	22	3748	c.3469A>C	c.(3469-3471)Aat>Cat	p.N1157H	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1157	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCTTCTAAATTTCTTCGCAAG	0.393													3	71	---	---	---	---	0	0
IGSF10	285313	broad.mit.edu	37	3	151164494	151164494	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr3:151164494G>A	ENST00000282466.3	-	4	3274	c.3275C>T	c.(3274-3276)gCt>gTt	p.A1092V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1092					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAATGTCAGCTTTGGGGAA	0.483													10	81	---	---	---	---	0	0
PRDM5	11107	broad.mit.edu	37	4	121702371	121702371	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr4:121702371C>T	ENST00000264808.3	-	12	1610	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K	PRDM5_ENST00000428209.2_Missense_Mutation_p.R426K|PRDM5_ENST00000515109.1_Missense_Mutation_p.R426K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	457					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTCTTGTGTCTTTCATGAAC	0.393													11	41	---	---	---	---	0	0
C6	729	broad.mit.edu	37	5	41201771	41201771	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr5:41201771C>G	ENST00000263413.3	-	3	453	c.189G>C	c.(187-189)caG>caC	p.Q63H	C6_ENST00000337836.5_Missense_Mutation_p.Q63H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	63	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCTGCAAATCTGTTCACAAA	0.423													3	55	---	---	---	---	0	0
GPR98	84059	broad.mit.edu	37	5	89981695	89981695	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr5:89981695C>T	ENST00000405460.2	+	29	6469	c.6373C>T	c.(6373-6375)Cca>Tca	p.P2125S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2125					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTCTCAGCACCAATTGTCCG	0.433													3	16	---	---	---	---	0	0
FAM71B	153745	broad.mit.edu	37	5	156590508	156590508	+	Silent	SNP	C	C	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr5:156590508C>G	ENST00000302938.4	-	2	863	c.768G>C	c.(766-768)ggG>ggC	p.G256G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	256	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCAGCAGCCCCTGGAGTGC	0.582													7	48	---	---	---	---	0	0
RSPO3	84870	broad.mit.edu	37	6	127471649	127471649	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr6:127471649G>A	ENST00000356698.4	+	3	957	c.368G>A	c.(367-369)gGa>gAa	p.G123E	RSPO3_ENST00000368317.3_Missense_Mutation_p.G123E|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	123						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TTACACCTTGGAAAGTGCCTT	0.373													4	51	---	---	---	---	0	0
HAS2	3037	broad.mit.edu	37	8	122626638	122626638	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr8:122626638G>A	ENST00000303924.4	-	4	1907	c.1370C>T	c.(1369-1371)aCa>aTa	p.T457I		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	457						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTGTTTATTGTTGCAATTGC	0.428													9	216	---	---	---	---	0	0
TOPORS	10210	broad.mit.edu	37	9	32541842	32541842	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:32541842T>C	ENST00000360538.2	-	3	2797	c.2681A>G	c.(2680-2682)aAg>aGg	p.K894R	TOPORS_ENST00000379858.1_Missense_Mutation_p.K829R	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	894	Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATGGTGTttcttatgcttctt	0.373													19	94	---	---	---	---	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994252	91994252	+	Silent	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:91994252G>A	ENST00000450295.1	-	16	2732	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000356444.2_Silent_p.P652P|SEMA4D_ENST00000438547.2_Silent_p.P652P|SEMA4D_ENST00000422704.2_Silent_p.P652P|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	652					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.P652P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCCACTACGGGCTTTGGAA	0.557													8	137	---	---	---	---	0	0
ABCA1	19	broad.mit.edu	37	9	107547843	107547843	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:107547843C>T	ENST00000374736.3	-	49	6873	c.6479G>A	c.(6478-6480)gGa>gAa	p.G2160E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2160					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAATGCAAGTCCAAAGAAATC	0.438													4	82	---	---	---	---	0	0
KCNC1	3746	broad.mit.edu	37	11	17793787	17793787	+	Silent	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr11:17793787G>A	ENST00000379472.3	+	2	1176	c.1146G>A	c.(1144-1146)acG>acA	p.T382T	KCNC1_ENST00000265969.6_Silent_p.T382T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	382						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T382T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GTGAGCACACGCACTTTAAGA	0.602													3	37	---	---	---	---	0	0
MTMR2	8898	broad.mit.edu	37	11	95571268	95571268	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr11:95571268C>G	ENST00000393223.3	-	15	2029	c.1367G>C	c.(1366-1368)aGa>aCa	p.R456T	MTMR2_ENST00000346299.5_Missense_Mutation_p.R528T|MTMR2_ENST00000409459.1_Missense_Mutation_p.R456T|MTMR2_ENST00000352297.7_Missense_Mutation_p.R456T	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	528	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTCTTTTCCTCTCTGTTGTTC	0.368													6	53	---	---	---	---	0	0
FAM155A	728215	broad.mit.edu	37	13	108518235	108518235	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr13:108518235C>T	ENST00000375915.2	-	1	848	c.710G>A	c.(709-711)gGg>gAg	p.G237E		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	237						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ACTGGACAACCCCGAGAACAA	0.537													3	49	---	---	---	---	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74385943	74385943	+	RNA	SNP	T	T	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr16:74385943T>A	ENST00000429810.2	-	0	809																											CTCACCATTTTGGGAGGCAGC	0.512													8	39	---	---	---	---	0	0
DAPK3	1613	broad.mit.edu	37	19	3964647	3964647	+	Silent	SNP	G	G	T	rs144975421	byFrequency	TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr19:3964647G>T	ENST00000545797.2	-	3	648	c.405C>A	c.(403-405)atC>atA	p.I135I	DAPK3_ENST00000301264.3_Silent_p.I135I			O43293	DAPK3_HUMAN	death-associated protein kinase 3	135	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGTGTGCGATGCGCTTAG	0.642													13	74	---	---	---	---	0	0
ZNF558	148156	broad.mit.edu	37	19	8931882	8931882	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr19:8931882T>C	ENST00000601372.1	-	7	932	c.221A>G	c.(220-222)gAg>gGg	p.E74G	ZNF558_ENST00000444186.2_Missense_Mutation_p.E3G|ZNF558_ENST00000301475.1_Missense_Mutation_p.E74G			Q96NG5	ZN558_HUMAN	zinc finger protein 558	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCTGCAGTTCTCCAGCATCAC	0.512													4	28	---	---	---	---	0	0
SYNC	81493	broad.mit.edu	37	1	33149934	33149934	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:33149934A>G	ENST00000373484.3	-	3	1382	c.1283T>C	c.(1282-1284)gTg>gCg	p.V428A	SYNC_ENST00000409190.3_Missense_Mutation_p.V428A|RBBP4_ENST00000373493.5_3'UTR	NM_001161708.1	NP_001155180	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	428	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGGAGTTGCACCCCATTTCT	0.433													6	81	---	---	---	---	0	0
TOR3A	64222	broad.mit.edu	37	1	179064325	179064325	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:179064325C>T	ENST00000367627.3	+	6	1918	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	389					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						AAGTCTATTTCCCAGAGGATT	0.493													8	131	---	---	---	---	0	0
SP3	6670	broad.mit.edu	37	2	174820690	174820690	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr2:174820690C>A	ENST00000310015.6	-	4	1080	c.550G>T	c.(550-552)Gtt>Ttt	p.V184F	SP3_ENST00000418194.2_Missense_Mutation_p.V116F|SP3_ENST00000455789.2_Missense_Mutation_p.V131F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	184	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CCAATTTGAACCTGCTGACCA	0.413													29	159	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179403722	179403722	+	Silent	SNP	C	C	T			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr2:179403722C>T	ENST00000589042.1	-	353	99164	c.98940G>A	c.(98938-98940)ctG>ctA	p.L32980L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L24107L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.L24040L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.L23915L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Silent_p.L31339L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.L30412L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31339							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTCTCACTCAGGCCAACAT	0.458													7	31	---	---	---	---	0	0
C4orf19	55286	broad.mit.edu	37	4	37591911	37591911	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:37591911G>C	ENST00000284437.6	+	3	412	c.234G>C	c.(232-234)tgG>tgC	p.W78C	C4orf19_ENST00000381980.4_Missense_Mutation_p.W78C|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	78										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCCCTGCTGGCCTCACCAAG	0.627													6	27	---	---	---	---	0	0
EMCN	51705	broad.mit.edu	37	4	101344519	101344519	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:101344519G>C	ENST00000296420.4	-	6	636	c.458C>G	c.(457-459)aCa>aGa	p.T153R	EMCN_ENST00000305864.3_Intron|EMCN_ENST00000511970.1_Missense_Mutation_p.T140R	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	153						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TGAGGTTAATGTACCAGTTTT	0.398													5	41	---	---	---	---	0	0
FAT4	79633	broad.mit.edu	37	4	126411435	126411435	+	Silent	SNP	G	G	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:126411435G>C	ENST00000394329.3	+	17	13471	c.13458G>C	c.(13456-13458)ggG>ggC	p.G4486G	FAT4_ENST00000335110.5_Silent_p.G2727G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4486					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G4429G(1)|p.G4486G(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCCTGCGGGGCATGTCTGTG	0.622													7	43	---	---	---	---	0	0
SLC30A8	169026	broad.mit.edu	37	8	118169934	118169934	+	Silent	SNP	C	C	T			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr8:118169934C>T	ENST00000427715.2	+	7	710	c.276C>T	c.(274-276)atC>atT	p.I92I	SLC30A8_ENST00000521243.1_Silent_p.I92I|SLC30A8_ENST00000456015.2_Silent_p.I141I|SLC30A8_ENST00000519688.1_Silent_p.I92I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	141					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCCTAGAGATCCTTGGTGCCC	0.527													13	103	---	---	---	---	0	0
OR8H2	390151	broad.mit.edu	37	11	55872975	55872975	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr11:55872975T>C	ENST00000313503.1	+	1	457	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F153L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTGATTGGCTTTATAGACTC	0.443										HNSCC(53;0.14)			14	97	---	---	---	---	0	0
OR5M1	390168	broad.mit.edu	37	11	56380683	56380683	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr11:56380683G>A	ENST00000526538.1	-	1	295	c.296C>T	c.(295-297)aCa>aTa	p.T99I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGACACTGTGTGAAGCATCC	0.443													4	42	---	---	---	---	0	0
RPH3A	22895	broad.mit.edu	37	12	113307699	113307699	+	Splice_Site	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr12:113307699C>A	ENST00000389385.4	+	10	1148	c.651C>A	c.(649-651)ggC>ggA	p.G217G	RPH3A_ENST00000551052.1_Splice_Site_p.G213G|RPH3A_ENST00000415485.3_Splice_Site_p.G217G|RPH3A_ENST00000548866.1_Splice_Site_p.G168G|RPH3A_ENST00000420983.2_Splice_Site_p.G217G|RPH3A_ENST00000447659.2_Splice_Site_p.G168G|RPH3A_ENST00000543106.2_Splice_Site_p.G217G|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	217	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCTTTCCAGGCCCTGACCCAG	0.547													7	38	---	---	---	---	0	0
DNAH3	55567	broad.mit.edu	37	16	20974749	20974749	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr16:20974749G>A	ENST00000261383.3	-	53	10456	c.10457C>T	c.(10456-10458)cCa>cTa	p.P3486L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3486					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGGACCGCTGGCACCATTTT	0.532													3	31	---	---	---	---	0	0
ITGAX	3687	broad.mit.edu	37	16	31393167	31393167	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr16:31393167C>A	ENST00000268296.4	+	30	3552	c.3431C>A	c.(3430-3432)gCa>gAa	p.A1144E	ITGAX_ENST00000562522.1_Missense_Mutation_p.A1144E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1144					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ATGGAGGAGGCAAATGGACAA	0.527													4	56	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9059816	9059816	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:9059816T>C	ENST00000397910.4	-	3	27833	c.27630A>G	c.(27628-27630)atA>atG	p.I9210M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9212	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGGCCAGTATTTCAGCTG	0.488													3	42	---	---	---	---	0	0
SWSAP1	126074	broad.mit.edu	37	19	11486247	11486247	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:11486247C>A	ENST00000312423.2	+	2	304	c.245C>A	c.(244-246)gCc>gAc	p.A82D		NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN	SWIM-type zinc finger 7 associated protein 1	82																	CTGTGCTCTGCCCATGAGGCC	0.612													4	108	---	---	---	---	0	0
NLRP12	91662	broad.mit.edu	37	19	54314477	54314477	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:54314477G>A	ENST00000324134.6	-	3	604	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	NLRP12_ENST00000354278.3_Missense_Mutation_p.R146C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R146C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391775.3_Missense_Mutation_p.R146C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R146C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	146					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCCTAGGCGCGCATTGCGG	0.572													13	77	---	---	---	---	0	0
CECR2	27443	broad.mit.edu	37	22	18020457	18020457	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr22:18020457A>G	ENST00000400573.5	+	14	1793	c.1786A>G	c.(1786-1788)Aca>Gca	p.T596A	CECR2_ENST00000262608.8_Missense_Mutation_p.T597A|CECR2_ENST00000400585.2_Missense_Mutation_p.T455A			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TTGTGGTGGGACACCCAGCCA	0.537													4	36	---	---	---	---	0	0
MANEAL	149175	broad.mit.edu	37	1	38261411	38261411	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr1:38261411G>A	ENST00000373045.6	+	2	934	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	MANEAL_ENST00000525897.1_5'UTR|MANEAL_ENST00000329006.5_5'UTR|MANEAL_ENST00000397631.3_Missense_Mutation_p.V185I	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	185						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGTCTCAGGCGTCCTGGTCCT	0.542													17	64	---	---	---	---	0	0
CAD	790	broad.mit.edu	37	2	27445189	27445189	+	Silent	SNP	A	A	G			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr2:27445189A>G	ENST00000264705.4	+	4	642	c.480A>G	c.(478-480)ccA>ccG	p.P160P	CAD_ENST00000403525.1_Silent_p.P160P	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	160	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCCTGGTACCAGAGGTCTCCA	0.542													10	53	---	---	---	---	0	0
FSIP2	401024	broad.mit.edu	37	2	186671327	186671327	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr2:186671327C>T	ENST00000343098.5	+	17	17561	c.17561C>T	c.(17560-17562)cCc>cTc	p.P5854L	FSIP2_ENST00000424728.1_Missense_Mutation_p.P5765L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAAGTGAACCCAGTAAACCA	0.343													3	62	---	---	---	---	0	0
FRYL	285527	broad.mit.edu	37	4	48567706	48567706	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr4:48567706G>A	ENST00000537810.1	-	29	3776	c.3172C>T	c.(3172-3174)Cac>Tac	p.H1058Y	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000503238.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000358350.4_Missense_Mutation_p.H1058Y			O94915	FRYL_HUMAN	FRY-like	1058					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTCTCTGGTGCACTGTGAAT	0.338													5	42	---	---	---	---	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067087	18067087	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr7:18067087T>C	ENST00000506618.2	-	1	399	c.319A>G	c.(319-321)Atc>Gtc	p.I107V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	107					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTGGCAGAGATTGGGGACCGG	0.463													4	118	---	---	---	---	0	0
NCOA4	8031	broad.mit.edu	37	10	51584630	51584630	+	Silent	SNP	C	C	G			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr10:51584630C>G	ENST00000452682.1	+	9	1029	c.777C>G	c.(775-777)gcC>gcG	p.A259A	NCOA4_ENST00000414907.2_Silent_p.A77A|NCOA4_ENST00000374082.1_Silent_p.A243A|NCOA4_ENST00000374087.4_Silent_p.A243A|NCOA4_ENST00000430396.2_Silent_p.A143A|NCOA4_ENST00000438493.1_Silent_p.A259A|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000443446.1_Silent_p.A243A|NCOA4_ENST00000344348.6_Silent_p.A243A	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	243					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTTCCAGAGCCTGCAATTTCT	0.383			T	RET	papillary thyroid								9	92	---	---	---	---	0	0
NCOA4	8031	broad.mit.edu	37	10	51584701	51584701	+	Nonsense_Mutation	SNP	C	C	G			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr10:51584701C>G	ENST00000452682.1	+	9	1100	c.848C>G	c.(847-849)tCa>tGa	p.S283*	NCOA4_ENST00000414907.2_Nonsense_Mutation_p.S101*|NCOA4_ENST00000374082.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.S267*|NCOA4_ENST00000430396.2_Nonsense_Mutation_p.S167*|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.S283*|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000443446.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000344348.6_Nonsense_Mutation_p.S267*	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	267					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AGTGAAAAATCAAGTTATCAA	0.403			T	RET	papillary thyroid								13	119	---	---	---	---	0	0
FAM13C	220965	broad.mit.edu	37	10	61011334	61011334	+	Splice_Site	SNP	C	C	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr10:61011334C>T	ENST00000373867.3	-	14	1848		c.e14+1		FAM13C_ENST00000373868.2_Splice_Site|FAM13C_ENST00000419214.2_Splice_Site|FAM13C_ENST00000277705.6_Splice_Site|FAM13C_ENST00000468840.2_Splice_Site|FAM13C_ENST00000442566.3_Splice_Site|FAM13C_ENST00000435852.2_Silent_p.R545R	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C											NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGACACATACCTTCCTGTTT	0.378													6	149	---	---	---	---	0	0
RIC3	79608	broad.mit.edu	37	11	8159870	8159870	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr11:8159870C>T	ENST00000343202.4	-	3	441	c.376G>A	c.(376-378)Gag>Aag	p.E126K	RIC3_ENST00000539720.1_Missense_Mutation_p.E77K|RIC3_ENST00000309737.6_Missense_Mutation_p.E126K|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Missense_Mutation_p.E126K	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	126						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTCCCATCCTCTGCAGTTGTT	0.438													38	159	---	---	---	---	0	0
EML3	256364	broad.mit.edu	37	11	62375178	62375178	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr11:62375178G>A	ENST00000394773.2	-	11	1629	c.1322C>T	c.(1321-1323)cCt>cTt	p.P441L	EML3_ENST00000278845.4_Missense_Mutation_p.P442L|EML3_ENST00000494176.2_Missense_Mutation_p.P413L|EML3_ENST00000529309.1_Missense_Mutation_p.P441L|EML3_ENST00000438258.1_Intron|EML3_ENST00000531557.1_Missense_Mutation_p.P224L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	441						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCCATTCCCAGGAACCCCTAC	0.577													5	84	---	---	---	---	0	0
ANO4	121601	broad.mit.edu	37	12	101436230	101436230	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr12:101436230G>T	ENST00000392979.3	+	11	1394	c.1033G>T	c.(1033-1035)Gat>Tat	p.D345Y	ANO4_ENST00000392977.3_Missense_Mutation_p.D380Y|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	380						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CACCACTCTGGATCACAGCCA	0.488										HNSCC(74;0.22)			12	93	---	---	---	---	0	0
DAAM1	23002	broad.mit.edu	37	14	59730213	59730213	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr14:59730213A>C	ENST00000395125.1	+	1	41	c.18A>C	c.(16-18)agA>agC	p.R6S	DAAM1_ENST00000556135.1_Missense_Mutation_p.R6S|DAAM1_ENST00000351081.1_Missense_Mutation_p.R6S|DAAM1_ENST00000360909.3_Missense_Mutation_p.R6S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	6					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAAGAAAGAGAGGTGGACGAG	0.413													9	36	---	---	---	---	0	0
KDM6A	7403	broad.mit.edu	37	X	44938585	44938585	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chrX:44938585G>T	ENST00000377967.4	+	20	3174	c.3133G>T	c.(3133-3135)Gaa>Taa	p.E1045*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E966*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1052*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1000*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1045					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTCATTCCAGGAATCATTGAG	0.338			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								10	17	---	---	---	---	0	0
BNIPL	149428	broad.mit.edu	37	1	151011474	151011474	+	Silent	SNP	G	G	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr1:151011474G>A	ENST00000295294.7	+	4	768	c.159G>A	c.(157-159)ctG>ctA	p.L53L	BNIPL_ENST00000368931.3_Silent_p.L135L	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	135					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGAGCAGCTGGACAGTGGAC	0.502													3	17	---	---	---	---	0	0
NR1I3	0	broad.mit.edu	37	1	161203129	161203129	+	Splice_Site	SNP	C	C	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr1:161203129C>A	ENST00000367983.4	-	4	533		c.e4-1		NR1I3_ENST00000505005.1_Splice_Site|NR1I3_ENST00000511676.1_Splice_Site|NR1I3_ENST00000367979.2_Splice_Site|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000508740.1_Splice_Site|NR1I3_ENST00000412844.2_Splice_Site|NR1I3_ENST00000515452.1_Splice_Site|NR1I3_ENST00000512372.1_Splice_Site|NR1I3_ENST00000504010.1_Splice_Site|NR1I3_ENST00000442691.2_Splice_Site|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367981.3_Splice_Site|NR1I3_ENST00000437437.2_Splice_Site|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367980.2_Splice_Site|NR1I3_ENST00000428574.2_Splice_Site|NR1I3_ENST00000367985.3_Splice_Site|NR1I3_ENST00000515621.1_Splice_Site|NR1I3_ENST00000367982.4_Splice_Site|NR1I3_ENST00000506209.1_Splice_Site|NR1I3_ENST00000367984.4_Splice_Site|NR1I3_ENST00000511944.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GACAGTATCACTGTGCCAGGC	0.577													20	51	---	---	---	---	0	0
ARL13B	200894	broad.mit.edu	37	3	93769715	93769715	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr3:93769715C>G	ENST00000535334.1	+	8	1403	c.880C>G	c.(880-882)Ctt>Gtt	p.L294V	ARL13B_ENST00000539730.1_Missense_Mutation_p.L118V|ARL13B_ENST00000394222.3_Missense_Mutation_p.L397V|ARL13B_ENST00000303097.7_Missense_Mutation_p.L290V|ARL13B_ENST00000471138.1_Missense_Mutation_p.L397V|DHFRL1_ENST00000481631.1_Intron	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	397							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						ACTTGAGCCTCTTGGTGAAAC	0.338													9	36	---	---	---	---	0	0
TRIM42	287015	broad.mit.edu	37	3	140397286	140397286	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr3:140397286A>G	ENST00000286349.3	+	1	406	c.215A>G	c.(214-216)aAt>aGt	p.N72S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	72	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCTTGGGCCAATGATCCCAAC	0.537													17	53	---	---	---	---	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128994429	128994429	+	Splice_Site	SNP	A	A	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr5:128994429A>G	ENST00000274487.4	+	15	2551	c.2406A>G	c.(2404-2406)gcA>gcG	p.A802A	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	802	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAGAGGAGCAGGTAATTTTT	0.313													13	38	---	---	---	---	0	0
PCDHA7	0	broad.mit.edu	37	5	140215501	140215501	+	Silent	SNP	C	C	T			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr5:140215501C>T	ENST00000525929.1	+	1	1533	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	PCDHA7_ENST00000378125.3_Silent_p.H511H|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCAGTGCACGCGGAGAGCG	0.706													36	97	---	---	---	---	0	0
PCDHA8	0	broad.mit.edu	37	5	140222414	140222414	+	Nonsense_Mutation	SNP	C	C	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr5:140222414C>A	ENST00000531613.1	+	1	1508	c.1508C>A	c.(1507-1509)tCg>tAg	p.S503*	PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Nonsense_Mutation_p.S503*|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGCGCTCGCTGTCGAGC	0.667													18	61	---	---	---	---	0	0
PCDHB7	0	broad.mit.edu	37	5	140554104	140554104	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr5:140554104A>G	ENST00000231137.3	+	1	1862	c.1688A>G	c.(1687-1689)tAc>tGc	p.Y563C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		563					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y563F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGTGCTGTACCCGCTGCAG	0.736													14	32	---	---	---	---	0	0
OR12D3	81797	broad.mit.edu	37	6	29342301	29342301	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr6:29342301C>A	ENST00000396806.3	-	1	767	c.764G>T	c.(763-765)gGc>gTc	p.G255V	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						ATATGTGAAGCCCACAGGTCC	0.478													3	40	---	---	---	---	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832986	42832986	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr6:42832986C>G	ENST00000314073.5	+	13	3218	c.3042C>G	c.(3040-3042)atC>atG	p.I1014M	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.I1014M					GLTSCR1-like																		TTAAGAACATCTTGGAACTCA	0.493													11	31	---	---	---	---	0	0
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	rs121913377		TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr7:140453134T>C	ENST00000288602.6	-	15	1861	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATCGAGATTTCACTGTAGCT	0.368		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				11	40	---	---	---	---	0	0
MUC2	4583	broad.mit.edu	37	11	1075772	1075772	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:1075772C>G	ENST00000441003.2	+	2	225	c.198C>G	c.(196-198)gaC>gaG	p.D66E	MUC2_ENST00000359061.5_Missense_Mutation_p.D66E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	66	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCGCCTCCGACTGCCGAGGCT	0.642													7	9	---	---	---	---	0	0
MOGAT2	80168	broad.mit.edu	37	11	75442268	75442268	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:75442268C>A	ENST00000526712.1	+	5	1469	c.696C>A	c.(694-696)aaC>aaA	p.N232K	MOGAT2_ENST00000198801.5_Missense_Mutation_p.N314K			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	314					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGCTGTGCAACCTCTTCGAGG	0.567													16	44	---	---	---	---	0	0
HSPB2	3316	broad.mit.edu	37	11	111784196	111784196	+	Silent	SNP	A	A	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr11:111784196A>G	ENST00000304298.3	+	2	714	c.126A>G	c.(124-126)acA>acG	p.T42T	CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|HSPB2_ENST00000537382.1_Silent_p.T42T|CRYAB_ENST00000533475.1_Intron	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	42					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		TGACCCCCACACTCTACCATG	0.637													30	108	---	---	---	---	0	0
OR4K2	390431	broad.mit.edu	37	14	20344905	20344905	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr14:20344905T>G	ENST00000298642.2	+	1	515	c.479T>G	c.(478-480)gTc>gGc	p.V160G		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGAGTCAGGTCATATTTGCC	0.483													50	237	---	---	---	---	0	0
ITGAX	3687	broad.mit.edu	37	16	31382413	31382413	+	Silent	SNP	G	G	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr16:31382413G>A	ENST00000268296.4	+	15	1840	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	ITGAX_ENST00000562522.1_Silent_p.A573A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	573					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGCGGATCGCGGGCTCCCAGC	0.582													14	50	---	---	---	---	0	0
ZNF536	9745	broad.mit.edu	37	19	31038939	31038939	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr19:31038939C>T	ENST00000355537.3	+	4	2560	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCATCGGGAGCGGCAGAACGG	0.537													8	33	---	---	---	---	0	0
SERHL	94009	broad.mit.edu	37	22	42905063	42905063	+	RNA	SNP	G	G	A			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr22:42905063G>A	ENST00000359906.2	+	0	644					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						TCGTCAGCAGGGAGCTGTGTG	0.552													9	36	---	---	---	---	0	0
CROCCP2	0	broad.mit.edu	37	1	16946393	16946393	+	RNA	SNP	G	G	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:16946393G>A	ENST00000412962.1	-	0	1126																											TCCTGCTGCAGGGCAGCAATC	0.662													3	22	---	---	---	---	0	0
FLG2	388698	broad.mit.edu	37	1	152328894	152328894	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:152328894A>T	ENST00000388718.5	-	3	1440	c.1368T>A	c.(1366-1368)caT>caA	p.H456Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	456	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTAGACTCATGCTGGCCAC	0.493													4	154	---	---	---	---	0	0
SWT1	54823	broad.mit.edu	37	1	185159704	185159704	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:185159704G>T	ENST00000367500.4	+	10	1618	c.1453G>T	c.(1453-1455)Gat>Tat	p.D485Y	SWT1_ENST00000367501.3_Missense_Mutation_p.D485Y	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	485	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGAGAACAATGATGATCGAGT	0.363													10	30	---	---	---	---	0	0
SPAG16	79582	broad.mit.edu	37	2	215274874	215274874	+	Silent	SNP	A	A	G			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr2:215274874A>G	ENST00000331683.5	+	16	1826	c.1731A>G	c.(1729-1731)ttA>ttG	p.L577L	AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L|AC107218.3_ENST00000437883.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	577					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GTCGAGTTTTAGCTCAGGCAA	0.413													3	48	---	---	---	---	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98487336	98487336	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr3:98487336G>T	ENST00000394162.1	+	3	519	c.52G>T	c.(52-54)Gta>Tta	p.V18L	ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18L	NM_001271145.1|NM_006100.3	NP_001258074.1|NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	18					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CCTCTATTATGTACTGCATTG	0.398													41	88	---	---	---	---	0	0
SPATA5	166378	broad.mit.edu	37	4	123848881	123848881	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr4:123848881G>C	ENST00000274008.4	+	2	325	c.256G>C	c.(256-258)Gtg>Ctg	p.V86L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGGTCGACCAGTGTTGCTTAC	0.343													34	55	---	---	---	---	0	0
GCNT2	2651	broad.mit.edu	37	6	10556756	10556756	+	Nonsense_Mutation	SNP	C	C	T	rs55965450		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:10556756C>T	ENST00000316170.3	+	1	517	c.100C>T	c.(100-102)Caa>Taa	p.Q34*	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	35						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCCAAGCTTCCAAAGGCTAAA	0.373													36	70	---	---	---	---	0	0
CNR1	0	broad.mit.edu	37	6	88853757	88853757	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:88853757G>A	ENST00000537554.1	-	2	4799	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	CNR1_ENST00000549716.1_Missense_Mutation_p.P352S|CNR1_ENST00000428600.2_Missense_Mutation_p.P413S|CNR1_ENST00000535130.1_Missense_Mutation_p.P413S|CNR1_ENST00000369499.2_Missense_Mutation_p.P413S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.P380S|CNR1_ENST00000369501.2_Missense_Mutation_p.P413S|CNR1_ENST00000549890.1_Missense_Mutation_p.P413S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	413					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCACAAGAGGGAAACATGCTC	0.562													33	75	---	---	---	---	0	0
PRKDC	5591	broad.mit.edu	37	8	48776073	48776073	+	Silent	SNP	C	C	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr8:48776073C>A	ENST00000314191.2	-	43	5690	c.5634G>T	c.(5632-5634)gtG>gtT	p.V1878V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.V1878V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1879					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAGAATACATCACGTCTAGAA	0.333								Non-homologous end-joining					35	70	---	---	---	---	0	0
ASB6	140459	broad.mit.edu	37	9	132401543	132401543	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr9:132401543C>T	ENST00000277458.4	-	4	614	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ASB6_ENST00000450050.2_Missense_Mutation_p.R71H|ASB6_ENST00000277459.4_Intron	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	150					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GCAGGGCAGGCGCTCAGGCTC	0.652													25	69	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108199783	108199783	+	Silent	SNP	T	T	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr11:108199783T>C	ENST00000278616.4	+	49	7510	c.7125T>C	c.(7123-7125)agT>agC	p.S2375S	ATM_ENST00000452508.2_Silent_p.S2375S|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2375	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATGGAGAAAGTAGTGATGAGC	0.323			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			17	27	---	---	---	---	0	0
CUL4A	8451	broad.mit.edu	37	13	113887612	113887612	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr13:113887612A>C	ENST00000451881.1	+	6	583	c.334A>C	c.(334-336)Agc>Cgc	p.S112R	CUL4A_ENST00000375441.3_Missense_Mutation_p.S112R|CUL4A_ENST00000326335.4_Missense_Mutation_p.S112R|CUL4A_ENST00000375440.4_Missense_Mutation_p.S212R	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	212					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGTGGACCGGAGCCTGTTGCG	0.542													13	41	---	---	---	---	0	0
LAIR1	3903	broad.mit.edu	37	19	54872560	54872560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:54872560C>T	ENST00000391743.3	-	2	553	c.273G>A	c.(271-273)tgG>tgA	p.W91*	LAIR1_ENST00000434277.2_Nonsense_Mutation_p.W108*|LAIR1_ENST00000391742.2_Nonsense_Mutation_p.W109*|LAIR1_ENST00000313038.6_Nonsense_Mutation_p.W102*|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.W108*|LAIR1_ENST00000348231.4_Nonsense_Mutation_p.W109*			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	109	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCTGCTCAGACCATTTAGGGG	0.557													32	95	---	---	---	---	0	0
NLRP9	338321	broad.mit.edu	37	19	56223890	56223890	+	Silent	SNP	C	C	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:56223890C>A	ENST00000332836.2	-	7	2595	c.2568G>T	c.(2566-2568)ggG>ggT	p.G856G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	856						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTTCAGTTTCCCATTGCAAA	0.448													10	25	---	---	---	---	0	0
DIDO1	11083	broad.mit.edu	37	20	61541166	61541166	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr20:61541166T>C	ENST00000266070.4	-	4	1371	c.1046A>G	c.(1045-1047)gAt>gGt	p.D349G	DIDO1_ENST00000370368.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D349G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D349G|DIDO1_ENST00000354665.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370371.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D349G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	349					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTTGTACAATCGGTGCCATC	0.463													30	68	---	---	---	---	0	0
ALAS2	212	broad.mit.edu	37	X	55039950	55039950	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chrX:55039950G>T	ENST00000330807.5	-	10	1706	c.1569C>A	c.(1567-1569)caC>caA	p.H523Q	ALAS2_ENST00000498636.1_Intron|ALAS2_ENST00000396198.3_Missense_Mutation_p.H510Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H486Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	523					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGGGCTGTGGTGGGGGGAGG	0.572													12	7	---	---	---	---	0	0
TCHH	7062	broad.mit.edu	37	1	152081869	152081869	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:152081869T>G	ENST00000368804.1	-	2	3823	c.3824A>C	c.(3823-3825)cAa>cCa	p.Q1275P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1275					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTCGCTCTTGCTGTTCACC	0.557													4	74	---	---	---	---	0	0
ADCY10	55811	broad.mit.edu	37	1	167871270	167871270	+	Silent	SNP	G	G	A			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:167871270G>A	ENST00000367851.4	-	4	460	c.276C>T	c.(274-276)gaC>gaT	p.D92D	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_5'UTR	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	92	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATTTCAGGATGTCTCCTCCAA	0.393													40	205	---	---	---	---	0	0
DHX30	22907	broad.mit.edu	37	3	47889987	47889987	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr3:47889987A>T	ENST00000446256.2	+	17	2977	c.2405A>T	c.(2404-2406)gAc>gTc	p.D802V	DHX30_ENST00000348968.4_Missense_Mutation_p.D813V|DHX30_ENST00000445061.1_Missense_Mutation_p.D841V|DHX30_ENST00000457607.1_Missense_Mutation_p.D869V	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	841	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGGCTGTGGACAGTCCAAAC	0.657													18	95	---	---	---	---	0	0
S100Z	170591	broad.mit.edu	37	5	76171233	76171233	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr5:76171233C>T	ENST00000317593.4	+	3	281	c.49C>T	c.(49-51)Cac>Tac	p.H17Y	S100Z_ENST00000513010.1_Missense_Mutation_p.H17Y	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	17	EF-hand 1.						calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		TAGAATCTTCCACCGCTATTC	0.552													3	30	---	---	---	---	0	0
ADTRP	84830	broad.mit.edu	37	6	11714718	11714718	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr6:11714718C>T	ENST00000414691.3	-	6	1096	c.686G>A	c.(685-687)aGg>aAg	p.R229K	ADTRP_ENST00000229583.5_Missense_Mutation_p.R247K|ADTRP_ENST00000514824.1_5'UTR	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	229						integral to membrane											CAATTACTTCCTCTTCTTCCG	0.428													3	63	---	---	---	---	0	0
KIAA1586	57691	broad.mit.edu	37	6	56917924	56917924	+	Silent	SNP	A	A	G			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr6:56917924A>G	ENST00000370733.4	+	4	834	c.627A>G	c.(625-627)gaA>gaG	p.E209E	KIAA1586_ENST00000545356.1_Silent_p.E182E	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	209							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAATTAGGGAACATGATGTTT	0.313													16	41	---	---	---	---	0	0
SLC25A51	92014	broad.mit.edu	37	9	37888547	37888547	+	Translation_Start_Site	SNP	T	T	C			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr9:37888547T>C	ENST00000377716.2	-	3	744	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SLC25A51_ENST00000380590.3_Start_Codon_SNP_p.M1V|SLC25A51_ENST00000242275.6_Start_Codon_SNP_p.M1V|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000496760.1_Intron			Q9H1U9	MCAR1_HUMAN	solute carrier family 25, member 51	1					transport	integral to membrane|mitochondrial inner membrane											GAATCCATCATGCTGCTTAAG	0.348													26	90	---	---	---	---	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36064859	36064859	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr14:36064859T>C	ENST00000258840.6	-	37	6203	c.5813A>G	c.(5812-5814)gAt>gGt	p.D1938G	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904G	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1891	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAAGAATCATCAGAATCAGA	0.338													20	104	---	---	---	---	0	0
TRPM7	54822	broad.mit.edu	37	15	50920444	50920444	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr15:50920444T>C	ENST00000313478.7	-	11	1488	c.1207A>G	c.(1207-1209)Act>Gct	p.T403A	TRPM7_ENST00000560955.1_Missense_Mutation_p.T403A	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	403					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GATGCATTAGTACCTAATCGA	0.353													19	123	---	---	---	---	0	0
CYSLTR1	0	broad.mit.edu	37	X	77529210	77529210	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chrX:77529210C>A	ENST00000373304.3	-	3	326	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	12					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TGGCATGTGGCAGAAGATACT	0.378													4	73	---	---	---	---	0	0
RPL11	6135	broad.mit.edu	37	1	24020353	24020353	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:24020353T>C	ENST00000374550.3	+	3	259	c.214T>C	c.(214-216)Tgc>Cgc	p.C72R	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	72					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		TGCTGTCCACTGCACAGTTCG	0.478													15	19	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158648191	158648191	+	Splice_Site	SNP	C	C	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:158648191C>A	ENST00000368147.4	-	6	992	c.812G>T	c.(811-813)aGg>aTg	p.R271M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGATCCATACCTTTTGAATCG	0.423													4	72	---	---	---	---	0	0
C4orf17	84103	broad.mit.edu	37	4	100434271	100434271	+	Silent	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr4:100434271G>A	ENST00000514652.1	+	2	387	c.33G>A	c.(31-33)caG>caA	p.Q11Q	C4orf17_ENST00000326581.4_Silent_p.Q11Q			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	11										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CTGCTCTTCAGATCGAGGGCA	0.463													8	51	---	---	---	---	0	0
PROP1	5626	broad.mit.edu	37	5	177419968	177419968	+	Silent	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr5:177419968G>A	ENST00000308304.2	-	3	731	c.423C>T	c.(421-423)gcC>gcT	p.A141A		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	141					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAAAAGGCGGCAGGAGACA	0.587													3	14	---	---	---	---	0	0
C6orf165	154313	broad.mit.edu	37	6	88120351	88120351	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr6:88120351A>G	ENST00000507897.1	+	3	240	c.157A>G	c.(157-159)Acc>Gcc	p.T53A	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T53A			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	53										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CATGGATAGAACCCTCATGAA	0.353													3	44	---	---	---	---	0	0
PON2	5445	broad.mit.edu	37	7	95039375	95039375	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr7:95039375T>C	ENST00000536183.1	-	6	779	c.596A>G	c.(595-597)tAt>tGt	p.Y199C	PON2_ENST00000222572.3_Missense_Mutation_p.Y178C|PON2_ENST00000433091.2_Missense_Mutation_p.Y166C|PON2_ENST00000483292.1_5'UTR	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	178					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			ATTTGTGGCATAGAAATGTGC	0.368													16	21	---	---	---	---	0	0
CCDC171	203238	broad.mit.edu	37	9	15678826	15678826	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr9:15678826A>G	ENST00000380701.3	+	10	1475	c.1147A>G	c.(1147-1149)Ata>Gta	p.I383V	CCDC171_ENST00000297641.3_Missense_Mutation_p.I383V	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	383																	GAAAGTAATTATAGACCTTTC	0.313													6	37	---	---	---	---	0	0
RALGPS1	9649	broad.mit.edu	37	9	129977092	129977092	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr9:129977092G>T	ENST00000259351.5	+	18	1882	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.D497Y|RALGPS1_ENST00000373434.1_Missense_Mutation_p.D489Y	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	539	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAAGCATTTGGATGATGCATG	0.438											OREG0019504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	54	---	---	---	---	0	0
GRIA4	0	broad.mit.edu	37	11	105623908	105623908	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr11:105623908A>G	ENST00000393127.2	+	4	895	c.449A>G	c.(448-450)gAa>gGa	p.E150G	GRIA4_ENST00000428631.2_Missense_Mutation_p.E150G|GRIA4_ENST00000393125.2_Missense_Mutation_p.E150G|GRIA4_ENST00000525187.1_Missense_Mutation_p.E150G|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150G|GRIA4_ENST00000530497.1_Missense_Mutation_p.E150G	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	150					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GATCACTACGAATGGAACTGT	0.438													9	76	---	---	---	---	0	0
ZNF770	54989	broad.mit.edu	37	15	35273990	35273990	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr15:35273990G>A	ENST00000356321.4	-	3	1990	c.1646C>T	c.(1645-1647)tCa>tTa	p.S549L		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTATTACCTGAATGATTAGA	0.368													8	96	---	---	---	---	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10575982	10575982	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr16:10575982C>T	ENST00000396560.2	+	12	2152	c.1925C>T	c.(1924-1926)aCt>aTt	p.T642I	ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000396559.1_3'UTR|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.T642I|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.T186I	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	642	Fibronectin type-III.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						ATGGCCTGTACTTTATCTCAG	0.358													49	80	---	---	---	---	0	0
SLC38A7	55238	broad.mit.edu	37	16	58713793	58713793	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr16:58713793C>T	ENST00000570101.1	-	2	1121	c.238G>A	c.(238-240)Ggg>Agg	p.G80R	SLC38A7_ENST00000219320.4_Missense_Mutation_p.G80R|SLC38A7_ENST00000564391.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	80					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GCCACGCCCCCCGCAGTGCTG	0.622													8	10	---	---	---	---	0	0
ZNF468	90333	broad.mit.edu	37	19	53343985	53343985	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr19:53343985T>G	ENST00000595646.1	-	4	1682	c.1562A>C	c.(1561-1563)aAg>aCg	p.K521T	ZNF468_ENST00000396409.4_Missense_Mutation_p.K468T|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.K468T			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CTATTAAGGCTTCTCTCCACT	0.413													31	79	---	---	---	---	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670163	44670163	+	Silent	SNP	C	C	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:44670163C>A	ENST00000243964.3	+	8	1148	c.1050C>A	c.(1048-1050)gcC>gcA	p.A350A	SLC12A5_ENST00000454036.2_Silent_p.A373A	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	373					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGTGCTGCCAGTGGCCTCA	0.567													20	41	---	---	---	---	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887616	47887616	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:47887616T>G	ENST00000396105.1	-	3	979	c.733A>C	c.(733-735)Agc>Cgc	p.S245R	ZNFX1_ENST00000371752.1_Missense_Mutation_p.S245R|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S245R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	245							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATGATGTTGCTTATGTGCTCT	0.493													4	52	---	---	---	---	0	0
OPRL1	4987	broad.mit.edu	37	20	62730046	62730046	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr20:62730046C>T	ENST00000349451.3	+	6	1419	c.1007C>T	c.(1006-1008)gCa>gTa	p.A336V	OPRL1_ENST00000336866.2_Missense_Mutation_p.A336V|OPRL1_ENST00000355631.4_Missense_Mutation_p.A336V	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	336					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTCTGCTGTGCATCTGCCCTG	0.637													14	30	---	---	---	---	0	0
CPT1B	1375	broad.mit.edu	37	22	51009403	51009403	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr22:51009403T>C	ENST00000360719.2	-	16	2082	c.1945A>G	c.(1945-1947)Acc>Gcc	p.T649A	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.T444A|CPT1B_ENST00000395650.2_Missense_Mutation_p.T649A|CPT1B_ENST00000457250.1_Missense_Mutation_p.T615A|CPT1B_ENST00000440709.1_Missense_Mutation_p.T568A|CPT1B_ENST00000405237.3_Missense_Mutation_p.T649A|CPT1B_ENST00000312108.7_Missense_Mutation_p.T649A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	649					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCTGCCCCGGTCATGGCCAGG	0.547													4	156	---	---	---	---	0	0
CXorf38	159013	broad.mit.edu	37	X	40506743	40506743	+	Silent	SNP	G	G	A			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chrX:40506743G>A	ENST00000327877.5	-	1	56	c.30C>T	c.(28-30)ctC>ctT	p.L10L	CXorf38_ENST00000378418.2_Silent_p.L10L|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Silent_p.L10L	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	10										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CGGCGCAGTTGAGGCGCGCCG	0.672													13	7	---	---	---	---	0	0
MACF1	23499	broad.mit.edu	37	1	39853372	39853372	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:39853372A>G	ENST00000564288.1	+	58	15635	c.14858A>G	c.(14857-14859)gAg>gGg	p.E4953G	MACF1_ENST00000317713.7_Missense_Mutation_p.E2891G|MACF1_ENST00000567887.1_Missense_Mutation_p.E4990G|MACF1_ENST00000289893.4_Missense_Mutation_p.E3393G|MACF1_ENST00000545844.1_Missense_Mutation_p.E2891G|MACF1_ENST00000361689.2_Missense_Mutation_p.E2891G|MACF1_ENST00000372915.3_Missense_Mutation_p.E4958G|MACF1_ENST00000539005.1_Missense_Mutation_p.E2870G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4958					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATGAGGTGGAGAAGCGCCGC	0.483													7	24	---	---	---	---	0	0
DOCK7	85440	broad.mit.edu	37	1	63027353	63027353	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:63027353A>T	ENST00000251157.5	-	19	2167	c.2134T>A	c.(2134-2136)Tgg>Agg	p.W712R	DOCK7_ENST00000340370.5_Missense_Mutation_p.W712R	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	712	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTATCTACCCATTTCATGCCA	0.289													14	59	---	---	---	---	0	0
DEPDC1	55635	broad.mit.edu	37	1	68947142	68947142	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:68947142G>A	ENST00000456315.2	-	9	2030	c.1916C>T	c.(1915-1917)gCa>gTa	p.A639V	DEPDC1_ENST00000370966.5_Missense_Mutation_p.A355V|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	639	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CGTACCCATTGCATCATGAAG	0.353													3	55	---	---	---	---	0	0
ZRANB3	84083	broad.mit.edu	37	2	135965348	135965348	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr2:135965348C>A	ENST00000401392.1	-	19	2871	c.2659G>T	c.(2659-2661)Gat>Tat	p.D887Y	ZRANB3_ENST00000536680.1_Missense_Mutation_p.D887Y|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.D889Y			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	889						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ACAGTGAGATCTGCCTGGACT	0.423													4	47	---	---	---	---	0	0
VGLL3	389136	broad.mit.edu	37	3	87018025	87018025	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr3:87018025A>G	ENST00000398399.2	-	3	1015	c.652T>C	c.(652-654)Tcc>Ccc	p.S218P	VGLL3_ENST00000383698.3_Missense_Mutation_p.S218P	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGGCTGTAGGATGGGCTCACC	0.607													8	48	---	---	---	---	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65322164	65322164	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr5:65322164T>C	ENST00000284037.5	+	13	1444	c.1055T>C	c.(1054-1056)cTc>cCc	p.L352P	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L352P	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	352					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GTGCTGTTTCTCCATTCCAAT	0.303													12	46	---	---	---	---	0	0
PCDHGA3	0	broad.mit.edu	37	5	140723618	140723618	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr5:140723618T>A	ENST00000253812.6	+	1	18	c.18T>A	c.(16-18)agT>agA	p.S6R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCTGAGTTTCCGAAATG	0.522											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	86	---	---	---	---	0	0
HCRTR2	3062	broad.mit.edu	37	6	55120018	55120018	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr6:55120018A>G	ENST00000370862.3	+	3	823	c.487A>G	c.(487-489)Aag>Gag	p.K163E		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	163					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTGATGTTTAAGAGCACAGC	0.493													9	51	---	---	---	---	0	0
AMD1	262	broad.mit.edu	37	6	111210071	111210071	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr6:111210071T>G	ENST00000368885.3	+	3	545	c.209T>G	c.(208-210)aTg>aGg	p.M70R	AMD1_ENST00000368876.1_Start_Codon_SNP_p.M1R|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.M41R|AMD1_ENST00000451850.2_Intron	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	70					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GAGAGTAGCATGTTTGTCTCC	0.388													18	57	---	---	---	---	0	0
SHPRH	257218	broad.mit.edu	37	6	146242326	146242326	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr6:146242326C>T	ENST00000367503.3	-	21	4395	c.3997G>A	c.(3997-3999)Gaa>Aaa	p.E1333K	SHPRH_ENST00000275233.7_Missense_Mutation_p.E1329K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E1333K|SHPRH_ENST00000367505.2_Missense_Mutation_p.E1329K	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1329					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCCATGCTTCAAAGAGATCC	0.303													4	17	---	---	---	---	0	0
POM121L12	285877	broad.mit.edu	37	7	53103908	53103908	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr7:53103908C>A	ENST00000408890.4	+	1	560	c.544C>A	c.(544-546)Ctc>Atc	p.L182I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	182										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCTGGGGGCGCTCAGCCAGTG	0.721													9	23	---	---	---	---	0	0
MAGI2	9863	broad.mit.edu	37	7	79082369	79082369	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr7:79082369T>C	ENST00000354212.4	-	1	521	c.268A>G	c.(268-270)Aag>Gag	p.K90E	MAGI2_ENST00000419488.1_Missense_Mutation_p.K90E|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.K90E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	90	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGGGGTCCTTGCAGTGTTTG	0.637													9	49	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113267582	113267582	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr8:113267582C>A	ENST00000297405.5	-	62	10181	c.9937G>T	c.(9937-9939)Gtt>Ttt	p.V3313F	CSMD3_ENST00000455883.2_Missense_Mutation_p.V3144F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3243F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3273F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3313	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGAATGAAACCTCTGACTGG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	36	---	---	---	---	0	0
DSCC1	79075	broad.mit.edu	37	8	120865380	120865380	+	Silent	SNP	T	T	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr8:120865380T>C	ENST00000313655.4	-	2	472	c.258A>G	c.(256-258)gcA>gcG	p.A86A		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	86					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGAAGTGTCTGCTATCTTCA	0.408													13	92	---	---	---	---	0	0
GPR107	0	broad.mit.edu	37	9	132853235	132853235	+	Silent	SNP	A	A	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr9:132853235A>C	ENST00000372406.1	+	8	1209	c.702A>C	c.(700-702)ccA>ccC	p.P234P	GPR107_ENST00000372410.3_Silent_p.P234P|GPR107_ENST00000347136.6_Silent_p.P234P	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	234						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AAGAATTGCCAAGTGACAAGT	0.358													7	30	---	---	---	---	0	0
C9orf139	401563	broad.mit.edu	37	9	139929144	139929144	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr9:139929144C>A	ENST00000314330.2	+	3	1725	c.211C>A	c.(211-213)Cgc>Agc	p.R71S		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	71										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TGTCCTGCCACGCCTGCGGGT	0.657													21	67	---	---	---	---	0	0
NEBL	10529	broad.mit.edu	37	10	21169734	21169734	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr10:21169734G>A	ENST00000377122.4	-	5	865	c.469C>T	c.(469-471)Cac>Tac	p.H157Y	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.H157Y|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	157					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTACTCTGGTGTTTATTGACC	0.403													7	59	---	---	---	---	0	0
C10orf11	83938	broad.mit.edu	37	10	77806998	77806998	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr10:77806998A>C	ENST00000372499.1	+	3	466	c.251A>C	c.(250-252)aAc>aCc	p.N84T	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	84										endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CTGCTGGGCAACGTGGCCTGT	0.517													9	55	---	---	---	---	0	0
MMP26	56547	broad.mit.edu	37	11	5013446	5013446	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:5013446G>C	ENST00000380390.1	+	7	976	c.760G>C	c.(760-762)Gaa>Caa	p.E254Q	MMP26_ENST00000300762.1_Missense_Mutation_p.E254Q			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	254					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCCATAGGAGAAAAATGTTC	0.383													8	35	---	---	---	---	0	0
PRMT3	10196	broad.mit.edu	37	11	20424497	20424497	+	Silent	SNP	C	C	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:20424497C>T	ENST00000331079.6	+	8	955	c.738C>T	c.(736-738)ttC>ttT	p.F246F	PRMT3_ENST00000437750.2_Silent_p.F184F	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	246							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ACCGAGATTTCATATACCAAA	0.353													24	53	---	---	---	---	0	0
MALAT1	0	broad.mit.edu	37	11	65271416	65271416	+	RNA	SNP	T	T	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:65271416T>G	ENST00000534336.1	+	0	6184					NR_002819.2																						ATTACACATTTTATTTCCAGA	0.333													5	11	---	---	---	---	0	0
TCIRG1	10312	broad.mit.edu	37	11	67818000	67818000	+	Silent	SNP	C	C	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:67818000C>T	ENST00000265686.3	+	19	2391	c.2283C>T	c.(2281-2283)ggC>ggT	p.G761G	TCIRG1_ENST00000532635.1_Silent_p.G545G|TCIRG1_ENST00000530802.1_Intron	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	761					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TAGGCCTGGGCCTGGGCCGGG	0.657													17	126	---	---	---	---	0	0
PHLDB1	23187	broad.mit.edu	37	11	118514553	118514553	+	Silent	SNP	C	C	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:118514553C>T	ENST00000361417.2	+	15	3324	c.2913C>T	c.(2911-2913)agC>agT	p.S971S	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.S7S|PHLDB1_ENST00000356063.5_Silent_p.S924S|PHLDB1_ENST00000524713.1_Silent_p.S114S	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	971										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGGCCACCAGCCCCCTTCCCC	0.662													13	26	---	---	---	---	0	0
KIAA1467	57613	broad.mit.edu	37	12	13215818	13215818	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:13215818A>C	ENST00000197268.8	+	5	881	c.761A>C	c.(760-762)aAc>aCc	p.N254T		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	254						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TACTTGTCCAACGGTACCTTG	0.493													5	143	---	---	---	---	0	0
TMTC3	160418	broad.mit.edu	37	12	88560143	88560143	+	Silent	SNP	A	A	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:88560143A>G	ENST00000266712.6	+	7	1054	c.834A>G	c.(832-834)acA>acG	p.T278T		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	278						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAACTCCTACAAGGCAACTAA	0.348													4	56	---	---	---	---	0	0
CIT	11113	broad.mit.edu	37	12	120288024	120288024	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:120288024A>T	ENST00000392521.2	-	5	525	c.470T>A	c.(469-471)aTc>aAc	p.I157N	CIT_ENST00000261833.7_Missense_Mutation_p.I157N	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	157	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TAATTGGGGGATCCACGGGCT	0.408													6	176	---	---	---	---	0	0
SALL1	6299	broad.mit.edu	37	16	51174514	51174514	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr16:51174514C>T	ENST00000440970.1	-	2	1759	c.1328G>A	c.(1327-1329)aGc>aAc	p.S443N	SALL1_ENST00000251020.4_Missense_Mutation_p.S540N|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	540					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTCTAGCCAGCTGGTGACTGG	0.557													11	31	---	---	---	---	0	0
ACTG1	71	broad.mit.edu	37	17	79479005	79479005	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr17:79479005A>T	ENST00000575842.1	-	2	713	c.287T>A	c.(286-288)gTg>gAg	p.V96E	ACTG1_ENST00000573283.1_Missense_Mutation_p.V96E|ACTG1_ENST00000331925.2_Missense_Mutation_p.V96E|ACTG1_ENST00000575087.1_Missense_Mutation_p.V96E			P63261	ACTG_HUMAN	actin, gamma 1	96					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTCCGGGGCCACGCGCAGCTC	0.627													9	33	---	---	---	---	0	0
DSEL	92126	broad.mit.edu	37	18	65180992	65180992	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr18:65180992T>G	ENST00000310045.7	-	2	2357	c.884A>C	c.(883-885)aAa>aCa	p.K295T	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	285						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGTGACGGATTTAGCTGTGTA	0.398													4	76	---	---	---	---	0	0
ZNF816	125893	broad.mit.edu	37	19	53453374	53453374	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr19:53453374G>A	ENST00000357666.4	-	5	1954	c.1654C>T	c.(1654-1656)Ctt>Ttt	p.L552F	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.L552F	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TGGTTTGCAAGGCATGAATCA	0.403													14	88	---	---	---	---	0	0
MMP9	4318	broad.mit.edu	37	20	44644994	44644994	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr20:44644994G>T	ENST00000372330.3	+	13	2130	c.2111G>T	c.(2110-2112)tGc>tTc	p.C704F	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	704	Hemopexin-like 4.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	ATCCTGCAGTGCCCTGAGGAC	0.582													9	33	---	---	---	---	0	0
NCOA5	57727	broad.mit.edu	37	20	44693760	44693760	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr20:44693760C>T	ENST00000290231.6	-	6	901	c.737G>A	c.(736-738)aGc>aAc	p.S246N		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ACCTCCCCTGCTAACATCCTC	0.527													21	75	---	---	---	---	0	0
DONSON	29980	broad.mit.edu	37	21	34951736	34951736	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr21:34951736A>G	ENST00000303071.5	-	9	1549	c.1483T>C	c.(1483-1485)Tct>Cct	p.S495P	DONSON_ENST00000453626.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.S481P|DONSON_ENST00000432378.1_Intron	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	495					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GCAGAGAAAGATCCACTCTGT	0.428													43	82	---	---	---	---	0	0
IGLV1-47	0	broad.mit.edu	37	22	22712528	22712528	+	RNA	SNP	G	G	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr22:22712528G>C	ENST00000390294.2	+	0	327																											TGGCACCTCAGCCTCCCTGGC	0.597													53	87	---	---	---	---	0	0
IL17REL	400935	broad.mit.edu	37	22	50437763	50437763	+	Silent	SNP	C	C	T	rs148168797		TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr22:50437763C>T	ENST00000389983.2	-	9	822	c.558G>A	c.(556-558)gcG>gcA	p.A186A	IL17REL_ENST00000341280.5_Silent_p.A186A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	186										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCAGGGGTCGCAGACCAGC	0.677													10	61	---	---	---	---	0	0
MTOR	2475	broad.mit.edu	37	1	11189830	11189830	+	Silent	SNP	G	G	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:11189830G>C	ENST00000361445.4	-	40	5755	c.5679C>G	c.(5677-5679)tcC>tcG	p.S1893S	MTOR_ENST00000376838.1_Silent_p.S98S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1893	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTCGTGACAAGGAGATGGAAC	0.522													7	15	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228481946	228481946	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:228481946C>T	ENST00000570156.2	+	47	12586	c.12512C>T	c.(12511-12513)cCg>cTg	p.P4171L	OBSCN_ENST00000284548.11_Missense_Mutation_p.P3742L|OBSCN_ENST00000359599.6_Missense_Mutation_p.P2589L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P861L|OBSCN_ENST00000422127.1_Missense_Mutation_p.P3742L|OBSCN_ENST00000366707.4_Missense_Mutation_p.P861L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3214	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGGCGGCACCGGTGGAGTGG	0.622													71	92	---	---	---	---	0	0
GIGYF2	26058	broad.mit.edu	37	2	233655742	233655742	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:233655742G>T	ENST00000373566.3	+	12	1218	c.1021G>T	c.(1021-1023)Gaa>Taa	p.E341*	GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.E150*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.E319*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.E319*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.E313*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	319					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCCTATTCCAGAAGAGCAGGA	0.448													11	20	---	---	---	---	0	0
DGKD	8527	broad.mit.edu	37	2	234368918	234368918	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:234368918C>T	ENST00000264057.2	+	24	2920	c.2908C>T	c.(2908-2910)Ccg>Tcg	p.P970S	DGKD_ENST00000409813.3_Missense_Mutation_p.P926S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	970					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTCCCTGCACCCGGAGATGCT	0.617													11	18	---	---	---	---	0	0
ITGA1	3672	broad.mit.edu	37	5	52211329	52211329	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr5:52211329A>T	ENST00000282588.6	+	15	2351	c.1893A>T	c.(1891-1893)aaA>aaT	p.K631N		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	631					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGACACTGAAATTTTTTGGCC	0.423													9	91	---	---	---	---	0	0
CD83	9308	broad.mit.edu	37	6	14131839	14131839	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr6:14131839C>A	ENST00000379153.3	+	3	413	c.242C>A	c.(241-243)tCt>tAt	p.S81Y		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	81	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				CAAAATGGTTCTTTCGACGCC	0.547													16	31	---	---	---	---	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34835110	34835110	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr6:34835110C>T	ENST00000192788.5	+	16	3692	c.3521C>T	c.(3520-3522)gCc>gTc	p.A1174V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A1174V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1174										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCACCAGCAGCCAACAGTTCA	0.507													8	65	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100678493	100678493	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr7:100678493A>T	ENST00000306151.4	+	3	3860	c.3796A>T	c.(3796-3798)Acc>Tcc	p.T1266S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1266	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CGCTGAAGGTACCAGCTTGCC	0.507													112	311	---	---	---	---	0	0
CRYGN	155051	broad.mit.edu	37	7	151135077	151135077	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr7:151135077C>T	ENST00000491928.1	-	2	365	c.275G>A	c.(274-276)aGt>aAt	p.S92N	CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000337323.2_Intron|RP4-555L14.4_ENST00000465549.1_RNA			Q8WXF5	CRGN_HUMAN	crystallin, gamma N	0										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACGGGCCCACTCACCATTCC	0.637													15	9	---	---	---	---	0	0
C9orf85	138241	broad.mit.edu	37	9	74587611	74587611	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr9:74587611G>T	ENST00000334731.2	+	4	517	c.327G>T	c.(325-327)ttG>ttT	p.L109F	C9orf85_ENST00000486911.2_Intron|C9orf85_ENST00000377031.3_Intron	NM_182505.3	NP_872311.2	Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	0										kidney(2)|large_intestine(1)|lung(4)	7						TCTTTAGGTTGAATAAAGAAA	0.284													3	52	---	---	---	---	0	0
SLC27A4	10999	broad.mit.edu	37	9	131112789	131112789	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr9:131112789A>G	ENST00000300456.4	+	6	929	c.812A>G	c.(811-813)tAc>tGc	p.Y271C	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4						long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCCCTGGTGTACTATGGATTC	0.617													10	16	---	---	---	---	0	0
SIRT1	23411	broad.mit.edu	37	10	69666644	69666644	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr10:69666644T>A	ENST00000212015.6	+	5	1093	c.1040T>A	c.(1039-1041)aTa>aAa	p.I347K	SIRT1_ENST00000432464.1_Missense_Mutation_p.I52K|SIRT1_ENST00000406900.1_Missense_Mutation_p.I44K|SIRT1_ENST00000403579.1_Missense_Mutation_p.I44K	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	347	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ACCCAGAACATAGACACGCTG	0.388													13	21	---	---	---	---	0	0
OR4C11	219429	broad.mit.edu	37	11	55371422	55371422	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr11:55371422A>T	ENST00000302231.4	-	1	452	c.428T>A	c.(427-429)aTt>aAt	p.I143N		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGCAAGAACAATCAGGATGAT	0.453													4	52	---	---	---	---	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132469	59132469	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr11:59132469T>G	ENST00000313940.2	+	1	585	c.538T>G	c.(538-540)Tgt>Ggt	p.C180G		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ACATTTCTTCTGTGACATGCC	0.438													4	180	---	---	---	---	0	0
ATF7IP	55729	broad.mit.edu	37	12	14589075	14589075	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr12:14589075G>A	ENST00000544627.1	+	4	2025	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	ATF7IP_ENST00000543189.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D561N|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D561N			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	561	Glu-rich.|Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAAATCAGAAGACATGGACAA	0.353													71	31	---	---	---	---	0	0
ATF7IP	55729	broad.mit.edu	37	12	14589162	14589162	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr12:14589162G>C	ENST00000544627.1	+	4	2112	c.1792G>C	c.(1792-1794)Gac>Cac	p.D598H	ATF7IP_ENST00000543189.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D590H|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D590H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	590	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGCCAAAGGAGACATTAACCA	0.323													101	59	---	---	---	---	0	0
KRT79	338785	broad.mit.edu	37	12	53217008	53217008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr12:53217008G>A	ENST00000330553.5	-	7	1193	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	387	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGGCCGTCTGCAGCTGCTGA	0.597													6	12	---	---	---	---	0	0
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""								20	10	---	---	---	---	0	0
TTBK2	146057	broad.mit.edu	37	15	43038000	43038000	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:43038000C>T	ENST00000267890.6	-	15	3836	c.3728G>A	c.(3727-3729)aGc>aAc	p.S1243N		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1243					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTCCTATCTGCTGAGTTTACT	0.493													29	56	---	---	---	---	0	0
STRC	161497	broad.mit.edu	37	15	43901532	43901532	+	Splice_Site	SNP	C	C	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:43901532C>A	ENST00000450892.2	-	16	3576	c.3499G>T	c.(3499-3501)Gca>Tca	p.A1167S	STRC_ENST00000541030.1_Splice_Site_p.A394S	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1167					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGAAACTGTGCCTACAAGAGA	0.522													4	68	---	---	---	---	0	0
SLC28A1	9154	broad.mit.edu	37	15	85461836	85461836	+	Splice_Site	SNP	G	G	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:85461836G>T	ENST00000394573.1	+	10	1078		c.e10+1		SLC28A1_ENST00000537703.1_Splice_Site|SLC28A1_ENST00000538177.1_Splice_Site|SLC28A1_ENST00000537216.1_Splice_Site|SLC28A1_ENST00000286749.3_Splice_Site|SLC28A1_ENST00000537624.1_Splice_Site	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATCCTGAAGGTAAGTTCCCA	0.562													26	34	---	---	---	---	0	0
ITGAL	0	broad.mit.edu	37	16	30500700	30500700	+	Silent	SNP	C	C	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr16:30500700C>A	ENST00000356798.6	+	11	1386	c.1206C>A	c.(1204-1206)ggC>ggA	p.G402G	ITGAL_ENST00000358164.5_Silent_p.G319G|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	402					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGAGAGCAGGCTATTTGGGTG	0.488													7	31	---	---	---	---	0	0
TYMS	7298	broad.mit.edu	37	18	670815	670815	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr18:670815T>A	ENST00000323274.10	+	5	819	c.680T>A	c.(679-681)aTc>aAc	p.I227N	TYMS_ENST00000323224.7_Missense_Mutation_p.I193N|TYMS_ENST00000323250.5_Missense_Mutation_p.I144N|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	227					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CCTTTCAACATCGCCAGCTAC	0.592													38	31	---	---	---	---	0	0
MAN2B1	4125	broad.mit.edu	37	19	12769127	12769127	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr19:12769127C>T	ENST00000456935.2	-	9	1181	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A380T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	381					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCCATCCGCGTAAGGGAAG	0.617													21	45	---	---	---	---	0	0
NLRP13	126204	broad.mit.edu	37	19	56421986	56421986	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr19:56421986G>A	ENST00000588751.1	-	6	2249	c.2225C>T	c.(2224-2226)tCt>tTt	p.S742F	NLRP13_ENST00000342929.3_Missense_Mutation_p.S742F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	742							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACCCTTCACAGAGGAAGCATG	0.468													8	111	---	---	---	---	0	0
SLC23A2	9962	broad.mit.edu	37	20	4880337	4880337	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr20:4880337C>T	ENST00000379333.1	-	6	738	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	SLC23A2_ENST00000424750.2_Missense_Mutation_p.G116S|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G116S|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	116					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCGATCGTGCCGCTGAAGCAT	0.522													35	39	---	---	---	---	0	0
STAU1	6780	broad.mit.edu	37	20	47734393	47734393	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr20:47734393G>C	ENST00000371828.3	-	11	1692	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C	STAU1_ENST00000371856.2_Missense_Mutation_p.S477C|STAU1_ENST00000360426.4_Missense_Mutation_p.S396C|STAU1_ENST00000371802.1_Missense_Mutation_p.S402C|STAU1_ENST00000340954.7_Missense_Mutation_p.S396C|STAU1_ENST00000347458.5_Missense_Mutation_p.S396C|STAU1_ENST00000371792.1_Missense_Mutation_p.S394C	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	477						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTGGCCTGAAGAGATGTTATT	0.547													3	67	---	---	---	---	0	0
FANCB	2187	broad.mit.edu	37	X	14863074	14863074	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chrX:14863074T>C	ENST00000398334.1	-	8	2098	c.1831A>G	c.(1831-1833)Aaa>Gaa	p.K611E	FANCB_ENST00000324138.3_Missense_Mutation_p.K611E	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	611					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TAACGATCTTTAGGACAGTTA	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				74	12	---	---	---	---	0	0
STK39	27347	broad.mit.edu	37	2	169038559	169038559	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr2:169038559G>T	ENST00000355999.4	-	2	955	c.250C>A	c.(250-252)Ccc>Acc	p.P84T		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	84	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TCTTGCCTGGGTTTGCATAGG	0.448													10	55	---	---	---	---	0	0
TMEM40	55287	broad.mit.edu	37	3	12785418	12785418	+	Silent	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr3:12785418G>A	ENST00000314124.7	-	4	638	c.282C>T	c.(280-282)ccC>ccT	p.P94P	TMEM40_ENST00000264728.8_Silent_p.P94P|TMEM40_ENST00000431022.2_Silent_p.P110P|TMEM40_ENST00000435218.2_Intron|TMEM40_ENST00000435575.1_Intron	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	94						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CGTTCCCGTGGGGGTATCCAG	0.542													3	56	---	---	---	---	0	0
HTT	3064	broad.mit.edu	37	4	3205828	3205828	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr4:3205828A>G	ENST00000355072.5	+	42	5816	c.5671A>G	c.(5671-5673)Aga>Gga	p.R1891G		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1891					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AATGTGCAATAGAGAAATAGT	0.468													30	47	---	---	---	---	0	0
FBXO38	81545	broad.mit.edu	37	5	147781593	147781593	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr5:147781593T>C	ENST00000340253.5	+	4	479	c.311T>C	c.(310-312)gTt>gCt	p.V104A	FBXO38_ENST00000296701.6_Missense_Mutation_p.V104A|FBXO38_ENST00000394370.3_Missense_Mutation_p.V104A|FBXO38_ENST00000513826.1_Missense_Mutation_p.V104A|FBXO38_ENST00000509699.2_3'UTR			Q6PIJ6	FBX38_HUMAN	F-box protein 38	104	Interaction with KLF7 (By similarity).					cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCAGATGTTGAACAGCTA	0.438													20	79	---	---	---	---	0	0
NEDD9	4739	broad.mit.edu	37	6	11213711	11213711	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr6:11213711G>A	ENST00000379446.5	-	2	428	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Nonsense_Mutation_p.Q88*|NEDD9_ENST00000379433.5_Nonsense_Mutation_p.Q88*	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	88					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			AGCTTCTGTTGGCCAAAGGTC	0.557													3	71	---	---	---	---	0	0
CITED2	10370	broad.mit.edu	37	6	139694303	139694303	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr6:139694303A>T	ENST00000367651.2	-	2	994	c.779T>A	c.(778-780)gTg>gAg	p.V260E	CITED2_ENST00000537332.1_Missense_Mutation_p.V260E|CITED2_ENST00000536159.1_Missense_Mutation_p.V260E	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	260					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CTGTTTGCACACGAAGTCCGT	0.488													4	96	---	---	---	---	0	0
MAP3K4	4216	broad.mit.edu	37	6	161529848	161529848	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr6:161529848A>G	ENST00000392142.4	+	22	4341	c.4193A>G	c.(4192-4194)aAa>aGa	p.K1398R	MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1398	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAGGCATCAAACACCCCAAT	0.423													7	165	---	---	---	---	0	0
UNC5D	137970	broad.mit.edu	37	8	35406946	35406946	+	Silent	SNP	C	C	T			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr8:35406946C>T	ENST00000287272.2	+	2	260	c.240C>T	c.(238-240)gcC>gcT	p.A80A	UNC5D_ENST00000404895.2_Silent_p.A80A|UNC5D_ENST00000420357.1_Silent_p.A80A|UNC5D_ENST00000416672.1_Silent_p.A80A|UNC5D_ENST00000453357.2_Silent_p.A75A			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	80	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CGAGGCCAGCCATGCAGATAT	0.517													11	43	---	---	---	---	0	0
PDE7A	5150	broad.mit.edu	37	8	66701169	66701169	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr8:66701169A>C	ENST00000379419.4	-	1	150	c.8T>G	c.(7-9)aTt>aGt	p.I3S	PDE7A_ENST00000396642.3_Intron|PDE7A_ENST00000401827.3_Intron	NM_002603.3	NP_002594.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	0						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	GATCAATGTAATTCCCATTGG	0.418													38	87	---	---	---	---	0	0
UAP1L1	91373	broad.mit.edu	37	9	139975261	139975261	+	Silent	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr9:139975261G>A	ENST00000409858.3	+	7	1331	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	UAP1L1_ENST00000360271.3_Silent_p.R310R	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	433							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGCACTACCGGTGGGCTCTGC	0.687													10	33	---	---	---	---	0	0
RBP3	5949	broad.mit.edu	37	10	48388029	48388029	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr10:48388029T>C	ENST00000224600.4	-	1	2962	c.2849A>G	c.(2848-2850)gAt>gGt	p.D950G		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	950	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCATAGTTATCAGCCACCAG	0.627													20	38	---	---	---	---	0	0
CDH23	64072	broad.mit.edu	37	10	73326638	73326638	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr10:73326638T>A	ENST00000224721.6	+	6	589	c.584T>A	c.(583-585)aTc>aAc	p.I195N	CDH23_ENST00000398809.4_Missense_Mutation_p.I190N|CDH23_ENST00000461841.3_Missense_Mutation_p.I235N|CDH23_ENST00000398842.3_Missense_Mutation_p.I190N|CDH23_ENST00000299366.7_Missense_Mutation_p.I235N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	190	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCACAGTGATCCGGGAGCTG	0.652													5	36	---	---	---	---	0	0
TRPM5	29850	broad.mit.edu	37	11	2427341	2427341	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr11:2427341T>G	ENST00000533060.1	-	22	3261	c.3256A>C	c.(3256-3258)Acc>Ccc	p.T1086P	TRPM5_ENST00000528453.1_Intron|TRPM5_ENST00000155858.6_Intron|TRPM5_ENST00000452833.1_Intron|AC124057.5_ENST00000433035.1_RNA			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1083						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGCAGGTGGTCAGGCTGTGG	0.637													5	23	---	---	---	---	0	0
HBD	3045	broad.mit.edu	37	11	5255334	5255334	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr11:5255334C>T	ENST00000380299.3	-	2	416	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	HBD_ENST00000292901.3_Missense_Mutation_p.V68M	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	68					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACCTAGCACCTTCTTGCCA	0.542													4	102	---	---	---	---	0	0
NOX4	50507	broad.mit.edu	37	11	89070616	89070616	+	Splice_Site	SNP	T	T	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr11:89070616T>A	ENST00000535633.1	-	16	1752	c.1442A>T	c.(1441-1443)cAg>cTg	p.Q481L	NOX4_ENST00000343727.5_Splice_Site_p.Q481L|NOX4_ENST00000532825.1_Splice_Site_p.Q441L|NOX4_ENST00000534731.1_Splice_Site_p.Q465L|NOX4_ENST00000527956.1_Splice_Site_p.Q481L|NOX4_ENST00000531342.1_Splice_Site_p.Q158L|NOX4_ENST00000413594.2_Splice_Site_p.Q526L|NOX4_ENST00000375979.3_Splice_Site_p.Q198L|NOX4_ENST00000424319.1_Splice_Site_p.Q481L|NOX4_ENST00000525196.1_Splice_Site_p.Q269L|NOX4_ENST00000527626.1_Splice_Site_p.Q318L|NOX4_ENST00000542487.1_Splice_Site_p.Q481L|NOX4_ENST00000263317.4_Splice_Site_p.Q505L|NOX4_ENST00000528341.1_Splice_Site_p.Q480L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	505	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACCACATACCTGTATCCCATC	0.408													3	49	---	---	---	---	0	0
ACVRL1	94	broad.mit.edu	37	12	52306277	52306277	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr12:52306277A>G	ENST00000550683.1	+	1	162	c.61A>G	c.(61-63)Agg>Ggg	p.R21G	ACVRL1_ENST00000419526.2_Missense_Mutation_p.R21G|ACVRL1_ENST00000388922.4_Missense_Mutation_p.R7G	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	7					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGGCTCCCCCAGGAAAGGCCT	0.592													5	26	---	---	---	---	0	0
ADCY4	196883	broad.mit.edu	37	14	24791404	24791404	+	Silent	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr14:24791404G>A	ENST00000310677.4	-	21	2567	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F	ADCY4_ENST00000554068.2_Silent_p.F818F|ADCY4_ENST00000418030.2_Silent_p.F818F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	818					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCTTCCACAGGAAGTCCAGGC	0.617													6	107	---	---	---	---	0	0
KIAA0391	9692	broad.mit.edu	37	14	35592719	35592719	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr14:35592719G>A	ENST00000557565.1	+	2	649	c.268G>A	c.(268-270)Gct>Act	p.A90T	KIAA0391_ENST00000321130.10_Missense_Mutation_p.A90T|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Missense_Mutation_p.A90T|KIAA0391_ENST00000604948.1_5'UTR|KIAA0391_ENST00000534898.4_Missense_Mutation_p.A90T|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603588.1_Intron	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	90					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AGCTGGAGCAGCTAAGGAGAG	0.418													3	41	---	---	---	---	0	0
RYR3	6263	broad.mit.edu	37	15	34157424	34157424	+	Silent	SNP	A	A	C			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chr15:34157424A>C	ENST00000389232.4	+	104	14680	c.14610A>C	c.(14608-14610)ggA>ggC	p.G4870G	RYR3_ENST00000415757.3_Silent_p.G4865G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4870					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCAGCTTGGATAAATCTGAA	0.393													5	28	---	---	---	---	0	0
MXRA5	25878	broad.mit.edu	37	X	3240659	3240659	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8X3-01A-11D-A377-08	TCGA-V1-A8X3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cd7fc8-c912-417b-9d55-f0b4918823bb	e25c2cff-eb3c-4e65-8ecd-4e2bf1395062	g.chrX:3240659T>C	ENST00000217939.6	-	5	3221	c.3067A>G	c.(3067-3069)Ata>Gta	p.I1023V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1023						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTCCCCTATAGTAGAATCC	0.448													45	26	---	---	---	---	0	0
HFM1	164045	broad.mit.edu	37	1	91859787	91859787	+	Silent	SNP	G	G	A			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr1:91859787G>A	ENST00000370425.3	-	4	455	c.357C>T	c.(355-357)ggC>ggT	p.G119G	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	119							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATGTCAGCTTGCCAGCAATAT	0.343													8	70	---	---	---	---	0	0
GON4L	54856	broad.mit.edu	37	1	155732049	155732049	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr1:155732049C>T	ENST00000437809.1	-	23	4965	c.4843G>A	c.(4843-4845)Gac>Aac	p.D1615N	GON4L_ENST00000271883.5_Missense_Mutation_p.D1615N|GON4L_ENST00000368331.1_Missense_Mutation_p.D1615N	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1615					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCGAGAATGTCCTCATCATAC	0.552													3	25	---	---	---	---	0	0
TM4SF4	7104	broad.mit.edu	37	3	149192703	149192703	+	Silent	SNP	C	C	G			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr3:149192703C>G	ENST00000305354.4	+	1	943	c.39C>G	c.(37-39)acC>acG	p.T13T		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	13						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGGGGGGGACCCTCATTCCCC	0.527													3	36	---	---	---	---	0	0
PDS5A	23244	broad.mit.edu	37	4	39978175	39978175	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr4:39978175T>C	ENST00000303538.8	-	2	562	c.23A>G	c.(22-24)aAg>aGg	p.K8R	PDS5A_ENST00000503396.1_Missense_Mutation_p.K8R	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	8					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGTGGCAGGCTTGGGCTGCGC	0.587											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	68	---	---	---	---	0	0
HDAC3	8841	broad.mit.edu	37	5	141005259	141005259	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr5:141005259G>A	ENST00000305264.3	-	13	1131	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_Intron	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	351					anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GACCTGGCGTGAGTTCTGATT	0.498													7	43	---	---	---	---	0	0
GNL1	2794	broad.mit.edu	37	6	30515194	30515194	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr6:30515194G>A	ENST00000376621.3	-	9	2183	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	405	G.				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TTCACAGAGGGGGTAAGAAAG	0.562													21	197	---	---	---	---	0	0
C9orf9	11092	broad.mit.edu	37	9	135765348	135765348	+	Missense_Mutation	SNP	C	C	T	rs2231412		TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr9:135765348C>T	ENST00000350499.6	+	5	654	c.500C>T	c.(499-501)aCg>aTg	p.T167M	C9orf9_ENST00000356311.5_3'UTR|C9orf9_ENST00000372136.3_3'UTR	NM_018956.3	NP_061829.3	Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	0								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		TCACAGGGGACGACTTAGCTT	0.448													21	303	---	---	---	---	0	0
GLI1	2735	broad.mit.edu	37	12	57864213	57864213	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr12:57864213C>T	ENST00000228682.2	+	12	1781	c.1690C>T	c.(1690-1692)Cct>Tct	p.P564S	GLI1_ENST00000546141.1_Missense_Mutation_p.P523S|GLI1_ENST00000543426.1_Missense_Mutation_p.P436S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	564					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTGGCCTCTCCTTTCCCCCC	0.647													5	42	---	---	---	---	0	0
ZC3H13	23091	broad.mit.edu	37	13	46554093	46554093	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr13:46554093A>C	ENST00000242848.4	-	11	2115	c.1767T>G	c.(1765-1767)aaT>aaG	p.N589K	ZC3H13_ENST00000282007.3_Missense_Mutation_p.N589K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	589	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GATAGTTGCTATTACTACTGT	0.383													4	58	---	---	---	---	0	0
MGA	23269	broad.mit.edu	37	15	42003250	42003250	+	Nonsense_Mutation	SNP	C	C	G			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr15:42003250C>G	ENST00000219905.7	+	8	2968	c.2787C>G	c.(2785-2787)taC>taG	p.Y929*	MGA_ENST00000570161.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Y929*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Y929*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	929						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGCAGAAATACTCTCATGTGA	0.378													12	100	---	---	---	---	0	0
NMNAT1	64802	broad.mit.edu	37	1	10032159	10032159	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr1:10032159G>C	ENST00000377205.1	+	2	172	c.28G>C	c.(28-30)Gtt>Ctt	p.V10L	NMNAT1_ENST00000403197.1_Missense_Mutation_p.V10L|NMNAT1_ENST00000492735.1_3'UTR	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	10					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		GACTGAAGTGGTTCTCCTTGC	0.428													79	140	---	---	---	---	0	0
MROH9	80133	broad.mit.edu	37	1	170965648	170965648	+	Splice_Site	SNP	G	G	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr1:170965648G>C	ENST00000367759.4	+	14	1492	c.1338G>C	c.(1336-1338)ttG>ttC	p.L446F	MROH9_ENST00000367758.3_Splice_Site_p.L446F	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		GGGGCTTTAGGTATGCCCAGG	0.423													4	122	---	---	---	---	0	0
ZNF131	7690	broad.mit.edu	37	5	43175082	43175082	+	Silent	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr5:43175082C>T	ENST00000509634.1	+	7	2073	c.1617C>T	c.(1615-1617)aaC>aaT	p.N539N	ZNF131_ENST00000509156.1_Silent_p.N573N|ZNF131_ENST00000399534.1_Silent_p.N573N|ZNF131_ENST00000306938.4_Silent_p.N539N|ZNF131_ENST00000505606.2_Silent_p.N539N|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	573						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAATCATGAACCAAGAGGAGA	0.488													24	34	---	---	---	---	0	0
GRM1	2911	broad.mit.edu	37	6	146755288	146755288	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr6:146755288C>T	ENST00000361719.2	+	9	3411	c.2941C>T	c.(2941-2943)Cgc>Tgc	p.R981C	GRM1_ENST00000282753.1_Missense_Mutation_p.R981C|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	981					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R981C(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGTGCACAGGCGCGTGCCAAG	0.652													48	79	---	---	---	---	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027931	92027931	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:92027931A>G	ENST00000265742.3	+	20	3314	c.2938A>G	c.(2938-2940)Atg>Gtg	p.M980V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	980							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTTCATGACATGAACCCTCA	0.483													31	47	---	---	---	---	0	0
FBXO24	26261	broad.mit.edu	37	7	100190516	100190516	+	Silent	SNP	T	T	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:100190516T>C	ENST00000241071.6	+	5	991	c.669T>C	c.(667-669)tgT>tgC	p.C223C	FBXO24_ENST00000468962.1_Silent_p.C211C|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.C209C|FBXO24_ENST00000465843.1_Silent_p.C209C|FBXO24_ENST00000427939.2_Silent_p.C261C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	223						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTGTGACTGTGTTGAGGTCT	0.557													21	24	---	---	---	---	0	0
OR6V1	346517	broad.mit.edu	37	7	142750093	142750093	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:142750093T>C	ENST00000418316.1	+	1	677	c.656T>C	c.(655-657)aTa>aCa	p.I219T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TATGGCTACATAGTGACCACT	0.547													4	169	---	---	---	---	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139818	68139818	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr8:68139818T>C	ENST00000262215.3	-	26	3996	c.3607A>G	c.(3607-3609)Aat>Gat	p.N1203D	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N657D|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N41D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1203					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACATCTTCATTAGGATTACAC	0.343													46	52	---	---	---	---	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507029	130507029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr9:130507029C>T	ENST00000314830.8	-	7	1727	c.1614G>A	c.(1612-1614)tgG>tgA	p.W538*	SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.W470*|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.W184*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.W380*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.W381*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.W378*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	538					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.W538C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGTCTTGCCCCAGTCCCCTT	0.602													69	129	---	---	---	---	0	0
INPP5E	56623	broad.mit.edu	37	9	139329254	139329254	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr9:139329254G>A	ENST00000371712.3	-	2	1276	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	292						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGAAGTAGCGGGCCAGCTCA	0.682													10	13	---	---	---	---	0	0
OR52A1	23538	broad.mit.edu	37	11	5173454	5173454	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr11:5173454C>T	ENST00000380367.1	-	2	563	c.146G>A	c.(145-147)aGc>aAc	p.S49N	OR52A1_ENST00000328942.1_Missense_Mutation_p.S49N			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	49					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGATGATGCTCAGAAGCAA	0.463													26	40	---	---	---	---	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529067	5529067	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr11:5529067A>C	ENST00000311659.4	-	2	1869	c.1722T>G	c.(1720-1722)aaT>aaG	p.N574K	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	574										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAGGTGGATTTGGGAGAG	0.522													22	26	---	---	---	---	0	0
CLEC6A	93978	broad.mit.edu	37	12	8618186	8618186	+	Missense_Mutation	SNP	G	G	T	rs141203382	byFrequency	TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr12:8618186G>T	ENST00000382073.3	+	4	516	c.330G>T	c.(328-330)atG>atT	p.M110I		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	110	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GTGTTGAGATGGGAGCACATT	0.383													8	69	---	---	---	---	0	0
STAB2	55576	broad.mit.edu	37	12	104048409	104048409	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr12:104048409A>G	ENST00000388887.2	+	13	1688	c.1484A>G	c.(1483-1485)aAt>aGt	p.N495S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	495	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTGCTTCCAATGGGCTTCTG	0.393													32	44	---	---	---	---	0	0
GLT8D2	83468	broad.mit.edu	37	12	104387275	104387275	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr12:104387275G>T	ENST00000360814.4	-	10	1180	c.775C>A	c.(775-777)Ctc>Atc	p.L259I	GLT8D2_ENST00000546436.1_Missense_Mutation_p.L259I|GLT8D2_ENST00000548660.1_Missense_Mutation_p.L259I	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	259						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTGCTATAGAGGTTTTCCCTA	0.438													3	18	---	---	---	---	0	0
SNHG14	0	broad.mit.edu	37	15	25488801	25488801	+	RNA	SNP	G	G	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr15:25488801G>T	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						GAAGAGAGGTGATGACTTAAA	0.522													7	468	---	---	---	---	0	0
PHKB	5257	broad.mit.edu	37	16	47697603	47697603	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr16:47697603A>G	ENST00000455779.1	+	25	2458	c.2273A>G	c.(2272-2274)cAc>cGc	p.H758R	PHKB_ENST00000323584.5_Missense_Mutation_p.H765R|PHKB_ENST00000566044.1_Missense_Mutation_p.H758R|PHKB_ENST00000299167.8_Missense_Mutation_p.H765R			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	765					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTTTCTGATCACATTGAGAGA	0.328													36	49	---	---	---	---	0	0
MBTPS1	8720	broad.mit.edu	37	16	84124506	84124506	+	Silent	SNP	A	A	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr16:84124506A>T	ENST00000343411.3	-	8	1500	c.1005T>A	c.(1003-1005)gcT>gcA	p.A335A	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	335	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CATTGCCAATAGCAGAAACCA	0.373													11	72	---	---	---	---	0	0
CACNA1A	773	broad.mit.edu	37	19	13366064	13366064	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr19:13366064T>C	ENST00000360228.5	-	29	4599	c.4600A>G	c.(4600-4602)Att>Gtt	p.I1534V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1535V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1535					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCGAAATCAATGCAGGCCCTC	0.617													10	13	---	---	---	---	0	0
RNF113A	7737	broad.mit.edu	37	X	119005303	119005303	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chrX:119005303C>T	ENST00000371442.2	-	1	488	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	92	Poly-Glu.						nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTCTCGGGCTCATTTTCCTCT	0.547													116	26	---	---	---	---	0	0
C1orf173	127254	broad.mit.edu	37	1	75037029	75037029	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:75037029C>T	ENST00000326665.5	-	14	4583	c.4365G>A	c.(4363-4365)caG>caA	p.Q1455Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1455	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGGCTGCCTCCTGGCCCTCTG	0.592													8	72	---	---	---	---	0	0
HHAT	55733	broad.mit.edu	37	1	210637880	210637880	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:210637880C>T	ENST00000367010.1	+	8	1115	c.888C>T	c.(886-888)ttC>ttT	p.F296F	HHAT_ENST00000545154.1_Silent_p.F297F|HHAT_ENST00000391905.3_Silent_p.F296F|HHAT_ENST00000545781.1_Silent_p.F233F|HHAT_ENST00000308852.6_Silent_p.F251F|HHAT_ENST00000413764.2_Silent_p.F296F|HHAT_ENST00000537898.1_Silent_p.F231F|HHAT_ENST00000541565.1_Silent_p.F159F|HHAT_ENST00000261458.3_Silent_p.F296F|HHAT_ENST00000367009.1_5'UTR	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	296					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGCTCTTTTTCTACGTGAAGT	0.562													33	148	---	---	---	---	0	0
HHAT	55733	broad.mit.edu	37	1	210637915	210637915	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:210637915C>T	ENST00000367010.1	+	8	1150	c.923C>T	c.(922-924)gCt>gTt	p.A308V	HHAT_ENST00000545154.1_Missense_Mutation_p.A309V|HHAT_ENST00000391905.3_Missense_Mutation_p.A308V|HHAT_ENST00000545781.1_Missense_Mutation_p.A245V|HHAT_ENST00000308852.6_Missense_Mutation_p.A263V|HHAT_ENST00000413764.2_Missense_Mutation_p.A308V|HHAT_ENST00000537898.1_Missense_Mutation_p.A243V|HHAT_ENST00000541565.1_Missense_Mutation_p.A171V|HHAT_ENST00000261458.3_Missense_Mutation_p.A308V|HHAT_ENST00000367009.1_5'UTR	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	308					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GGCGTGCCTGCTCTGCTCATG	0.577													24	121	---	---	---	---	0	0
RYR2	6262	broad.mit.edu	37	1	237923150	237923150	+	Silent	SNP	T	T	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr1:237923150T>C	ENST00000366574.2	+	83	11717	c.11400T>C	c.(11398-11400)tgT>tgC	p.C3800C	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.C3806C|RYR2_ENST00000542537.1_Silent_p.C3784C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3800					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCAGTCATGTAGGTAAGGAC	0.433													14	29	---	---	---	---	0	0
ANK2	287	broad.mit.edu	37	4	114274943	114274943	+	Silent	SNP	A	A	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr4:114274943A>G	ENST00000357077.4	+	38	5222	c.5169A>G	c.(5167-5169)gcA>gcG	p.A1723A	ANK2_ENST00000264366.6_Silent_p.A1690A|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1690					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGCTAGTGCAGAGAAAGCTG	0.423													13	209	---	---	---	---	0	0
HHIP	64399	broad.mit.edu	37	4	145580946	145580946	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr4:145580946G>A	ENST00000296575.3	+	4	1442	c.787G>A	c.(787-789)Gag>Aag	p.E263K	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.E263K|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	263						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AATTTTCAAGGAGCCTTATTT	0.373													6	112	---	---	---	---	0	0
GRM1	2911	broad.mit.edu	37	6	146350830	146350830	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr6:146350830C>T	ENST00000392299.2	+	2	647	c.177C>T	c.(175-177)gcC>gcT	p.A59A	GRM1_ENST00000355289.4_Silent_p.A59A|GRM1_ENST00000282753.1_Silent_p.A59A|GRM1_ENST00000492807.2_Silent_p.A59A|GRM1_ENST00000507907.1_Silent_p.A59A|GRM1_ENST00000361719.2_Silent_p.A59A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	59					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGCCTCCGGCCGAGAAAGTGC	0.587													5	65	---	---	---	---	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87369182	87369182	+	Silent	SNP	T	T	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr7:87369182T>C	ENST00000338056.3	+	6	996	c.585T>C	c.(583-585)aaT>aaC	p.N195N	RUNDC3B_ENST00000493037.1_Silent_p.N178N|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Silent_p.N178N	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	195	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TAGGACTCAATGCTATTGATT	0.308													4	43	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151962178	151962178	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr7:151962178G>T	ENST00000355193.2	-	8	1347	c.1129C>A	c.(1129-1131)Cca>Aca	p.P377T	KMT2C_ENST00000262189.6_Missense_Mutation_p.P377T					lysine (K)-specific methyltransferase 2C																		CGTTTTAATGGAGTAACCGCT	0.453													28	528	---	---	---	---	0	0
MTFR1	9650	broad.mit.edu	37	8	66619384	66619384	+	Silent	SNP	C	C	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr8:66619384C>A	ENST00000262146.4	+	6	783	c.657C>A	c.(655-657)gcC>gcA	p.A219A	MTFR1_ENST00000458689.2_Silent_p.A186A|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	219						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			AGAAAAGAGCCAATGCTGGAA	0.473													4	73	---	---	---	---	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456601	106456601	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr8:106456601A>C	ENST00000407775.2	+	3	543	c.293A>C	c.(292-294)gAt>gCt	p.D98A	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	98					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GACGACTGGGATGGACCAGGT	0.423													3	12	---	---	---	---	0	0
DCAF10	79269	broad.mit.edu	37	9	37801316	37801316	+	Silent	SNP	C	C	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr9:37801316C>G	ENST00000242323.7	+	1	527	c.453C>G	c.(451-453)ctC>ctG	p.L151L	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Silent_p.L151L			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	151						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TGACTAGCCTCTACGGTTCCA	0.682													4	9	---	---	---	---	0	0
CATSPER1	117144	broad.mit.edu	37	11	65789325	65789325	+	Silent	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr11:65789325G>A	ENST00000312106.5	-	3	1592	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	485					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGAAGAATATGGAGTCCAAGG	0.562													22	50	---	---	---	---	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925128	54925128	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr12:54925128T>C	ENST00000293373.6	+	23	2670	c.2591T>C	c.(2590-2592)aTt>aCt	p.I864T	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I814T	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	864					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACCTCTCAGATTGTGGAGCTG	0.502													4	217	---	---	---	---	0	0
AP1G2	8906	broad.mit.edu	37	14	24035556	24035556	+	Silent	SNP	C	C	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr14:24035556C>T	ENST00000308724.5	-	3	1157	c.402G>A	c.(400-402)gaG>gaA	p.E134E	AP1G2_ENST00000397120.3_Silent_p.E134E|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	134					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTCGGCACATCTCAGCAGAGC	0.617													21	44	---	---	---	---	0	0
HYDIN	54768	broad.mit.edu	37	16	70902478	70902478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr16:70902478G>A	ENST00000393567.2	-	66	11455	c.11305C>T	c.(11305-11307)Cga>Tga	p.R3769*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3769										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTACTTTTCGTTTTGTAGTG	0.507													8	21	---	---	---	---	0	0
AP1G1	164	broad.mit.edu	37	16	71779049	71779049	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr16:71779049G>A	ENST00000299980.4	-	19	2438	c.1997C>T	c.(1996-1998)aCa>aTa	p.T666I	AP1G1_ENST00000569748.1_Missense_Mutation_p.T666I|AP1G1_ENST00000393512.3_Missense_Mutation_p.T669I|AP1G1_ENST00000423132.2_Missense_Mutation_p.T669I|AP1G1_ENST00000564155.1_Missense_Mutation_p.T91I|AP1G1_ENST00000433195.2_Missense_Mutation_p.T689I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	666					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGCCTCACCTGTAAGGTTGAT	0.448													8	88	---	---	---	---	0	0
C17orf76-AS1	0	broad.mit.edu	37	17	16344431	16344431	+	RNA	SNP	C	C	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr17:16344431C>G	ENST00000475953.1	+	0	527				C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA	NR_027667.1																						AGCAGCATCTCAGCCCAAGAG	0.473													29	79	---	---	---	---	0	0
RASD1	51655	broad.mit.edu	37	17	17398953	17398953	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr17:17398953A>G	ENST00000225688.3	-	2	543	c.332T>C	c.(331-333)tTc>tCc	p.F111S	RASD1_ENST00000579152.1_Intron	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	111					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CACCTCCTCGAAGGAGTCGCG	0.592													3	28	---	---	---	---	0	0
LAMA5	3911	broad.mit.edu	37	20	60887497	60887497	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr20:60887497T>G	ENST00000252999.3	-	68	9385	c.9319A>C	c.(9319-9321)Aac>Cac	p.N3107H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3107	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGTCGTGTTCAGCCGCTTG	0.692													4	9	---	---	---	---	0	0
BAGE2	85319	broad.mit.edu	37	21	11049505	11049505	+	RNA	SNP	G	G	T			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr21:11049505G>T	ENST00000470054.1	-	0	603									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGTTTTAATGGAGTAACCGCT	0.458													7	205	---	---	---	---	0	0
TNRC6B	23112	broad.mit.edu	37	22	40708548	40708548	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88L-01A-11D-A34U-08	TCGA-VN-A88L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee4cc9c-82a2-4d65-9b90-7263e4dc6164	46d69be0-f87a-48cd-8096-675fec8dea31	g.chr22:40708548T>G	ENST00000454349.2	+	18	4686	c.4475T>G	c.(4474-4476)aTt>aGt	p.I1492S	TNRC6B_ENST00000402203.1_Missense_Mutation_p.I688S|TNRC6B_ENST00000335727.9_Missense_Mutation_p.I1382S|TNRC6B_ENST00000301923.9_Missense_Mutation_p.I688S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1492					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ATCCAAAACATTGACCCTGAA	0.448													5	93	---	---	---	---	0	0
IFI16	3428	broad.mit.edu	37	1	159021837	159021837	+	Silent	SNP	T	T	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:159021837T>G	ENST00000295809.7	+	10	2289	c.2034T>G	c.(2032-2034)ctT>ctG	p.L678L	IFI16_ENST00000368132.3_Silent_p.L622L|IFI16_ENST00000448393.2_Silent_p.L566L|IFI16_ENST00000340979.6_Silent_p.L566L|IFI16_ENST00000368131.4_Silent_p.L622L|IFI16_ENST00000430894.2_Silent_p.L626L|IFI16_ENST00000359709.3_Silent_p.L622L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	678	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCAATCAGCTTTGCTCACAAA	0.403													35	53	---	---	---	---	0	0
IFI16	3428	broad.mit.edu	37	1	159021848	159021848	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:159021848C>A	ENST00000295809.7	+	10	2300	c.2045C>A	c.(2044-2046)aCt>aAt	p.T682N	IFI16_ENST00000368132.3_Missense_Mutation_p.T626N|IFI16_ENST00000448393.2_Missense_Mutation_p.T570N|IFI16_ENST00000340979.6_Missense_Mutation_p.T570N|IFI16_ENST00000368131.4_Missense_Mutation_p.T626N|IFI16_ENST00000430894.2_Missense_Mutation_p.T630N|IFI16_ENST00000359709.3_Missense_Mutation_p.T626N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	682	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGCTCACAAACTAAAGGAAGT	0.393													36	54	---	---	---	---	0	0
SELP	6403	broad.mit.edu	37	1	169580817	169580817	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:169580817A>G	ENST00000263686.6	-	7	1097	c.1060T>C	c.(1060-1062)Tgc>Cgc	p.C354R	SELP_ENST00000367794.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C292R|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C292R|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	354	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CCGGGCTGGCACTCAAATTTA	0.552													4	104	---	---	---	---	0	0
LAMC1	3915	broad.mit.edu	37	1	183093828	183093828	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:183093828G>A	ENST00000258341.4	+	14	2721	c.2464G>A	c.(2464-2466)Gtg>Atg	p.V822M		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	822	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAACGGCCCTGTGAGACTTTG	0.498													36	61	---	---	---	---	0	0
CRB1	23418	broad.mit.edu	37	1	197297963	197297963	+	Missense_Mutation	SNP	C	C	T	rs62635651		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:197297963C>T	ENST00000367400.3	+	2	617	c.482C>T	c.(481-483)gCc>gTc	p.A161V	CRB1_ENST00000367399.2_Missense_Mutation_p.A161V|CRB1_ENST00000538660.1_Missense_Mutation_p.A161V|CRB1_ENST00000535699.1_Missense_Mutation_p.A92V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	161	EGF-like 4; calcium-binding (Potential).		A -> V (in RP12).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAAAATGGGGCCGTGTGCCAG	0.507													7	26	---	---	---	---	0	0
IQCA1	79781	broad.mit.edu	37	2	237285745	237285745	+	Splice_Site	SNP	C	C	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr2:237285745C>A	ENST00000409907.3	-	13	1836		c.e13+1		IQCA1_ENST00000431676.2_Splice_Site|IQCA1_ENST00000309507.5_Splice_Site	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1								ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TGTGTACTCACCAATGTAATC	0.418													22	28	---	---	---	---	0	0
RP1	6101	broad.mit.edu	37	8	55540777	55540777	+	Silent	SNP	T	T	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr8:55540777T>A	ENST00000220676.1	+	4	4483	c.4335T>A	c.(4333-4335)tcT>tcA	p.S1445S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1445					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACGGACTTCTGAAGAACCAG	0.343													22	51	---	---	---	---	0	0
GPR158	57512	broad.mit.edu	37	10	25887029	25887029	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr10:25887029G>A	ENST00000376351.3	+	11	2833	c.2474G>A	c.(2473-2475)aGa>aAa	p.R825K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	825						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GACCACGTGAGAGACCAAACG	0.493													16	61	---	---	---	---	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			26	54	---	---	---	---	0	0
TRIM51	84767	broad.mit.edu	37	11	55658642	55658642	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:55658642G>C	ENST00000449290.2	+	7	985	c.893G>C	c.(892-894)aGt>aCt	p.S298T	TRIM51_ENST00000244891.3_Missense_Mutation_p.S155T	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	298	B30.2/SPRY.					intracellular	zinc ion binding										AGAGCCAATAGTCATATCTTC	0.333													28	45	---	---	---	---	0	0
CACNA1C	775	broad.mit.edu	37	12	2566835	2566835	+	Silent	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr12:2566835C>T	ENST00000399655.1	+	5	985	c.720C>T	c.(718-720)cgC>cgT	p.R240R	CACNA1C_ENST00000399601.1_Silent_p.R240R|CACNA1C_ENST00000347598.4_Silent_p.R240R|CACNA1C_ENST00000399641.1_Silent_p.R240R|CACNA1C_ENST00000399595.1_Silent_p.R240R|CACNA1C_ENST00000399603.1_Silent_p.R240R|CACNA1C_ENST00000480911.1_Silent_p.R240R|CACNA1C_ENST00000402845.3_Silent_p.R240R|CACNA1C_ENST00000335762.5_Silent_p.R240R|CACNA1C_ENST00000399629.1_Silent_p.R240R|CACNA1C_ENST00000399606.1_Silent_p.R240R|CACNA1C_ENST00000399649.1_Silent_p.R240R|CACNA1C_ENST00000327702.7_Silent_p.R240R|CACNA1C_ENST00000399638.1_Silent_p.R240R|CACNA1C_ENST00000399591.1_Silent_p.R240R|CACNA1C_ENST00000399597.1_Silent_p.R240R|CACNA1C_ENST00000399621.1_Silent_p.R240R|CACNA1C_ENST00000399637.1_Silent_p.R240R|CACNA1C_ENST00000406454.3_Silent_p.R240R|CACNA1C_ENST00000399644.1_Silent_p.R240R|CACNA1C_ENST00000344100.3_Silent_p.R240R|CACNA1C_ENST00000399634.1_Silent_p.R240R|CACNA1C_ENST00000399617.1_Silent_p.R240R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	240					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGCCTTCCGCGTGCTGCGCC	0.552													20	217	---	---	---	---	0	0
DNAH9	1770	broad.mit.edu	37	17	11532900	11532900	+	Splice_Site	SNP	C	C	T	rs141702885	by1000genomes	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:11532900C>T	ENST00000262442.4	+	7	1585	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	DNAH9_ENST00000454412.2_Splice_Site_p.T506M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCAAAGCACGGTAGGGTTG	0.507													4	43	---	---	---	---	0	0
ALDOC	230	broad.mit.edu	37	17	26902441	26902441	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:26902441A>G	ENST00000226253.4	-	2	585	c.110T>C	c.(109-111)gTa>gCa	p.V37A	ALDOC_ENST00000395319.3_Missense_Mutation_p.V37A|ALDOC_ENST00000395321.2_Missense_Mutation_p.V37A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	37					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CCACTTACCTACAGACTCATC	0.567											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	41	---	---	---	---	0	0
CCDC40	55036	broad.mit.edu	37	17	78061450	78061450	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:78061450C>G	ENST00000397545.4	+	15	2521	c.2494C>G	c.(2494-2496)Cac>Gac	p.H832D	CCDC40_ENST00000374877.3_Missense_Mutation_p.H832D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	832					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GATCGAGCACCACATGAAGGA	0.542													6	19	---	---	---	---	0	0
CCBE1	147372	broad.mit.edu	37	18	57133976	57133976	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr18:57133976T>C	ENST00000439986.4	-	5	585	c.548A>G	c.(547-549)gAc>gGc	p.D183G	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	183					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTTACCAGTGTCATTGGGATA	0.398													30	114	---	---	---	---	0	0
PVRL2	5819	broad.mit.edu	37	19	45377223	45377223	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr19:45377223C>T	ENST00000252483.5	+	4	826	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	PVRL2_ENST00000252485.4_Missense_Mutation_p.R276C	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	276	Ig-like C2-type 2.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTACCTCGGCCGTACTGATGC	0.602													30	51	---	---	---	---	0	0
SON	6651	broad.mit.edu	37	21	34924043	34924043	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr21:34924043T>G	ENST00000356577.4	+	3	2981	c.2506T>G	c.(2506-2508)Tta>Gta	p.L836V	SON_ENST00000300278.4_Missense_Mutation_p.L836V|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.L836V|SON_ENST00000290239.6_Missense_Mutation_p.L836V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	836	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTCCCAGATGTTAGCAACCAG	0.507													89	169	---	---	---	---	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104984612	104984612	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chrX:104984612C>A	ENST00000372582.1	+	8	1732	c.976C>A	c.(976-978)Ctg>Atg	p.L326M	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L326M	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	326	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAAGCTGACCTGGCGAATTA	0.398													48	19	---	---	---	---	0	0
KIF1B	23095	broad.mit.edu	37	1	10364265	10364265	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:10364265G>A	ENST00000377093.4	+	21	3175	c.3022G>A	c.(3022-3024)Ggg>Agg	p.G1008R	KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008R|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCAAGAAAAAGGGGGTAAAGG	0.413													7	151	---	---	---	---	0	0
OMA1	115209	broad.mit.edu	37	1	59004846	59004846	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:59004846C>G	ENST00000371226.3	-	2	234	c.121G>C	c.(121-123)Gta>Cta	p.V41L	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.V41L|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	41					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTAACTTGTACTTGATGACAG	0.393													13	149	---	---	---	---	0	0
ANAPC1	64682	broad.mit.edu	37	2	112605385	112605385	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:112605385G>A	ENST00000341068.3	-	15	2480	c.1708C>T	c.(1708-1710)Ctc>Ttc	p.L570F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	570					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCATTATAGAGAGAATCATGA	0.363													8	168	---	---	---	---	0	0
PTPN4	5775	broad.mit.edu	37	2	120567452	120567452	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:120567452C>G	ENST00000263708.2	+	2	794	c.23C>G	c.(22-24)cCt>cGt	p.P8R	PTPN4_ENST00000460162.1_3'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	8						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTCCGATTGCCTGCTGGCAGA	0.388													36	54	---	---	---	---	0	0
LY75	4065	broad.mit.edu	37	2	160665083	160665083	+	Splice_Site	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:160665083C>A	ENST00000263636.4	-	33	4727		c.e33-1		LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCAGAGTGATCTGTTGAAAGA	0.313													10	39	---	---	---	---	0	0
SLC38A11	151258	broad.mit.edu	37	2	165755002	165755002	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:165755002G>C	ENST00000303735.4	-	10	1430	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	SLC38A11_ENST00000409058.1_Missense_Mutation_p.S420C|SLC38A11_ENST00000409662.1_Missense_Mutation_p.S389C|SLC38A11_ENST00000409149.3_Missense_Mutation_p.S389C	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	389					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CTGAACATGAGACTCTGAGGT	0.353													3	53	---	---	---	---	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545261	196545261	+	Silent	SNP	A	A	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:196545261A>G	ENST00000409086.3	+	2	770	c.495A>G	c.(493-495)aaA>aaG	p.K165K	SLC39A10_ENST00000359634.5_Silent_p.K165K|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	165	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGTCTGTAAAATCTGATGATA	0.348													14	89	---	---	---	---	0	0
CLK1	1195	broad.mit.edu	37	2	201724917	201724917	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:201724917T>C	ENST00000434813.2	-	4	872	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	CLK1_ENST00000321356.4_Missense_Mutation_p.T138A	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	138	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACACTCCTGGTTCTTTTCCTT	0.438													6	83	---	---	---	---	0	0
SPEG	10290	broad.mit.edu	37	2	220334050	220334050	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:220334050T>C	ENST00000312358.7	+	13	3796	c.3664T>C	c.(3664-3666)Ttc>Ctc	p.F1222L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1222	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATCAGCTGGTTCCACAATGG	0.642													3	22	---	---	---	---	0	0
TBC1D1	23216	broad.mit.edu	37	4	38097623	38097623	+	Silent	SNP	A	A	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr4:38097623A>G	ENST00000261439.4	+	14	2665	c.2310A>G	c.(2308-2310)gtA>gtG	p.V770V	TBC1D1_ENST00000508802.1_Silent_p.V864V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	770						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTAAAGAAGTAACTACAGTGT	0.413													6	116	---	---	---	---	0	0
FILIP1	27145	broad.mit.edu	37	6	76022612	76022612	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr6:76022612G>A	ENST00000393004.2	-	5	3157	c.2936C>T	c.(2935-2937)tCc>tTc	p.S979F	FILIP1_ENST00000370020.1_Missense_Mutation_p.S880F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S979F			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	979										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTGACTGGGGACATGGCTCG	0.448													8	171	---	---	---	---	0	0
FNDC1	84624	broad.mit.edu	37	6	159654416	159654416	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr6:159654416G>A	ENST00000297267.9	+	11	3072	c.2872G>A	c.(2872-2874)Gcg>Acg	p.A958T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A895T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	958						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAGCACAGACGCGGACACGGA	0.622													4	27	---	---	---	---	0	0
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													7	208	---	---	---	---	0	0
TRBV7-4	0	broad.mit.edu	37	7	142176782	142176782	+	RNA	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr7:142176782G>T	ENST00000390369.2	-	0	8																											AGAGGAGCCTGGTGCCCATGG	0.552													4	87	---	---	---	---	0	0
UBR5	51366	broad.mit.edu	37	8	103291134	103291134	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr8:103291134G>T	ENST00000520539.1	-	44	6814	c.6208C>A	c.(6208-6210)Cca>Aca	p.P2070T	UBR5_ENST00000220959.4_Missense_Mutation_p.P2070T|UBR5_ENST00000521922.1_Missense_Mutation_p.P2064T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2070					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCCTGACTTGGACGGCCAAAA	0.353													5	146	---	---	---	---	0	0
MRPL13	28998	broad.mit.edu	37	8	121426335	121426335	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr8:121426335A>C	ENST00000306185.3	-	6	701	c.410T>G	c.(409-411)aTt>aGt	p.I137S		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	137					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTCTTAAGAATATCTTCTGG	0.289													8	23	---	---	---	---	0	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107528754	107528754	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr9:107528754T>C	ENST00000374762.3	+	2	280	c.209T>C	c.(208-210)gTt>gCt	p.V70A	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	70										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TCTGAATTGGTTGGATTCTGG	0.328													10	111	---	---	---	---	0	0
PAPPA	5069	broad.mit.edu	37	9	119106933	119106933	+	Silent	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr9:119106933C>T	ENST00000328252.3	+	14	4092	c.3723C>T	c.(3721-3723)agC>agT	p.S1241S	PAPPA_ENST00000534838.1_Silent_p.S279S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1241	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTACTGTGAGCTGCCGGACAG	0.582													4	83	---	---	---	---	0	0
C10orf10	11067	broad.mit.edu	37	10	45473237	45473237	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr10:45473237G>T	ENST00000298295.3	-	2	459	c.242C>A	c.(241-243)tCc>tAc	p.S81Y	RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	81						mitochondrion				lung(1)	1						GTCTCGCAGGGACACAGCAGG	0.672													10	66	---	---	---	---	0	0
OR52E2	119678	broad.mit.edu	37	11	5080816	5080816	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:5080816G>A	ENST00000321522.2	-	1	41	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGCAACAGGAAGGAGGAGG	0.483													4	44	---	---	---	---	0	0
APOA4	337	broad.mit.edu	37	11	116692051	116692051	+	Silent	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:116692051C>T	ENST00000357780.3	-	3	837	c.723G>A	c.(721-723)ctG>ctA	p.L241L		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCTGGAAGGTCAGGCCCTCAA	0.632													21	133	---	---	---	---	0	0
ZNF830	91603	broad.mit.edu	37	17	33289179	33289179	+	Silent	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:33289179G>T	ENST00000361952.3	+	1	631	c.594G>T	c.(592-594)cgG>cgT	p.R198R		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	198					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				CCTCTTCACGGGAGGTAACAA	0.507													3	36	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696450	47696450	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:47696450A>T	ENST00000393331.3	-	7	843	c.373T>A	c.(373-375)Ttt>Att	p.F125I	SPOP_ENST00000347630.2_Missense_Mutation_p.F125I|SPOP_ENST00000503676.1_Missense_Mutation_p.F125I|SPOP_ENST00000504102.1_Missense_Mutation_p.F125I|SPOP_ENST00000393328.2_Missense_Mutation_p.F125I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	125	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F125V(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCTTGCACAAACCTATATGCC	0.433										Prostate(2;0.17)			46	88	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9006353	9006353	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:9006353G>T	ENST00000397910.4	-	45	39868	c.39665C>A	c.(39664-39666)aCc>aAc	p.T13222N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13224	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGAGCAAGGTCAGTCTGCA	0.502													4	122	---	---	---	---	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587012	15587012	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:15587012C>A	ENST00000292609.4	-	2	598	c.469G>T	c.(469-471)Gat>Tat	p.D157Y	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D157Y			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	157					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCCACAACATCTGGAAAGGTA	0.582													10	54	---	---	---	---	0	0
ARHGEF1	0	broad.mit.edu	37	19	42396405	42396405	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:42396405C>A	ENST00000599846.1	+	6	453	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L92I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L125I|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L77I|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.L110I			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	110	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGAGCAGGTTCTCCGGGTGCC	0.612													5	134	---	---	---	---	0	0
SNPH	9751	broad.mit.edu	37	20	1281299	1281299	+	Silent	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:1281299G>T	ENST00000381867.1	+	6	1026	c.384G>T	c.(382-384)gtG>gtT	p.V128V	SNPH_ENST00000381873.3_Silent_p.V84V			O15079	SNPH_HUMAN	syntaphilin	84					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGAAGGAGGTGTGCATCCGGC	0.652													7	36	---	---	---	---	0	0
PROKR2	128674	broad.mit.edu	37	20	5283271	5283271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:5283271G>T	ENST00000546004.1	-	3	816	c.570C>A	c.(568-570)taC>taA	p.Y190*	PROKR2_ENST00000217270.3_Nonsense_Mutation_p.Y190*			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	190						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGTTGCAAAGTAAGCCGATG	0.498										HNSCC(71;0.22)			6	123	---	---	---	---	0	0
VAV3	10451	broad.mit.edu	37	1	108417551	108417551	+	Missense_Mutation	SNP	T	T	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr1:108417551T>A	ENST00000370056.4	-	2	567	c.293A>T	c.(292-294)gAc>gTc	p.D98V	VAV3_ENST00000371846.4_Missense_Mutation_p.D33V|VAV3_ENST00000527011.1_Missense_Mutation_p.D98V	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	98	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATCAAACAAGTCAAATGCCTC	0.353													20	30	---	---	---	---	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43926933	43926933	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr2:43926933C>T	ENST00000282406.4	+	8	946	c.836C>T	c.(835-837)tCt>tTt	p.S279F		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	279						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCCCAGAATTCTGGGGCTCCT	0.512													15	56	---	---	---	---	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192103	125192103	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr2:125192103A>G	ENST00000431078.1	+	5	936	c.572A>G	c.(571-573)tAc>tGc	p.Y191C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	191	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCACTTCTGTACAGGTTCAAT	0.448													13	63	---	---	---	---	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173832003	173832003	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr2:173832003C>T	ENST00000264111.6	+	10	1019	c.832C>T	c.(832-834)Cat>Tat	p.H278Y	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H135Y|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H59Y|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.H279Y|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.H279Y|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H108Y			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	279	DEP.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCAGGAGCACCATTTCCAAGA	0.493													7	13	---	---	---	---	0	0
TMF1	7110	broad.mit.edu	37	3	69087802	69087802	+	Silent	SNP	A	A	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr3:69087802A>C	ENST00000543976.1	-	8	2319	c.2073T>G	c.(2071-2073)cgT>cgG	p.R691R	CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Silent_p.R688R|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	688					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CTTTCATTTCACGGCTCAGAG	0.403													52	64	---	---	---	---	0	0
PDZRN3	23024	broad.mit.edu	37	3	73657756	73657756	+	Missense_Mutation	SNP	G	G	A	rs144715916		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr3:73657756G>A	ENST00000263666.4	-	2	917	c.803C>T	c.(802-804)cCg>cTg	p.P268L	PDZRN3_ENST00000308537.4_Missense_Mutation_p.P268L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	268	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TACCACACTCGGCCGGCCACC	0.473													6	12	---	---	---	---	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069639	114069639	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr3:114069639C>A	ENST00000462705.1	-	11	1888	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	ZBTB20_ENST00000357258.3_Missense_Mutation_p.G356V|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.G429V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G356V	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGAGGAAGCACCTGTTTCTAG	0.607													31	60	---	---	---	---	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447287	10447287	+	Silent	SNP	G	G	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr4:10447287G>C	ENST00000326756.3	-	3	1104	c.666C>G	c.(664-666)gtC>gtG	p.V222V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CAACAGCTTTGACTGGCCGTT	0.413													9	261	---	---	---	---	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146080619	146080619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr5:146080619G>A	ENST00000394413.3	-	2	727	c.157C>T	c.(157-159)Cga>Tga	p.R53*	PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.R119*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.R59*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.R111*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.R56*|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	53					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTGCTCTCGTTGAAATATT	0.453													97	313	---	---	---	---	0	0
FAM71B	153745	broad.mit.edu	37	5	156590429	156590429	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr5:156590429C>T	ENST00000302938.4	-	2	942	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	283	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGCTATTGCCACATCTGTT	0.582													24	97	---	---	---	---	0	0
PTK7	0	broad.mit.edu	37	6	43112201	43112201	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr6:43112201A>G	ENST00000230419.4	+	15	2485	c.2264A>G	c.(2263-2265)cAg>cGg	p.Q755R	PTK7_ENST00000349241.2_Missense_Mutation_p.Q625R|PTK7_ENST00000481273.1_Missense_Mutation_p.Q763R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q715R|PTK7_ENST00000352931.2_Missense_Mutation_p.Q699R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	755					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGGCCTTTGCAGAACGGGCAG	0.592													11	62	---	---	---	---	0	0
NT5E	4907	broad.mit.edu	37	6	86195049	86195049	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr6:86195049T>G	ENST00000257770.3	+	4	897	c.848T>G	c.(847-849)tTt>tGt	p.F283C	NT5E_ENST00000369651.3_Missense_Mutation_p.F283C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	283					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GCCTATGCTTTTGGCAAATAC	0.468													43	45	---	---	---	---	0	0
SDK1	221935	broad.mit.edu	37	7	4119141	4119141	+	Silent	SNP	T	T	G			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr7:4119141T>G	ENST00000404826.2	+	22	3388	c.3249T>G	c.(3247-3249)ccT>ccG	p.P1083P	SDK1_ENST00000389531.3_Silent_p.P1083P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1083	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACATCAGCCCTCGCTCCGCCA	0.567													27	123	---	---	---	---	0	0
SDAD1P1	0	broad.mit.edu	37	8	26237669	26237669	+	RNA	SNP	A	A	G			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr8:26237669A>G	ENST00000519902.1	-	0	2279																											TCAAAGTTCTAGCAGACATCA	0.443													9	50	---	---	---	---	0	0
RANBP6	26953	broad.mit.edu	37	9	6013360	6013360	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:6013360G>A	ENST00000259569.5	-	1	2258	c.2248C>T	c.(2248-2250)Ctt>Ttt	p.L750F		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	750					protein transport	cytoplasm|nucleus	binding	p.L750F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTGTGCAAGATACTCTGGG	0.413													11	86	---	---	---	---	0	0
RANBP6	26953	broad.mit.edu	37	9	6013361	6013361	+	Nonsense_Mutation	SNP	A	A	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:6013361A>T	ENST00000259569.5	-	1	2257	c.2247T>A	c.(2245-2247)taT>taA	p.Y749*		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	749					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCTGTGCAAGATACTCTGGGC	0.413													11	87	---	---	---	---	0	0
IPPK	64768	broad.mit.edu	37	9	95378253	95378253	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:95378253T>C	ENST00000287996.3	-	13	1613	c.1337A>G	c.(1336-1338)gAg>gGg	p.E446G	CENPP_ENST00000375587.3_3'UTR|IPPK_ENST00000375522.1_Missense_Mutation_p.E118G|IPPK_ENST00000486841.1_5'UTR	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	446					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGGAATGCTCTCGTAGGGCTT	0.498													6	39	---	---	---	---	0	0
BRINP1	1620	broad.mit.edu	37	9	121930373	121930373	+	Silent	SNP	G	G	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:121930373G>A	ENST00000265922.3	-	8	1736	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	425																	CGCAGGGGATGGGGCGCTGGC	0.607													7	13	---	---	---	---	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870588	129870588	+	Silent	SNP	G	G	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:129870588G>T	ENST00000373425.3	-	2	1040	c.423C>A	c.(421-423)ctC>ctA	p.L141L	RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	141					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TCTCGTGCAGGAGCTGCATGT	0.617													28	28	---	---	---	---	0	0
KIAA1462	57608	broad.mit.edu	37	10	30306821	30306821	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr10:30306821C>G	ENST00000375377.1	-	4	4172	c.4071G>C	c.(4069-4071)gaG>gaC	p.E1357D		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1357										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATCACACCCTCTCCACTCTGC	0.408													11	32	---	---	---	---	0	0
SORBS1	10580	broad.mit.edu	37	10	97074853	97074853	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr10:97074853G>C	ENST00000371247.2	-	33	4031	c.3842C>G	c.(3841-3843)aCt>aGt	p.T1281S	SORBS1_ENST00000361941.3_Missense_Mutation_p.T1281S|SORBS1_ENST00000371239.1_Missense_Mutation_p.T800S|SORBS1_ENST00000607232.1_Missense_Mutation_p.T1283S|SORBS1_ENST00000353505.5_Missense_Mutation_p.T894S|SORBS1_ENST00000277982.5_Missense_Mutation_p.T1140S|SORBS1_ENST00000371241.1_Missense_Mutation_p.T673S|SORBS1_ENST00000371246.2_Missense_Mutation_p.T1140S|SORBS1_ENST00000371249.2_Missense_Mutation_p.T805S|SORBS1_ENST00000371245.3_Missense_Mutation_p.T894S|SORBS1_ENST00000371227.4_Missense_Mutation_p.T1255S|SORBS1_ENST00000354106.3_Missense_Mutation_p.T993S|SORBS1_ENST00000393949.1_Missense_Mutation_p.T993S|SORBS1_ENST00000306402.6_Missense_Mutation_p.T770S|SORBS1_ENST00000347291.4_Missense_Mutation_p.T835S			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1281	SH3 3.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GCCTGGAAAAGTACCAAACTG	0.393													19	36	---	---	---	---	0	0
RNF214	257160	broad.mit.edu	37	11	117152031	117152031	+	Splice_Site	SNP	T	T	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr11:117152031T>C	ENST00000530849.1	+	8	692	c.682T>C	c.(682-684)Tca>Cca	p.S228P	RNF214_ENST00000300650.4_Splice_Site_p.S383P|RNF214_ENST00000531452.1_Splice_Site_p.S383P|RNF214_ENST00000531287.1_Splice_Site_p.S228P			Q8ND24	RN214_HUMAN	ring finger protein 214	383							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCTTGAAAGGTCAACTCCCCC	0.473													7	33	---	---	---	---	0	0
ITPR2	3709	broad.mit.edu	37	12	26640135	26640135	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:26640135A>T	ENST00000381340.3	-	40	5836	c.5420T>A	c.(5419-5421)tTt>tAt	p.F1807Y		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1807					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GAGAACTTTAAAGAATTTTTC	0.343													7	69	---	---	---	---	0	0
AVPR1A	0	broad.mit.edu	37	12	63543962	63543962	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:63543962A>T	ENST00000299178.2	-	1	760	c.655T>A	c.(655-657)Tgg>Agg	p.W219R		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	219					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCCGTCATCCAGGTCACGTAG	0.597													4	142	---	---	---	---	0	0
DNAH10	196385	broad.mit.edu	37	12	124297927	124297927	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:124297927G>A	ENST00000409039.3	+	19	3032	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1003	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGAAATTGGACAAAGCTAT	0.388													19	122	---	---	---	---	0	0
PIWIL1	9271	broad.mit.edu	37	12	130840152	130840152	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:130840152C>A	ENST00000245255.3	+	12	1616	c.1344C>A	c.(1342-1344)aaC>aaA	p.N448K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	448					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTGATTCCAACTTACTGTCCT	0.388													57	114	---	---	---	---	0	0
UNC79	57578	broad.mit.edu	37	14	93994973	93994973	+	Missense_Mutation	SNP	T	T	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr14:93994973T>A	ENST00000553484.1	+	9	1187	c.1033T>A	c.(1033-1035)Tgc>Agc	p.C345S	UNC79_ENST00000555664.1_Missense_Mutation_p.C345S|UNC79_ENST00000256339.4_Missense_Mutation_p.C168S|UNC79_ENST00000393151.2_Missense_Mutation_p.C345S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	345						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGTGAAGAATGCAGCGAGAG	0.378													44	58	---	---	---	---	0	0
UNC13C	440279	broad.mit.edu	37	15	54847665	54847665	+	Silent	SNP	G	G	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr15:54847665G>A	ENST00000545554.1	+	28	5913	c.5913G>A	c.(5911-5913)acG>acA	p.T1971T	UNC13C_ENST00000260323.11_Silent_p.T1971T|UNC13C_ENST00000537900.1_Silent_p.T1969T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1971	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGGTCTGACGCCAAGACAAT	0.438													7	2	---	---	---	---	0	0
SLC26A11	284129	broad.mit.edu	37	17	78222020	78222020	+	Silent	SNP	C	C	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr17:78222020C>T	ENST00000361193.3	+	14	1666	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	SLC26A11_ENST00000411502.3_Silent_p.L462L|SLC26A11_ENST00000572725.1_Silent_p.L462L|SLC26A11_ENST00000546047.2_Silent_p.L462L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	462						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGTCTCTGCTCATGCTCCTGC	0.637													8	11	---	---	---	---	0	0
RNMT	8731	broad.mit.edu	37	18	13759951	13759951	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr18:13759951G>C	ENST00000383314.2	+	12	1644	c.1404G>C	c.(1402-1404)ttG>ttC	p.L468F	RNMT_ENST00000543302.2_Missense_Mutation_p.L468F|RNMT_ENST00000535051.1_Missense_Mutation_p.L226F|RNMT_ENST00000589866.1_Missense_Mutation_p.L468F|RNMT_ENST00000262173.3_Missense_Mutation_p.L468F|RNMT_ENST00000592764.1_Intron			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	468					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GTATTTACTTGGTGTTTGCCT	0.348													17	17	---	---	---	---	0	0
SERPINB8	5271	broad.mit.edu	37	18	61652428	61652428	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr18:61652428G>C	ENST00000397985.2	+	6	925	c.669G>C	c.(667-669)gaG>gaC	p.E223D	SERPINB8_ENST00000542677.1_Missense_Mutation_p.E41D|SERPINB8_ENST00000493661.1_3'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E223D|SERPINB8_ENST00000397988.3_Missense_Mutation_p.E223D	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	223					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ATGTGGAAGAGGAGCTGAGCA	0.512													11	27	---	---	---	---	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054211	4054211	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr19:4054211C>A	ENST00000322357.4	-	2	1298	c.1020G>T	c.(1018-1020)gaG>gaT	p.E340D	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.E340D	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	340					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCCGCGACTCCTCGTCGC	0.706													9	20	---	---	---	---	0	0
CT47B1	643311	broad.mit.edu	37	X	120009180	120009180	+	Silent	SNP	G	G	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chrX:120009180G>A	ENST00000371311.3	-	1	599	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	115										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCGCCGCCGGGTACCGACGGG	0.632													10	6	---	---	---	---	0	0
TROVE2	6738	broad.mit.edu	37	1	193045706	193045706	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:193045706G>A	ENST00000432079.1	+	3	620	c.52G>A	c.(52-54)Gta>Ata	p.V18I	TROVE2_ENST00000367445.3_Missense_Mutation_p.V293I|TROVE2_ENST00000367444.3_Missense_Mutation_p.V293I|TROVE2_ENST00000400968.2_Missense_Mutation_p.V293I|TROVE2_ENST00000367446.3_Missense_Mutation_p.V293I|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367441.1_Missense_Mutation_p.V293I|TROVE2_ENST00000367443.1_Missense_Mutation_p.V293I|TROVE2_ENST00000416058.2_Missense_Mutation_p.V18I			P10155	RO60_HUMAN	TROVE domain family, member 2	293	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TGCTAATTCAGTACTTGAACC	0.323													61	176	---	---	---	---	0	0
SLC41A1	254428	broad.mit.edu	37	1	205767940	205767940	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:205767940A>G	ENST00000367137.3	-	6	1715	c.701T>C	c.(700-702)aTg>aCg	p.M234T	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	234						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AATCATGATCATACCTGGTGA	0.532													48	48	---	---	---	---	0	0
PARP1	142	broad.mit.edu	37	1	226570790	226570790	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:226570790G>A	ENST00000366794.5	-	8	1249	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	369					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGAGGGCGGAGGCGTGGCCGC	0.532								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					67	193	---	---	---	---	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968056	102968056	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:102968056C>T	ENST00000233954.1	+	11	1617	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	449	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCATCCTGACCCCTCAGATC	0.463													22	46	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	141108609	141108609	+	Splice_Site	SNP	T	T	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:141108609T>A	ENST00000389484.3	-	77	12622		c.e77-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCAGAGCCTGGAGattatt	0.264										TSP Lung(27;0.18)			21	77	---	---	---	---	0	0
USP37	57695	broad.mit.edu	37	2	219418330	219418330	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:219418330C>G	ENST00000258399.3	-	5	686	c.274G>C	c.(274-276)Gca>Cca	p.A92P	USP37_ENST00000338465.5_Missense_Mutation_p.A92P|USP37_ENST00000418019.1_Missense_Mutation_p.A92P|USP37_ENST00000415516.1_Missense_Mutation_p.A20P|USP37_ENST00000454775.1_Missense_Mutation_p.A92P	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	92					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ATTTCCTCTGCATCCTTACTT	0.433													3	67	---	---	---	---	0	0
ALS2CL	259173	broad.mit.edu	37	3	46721979	46721979	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr3:46721979C>T	ENST00000318962.4	-	14	1572	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I	ALS2CL_ENST00000415953.1_Missense_Mutation_p.V497I	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	497					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTGACCATGACCCCTGGGCCG	0.602													10	47	---	---	---	---	0	0
GABRA4	2557	broad.mit.edu	37	4	46976285	46976285	+	Missense_Mutation	SNP	G	G	T	rs75640222		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr4:46976285G>T	ENST00000264318.3	-	6	1667	c.685C>A	c.(685-687)Caa>Aaa	p.Q229K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	229					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATACGGTTTGCCCAATCAAA	0.398													12	122	---	---	---	---	0	0
SH3RF1	57630	broad.mit.edu	37	4	170043369	170043369	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr4:170043369G>A	ENST00000284637.9	-	7	1569	c.1228C>T	c.(1228-1230)Ctt>Ttt	p.L410F	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	410						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GTGGAGGCAAGGACAGTGGCA	0.542													6	8	---	---	---	---	0	0
MSH3	4437	broad.mit.edu	37	5	80088578	80088578	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr5:80088578T>G	ENST00000265081.6	+	19	2650	c.2570T>G	c.(2569-2571)aTt>aGt	p.I857S		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	857					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GAAAGAAAAATTGTAATAAAA	0.328								Mismatch excision repair (MMR)					3	69	---	---	---	---	0	0
ARRDC3	57561	broad.mit.edu	37	5	90670917	90670917	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr5:90670917G>A	ENST00000265138.3	-	5	958	c.692C>T	c.(691-693)aCa>aTa	p.T231I		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	231					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GAAGGCCTGTGTTTGGTAAAT	0.433													39	58	---	---	---	---	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44807185	44807185	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr7:44807185A>G	ENST00000309315.4	+	19	2849	c.2726A>G	c.(2725-2727)aAc>aGc	p.N909S	ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.N877S|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.N909S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.N851S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.N883S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	909					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTACGAACAACAATGACGAC	0.557													16	36	---	---	---	---	0	0
SLC7A2	6542	broad.mit.edu	37	8	17396401	17396401	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr8:17396401C>T	ENST00000470360.1	+	3	185	c.68C>T	c.(67-69)gCc>gTc	p.A23V	SLC7A2_ENST00000398090.3_Missense_Mutation_p.A23V|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A23V|SLC7A2_ENST00000494857.1_Intron			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGAACACCTGCCCCACCGGTT	0.408													35	101	---	---	---	---	0	0
DAPK1	1612	broad.mit.edu	37	9	90262289	90262289	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr9:90262289A>G	ENST00000469640.2	+	14	1675	c.1300A>G	c.(1300-1302)Aac>Gac	p.N434D	DAPK1_ENST00000491893.1_Missense_Mutation_p.N434D|DAPK1_ENST00000472284.1_Missense_Mutation_p.N434D|DAPK1_ENST00000408954.3_Missense_Mutation_p.N434D|DAPK1_ENST00000358077.5_Missense_Mutation_p.N434D			P53355	DAPK1_HUMAN	death-associated protein kinase 1	434					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCTCAGTGAGAACAAATGCCC	0.507									Chronic Lymphocytic Leukemia, Familial Clustering of				20	50	---	---	---	---	0	0
ZNF365	22891	broad.mit.edu	37	10	64136573	64136573	+	Silent	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr10:64136573A>G	ENST00000395254.3	+	2	901	c.621A>G	c.(619-621)aaA>aaG	p.K207K	ZNF365_ENST00000410046.3_Silent_p.K207K|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Silent_p.K207K	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGACTCAGAAAAAGCAGGAAG	0.507													32	91	---	---	---	---	0	0
MUC5B	727897	broad.mit.edu	37	11	1248357	1248357	+	Silent	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:1248357C>T	ENST00000447027.1	+	5	616	c.558C>T	c.(556-558)aaC>aaT	p.N186N	MUC5B_ENST00000529681.1_Silent_p.N186N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	186	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCTGTGGAACGGAGAGGACA	0.662													8	25	---	---	---	---	0	0
KCNK4	50801	broad.mit.edu	37	11	64064397	64064397	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:64064397G>A	ENST00000538767.1	+	2	290	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	KCNK4_ENST00000394525.2_Silent_p.S79S|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000539216.1_Silent_p.S79S|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Silent_p.S79S			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	379						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						AAACCAACTCGACCAGCAACA	0.612													12	35	---	---	---	---	0	0
SRSF8	10929	broad.mit.edu	37	11	94800909	94800909	+	RNA	SNP	C	C	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:94800909C>A	ENST00000529911.1	+	0	549					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding										ACAGCGCTCTCCCTACAGCAG	0.587													7	54	---	---	---	---	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559089	129559089	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr12:129559089G>C	ENST00000422113.2	-	9	2957	c.2631C>G	c.(2629-2631)caC>caG	p.H877Q	TMEM132D_ENST00000389441.4_Missense_Mutation_p.H415Q	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	877						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGTCTGCAAGTGGCTGTTGT	0.557													18	69	---	---	---	---	0	0
TPTE2	93492	broad.mit.edu	37	13	20039450	20039450	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr13:20039450T>G	ENST00000400230.2	-	9	665	c.621A>C	c.(619-621)gaA>gaC	p.E207D	TPTE2_ENST00000457266.2_Missense_Mutation_p.E96D|TPTE2_ENST00000382977.4_Missense_Mutation_p.E207D|TPTE2_ENST00000382975.4_Missense_Mutation_p.E167D|TPTE2_ENST00000382978.1_Missense_Mutation_p.E167D|TPTE2_ENST00000255310.6_Missense_Mutation_p.E130D|TPTE2_ENST00000390680.2_Missense_Mutation_p.E130D|TPTE2_ENST00000400103.2_Missense_Mutation_p.E96D			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	207						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCCTTTTGTTTTCTGAAACCT	0.323													45	108	---	---	---	---	0	0
TOX4	9878	broad.mit.edu	37	14	21945674	21945674	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr14:21945674A>G	ENST00000405508.1	+	3	302	c.26A>G	c.(25-27)aAt>aGt	p.N9S	TOX4_ENST00000262709.3_Missense_Mutation_p.N9S|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Intron			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	9						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGAAATGACAATTACCTGACG	0.607											OREG0022569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	82	---	---	---	---	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762553	37762553	+	Silent	SNP	C	C	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr17:37762553C>A	ENST00000302584.4	-	2	520	c.300G>T	c.(298-300)cgG>cgT	p.R100R		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	100					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			GCTTCTTGGGCCGCTCGCCCT	0.677													6	5	---	---	---	---	0	0
KLHL10	317719	broad.mit.edu	37	17	40001966	40001966	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr17:40001966G>A	ENST00000293303.4	+	3	1426	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	425						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				ACAGAGGAGTGATGCAAGCGC	0.493													34	39	---	---	---	---	0	0
EFTUD2	9343	broad.mit.edu	37	17	42953449	42953449	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr17:42953449C>T	ENST00000426333.2	-	10	1019	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	EFTUD2_ENST00000591382.1_Missense_Mutation_p.R241Q|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R231Q|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R206Q	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	241						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTTGATCAGCCGCTCTGTGTT	0.507													4	136	---	---	---	---	0	0
WDR7	23335	broad.mit.edu	37	18	54547218	54547218	+	Silent	SNP	T	T	C			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr18:54547218T>C	ENST00000254442.3	+	21	3559	c.3348T>C	c.(3346-3348)tcT>tcC	p.S1116S	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.S1083S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1116										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTTCTACATCTTACGAGGAAA	0.363													19	38	---	---	---	---	0	0
CYTH4	27128	broad.mit.edu	37	22	37707052	37707052	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr22:37707052C>T	ENST00000248901.6	+	10	1019	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	278	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GACGTGGAAACGGCGCTGGTT	0.642													24	94	---	---	---	---	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092723	202092723	+	Splice_Site	SNP	T	T	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr1:202092723T>C	ENST00000367282.5	+	1	736		c.e1+2			NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TTCATGGAGGTGAGTGTGTGT	0.512													17	28	---	---	---	---	0	0
CEP170	9859	broad.mit.edu	37	1	243362462	243362462	+	Silent	SNP	A	A	G			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr1:243362462A>G	ENST00000366542.1	-	7	582	c.531T>C	c.(529-531)taT>taC	p.Y177Y	CEP170_ENST00000366544.1_Silent_p.Y177Y|CEP170_ENST00000366543.1_Silent_p.Y177Y	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	177						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ACGGCTGCCCATATAATGGAG	0.428													3	20	---	---	---	---	0	0
GPAT2	150763	broad.mit.edu	37	2	96689180	96689180	+	Silent	SNP	G	G	A			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr2:96689180G>A	ENST00000434632.1	-	19	2364	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	GPAT2_ENST00000359548.4_Silent_p.G635G|GPAT2_ENST00000453542.1_Silent_p.G564G|GPAT2_ENST00000377137.3_Intron			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	635					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGGCCGGGAGCCTGGGGTCT	0.567													6	38	---	---	---	---	0	0
IL36B	27177	broad.mit.edu	37	2	113783764	113783764	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr2:113783764G>T	ENST00000259213.4	-	5	414	c.307C>A	c.(307-309)Cta>Ata	p.L103I		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	103					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						attccaactagtttccagcaa	0.463													18	29	---	---	---	---	0	0
ZNF713	349075	broad.mit.edu	37	7	56007346	56007346	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr7:56007346T>G	ENST00000429591.2	+	4	978	c.940T>G	c.(940-942)Tca>Gca	p.S314A	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCGTCAGCATTCATCCTTTAC	0.403													40	62	---	---	---	---	0	0
RP1	6101	broad.mit.edu	37	8	55537905	55537905	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr8:55537905A>C	ENST00000220676.1	+	4	1611	c.1463A>C	c.(1462-1464)gAa>gCa	p.E488A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	488					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATAGTGAAGAAAGGGAAAGT	0.363													16	28	---	---	---	---	0	0
PTPRD	5789	broad.mit.edu	37	9	8460280	8460280	+	Splice_Site	SNP	T	T	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr9:8460280T>C	ENST00000537002.1	-	16	2736	c.2634A>G	c.(2632-2634)agA>agG	p.R878R	PTPRD_ENST00000381196.4_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron			P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1292	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAAACACTTTTCCAAAAATAA	0.328										TSP Lung(15;0.13)			6	7	---	---	---	---	0	0
CDH23	64072	broad.mit.edu	37	10	73558936	73558936	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr10:73558936T>C	ENST00000224721.6	+	50	7143	c.7138T>C	c.(7138-7140)Tca>Cca	p.S2380P	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.S135P	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2375	Cadherin 22.		P -> L (in dbSNP:rs4747195).		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGTGAGGGCCTCAGACAACGG	0.572													15	18	---	---	---	---	0	0
CDH23	64072	broad.mit.edu	37	10	73558937	73558937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr10:73558937C>A	ENST00000224721.6	+	50	7144	c.7139C>A	c.(7138-7140)tCa>tAa	p.S2380*	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Nonsense_Mutation_p.S135*	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2375	Cadherin 22.		P -> L (in dbSNP:rs4747195).		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGAGGGCCTCAGACAACGGG	0.572													15	18	---	---	---	---	0	0
BMPR1A	657	broad.mit.edu	37	10	88676986	88676986	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr10:88676986A>T	ENST00000372037.3	+	9	1308	c.771A>T	c.(769-771)aaA>aaT	p.K257N		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA		Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GTGGCGAAAAAGTGGCGGTGA	0.453			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				8	20	---	---	---	---	0	0
COL17A1	1308	broad.mit.edu	37	10	105832989	105832989	+	Nonsense_Mutation	SNP	T	T	A			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr10:105832989T>A	ENST00000353479.5	-	7	684	c.394A>T	c.(394-396)Aga>Tga	p.R132*	COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R132*|COL17A1_ENST00000393211.3_Nonsense_Mutation_p.R132*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	132	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTCCGTCCTCTGGTTGAAGAA	0.418													7	159	---	---	---	---	0	0
BEST1	7439	broad.mit.edu	37	11	61730330	61730330	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr11:61730330A>C	ENST00000449131.2	+	9	1610	c.1524A>C	c.(1522-1524)aaA>aaC	p.K508N	BEST1_ENST00000378042.3_Missense_Mutation_p.K481N|BEST1_ENST00000378043.4_Missense_Mutation_p.K568N|BEST1_ENST00000301774.9_Missense_Mutation_p.K196N|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	568					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTACACTCAAAGATCACATGG	0.502													10	22	---	---	---	---	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278687	130278687	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr11:130278687G>T	ENST00000257359.6	-	7	2605	c.1899C>A	c.(1897-1899)agC>agA	p.S633R		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	633	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTTTGAACTCGCTCCTCCCCC	0.642													30	72	---	---	---	---	0	0
NOS1	4842	broad.mit.edu	37	12	117696254	117696254	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr12:117696254C>T	ENST00000317775.6	-	16	3164	c.2479G>A	c.(2479-2481)Ggc>Agc	p.G827S	NOS1_ENST00000338101.4_Missense_Mutation_p.G827S|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	827	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAAGCACAGCCGAATTTCTGG	0.507													11	17	---	---	---	---	0	0
USP12	219333	broad.mit.edu	37	13	27745742	27745742	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr13:27745742G>A	ENST00000282344.6	-	1	291	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	12					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GGTACAGATGGAGGCGAATTT	0.721													8	7	---	---	---	---	0	0
DAAM1	23002	broad.mit.edu	37	14	59797408	59797408	+	Splice_Site	SNP	T	T	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr14:59797408T>C	ENST00000395125.1	+	12	1583		c.e12+2		DAAM1_ENST00000360909.3_Splice_Site|DAAM1_ENST00000351081.1_Splice_Site	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1						actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTCAGCAGGGTGAGGTCTTCC	0.512													9	10	---	---	---	---	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59942682	59942682	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr14:59942682C>T	ENST00000247194.4	-	4	957	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A111T	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		TACTGTAAGGCAATTCGGGCT	0.458													19	25	---	---	---	---	0	0
PDPR	55066	broad.mit.edu	37	16	70187414	70187414	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr16:70187414G>C	ENST00000288050.4	+	18	3130	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	PDPR_ENST00000568530.1_Missense_Mutation_p.D725H|PDPR_ENST00000567046.1_Missense_Mutation_p.D83H|PDPR_ENST00000542659.1_Missense_Mutation_p.D70H|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000398122.3_Missense_Mutation_p.D625H	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	725					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGGGGTCAGGATATAAATAA	0.478													5	8	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696450	47696450	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr17:47696450A>G	ENST00000393331.3	-	7	843	c.373T>C	c.(373-375)Ttt>Ctt	p.F125L	SPOP_ENST00000504102.1_Missense_Mutation_p.F125L|SPOP_ENST00000347630.2_Missense_Mutation_p.F125L|SPOP_ENST00000503676.1_Missense_Mutation_p.F125L|SPOP_ENST00000393328.2_Missense_Mutation_p.F125L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	125	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F125V(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCTTGCACAAACCTATATGCC	0.433										Prostate(2;0.17)			36	46	---	---	---	---	0	0
C19orf24	55009	broad.mit.edu	37	19	1279101	1279101	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr19:1279101C>T	ENST00000469144.1	+	3	601	c.292C>T	c.(292-294)Ctc>Ttc	p.L98F	C19orf24_ENST00000409293.4_3'UTR			Q9BVV8	CS024_HUMAN	chromosome 19 open reading frame 24	39						cytoplasm|extracellular region part|integral to membrane							Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACTTGTGCCTCTCTCCTGC	0.667													16	34	---	---	---	---	0	0
HIPK4	147746	broad.mit.edu	37	19	40890039	40890039	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr19:40890039T>G	ENST00000291823.2	-	2	757	c.473A>C	c.(472-474)gAc>gCc	p.D158A		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	158	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGATCCGAAGTCAATCACCTG	0.637													15	26	---	---	---	---	0	0
PSG3	5671	broad.mit.edu	37	19	43237164	43237164	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr19:43237164C>T	ENST00000327495.5	-	3	665	c.481G>A	c.(481-483)Gac>Aac	p.D161N	PSG3_ENST00000595140.1_Missense_Mutation_p.D161N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	161	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.D161N(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCCTCCATGTCCTCCCTGGGG	0.537													4	126	---	---	---	---	0	0
FRG1B	0	broad.mit.edu	37	20	29628268	29628268	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr20:29628268A>T	ENST00000278882.3	+	6	650	c.270A>T	c.(268-270)agA>agT	p.R90S	FRG1B_ENST00000358464.4_Missense_Mutation_p.R90S|FRG1B_ENST00000439954.2_Missense_Mutation_p.R95S																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCTTTATTAGATGCAATGAAG	0.358													4	73	---	---	---	---	0	0
ELF4	2000	broad.mit.edu	37	X	129208569	129208569	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chrX:129208569A>C	ENST00000308167.5	-	3	613	c.234T>G	c.(232-234)agT>agG	p.S78R	ELF4_ENST00000335997.7_Missense_Mutation_p.S78R	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	78					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCAGCAAAAAACTGCCTTCCA	0.517			T	ERG	AML								23	5	---	---	---	---	0	0
POLR1B	84172	broad.mit.edu	37	2	113300244	113300244	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:113300244T>A	ENST00000263331.5	+	1	753	c.173T>A	c.(172-174)gTg>gAg	p.V58E	POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000417433.2_Missense_Mutation_p.V58E|POLR1B_ENST00000541869.1_Missense_Mutation_p.V96E|POLR1B_ENST00000409894.3_Missense_Mutation_p.V58E	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	58					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGCCTCGCGGTGCAGGTGAGC	0.677													4	7	---	---	---	---	0	0
FARP2	9855	broad.mit.edu	37	2	242373718	242373718	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:242373718G>A	ENST00000264042.3	+	10	1183	c.1013G>A	c.(1012-1014)gGc>gAc	p.G338D	FARP2_ENST00000373287.4_Missense_Mutation_p.G338D|FARP2_ENST00000545004.1_Missense_Mutation_p.G338D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	338					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTCAGCCGGGGCTCCTCCTTC	0.463													4	41	---	---	---	---	0	0
DCHS2	54798	broad.mit.edu	37	4	155157233	155157233	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr4:155157233T>A	ENST00000357232.4	-	25	7205	c.7206A>T	c.(7204-7206)aaA>aaT	p.K2402N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTGCATCACCTTTGTCTTTGG	0.428													6	95	---	---	---	---	0	0
TNXB	7148	broad.mit.edu	37	6	32063700	32063700	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr6:32063700C>T	ENST00000375244.3	-	3	2131	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S	TNXB_ENST00000479795.1_Missense_Mutation_p.G644S|TNXB_ENST00000375247.2_Missense_Mutation_p.G644S			P22105	TENX_HUMAN	tenascin XB	644	EGF-like 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGTAGGGCCGGTGTAGCCT	0.687													8	11	---	---	---	---	0	0
MOGAT2	80168	broad.mit.edu	37	11	75438518	75438518	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:75438518C>A	ENST00000526712.1	+	2	836	c.63C>A	c.(61-63)taC>taA	p.Y21*	MOGAT2_ENST00000198801.5_Nonsense_Mutation_p.Y103*			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	103					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CTCGGAACTACATTGCGGGCT	0.632													3	33	---	---	---	---	0	0
HSPA8	3312	broad.mit.edu	37	11	122930969	122930969	+	Missense_Mutation	SNP	G	G	T	rs141156763	by1000genomes	TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:122930969G>T	ENST00000534624.1	-	4	695	c.419C>A	c.(418-420)aCc>aAc	p.T140N	HSPA8_ENST00000227378.3_Missense_Mutation_p.T140N|HSPA8_ENST00000526110.1_Intron|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.T140N|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.T140N	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	140					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACAGCATTGGTAACAGTCTA	0.393													8	77	---	---	---	---	0	0
PRPF40B	25766	broad.mit.edu	37	12	50025308	50025308	+	Missense_Mutation	SNP	C	C	T	rs149751647		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr12:50025308C>T	ENST00000261897.1	+	2	676	c.125C>T	c.(124-126)gCg>gTg	p.A42V	PRPF40B_ENST00000380281.1_Missense_Mutation_p.A48V|PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	48	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAATGGGGGCGCCACCACCA	0.612													14	50	---	---	---	---	0	0
IGHV1-58	0	broad.mit.edu	37	14	107078510	107078510	+	RNA	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr14:107078510C>T	ENST00000390628.2	-	0	274																											CCACTGCCAACGACGATCCAT	0.532													25	90	---	---	---	---	0	0
IVD	3712	broad.mit.edu	37	15	40707600	40707600	+	Splice_Site	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr15:40707600G>A	ENST00000249760.2	+	9	1222	c.879G>A	c.(877-879)ggG>ggA	p.G293G	IVD_ENST00000479013.2_Splice_Site_p.G266G|IVD_ENST00000487418.2_Splice_Site_p.G296G	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	293					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		TTTCTGACAGGCTCATGCAAG	0.602													3	28	---	---	---	---	0	0
MYH4	4622	broad.mit.edu	37	17	10369613	10369613	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:10369613G>A	ENST00000255381.2	-	4	435	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	109	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGCGTAACGCTCTTTGAGG	0.458													3	56	---	---	---	---	0	0
ABCA7	10347	broad.mit.edu	37	19	1043361	1043361	+	Silent	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr19:1043361C>T	ENST00000263094.6	+	9	1050	c.819C>T	c.(817-819)gcC>gcT	p.A273A	ABCA7_ENST00000433129.1_Silent_p.A273A|ABCA7_ENST00000435683.2_Silent_p.A135A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	273					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATTGGAGCCCTGGACAGCC	0.642													12	37	---	---	---	---	0	0
FAM217B	63939	broad.mit.edu	37	20	58519366	58519366	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr20:58519366A>G	ENST00000358293.3	+	5	783	c.368A>G	c.(367-369)gAt>gGt	p.D123G	FAM217B_ENST00000360816.3_Missense_Mutation_p.D123G|FAM217B_ENST00000469084.1_Intron	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	123																	GAAGAAATTGATCCAGTTTAC	0.458													27	46	---	---	---	---	0	0
ARSE	415	broad.mit.edu	37	X	2856153	2856153	+	Silent	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chrX:2856153G>A	ENST00000545496.1	-	10	1638	c.1347C>T	c.(1345-1347)ggC>ggT	p.G449G	ARSE_ENST00000540563.1_Silent_p.G379G|ARSE_ENST00000381134.3_Silent_p.G424G	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	424					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGCACCTCGCCGCCCGCCA	0.597													3	39	---	---	---	---	0	0
OR6N1	128372	broad.mit.edu	37	1	158735834	158735834	+	Silent	SNP	C	C	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:158735834C>A	ENST00000335094.2	-	1	658	c.639G>T	c.(637-639)ctG>ctT	p.L213L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGCAGAGGATCAGCAGGAAGG	0.498													7	108	---	---	---	---	0	0
CACNA1S	779	broad.mit.edu	37	1	201044699	201044699	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:201044699G>C	ENST00000362061.3	-	13	2098	c.1872C>G	c.(1870-1872)atC>atG	p.I624M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I624M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	624					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGTAGGCCATGATCCCATTGT	0.547													18	61	---	---	---	---	0	0
CACNA1S	779	broad.mit.edu	37	1	201046060	201046060	+	Silent	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:201046060G>A	ENST00000362061.3	-	12	2041	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	CACNA1S_ENST00000367338.3_Silent_p.I605I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	605					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ggaagacgctgatgagggCTT	0.542													26	34	---	---	---	---	0	0
CACNA1S	779	broad.mit.edu	37	1	201046222	201046222	+	Silent	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr1:201046222G>A	ENST00000362061.3	-	12	1879	c.1653C>T	c.(1651-1653)tcC>tcT	p.S551S	CACNA1S_ENST00000367338.3_Silent_p.S551S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	551					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTTGAGCAGGGATGCCACCA	0.607													13	33	---	---	---	---	0	0
ABHD1	84696	broad.mit.edu	37	2	27351917	27351917	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr2:27351917T>G	ENST00000316470.4	+	3	494	c.380T>G	c.(379-381)cTg>cGg	p.L127R		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	127						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTGTGCTGCTGCTTCCTGGC	0.567													11	28	---	---	---	---	0	0
NYAP2	57624	broad.mit.edu	37	2	226447087	226447087	+	Silent	SNP	G	G	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr2:226447087G>T	ENST00000272907.6	+	4	1367	c.954G>T	c.(952-954)ctG>ctT	p.L318L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	318	Pro-rich.																CCAAGGGGCTGCTTTGCGACA	0.632													9	32	---	---	---	---	0	0
NT5DC2	64943	broad.mit.edu	37	3	52559262	52559262	+	Missense_Mutation	SNP	A	A	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:52559262A>T	ENST00000307076.4	-	11	1458	c.1058T>A	c.(1057-1059)gTg>gAg	p.V353E	NT5DC2_ENST00000307092.4_Missense_Mutation_p.V294E|NT5DC2_ENST00000422318.2_Missense_Mutation_p.V390E|NT5DC2_ENST00000459839.1_Missense_Mutation_p.V365E	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	353							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGTAGAGCACGCGGGGGCC	0.652													4	28	---	---	---	---	0	0
IMPG2	50939	broad.mit.edu	37	3	101023020	101023020	+	Silent	SNP	T	T	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:101023020T>C	ENST00000193391.7	-	3	658	c.471A>G	c.(469-471)gaA>gaG	p.E157E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	157					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTTCCACAGATTCACTAAAAT	0.408													15	76	---	---	---	---	0	0
FNDC3B	64778	broad.mit.edu	37	3	172096070	172096070	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:172096070A>G	ENST00000336824.4	+	24	3118	c.3019A>G	c.(3019-3021)Atc>Gtc	p.I1007V	FNDC3B_ENST00000415807.2_Missense_Mutation_p.I1007V|FNDC3B_ENST00000416957.1_Missense_Mutation_p.I1007V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1007	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GTTTATTTCAATCTACAGAGG	0.453													19	23	---	---	---	---	0	0
PEX5L	51555	broad.mit.edu	37	3	179605498	179605498	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr3:179605498C>T	ENST00000467460.1	-	4	603	c.273G>A	c.(271-273)tcG>tcA	p.S91S	PEX5L_ENST00000392649.3_Silent_p.S48S|PEX5L_ENST00000476138.1_Silent_p.S48S|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000485199.1_Silent_p.S56S|PEX5L_ENST00000263962.8_Silent_p.S89S|PEX5L_ENST00000472994.1_Silent_p.S32S|PEX5L_ENST00000464614.1_Silent_p.S48S|PEX5L_ENST00000465751.1_Silent_p.S67S|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	91					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTATTGCTTCCGATTTGGTTT	0.413													22	80	---	---	---	---	0	0
F11	2160	broad.mit.edu	37	4	187201491	187201491	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr4:187201491G>A	ENST00000264692.4	+	9	1157	c.824G>A	c.(823-825)tGc>tAc	p.C275Y	F11_ENST00000403665.2_Missense_Mutation_p.C327Y			P03951	FA11_HUMAN	coagulation factor XI	327	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCCGTCCGCTGCCAGTTTTTT	0.498													12	101	---	---	---	---	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097084	110097084	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr5:110097084C>T	ENST00000355943.3	+	8	985	c.859C>T	c.(859-861)Cta>Tta	p.L287L	SLC25A46_ENST00000509432.1_Silent_p.L74L|SLC25A46_ENST00000509442.2_Silent_p.L196L|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000513807.1_Silent_p.L125L|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Silent_p.L141L	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	287					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GAAGTTTGTCCTACTAATTCT	0.408													14	78	---	---	---	---	0	0
PCDHB2	0	broad.mit.edu	37	5	140475876	140475876	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr5:140475876C>T	ENST00000194155.4	+	1	1650	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCACCTGCCCCTCGCCTCC	0.692													8	122	---	---	---	---	0	0
ACTB	60	broad.mit.edu	37	7	5568828	5568828	+	Silent	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:5568828G>A	ENST00000331789.5	-	3	518	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	109					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGGGTTCAGGGGGGCCTCGG	0.647													10	38	---	---	---	---	0	0
THSD7A	221981	broad.mit.edu	37	7	11676141	11676141	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:11676141C>T	ENST00000423059.4	-	2	889	c.638G>A	c.(637-639)gGg>gAg	p.G213E		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTGCTGGAGCCCGCTGCCGCA	0.607										HNSCC(18;0.044)			23	19	---	---	---	---	0	0
KRIT1	889	broad.mit.edu	37	7	91830634	91830634	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:91830634A>C	ENST00000394507.1	-	19	2912	c.2129T>G	c.(2128-2130)gTa>gGa	p.V710G	KRIT1_ENST00000412043.2_Missense_Mutation_p.V710G|KRIT1_ENST00000394505.2_Missense_Mutation_p.V710G|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000340022.2_Missense_Mutation_p.V710G|KRIT1_ENST00000394503.2_Missense_Mutation_p.V662G	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	710	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	p.V710E(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTTGTATGTACTATAAAGCT	0.289													5	134	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151884803	151884803	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr7:151884803G>A	ENST00000355193.2	-	32	5008	c.4790C>T	c.(4789-4791)gCc>gTc	p.A1597V	KMT2C_ENST00000262189.6_Missense_Mutation_p.A1597V					lysine (K)-specific methyltransferase 2C																		CTTGTACCTGGCATCAGGATA	0.368													4	73	---	---	---	---	0	0
VPS13B	157680	broad.mit.edu	37	8	100789020	100789020	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr8:100789020G>C	ENST00000358544.2	+	41	7451	c.7340G>C	c.(7339-7341)gGt>gCt	p.G2447A	VPS13B_ENST00000357162.2_Missense_Mutation_p.G2422A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2447					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGAGTCTGGTTCTCAAAGC	0.428													39	45	---	---	---	---	0	0
YME1L1	10730	broad.mit.edu	37	10	27436406	27436406	+	Silent	SNP	T	T	C			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr10:27436406T>C	ENST00000477432.1	-	3	1415	c.360A>G	c.(358-360)caA>caG	p.Q120Q	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000326799.3_Intron|YME1L1_ENST00000376016.3_Intron			Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	0					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAATAGGCATTTGGAGAAACC	0.463													3	15	---	---	---	---	0	0
CPN1	1369	broad.mit.edu	37	10	101802208	101802208	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr10:101802208C>T	ENST00000370418.3	-	9	1604	c.1353G>A	c.(1351-1353)agG>agA	p.R451R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	451					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TCTGCAGCTGCCTCATCTCCA	0.532													9	55	---	---	---	---	0	0
GPR84	0	broad.mit.edu	37	12	54756711	54756711	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr12:54756711C>A	ENST00000551809.1	-	1	1560	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.D309Y|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	309						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GATGAAGAATCCGGAGCTCTT	0.498													19	94	---	---	---	---	0	0
COG3	83548	broad.mit.edu	37	13	46050413	46050413	+	Silent	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr13:46050413A>G	ENST00000349995.5	+	2	364	c.252A>G	c.(250-252)acA>acG	p.T84T		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	84					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTGAATCTACAGAAGACATTC	0.408													3	32	---	---	---	---	0	0
BTBD1	53339	broad.mit.edu	37	15	83710528	83710528	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr15:83710528G>A	ENST00000261721.4	-	4	1016	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F	BTBD1_ENST00000379403.2_Missense_Mutation_p.L272F|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	272						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATTAAGGAAAGTGCTTTTCCT	0.388													23	93	---	---	---	---	0	0
C16orf59	80178	broad.mit.edu	37	16	2512433	2512433	+	Silent	SNP	C	C	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:2512433C>T	ENST00000569496.1	+	7	827	c.768C>T	c.(766-768)ccC>ccT	p.P256P	C16orf59_ENST00000563531.1_Silent_p.P256P|C16orf59_ENST00000361837.4_Silent_p.P256P|C16orf59_ENST00000483320.1_Silent_p.P89P			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	256										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGCCCCAGCCCAGGCTCAGTG	0.682													3	22	---	---	---	---	0	0
SF3B3	23450	broad.mit.edu	37	16	70569246	70569246	+	Missense_Mutation	SNP	A	A	T			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr16:70569246A>T	ENST00000302516.5	+	6	959	c.748A>T	c.(748-750)Atc>Ttc	p.I250F		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	250					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGAGTACTGATCTGCTCTGA	0.418													6	190	---	---	---	---	0	0
PER1	5187	broad.mit.edu	37	17	8045265	8045265	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr17:8045265G>A	ENST00000317276.4	-	22	3695	c.3458C>T	c.(3457-3459)aCc>aTc	p.T1153I	PER1_ENST00000581082.1_Missense_Mutation_p.T1130I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1153	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGCACAGAGGTCATGTCCCT	0.622			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					5	40	---	---	---	---	0	0
AKAP1	8165	broad.mit.edu	37	17	55197639	55197639	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr17:55197639A>G	ENST00000337714.3	+	11	2899	c.2666A>G	c.(2665-2667)gAg>gGg	p.E889G	AKAP1_ENST00000572557.1_Missense_Mutation_p.E889G|AKAP1_ENST00000539273.1_Missense_Mutation_p.E889G|AKAP1_ENST00000571629.1_Missense_Mutation_p.E889G	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	889					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCCCTGGTGGAGCGAGGCCTT	0.512													19	16	---	---	---	---	0	0
AFG3L2	10939	broad.mit.edu	37	18	12360038	12360038	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr18:12360038A>G	ENST00000269143.3	-	7	871	c.640T>C	c.(640-642)Ttt>Ctt	p.F214L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	214					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CCAATATTAAACCAAACGTAT	0.353													10	39	---	---	---	---	0	0
NAGA	4668	broad.mit.edu	37	22	42461779	42461779	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A875-01A-31D-A34U-08	TCGA-VP-A875-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5f978ce-bc06-49da-99f3-b9064fdbe024	2e305204-80d3-4c7c-b416-3ceb01e18ae0	g.chr22:42461779G>A	ENST00000396398.3	-	6	1254	c.722C>T	c.(721-723)cCa>cTa	p.P241L	NAGA_ENST00000402937.1_Missense_Mutation_p.P241L|NAGA_ENST00000403363.1_Missense_Mutation_p.P241L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	241					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GCCGGCCACTGGCTGCAGTAT	0.597													4	37	---	---	---	---	0	0
VPS13D	55187	broad.mit.edu	37	1	12446347	12446347	+	Missense_Mutation	SNP	A	A	G	rs144706588		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr1:12446347A>G	ENST00000358136.3	+	60	11718	c.11588A>G	c.(11587-11589)cAg>cGg	p.Q3863R	VPS13D_ENST00000356315.4_Missense_Mutation_p.Q3838R|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3862					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACTATACACAGCTGGCAACC	0.438													27	51	---	---	---	---	0	0
RETSAT	54884	broad.mit.edu	37	2	85570403	85570403	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr2:85570403G>A	ENST00000295802.4	-	11	1907	c.1795C>T	c.(1795-1797)Ctt>Ttt	p.L599F	RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.L538F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	599					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTAGAATCAAGATTCTTAAGG	0.532													4	88	---	---	---	---	0	0
SCN5A	6331	broad.mit.edu	37	3	38591846	38591846	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr3:38591846G>T	ENST00000413689.1	-	28	6210	c.6017C>A	c.(6016-6018)cCt>cAt	p.P2006H	SCN5A_ENST00000333535.4_Missense_Mutation_p.P2006H|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000423572.2_Missense_Mutation_p.P2005H|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1988H|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1973H|SCN5A_ENST00000443581.1_Missense_Mutation_p.P2005H|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1988H|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1952H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	2006			P -> A (in LQT3; causes an increase of persistent sodium current and produces a depolarizing shift in voltage dependence of inactivation).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTCCGGAGAAGGGGGGAAGTC	0.577													5	43	---	---	---	---	0	0
HSPA1L	0	broad.mit.edu	37	6	31778218	31778218	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr6:31778218C>T	ENST00000375654.4	-	2	1721	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.R511H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	511					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTGCTCAGGCGGCCCTTGTC	0.483													5	171	---	---	---	---	0	0
YAE1D1	57002	broad.mit.edu	37	7	39606042	39606042	+	Silent	SNP	T	T	C			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr7:39606042T>C	ENST00000432096.2	+	1	38	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	YAE1D1_ENST00000448268.1_Silent_p.L9L|YAE1D1_ENST00000223273.2_Silent_p.L9L	NM_001282446.1	NP_001269375.1	Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	9																	AGCAGCCTCCTTGATCCAGGG	0.607													8	33	---	---	---	---	0	0
COL14A1	7373	broad.mit.edu	37	8	121237425	121237425	+	Silent	SNP	A	A	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr8:121237425A>T	ENST00000297848.3	+	15	2106	c.1836A>T	c.(1834-1836)tcA>tcT	p.S612S	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.S517S|COL14A1_ENST00000309791.4_Silent_p.S612S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	612	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGACAGTCAGAGCCTCTGA	0.418													37	38	---	---	---	---	0	0
DMRT2	10655	broad.mit.edu	37	9	1057164	1057164	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr9:1057164T>C	ENST00000382251.3	+	5	1906	c.1577T>C	c.(1576-1578)tTt>tCt	p.F526S	DMRT2_ENST00000358146.2_Missense_Mutation_p.F526S|DMRT2_ENST00000302441.6_Missense_Mutation_p.F526S|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	526					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AAAGACCTTTTTGTAGCCAAA	0.403													52	57	---	---	---	---	0	0
GABBR2	9568	broad.mit.edu	37	9	101133846	101133846	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr9:101133846G>A	ENST00000259455.2	-	12	2129	c.1670C>T	c.(1669-1671)aCc>aTc	p.T557I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	557					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GAGAATCCAGGTCCTGACCTA	0.488													10	17	---	---	---	---	0	0
BMI1	648	broad.mit.edu	37	10	22615874	22615874	+	Nonsense_Mutation	SNP	T	T	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr10:22615874T>A	ENST00000376663.3	+	3	673	c.168T>A	c.(166-168)tgT>tgA	p.C56*	COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.C199*	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTCCTATTTGTGATGTCCAAG	0.338													73	127	---	---	---	---	0	0
TMEM180	79847	broad.mit.edu	37	10	104232673	104232673	+	Silent	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr10:104232673C>T	ENST00000238936.4	+	7	1128	c.891C>T	c.(889-891)gaC>gaT	p.D297D	TMEM180_ENST00000366277.2_Silent_p.D26D	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	297						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTTGTCCGACCATATCTCCC	0.532													8	112	---	---	---	---	0	0
OR5A1	219982	broad.mit.edu	37	11	59211176	59211176	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr11:59211176C>T	ENST00000302030.2	+	1	560	c.535C>T	c.(535-537)Cac>Tac	p.H179Y		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CATCATCAACCACTTCTTCTG	0.542													89	156	---	---	---	---	0	0
NALCN	259232	broad.mit.edu	37	13	101890183	101890183	+	Missense_Mutation	SNP	A	A	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr13:101890183A>T	ENST00000251127.6	-	12	1438	c.1357T>A	c.(1357-1359)Ttc>Atc	p.F453I	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.F453I	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	453						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTAGTTCGAATTTGTGGAGA	0.348													4	172	---	---	---	---	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485243	31485243	+	Silent	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr16:31485243C>T	ENST00000394863.3	+	4	400	c.270C>T	c.(268-270)ctC>ctT	p.L90L	TGFB1I1_ENST00000567607.1_Silent_p.L73L|TGFB1I1_ENST00000361773.3_Silent_p.L73L|TGFB1I1_ENST00000394858.2_Silent_p.L73L	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	90	Interaction with PTK2 (By similarity).|Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GTACCGGGCTCTGTGAGCTAG	0.597													7	87	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7577126	7577126	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr17:7577126T>A	ENST00000420246.2	-	8	944	c.812A>T	c.(811-813)gAg>gTg	p.E271V	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E271V|TP53_ENST00000359597.4_Missense_Mutation_p.E271V|TP53_ENST00000445888.2_Missense_Mutation_p.E271V|TP53_ENST00000269305.4_Missense_Mutation_p.E271V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E271V(6)|p.E271G(3)|p.?(2)|p.E271fs*74(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.E271*(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271_R273delEVR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AACACGCACCTCAAAGCTGTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	3	---	---	---	---	0	0
KRT19	3880	broad.mit.edu	37	17	39680513	39680513	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr17:39680513T>A	ENST00000361566.3	-	5	890	c.830A>T	c.(829-831)gAa>gTa	p.E277V		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CCGGTTCAATTCTTCAGTCTG	0.572													4	45	---	---	---	---	0	0
PLCB4	5332	broad.mit.edu	37	20	9402051	9402051	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr20:9402051G>C	ENST00000378501.2	+	23	2241	c.2226G>C	c.(2224-2226)atG>atC	p.M742I	PLCB4_ENST00000414679.2_Missense_Mutation_p.M754I|PLCB4_ENST00000378473.3_Missense_Mutation_p.M754I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.M742I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M742I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M742I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	742	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAACTCGCATGGTTATGAATA	0.403													6	91	---	---	---	---	0	0
SPECC1L	23384	broad.mit.edu	37	22	24761555	24761555	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr22:24761555C>T	ENST00000314328.9	+	13	3224	c.2939C>T	c.(2938-2940)tCt>tTt	p.S980F	SPECC1L_ENST00000541492.1_Missense_Mutation_p.S980F|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S980F	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	980					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TCCCTGTCCTCTTCTCCAACG	0.512													10	85	---	---	---	---	0	0
LARGE	9215	broad.mit.edu	37	22	34046652	34046652	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr22:34046652C>T	ENST00000354992.2	-	4	680	c.109G>A	c.(109-111)Gga>Aga	p.G37R	LARGE_ENST00000402320.1_Missense_Mutation_p.G37R|LARGE_ENST00000337431.2_Missense_Mutation_p.G37R|LARGE_ENST00000437602.2_Missense_Mutation_p.G37R|LARGE_ENST00000397394.2_Missense_Mutation_p.G37R	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	37					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ACGGGCTTTCCATCTGGGGAG	0.617													5	28	---	---	---	---	0	0
FIGF	2277	broad.mit.edu	37	X	15373392	15373392	+	Missense_Mutation	SNP	G	G	A	rs143510014		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chrX:15373392G>A	ENST00000297904.3	-	4	950	c.521C>T	c.(520-522)tCa>tTa	p.S174L		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	174					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTCAGGTACTGATGTCAAAGG	0.368													5	46	---	---	---	---	0	0
ZNF182	7569	broad.mit.edu	37	X	47835730	47835730	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chrX:47835730T>C	ENST00000396965.1	-	7	2106	c.1756A>G	c.(1756-1758)Act>Gct	p.T586A	ZNF182_ENST00000305127.6_Missense_Mutation_p.T586A|ZNF182_ENST00000376943.3_Missense_Mutation_p.T567A	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGATGTACAGTGAATGTTGAC	0.428													13	54	---	---	---	---	0	0
NPHP4	261734	broad.mit.edu	37	1	5940290	5940290	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:5940290C>T	ENST00000378156.4	-	19	2760	c.2495G>A	c.(2494-2496)tGt>tAt	p.C832Y	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	832					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTGTTCACACGGGTGACC	0.507													5	23	---	---	---	---	0	0
CDC20	991	broad.mit.edu	37	1	43828701	43828701	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:43828701G>A	ENST00000372462.1	+	10	1604	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	CDC20_ENST00000310955.6_Silent_p.L467L			Q12834	CDC20_HUMAN	cell division cycle 20	467					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGAGACCCTGAGGCTATGGC	0.607													22	58	---	---	---	---	0	0
DPYD	1806	broad.mit.edu	37	1	97700433	97700433	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:97700433A>G	ENST00000370192.3	-	19	2517	c.2417T>C	c.(2416-2418)cTc>cCc	p.L806P	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	806					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACCACTATGGAGAAACTGAAG	0.433													6	15	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158606472	158606472	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:158606472G>A	ENST00000368147.4	-	37	5449	c.5269C>T	c.(5269-5271)Cgc>Tgc	p.R1757C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1757C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCTCTAGGCGTTTGTGCTTC	0.473													21	83	---	---	---	---	0	0
HMCN1	83872	broad.mit.edu	37	1	186097410	186097410	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr1:186097410C>A	ENST00000271588.4	+	83	13120	c.12891C>A	c.(12889-12891)aaC>aaA	p.N4297K	HMCN1_ENST00000367492.2_Missense_Mutation_p.N4297K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4297	Ig-like C2-type 42.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTTCAATAACAATATTATTC	0.368													9	37	---	---	---	---	0	0
AGPS	8540	broad.mit.edu	37	2	178402827	178402827	+	Silent	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr2:178402827A>G	ENST00000264167.4	+	20	2027	c.1881A>G	c.(1879-1881)ctA>ctG	p.L627L	AGPS_ENST00000409888.1_Silent_p.L158L	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	627					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AGCAATGGCTAAAGGAAAGTA	0.393													20	79	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179629396	179629396	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr2:179629396G>A	ENST00000589042.1	-	42	10070	c.9846C>T	c.(9844-9846)ggC>ggT	p.G3282G	TTN_ENST00000360870.5_Silent_p.G3282G|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G3282G|TTN_ENST00000342175.6_Silent_p.G3236G|TTN_ENST00000359218.5_Silent_p.G3236G|TTN_ENST00000591111.1_Silent_p.G3282G|TTN_ENST00000460472.2_Silent_p.G3236G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3011	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACTTGAAGCCAGTGGAAA	0.502													27	124	---	---	---	---	0	0
ARAP2	116984	broad.mit.edu	37	4	36130197	36130197	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr4:36130197G>A	ENST00000303965.4	-	21	4087	c.3598C>T	c.(3598-3600)Ctg>Ttg	p.L1200L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1200	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAGTAAGCAGTGCATCATCA	0.383													13	44	---	---	---	---	0	0
TTC29	83894	broad.mit.edu	37	4	147628687	147628687	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr4:147628687G>A	ENST00000513335.1	-	13	1624	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	TTC29_ENST00000398886.4_Silent_p.S475S|TTC29_ENST00000325106.4_Silent_p.S449S			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	449							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTTCCACTGTGGATCCTCTAA	0.328													3	30	---	---	---	---	0	0
IL6ST	3572	broad.mit.edu	37	5	55248076	55248076	+	Splice_Site	SNP	A	A	C			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr5:55248076A>C	ENST00000381298.2	-	12	1865		c.e12+1		IL6ST_ENST00000381287.4_Splice_Site|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Splice_Site	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)						interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GTTTGGACTTACGAGCTTGTT	0.338			O		hepatocellular ca								14	43	---	---	---	---	0	0
BPHL	670	broad.mit.edu	37	6	3127486	3127486	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr6:3127486G>T	ENST00000380368.2	+	4	815	c.171G>T	c.(169-171)gaG>gaT	p.E57D	BPHL_ENST00000434640.1_Missense_Mutation_p.E57D|BPHL_ENST00000380375.3_Missense_Mutation_p.E57D|BPHL_ENST00000380379.5_Missense_Mutation_p.E74D			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	74					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GAAGTGGAGAGACTGATTTTG	0.473													10	39	---	---	---	---	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120756	12120756	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr6:12120756C>T	ENST00000379388.2	+	4	1060	c.728C>T	c.(727-729)gCc>gTc	p.A243V		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	243					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCAATGGATGCCCCAAATCAG	0.433													5	167	---	---	---	---	0	0
TRRAP	8295	broad.mit.edu	37	7	98515241	98515241	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:98515241A>G	ENST00000359863.4	+	20	2770	c.2561A>G	c.(2560-2562)gAc>gGc	p.D854G	TRRAP_ENST00000446306.3_Missense_Mutation_p.D853G|TRRAP_ENST00000355540.3_Missense_Mutation_p.D854G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	854					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGTGTGTGGACAACCTGCAG	0.572													10	40	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100677794	100677794	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:100677794C>T	ENST00000306151.4	+	3	3161	c.3097C>T	c.(3097-3099)Cca>Tca	p.P1033S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1033	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.507													5	508	---	---	---	---	0	0
SLC26A3	1811	broad.mit.edu	37	7	107431510	107431510	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:107431510G>A	ENST00000340010.5	-	5	737	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L150F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	185					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATTCCAGAAAGCACTGTGACT	0.493													6	28	---	---	---	---	0	0
PCDH15	65217	broad.mit.edu	37	10	55591154	55591154	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr10:55591154C>G	ENST00000373965.2	-	31	4538	c.4144G>C	c.(4144-4146)Ggg>Cgg	p.G1382R	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1375R|PCDH15_ENST00000409834.1_Missense_Mutation_p.G986R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1375R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1353R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1304R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1382R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1338R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1380R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1375R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1375					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACAAGGCCCCTTCTGTGTAT	0.493										HNSCC(58;0.16)			5	82	---	---	---	---	0	0
DNTT	1791	broad.mit.edu	37	10	98078274	98078274	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr10:98078274C>A	ENST00000419175.1	+	2	539	c.369C>A	c.(367-369)caC>caA	p.H123Q	DNTT_ENST00000371174.2_Missense_Mutation_p.H123Q	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	123	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAGGAAAACACCAGCTTGTTG	0.458													10	55	---	---	---	---	0	0
CHID1	66005	broad.mit.edu	37	11	884111	884111	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr11:884111C>A	ENST00000449825.1	-	9	1116	c.760G>T	c.(760-762)Gat>Tat	p.D254Y	CHID1_ENST00000436108.2_Missense_Mutation_p.D254Y|CHID1_ENST00000528581.1_Missense_Mutation_p.D279Y|CHID1_ENST00000454838.2_Missense_Mutation_p.D279Y|CHID1_ENST00000336845.5_Missense_Mutation_p.D279Y|CHID1_ENST00000323578.8_Missense_Mutation_p.D254Y|CHID1_ENST00000323541.7_Missense_Mutation_p.D284Y|CHID1_ENST00000429789.2_Missense_Mutation_p.D223Y|CHID1_ENST00000526714.1_Intron	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	254					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CTGAAACCATCCAGCACGGGG	0.597													12	50	---	---	---	---	0	0
OR5D13	390142	broad.mit.edu	37	11	55541365	55541365	+	Missense_Mutation	SNP	A	A	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr11:55541365A>T	ENST00000361760.1	+	1	452	c.452A>T	c.(451-453)tAt>tTt	p.Y151F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCTGGGTCCTATACATGGGGG	0.423													33	140	---	---	---	---	0	0
PKD1	5310	broad.mit.edu	37	16	2161025	2161025	+	Silent	SNP	G	G	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr16:2161025G>A	ENST00000262304.4	-	15	4351	c.4143C>T	c.(4141-4143)ggC>ggT	p.G1381G	PKD1_ENST00000423118.1_Silent_p.G1381G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1381	PKD 8.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGTGACGTTGCCCACCTCTG	0.667													9	49	---	---	---	---	0	0
MYH8	4626	broad.mit.edu	37	17	10302114	10302114	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:10302114G>C	ENST00000403437.2	-	29	4046	c.3952C>G	c.(3952-3954)Ctg>Gtg	p.L1318V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1318					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGATGTTTCAGCTCTTCAATC	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				13	56	---	---	---	---	0	0
DNAH9	1770	broad.mit.edu	37	17	11522871	11522871	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:11522871A>G	ENST00000262442.4	+	6	1191	c.1123A>G	c.(1123-1125)Aat>Gat	p.N375D	DNAH9_ENST00000454412.2_Missense_Mutation_p.N375D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCAGGCCTCTAATTATCTCAG	0.433													18	81	---	---	---	---	0	0
ATPAF2	91647	broad.mit.edu	37	17	17921927	17921927	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:17921927C>T	ENST00000474627.3	-	8	960	c.806G>A	c.(805-807)gGc>gAc	p.G269D	ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	269					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GAAGAGGGTGCCGGCGGCGGT	0.602													19	77	---	---	---	---	0	0
ARSF	416	broad.mit.edu	37	X	3002434	3002434	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chrX:3002434A>G	ENST00000381127.1	+	6	778	c.557A>G	c.(556-558)gAg>gGg	p.E186G	ARSF_ENST00000359361.2_Missense_Mutation_p.E186G|ARSF_ENST00000537104.1_Missense_Mutation_p.E186G	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	186						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTAGCCTTTGAGAGTCAGCTC	0.532													5	34	---	---	---	---	0	0
ATRX	546	broad.mit.edu	37	X	76855227	76855227	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chrX:76855227C>A	ENST00000373344.5	-	24	5974	c.5760G>T	c.(5758-5760)atG>atT	p.M1920I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M1882I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1920					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGCTTAAACTCATGGAGGTTT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						11	15	---	---	---	---	0	0
MIR429	0	broad.mit.edu	37	1	1104442	1104442	+	RNA	SNP	G	G	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:1104442G>T	ENST00000362106.1	+	0	58					NR_029957.1																						GTCTAATACTGTCTGGTAAAA	0.627													3	36	---	---	---	---	0	0
C1QC	714	broad.mit.edu	37	1	22973820	22973820	+	Silent	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:22973820G>A	ENST00000374639.3	+	3	400	c.282G>A	c.(280-282)ggG>ggA	p.G94G	C1QC_ENST00000374640.4_Silent_p.G94G|C1QC_ENST00000374637.1_Silent_p.G94G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	94	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACCCCCTGGGATGCCAGGGG	0.627													11	40	---	---	---	---	0	0
ASAP3	55616	broad.mit.edu	37	1	23782631	23782631	+	Silent	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:23782631G>A	ENST00000336689.3	-	2	230	c.186C>T	c.(184-186)atC>atT	p.I62I	ASAP3_ENST00000437606.2_Silent_p.I62I|ASAP3_ENST00000449467.2_5'UTR	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	62					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CGGAGCTATGGATTGCCCGCA	0.587													9	28	---	---	---	---	0	0
CACNA1E	777	broad.mit.edu	37	1	181725150	181725150	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:181725150C>T	ENST00000526775.1	+	28	4156	c.3991C>T	c.(3991-3993)Cgc>Tgc	p.R1331C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R957C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1301C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1282C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1350C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1331C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1350C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1350					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGAATGGAAGCGCCATGAATT	0.493													4	38	---	---	---	---	0	0
ASPM	259266	broad.mit.edu	37	1	197111887	197111887	+	Nonsense_Mutation	SNP	T	T	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:197111887T>A	ENST00000367409.4	-	3	1751	c.1495A>T	c.(1495-1497)Aaa>Taa	p.K499*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.K499*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	499					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCCTTCCTTTTAGTAACAGTG	0.358													5	163	---	---	---	---	0	0
TARBP1	6894	broad.mit.edu	37	1	234536985	234536985	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:234536985C>T	ENST00000040877.1	-	25	4012	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1338					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTCCTGAATGCGTTGCCAATT	0.358													6	23	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	141072599	141072599	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr2:141072599C>A	ENST00000389484.3	-	83	13681	c.12710G>T	c.(12709-12711)tGt>tTt	p.C4237F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4237	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAACAGTGACACCTCAAATC	0.383										TSP Lung(27;0.18)			4	77	---	---	---	---	0	0
YEATS2	55689	broad.mit.edu	37	3	183490196	183490196	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr3:183490196C>T	ENST00000305135.5	+	16	2246	c.2051C>T	c.(2050-2052)tCc>tTc	p.S684F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	684					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTTCTGTCTCCAAAGCAGTT	0.537													20	73	---	---	---	---	0	0
CNOT6L	246175	broad.mit.edu	37	4	78641641	78641641	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr4:78641641G>C	ENST00000504123.1	-	12	1742	c.1612C>G	c.(1612-1614)Ctc>Gtc	p.L538V	CNOT6L_ENST00000264903.4_Missense_Mutation_p.L538V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	538					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GGAGGGTGGAGTTCAAGTTGT	0.527													7	157	---	---	---	---	0	0
KIAA1109	84162	broad.mit.edu	37	4	123237982	123237982	+	Silent	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr4:123237982A>G	ENST00000264501.4	+	62	11008	c.10635A>G	c.(10633-10635)gaA>gaG	p.E3545E	KIAA1109_ENST00000388738.3_Silent_p.E3545E|KIAA1109_ENST00000455637.1_Silent_p.E3545E			Q2LD37	K1109_HUMAN	KIAA1109	3545					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATATCAGAGAACTGAATGAAC	0.353													4	48	---	---	---	---	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031999	26031999	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:26031999C>T	ENST00000244661.2	-	1	289	c.290G>A	c.(289-291)tGt>tAt	p.C97Y		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	97					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GTAGGCCTCACAAGCCTCCTG	0.577													5	70	---	---	---	---	0	0
GSTA3	2940	broad.mit.edu	37	6	52761716	52761716	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:52761716G>C	ENST00000211122.3	-	7	622	c.557C>G	c.(556-558)aCc>aGc	p.T186S	GSTA3_ENST00000370968.1_Missense_Mutation_p.T136S	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	186	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GCTGATTCTGGTTTTCAGGGC	0.517													13	104	---	---	---	---	0	0
SNAP91	9892	broad.mit.edu	37	6	84290295	84290295	+	Silent	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:84290295A>G	ENST00000428679.2	-	24	2766	c.2173T>C	c.(2173-2175)Ttg>Ctg	p.L725L	SNAP91_ENST00000520302.1_Silent_p.L695L|SNAP91_ENST00000439399.2_Silent_p.L725L|SNAP91_ENST00000195649.6_Silent_p.L720L|SNAP91_ENST00000369694.2_Silent_p.L725L|SNAP91_ENST00000437520.1_Silent_p.L418L|SNAP91_ENST00000521485.1_Silent_p.L720L|SNAP91_ENST00000521743.1_Silent_p.L725L|SNAP91_ENST00000520213.1_Silent_p.L418L			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	725					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTTGGCATCAAAAGATCACCT	0.433													8	46	---	---	---	---	0	0
CEP85L	387119	broad.mit.edu	37	6	118790275	118790275	+	Silent	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:118790275C>T	ENST00000368491.3	-	12	2835	c.2214G>A	c.(2212-2214)caG>caA	p.Q738Q	CEP85L_ENST00000368488.5_Silent_p.Q741Q	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	738						centrosome											GCTCCTTGCCCTGAGCACGCT	0.368													10	64	---	---	---	---	0	0
PKD1L1	168507	broad.mit.edu	37	7	47944821	47944821	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr7:47944821A>C	ENST00000289672.2	-	11	1674	c.1624T>G	c.(1624-1626)Ttt>Gtt	p.F542V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	542	PKD 1.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCTCTCCAAAATACCACTCA	0.438													20	89	---	---	---	---	0	0
ABCA13	154664	broad.mit.edu	37	7	48315425	48315425	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr7:48315425C>A	ENST00000435803.1	+	17	6186	c.6162C>A	c.(6160-6162)aaC>aaA	p.N2054K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2054					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACCTTACAACTTTGAAGAAC	0.343													4	32	---	---	---	---	0	0
COBL	23242	broad.mit.edu	37	7	51096535	51096535	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr7:51096535G>C	ENST00000395542.2	-	12	2688	c.2504C>G	c.(2503-2505)tCt>tGt	p.S835C	COBL_ENST00000265136.7_Missense_Mutation_p.S753C			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	753										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACAGACGAAGACAGGGAAAT	0.547													18	44	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100681373	100681373	+	Missense_Mutation	SNP	C	C	T	rs144624588		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr7:100681373C>T	ENST00000306151.4	+	3	6740	c.6676C>T	c.(6676-6678)Cct>Tct	p.P2226S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2226	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2226T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACAAGTATGCCTGTCAGCAC	0.502													5	636	---	---	---	---	0	0
TG	7038	broad.mit.edu	37	8	134030207	134030207	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr8:134030207G>C	ENST00000220616.4	+	38	6787	c.6747G>C	c.(6745-6747)ttG>ttC	p.L2249F	TG_ENST00000542445.1_Missense_Mutation_p.L619F|TG_ENST00000519543.1_Missense_Mutation_p.L382F|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.L2192F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2249					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGAGCCCTTGAACTGGACAG	0.552													14	30	---	---	---	---	0	0
PTPRD	5789	broad.mit.edu	37	9	8636728	8636728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr9:8636728C>A	ENST00000381196.4	-	10	724	c.181G>T	c.(181-183)Gga>Tga	p.G61*	PTPRD_ENST00000486161.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.G61*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000463477.1_Nonsense_Mutation_p.G61*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	61	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTTTCTTTCCTTTTTTGTTC	0.453										TSP Lung(15;0.13)			12	109	---	---	---	---	0	0
CYLC2	1539	broad.mit.edu	37	9	105767017	105767017	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr9:105767017C>A	ENST00000374798.3	+	4	291	c.221C>A	c.(220-222)cCa>cAa	p.P74Q	CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	74	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CGTAGACAACCATTATGGATG	0.378													17	50	---	---	---	---	0	0
EDF1	8721	broad.mit.edu	37	9	139760662	139760662	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr9:139760662G>T	ENST00000371648.4	-	1	56	c.49C>A	c.(49-51)Cct>Act	p.P17T	EDF1_ENST00000224073.1_Missense_Mutation_p.P17T|EDF1_ENST00000371649.1_Missense_Mutation_p.P17T	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	17					endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCGGCCGTAGGGCCCTTCTTG	0.731													5	22	---	---	---	---	0	0
DOCK1	1793	broad.mit.edu	37	10	129207655	129207655	+	Splice_Site	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr10:129207655G>A	ENST00000280333.6	+	42	4389	c.4280G>A	c.(4279-4281)aGt>aAt	p.S1427N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1427	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGATTGTAAGGTAATAATCC	0.448													6	56	---	---	---	---	0	0
OR5A1	219982	broad.mit.edu	37	11	59210893	59210893	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr11:59210893G>T	ENST00000302030.2	+	1	277	c.252G>T	c.(250-252)atG>atT	p.M84I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTCCCAATATGCTCACTGACT	0.478													5	104	---	---	---	---	0	0
C2CD5	9847	broad.mit.edu	37	12	22637658	22637658	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr12:22637658A>G	ENST00000333957.4	-	13	1778	c.1523T>C	c.(1522-1524)aTt>aCt	p.I508T	C2CD5_ENST00000446597.1_Missense_Mutation_p.I508T|C2CD5_ENST00000545552.1_Missense_Mutation_p.I521T|C2CD5_ENST00000536386.1_Missense_Mutation_p.I510T|C2CD5_ENST00000542676.1_Missense_Mutation_p.I508T|C2CD5_ENST00000396028.2_Missense_Mutation_p.I499T|C2CD5_ENST00000544930.1_Missense_Mutation_p.I323T	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		ACCTTTTCCAATAACTGTTGC	0.383													4	109	---	---	---	---	0	0
XPO4	64328	broad.mit.edu	37	13	21373356	21373356	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:21373356A>G	ENST00000400602.2	-	16	2305	c.2270T>C	c.(2269-2271)tTa>tCa	p.L757S	XPO4_ENST00000255305.6_Missense_Mutation_p.L757S	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	757					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAAACCTCCTAAGACTAGAGC	0.438													14	364	---	---	---	---	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329858	88329858	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:88329858C>T	ENST00000325089.6	+	2	2434	c.2215C>T	c.(2215-2217)Ccc>Tcc	p.P739S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P498S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	739						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCGCGCTGCCCAAGGTGAA	0.667													19	98	---	---	---	---	0	0
MCF2L	23263	broad.mit.edu	37	13	113738343	113738343	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:113738343G>T	ENST00000397030.1	+	18	2159	c.2122G>T	c.(2122-2124)Gac>Tac	p.D708Y	MCF2L_ENST00000423482.2_Missense_Mutation_p.D673Y|MCF2L_ENST00000375608.3_Missense_Mutation_p.D705Y|MCF2L_ENST00000375597.4_Missense_Mutation_p.D673Y|MCF2L_ENST00000442652.2_Missense_Mutation_p.D705Y|MCF2L_ENST00000375601.3_Missense_Mutation_p.D679Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.D681Y|MCF2L_ENST00000421756.1_Missense_Mutation_p.D679Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.D732Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.D675Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	705	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AAACTACACTGACTGCCCAGA	0.433													4	78	---	---	---	---	0	0
CDC16	8881	broad.mit.edu	37	13	115027372	115027372	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:115027372A>G	ENST00000360383.3	+	15	1523	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	CDC16_ENST00000252458.6_Missense_Mutation_p.D297G|CDC16_ENST00000375308.1_Missense_Mutation_p.D348G|CDC16_ENST00000375312.3_Missense_Mutation_p.D297G|CDC16_ENST00000252457.5_Missense_Mutation_p.D441G|CDC16_ENST00000375310.1_Missense_Mutation_p.D348G|CDC16_ENST00000356221.3_Missense_Mutation_p.D442G	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	442					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GTAACAGTTGACAAATGGGAA	0.378													5	80	---	---	---	---	0	0
THSD4	79875	broad.mit.edu	37	15	72037466	72037466	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr15:72037466G>A	ENST00000355327.3	+	12	2062	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R643H|THSD4_ENST00000357769.4_Missense_Mutation_p.R283H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	643						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTATTTTCCGCTGTGTGCAC	0.542													92	321	---	---	---	---	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74368249	74368249	+	Silent	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr15:74368249G>A	ENST00000290438.3	-	8	682	c.642C>T	c.(640-642)caC>caT	p.H214H		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	214										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CCTGTGTCACGTGTGCGTTCA	0.582													4	134	---	---	---	---	0	0
TLK2	11011	broad.mit.edu	37	17	60685506	60685506	+	Silent	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr17:60685506A>G	ENST00000582809.1	+	22	2332	c.1629A>G	c.(1627-1629)gcA>gcG	p.A543A	TLK2_ENST00000346027.5_Silent_p.A692A|TLK2_ENST00000343388.7_Silent_p.A660A|TLK2_ENST00000542523.1_Silent_p.A660A|TLK2_ENST00000326270.9_Silent_p.A714A			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	714	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CACCTGAAGCAAAGGTAAGTT	0.418													6	33	---	---	---	---	0	0
UNC13D	201294	broad.mit.edu	37	17	73827403	73827403	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr17:73827403G>A	ENST00000207549.4	-	26	2853	c.2474C>T	c.(2473-2475)aCa>aTa	p.T825I	UNC13D_ENST00000412096.2_Missense_Mutation_p.T825I	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	825	MHD2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACTGTGAGTGTGTGGGTCCA	0.657									Familial Hemophagocytic Lymphohistiocytosis				13	26	---	---	---	---	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15582860	15582860	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr19:15582860C>T	ENST00000292609.4	-	3	1313	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.G395D			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	395					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTTCGGGCGGCCCCGATAAGG	0.662													6	38	---	---	---	---	0	0
IL17RA	23765	broad.mit.edu	37	22	17586829	17586829	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr22:17586829A>G	ENST00000319363.6	+	11	1163	c.1030A>G	c.(1030-1032)Acc>Gcc	p.T344A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	344					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CGTCTGCATGACCTGGAGGCT	0.572													3	48	---	---	---	---	0	0
PIWIL3	440822	broad.mit.edu	37	22	25147435	25147435	+	Silent	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr22:25147435A>G	ENST00000332271.5	-	9	1424	c.1008T>C	c.(1006-1008)gaT>gaC	p.D336D	PIWIL3_ENST00000527701.1_Silent_p.D227D|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.D227D	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	336	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCCAATCAATATCATCTACTC	0.338													43	123	---	---	---	---	0	0
FOXR2	139628	broad.mit.edu	37	X	55650284	55650284	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chrX:55650284C>T	ENST00000339140.3	+	1	452	c.140C>T	c.(139-141)gCc>gTc	p.A47V		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	47					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CAAATCCTTGCCAAATACAGA	0.527													3	34	---	---	---	---	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303840	151303840	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chrX:151303840G>T	ENST00000370323.4	-	4	569	c.253C>A	c.(253-255)Cag>Aag	p.Q85K	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.Q85K	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	85										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGCACTCTGGGGAGGATTT	0.542													5	101	---	---	---	---	0	0
KIF17	57576	broad.mit.edu	37	1	21009257	21009257	+	Silent	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:21009257G>A	ENST00000247986.2	-	11	2662	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.A684A|KIF17_ENST00000400463.3_Silent_p.A784A			Q9P2E2	KIF17_HUMAN	kinesin family member 17	784					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGTTCTGCAGGGCAGCCACCA	0.607													14	42	---	---	---	---	0	0
HSPG2	3339	broad.mit.edu	37	1	22168751	22168751	+	Silent	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:22168751G>T	ENST00000374695.3	-	68	9112	c.9033C>A	c.(9031-9033)ccC>ccA	p.P3011P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3011	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACCCCTCACTGGGCGGGACGG	0.652													4	54	---	---	---	---	0	0
KCNA3	3738	broad.mit.edu	37	1	111217006	111217006	+	Silent	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:111217006C>T	ENST00000369769.2	-	1	649	c.426G>A	c.(424-426)ccG>ccA	p.P142P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	142						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTTGCGGAGCGGGTCGAAGT	0.652													6	110	---	---	---	---	0	0
AP4B1	10717	broad.mit.edu	37	1	114442579	114442579	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:114442579C>T	ENST00000369569.1	-	5	1341	c.1061G>A	c.(1060-1062)gGg>gAg	p.G354E	AP4B1_ENST00000256658.4_Missense_Mutation_p.G354E|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.G261E|AP4B1_ENST00000369567.1_Missense_Mutation_p.G186E	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	354					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTGCAGTACCCTCGAAGCTC	0.527													145	208	---	---	---	---	0	0
ILDR2	387597	broad.mit.edu	37	1	166890544	166890544	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:166890544G>C	ENST00000271417.3	-	9	1339	c.1284C>G	c.(1282-1284)gaC>gaG	p.D428E	ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.D369E|ILDR2_ENST00000526687.1_Missense_Mutation_p.D320E|ILDR2_ENST00000529071.1_Missense_Mutation_p.D409E|ILDR2_ENST00000525740.1_Missense_Mutation_p.D301E	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	428						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCGCCAGCTCGTCCATGGAAA	0.711													5	10	---	---	---	---	0	0
MROH9	80133	broad.mit.edu	37	1	170959063	170959063	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:170959063T>C	ENST00000367759.4	+	11	1101	c.947T>C	c.(946-948)tTg>tCg	p.L316S	MROH9_ENST00000367758.3_Missense_Mutation_p.L316S	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		GATGTTATGTTGCAGGTTATC	0.438													41	49	---	---	---	---	0	0
USH2A	7399	broad.mit.edu	37	1	216166392	216166392	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:216166392C>T	ENST00000366943.2	-	35	7161	c.6775G>A	c.(6775-6777)Gtc>Atc	p.V2259I	USH2A_ENST00000307340.3_Missense_Mutation_p.V2259I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2259	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.V2259I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCCAGGAGACATTAAAGGAG	0.463										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	107	181	---	---	---	---	0	0
DLEC1	9940	broad.mit.edu	37	3	38158019	38158019	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr3:38158019G>C	ENST00000308059.6	+	28	3953	c.3932G>C	c.(3931-3933)gGg>gCg	p.G1311A	DLEC1_ENST00000452631.2_Missense_Mutation_p.G1314A|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1311A			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1311					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTGTTTTATGGGCCACCTTTC	0.612													31	27	---	---	---	---	0	0
SCAND3	114821	broad.mit.edu	37	6	28554185	28554185	+	Silent	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:28554185G>A	ENST00000452236.2	-	1	927	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	104	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCCTCAGGCAGGATGGTCAGG	0.537													5	132	---	---	---	---	0	0
EYS	346007	broad.mit.edu	37	6	66204918	66204918	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:66204918C>T	ENST00000503581.1	-	4	923	c.386G>A	c.(385-387)aGa>aAa	p.R129K	EYS_ENST00000370618.3_Missense_Mutation_p.R129K|EYS_ENST00000370616.2_Missense_Mutation_p.R129K|EYS_ENST00000393380.2_Missense_Mutation_p.R129K|EYS_ENST00000342421.5_Missense_Mutation_p.R129K|EYS_ENST00000370621.3_Missense_Mutation_p.R129K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	129					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCTTTTAGTCTGCAGCCAAA	0.393													12	16	---	---	---	---	0	0
ZNF292	23036	broad.mit.edu	37	6	87968799	87968799	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:87968799G>T	ENST00000369577.3	+	8	5495	c.5452G>T	c.(5452-5454)Gtc>Ttc	p.V1818F	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1813F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTTTATAAGTGTCATGCCAAC	0.318													5	13	---	---	---	---	0	0
DDO	8528	broad.mit.edu	37	6	110726001	110726001	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:110726001G>A	ENST00000368924.3	-	4	533	c.518C>T	c.(517-519)gCc>gTc	p.A173V	DDO_ENST00000368923.3_Intron	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	145					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CGGGAGGTAGGCAGGGCATTC	0.433													20	3	---	---	---	---	0	0
OSBPL3	26031	broad.mit.edu	37	7	24892244	24892244	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:24892244G>A	ENST00000313367.2	-	11	1488	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	OSBPL3_ENST00000396429.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000409069.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000353930.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000396431.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000352860.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000431825.2_Missense_Mutation_p.T315I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	346					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGACCTTAAAGTGAAGTAAAC	0.368													10	57	---	---	---	---	0	0
GHRHR	2692	broad.mit.edu	37	7	31016135	31016135	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:31016135A>G	ENST00000409904.3	+	8	1132	c.874A>G	c.(874-876)Atc>Gtc	p.I292V	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.I356V|GHRHR_ENST00000409316.1_Missense_Mutation_p.H122R			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	356					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	TGGCCTGGGCATCCGCCTCCC	0.572													11	21	---	---	---	---	0	0
BBS9	27241	broad.mit.edu	37	7	33296923	33296923	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:33296923G>T	ENST00000242067.6	+	6	1039	c.518G>T	c.(517-519)aGa>aTa	p.R173I	BBS9_ENST00000350941.3_Missense_Mutation_p.R173I|BBS9_ENST00000425508.2_Missense_Mutation_p.R128I|BBS9_ENST00000355070.2_Missense_Mutation_p.R173I|BBS9_ENST00000396127.2_Missense_Mutation_p.R173I|BBS9_ENST00000354265.4_Missense_Mutation_p.R173I	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	173					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCTTTTGGAAGATTTCTCCCT	0.428									Bardet-Biedl syndrome				39	69	---	---	---	---	0	0
DOCK4	9732	broad.mit.edu	37	7	111629104	111629104	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:111629104G>A	ENST00000428084.1	-	6	702	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.R144C			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	144					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.R132C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTAATGTGGCGCTTCACGTCC	0.572													13	17	---	---	---	---	0	0
WBP11	51729	broad.mit.edu	37	12	14940329	14940329	+	Silent	SNP	C	C	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:14940329C>A	ENST00000261167.2	-	12	1829	c.1596G>T	c.(1594-1596)ggG>ggT	p.G532G		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	532	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CACTTAAAACCCCAGGGTTTG	0.592													129	156	---	---	---	---	0	0
ART4	420	broad.mit.edu	37	12	14993733	14993733	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:14993733T>C	ENST00000228936.4	-	2	880	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	167					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						AGCAGCTGGATTGCTGAGGTG	0.473													29	56	---	---	---	---	0	0
OR10P1	121130	broad.mit.edu	37	12	56031259	56031259	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:56031259G>A	ENST00000309675.2	+	1	616	c.584G>A	c.(583-585)aGg>aAg	p.R195K		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GGGAAGCACAGGAGCGAGATC	0.532													28	60	---	---	---	---	0	0
HAUS4	54930	broad.mit.edu	37	14	23417142	23417142	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr14:23417142C>A	ENST00000206474.7	-	7	895	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000490506.1_Missense_Mutation_p.D91Y|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000541587.1_Missense_Mutation_p.D215Y|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G44V|HAUS4_ENST00000555986.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000342454.8_Missense_Mutation_p.D170Y|HAUS4_ENST00000555367.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000347758.2_Intron|RP11-298I3.1_ENST00000548322.1_RNA			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	215					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTCTTGGCATCCTGGCACTGC	0.552													27	38	---	---	---	---	0	0
SLC28A2	9153	broad.mit.edu	37	15	45555257	45555257	+	Splice_Site	SNP	A	A	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr15:45555257A>T	ENST00000347644.3	+	5	327		c.e5-1		CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TTCTCTTTTTAGCCTATGCTG	0.473													13	52	---	---	---	---	0	0
CNOT1	23019	broad.mit.edu	37	16	58633154	58633154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:58633154G>A	ENST00000317147.5	-	2	420	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q30*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q30*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	30					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTATTTCCTGCTGGCTGGCT	0.448													6	99	---	---	---	---	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67220718	67220718	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:67220718G>A	ENST00000314586.6	-	7	1468	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	410					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCTGTGTTGGGCCCATGCTCC	0.622													36	51	---	---	---	---	0	0
HPR	3250	broad.mit.edu	37	16	72108237	72108237	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:72108237T>C	ENST00000540303.2	+	3	178	c.146T>C	c.(145-147)tTt>tCt	p.F49S	HPR_ENST00000561690.1_Missense_Mutation_p.F49S|HPR_ENST00000356967.5_Missense_Mutation_p.F49S|HPR_ENST00000228226.8_Missense_Mutation_p.F86S	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	49	Sushi.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GAGCACTTGTTTCGCTACCAG	0.483													31	33	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr17:47696426A>C	ENST00000393331.3	-	7	867	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			69	93	---	---	---	---	0	0
LILRB5	0	broad.mit.edu	37	19	54760504	54760504	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr19:54760504G>A	ENST00000450632.1	-	3	280	c.203C>T	c.(202-204)gCc>gTc	p.A68V	LILRB5_ENST00000316219.5_Missense_Mutation_p.A68V|LILRB5_ENST00000345866.6_Missense_Mutation_p.A68V|LILRB5_ENST00000449561.2_Missense_Mutation_p.A68V			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	68	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTCTTCCGGGCCCATGGGAG	0.607													39	156	---	---	---	---	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128944944	128944944	+	Silent	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chrX:128944944C>T	ENST00000357166.6	-	10	1306	c.915G>A	c.(913-915)gaG>gaA	p.E305E	ZDHHC9_ENST00000371064.3_Silent_p.E305E	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	305						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TTCCACTTTCCTCCAGTGGCA	0.517													10	4	---	---	---	---	0	0
CD5L	922	broad.mit.edu	37	1	157804497	157804497	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr1:157804497G>T	ENST00000368174.4	-	4	514	c.418C>A	c.(418-420)Ctg>Atg	p.L140M		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	140	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.L140L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCGTCAGCCAGCCTGACACCC	0.582													10	43	---	---	---	---	0	0
SLC19A2	10560	broad.mit.edu	37	1	169438005	169438005	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr1:169438005G>A	ENST00000236137.5	-	4	1336	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	SLC19A2_ENST00000367804.4_Missense_Mutation_p.S166F	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	367					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					AGAAAAGAGAGATAATGTCAT	0.383													4	82	---	---	---	---	0	0
C2orf16	84226	broad.mit.edu	37	2	27802537	27802537	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr2:27802537C>T	ENST00000408964.2	+	1	3149	c.3098C>T	c.(3097-3099)tCc>tTc	p.S1033F		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1033										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCAGAGTCTTCCCTCAGCATA	0.453													18	74	---	---	---	---	0	0
SF3B1	23451	broad.mit.edu	37	2	198266711	198266711	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr2:198266711T>C	ENST00000335508.6	-	15	2312	c.2221A>G	c.(2221-2223)Aag>Gag	p.K741E		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGATTTACCTTTCCTCTGTGT	0.353			Mis		myelodysplastic syndrome								21	48	---	---	---	---	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73186558	73186558	+	Silent	SNP	T	T	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr4:73186558T>A	ENST00000286657.4	-	7	1011	c.975A>T	c.(973-975)ccA>ccT	p.P325P		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	325	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCTTCTGGATGGGTTTCCCC	0.438													13	48	---	---	---	---	0	0
SLC25A27	9481	broad.mit.edu	37	6	46637938	46637938	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr6:46637938G>T	ENST00000371347.5	+	7	1023	c.771G>T	c.(769-771)atG>atT	p.M257I	SLC25A27_ENST00000452689.2_Missense_Mutation_p.M171I|SLC25A27_ENST00000411689.2_Intron|SLC25A27_ENST00000604908.1_3'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	257					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GCAGAATAATGAATCAACCAC	0.348													4	58	---	---	---	---	0	0
GSTA2	2939	broad.mit.edu	37	6	52619834	52619834	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr6:52619834A>G	ENST00000493422.1	-	4	334	c.179T>C	c.(178-180)aTt>aCt	p.I60T		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	60	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	CATCCCATCAATCTCAACCAT	0.428													10	182	---	---	---	---	0	0
PLOD3	8985	broad.mit.edu	37	7	100859736	100859736	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr7:100859736T>C	ENST00000223127.3	-	3	691	c.293A>G	c.(292-294)gAg>gGg	p.E98G		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	98					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGCGTATTTCTCCATTTCCTT	0.567													11	38	---	---	---	---	0	0
OR56A3	390083	broad.mit.edu	37	11	5969418	5969418	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr11:5969418A>G	ENST00000329564.6	+	1	849	c.842A>G	c.(841-843)aAt>aGt	p.N281S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTTGCTCAATGTTCTCCAC	0.478													27	93	---	---	---	---	0	0
ARNTL2	56938	broad.mit.edu	37	12	27553667	27553667	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr12:27553667C>G	ENST00000544915.1	+	9	1237	c.1018C>G	c.(1018-1020)Cgg>Ggg	p.R340G	ARNTL2_ENST00000395901.2_Missense_Mutation_p.R337G|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R360G|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R289G|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R374G|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R337G|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R326G	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	374			N -> S (in dbSNP:rs1037921).		circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ATTTATAACCCGGTTTGCAGT	0.343													15	62	---	---	---	---	0	0
KTN1	0	broad.mit.edu	37	14	56079014	56079014	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr14:56079014A>G	ENST00000416613.1	+	1	320	c.248A>G	c.(247-249)gAc>gGc	p.D83G	KTN1_ENST00000395314.3_Missense_Mutation_p.D83G|KTN1_ENST00000395311.1_Missense_Mutation_p.D83G|KTN1_ENST00000413890.2_Missense_Mutation_p.D83G|KTN1_ENST00000395308.1_Missense_Mutation_p.D83G|KTN1_ENST00000395309.3_Missense_Mutation_p.D83G|KTN1_ENST00000438792.2_Missense_Mutation_p.D83G			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	83					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GTACCTCGAGACTTTAAATTA	0.358			T	RET	papillary thryoid								14	53	---	---	---	---	0	0
TELO2	9894	broad.mit.edu	37	16	1556991	1556991	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr16:1556991T>C	ENST00000262319.6	+	18	2444	c.2165T>C	c.(2164-2166)cTg>cCg	p.L722P		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	722						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GAAGACCAGCTGGTTCTCGGA	0.652													4	9	---	---	---	---	0	0
GPR142	350383	broad.mit.edu	37	17	72363725	72363725	+	Silent	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr17:72363725T>C	ENST00000335666.4	+	1	129	c.81T>C	c.(79-81)ggT>ggC	p.G27G		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	27						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTGTCCTGGGTACAGAAGCAT	0.507													12	40	---	---	---	---	0	0
ICT1	3396	broad.mit.edu	37	17	73016712	73016712	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr17:73016712A>C	ENST00000301585.5	+	5	509	c.496A>C	c.(496-498)Aag>Cag	p.K166Q		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	166					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					CCAGACACCGAAGGAGCCAAC	0.468													3	56	---	---	---	---	0	0
HOOK2	29911	broad.mit.edu	37	19	12875684	12875684	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:12875684C>T	ENST00000264827.5	-	19	1935	c.1765G>A	c.(1765-1767)Gcg>Acg	p.A589T	HOOK2_ENST00000397668.3_Missense_Mutation_p.A591T	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	591	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGCAAGTCCGCGTCCTTCTTC	0.647											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	104	---	---	---	---	0	0
ZNF155	7711	broad.mit.edu	37	19	44495748	44495748	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:44495748C>G	ENST00000270014.2	+	3	192	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V|ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	22	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TGAGGAGGAGCTGGGGCTGCT	0.532													5	178	---	---	---	---	0	0
DPH2	1802	broad.mit.edu	37	1	44435899	44435899	+	Missense_Mutation	SNP	G	G	C	rs41270389		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:44435899G>C	ENST00000255108.3	+	1	224	c.52G>C	c.(52-54)Ggg>Cgg	p.G18R	DPH2_ENST00000396758.2_Missense_Mutation_p.G18R|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_5'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	18					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCGAGAGACCGGGGTGCCAGG	0.647													6	59	---	---	---	---	0	0
COL11A1	1301	broad.mit.edu	37	1	103488491	103488491	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:103488491T>C	ENST00000358392.2	-	8	1405	c.1088A>G	c.(1087-1089)cAg>cGg	p.Q363R	COL11A1_ENST00000353414.4_Missense_Mutation_p.Q312R|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q351R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	351	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTTTTCCTCTGGGAATCATA	0.338													11	55	---	---	---	---	0	0
BCAN	63827	broad.mit.edu	37	1	156618650	156618650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:156618650C>T	ENST00000329117.5	+	6	1396	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Nonsense_Mutation_p.R354*	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTACTGCTTCCGAGGTGAGCC	0.557													9	74	---	---	---	---	0	0
SLC9C2	284525	broad.mit.edu	37	1	173495815	173495815	+	Silent	SNP	A	A	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:173495815A>G	ENST00000367714.3	-	19	2774	c.2352T>C	c.(2350-2352)gcT>gcC	p.A784A	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	784					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTCTTTGACAGCATCCTGTT	0.259													10	62	---	---	---	---	0	0
XPR1	9213	broad.mit.edu	37	1	180833005	180833005	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:180833005C>A	ENST00000367590.4	+	12	1861	c.1663C>A	c.(1663-1665)Caa>Aaa	p.Q555K	XPR1_ENST00000367589.3_Missense_Mutation_p.Q490K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	555	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGTATACCCCCAAAAAGTATG	0.408													4	82	---	---	---	---	0	0
C4BPA	722	broad.mit.edu	37	1	207317225	207317225	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:207317225G>A	ENST00000367070.3	+	11	1701	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	503	Sushi 8.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCAGTATGTTGAGCCTGAAAA	0.433													4	53	---	---	---	---	0	0
TTC30A	92104	broad.mit.edu	37	2	178481831	178481831	+	Silent	SNP	A	A	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr2:178481831A>G	ENST00000355689.5	-	1	1863	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TTGGGTCATCATAAGAGAGCT	0.388													101	172	---	---	---	---	0	0
MYLK	4638	broad.mit.edu	37	3	123452701	123452701	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:123452701G>A	ENST00000360772.3	-	11	1520	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	MYLK_ENST00000475616.1_Missense_Mutation_p.T381I|MYLK_ENST00000359169.1_Missense_Mutation_p.T381I|MYLK_ENST00000346322.5_Missense_Mutation_p.T381I|MYLK_ENST00000360304.3_Missense_Mutation_p.T381I			Q15746	MYLK_HUMAN	myosin light chain kinase	381					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGTGGGGAAGGTGGCTGGACG	0.622													5	74	---	---	---	---	0	0
EPHB1	2047	broad.mit.edu	37	3	134885817	134885817	+	Silent	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:134885817C>T	ENST00000398015.3	+	9	2098	c.1728C>T	c.(1726-1728)agC>agT	p.S576S	EPHB1_ENST00000493838.1_Silent_p.S137S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	576						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTGTGTACAGCGATAAGCTCC	0.552													7	178	---	---	---	---	0	0
PPEF2	5470	broad.mit.edu	37	4	76811139	76811139	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr4:76811139C>A	ENST00000286719.7	-	5	744	c.388G>T	c.(388-390)Gcc>Tcc	p.A130S		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	130	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTACCAGGGCAGTTGCATGG	0.527													7	120	---	---	---	---	0	0
PCDHA12	0	broad.mit.edu	37	5	140256502	140256502	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr5:140256502C>T	ENST00000398631.2	+	1	1445	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGGGACGCGGACGCGCAG	0.662													5	98	---	---	---	---	0	0
HDAC3	8841	broad.mit.edu	37	5	141005788	141005788	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr5:141005788T>G	ENST00000305264.3	-	11	972	c.893A>C	c.(892-894)tAt>tCt	p.Y298S	AC008781.7_ENST00000422040.2_RNA	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	298	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TCGGACAGTATAACCACCACC	0.512													15	24	---	---	---	---	0	0
KIF13A	63971	broad.mit.edu	37	6	17779890	17779890	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:17779890C>T	ENST00000378814.5	-	31	3832	c.3833G>A	c.(3832-3834)aGa>aAa	p.R1278K	KIF13A_ENST00000259711.6_Missense_Mutation_p.R1291K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1291K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1278K|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1291K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1291					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGGGATATTCTCCTCTTCAA	0.299													13	30	---	---	---	---	0	0
HIST1H4A	8359	broad.mit.edu	37	6	26022184	26022184	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:26022184G>T	ENST00000359907.3	+	1	278	c.278G>T	c.(277-279)cGc>cTc	p.R93L		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	93					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|skin(1)	2						GCGCTTAAGCGCCAGGGACGC	0.537													5	71	---	---	---	---	0	0
UTRN	7402	broad.mit.edu	37	6	145157535	145157535	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:145157535C>T	ENST00000367545.3	+	70	9923	c.9923C>T	c.(9922-9924)aCg>aTg	p.T3308M	UTRN_ENST00000367526.4_Missense_Mutation_p.T863M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3308					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCCATCACACGTCTGAGGAT	0.502													13	153	---	---	---	---	0	0
TIAM2	26230	broad.mit.edu	37	6	155500568	155500568	+	Silent	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:155500568G>A	ENST00000461783.3	+	14	3958	c.2685G>A	c.(2683-2685)aaG>aaA	p.K895K	TIAM2_ENST00000528391.2_Silent_p.K231K|TIAM2_ENST00000367174.2_Silent_p.K271K|TIAM2_ENST00000360366.4_Silent_p.K919K|TIAM2_ENST00000529824.2_Silent_p.K895K|TIAM2_ENST00000456877.2_Silent_p.K207K|TIAM2_ENST00000318981.5_Silent_p.K895K|TIAM2_ENST00000456144.1_Silent_p.K895K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	895	PDZ.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCTCACGAAGACTGGGAGTG	0.413													34	79	---	---	---	---	0	0
ELN	2006	broad.mit.edu	37	7	73456962	73456962	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr7:73456962C>A	ENST00000252034.7	+	6	650	c.251C>A	c.(250-252)gCa>gAa	p.A84E	ELN_ENST00000320492.7_Missense_Mutation_p.A72E|ELN_ENST00000380553.4_Intron|ELN_ENST00000380576.5_Missense_Mutation_p.A84E|ELN_ENST00000380575.4_Missense_Mutation_p.A74E|ELN_ENST00000358929.4_Missense_Mutation_p.A84E|ELN_ENST00000380562.4_Missense_Mutation_p.A84E|ELN_ENST00000320399.6_Missense_Mutation_p.A84E|ELN_ENST00000458204.1_Missense_Mutation_p.A74E|ELN_ENST00000357036.5_Missense_Mutation_p.A84E|ELN_ENST00000380584.4_Missense_Mutation_p.A84E|ELN_ENST00000429192.1_Missense_Mutation_p.A84E|ELN_ENST00000414324.1_Missense_Mutation_p.A74E|ELN_ENST00000445912.1_Missense_Mutation_p.A84E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	84					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GCCTTCCCCGCAGTTACCTTT	0.637			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						10	52	---	---	---	---	0	0
OR5M8	219484	broad.mit.edu	37	11	56257968	56257968	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr11:56257968A>C	ENST00000327216.2	-	1	903	c.879T>G	c.(877-879)aaT>aaG	p.N293K		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTACATTTTTATTTCTAAGGC	0.328													17	30	---	---	---	---	0	0
OR5M8	219484	broad.mit.edu	37	11	56258436	56258436	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr11:56258436C>A	ENST00000327216.2	-	1	435	c.411G>T	c.(409-411)aaG>aaT	p.K137N		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGCACACACTCTTGGACATTC	0.542													21	34	---	---	---	---	0	0
SLC12A6	9990	broad.mit.edu	37	15	34528968	34528968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr15:34528968C>A	ENST00000354181.3	-	23	3475	c.2983G>T	c.(2983-2985)Gaa>Taa	p.E995*	SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E986*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E944*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E980*			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	995					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GACCTTTGTTCCATCATCAAA	0.458													13	71	---	---	---	---	0	0
BNC1	646	broad.mit.edu	37	15	83935780	83935780	+	Silent	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr15:83935780C>T	ENST00000345382.2	-	3	328	c.243G>A	c.(241-243)caG>caA	p.Q81Q	BNC1_ENST00000569704.1_Silent_p.Q74Q|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	81					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAATCTCCACCTGGCTTGTTG	0.443													5	41	---	---	---	---	0	0
NUPR1	26471	broad.mit.edu	37	16	28549403	28549403	+	Silent	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr16:28549403G>A	ENST00000324873.6	-	2	452	c.186C>T	c.(184-186)caC>caT	p.H62H	NUPR1_ENST00000395641.2_Silent_p.H80H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	62					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						GTTTCCTCTCGTGCCCGCCAG	0.622													49	73	---	---	---	---	0	0
TMEM199	147007	broad.mit.edu	37	17	26687568	26687568	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:26687568G>A	ENST00000292114.3	+	4	482	c.392G>A	c.(391-393)gGg>gAg	p.G131E	TMEM199_ENST00000509083.1_Missense_Mutation_p.G131E|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'UTR	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	131						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGACATGGTGGGACTCTCAGC	0.468													7	26	---	---	---	---	0	0
CPD	1362	broad.mit.edu	37	17	28748781	28748781	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:28748781A>C	ENST00000225719.4	+	4	1313	c.1237A>C	c.(1237-1239)Aca>Cca	p.T413P	CPD_ENST00000543464.2_Missense_Mutation_p.T166P	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	413	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TAATATCACAACAGGCAGATT	0.368													41	63	---	---	---	---	0	0
MYO1D	4642	broad.mit.edu	37	17	31099824	31099824	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:31099824A>C	ENST00000318217.5	-	5	905	c.601T>G	c.(601-603)Ttt>Gtt	p.F201V	MYO1D_ENST00000394649.4_Missense_Mutation_p.F113V|MYO1D_ENST00000579584.1_Missense_Mutation_p.F201V|MYO1D_ENST00000583621.1_Missense_Mutation_p.F201V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	201	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AAAGAATGAAAGCTTCTTTCT	0.393													5	207	---	---	---	---	0	0
SOGA2	23255	broad.mit.edu	37	18	8793060	8793060	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr18:8793060T>A	ENST00000359865.3	+	8	2094	c.1952T>A	c.(1951-1953)gTg>gAg	p.V651E	SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	980																	GGTCAGCTCGTGCAGGCGGCC	0.498													39	83	---	---	---	---	0	0
HDGFRP2	0	broad.mit.edu	37	19	4491627	4491627	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:4491627C>T	ENST00000301284.4	+	5	618	c.554C>T	c.(553-555)tCc>tTc	p.S185F	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S185F	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		185	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										GTGTCCCCATCCGAAGAGGAG	0.617													9	52	---	---	---	---	0	0
C3	718	broad.mit.edu	37	19	6707507	6707507	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:6707507C>T	ENST00000245907.6	-	16	2109	c.2017G>A	c.(2017-2019)Gtg>Atg	p.V673M		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	673					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTGAGCTGCACGGAACGGCGT	0.662													5	64	---	---	---	---	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654353	8654353	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:8654353C>T	ENST00000270328.4	-	16	2283	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.V673I|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.V160I			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	673	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCGCCACTGACGCAAATGTCC	0.657													6	67	---	---	---	---	0	0
CD22	933	broad.mit.edu	37	19	35831815	35831815	+	Silent	SNP	A	A	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:35831815A>G	ENST00000085219.5	+	7	1347	c.1281A>G	c.(1279-1281)caA>caG	p.Q427Q	CD22_ENST00000544992.2_Silent_p.Q427Q|CD22_ENST00000270311.6_Silent_p.Q307Q|CD22_ENST00000594250.1_Silent_p.Q250Q|CD22_ENST00000536635.2_Silent_p.Q339Q|CD22_ENST00000419549.2_Silent_p.Q255Q|CD22_ENST00000341773.6_Silent_p.Q250Q	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	427	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CAGTGATTCAAAACCCCATGC	0.507													3	83	---	---	---	---	0	0
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:43430713G>A	ENST00000446844.3	-	0	954				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493													109	226	---	---	---	---	0	0
PVRL2	5819	broad.mit.edu	37	19	45381839	45381839	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:45381839G>A	ENST00000252485.4	+	6	1753	c.1402G>A	c.(1402-1404)Gac>Aac	p.D468N	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	527					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTCCCAGCTGGACGGCTCCCT	0.637													3	34	---	---	---	---	0	0
ZNF256	10172	broad.mit.edu	37	19	58453386	58453386	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:58453386C>T	ENST00000282308.3	-	3	986	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	264					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TAAGGCTTTTCTGAAGTGTGA	0.428													67	360	---	---	---	---	0	0
SOGA1	140710	broad.mit.edu	37	20	35425294	35425294	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr20:35425294C>G	ENST00000237536.4	-	13	3814	c.3473G>C	c.(3472-3474)gGt>gCt	p.G1158A	SOGA1_ENST00000357779.3_Missense_Mutation_p.G920A|SOGA1_ENST00000456801.2_Missense_Mutation_p.G761A|SOGA1_ENST00000279034.6_Missense_Mutation_p.G920A	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	920										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCTCTTTAAACCATTTCCTCC	0.582													11	43	---	---	---	---	0	0
RBM11	54033	broad.mit.edu	37	21	15592040	15592040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr21:15592040C>T	ENST00000400577.3	+	2	262	c.253C>T	c.(253-255)Cga>Tga	p.R85*	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	85	RRM.						nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CGTGCAGTATCGATTTGGTAG	0.373													3	13	---	---	---	---	0	0
IGLV3-25	0	broad.mit.edu	37	22	23029467	23029467	+	RNA	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr22:23029467G>A	ENST00000390305.2	+	0	112																											CCTATGAGCTGACACAGCCAC	0.572													7	74	---	---	---	---	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707841	26707841	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr22:26707841G>T	ENST00000529632.2	+	8	1985	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	SEZ6L_ENST00000360929.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G597C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G597C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G370C	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	597	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCGACCCCGGCCACTCCCT	0.567													4	187	---	---	---	---	0	0
FAM47C	442444	broad.mit.edu	37	X	37028160	37028160	+	Silent	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chrX:37028160C>T	ENST00000358047.3	+	1	1729	c.1677C>T	c.(1675-1677)cgC>cgT	p.R559R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	559										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCATCTCCGCCCAGAGCCTC	0.612													36	12	---	---	---	---	0	0
HHAT	55733	broad.mit.edu	37	1	210577932	210577932	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr1:210577932C>T	ENST00000367010.1	+	6	820	c.593C>T	c.(592-594)tCc>tTc	p.S198F	HHAT_ENST00000391905.3_Missense_Mutation_p.S198F|HHAT_ENST00000261458.3_Missense_Mutation_p.S198F|HHAT_ENST00000545781.1_Missense_Mutation_p.S135F|HHAT_ENST00000537898.1_Missense_Mutation_p.S133F|HHAT_ENST00000545154.1_Missense_Mutation_p.S199F|HHAT_ENST00000308852.6_Missense_Mutation_p.S153F|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000413764.2_Missense_Mutation_p.S198F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	198					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GCATCGACCTCCTACTCCTTT	0.547													16	92	---	---	---	---	0	0
NEB	4703	broad.mit.edu	37	2	152359340	152359340	+	Silent	SNP	C	C	T			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr2:152359340C>T	ENST00000397345.3	-	167	24097	c.23895G>A	c.(23893-23895)gaG>gaA	p.E7965E	NEB_ENST00000397336.2_Silent_p.E2E|NEB_ENST00000172853.10_Silent_p.E6264E|NEB_ENST00000498015.2_Intron|NEB_ENST00000603639.1_Silent_p.E7965E|NEB_ENST00000604864.1_Silent_p.E7965E|NEB_ENST00000409198.1_Silent_p.E6264E|NEB_ENST00000427231.2_Silent_p.E7965E|NEB_ENST00000509223.2_Intron	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	6264					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTTGACTCTCTCCATCTCTG	0.353													3	31	---	---	---	---	0	0
LGSN	51557	broad.mit.edu	37	6	63990019	63990019	+	Silent	SNP	G	G	A			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr6:63990019G>A	ENST00000370657.4	-	4	1470	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	479					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ATCGAATAAAGGTTTCTCCTA	0.368													5	110	---	---	---	---	0	0
GPNMB	10457	broad.mit.edu	37	7	23286530	23286530	+	Silent	SNP	A	A	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr7:23286530A>C	ENST00000258733.4	+	1	349	c.54A>C	c.(52-54)ccA>ccC	p.P18P	GPNMB_ENST00000539136.1_Silent_p.P18P|GPNMB_ENST00000381990.2_Silent_p.P18P|GPNMB_ENST00000453162.2_Silent_p.P18P|GPNMB_ENST00000409458.3_Silent_p.P18P			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	18					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAAGATTGCCACTTGATGCCG	0.448													4	90	---	---	---	---	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94898588	94898588	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr7:94898588T>C	ENST00000289495.5	+	12	2989	c.2773T>C	c.(2773-2775)Tct>Cct	p.S925P	PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S943P|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S943P|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S965P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	925	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGAACGTCTTCTCCAGAATC	0.433										HNSCC(28;0.073)			6	34	---	---	---	---	0	0
MATN2	4147	broad.mit.edu	37	8	99030231	99030231	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr8:99030231T>G	ENST00000254898.5	+	12	1937	c.1706T>G	c.(1705-1707)gTc>gGc	p.V569G	MATN2_ENST00000520016.1_Missense_Mutation_p.V569G|MATN2_ENST00000524308.1_Missense_Mutation_p.V528G|MATN2_ENST00000522025.2_Missense_Mutation_p.V285G|MATN2_ENST00000521689.1_Missense_Mutation_p.V569G	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	569	EGF-like 9.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GGGAAAGATGTCTGCCAAGCT	0.488													9	251	---	---	---	---	0	0
OR2S2	56656	broad.mit.edu	37	9	35957215	35957215	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr9:35957215G>C	ENST00000341959.2	-	1	936	c.881C>G	c.(880-882)cCc>cGc	p.P294R		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			ATAGATGATGGGGTTGAGCAT	0.517													4	115	---	---	---	---	0	0
ITGA8	8516	broad.mit.edu	37	10	15655705	15655705	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr10:15655705C>T	ENST00000378076.3	-	15	1860	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	503					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTTTATTTTCAAGATTGATA	0.453													5	129	---	---	---	---	0	0
ANKRD26	22852	broad.mit.edu	37	10	27324083	27324083	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr10:27324083T>C	ENST00000376087.4	-	24	3461	c.3296A>G	c.(3295-3297)aAg>aGg	p.K1099R	ANKRD26_ENST00000436985.2_Missense_Mutation_p.K1115R|ANKRD26_ENST00000376070.3_Missense_Mutation_p.K656R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1098						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GCTTAGGTCCTTTTGTACCCG	0.363													4	181	---	---	---	---	0	0
FAM13C	220965	broad.mit.edu	37	10	61083780	61083780	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr10:61083780G>T	ENST00000373867.3	-	5	627	c.162C>A	c.(160-162)ttC>ttA	p.F54L	FAM13C_ENST00000419214.2_Missense_Mutation_p.F137L|FAM13C_ENST00000442566.3_Missense_Mutation_p.F137L|FAM13C_ENST00000422313.2_Missense_Mutation_p.F137L|FAM13C_ENST00000373868.2_Missense_Mutation_p.F137L|FAM13C_ENST00000468840.2_Missense_Mutation_p.F54L|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000277705.6_Missense_Mutation_p.F137L|FAM13C_ENST00000435852.2_Missense_Mutation_p.F137L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	137										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGGCACTTGAAGGCATTGT	0.488													7	193	---	---	---	---	0	0
STOX1	219736	broad.mit.edu	37	10	70645938	70645938	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr10:70645938A>G	ENST00000298596.6	+	3	2469	c.2386A>G	c.(2386-2388)Aga>Gga	p.R796G	STOX1_ENST00000421961.2_Missense_Mutation_p.R686G|STOX1_ENST00000399169.4_Missense_Mutation_p.R796G|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	796						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GGTGCTTAAAAGAAATGAATG	0.468													4	68	---	---	---	---	0	0
MMP12	4321	broad.mit.edu	37	11	102733793	102733793	+	RNA	SNP	C	C	G			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr11:102733793C>G	ENST00000532855.1	-	0	1546							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ACTTATTAAGCTGAAGTGAAC	0.313													4	52	---	---	---	---	0	0
AKAP11	11215	broad.mit.edu	37	13	42875269	42875269	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr13:42875269C>A	ENST00000025301.2	+	8	2562	c.2387C>A	c.(2386-2388)tCt>tAt	p.S796Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	796					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CATATTTCATCTACTGCATGT	0.428													7	86	---	---	---	---	0	0
MLH3	27030	broad.mit.edu	37	14	75514215	75514215	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr14:75514215G>A	ENST00000355774.2	-	2	2359	c.2144C>T	c.(2143-2145)cCc>cTc	p.P715L	MLH3_ENST00000238662.7_Missense_Mutation_p.P715L|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.P715L|MLH3_ENST00000556257.1_Missense_Mutation_p.P715L	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	715					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGGGAAAGAGGGGGATGTATC	0.383								Mismatch excision repair (MMR)					11	112	---	---	---	---	0	0
DLL4	54567	broad.mit.edu	37	15	41227101	41227101	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr15:41227101G>C	ENST00000249749.5	+	8	1302	c.1026G>C	c.(1024-1026)caG>caC	p.Q342H		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	342	EGF-like 4.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCCAGGACCAGGAGGATGGCT	0.607													4	100	---	---	---	---	0	0
ZFHX3	463	broad.mit.edu	37	16	72845836	72845836	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr16:72845836G>T	ENST00000268489.5	-	6	4303	c.3631C>A	c.(3631-3633)Cca>Aca	p.P1211T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P297T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1211					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGTTTTTGGTCGCTTCGAA	0.532													8	134	---	---	---	---	0	0
ZNF18	7566	broad.mit.edu	37	17	11881383	11881383	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr17:11881383T>C	ENST00000322748.3	-	9	2145	c.1541A>G	c.(1540-1542)cAc>cGc	p.H514R	ZNF18_ENST00000580306.2_Missense_Mutation_p.H514R|ZNF18_ENST00000454073.3_Missense_Mutation_p.H513R	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	514					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CTCTCCAGTGTGAACCCTCTG	0.423													7	96	---	---	---	---	0	0
AP2B1	163	broad.mit.edu	37	17	33977804	33977804	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr17:33977804G>A	ENST00000262325.7	+	13	2345	c.1792G>A	c.(1792-1794)Ggg>Agg	p.G598R	AP2B1_ENST00000537622.2_Missense_Mutation_p.G598R|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598R|AP2B1_ENST00000592545.1_Missense_Mutation_p.G560R|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541R|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598R|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	598	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AATTCATCATGGGAGGTAAGA	0.423													5	86	---	---	---	---	0	0
AP2B1	163	broad.mit.edu	37	17	33977805	33977805	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr17:33977805G>A	ENST00000262325.7	+	13	2346	c.1793G>A	c.(1792-1794)gGg>gAg	p.G598E	AP2B1_ENST00000537622.2_Missense_Mutation_p.G598E|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598E|AP2B1_ENST00000592545.1_Missense_Mutation_p.G560E|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541E|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598E|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	598	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATTCATCATGGGAGGTAAGAA	0.418													4	86	---	---	---	---	0	0
PTPRS	5802	broad.mit.edu	37	19	5210793	5210793	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr19:5210793G>C	ENST00000372412.4	-	34	5494	c.5261C>G	c.(5260-5262)aCa>aGa	p.T1754R	PTPRS_ENST00000357368.4_Missense_Mutation_p.T1753R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1733R|PTPRS_ENST00000587303.1_Missense_Mutation_p.T1753R|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1715R|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1715R|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1306R|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1306R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1753	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGGCCCCTGTGTCGCGATGTA	0.657													3	33	---	---	---	---	0	0
CYP4F3	4051	broad.mit.edu	37	19	15757912	15757912	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr19:15757912C>A	ENST00000221307.8	+	4	441	c.394C>A	c.(394-396)Ctg>Atg	p.L132M	CYP4F3_ENST00000586182.2_Missense_Mutation_p.L132M|CYP4F3_ENST00000585846.1_Missense_Mutation_p.L132M|CYP4F3_ENST00000591058.1_Missense_Mutation_p.L132M	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAAGCCCTGGCTGGGTGAGTA	0.582													5	114	---	---	---	---	0	0
PLCB1	23236	broad.mit.edu	37	20	8862290	8862290	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr20:8862290G>C	ENST00000338037.6	+	32	3472	c.3445G>C	c.(3445-3447)Gaa>Caa	p.E1149Q	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1149					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCTGGAGCAAGAATACCAAGA	0.453													5	163	---	---	---	---	0	0
UBE2L3	7332	broad.mit.edu	37	22	21947210	21947210	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr22:21947210G>C	ENST00000342192.4	+	2	286	c.88G>C	c.(88-90)Gct>Cct	p.A30P	UBE2L3_ENST00000545681.1_Intron|UBE2L3_ENST00000458578.2_Missense_Mutation_p.A88P	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	30					cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					GGTTGATGAAGCTAATTTATT	0.418													3	43	---	---	---	---	0	0
ARSD	414	broad.mit.edu	37	X	2838677	2838677	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:2838677A>C	ENST00000381154.1	-	4	479	c.404T>G	c.(403-405)aTc>aGc	p.I135S	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	135						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCTGCAAGATTCTTGCAAA	0.527													4	23	---	---	---	---	0	0
HDHD1	8226	broad.mit.edu	37	X	7023871	7023871	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:7023871G>A	ENST00000381077.5	-	2	146	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	HDHD1_ENST00000424830.2_Missense_Mutation_p.R47W|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000540122.1_Missense_Mutation_p.R24W|HDHD1_ENST00000412827.2_Missense_Mutation_p.R24W	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	24					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						GAATACAGCCGTTCAGTATCT	0.393													3	10	---	---	---	---	0	0
STAG2	10735	broad.mit.edu	37	X	123179076	123179076	+	Silent	SNP	T	T	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:123179076T>C	ENST00000371160.1	+	8	815	c.525T>C	c.(523-525)ttT>ttC	p.F175F	STAG2_ENST00000371157.3_Silent_p.F175F|STAG2_ENST00000371144.3_Silent_p.F175F|STAG2_ENST00000371145.3_Silent_p.F175F|STAG2_ENST00000354548.5_Silent_p.F106F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.F175F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	175					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATCCAGTTTTTGTGAATTCA	0.343													18	157	---	---	---	---	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639452	149639452	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:149639452C>G	ENST00000370401.2	+	4	1917	c.1607C>G	c.(1606-1608)cCa>cGa	p.P536R	MAMLD1_ENST00000455522.2_Missense_Mutation_p.P17R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.P511R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P536R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P511R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	536					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCCACGGAGCCATTTACTTTT	0.542													13	32	---	---	---	---	0	0
MACF1	23499	broad.mit.edu	37	1	39798764	39798764	+	Silent	SNP	T	T	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr1:39798764T>C	ENST00000564288.1	+	37	7281	c.6504T>C	c.(6502-6504)ttT>ttC	p.F2168F	MACF1_ENST00000567887.1_Silent_p.F2205F|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.F608F|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Silent_p.F2173F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2173					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACACTTCCTTTACATGTCAGA	0.403													15	38	---	---	---	---	0	0
COBLL1	22837	broad.mit.edu	37	2	165551962	165551962	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr2:165551962G>A	ENST00000375458.2	-	11	2161	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	COBLL1_ENST00000409184.3_Missense_Mutation_p.S685L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S752L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S685L|COBLL1_ENST00000392717.2_Missense_Mutation_p.S723L	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	723										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGAATCTTGTGAACTTAAGCA	0.368													31	81	---	---	---	---	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677083	219677083	+	Silent	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr2:219677083G>A	ENST00000258415.4	+	3	1012	c.585G>A	c.(583-585)gaG>gaA	p.E195E		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	195					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGCGGGCAGAGAGTGCTTCGG	0.557													21	97	---	---	---	---	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266101	41266101	+	Missense_Mutation	SNP	C	C	A	rs121913416		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:41266101C>A	ENST00000349496.5	+	3	378	c.98C>A	c.(97-99)tCt>tAt	p.S33Y	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TACCTGGACTCTGGAATCCAT	0.488	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				9	39	---	---	---	---	0	0
TAGLN3	29114	broad.mit.edu	37	3	111719684	111719684	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:111719684G>C	ENST00000393917.2	+	3	798	c.246G>C	c.(244-246)gaG>gaC	p.E82D	TAGLN3_ENST00000455401.2_Missense_Mutation_p.E82D|TAGLN3_ENST00000478951.1_Missense_Mutation_p.E82D|TAGLN3_ENST00000486460.1_5'UTR|TAGLN3_ENST00000273368.4_Missense_Mutation_p.E82D	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	82	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						AGATCTCAGAGTCAAAGATGG	0.478													4	243	---	---	---	---	0	0
ZNF148	7707	broad.mit.edu	37	3	124997998	124997998	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:124997998G>T	ENST00000360647.4	-	6	1038	c.553C>A	c.(553-555)Cac>Aac	p.H185N	ZNF148_ENST00000485866.1_Missense_Mutation_p.H185N|ZNF148_ENST00000492394.1_Missense_Mutation_p.H185N|ZNF148_ENST00000484491.1_Missense_Mutation_p.H185N|SLC12A8_ENST00000423114.2_Silent_p.I8I|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	185					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CTCTGTAAGTGATAGTTCGTT	0.358													40	57	---	---	---	---	0	0
LONRF1	91694	broad.mit.edu	37	8	12586450	12586450	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr8:12586450C>A	ENST00000398246.3	-	10	2039	c.1970G>T	c.(1969-1971)gGa>gTa	p.G657V	LONRF1_ENST00000533751.1_Missense_Mutation_p.G300V|LONRF1_ENST00000525024.1_Missense_Mutation_p.G83V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	657	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AGTGCAATATCCATCTTTCAT	0.393													26	46	---	---	---	---	0	0
RMDN1	51115	broad.mit.edu	37	8	87487083	87487083	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr8:87487083T>C	ENST00000406452.3	-	9	1019	c.860A>G	c.(859-861)aAg>aGg	p.K287R	RMDN1_ENST00000519966.1_Missense_Mutation_p.K244R|RMDN1_ENST00000430676.2_Missense_Mutation_p.K257R|RMDN1_ENST00000523911.1_Missense_Mutation_p.K230R	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1																		TGGATAGTCCTTGGCTTTCAT	0.383													49	96	---	---	---	---	0	0
SORCS3	22986	broad.mit.edu	37	10	106802875	106802875	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:106802875C>A	ENST00000369701.3	+	5	1244	c.1017C>A	c.(1015-1017)aaC>aaA	p.N339K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	339						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCACACCCAACAGGTTTTATT	0.433													5	71	---	---	---	---	0	0
SORCS3	22986	broad.mit.edu	37	10	106802876	106802876	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:106802876A>G	ENST00000369701.3	+	5	1245	c.1018A>G	c.(1018-1020)Agg>Ggg	p.R340G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	340						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CACACCCAACAGGTTTTATTG	0.433													6	68	---	---	---	---	0	0
SORCS3	22986	broad.mit.edu	37	10	106802882	106802882	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:106802882T>A	ENST00000369701.3	+	5	1251	c.1024T>A	c.(1024-1026)Tat>Aat	p.Y342N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	342						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAACAGGTTTTATTGGTAAGC	0.438													7	69	---	---	---	---	0	0
MUC6	4588	broad.mit.edu	37	11	1023628	1023628	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr11:1023628G>A	ENST00000421673.2	-	26	3457	c.3407C>T	c.(3406-3408)aCg>aTg	p.T1136M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1136					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCGTGTGCGTGTTGTAGAA	0.662													4	25	---	---	---	---	0	0
NPAT	4863	broad.mit.edu	37	11	108056136	108056136	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr11:108056136A>G	ENST00000278612.8	-	9	917	c.812T>C	c.(811-813)tTa>tCa	p.L271S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	271	Interaction with MIZF.|Mediates transcriptional activation.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTACCTAGTTAAAAATTTATT	0.264													6	16	---	---	---	---	0	0
TAS2R19	259294	broad.mit.edu	37	12	11175140	11175140	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr12:11175140T>C	ENST00000390673.2	-	1	79	c.31A>G	c.(31-33)Att>Gtt	p.I11V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	11					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACTACCAGAATTGATGAAATG	0.378													4	26	---	---	---	---	0	0
HNF1A	6927	broad.mit.edu	37	12	121416600	121416600	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr12:121416600C>T	ENST00000257555.6	+	1	255	c.29C>T	c.(28-30)aCg>aTg	p.T10M	HNF1A_ENST00000400024.2_Missense_Mutation_p.T10M|HNF1A_ENST00000541395.1_Missense_Mutation_p.T10M|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000543427.1_Intron|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000544413.1_Missense_Mutation_p.T10M|HNF1A_ENST00000402929.1_Missense_Mutation_p.T10M|HNF1A_ENST00000538626.1_Missense_Mutation_p.T10M			P20823	HNF1A_HUMAN	HNF1 homeobox A	10	Dimerization.				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Q9fs*11(1)|p.Q7_L12del(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGCTGCAGACGGAGCTCCTG	0.692									Hepatic Adenoma, Familial Clustering of				12	62	---	---	---	---	0	0
EP400	57634	broad.mit.edu	37	12	132445686	132445686	+	Silent	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr12:132445686C>T	ENST00000333577.4	+	2	631	c.522C>T	c.(520-522)agC>agT	p.S174S	EP400_ENST00000389561.2_Silent_p.S174S|EP400_ENST00000330386.6_Silent_p.S174S|EP400_ENST00000332482.4_Silent_p.S174S|EP400_ENST00000389562.2_Silent_p.S174S			Q96L91	EP400_HUMAN	E1A binding protein p400	174					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGATGCCAGCGTGCTGGTGA	0.667													5	18	---	---	---	---	0	0
MYO9A	4649	broad.mit.edu	37	15	72300187	72300187	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr15:72300187T>C	ENST00000356056.5	-	8	1832	c.1360A>G	c.(1360-1362)Att>Gtt	p.I454V	MYO9A_ENST00000444904.1_Missense_Mutation_p.I435V|MYO9A_ENST00000564571.1_Missense_Mutation_p.I454V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.I454V|MYO9A_ENST00000566885.1_Missense_Mutation_p.I49V|RP11-390D11.1_ENST00000568391.1_RNA	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	454	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGAGACAATAGGCAGAACT	0.323													18	35	---	---	---	---	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891286	29891286	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr16:29891286C>T	ENST00000308713.5	-	9	1999	c.1472G>A	c.(1471-1473)tGc>tAc	p.C491Y	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.C421Y|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.C447Y|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.C377Y	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	491	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTGGGAGGCACGAGAAGGT	0.617													15	93	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr17:47696426A>C	ENST00000393331.3	-	7	867	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			37	88	---	---	---	---	0	0
UBALD2	283991	broad.mit.edu	37	17	74266281	74266281	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr17:74266281A>G	ENST00000327490.6	+	3	494	c.190A>G	c.(190-192)Act>Gct	p.T64A	UBALD2_ENST00000589240.1_Missense_Mutation_p.T4A	NM_182565.3	NP_872371.1			UBA-like domain containing 2																		GCAGATGTGCACTCCCAGCAA	0.677													4	19	---	---	---	---	0	0
SLC17A7	57030	broad.mit.edu	37	19	49935776	49935776	+	Splice_Site	SNP	C	C	T	rs35127332		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr19:49935776C>T	ENST00000221485.3	-	9	1321	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	SLC17A7_ENST00000543531.1_Splice_Site_p.G372S|SLC17A7_ENST00000600601.1_Splice_Site_p.G317S	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	384					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCCCACTCACCTCCGCAGTTC	0.642													3	8	---	---	---	---	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605187	37605187	+	Silent	SNP	G	G	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr21:37605187G>C	ENST00000399151.3	+	15	2521	c.2436G>C	c.(2434-2436)gtG>gtC	p.V812V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	812					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCAGAACGTGGCCATTTCCA	0.498													16	116	---	---	---	---	0	0
ARID1A	8289	broad.mit.edu	37	1	27100117	27100117	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:27100117C>T	ENST00000324856.7	+	16	4284	c.3913C>T	c.(3913-3915)Cca>Tca	p.P1305S	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1305S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P922S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1305					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACTGGGGCCCCACAGCCGAA	0.577			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	61	---	---	---	---	0	0
LRRC7	57554	broad.mit.edu	37	1	70482159	70482159	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:70482159T>C	ENST00000310961.5	+	15	1581	c.1163T>C	c.(1162-1164)tTa>tCa	p.L388S	LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.L383S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	383						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGAAGAATTTACCATTCTCA	0.299													8	98	---	---	---	---	0	0
HRNR	388697	broad.mit.edu	37	1	152192453	152192453	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:152192453C>G	ENST00000368801.2	-	3	1727	c.1652G>C	c.(1651-1653)gGt>gCt	p.G551A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	551					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCCTGGAACCAGACTCATG	0.592													6	216	---	---	---	---	0	0
TMCC2	9911	broad.mit.edu	37	1	205238117	205238117	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:205238117G>A	ENST00000358024.3	+	3	1176	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	TMCC2_ENST00000329800.7_Missense_Mutation_p.G23S|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.G185S|TMCC2_ENST00000330675.7_Missense_Mutation_p.G38S	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	263						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCCGCCGGCCATGGTGA	0.662													9	74	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179476287	179476287	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr2:179476287T>G	ENST00000589042.1	-	269	50893	c.50669A>C	c.(50668-50670)gAa>gCa	p.E16890A	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8017A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15249A|TTN_ENST00000342992.6_Missense_Mutation_p.E14322A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7950A|TTN_ENST00000460472.2_Missense_Mutation_p.E7825A|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15249	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGACACATTTCAACATGGTA	0.423													53	78	---	---	---	---	0	0
EIF4E	1977	broad.mit.edu	37	4	99823091	99823091	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr4:99823091T>G	ENST00000450253.2	-	2	1585	c.61A>C	c.(61-63)Aaa>Caa	p.K21Q	EIF4E_ENST00000280892.6_Missense_Mutation_p.K41Q|EIF4E_ENST00000504432.1_Missense_Mutation_p.K49Q|EIF4E_ENST00000505992.1_Missense_Mutation_p.K21Q|EIF4E_ENST00000504472.1_5'UTR	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	21					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GATTCCGTTTTCTCCTCTTCT	0.388													55	90	---	---	---	---	0	0
HSPB3	8988	broad.mit.edu	37	5	53751722	53751722	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr5:53751722T>C	ENST00000302005.1	+	1	278	c.103T>C	c.(103-105)Tat>Cat	p.Y35H		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	35					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCATGCTTTATATGCACTGCC	0.542													29	65	---	---	---	---	0	0
UBAP2	55833	broad.mit.edu	37	9	33943522	33943522	+	Silent	SNP	C	C	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr9:33943522C>A	ENST00000379238.1	-	15	1728	c.1611G>T	c.(1609-1611)ggG>ggT	p.G537G	UBAP2_ENST00000539807.1_Silent_p.G292G|UBAP2_ENST00000379225.1_Silent_p.G170G|UBAP2_ENST00000418786.2_Silent_p.G484G|UBAP2_ENST00000360802.1_Silent_p.G537G|UBAP2_ENST00000449054.1_Silent_p.G537G|UBAP2_ENST00000379239.4_Silent_p.G270G			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	537										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTCCAGAGCCCCAAACTGCA	0.453													29	57	---	---	---	---	0	0
DNAJC25	548645	broad.mit.edu	37	9	114412196	114412196	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr9:114412196A>G	ENST00000313525.3	+	3	1009	c.953A>G	c.(952-954)aAt>aGt	p.N318S	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	318					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						ATCAAGGAGAATTATGAGGTG	0.373													14	13	---	---	---	---	0	0
HOGA1	112817	broad.mit.edu	37	10	99358577	99358577	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr10:99358577G>T	ENST00000370646.4	+	2	618	c.257G>T	c.(256-258)aGc>aTc	p.S86I	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						TTCCTGACCAGCAGTGAGCGC	0.597													4	97	---	---	---	---	0	0
PGR	5241	broad.mit.edu	37	11	100998642	100998642	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr11:100998642A>G	ENST00000325455.5	-	1	2613	c.1160T>C	c.(1159-1161)aTa>aCa	p.I387T	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.I387T	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	387	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTCCTCCTTTATCTTTAGAGC	0.677													14	14	---	---	---	---	0	0
CDKN1B	1027	broad.mit.edu	37	12	12871204	12871204	+	Nonsense_Mutation	SNP	T	T	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr12:12871204T>G	ENST00000228872.4	+	1	1147	c.431T>G	c.(430-432)tTa>tGa	p.L144*	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.L144*	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	144					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CAGACGGGGTTAGCGGAGCAA	0.597													4	16	---	---	---	---	0	0
UTP14C	9724	broad.mit.edu	37	13	52603570	52603570	+	Silent	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr13:52603570T>C	ENST00000521776.2	+	2	1363	c.630T>C	c.(628-630)tcT>tcC	p.S210S	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	210					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AAAAGGCCTCTCTCCAAGCCA	0.527													8	80	---	---	---	---	0	0
UTP14C	9724	broad.mit.edu	37	13	52603571	52603571	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr13:52603571C>T	ENST00000521776.2	+	2	1364	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	211					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AAAGGCCTCTCTCCAAGCCAT	0.522													8	78	---	---	---	---	0	0
UACA	55075	broad.mit.edu	37	15	70960750	70960750	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr15:70960750T>C	ENST00000322954.6	-	16	2458	c.2273A>G	c.(2272-2274)gAt>gGt	p.D758G	UACA_ENST00000539319.1_Missense_Mutation_p.D649G|UACA_ENST00000379983.2_Missense_Mutation_p.D745G|UACA_ENST00000560441.1_Missense_Mutation_p.D743G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	758						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AATAATTGCATCATGTGACTT	0.303													5	51	---	---	---	---	0	0
USP10	9100	broad.mit.edu	37	16	84793526	84793526	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr16:84793526T>C	ENST00000219473.7	+	7	1537	c.1424T>C	c.(1423-1425)aTg>aCg	p.M475T	USP10_ENST00000570191.1_Missense_Mutation_p.M479T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	475					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TTCACTAATATGCCAGTACCT	0.328													26	17	---	---	---	---	0	0
CNTROB	116840	broad.mit.edu	37	17	7836490	7836490	+	Silent	SNP	G	G	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:7836490G>T	ENST00000380262.3	+	1	1018	c.93G>T	c.(91-93)tcG>tcT	p.S31S	CNTROB_ENST00000565740.1_Silent_p.S31S|CNTROB_ENST00000563694.1_Silent_p.S31S|CNTROB_ENST00000380255.3_Silent_p.S31S	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	31					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ACCAAGTGTCGTCTGAAGTGA	0.612													50	87	---	---	---	---	0	0
TVP23C	201158	broad.mit.edu	37	17	15406355	15406355	+	Silent	SNP	C	C	A	rs150726968		TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:15406355C>A	ENST00000225576.3	-	6	749	c.654G>T	c.(652-654)gcG>gcT	p.A218A	TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2			trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TAAGGCGGGGCGCAGGTTTCC	0.597													15	26	---	---	---	---	0	0
NF1	4763	broad.mit.edu	37	17	29576014	29576014	+	Silent	SNP	A	A	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:29576014A>G	ENST00000358273.4	+	30	4370	c.3987A>G	c.(3985-3987)tcA>tcG	p.S1329S	NF1_ENST00000356175.3_Silent_p.S1329S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1329	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGAACCATCAGAGAGCCTTG	0.368			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	100	---	---	---	---	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47121347	47121347	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:47121347A>G	ENST00000290341.3	+	11	1553	c.1219A>G	c.(1219-1221)Atg>Gtg	p.M407V	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.M268V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	407	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGAGCAGGAGATGGTGCAGGT	0.617													43	48	---	---	---	---	0	0
COLEC12	81035	broad.mit.edu	37	18	347050	347050	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr18:347050T>C	ENST00000400256.3	-	5	779	c.572A>G	c.(571-573)aAt>aGt	p.N191S		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	191					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTTCTGCAGATTGCCCTGGAG	0.473													13	119	---	---	---	---	0	0
PSMA8	143471	broad.mit.edu	37	18	23713978	23713978	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr18:23713978C>A	ENST00000308268.6	+	1	138	c.49C>A	c.(49-51)Cac>Aac	p.H17N	PSMA8_ENST00000343848.6_Missense_Mutation_p.H17N|PSMA8_ENST00000415576.2_Missense_Mutation_p.H17N	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	17					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCCAGACGGACACCTTTTTCA	0.562													4	59	---	---	---	---	0	0
PSG1	0	broad.mit.edu	37	19	43372287	43372287	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr19:43372287C>A	ENST00000244296.2	-	5	1346	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	PSG1_ENST00000403380.3_Missense_Mutation_p.K310N|PSG1_ENST00000312439.6_Missense_Mutation_p.K403N|PSG1_ENST00000595124.1_Missense_Mutation_p.K310N|PSG1_ENST00000595356.1_Missense_Mutation_p.K403N|PSG1_ENST00000436291.2_Missense_Mutation_p.K403N	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGAGCTTTCCTTGCCAGTGG	0.458													95	177	---	---	---	---	0	0
NLRP7	199713	broad.mit.edu	37	19	55451127	55451127	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr19:55451127C>T	ENST00000446217.1	-	6	1546	c.1144G>A	c.(1144-1146)Gcg>Acg	p.A382T	NLRP7_ENST00000590030.1_Missense_Mutation_p.A354T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A354T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A354T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A354T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A354T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A354T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	354	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AACAGGGCCGCGTTGCTCCTC	0.627													17	28	---	---	---	---	0	0
FRG1B	0	broad.mit.edu	37	20	29632660	29632660	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr20:29632660G>A	ENST00000278882.3	+	8	855	c.475G>A	c.(475-477)Gag>Aag	p.E159K	FRG1B_ENST00000358464.4_Missense_Mutation_p.E159K																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGTAAAGAAGAGAGTAAAAT	0.318													6	623	---	---	---	---	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39439011	39439011	+	Silent	SNP	T	T	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr22:39439011T>G	ENST00000308521.5	+	2	444	c.87T>G	c.(85-87)cgT>cgG	p.R29R	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Silent_p.R29R	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	29					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TCCTTTCTCGTCGGAATACCG	0.488													4	54	---	---	---	---	0	0
MED12	9968	broad.mit.edu	37	X	70349255	70349255	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chrX:70349255G>C	ENST00000333646.6	+	26	3866	c.3667G>C	c.(3667-3669)Gtt>Ctt	p.V1223L	MED12_ENST00000374102.1_Missense_Mutation_p.V1223L|MED12_ENST00000374080.3_Missense_Mutation_p.V1223L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1223					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGTGTTTGCTGTTCTCAAGGC	0.572			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	3	---	---	---	---	0	0
PIK3CD	5293	broad.mit.edu	37	1	9775907	9775907	+	Splice_Site	SNP	G	G	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr1:9775907G>A	ENST00000536656.1	+	5	579	c.371G>A	c.(370-372)gGc>gAc	p.G124D	PIK3CD_ENST00000377346.4_Splice_Site_p.G124D|PIK3CD_ENST00000361110.2_Splice_Site_p.G124D			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	124					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CACCCCGCAGGCCTCCACGAG	0.682													3	24	---	---	---	---	0	0
EFCAB7	84455	broad.mit.edu	37	1	63991268	63991268	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr1:63991268G>A	ENST00000371088.4	+	2	271	c.25G>A	c.(25-27)Gca>Aca	p.A9T		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	9							calcium ion binding	p.A9T(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						ACGAAGCGATGCAACTTTCTC	0.358													6	100	---	---	---	---	0	0
TRIM43	129868	broad.mit.edu	37	2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular	zinc ion binding	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398													4	50	---	---	---	---	0	0
ZAP70	7535	broad.mit.edu	37	2	98355918	98355918	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:98355918G>A	ENST00000264972.5	+	14	2032	c.1817G>A	c.(1816-1818)gGg>gAg	p.G606E	ZAP70_ENST00000451498.2_Missense_Mutation_p.G299E|ZAP70_ENST00000442208.1_Missense_Mutation_p.G480E|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	606					immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AAGGTGGAAGGGCCCCCAGGC	0.687													17	19	---	---	---	---	0	0
XIRP2	129446	broad.mit.edu	37	2	168067309	168067309	+	Translation_Start_Site	SNP	T	T	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:168067309T>A	ENST00000409273.1	+	0	314				XIRP2_ENST00000420519.1_Silent_p.G242G|XIRP2_ENST00000409605.1_De_novo_Start_InFrame|XIRP2_ENST00000409728.1_Silent_p.G242G|XIRP2_ENST00000409043.1_Silent_p.G209G|XIRP2_ENST00000295237.9_Silent_p.G209G|XIRP2_ENST00000409195.1_Silent_p.G209G|XIRP2_ENST00000409756.2_Silent_p.G209G	NM_001199144.1	NP_001186073.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2						actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGGGCGAGGGTGTGTCAGACC	0.552													60	60	---	---	---	---	0	0
STAT4	6775	broad.mit.edu	37	2	191897829	191897829	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr2:191897829C>A	ENST00000392320.2	-	21	2213	c.1899G>T	c.(1897-1899)ttG>ttT	p.L633F	STAT4_ENST00000358470.4_Missense_Mutation_p.L633F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	633	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GCAGAGCAGACAACCGGCCTT	0.428													29	30	---	---	---	---	0	0
POLQ	10721	broad.mit.edu	37	3	121248495	121248495	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr3:121248495C>T	ENST00000264233.5	-	7	1233	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	369	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AACTCACCCTCAGCTTGATGA	0.358								DNA polymerases (catalytic subunits)					4	103	---	---	---	---	0	0
SEL1L3	23231	broad.mit.edu	37	4	25785888	25785888	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr4:25785888G>C	ENST00000399878.3	-	14	2364	c.2242C>G	c.(2242-2244)Cgg>Ggg	p.R748G	SEL1L3_ENST00000264868.5_Missense_Mutation_p.R713G|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R595G	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	748						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGGCAAGCCGTCTGTTCTTT	0.438													93	141	---	---	---	---	0	0
EDNRA	1909	broad.mit.edu	37	4	148453712	148453712	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr4:148453712A>G	ENST00000339690.5	+	3	1005	c.475A>G	c.(475-477)Aac>Gac	p.N159D	EDNRA_ENST00000324300.5_Silent_p.V201V|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000511804.1_5'UTR			P25101	EDNRA_HUMAN	endothelin receptor type A	0					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TTCCTTTGGTAACTGCCATTG	0.443													55	90	---	---	---	---	0	0
SEC63	11231	broad.mit.edu	37	6	108214759	108214759	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr6:108214759T>G	ENST00000369002.4	-	16	1780	c.1601A>C	c.(1600-1602)aAa>aCa	p.K534T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	534	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TGTAGGTTTTTTTTTTAAAGG	0.358													73	84	---	---	---	---	0	0
ABCA13	154664	broad.mit.edu	37	7	48314144	48314144	+	Silent	SNP	T	T	C			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr7:48314144T>C	ENST00000435803.1	+	17	4905	c.4881T>C	c.(4879-4881)gcT>gcC	p.A1627A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1627					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAATGAAAGCTACAGGTCTTG	0.368													68	84	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113599319	113599319	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr8:113599319A>C	ENST00000297405.5	-	23	4105	c.3861T>G	c.(3859-3861)caT>caG	p.H1287Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.H1247Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1287Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1183Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1287	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTGTGCTAAATGAAATGTTC	0.308										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	26	---	---	---	---	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007388	6007388	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr9:6007388C>A	ENST00000399933.3	-	1	399	c.400G>T	c.(400-402)Gga>Tga	p.G134*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.G134*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	134										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGCCCTGTCCGGGCTGCTGC	0.692													10	14	---	---	---	---	0	0
CDK20	23552	broad.mit.edu	37	9	90585482	90585482	+	Splice_Site	SNP	C	C	G			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr9:90585482C>G	ENST00000325303.8	-	5	869		c.e5+1		CDK20_ENST00000336654.5_Intron|CDK20_ENST00000375883.3_Intron|CDK20_ENST00000605159.1_Intron|CDK20_ENST00000375871.4_Intron	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20						cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AGGGGTCTCACCACAGATCGA	0.592													7	21	---	---	---	---	0	0
PALD1	27143	broad.mit.edu	37	10	72291081	72291081	+	Silent	SNP	G	G	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr10:72291081G>A	ENST00000263563.6	+	5	772	c.504G>A	c.(502-504)gtG>gtA	p.V168V		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		AGGAACCTGTGCTTTTCCTGC	0.592													22	46	---	---	---	---	0	0
ATG2A	23130	broad.mit.edu	37	11	64678137	64678137	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr11:64678137C>T	ENST00000421419.2	-	12	1772	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	ATG2A_ENST00000377264.3_Missense_Mutation_p.R553Q			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	553							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCGCAGGGCCGAGCTGAGGC	0.677													5	8	---	---	---	---	0	0
UBE3B	89910	broad.mit.edu	37	12	109948242	109948242	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr12:109948242C>G	ENST00000342494.3	+	17	2430	c.1835C>G	c.(1834-1836)cCc>cGc	p.P612R	UBE3B_ENST00000434735.2_Missense_Mutation_p.P612R|UBE3B_ENST00000280774.5_Missense_Mutation_p.P612R|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	612					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CGCTTCACCCCCGAGGACCAC	0.647													6	10	---	---	---	---	0	0
FAM101A	144347	broad.mit.edu	37	12	124798835	124798835	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr12:124798835G>A	ENST00000324038.3	+	3	415	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	FAM101A_ENST00000338359.4_Missense_Mutation_p.V58M|FAM101A_ENST00000546355.1_Missense_Mutation_p.V58M|FAM101A_ENST00000389727.3_Missense_Mutation_p.V139M	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	139										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CGAGACCATCGTGGCAGCACC	0.637													4	99	---	---	---	---	0	0
MDGA2	161357	broad.mit.edu	37	14	47600972	47600972	+	Silent	SNP	C	C	T			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr14:47600972C>T	ENST00000399232.2	-	5	1027	c.663G>A	c.(661-663)agG>agA	p.R221R	MDGA2_ENST00000439988.3_Silent_p.R290R|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000357362.3_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	152	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TACATACATTCCTCACTGAAG	0.328													42	50	---	---	---	---	0	0
GLDN	342035	broad.mit.edu	37	15	51696652	51696652	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr15:51696652G>C	ENST00000335449.6	+	10	1413	c.1357G>C	c.(1357-1359)Gat>Cat	p.D453H	GLDN_ENST00000396399.2_Missense_Mutation_p.D329H	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	453	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGCACAACTGGATGAGAGGAC	0.463													29	87	---	---	---	---	0	0
MKL2	57496	broad.mit.edu	37	16	14355248	14355248	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr16:14355248A>G	ENST00000571589.1	+	17	3419	c.3247A>G	c.(3247-3249)Atg>Gtg	p.M1083V	MKL2_ENST00000574045.1_Missense_Mutation_p.M1033V|MKL2_ENST00000341243.5_Missense_Mutation_p.M1072V|MKL2_ENST00000318282.5_Missense_Mutation_p.M1033V	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	1072					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCGCCGAGCATGTTCTCTGC	0.502													20	49	---	---	---	---	0	0
ENKD1	84080	broad.mit.edu	37	16	67699024	67699024	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr16:67699024C>A	ENST00000243878.4	-	3	649	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ENKD1_ENST00000602409.1_5'UTR|ENKD1_ENST00000602644.1_Nonsense_Mutation_p.E110*	NM_032140.1	NP_115516.1			enkurin domain containing 1																		TTCTGAATCTCCCTGATCCGC	0.602													8	102	---	---	---	---	0	0
MCM8	84515	broad.mit.edu	37	20	5965438	5965438	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr20:5965438C>A	ENST00000378896.3	+	15	2122	c.1745C>A	c.(1744-1746)gCa>gAa	p.A582E	MCM8_ENST00000378886.2_Missense_Mutation_p.A622E|MCM8_ENST00000265187.4_Missense_Mutation_p.A566E|MCM8_ENST00000378883.1_Missense_Mutation_p.A535E	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	582	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ATGGGGAGTGCACTACTATCC	0.353													4	60	---	---	---	---	0	0
BPIFA1	51297	broad.mit.edu	37	20	31825867	31825867	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr20:31825867G>A	ENST00000354297.4	+	3	238	c.167G>A	c.(166-168)aGc>aAc	p.S56N	BPIFA1_ENST00000375413.4_Missense_Mutation_p.S56N|BPIFA1_ENST00000375422.2_Missense_Mutation_p.S56N	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	56					innate immune response	extracellular region	lipid binding										CCAGCCCTCAGCAATGGCCTG	0.602													15	22	---	---	---	---	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421621	62421621	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr20:62421621C>T	ENST00000245663.4	-	2	640	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	ZBTB46_ENST00000302995.2_Missense_Mutation_p.G164R|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G164R	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					ATGCTCCTCCCAGCCATCACG	0.637													11	20	---	---	---	---	0	0
PCNT	5116	broad.mit.edu	37	21	47847672	47847672	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr21:47847672C>T	ENST00000359568.5	+	34	7564	c.7457C>T	c.(7456-7458)tCc>tTc	p.S2486F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2486					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGTCACAGCTCCCTGCTCGAA	0.607													7	23	---	---	---	---	0	0
AJAP1	55966	broad.mit.edu	37	1	4772618	4772618	+	Missense_Mutation	SNP	A	A	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:4772618A>G	ENST00000378191.4	+	2	1069	c.688A>G	c.(688-690)Acg>Gcg	p.T230A	AJAP1_ENST00000378190.3_Missense_Mutation_p.T230A	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	230	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		cacccccaTGACGCTGCAGAC	0.617													23	13	---	---	---	---	0	0
METTL13	51603	broad.mit.edu	37	1	171761209	171761209	+	Silent	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:171761209C>T	ENST00000361735.3	+	6	1793	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	METTL13_ENST00000362019.3_Silent_p.L423L|METTL13_ENST00000458517.1_Silent_p.L508L|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Silent_p.L353L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	509							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GCCTCCCCCTCTTTGTCCACG	0.527													48	70	---	---	---	---	0	0
MDM4	4194	broad.mit.edu	37	1	204501935	204501935	+	Missense_Mutation	SNP	G	G	C			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr1:204501935G>C	ENST00000367180.1	+	5	411	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	MDM4_ENST00000367182.3_Intron|MDM4_ENST00000463049.1_Intron|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000391947.2_Intron|MDM4_ENST00000454264.2_Intron			O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	0					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ccacgctctagagttggcaga	0.313			A		"""GBM, bladder, retinoblastoma"""								44	68	---	---	---	---	0	0
IL1B	3553	broad.mit.edu	37	2	113593795	113593795	+	Silent	SNP	T	T	C			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr2:113593795T>C	ENST00000263341.2	-	2	222	c.12A>G	c.(10-12)gtA>gtG	p.V4V	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	4					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CGAGCTCAGGTACTTCTGCCA	0.473													41	54	---	---	---	---	0	0
THSD7B	80731	broad.mit.edu	37	2	138413129	138413129	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr2:138413129G>A	ENST00000409968.1	+	22	4182	c.4004G>A	c.(4003-4005)gGt>gAt	p.G1335D	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1338D|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1307D					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCCACAGTGGTTCAATATCT	0.502													9	15	---	---	---	---	0	0
SCN10A	6336	broad.mit.edu	37	3	38763822	38763822	+	Missense_Mutation	SNP	C	C	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr3:38763822C>A	ENST00000449082.2	-	19	3433	c.3434G>T	c.(3433-3435)tGc>tTc	p.C1145F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1145					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GATACGGTAGCAAGTCTTGCG	0.567													43	57	---	---	---	---	0	0
ATP13A3	79572	broad.mit.edu	37	3	194146084	194146084	+	Silent	SNP	A	A	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr3:194146084A>G	ENST00000439040.1	-	30	4091	c.3300T>C	c.(3298-3300)ccT>ccC	p.P1100P	ATP13A3_ENST00000256031.4_Silent_p.P1100P			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1100					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTTTGTAGCAAGGTTGCCTGA	0.338													20	43	---	---	---	---	0	0
EGF	1950	broad.mit.edu	37	4	110864507	110864507	+	Missense_Mutation	SNP	T	T	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr4:110864507T>G	ENST00000265171.5	+	3	870	c.425T>G	c.(424-426)gTa>gGa	p.V142G	EGF_ENST00000509793.1_Missense_Mutation_p.V142G|EGF_ENST00000503392.1_Missense_Mutation_p.V142G|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	142					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ATCATTACAGTAACAGATATG	0.313													58	76	---	---	---	---	0	0
PCDH18	54510	broad.mit.edu	37	4	138453022	138453022	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr4:138453022G>A	ENST00000344876.4	-	1	607	c.221C>T	c.(220-222)tCt>tTt	p.S74F	PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S74F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	74	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAGTAGAGGAGAATTTCCCCT	0.428													4	146	---	---	---	---	0	0
CDH12	1010	broad.mit.edu	37	5	21802288	21802288	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr5:21802288C>T	ENST00000382254.1	-	10	2330	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N	CDH12_ENST00000504376.2_Missense_Mutation_p.S415N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S375N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	415	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AACAGCACTGCTGCCTACATC	0.433										HNSCC(59;0.17)			39	32	---	---	---	---	0	0
RAB24	53917	broad.mit.edu	37	5	176728925	176728925	+	Splice_Site	SNP	C	C	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr5:176728925C>G	ENST00000303270.6	-	6	1063		c.e6+1		RAB24_ENST00000393611.2_Splice_Site|RAB24_ENST00000303251.6_Splice_Site			Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family						autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	p.?(1)				all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGCACACACCTGTCATCAC	0.537													29	44	---	---	---	---	0	0
PRSS3P2	0	broad.mit.edu	37	7	142479980	142479980	+	RNA	SNP	C	C	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr7:142479980C>A	ENST00000603901.1	+	0	112					NR_001296.3																						TGTCCCCTACCAGGTGTCCTT	0.552													63	131	---	---	---	---	0	0
KIAA1429	25962	broad.mit.edu	37	8	95507178	95507178	+	Silent	SNP	G	G	C			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr8:95507178G>C	ENST00000297591.5	-	20	4626	c.4551C>G	c.(4549-4551)gcC>gcG	p.A1517A	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1517					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAAGCACATAGGCAGTCCTGG	0.368													7	213	---	---	---	---	0	0
KANK1	23189	broad.mit.edu	37	9	731264	731264	+	Silent	SNP	A	A	C			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr9:731264A>C	ENST00000382303.1	+	9	3655	c.3003A>C	c.(3001-3003)ggA>ggC	p.G1001G	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.G843G|KANK1_ENST00000382297.2_Silent_p.G1001G	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1001					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCATTAATGGAGGGTAAGGAA	0.438													11	24	---	---	---	---	0	0
USP20	0	broad.mit.edu	37	9	132630711	132630711	+	Missense_Mutation	SNP	G	G	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr9:132630711G>T	ENST00000315480.4	+	11	1276	c.1118G>T	c.(1117-1119)aGc>aTc	p.S373I	USP20_ENST00000372429.3_Missense_Mutation_p.S373I|USP20_ENST00000358355.1_Missense_Mutation_p.S373I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	373					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGGTCCTCCAGCCCCTGCCGG	0.682													3	43	---	---	---	---	0	0
CTSC	1075	broad.mit.edu	37	11	88068157	88068157	+	Missense_Mutation	SNP	T	T	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr11:88068157T>A	ENST00000524463.1	-	2	354	c.266A>T	c.(265-267)aAc>aTc	p.N89I	CTSC_ENST00000227266.5_Missense_Mutation_p.N89I|CTSC_ENST00000529974.1_Missense_Mutation_p.N89I|CTSC_ENST00000393301.4_5'UTR	NM_001114173.1|NM_148170.3	NP_001107645.1|NP_680475.1	P53634	CATC_HUMAN	cathepsin C	89					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAGCCTTGGTTGTAAATGAT	0.363													29	31	---	---	---	---	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716213	13716213	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:13716213C>T	ENST00000609686.1	-	13	4168	c.3959G>A	c.(3958-3960)cGc>cAc	p.R1320H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTTACGCTGCGCGGGGCCAG	0.582													49	48	---	---	---	---	0	0
TWF1	5756	broad.mit.edu	37	12	44190803	44190803	+	Missense_Mutation	SNP	T	T	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:44190803T>A	ENST00000395510.2	-	8	987	c.858A>T	c.(856-858)caA>caT	p.Q286H	TWF1_ENST00000548315.1_Missense_Mutation_p.Q293H|TWF1_ENST00000325127.4_Missense_Mutation_p.Q320H|TWF1_ENST00000552521.1_Missense_Mutation_p.Q188H	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	286	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		CCATTTGTAGTTGTCTTTCTA	0.338													31	36	---	---	---	---	0	0
NAV3	89795	broad.mit.edu	37	12	78415542	78415542	+	Missense_Mutation	SNP	T	T	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr12:78415542T>A	ENST00000397909.2	+	9	2096	c.1923T>A	c.(1921-1923)aaT>aaA	p.N641K	NAV3_ENST00000536525.2_Missense_Mutation_p.N641K|NAV3_ENST00000266692.7_Missense_Mutation_p.N641K|NAV3_ENST00000228327.6_Missense_Mutation_p.N641K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	641						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTCAGAAAATGAAGGTACCG	0.388										HNSCC(70;0.22)			4	91	---	---	---	---	0	0
PSMB11	122706	broad.mit.edu	37	14	23511486	23511486	+	Missense_Mutation	SNP	T	T	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr14:23511486T>A	ENST00000408907.2	+	1	111	c.52T>A	c.(52-54)Tca>Aca	p.S18T		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCAGGGACCATCACCTCACCT	0.622													55	75	---	---	---	---	0	0
MPRIP	23164	broad.mit.edu	37	17	17075149	17075149	+	Missense_Mutation	SNP	C	C	G			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr17:17075149C>G	ENST00000395811.5	+	16	2370	c.2281C>G	c.(2281-2283)Cta>Gta	p.L761V	MPRIP_ENST00000395804.3_Missense_Mutation_p.L761V|MPRIP_ENST00000444976.1_Missense_Mutation_p.L723V|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Missense_Mutation_p.L761V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	761	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGACCGCCTCCTAGCCGAGGA	0.557													21	31	---	---	---	---	0	0
KRT27	342574	broad.mit.edu	37	17	38936652	38936652	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr17:38936652C>T	ENST00000301656.3	-	3	624	c.584G>A	c.(583-585)cGa>cAa	p.R195Q		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	195	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.R195Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAGGACTCTTCGCAAACCATT	0.478													12	31	---	---	---	---	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46054119	46054119	+	Silent	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr17:46054119G>A	ENST00000536708.2	+	9	1024	c.915G>A	c.(913-915)ggG>ggA	p.G305G	CDK5RAP3_ENST00000338399.4_Silent_p.G280G	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	280					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TGTCTGAGGGGACTGACTCTG	0.537													30	7	---	---	---	---	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6311576	6311576	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr18:6311576G>A	ENST00000400104.3	-	3	249	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	L3MBTL4_ENST00000284898.6_Missense_Mutation_p.R17C|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R17C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R17C			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	17					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGATCCAAACGCTCTTTGGAA	0.478													18	180	---	---	---	---	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561290	44561290	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr18:44561290C>T	ENST00000332567.4	-	1	698	c.346G>A	c.(346-348)Gcg>Acg	p.A116T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	116					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.A116T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGCCGTCGCGTTTTCTGGG	0.662													4	78	---	---	---	---	0	0
BRSK1	84446	broad.mit.edu	37	19	55805438	55805438	+	Missense_Mutation	SNP	G	G	A			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr19:55805438G>A	ENST00000309383.1	+	5	789	c.512G>A	c.(511-513)cGc>cAc	p.R171H	BRSK1_ENST00000590333.1_Missense_Mutation_p.R187H|BRSK1_ENST00000585418.1_Missense_Mutation_p.R171H	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	171	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AACAACATCCGCATTGCAGAC	0.622													7	346	---	---	---	---	0	0
PCSK2	5126	broad.mit.edu	37	20	17462324	17462324	+	Missense_Mutation	SNP	C	C	T			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr20:17462324C>T	ENST00000262545.2	+	12	1841	c.1526C>T	c.(1525-1527)gCt>gTt	p.A509V	PCSK2_ENST00000536609.1_Missense_Mutation_p.A474V|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.A490V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	509					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATGTCCAGGCTGTCATCACG	0.532													16	30	---	---	---	---	0	0
MYSM1	114803	broad.mit.edu	37	1	59126842	59126842	+	Splice_Site	SNP	T	T	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr1:59126842T>G	ENST00000472487.1	-	19	2367	c.2328A>C	c.(2326-2328)aaA>aaC	p.K776N	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	776					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					GACAGCTTACTTTCTGCAAAC	0.378													5	27	---	---	---	---	0	0
DISP1	84976	broad.mit.edu	37	1	223178296	223178296	+	Missense_Mutation	SNP	A	A	T			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr1:223178296A>T	ENST00000284476.6	+	8	3721	c.3557A>T	c.(3556-3558)gAa>gTa	p.E1186V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1186					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCAAAATCTGAACTGGAGCAT	0.458													5	59	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228486309	228486309	+	Silent	SNP	G	G	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr1:228486309G>A	ENST00000570156.2	+	49	13175	c.13101G>A	c.(13099-13101)caG>caA	p.Q4367Q	OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Silent_p.Q1057Q|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3410	Ig-like 45.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCTGAAGCAGGATGGGACGA	0.582													5	58	---	---	---	---	0	0
ZNF512	84450	broad.mit.edu	37	2	27838080	27838080	+	Missense_Mutation	SNP	C	C	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr2:27838080C>G	ENST00000355467.4	+	11	1260	c.1177C>G	c.(1177-1179)Cta>Gta	p.L393V	ZNF512_ENST00000379717.1_Missense_Mutation_p.L392V|ZNF512_ENST00000416005.2_Missense_Mutation_p.L364V|ZNF512_ENST00000556601.1_Missense_Mutation_p.L262V|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Missense_Mutation_p.L316V	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CCAGGAAGTACTACATAAATG	0.358													3	62	---	---	---	---	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873410	37873410	+	Missense_Mutation	SNP	G	G	C			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr2:37873410G>C	ENST00000295324.3	-	2	1321	c.321C>G	c.(319-321)atC>atG	p.I107M	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	107					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TCGGGAGGGAGATGGCATTTT	0.547													6	53	---	---	---	---	0	0
TSGA10	80705	broad.mit.edu	37	2	99681428	99681428	+	Missense_Mutation	SNP	C	C	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr2:99681428C>A	ENST00000393483.3	-	16	2222	c.1378G>T	c.(1378-1380)Gat>Tat	p.D460Y	TSGA10_ENST00000539964.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000355053.4_Missense_Mutation_p.D460Y	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	460					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTGAGGGAATCTACTTTTTCT	0.373													7	52	---	---	---	---	0	0
XRN1	54464	broad.mit.edu	37	3	142151666	142151666	+	Missense_Mutation	SNP	C	C	T			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr3:142151666C>T	ENST00000264951.4	-	2	262	c.145G>A	c.(145-147)Gat>Aat	p.D49N	XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.D49N|XRN1_ENST00000463916.1_Missense_Mutation_p.D49N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	49					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGAACATCATCATCATTAGGA	0.333													5	58	---	---	---	---	0	0
CCDC110	256309	broad.mit.edu	37	4	186392098	186392098	+	Splice_Site	SNP	C	C	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr4:186392098C>G	ENST00000307588.3	-	2	191		c.e2+1		CCDC110_ENST00000393540.3_Splice_Site|CCDC110_ENST00000507501.1_Splice_Site|CCDC110_ENST00000510617.1_Splice_Site	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110							nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GGCGATTTTACCTGTGTCACT	0.552													35	123	---	---	---	---	0	0
RREB1	6239	broad.mit.edu	37	6	7240690	7240690	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr6:7240690T>A	ENST00000379938.2	+	11	4365	c.3828T>A	c.(3826-3828)tgT>tgA	p.C1276*	RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Nonsense_Mutation_p.C1276*|RREB1_ENST00000349384.6_Intron	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1272					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTTCCCTTGTCAAAAATGCG	0.413													16	77	---	---	---	---	0	0
COL12A1	1303	broad.mit.edu	37	6	75884866	75884866	+	Silent	SNP	G	G	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr6:75884866G>A	ENST00000322507.8	-	13	2907	c.2598C>T	c.(2596-2598)acC>acT	p.T866T	COL12A1_ENST00000483888.2_Silent_p.T866T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.T866T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	866	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCACCGTATTGGTTGTATCTC	0.527													18	118	---	---	---	---	0	0
CHRM2	1129	broad.mit.edu	37	7	136700393	136700393	+	Missense_Mutation	SNP	C	C	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr7:136700393C>G	ENST00000445907.2	+	3	1309	c.781C>G	c.(781-783)Cag>Gag	p.Q261E	hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.Q261E|CHRM2_ENST00000320658.5_Missense_Mutation_p.Q261E|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.Q261E|CHRM2_ENST00000397608.3_Missense_Mutation_p.Q261E|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.Q261E|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	261					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CAACAAAATCCAGAATGGCAA	0.517													3	20	---	---	---	---	0	0
TNNI2	7136	broad.mit.edu	37	11	1860932	1860932	+	Silent	SNP	A	A	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr11:1860932A>G	ENST00000381906.1	+	2	75	c.6A>G	c.(4-6)ggA>ggG	p.G2G	TNNI2_ENST00000252898.7_Silent_p.G2G|TNNI2_ENST00000381911.1_Silent_p.G2G	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	2	Involved in binding TNC.				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCAGGATGGGAGAGTAAGTGG	0.632													3	21	---	---	---	---	0	0
CD63	0	broad.mit.edu	37	12	56120995	56120995	+	Silent	SNP	G	G	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr12:56120995G>A	ENST00000549117.1	-	3	631	c.195C>T	c.(193-195)ttC>ttT	p.F65F	CD63_ENST00000552754.1_Silent_p.F42F|CD63_ENST00000420846.3_Silent_p.F65F|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000552692.1_Silent_p.F65F|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000257857.4_Silent_p.F65F	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	65					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AAGCCACCAGGAAGAGGAAGA	0.592													7	43	---	---	---	---	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672530	77672530	+	Missense_Mutation	SNP	G	G	C			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr13:77672530G>C	ENST00000407578.2	-	56	9025	c.8759C>G	c.(8758-8760)tCt>tGt	p.S2920C	MYCBP2_ENST00000360084.5_Missense_Mutation_p.S405C|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2882C|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2882C|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2882					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACATGGGGAGAGGGAGCTCT	0.473													9	74	---	---	---	---	0	0
CIRH1A	84916	broad.mit.edu	37	16	69194305	69194305	+	Silent	SNP	T	T	C			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr16:69194305T>C	ENST00000563094.1	+	13	1525	c.1491T>C	c.(1489-1491)aaT>aaC	p.N497N	CIRH1A_ENST00000314423.7_Silent_p.N497N|CIRH1A_ENST00000352319.4_Silent_p.N382N			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	497						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CAGATGGGAATTGGCTAGCTG	0.473													12	77	---	---	---	---	0	0
NME1	4830	broad.mit.edu	37	17	49239114	49239114	+	Missense_Mutation	SNP	G	G	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr17:49239114G>A	ENST00000336097.3	+	6	678	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	NME1-NME2_ENST00000393198.3_Intron|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.V148M|NME1_ENST00000393196.3_Missense_Mutation_p.V123M|NME1_ENST00000511355.1_3'UTR|NME2_ENST00000376392.6_Intron|NME2_ENST00000555572.1_Intron	NM_198175.1	NP_937818.1			NME/NM23 nucleoside diphosphate kinase 1											endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CAGTGATTCTGTGGAGAGTGC	0.478													9	26	---	---	---	---	0	0
FBN3	84467	broad.mit.edu	37	19	8156424	8156424	+	Missense_Mutation	SNP	T	T	C			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr19:8156424T>C	ENST00000600128.1	-	48	6370	c.5956A>G	c.(5956-5958)Acc>Gcc	p.T1986A	FBN3_ENST00000270509.2_Missense_Mutation_p.T1986A|FBN3_ENST00000601739.1_Missense_Mutation_p.T1986A			Q75N90	FBN3_HUMAN	fibrillin 3	1986	EGF-like 32; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGCTGTTGGTACAGGTGCCA	0.587													3	39	---	---	---	---	0	0
GZF1	64412	broad.mit.edu	37	20	23347711	23347711	+	Missense_Mutation	SNP	T	T	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr20:23347711T>A	ENST00000338121.5	+	3	1513	c.1436T>A	c.(1435-1437)aTt>aAt	p.I479N	GZF1_ENST00000461789.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.I479N|GZF1_ENST00000544236.1_Missense_Mutation_p.I3N|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	479					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CACATGCTGATTTATCATAAA	0.353													4	33	---	---	---	---	0	0
RBM12	10137	broad.mit.edu	37	20	34242229	34242229	+	Missense_Mutation	SNP	A	A	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr20:34242229A>G	ENST00000374114.3	-	3	1279	c.1016T>C	c.(1015-1017)gTa>gCa	p.V339A	RBM12_ENST00000359646.1_Missense_Mutation_p.V339A|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.V339A|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	339	RRM 1.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATTTCGACCTACATGATCTTT	0.403													4	83	---	---	---	---	0	0
TTI1	9675	broad.mit.edu	37	20	36640365	36640365	+	Silent	SNP	G	G	A			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr20:36640365G>A	ENST00000373448.2	-	3	2092	c.1854C>T	c.(1852-1854)tgC>tgT	p.C618C	TTI1_ENST00000373447.3_Silent_p.C618C|TTI1_ENST00000449821.1_Silent_p.C618C|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	618							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGTTCATGGAGCAAATAGTGG	0.458													4	96	---	---	---	---	0	0
SPANXD	64648	broad.mit.edu	37	X	140785702	140785702	+	Missense_Mutation	SNP	C	C	T			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chrX:140785702C>T	ENST00000370515.3	-	2	547	c.214G>A	c.(214-216)Gcc>Acc	p.A72T		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTCTTTCGGGCGTGGTCATTC	0.433													5	160	---	---	---	---	0	0
PHACTR4	65979	broad.mit.edu	37	1	28764899	28764899	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:28764899G>T	ENST00000373836.3	+	1	218	c.4G>T	c.(4-6)Gga>Tga	p.G2*	PHACTR4_ENST00000493669.1_Intron|PHACTR4_ENST00000373839.3_Intron	NM_023923.3	NP_076412.3	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	0							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TATAATCATGGGACAAGCTGA	0.413													8	27	---	---	---	---	0	0
BTBD8	284697	broad.mit.edu	37	1	92595245	92595245	+	Splice_Site	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:92595245G>A	ENST00000370382.3	+	5	931	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	BTBD8_ENST00000342818.3_Splice_Site_p.A222T|BTBD8_ENST00000540648.1_Splice_Site_p.A222T			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	222	BTB 2.					nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TCCCTTTAGGGCCATTTTGAG	0.358													3	30	---	---	---	---	0	0
FLG2	388698	broad.mit.edu	37	1	152324525	152324525	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:152324525A>C	ENST00000388718.5	-	3	5809	c.5737T>G	c.(5737-5739)Tcc>Gcc	p.S1913A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1913							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACTGTGGATTCTGACTCT	0.512													4	249	---	---	---	---	0	0
CHMP3	51652	broad.mit.edu	37	2	86790451	86790451	+	Silent	SNP	G	G	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr2:86790451G>C	ENST00000263856.4	-	1	149	c.21C>G	c.(19-21)acC>acG	p.T7T	CHMP3_ENST00000439940.2_Intron|CHMP3_ENST00000409727.1_Silent_p.T7T|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000409225.2_5'UTR|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1			charged multivesicular body protein 3																		GCTTCTCCTGGGTCTTTCCAA	0.622													5	128	---	---	---	---	0	0
SLC6A6	6533	broad.mit.edu	37	3	14489110	14489110	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr3:14489110G>A	ENST00000454876.2	+	5	714	c.385G>A	c.(385-387)Gta>Ata	p.V129I	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Missense_Mutation_p.V129I|SLC6A6_ENST00000416216.2_Missense_Mutation_p.V129I			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	129					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TGCCTCCGTTGTAATTGTGTC	0.547													11	431	---	---	---	---	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361505	70361505	+	Silent	SNP	C	C	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr4:70361505C>T	ENST00000305107.6	-	1	121	c.75G>A	c.(73-75)aaG>aaA	p.K25K	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Silent_p.K25K	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	25					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACACCAGCACCTTTCCACAAC	0.453													7	231	---	---	---	---	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948496	82948496	+	Missense_Mutation	SNP	T	T	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr5:82948496T>A	ENST00000274341.4	-	3	1098	c.248A>T	c.(247-249)aAg>aTg	p.K83M	HAPLN1_ENST00000514416.1_Missense_Mutation_p.K83M	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	83	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CGAAGTTAGCTTGGTCCACTT	0.423													4	95	---	---	---	---	0	0
FCN1	2219	broad.mit.edu	37	9	137802991	137802991	+	Missense_Mutation	SNP	C	C	T	rs149439264	byFrequency	TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr9:137802991C>T	ENST00000371806.3	-	8	812	c.721G>A	c.(721-723)Ggg>Agg	p.G241R		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	241	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.G241R(2)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCACTGCCCCCGACAAAGGCT	0.582													42	136	---	---	---	---	0	0
GBF1	8729	broad.mit.edu	37	10	104140091	104140091	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr10:104140091A>G	ENST00000369983.3	+	37	5221	c.4961A>G	c.(4960-4962)tAc>tGc	p.Y1654C		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1654					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGGACAAGTACATGCACGCA	0.577													20	63	---	---	---	---	0	0
C10orf137	26098	broad.mit.edu	37	10	127429204	127429204	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr10:127429204A>C	ENST00000337623.3	+	15	2157	c.2052A>C	c.(2050-2052)ttA>ttC	p.L684F	C10orf137_ENST00000356792.4_Missense_Mutation_p.L718F	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACATTAAATTAGCTTTGCAAA	0.393													30	93	---	---	---	---	0	0
ACAD10	80724	broad.mit.edu	37	12	112186219	112186219	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr12:112186219G>T	ENST00000455480.2	+	18	2854	c.2677G>T	c.(2677-2679)Gat>Tat	p.D893Y	ACAD10_ENST00000392636.2_Missense_Mutation_p.D464Y|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.D862Y	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	862							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGTTCCCATGGATACCCCAGG	0.562													17	51	---	---	---	---	0	0
AKAP6	9472	broad.mit.edu	37	14	33292870	33292870	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr14:33292870G>A	ENST00000280979.4	+	13	6021	c.5851G>A	c.(5851-5853)Gaa>Aaa	p.E1951K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1951					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGCTGGCAAGGAATTTGTTTC	0.378													15	73	---	---	---	---	0	0
PAPLN	89932	broad.mit.edu	37	14	73719406	73719406	+	Silent	SNP	C	C	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr14:73719406C>T	ENST00000427855.1	+	11	1119	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	PAPLN_ENST00000554301.1_Silent_p.P339P|PAPLN_ENST00000381166.3_Silent_p.P339P|PAPLN_ENST00000340738.5_Silent_p.P312P|PAPLN_ENST00000555445.1_Silent_p.P339P			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	339	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGCCTACCCCGACCACATGT	0.647													12	50	---	---	---	---	0	0
IGDCC3	9543	broad.mit.edu	37	15	65627682	65627682	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr15:65627682G>A	ENST00000327987.4	-	4	883	c.632C>T	c.(631-633)gCc>gTc	p.A211V		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	211	Ig-like C2-type 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGTTTGAGGCCACACAGTG	0.597													8	49	---	---	---	---	0	0
STRA6	64220	broad.mit.edu	37	15	74472523	74472523	+	Silent	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr15:74472523G>A	ENST00000323940.5	-	19	2147	c.1902C>T	c.(1900-1902)cgC>cgT	p.R634R	STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Silent_p.R649R|STRA6_ENST00000423167.2_Silent_p.R625R|STRA6_ENST00000563965.1_Silent_p.R673R|STRA6_ENST00000395105.4_Silent_p.R634R|STRA6_ENST00000535552.1_Silent_p.R671R|STRA6_ENST00000416286.3_Silent_p.R626R|STRA6_ENST00000449139.2_Silent_p.R634R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	634					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GAGCCCTGCCGCGGCTGGCCC	0.632													24	100	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			10	136	---	---	---	---	0	0
NFKBIB	4793	broad.mit.edu	37	19	39395664	39395664	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr19:39395664C>G	ENST00000572515.1	+	2	270	c.189C>G	c.(187-189)caC>caG	p.H63Q	NFKBIB_ENST00000392079.3_Intron|NFKBIB_ENST00000313582.5_Missense_Mutation_p.H63Q			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	63					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCACTGCACTTGGCTGTGA	0.532													4	212	---	---	---	---	0	0
SUN2	25777	broad.mit.edu	37	22	39141779	39141779	+	Silent	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr22:39141779G>A	ENST00000405510.1	-	9	1081	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SUN2_ENST00000216064.4_Silent_p.F241F|SUN2_ENST00000405018.1_Silent_p.F262F|SUN2_ENST00000406622.1_Silent_p.F241F|SUN2_ENST00000411587.2_Silent_p.F230F|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	241					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						AAGCAGGGTGGAATGTCTGCA	0.612													4	11	---	---	---	---	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090586	91090586	+	Missense_Mutation	SNP	A	A	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chrX:91090586A>T	ENST00000373094.1	+	1	928	c.83A>T	c.(82-84)tAc>tTc	p.Y28F	PCDH11X_ENST00000298274.8_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Y28F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	28	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAGAAAAACTACACCATCCGA	0.488													15	21	---	---	---	---	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869898	151869898	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chrX:151869898G>T	ENST00000329342.5	+	3	813	c.588G>T	c.(586-588)atG>atT	p.M196I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	196	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAGATCATGCCCAAGACAG	0.557													43	46	---	---	---	---	0	0
CROCC	9696	broad.mit.edu	37	1	17266574	17266574	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:17266574C>A	ENST00000375541.5	+	13	1863	c.1794C>A	c.(1792-1794)aaC>aaA	p.N598K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	598					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAGCGCCAACGAGCTCCTGA	0.647													3	10	---	---	---	---	0	0
IGKV2D-29	0	broad.mit.edu	37	2	89987009	89987009	+	RNA	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:89987009C>A	ENST00000491977.1	+	0	320																											ACAGATTTCACACTGAAAATC	0.517													4	104	---	---	---	---	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459775	107459775	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:107459775C>T	ENST00000409382.3	-	2	1269	c.659G>A	c.(658-660)cGc>cAc	p.R220H	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R220H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R220H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	220					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTCTGCAGGCGCGGGTTCAG	0.647													6	12	---	---	---	---	0	0
SLC25A12	8604	broad.mit.edu	37	2	172666119	172666119	+	Silent	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:172666119G>A	ENST00000422440.2	-	13	1339	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	SLC25A12_ENST00000392592.4_Silent_p.G327G	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	434					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TACTTACACAGCCTCCAGCAA	0.388													6	126	---	---	---	---	0	0
IL17RB	55540	broad.mit.edu	37	3	53892809	53892809	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:53892809T>G	ENST00000288167.3	+	9	820	c.811T>G	c.(811-813)Tgc>Ggc	p.C271G		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	271					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AGTTGTGCTCTGCCCACAAAC	0.493													4	55	---	---	---	---	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085458	64085458	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:64085458C>T	ENST00000295902.6	-	8	2389	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A658T|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	602						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACTGACTCTGCGCTCCGGAAC	0.552													8	106	---	---	---	---	0	0
NME9	347736	broad.mit.edu	37	3	138024911	138024911	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:138024911T>G	ENST00000383180.2	-	9	625	c.388A>C	c.(388-390)Aca>Cca	p.T130P	NME9_ENST00000536478.1_Missense_Mutation_p.T130P|NME9_ENST00000317876.4_Missense_Mutation_p.T130P|NME9_ENST00000341790.5_Missense_Mutation_p.T128P|NME9_ENST00000333911.3_Missense_Mutation_p.T191P|NME9_ENST00000484930.1_Missense_Mutation_p.T128P	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	191					cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TCTTCATTTGTTAGAATTTCA	0.363													4	69	---	---	---	---	0	0
KIAA0922	23240	broad.mit.edu	37	4	154510059	154510059	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr4:154510059G>A	ENST00000409663.3	+	16	1619	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	KIAA0922_ENST00000409959.3_Missense_Mutation_p.G524R|KIAA0922_ENST00000440693.1_Missense_Mutation_p.G524R	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	523						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TAATTGGAATGGGAGCCTTTC	0.313													5	82	---	---	---	---	0	0
HMGCS1	3157	broad.mit.edu	37	5	43293008	43293008	+	Silent	SNP	A	A	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:43293008A>T	ENST00000325110.6	-	9	1457	c.1251T>A	c.(1249-1251)ggT>ggA	p.G417G	HMGCS1_ENST00000433297.2_Silent_p.G417G	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	417					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CTGGTGCCACACCAGTTCTTG	0.353													13	142	---	---	---	---	0	0
EMB	133418	broad.mit.edu	37	5	49706712	49706712	+	Splice_Site	SNP	T	T	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:49706712T>A	ENST00000303221.5	-	4	686	c.471A>T	c.(469-471)aaA>aaT	p.K157N	EMB_ENST00000514111.1_Splice_Site_p.K107N|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Splice_Site_p.K103N	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	157	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AATACTGACCTTTGAAATTAA	0.274													3	27	---	---	---	---	0	0
F2R	2149	broad.mit.edu	37	5	76028690	76028690	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:76028690C>T	ENST00000319211.4	+	2	905	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	214					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CCTCTCCTGGCGTACTCTGGG	0.537													6	139	---	---	---	---	0	0
FBN2	2201	broad.mit.edu	37	5	127653927	127653927	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:127653927T>C	ENST00000508053.1	-	42	5605	c.4631A>G	c.(4630-4632)aAt>aGt	p.N1544S	FBN2_ENST00000262464.4_Missense_Mutation_p.N1544S			P35556	FBN2_HUMAN	fibrillin 2	1544	EGF-like 26; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACATAGGCCATTGACACAGTT	0.433													11	189	---	---	---	---	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130799890	130799890	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:130799890T>C	ENST00000509018.1	-	18	2529	c.2324A>G	c.(2323-2325)gAa>gGa	p.E775G	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775G|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E825G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	775	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAACTACTTCTTTAGCTGT	0.373													15	43	---	---	---	---	0	0
NOTCH4	4855	broad.mit.edu	37	6	32180342	32180342	+	Silent	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:32180342C>A	ENST00000375023.3	-	17	2727	c.2589G>T	c.(2587-2589)ggG>ggT	p.G863G	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	863	EGF-like 22.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAAGGAGGGCCCAGTCTGGA	0.607													7	67	---	---	---	---	0	0
CUL9	23113	broad.mit.edu	37	6	43182853	43182853	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:43182853G>C	ENST00000252050.4	+	30	5809	c.5725G>C	c.(5725-5727)Gga>Cga	p.G1909R	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.G1881R|CUL9_ENST00000354495.3_Missense_Mutation_p.G1799R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1909					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AAATCCTCCTGGAACCCTGGG	0.567													31	57	---	---	---	---	0	0
SLC26A4	5172	broad.mit.edu	37	7	107340565	107340565	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr7:107340565C>A	ENST00000265715.3	+	15	1876	c.1652C>A	c.(1651-1653)tCc>tAc	p.S551Y	SLC26A4_ENST00000541474.1_Missense_Mutation_p.S112Y|SLC26A4_ENST00000543100.1_Missense_Mutation_p.S120Y|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Missense_Mutation_p.S138Y	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	551	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTAGATTTTCCAGTCCTATT	0.308									Pendred syndrome				5	60	---	---	---	---	0	0
SULF1	23213	broad.mit.edu	37	8	70515888	70515888	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr8:70515888G>C	ENST00000260128.4	+	12	1961	c.1244G>C	c.(1243-1245)aGa>aCa	p.R415T	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.R415T|SULF1_ENST00000419716.3_Missense_Mutation_p.R415T|SULF1_ENST00000458141.2_Missense_Mutation_p.R415T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	415					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTAGTGGAAAGAGGGTAATTA	0.398													3	46	---	---	---	---	0	0
DKK1	22943	broad.mit.edu	37	10	54076405	54076405	+	Silent	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr10:54076405C>A	ENST00000373970.3	+	4	778	c.639C>A	c.(637-639)gtC>gtA	p.V213V		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	213	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GTAAACCTGTCCTGAAAGAAG	0.473													4	89	---	---	---	---	0	0
OR5T1	390155	broad.mit.edu	37	11	56043659	56043659	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:56043659G>A	ENST00000313033.2	+	1	631	c.545G>A	c.(544-546)gGa>gAa	p.G182E		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCCTTCTGTGGATCCAATGAA	0.413													38	220	---	---	---	---	0	0
ZNF202	7753	broad.mit.edu	37	11	123597404	123597404	+	Silent	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:123597404C>A	ENST00000336139.4	-	8	1610	c.1248G>T	c.(1246-1248)ctG>ctT	p.L416L	ZNF202_ENST00000529691.1_Silent_p.L416L|ZNF202_ENST00000530393.1_Silent_p.L416L			O95125	ZN202_HUMAN	zinc finger protein 202	416					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGTGAGTCCTCAGGTGTCTAA	0.473													12	104	---	---	---	---	0	0
RILPL2	196383	broad.mit.edu	37	12	123915096	123915096	+	Silent	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:123915096C>T	ENST00000280571.8	-	2	746	c.450G>A	c.(448-450)tcG>tcA	p.S150S		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	150	RILP-like.					cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CCAGGAGCTGCGACTTGAGTT	0.582													4	99	---	---	---	---	0	0
ZNF664	144348	broad.mit.edu	37	12	124496834	124496834	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:124496834T>G	ENST00000539644.1	+	6	1973	c.143T>G	c.(142-144)aTt>aGt	p.I48S	ZNF664_ENST00000538932.2_Missense_Mutation_p.I48S|ZNF664_ENST00000337815.4_Missense_Mutation_p.I48S|ZNF664_ENST00000392404.3_Missense_Mutation_p.I48S|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GAACTTCATATTCATTGGAGA	0.353													13	86	---	---	---	---	0	0
CEBPE	1053	broad.mit.edu	37	14	23586839	23586839	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr14:23586839T>C	ENST00000206513.5	-	2	1227	c.703A>G	c.(703-705)Aag>Gag	p.K235E		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	235						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCCAGCACCTTCTGCTGCGTC	0.622													7	53	---	---	---	---	0	0
IFT140	9742	broad.mit.edu	37	16	1570707	1570707	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr16:1570707C>G	ENST00000426508.2	-	27	3919	c.3556G>C	c.(3556-3558)Gag>Cag	p.E1186Q	IFT140_ENST00000361339.5_Missense_Mutation_p.E380Q	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1186										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CGCCGCGACTCCTCAGGCAGG	0.627													7	12	---	---	---	---	0	0
DNAH3	55567	broad.mit.edu	37	16	21139017	21139017	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr16:21139017A>C	ENST00000261383.3	-	8	1198	c.1199T>G	c.(1198-1200)cTt>cGt	p.L400R	DNAH3_ENST00000415178.1_Missense_Mutation_p.L400R|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	400	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGTTGAGAAGAGTCTGGTG	0.493													4	97	---	---	---	---	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380700	28380700	+	Silent	SNP	A	A	G	rs34709422		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:28380700A>G	ENST00000394835.3	+	10	1920	c.1728A>G	c.(1726-1728)caA>caG	p.Q576Q	EFCAB5_ENST00000394832.2_Silent_p.Q576Q|EFCAB5_ENST00000320856.5_Silent_p.Q576Q|EFCAB5_ENST00000541045.1_Silent_p.Q233Q|EFCAB5_ENST00000378738.3_Silent_p.Q576Q|EFCAB5_ENST00000536908.2_Silent_p.Q520Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	576							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTACAGAACAAGGACAGCACA	0.453													5	101	---	---	---	---	0	0
CYGB	114757	broad.mit.edu	37	17	74527562	74527562	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:74527562C>T	ENST00000293230.5	-	2	717	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	CYGB_ENST00000590175.1_Missense_Mutation_p.V54M|CYGB_ENST00000589342.1_Missense_Mutation_p.V119M|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589145.1_Missense_Mutation_p.V54M	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	119	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						ACCGGTTCCACCTTGTGCTTG	0.642													16	38	---	---	---	---	0	0
WDR7	23335	broad.mit.edu	37	18	54398817	54398817	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr18:54398817G>A	ENST00000254442.3	+	14	2189	c.1978G>A	c.(1978-1980)Gca>Aca	p.A660T	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A660T	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	660										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGCTTCTGAGGCATCTGACAA	0.393													4	67	---	---	---	---	0	0
MIEF1	54471	broad.mit.edu	37	22	39908032	39908032	+	Splice_Site	SNP	G	G	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr22:39908032G>C	ENST00000325301.2	+	4	746		c.e4+1		MIEF1_ENST00000404569.1_Splice_Site|MIEF1_ENST00000402881.1_Splice_Site	NM_019008.4	NP_061881.2			mitochondrial elongation factor 1									p.?(1)									TTCGACACAGGTGAGAAGGGC	0.597													5	46	---	---	---	---	0	0
TAF13	6884	broad.mit.edu	37	1	109608797	109608797	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:109608797T>C	ENST00000338366.5	-	3	218	c.164A>G	c.(163-165)gAt>gGt	p.D55G		NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN	TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa	55					transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTCAAGAATATCCACTGACTC	0.318													8	102	---	---	---	---	0	0
SUCO	51430	broad.mit.edu	37	1	172555033	172555033	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:172555033G>A	ENST00000367723.4	+	16	2180	c.2056G>A	c.(2056-2058)Gct>Act	p.A686T	SUCO_ENST00000263688.3_Missense_Mutation_p.A535T|SUCO_ENST00000610051.1_Missense_Mutation_p.A498T|SUCO_ENST00000608151.1_Missense_Mutation_p.A687T	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		CACTGCCACAGCTGCACCTAA	0.333													5	127	---	---	---	---	0	0
IGKV1-5	0	broad.mit.edu	37	2	89247114	89247114	+	RNA	SNP	C	C	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr2:89247114C>A	ENST00000496168.1	-	0	236																											ACATTTGGCACCTGAGATTGG	0.453													9	138	---	---	---	---	0	0
DOCK2	1794	broad.mit.edu	37	5	169504824	169504824	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr5:169504824C>A	ENST00000256935.8	+	48	5057	c.4977C>A	c.(4975-4977)agC>agA	p.S1659R	DOCK2_ENST00000520908.1_Missense_Mutation_p.S1151R|DOCK2_ENST00000540750.1_Missense_Mutation_p.S720R|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1659					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACCCCCAGCAAGCCTACCT	0.602													3	29	---	---	---	---	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599066	136599066	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr6:136599066C>T	ENST00000531224.1	-	4	1205	c.953G>A	c.(952-954)cGt>cAt	p.R318H	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R316H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R316H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R316H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	318					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAACGAGGAACGGCCCCTAGA	0.408													4	159	---	---	---	---	0	0
TNS3	64759	broad.mit.edu	37	7	47408548	47408548	+	Silent	SNP	G	G	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr7:47408548G>A	ENST00000398879.1	-	17	2061	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P	TNS3_ENST00000311160.9_Silent_p.P565P|TNS3_ENST00000355730.3_Silent_p.P325P			Q68CZ2	TENS3_HUMAN	tensin 3	565						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTCTCAGCAGGGGCTGGGGCT	0.647													5	75	---	---	---	---	0	0
HSPB1	3315	broad.mit.edu	37	7	75933153	75933153	+	Silent	SNP	C	C	T	rs140791936	by1000genomes	TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr7:75933153C>T	ENST00000248553.6	+	2	568	c.399C>T	c.(397-399)taC>taT	p.Y133Y	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	133	Interaction with TGFB1I1 (By similarity).				anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding			large_intestine(1)|lung(3)	4						AGCATGGCTACATCTCCCGGT	0.667													4	71	---	---	---	---	0	0
CYP7A1	1581	broad.mit.edu	37	8	59412637	59412637	+	Silent	SNP	A	A	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr8:59412637A>T	ENST00000301645.3	-	1	158	c.21T>A	c.(19-21)atT>atA	p.I7I		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	7					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CAATCCCCCAAATCAAAGATG	0.378									Neonatal Giant Cell Hepatitis				7	104	---	---	---	---	0	0
CHD7	55636	broad.mit.edu	37	8	61655594	61655594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr8:61655594C>T	ENST00000423902.2	+	2	2082	c.1603C>T	c.(1603-1605)Cag>Tag	p.Q535*	CHD7_ENST00000525508.1_Nonsense_Mutation_p.Q535*|CHD7_ENST00000524602.1_Nonsense_Mutation_p.Q535*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	535	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCTCATCACCAGCCTTGGGC	0.587													6	24	---	---	---	---	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968462	99968462	+	Silent	SNP	A	A	G			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr10:99968462A>G	ENST00000298999.3	+	5	894	c.591A>G	c.(589-591)gcA>gcG	p.A197A	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Silent_p.A197A	NM_014472.4	NP_055287			R3H domain and coiled-coil containing 1-like																		ATGGGGAAGCATTTGAAGACA	0.408													8	81	---	---	---	---	0	0
GTF2H3	2967	broad.mit.edu	37	12	124118414	124118414	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr12:124118414C>T	ENST00000543341.2	+	1	39	c.8C>T	c.(7-9)tCa>tTa	p.S3L	GTF2H3_ENST00000228955.7_5'UTR	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	3					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GCCATGGTTTCAGACGGTGAG	0.637								Nucleotide excision repair (NER)					8	90	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr17:7578413C>T	ENST00000420246.2	-	5	649	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCCTCACAACCTCCGTC	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	84	---	---	---	---	0	0
WNK4	65266	broad.mit.edu	37	17	40937388	40937388	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr17:40937388T>C	ENST00000246914.5	+	6	1385	c.1364T>C	c.(1363-1365)cTc>cCc	p.L455P	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	455					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGCCTCAAGCTCTGGCTGCGC	0.711													5	11	---	---	---	---	0	0
MCAT	27349	broad.mit.edu	37	22	43529100	43529100	+	Silent	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr22:43529100C>T	ENST00000290429.6	-	4	1167	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)						fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GGGTCTGCAGCACATCCACGG	0.612													14	199	---	---	---	---	0	0
CHCHD6	84303	broad.mit.edu	37	3	126445989	126445989	+	Silent	SNP	C	C	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr3:126445989C>A	ENST00000508789.1	+	2	228	c.156C>A	c.(154-156)acC>acA	p.T52T	CHCHD6_ENST00000290913.3_Silent_p.T52T			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	52										endometrium(2)|large_intestine(3)|lung(3)	8						CATCTTCTACCTTTGGCCTTC	0.512													4	129	---	---	---	---	0	0
HIST1H2AD	3013	broad.mit.edu	37	6	26199153	26199153	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:26199153C>A	ENST00000341023.1	-	1	318	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	107					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				GGCAGAACACCGCCCTGAGCA	0.522													4	137	---	---	---	---	0	0
ARID1B	57492	broad.mit.edu	37	6	157502129	157502129	+	Silent	SNP	G	G	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:157502129G>A	ENST00000346085.5	+	12	3163	c.3162G>A	c.(3160-3162)ggG>ggA	p.G1054G	ARID1B_ENST00000367148.1_Silent_p.G1094G|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Silent_p.G1036G|ARID1B_ENST00000350026.5_Silent_p.G1041G	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1041	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCACTACTGGGGAGAAGATCA	0.552													3	46	---	---	---	---	0	0
MKRN1	23608	broad.mit.edu	37	7	140158931	140158931	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr7:140158931T>C	ENST00000255977.2	-	4	871	c.647A>G	c.(646-648)tAt>tGt	p.Y216C	MKRN1_ENST00000443720.2_Missense_Mutation_p.Y216C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Missense_Mutation_p.Y152C|MKRN1_ENST00000480552.1_Intron	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	216							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CACTGCAGCATAGGGGCACAG	0.562													4	146	---	---	---	---	0	0
CTSL	1514	broad.mit.edu	37	9	90343270	90343270	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr9:90343270G>T	ENST00000343150.5	+	4	1245	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	CTSL_ENST00000342020.5_Missense_Mutation_p.D119Y|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.D119Y					cathepsin L																		CAGATCTGTGGATTGGAGAGA	0.493													6	69	---	---	---	---	0	0
SYT10	341359	broad.mit.edu	37	12	33529773	33529773	+	Missense_Mutation	SNP	T	T	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr12:33529773T>A	ENST00000228567.3	-	7	1860	c.1564A>T	c.(1564-1566)Aca>Tca	p.T522S	SYT10_ENST00000535526.1_Missense_Mutation_p.T341S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	522						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CATTATGGTGTGGAAGGTGGT	0.408													3	40	---	---	---	---	0	0
AHDC1	27245	broad.mit.edu	37	1	27874315	27874315	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:27874315C>G	ENST00000374011.2	-	6	5280	c.4312G>C	c.(4312-4314)Gct>Cct	p.A1438P	AHDC1_ENST00000247087.5_Missense_Mutation_p.A1438P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1438							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGGCTGCAGCTGCGTGGCCC	0.682													3	19	---	---	---	---	0	0
SCMH1	22955	broad.mit.edu	37	1	41512096	41512096	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:41512096T>C	ENST00000402904.2	-	12	1819	c.1451A>G	c.(1450-1452)cAc>cGc	p.H484R	SCMH1_ENST00000397174.2_Missense_Mutation_p.H464R|SCMH1_ENST00000372597.1_Missense_Mutation_p.H437R|SCMH1_ENST00000326197.7_Missense_Mutation_p.H484R|SCMH1_ENST00000372596.1_Missense_Mutation_p.H423R|SCMH1_ENST00000456518.2_Missense_Mutation_p.H326R|SCMH1_ENST00000361191.5_Missense_Mutation_p.H423R|SCMH1_ENST00000397171.2_Missense_Mutation_p.H423R|SCMH1_ENST00000337495.5_Missense_Mutation_p.H494R|SCMH1_ENST00000372595.1_Missense_Mutation_p.H423R|SCMH1_ENST00000361705.3_Missense_Mutation_p.H437R	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	484					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GTACCTGTCGTGGCTGTGGCT	0.582													15	22	---	---	---	---	0	0
METTL18	92342	broad.mit.edu	37	1	169762232	169762232	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:169762232C>G	ENST00000310392.4	-	2	958	c.605G>C	c.(604-606)gGt>gCt	p.G202A	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.G202A	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	202						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						TGCAGTTATACCTAGTAAACC	0.393													47	59	---	---	---	---	0	0
SLC9C2	284525	broad.mit.edu	37	1	173556924	173556924	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:173556924T>A	ENST00000367714.3	-	5	825	c.403A>T	c.(403-405)Att>Ttt	p.I135F	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I33F|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	135					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ACATATCCAATTATGATGCTT	0.348													8	115	---	---	---	---	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564355	176564355	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:176564355A>T	ENST00000367662.3	+	3	2779	c.1615A>T	c.(1615-1617)Aac>Tac	p.N539Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.N539Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	539	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAGGGCCTAAACCCCATTGT	0.542													14	19	---	---	---	---	0	0
OBSCN	84033	broad.mit.edu	37	1	228412361	228412361	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:228412361C>G	ENST00000570156.2	+	10	3205	c.3131C>G	c.(3130-3132)gCa>gGa	p.A1044G	OBSCN_ENST00000422127.1_Missense_Mutation_p.A952G|OBSCN_ENST00000284548.11_Missense_Mutation_p.A952G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1044	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGCAGCAGGCAGGCCAGGCG	0.602													20	22	---	---	---	---	0	0
TAF5L	27097	broad.mit.edu	37	1	229738306	229738306	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:229738306T>C	ENST00000366675.3	-	4	696	c.608A>G	c.(607-609)aAg>aGg	p.K203R	TAF5L_ENST00000258281.2_Missense_Mutation_p.K203R|TAF5L_ENST00000366676.1_Missense_Mutation_p.K203R	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	203					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GTCTGTTCTCTTGGCAGGCTG	0.527													23	33	---	---	---	---	0	0
ERLEC1	27248	broad.mit.edu	37	2	54028677	54028677	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:54028677T>G	ENST00000185150.4	+	7	800	c.669T>G	c.(667-669)atT>atG	p.I223M	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.I223M|ERLEC1_ENST00000405123.3_Missense_Mutation_p.I223M|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	223					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						AGCATGAAATTCTTTCAGTAG	0.383													25	30	---	---	---	---	0	0
AFF3	3899	broad.mit.edu	37	2	100623893	100623893	+	Silent	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:100623893C>G	ENST00000409236.2	-	4	316	c.204G>C	c.(202-204)cgG>cgC	p.R68R	AFF3_ENST00000356421.2_Silent_p.R93R|AFF3_ENST00000409579.1_Silent_p.R93R|AFF3_ENST00000317233.4_Silent_p.R68R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R93R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGTTCTGGATCCGGTTGGAGA	0.433													45	79	---	---	---	---	0	0
ACTR3	10096	broad.mit.edu	37	2	114709088	114709088	+	Silent	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:114709088A>T	ENST00000263238.2	+	9	1211	c.891A>T	c.(889-891)tcA>tcT	p.S297S	ACTR3_ENST00000535589.2_Silent_p.S246S|ACTR3_ENST00000536059.1_Silent_p.S235S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	297					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						AACCTATCTCAGAAGTTGTAG	0.303													17	20	---	---	---	---	0	0
INSIG2	51141	broad.mit.edu	37	2	118864346	118864346	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:118864346C>G	ENST00000245787.4	+	4	609	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	135					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACAGTTGTCTCTCACACTGGC	0.388													17	34	---	---	---	---	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170014	207170014	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:207170014T>A	ENST00000374423.3	+	5	1148	c.762T>A	c.(760-762)caT>caA	p.H254Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	254							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATCAGAAACATAAAGAATCAA	0.358													6	18	---	---	---	---	0	0
KANSL1L	151050	broad.mit.edu	37	2	210894539	210894539	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:210894539C>G	ENST00000281772.9	-	10	2522	c.2259G>C	c.(2257-2259)caG>caC	p.Q753H	KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q711H	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	753																	GTGATGAATTCTGGATTCTTG	0.289													31	84	---	---	---	---	0	0
STK36	27148	broad.mit.edu	37	2	219540981	219540981	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:219540981A>G	ENST00000295709.3	+	6	943	c.664A>G	c.(664-666)Acc>Gcc	p.T222A	STK36_ENST00000440309.1_Missense_Mutation_p.T222A|STK36_ENST00000392106.2_Missense_Mutation_p.T222A|STK36_ENST00000392105.3_Missense_Mutation_p.T222A	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	222	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGGCCCTCAACCATCAGTCC	0.448													20	35	---	---	---	---	0	0
COL6A3	1293	broad.mit.edu	37	2	238266526	238266526	+	Splice_Site	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:238266526C>A	ENST00000295550.4	-	22	6924		c.e22-1		COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.?(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGGTTACCCTGAAAGCAAC	0.527													92	10	---	---	---	---	0	0
VHL	7428	broad.mit.edu	37	3	10188250	10188250	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:10188250C>G	ENST00000256474.2	+	2	1233	c.393C>G	c.(391-393)aaC>aaG	p.N131K	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	131	Involved in binding to CCT complex.		N -> K (in VHLD; type I).|N -> T (in VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.N131fs*27(2)|p.N131K(2)|p.Q132fs*27(1)|p.N131fs*10(1)|p.H125fs*27(1)|p.N131*(1)|p.N131fs*7(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTCTGGTTAACCAAACTGAAT	0.453		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				15	138	---	---	---	---	0	0
NR1D2	9975	broad.mit.edu	37	3	24006646	24006646	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:24006646C>A	ENST00000312521.4	+	6	1644	c.1325C>A	c.(1324-1326)aCt>aAt	p.T442N	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	442					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AAGGCTGGGACTTTTGAGGTA	0.363													7	118	---	---	---	---	0	0
TRIM71	131405	broad.mit.edu	37	3	32932438	32932438	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:32932438A>T	ENST00000383763.5	+	4	1805	c.1742A>T	c.(1741-1743)aAg>aTg	p.K581M		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGGTGGTCAAGTCAGGCCGC	0.602													24	19	---	---	---	---	0	0
SCN11A	11280	broad.mit.edu	37	3	38936400	38936400	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:38936400T>C	ENST00000302328.3	-	15	2657	c.2459A>G	c.(2458-2460)aAt>aGt	p.N820S	SCN11A_ENST00000444237.2_Missense_Mutation_p.N820S|SCN11A_ENST00000456224.3_Missense_Mutation_p.N820S|SCN11A_ENST00000450244.1_Missense_Mutation_p.N820S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	820					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TAAGTTTCCATTTCTTTCCTC	0.448													4	46	---	---	---	---	0	0
ACKR2	1238	broad.mit.edu	37	3	42906763	42906763	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:42906763G>C	ENST00000422265.1	+	3	944	c.769G>C	c.(769-771)Gtg>Ctg	p.V257L	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.V257L|ACKR2_ENST00000442925.1_Missense_Mutation_p.V257L|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		AGCCTTGGTGGTGGCCTTCTT	0.532													47	70	---	---	---	---	0	0
CCR1	1230	broad.mit.edu	37	3	46244792	46244792	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:46244792C>G	ENST00000296140.3	-	2	1138	c.1013G>C	c.(1012-1014)aGg>aCg	p.R338T	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	338					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGAGCTGACCCTCTCCAGCCT	0.587													17	14	---	---	---	---	0	0
ITIH1	3697	broad.mit.edu	37	3	52815957	52815957	+	Splice_Site	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:52815957G>T	ENST00000273283.2	+	7	713	c.689G>T	c.(688-690)gGt>gTt	p.G230V	ITIH1_ENST00000542827.1_Splice_Site_p.G230V|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000540715.1_Splice_Site_p.G88V|ITIH1_ENST00000537050.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	230					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CGGTTCCAGGGTCATGTGCTG	0.517													4	47	---	---	---	---	0	0
OR5K2	402135	broad.mit.edu	37	3	98216556	98216556	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:98216556A>T	ENST00000427338.1	+	1	109	c.32A>T	c.(31-33)gAg>gTg	p.E11V		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ATGAAAAATGAGTTTATCCTC	0.383													39	38	---	---	---	---	0	0
C3orf56	285311	broad.mit.edu	37	3	126915864	126915864	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:126915864C>T	ENST00000398112.1	+	2	576	c.336C>T	c.(334-336)gaC>gaT	p.D112D		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCAGCTTTGACCCCCTCATAG	0.577													32	155	---	---	---	---	0	0
GPR87	0	broad.mit.edu	37	3	151012739	151012739	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:151012739C>G	ENST00000260843.4	-	3	759	c.295G>C	c.(295-297)Gtc>Ctc	p.V99L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	99						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCATCATGGACTATTCGAAAT	0.373													9	45	---	---	---	---	0	0
KPNA4	3840	broad.mit.edu	37	3	160243734	160243734	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:160243734T>C	ENST00000334256.4	-	9	1023	c.718A>G	c.(718-720)Att>Gtt	p.I240V		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	240					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACCTCCTGAATGGTTTCCATT	0.303													47	40	---	---	---	---	0	0
SLC7A14	57709	broad.mit.edu	37	3	170218900	170218900	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:170218900A>C	ENST00000231706.5	-	3	854	c.539T>G	c.(538-540)cTg>cGg	p.L180R	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGTCTCACCCAGGCCATTGAG	0.517													18	32	---	---	---	---	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604756	13604756	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:13604756C>T	ENST00000040738.5	-	10	3903	c.3768G>A	c.(3766-3768)ttG>ttA	p.L1256L		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1256							DNA binding										CTGTGTTTTTCAAATTCTTCT	0.393													14	21	---	---	---	---	0	0
ANTXR2	118429	broad.mit.edu	37	4	80954651	80954651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:80954651G>T	ENST00000403729.2	-	9	1296	c.771C>A	c.(769-771)taC>taA	p.Y257*	ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000307333.7_Nonsense_Mutation_p.Y257*|ANTXR2_ENST00000404191.1_Nonsense_Mutation_p.Y180*|ANTXR2_ENST00000295465.4_Nonsense_Mutation_p.Y257*	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	257						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CATTTACAGTGTAAGTGCAGA	0.378									Juvenile Hyaline Fibromatosis				16	12	---	---	---	---	0	0
PRDM8	56978	broad.mit.edu	37	4	81123131	81123131	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:81123131C>T	ENST00000339711.4	+	10	1746	c.515C>T	c.(514-516)gCg>gTg	p.A172V	PRDM8_ENST00000415738.2_Missense_Mutation_p.A172V|PRDM8_ENST00000504452.1_Missense_Mutation_p.A172V	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCCTATGTGGCGCATCTGCGT	0.597											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	67	86	---	---	---	---	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82355073	82355073	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:82355073C>G	ENST00000509081.1	-	12	1463	c.1242G>C	c.(1240-1242)tgG>tgC	p.W414C	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.W373C|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.W415C			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	415	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CCACTTGTTTCCATGTCATAA	0.378													11	202	---	---	---	---	0	0
MMRN1	22915	broad.mit.edu	37	4	90816530	90816530	+	Silent	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:90816530T>C	ENST00000394980.1	+	2	727	c.408T>C	c.(406-408)aaT>aaC	p.N136N	MMRN1_ENST00000264790.2_Silent_p.N136N|MMRN1_ENST00000394981.1_Silent_p.N102N			Q13201	MMRN1_HUMAN	multimerin 1	136					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCCTTTCCAATTCTACACTGA	0.458													47	62	---	---	---	---	0	0
NDST4	64579	broad.mit.edu	37	4	115997694	115997694	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:115997694C>T	ENST00000264363.2	-	2	1177	c.499G>A	c.(499-501)Gcc>Acc	p.A167T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	167	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCTCATTGGCTTTATGAAAA	0.353													30	32	---	---	---	---	0	0
NPY5R	4889	broad.mit.edu	37	4	164272284	164272284	+	Silent	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:164272284A>C	ENST00000515560.1	+	4	2381	c.859A>C	c.(859-861)Aga>Cga	p.R287R	NPY5R_ENST00000506953.1_Silent_p.R287R|NPY5R_ENST00000338566.3_Silent_p.R287R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	287					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAACACAGAAGAAGATATAG	0.413													44	43	---	---	---	---	0	0
TRIP13	9319	broad.mit.edu	37	5	914586	914586	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:914586A>G	ENST00000166345.3	+	11	1383	c.1027A>G	c.(1027-1029)Atc>Gtc	p.I343V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	343					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CCAGTGTCAGATCATATACCC	0.512													7	232	---	---	---	---	0	0
ARSB	411	broad.mit.edu	37	5	78251233	78251233	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:78251233C>G	ENST00000264914.4	-	4	1319	c.783G>C	c.(781-783)aaG>aaC	p.K261N	ARSB_ENST00000396151.3_Missense_Mutation_p.K261N|ARSB_ENST00000565165.1_Missense_Mutation_p.K261N	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	261					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GATGCCTGTTCTTGTCTTGGA	0.478													14	3	---	---	---	---	0	0
APC	324	broad.mit.edu	37	5	112175856	112175856	+	Nonsense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:112175856T>G	ENST00000457016.1	+	16	4945	c.4565T>G	c.(4564-4566)tTa>tGa	p.L1522*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.L1522*|APC_ENST00000508376.2_Nonsense_Mutation_p.L1522*			P25054	APC_HUMAN	adenomatous polyposis coli	1522	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATGTGGAATTAAGAATAATG	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			30	34	---	---	---	---	0	0
PCDHB11	0	broad.mit.edu	37	5	140579581	140579581	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:140579581C>G	ENST00000354757.3	+	1	234	c.234C>G	c.(232-234)gaC>gaG	p.D78E	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		78	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGCTGGACATAAACACTG	0.512													38	33	---	---	---	---	0	0
SLIT3	6586	broad.mit.edu	37	5	168175430	168175430	+	Missense_Mutation	SNP	T	T	A	rs34681650		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:168175430T>A	ENST00000519560.1	-	20	2566	c.2147A>T	c.(2146-2148)gAg>gTg	p.E716V	SLIT3_ENST00000404867.3_Missense_Mutation_p.E716V|SLIT3_ENST00000332966.8_Missense_Mutation_p.E716V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	716	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGCTACTCTCCTCGTTGCC	0.642													9	39	---	---	---	---	0	0
KIAA0319	9856	broad.mit.edu	37	6	24601303	24601303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:24601303G>T	ENST00000378214.3	-	2	553	c.29C>A	c.(28-30)tCa>tAa	p.S10*	KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000535378.1_5'UTR	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	10					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGCAGCAATGAAGAGAGCAC	0.532													5	88	---	---	---	---	0	0
DST	667	broad.mit.edu	37	6	56467779	56467779	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:56467779G>C	ENST00000370754.5	-	42	11108	c.11109C>G	c.(11107-11109)ttC>ttG	p.F3703L	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.F3525L|DST_ENST00000312431.6_Missense_Mutation_p.F3525L|DST_ENST00000370769.4_Missense_Mutation_p.F3525L|DST_ENST00000446842.2_Missense_Mutation_p.F3199L|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	3525					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCAATCTGAGAATGACTTAA	0.338													3	48	---	---	---	---	0	0
BAI3	577	broad.mit.edu	37	6	69349172	69349172	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:69349172T>C	ENST00000370598.1	+	3	1426	c.605T>C	c.(604-606)tTg>tCg	p.L202S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	202					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTCAGCATTTGGGAGAGTGG	0.473													25	38	---	---	---	---	0	0
HECW1	23072	broad.mit.edu	37	7	43495935	43495935	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:43495935A>T	ENST00000395891.2	+	13	3145	c.2540A>T	c.(2539-2541)tAt>tTt	p.Y847F	HECW1_ENST00000453890.1_Missense_Mutation_p.Y813F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGGGTCTTTTATGTGGACCAC	0.537													26	30	---	---	---	---	0	0
TSC22D4	81628	broad.mit.edu	37	7	100075364	100075364	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:100075364G>C	ENST00000300181.2	-	2	1052	c.298C>G	c.(298-300)Ctg>Gtg	p.L100V	TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	100					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGGCTCCAGGTCTCGCTCA	0.662													4	4	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100679631	100679631	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:100679631G>C	ENST00000306151.4	+	3	4998	c.4934G>C	c.(4933-4935)aGt>aCt	p.S1645T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1645	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGTGGCCAGTCCTGAGGCT	0.493													116	102	---	---	---	---	0	0
MET	0	broad.mit.edu	37	7	116409761	116409761	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:116409761T>G	ENST00000397752.3	+	12	2846	c.2646T>G	c.(2644-2646)tgT>tgG	p.C882W	MET_ENST00000318493.6_Missense_Mutation_p.C900W	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	882					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATAAGAGCTGTGAGAATATAC	0.378			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				29	20	---	---	---	---	0	0
FAM71F2	346653	broad.mit.edu	37	7	128312528	128312528	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:128312528T>G	ENST00000480462.1	+	1	183	c.77T>G	c.(76-78)cTt>cGt	p.L26R	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Missense_Mutation_p.L26R|FAM71F2_ENST00000378704.3_Missense_Mutation_p.L26R			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	26										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GAAAATGGCCTTCTTTGTCAA	0.498											OREG0018296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6	---	---	---	---	0	0
FAM71F2	346653	broad.mit.edu	37	7	128312529	128312529	+	Silent	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:128312529T>C	ENST00000480462.1	+	1	184	c.78T>C	c.(76-78)ctT>ctC	p.L26L	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Silent_p.L26L|FAM71F2_ENST00000378704.3_Silent_p.L26L			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	26										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						AAAATGGCCTTCTTTGTCAAC	0.498											OREG0018296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	7	---	---	---	---	0	0
DGKI	9162	broad.mit.edu	37	7	137308251	137308251	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:137308251C>A	ENST00000424189.2	-	7	1083	c.854G>T	c.(853-855)aGc>aTc	p.S285I	DGKI_ENST00000446122.1_Missense_Mutation_p.S285I|DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.S285I			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	285					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCAGGAACAGCTGATAGCCAC	0.423													73	99	---	---	---	---	0	0
TRPV6	55503	broad.mit.edu	37	7	142583149	142583149	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:142583149A>C	ENST00000359396.3	-	1	358	c.113T>G	c.(112-114)cTg>cGg	p.L38R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	38					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGCTGCAGCAGGTTCTGCTC	0.607													30	38	---	---	---	---	0	0
ANK1	286	broad.mit.edu	37	8	41559078	41559078	+	Silent	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:41559078C>A	ENST00000396942.1	-	22	2534	c.2451G>T	c.(2449-2451)tcG>tcT	p.S817S	ANK1_ENST00000352337.4_Silent_p.S817S|ANK1_ENST00000289734.7_Silent_p.S817S|ANK1_ENST00000347528.4_Silent_p.S817S|ANK1_ENST00000265709.8_Silent_p.S850S|ANK1_ENST00000379758.2_Silent_p.S817S|ANK1_ENST00000396945.1_Silent_p.S817S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	817	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTCATCTTCCGAGACATCCA	0.517											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	2	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113960064	113960064	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:113960064T>A	ENST00000297405.5	-	9	1707	c.1463A>T	c.(1462-1464)gAt>gTt	p.D488V	CSMD3_ENST00000343508.3_Missense_Mutation_p.D448V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D384V|CSMD3_ENST00000352409.3_Missense_Mutation_p.D488V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	488	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTCCTGGATCTGGGCATAA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	81	---	---	---	---	0	0
KIAA0196	9897	broad.mit.edu	37	8	126049568	126049568	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:126049568A>T	ENST00000318410.7	-	26	3441	c.3092T>A	c.(3091-3093)aTa>aAa	p.I1031K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.I883K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1031					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTTTGTTGTTATGTATATCTG	0.328													64	125	---	---	---	---	0	0
PIGO	84720	broad.mit.edu	37	9	35092294	35092294	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:35092294C>G	ENST00000378617.3	-	7	1984	c.1590G>C	c.(1588-1590)tgG>tgC	p.W530C	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.W530C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	530					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCAGCCAGCCCAGGCTTTCC	0.562													13	15	---	---	---	---	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396792	38396792	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:38396792G>A	ENST00000377698.3	+	2	1200	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	349					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGAAAGTGGGGAACCCCTTTG	0.567													14	17	---	---	---	---	0	0
KIAA0368	23392	broad.mit.edu	37	9	114199253	114199253	+	Silent	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:114199253A>G	ENST00000259335.4	-	8	1208	c.1209T>C	c.(1207-1209)ggT>ggC	p.G403G	KIAA0368_ENST00000338205.5_Silent_p.G225G	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATGGGTTATCACCAATAACTC	0.463													41	117	---	---	---	---	0	0
WDR31	114987	broad.mit.edu	37	9	116079080	116079080	+	Silent	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:116079080G>C	ENST00000374193.4	-	11	1299	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	WDR31_ENST00000374195.3_Silent_p.L226L|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Silent_p.L350L	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	351										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GGTCCATTCTGAGTAAGTGAA	0.502													48	32	---	---	---	---	0	0
CACNA1B	774	broad.mit.edu	37	9	140846798	140846798	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:140846798A>G	ENST00000371372.1	+	7	1184	c.1039A>G	c.(1039-1041)Atg>Gtg	p.M347V	CACNA1B_ENST00000277551.2_Missense_Mutation_p.M347V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M347V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	347					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCCTTCTTCATGCTCAACCT	0.587													3	39	---	---	---	---	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25160954	25160954	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:25160954G>A	ENST00000320152.6	-	4	406	c.378C>T	c.(376-378)ggC>ggT	p.G126G	PRTFDC1_ENST00000376378.1_Silent_p.G126G	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	126					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						AAAGATCATCGCCTCCGATTA	0.463													107	130	---	---	---	---	0	0
TLL2	7093	broad.mit.edu	37	10	98146717	98146717	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:98146717C>T	ENST00000357947.3	-	14	2070	c.1845G>A	c.(1843-1845)atG>atA	p.M615I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	615	EGF-like 1; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AACCTTCACACATCTTCTTAT	0.587													35	3	---	---	---	---	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115535574	115535574	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:115535574C>A	ENST00000354462.3	+	4	388	c.230C>A	c.(229-231)cCt>cAt	p.P77H	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.P327H|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.P245H|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.P347H|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.P161H					pleckstrin homology domain containing, family S member 1																		TTCCTTTCTCCTCCTGATGTC	0.438													40	48	---	---	---	---	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115535575	115535575	+	Silent	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:115535575T>G	ENST00000354462.3	+	4	389	c.231T>G	c.(229-231)ccT>ccG	p.P77P	PLEKHS1_ENST00000369310.3_Silent_p.P327P|PLEKHS1_ENST00000369312.4_Silent_p.P245P|PLEKHS1_ENST00000361048.1_Silent_p.P347P|PLEKHS1_ENST00000369309.1_Silent_p.P161P					pleckstrin homology domain containing, family S member 1																		TCCTTTCTCCTCCTGATGTCA	0.433													40	47	---	---	---	---	0	0
SSRP1	6749	broad.mit.edu	37	11	57095829	57095829	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:57095829T>C	ENST00000278412.2	-	13	1819	c.1553A>G	c.(1552-1554)aAa>aGa	p.K518R		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	518	Arg/Lys-rich (basic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TTTGAGCTGTTTCCGCTTCTT	0.567													5	60	---	---	---	---	0	0
SORL1	6653	broad.mit.edu	37	11	121490558	121490558	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:121490558G>A	ENST00000260197.7	+	43	5950	c.5821G>A	c.(5821-5823)Gtt>Att	p.V1941I	SORL1_ENST00000527934.1_Missense_Mutation_p.V556I|SORL1_ENST00000532694.1_Missense_Mutation_p.V787I|SORL1_ENST00000534286.1_Missense_Mutation_p.V851I|SORL1_ENST00000525532.1_Missense_Mutation_p.V885I	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1941	Fibronectin type-III 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTGCATGTGGTTCATACGGG	0.557													22	55	---	---	---	---	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793827	124793827	+	Silent	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:124793827T>G	ENST00000298251.4	-	3	912	c.507A>C	c.(505-507)tcA>tcC	p.S169S		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	169	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CATTCTCATGTGAGCAGTTCA	0.582													10	6	---	---	---	---	0	0
KRT78	196374	broad.mit.edu	37	12	53237983	53237983	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:53237983G>A	ENST00000359499.4	-	6	622	c.611C>T	c.(610-612)tCt>tTt	p.S204F	KRT78_ENST00000304620.4_Missense_Mutation_p.S314F			Q8N1N4	K2C78_HUMAN	keratin 78	314	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AAGCTGGGCAGACACCTGAAG	0.517													40	32	---	---	---	---	0	0
ESPL1	9700	broad.mit.edu	37	12	53676966	53676966	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:53676966A>G	ENST00000257934.4	+	15	2936	c.2845A>G	c.(2845-2847)Atc>Gtc	p.I949V	ESPL1_ENST00000552462.1_Missense_Mutation_p.I949V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	949					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTCCGAAGCATCATCCTCCT	0.532													7	50	---	---	---	---	0	0
ANO4	121601	broad.mit.edu	37	12	101493355	101493355	+	Splice_Site	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:101493355G>A	ENST00000392979.3	+	21	2262		c.e21-1		ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000550015.1_Splice_Site|ANO4_ENST00000392977.3_Splice_Site	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4							chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTTTGCCCAGGTTAATTCAG	0.328										HNSCC(74;0.22)			15	30	---	---	---	---	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558643	129558643	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:129558643T>G	ENST00000422113.2	-	9	3403	c.3077A>C	c.(3076-3078)gAt>gCt	p.D1026A	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D564A	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1026						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCTTTCCCATCAATGATGAT	0.468													16	67	---	---	---	---	0	0
CENPJ	55835	broad.mit.edu	37	13	25478177	25478177	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr13:25478177C>G	ENST00000381884.4	-	8	2897	c.2712G>C	c.(2710-2712)caG>caC	p.Q904H	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q904H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	904					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCTCAAAACCTGGGATCGAG	0.368													28	55	---	---	---	---	0	0
COL4A1	1282	broad.mit.edu	37	13	110814789	110814789	+	Splice_Site	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr13:110814789C>A	ENST00000375820.4	-	48	4371	c.4250G>T	c.(4249-4251)gGt>gTt	p.G1417V	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1417	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCTCTTGGACCTGGAAGATA	0.468													12	38	---	---	---	---	0	0
SLC22A17	51310	broad.mit.edu	37	14	23821250	23821250	+	Translation_Start_Site	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:23821250C>T	ENST00000397260.3	-	0	625				SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000354772.3_Silent_p.S58S|SLC22A17_ENST00000397267.1_Silent_p.S58S|SLC22A17_ENST00000206544.8_Silent_p.S58S			Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17						siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	p.S58S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGCCGCTGCACGAGGGGTCGG	0.672													3	4	---	---	---	---	0	0
PSMA6	5687	broad.mit.edu	37	14	35782199	35782199	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:35782199G>C	ENST00000261479.4	+	5	642	c.522G>C	c.(520-522)gaG>gaC	p.E174D	PSMA6_ENST00000553809.1_Missense_Mutation_p.E180D|PSMA6_ENST00000556506.1_Missense_Mutation_p.E174D|PSMA6_ENST00000540871.1_Missense_Mutation_p.E155D|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Missense_Mutation_p.E95D	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	174					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AACAAACTGAGTCAACCAGCT	0.403													9	134	---	---	---	---	0	0
FLVCR2	55640	broad.mit.edu	37	14	76091035	76091035	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:76091035T>G	ENST00000238667.4	+	3	1248	c.892T>G	c.(892-894)Tta>Gta	p.L298V	FLVCR2_ENST00000556856.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000539311.1_Missense_Mutation_p.L93V|FLVCR2_ENST00000553587.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000556241.1_3'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	298					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGCCTCATACTTAGGTTCCAT	0.473													35	41	---	---	---	---	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442111	103442111	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:103442111C>A	ENST00000361246.2	-	11	1705	c.1417G>T	c.(1417-1419)Ggc>Tgc	p.G473C		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	473					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGAGATGAGCCGTGGAGGGAC	0.557													10	153	---	---	---	---	0	0
HERC2	8924	broad.mit.edu	37	15	28437220	28437220	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:28437220C>A	ENST00000261609.7	-	53	8446	c.8338G>T	c.(8338-8340)Gac>Tac	p.D2780Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2780	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GACCAGCTGTCCAGCAGCATG	0.567											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	81	---	---	---	---	0	0
HERC2	8924	broad.mit.edu	37	15	28437221	28437221	+	Silent	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:28437221C>A	ENST00000261609.7	-	53	8445	c.8337G>T	c.(8335-8337)ctG>ctT	p.L2779L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2779	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCAGCTGTCCAGCAGCATGC	0.567											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	80	---	---	---	---	0	0
AP4E1	23431	broad.mit.edu	37	15	51221310	51221310	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:51221310A>C	ENST00000261842.5	+	6	753	c.647A>C	c.(646-648)gAc>gCc	p.D216A	AP4E1_ENST00000560508.1_Missense_Mutation_p.D141A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	216					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GCACTTTGTGACAGAGATGTT	0.353													12	81	---	---	---	---	0	0
WDR72	256764	broad.mit.edu	37	15	54025336	54025336	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:54025336G>T	ENST00000396328.1	-	2	250	c.11C>A	c.(10-12)tCc>tAc	p.S4Y	WDR72_ENST00000559418.1_Missense_Mutation_p.S4Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S4Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S4Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	4										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGCCTGCAGGGAAGTCCTCAT	0.473													24	31	---	---	---	---	0	0
PTPN9	5780	broad.mit.edu	37	15	75819591	75819591	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:75819591C>T	ENST00000306726.2	-	2	587	c.75G>A	c.(73-75)caG>caA	p.Q25Q	CTD-2323K18.1_ENST00000568707.1_RNA	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	25						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCGAGAAACTGCTTGGTAG	0.393													22	26	---	---	---	---	0	0
IL16	3603	broad.mit.edu	37	15	81598853	81598853	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:81598853G>A	ENST00000394660.2	+	18	4129	c.3769G>A	c.(3769-3771)Gac>Aac	p.D1257N	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000302987.4_Missense_Mutation_p.D1258N|IL16_ENST00000394652.2_Missense_Mutation_p.D557N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1258	PDZ 4.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCTACACGGAGACAAGCCTCT	0.577													40	56	---	---	---	---	0	0
FES	2242	broad.mit.edu	37	15	91437015	91437015	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:91437015G>T	ENST00000328850.3	+	17	2319	c.2177G>T	c.(2176-2178)tGg>tTg	p.W726L	FES_ENST00000394300.3_Missense_Mutation_p.W668L|FES_ENST00000450438.2_Missense_Mutation_p.W598L|FES_ENST00000394302.1_Missense_Mutation_p.W585L|FES_ENST00000414248.2_Missense_Mutation_p.W598L|FES_ENST00000444422.2_Missense_Mutation_p.W656L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	726	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCGTGAAGTGGACCGCACCT	0.617													8	85	---	---	---	---	0	0
TRIM72	493829	broad.mit.edu	37	16	31234164	31234164	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:31234164G>T	ENST00000322122.3	+	6	1041	c.757G>T	c.(757-759)Gca>Tca	p.A253S		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	253					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GAAGATCCTGGCAGAGTCTCC	0.612													3	25	---	---	---	---	0	0
B3GNT9	84752	broad.mit.edu	37	16	67183601	67183601	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:67183601G>A	ENST00000449549.3	-	2	1323	c.788C>T	c.(787-789)cCc>cTc	p.P263L		NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	263					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						CGTGCGGATGGGCCGCGCATG	0.657													4	15	---	---	---	---	0	0
SF3B3	23450	broad.mit.edu	37	16	70589037	70589037	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:70589037G>A	ENST00000302516.5	+	13	1849	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	546					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAATTGTGAAGTGTGCAGTGA	0.463													67	49	---	---	---	---	0	0
CMTR2	55783	broad.mit.edu	37	16	71318227	71318227	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:71318227A>C	ENST00000338099.5	-	3	1933	c.1597T>G	c.(1597-1599)Ttg>Gtg	p.L533V	CMTR2_ENST00000434935.2_Missense_Mutation_p.L533V					cap methyltransferase 2	533																	TTGGAATCCAAATTAAAAGCT	0.343													33	19	---	---	---	---	0	0
GAS8	2622	broad.mit.edu	37	16	90106851	90106851	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:90106851C>G	ENST00000268699.4	+	9	1277	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	GAS8_ENST00000536122.1_Missense_Mutation_p.F360L|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	385					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGGTGCAGTTCAACGAGGTCC	0.622													14	2	---	---	---	---	0	0
MYH2	4620	broad.mit.edu	37	17	10446277	10446277	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:10446277C>T	ENST00000245503.5	-	10	1203	c.819G>A	c.(817-819)aaG>aaA	p.K273K	MYH2_ENST00000532183.2_Silent_p.K273K|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.K273K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	273	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAACTCTAGACTTCTCTAGCA	0.313													3	19	---	---	---	---	0	0
CDK12	51755	broad.mit.edu	37	17	37676290	37676290	+	Silent	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:37676290A>G	ENST00000447079.4	+	11	3078	c.3045A>G	c.(3043-3045)ctA>ctG	p.L1015L	CDK12_ENST00000430627.2_Silent_p.L1015L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1015	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AACAGACCCTACAGAGCGACT	0.473			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			33	9	---	---	---	---	0	0
BRCA1	672	broad.mit.edu	37	17	41251796	41251796	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:41251796T>G	ENST00000357654.3	-	7	661	c.543A>C	c.(541-543)gaA>gaC	p.E181D	BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000346315.3_Missense_Mutation_p.E181D|BRCA1_ENST00000352993.3_Missense_Mutation_p.E181D|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.E181D|BRCA1_ENST00000354071.3_Missense_Mutation_p.E181D|BRCA1_ENST00000493795.1_Missense_Mutation_p.E134D|BRCA1_ENST00000471181.2_Missense_Mutation_p.E181D|BRCA1_ENST00000491747.2_Missense_Mutation_p.E181D|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.E181D|BRCA1_ENST00000591849.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	181					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTTACCCAATTCAATGTAGA	0.378			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			140	105	---	---	---	---	0	0
OR4D2	124538	broad.mit.edu	37	17	56247778	56247778	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:56247778C>A	ENST00000545221.1	+	1	762	c.762C>A	c.(760-762)agC>agA	p.S254R		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCGTTCCAAGCATTTACCTCT	0.537													33	3	---	---	---	---	0	0
ZNF556	80032	broad.mit.edu	37	19	2877442	2877442	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:2877442G>A	ENST00000586426.1	+	4	570	c.483G>A	c.(481-483)ctG>ctA	p.L161L	ZNF556_ENST00000307635.2_Silent_p.L162L			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCATCCCTGATAAGGCACA	0.428													40	51	---	---	---	---	0	0
CD209	30835	broad.mit.edu	37	19	7812334	7812334	+	Translation_Start_Site	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:7812334G>A	ENST00000593660.1	-	0	63				CD209_ENST00000301357.8_Intron|CD209_ENST00000601256.1_De_novo_Start_OutOfFrame|CD209_ENST00000204801.8_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000354397.6_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_De_novo_Start_OutOfFrame|CD209_ENST00000315591.8_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000315599.7_Intron			Q9NNX6	CD209_HUMAN	CD209 molecule						cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GAATCCCAGCGTCCCAACCCA	0.607													87	78	---	---	---	---	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273222	18273222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:18273222G>T	ENST00000593731.1	+	9	1575	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	PIK3R2_ENST00000222254.8_Nonsense_Mutation_p.E339*			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	339	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CCACAGGGAGGAGGTGAACGA	0.617													13	19	---	---	---	---	0	0
GIPR	2696	broad.mit.edu	37	19	46184863	46184863	+	Splice_Site	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:46184863G>T	ENST00000590918.1	+	13	1253	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	GIPR_ENST00000304207.8_Splice_Site_p.G349V|GIPR_ENST00000263281.3_Splice_Site_p.G385V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	385					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TCTGGGCAGGGCTTCCTGGTC	0.652													4	23	---	---	---	---	0	0
ZC3H4	23211	broad.mit.edu	37	19	47593282	47593282	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:47593282G>T	ENST00000253048.5	-	5	694	c.657C>A	c.(655-657)gaC>gaA	p.D219E	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	219							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTTTGGTGAAGTCGTCATAGT	0.582													18	23	---	---	---	---	0	0
PLCB4	5332	broad.mit.edu	37	20	9416222	9416222	+	Nonsense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:9416222T>G	ENST00000378501.2	+	25	2519	c.2504T>G	c.(2503-2505)tTa>tGa	p.L835*	PLCB4_ENST00000378493.1_Nonsense_Mutation_p.L835*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.L835*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.L835*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.L847*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.L847*|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	835					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTGGATGCTTTATCAGATCCA	0.338													14	27	---	---	---	---	0	0
ACSS2	55902	broad.mit.edu	37	20	33509154	33509154	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:33509154G>T	ENST00000360596.2	+	11	1510	c.1299G>T	c.(1297-1299)caG>caT	p.Q433H	ACSS2_ENST00000253382.5_Missense_Mutation_p.Q446H|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.Q383H	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	433					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATCCTTGCAGGTGTTAGGCA	0.602													7	64	---	---	---	---	0	0
CEP250	11190	broad.mit.edu	37	20	34099346	34099346	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:34099346T>A	ENST00000397527.1	+	35	7940	c.7220T>A	c.(7219-7221)cTg>cAg	p.L2407Q	CEP250_ENST00000342580.4_Missense_Mutation_p.L2351Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2407					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCACTGTCCTGGAGGCAGAG	0.647													3	41	---	---	---	---	0	0
MLC1	23209	broad.mit.edu	37	22	50500057	50500057	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr22:50500057G>A	ENST00000311597.5	-	12	1695	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D	MLC1_ENST00000450140.2_Silent_p.D311D|MLC1_ENST00000395876.2_Silent_p.D363D|MLC1_ENST00000538737.1_Silent_p.D329D|MLC1_ENST00000431262.2_Silent_p.D333D|MLC1_ENST00000535444.1_Silent_p.D284D|MLC1_ENST00000483836.1_5'UTR	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	363						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CTTTCTCCTTGTCGAACTCCT	0.642													25	25	---	---	---	---	0	0
YIPF6	286451	broad.mit.edu	37	X	67731784	67731784	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:67731784A>T	ENST00000462683.1	+	2	895	c.151A>T	c.(151-153)Agc>Tgc	p.S51C	YIPF6_ENST00000470730.1_3'UTR|YIPF6_ENST00000374622.2_Intron	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	51						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GGAGTTTGACAGCTCCACATT	0.408													99	4	---	---	---	---	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128894500	128894500	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:128894500C>T	ENST00000371106.3	+	16	1633	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	481					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GGCATACACCCGTGTGCTGAT	0.552													129	166	---	---	---	---	0	0
ELF4	2000	broad.mit.edu	37	X	129200819	129200819	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:129200819G>A	ENST00000308167.5	-	9	2248	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	ELF4_ENST00000335997.7_Silent_p.S623S	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	623					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCATCAGCAGGGACCCTGAGC	0.592			T	ERG	AML								19	78	---	---	---	---	0	0
MAP7D3	79649	broad.mit.edu	37	X	135309468	135309468	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:135309468T>A	ENST00000316077.9	-	12	2229	c.2009A>T	c.(2008-2010)cAg>cTg	p.Q670L	MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q652L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q635L|MAP7D3_ENST00000495432.1_5'UTR	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	670						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTGGTCTTCCTGATCCAGCCA	0.448													28	38	---	---	---	---	0	0
L1CAM	3897	broad.mit.edu	37	X	153130077	153130077	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:153130077G>C	ENST00000370060.1	-	24	3318	c.3129C>G	c.(3127-3129)tgC>tgG	p.C1043W	L1CAM_ENST00000361699.4_Missense_Mutation_p.C1043W|L1CAM_ENST00000370057.3_Missense_Mutation_p.C1043W|L1CAM_ENST00000543994.1_Missense_Mutation_p.C1045W|L1CAM_ENST00000370055.1_Missense_Mutation_p.C1038W|L1CAM_ENST00000361981.3_Missense_Mutation_p.C1038W|L1CAM_ENST00000538883.1_Missense_Mutation_p.C1045W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1043	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGAAGTTGCACTGGCCCT	0.597													48	65	---	---	---	---	0	0
ETV3L	440695	broad.mit.edu	37	1	157062700	157062700	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr1:157062700C>T	ENST00000454449.2	-	5	1111	c.827G>A	c.(826-828)aGc>aAc	p.S276N		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	276	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CCCTGGGAGGCTCCTAGGTCC	0.642													12	21	---	---	---	---	0	0
IPO9	55705	broad.mit.edu	37	1	201822199	201822199	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr1:201822199A>G	ENST00000361565.4	+	6	733	c.664A>G	c.(664-666)Atc>Gtc	p.I222V	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	222					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGCCCATATGATCTGTAACAT	0.438													5	182	---	---	---	---	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529581	80529581	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:80529581G>A	ENST00000295057.3	-	2	2020	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A455V|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	455						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCTGAGGCTGGCTGGGAAACA	0.572										HNSCC(69;0.2)			19	27	---	---	---	---	0	0
VWA3B	200403	broad.mit.edu	37	2	98844716	98844716	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:98844716C>A	ENST00000477737.1	+	15	2275	c.2071C>A	c.(2071-2073)Ctg>Atg	p.L691M		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	691										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCACAGTGATCTGGAGAAGAT	0.433													19	44	---	---	---	---	0	0
FN1	2335	broad.mit.edu	37	2	216269132	216269132	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:216269132G>A	ENST00000354785.4	-	20	3602	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V	FN1_ENST00000357867.4_Missense_Mutation_p.A1078V|FN1_ENST00000446046.1_Missense_Mutation_p.A1078V|FN1_ENST00000432072.2_Missense_Mutation_p.A1078V|FN1_ENST00000443816.1_Missense_Mutation_p.A1078V|FN1_ENST00000345488.5_Missense_Mutation_p.A1078V|FN1_ENST00000356005.4_Missense_Mutation_p.A1078V|FN1_ENST00000323926.6_Missense_Mutation_p.A1078V|FN1_ENST00000336916.4_Missense_Mutation_p.A1078V|FN1_ENST00000359671.1_Missense_Mutation_p.A1078V|FN1_ENST00000346544.3_Missense_Mutation_p.A1078V|FN1_ENST00000357009.2_Missense_Mutation_p.A1078V|FN1_ENST00000421182.1_Missense_Mutation_p.A1078V			P02751	FINC_HUMAN	fibronectin 1	1078	Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTCCAGTGGCTTTGGGGCT	0.433													6	87	---	---	---	---	0	0
EVC2	132884	broad.mit.edu	37	4	5564760	5564760	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr4:5564760G>A	ENST00000310917.2	-	22	4233	c.3502C>T	c.(3502-3504)Ccc>Tcc	p.P1168S	EVC2_ENST00000344408.5_Missense_Mutation_p.P1248S|EVC2_ENST00000344938.1_Intron	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1248						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCGCCAATGGGCTCCAGTGAC	0.443													9	146	---	---	---	---	0	0
CXCL1	2919	broad.mit.edu	37	4	74735480	74735480	+	Silent	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr4:74735480C>T	ENST00000395761.3	+	2	262	c.195C>T	c.(193-195)ccC>ccT	p.P65P	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	65					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGAAGTCCCCCGGACCCCACT	0.652													37	68	---	---	---	---	0	0
ATXN1	6310	broad.mit.edu	37	6	16328576	16328576	+	Translation_Start_Site	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr6:16328576C>T	ENST00000244769.4	-	0	902				ATXN1_ENST00000436367.1_De_novo_Start_OutOfFrame	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1						cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GACTGTTTCACTGTCTGGATG	0.527													3	8	---	---	---	---	0	0
TNRC18	84629	broad.mit.edu	37	7	5353440	5353440	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr7:5353440G>A	ENST00000399537.4	-	27	7430	c.7082C>T	c.(7081-7083)cCc>cTc	p.P2361L	TNRC18_ENST00000430969.1_Missense_Mutation_p.P2361L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2361	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGGCTAAGGGGGTACTGGG	0.662													10	18	---	---	---	---	0	0
INTS9	55756	broad.mit.edu	37	8	28692856	28692856	+	Silent	SNP	C	C	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr8:28692856C>A	ENST00000416984.2	-	5	737	c.378G>T	c.(376-378)gtG>gtT	p.V126V	INTS9_ENST00000521022.1_Silent_p.V147V|INTS9_ENST00000521777.1_Silent_p.V123V|INTS9_ENST00000397363.4_Silent_p.V41V	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	147					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GAGCCTTTGGCACTCTTTCAA	0.443													3	37	---	---	---	---	0	0
MTDH	92140	broad.mit.edu	37	8	98712028	98712028	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr8:98712028G>T	ENST00000336273.3	+	7	1423	c.1095G>T	c.(1093-1095)caG>caT	p.Q365H	MTDH_ENST00000519934.1_Intron	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	365					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CTGATTATCAGTGGGATGTTA	0.328													31	56	---	---	---	---	0	0
HHEX	3087	broad.mit.edu	37	10	94454307	94454307	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454307A>C	ENST00000282728.5	+	4	2394	c.595A>C	c.(595-597)Aac>Cac	p.N199H	HHEX_ENST00000472590.2_Missense_Mutation_p.N27H|HHEX_ENST00000492654.2_Missense_Mutation_p.N27H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	199					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						TATTCAGGAGAACCCTCAAAG	0.368													11	13	---	---	---	---	0	0
HHEX	3087	broad.mit.edu	37	10	94454330	94454330	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454330A>C	ENST00000282728.5	+	4	2417	c.618A>C	c.(616-618)gaA>gaC	p.E206D	HHEX_ENST00000472590.2_Missense_Mutation_p.E34D|HHEX_ENST00000492654.2_Missense_Mutation_p.E34D	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	206					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATAAAAAAGAAGAACTGGAAA	0.393													12	20	---	---	---	---	0	0
HHEX	3087	broad.mit.edu	37	10	94454417	94454417	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454417A>C	ENST00000282728.5	+	4	2504	c.705A>C	c.(703-705)caA>caC	p.Q235H	HHEX_ENST00000472590.2_Missense_Mutation_p.Q63H|HHEX_ENST00000492654.2_Missense_Mutation_p.Q63H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	235					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATAGCTCTCAATGTTCGCCCT	0.438													17	27	---	---	---	---	0	0
OR51M1	390059	broad.mit.edu	37	11	5410912	5410912	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr11:5410912G>A	ENST00000328611.3	+	1	306	c.284G>A	c.(283-285)gGg>gAg	p.G95E	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	95						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCACTATGGGGATCTTCTGG	0.507													35	81	---	---	---	---	0	0
NOS1	4842	broad.mit.edu	37	12	117657907	117657907	+	Silent	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr12:117657907G>A	ENST00000317775.6	-	27	4828	c.4143C>T	c.(4141-4143)gaC>gaT	p.D1381D	NOS1_ENST00000338101.4_Silent_p.D1415D|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1381					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D1381D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATACGCCGGCGTCCTCTGCCG	0.577													29	72	---	---	---	---	0	0
DIO3	1735	broad.mit.edu	37	14	102027947	102027947	+	Silent	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr14:102027947C>T	ENST00000359323.3	+	1	260	c.36C>T	c.(34-36)ctC>ctT	p.L12L	DIO3_ENST00000510508.4_Silent_p.L38L	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	12					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCTTGAGGCTCTGCGCCCAGA	0.657													10	25	---	---	---	---	0	0
NEK8	284086	broad.mit.edu	37	17	27062354	27062354	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr17:27062354G>A	ENST00000268766.6	+	4	617	c.583G>A	c.(583-585)Gag>Aag	p.E195K	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	195	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGTCCTCTACGAGCTGGCCAG	0.602													7	16	---	---	---	---	0	0
PTGES3L-AARSD1	0	broad.mit.edu	37	17	41107892	41107892	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr17:41107892T>C	ENST00000421990.2	-	12	1628	c.1283A>G	c.(1282-1284)cAt>cGt	p.H428R	AARSD1_ENST00000427569.2_Missense_Mutation_p.H254R|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.H367R|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.H337R|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.H428R	NM_001136042.2	NP_001129514.2																					TTCAGTTCCATGACTTCTCTC	0.438													5	155	---	---	---	---	0	0
PEG3	5178	broad.mit.edu	37	19	57326531	57326531	+	Silent	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr19:57326531G>A	ENST00000326441.9	-	10	3642	c.3279C>T	c.(3277-3279)gaC>gaT	p.D1093D	PEG3_ENST00000598410.1_Silent_p.D969D|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.D967D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.D1093D|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1093					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTCTTCCATGTCTGAGCCTT	0.522													41	60	---	---	---	---	0	0
CFHR2	3080	broad.mit.edu	37	1	196928040	196928040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr1:196928040G>T	ENST00000367415.5	+	5	743	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	CFHR2_ENST00000476712.2_Nonsense_Mutation_p.E199*|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.E215*	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2		Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AGAAATTATGGAAAAATATAA	0.284													9	45	---	---	---	---	0	0
FGB	2244	broad.mit.edu	37	4	155490938	155490938	+	Missense_Mutation	SNP	G	G	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr4:155490938G>T	ENST00000302068.4	+	7	1294	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y	FGB_ENST00000509493.1_Missense_Mutation_p.D192Y|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	411	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTATGACAGAGACAATGACGG	0.428													14	58	---	---	---	---	0	0
MAP1B	4131	broad.mit.edu	37	5	71492635	71492635	+	Silent	SNP	G	G	A			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr5:71492635G>A	ENST00000296755.7	+	5	3751	c.3453G>A	c.(3451-3453)gaG>gaA	p.E1151E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1151						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACAATGAAGAGACGGAGTCCC	0.453													4	39	---	---	---	---	0	0
ANXA6	309	broad.mit.edu	37	5	150510817	150510817	+	Missense_Mutation	SNP	G	G	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr5:150510817G>T	ENST00000354546.5	-	11	997	c.770C>A	c.(769-771)gCt>gAt	p.A257D	ANXA6_ENST00000356496.5_Missense_Mutation_p.A257D|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.A225D	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	257						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCCTTTCAGCAAAATATTC	0.527													4	136	---	---	---	---	0	0
FGD2	221472	broad.mit.edu	37	6	36993603	36993603	+	Silent	SNP	A	A	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr6:36993603A>G	ENST00000274963.8	+	14	1665	c.1494A>G	c.(1492-1494)gaA>gaG	p.E498E		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	498					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACCGGGCCGAACTGAAATACG	0.622													6	48	---	---	---	---	0	0
CLN8	2055	broad.mit.edu	37	8	1728426	1728426	+	Missense_Mutation	SNP	C	C	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:1728426C>G	ENST00000331222.4	+	3	801	c.554C>G	c.(553-555)tCc>tGc	p.S185C	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	185	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GCGGGCTGGTCCGAGTCTCTG	0.463													13	59	---	---	---	---	0	0
CSMD1	64478	broad.mit.edu	37	8	2886875	2886875	+	Silent	SNP	C	C	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:2886875C>T	ENST00000602557.1	-	52	8379	c.7824G>A	c.(7822-7824)acG>acA	p.T2608T	CSMD1_ENST00000542608.1_Silent_p.T2607T|CSMD1_ENST00000520002.1_Silent_p.T2608T|CSMD1_ENST00000602723.1_Silent_p.T2608T|CSMD1_ENST00000537824.1_Silent_p.T2607T|CSMD1_ENST00000400186.3_Silent_p.T2608T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2608	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTATGTTCCACGTCCCATTGG	0.522													10	36	---	---	---	---	0	0
CDCA2	157313	broad.mit.edu	37	8	25340925	25340925	+	Missense_Mutation	SNP	A	A	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:25340925A>T	ENST00000330560.3	+	9	1520	c.1043A>T	c.(1042-1044)aAc>aTc	p.N348I	CDCA2_ENST00000380665.3_Missense_Mutation_p.N333I|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	348					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GAACACTGTAACAACCTCTAT	0.323													31	60	---	---	---	---	0	0
NBN	4683	broad.mit.edu	37	8	90965618	90965618	+	Missense_Mutation	SNP	A	A	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:90965618A>G	ENST00000265433.3	-	11	1853	c.1699T>C	c.(1699-1701)Ttc>Ctc	p.F567L	NBN_ENST00000409330.1_Missense_Mutation_p.F485L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	567					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTGTCCTTGAATAACTGTTCC	0.348								Homologous recombination					17	133	---	---	---	---	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111714527	111714527	+	Missense_Mutation	SNP	G	G	C			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr9:111714527G>C	ENST00000374595.4	-	14	1876	c.1797C>G	c.(1795-1797)aaC>aaG	p.N599K	CTNNAL1_ENST00000374594.1_5'UTR|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.N515K|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.N599K			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	599					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TACTGGACATGTTCCGTCCAT	0.358													24	53	---	---	---	---	0	0
KRT6C	286887	broad.mit.edu	37	12	52865005	52865005	+	Missense_Mutation	SNP	G	G	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:52865005G>T	ENST00000252250.6	-	5	1035	c.988C>A	c.(988-990)Ctg>Atg	p.L330M		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	330	Linker 12.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		ATGCTGTCCAGGTCCAGGTTG	0.562													4	159	---	---	---	---	0	0
POC1B	282809	broad.mit.edu	37	12	89885713	89885713	+	Splice_Site	SNP	T	T	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:89885713T>G	ENST00000393179.4	-	2	675	c.62A>C	c.(61-63)aAa>aCa	p.K21T	POC1B_ENST00000378528.2_Splice_Site_p.K21T|POC1B_ENST00000313546.3_Splice_Site_p.K151T|POC1B_ENST00000541909.1_Splice_Site_p.K21T|POC1B_ENST00000549035.1_Splice_Site_p.K109T|POC1B_ENST00000549504.1_Splice_Site_p.K21T					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TTGCACTTACTTGGCACAGCG	0.403													19	100	---	---	---	---	0	0
COQ5	84274	broad.mit.edu	37	12	120966916	120966916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:120966916C>T	ENST00000288532.6	-	1	69	c.29G>A	c.(28-30)tGg>tAg	p.W10*	COQ5_ENST00000445328.2_Nonsense_Mutation_p.W10*	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	10					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAATAGCTCCATAGAGCACA	0.662													5	22	---	---	---	---	0	0
ALG5	29880	broad.mit.edu	37	13	37567800	37567800	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr13:37567800G>A	ENST00000239891.3	-	4	361	c.295C>T	c.(295-297)Cct>Tct	p.P99S	ALG5_ENST00000413537.2_Missense_Mutation_p.P99S|ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Intron	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	99					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GTGAACGCAGGATCTCGTTTC	0.313													7	117	---	---	---	---	0	0
TOX4	9878	broad.mit.edu	37	14	21955847	21955847	+	Missense_Mutation	SNP	A	A	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr14:21955847A>G	ENST00000405508.1	+	4	589	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	TOX4_ENST00000262709.3_Missense_Mutation_p.T105A|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Missense_Mutation_p.T82A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	105						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGGGGGCTTGACCATGGTAAG	0.547													21	56	---	---	---	---	0	0
CORO2B	10391	broad.mit.edu	37	15	69011503	69011503	+	Missense_Mutation	SNP	C	C	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr15:69011503C>G	ENST00000543950.1	+	10	1440	c.1086C>G	c.(1084-1086)gaC>gaG	p.D362E	CORO2B_ENST00000261861.5_Missense_Mutation_p.D362E|CORO2B_ENST00000566799.1_Missense_Mutation_p.D367E|CORO2B_ENST00000540068.1_Missense_Mutation_p.D362E	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	367					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACCAGGAAGACATTTACCCAA	0.572													8	90	---	---	---	---	0	0
CHD3	1107	broad.mit.edu	37	17	7804250	7804250	+	Missense_Mutation	SNP	A	A	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:7804250A>G	ENST00000380358.4	+	19	3237	c.3236A>G	c.(3235-3237)aAt>aGt	p.N1079S	CHD3_ENST00000330494.7_Missense_Mutation_p.N1020S|CHD3_ENST00000358181.4_Missense_Mutation_p.N1020S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1020	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCGCTGCTTAATATCATGATG	0.473													41	79	---	---	---	---	0	0
MAP2K4	6416	broad.mit.edu	37	17	11958264	11958264	+	Missense_Mutation	SNP	G	G	C			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:11958264G>C	ENST00000415385.3	+	3	260	c.207G>C	c.(205-207)agG>agC	p.R69S	MAP2K4_ENST00000353533.5_Missense_Mutation_p.R58S	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	58					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTACAGCAAGGTTTACTCTGA	0.348			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								5	51	---	---	---	---	0	0
NCOR1	9611	broad.mit.edu	37	17	15964819	15964819	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:15964819G>A	ENST00000268712.3	-	37	6034	c.5777C>T	c.(5776-5778)aCc>aTc	p.T1926I	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.T510I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1926	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCAGTAATGGTAGTCTTCCC	0.478													5	275	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			45	98	---	---	---	---	0	0
MAN2B1	4125	broad.mit.edu	37	19	12760801	12760801	+	Missense_Mutation	SNP	G	G	C			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr19:12760801G>C	ENST00000456935.2	-	18	2233	c.2193C>G	c.(2191-2193)agC>agG	p.S731R	MAN2B1_ENST00000221363.4_Missense_Mutation_p.S730R	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	731					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGTCAAAACGGCTGATGACCT	0.592													6	183	---	---	---	---	0	0
ZNF507	22847	broad.mit.edu	37	19	32844700	32844700	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr19:32844700G>A	ENST00000311921.4	+	2	1156	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ZNF507_ENST00000544431.1_Missense_Mutation_p.V322M|ZNF507_ENST00000355898.5_Missense_Mutation_p.V322M	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGGGCCATCAGTGCAAGTGCA	0.498													36	189	---	---	---	---	0	0
SPEN	23013	broad.mit.edu	37	1	16260826	16260826	+	Silent	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr1:16260826G>A	ENST00000375759.3	+	11	8295	c.8091G>A	c.(8089-8091)gtG>gtA	p.V2697V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2697	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGGCCTGTGAATGTTCTTA	0.597													11	79	---	---	---	---	0	0
ILDR2	387597	broad.mit.edu	37	1	166904684	166904684	+	Missense_Mutation	SNP	C	C	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr1:166904684C>G	ENST00000271417.3	-	6	789	c.734G>C	c.(733-735)gGg>gCg	p.G245A	ILDR2_ENST00000469934.2_Missense_Mutation_p.G245A|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G226A|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	245						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGGAGGGTACCCGGCCTTTGC	0.582													10	25	---	---	---	---	0	0
LTBP1	4052	broad.mit.edu	37	2	33487888	33487888	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:33487888G>T	ENST00000354476.3	+	14	2541	c.2518G>T	c.(2518-2520)Ggt>Tgt	p.G840C	LTBP1_ENST00000404816.2_Splice_Site_p.V840L|LTBP1_ENST00000390003.4_Missense_Mutation_p.G514C|LTBP1_ENST00000407925.1_Splice_Site_p.V514L|LTBP1_ENST00000404525.1_Splice_Site_p.V461L|LTBP1_ENST00000402934.1_Splice_Site_p.V461L|LTBP1_ENST00000418533.2_Splice_Site_p.V514L	NM_206943.2	NP_996826.2	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	839					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.G840S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACAGTTTCCAGGTAGCCTGTG	0.403													10	18	---	---	---	---	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514462	113514462	+	Silent	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:113514462A>G	ENST00000302450.6	-	4	564	c.486T>C	c.(484-486)tgT>tgC	p.C162C	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	162						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TAAAGTCTATACATTTACCAT	0.343													14	35	---	---	---	---	0	0
OR6B2	389090	broad.mit.edu	37	2	240969799	240969799	+	Silent	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:240969799G>A	ENST00000402971.2	-	1	107	c.48C>T	c.(46-48)ggC>ggT	p.G16G		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCGTGGGGAGGCCCACCAGGA	0.567													11	31	---	---	---	---	0	0
PLD1	5337	broad.mit.edu	37	3	171362776	171362776	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr3:171362776G>T	ENST00000356327.5	-	21	2423	c.2353C>A	c.(2353-2355)Ctt>Att	p.L785I	PLD1_ENST00000340989.4_Missense_Mutation_p.L823I|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.L823I	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	823	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CCTGGCAGAAGTGGTATCACG	0.423													5	139	---	---	---	---	0	0
PRSS12	8492	broad.mit.edu	37	4	119204214	119204214	+	Missense_Mutation	SNP	G	G	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr4:119204214G>C	ENST00000296498.3	-	12	2374	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	698	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCTGGTACCAGAGTATGATAA	0.453													14	167	---	---	---	---	0	0
DCHS2	54798	broad.mit.edu	37	4	155219050	155219050	+	Missense_Mutation	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr4:155219050A>G	ENST00000357232.4	-	18	5050	c.5051T>C	c.(5050-5052)tTc>tCc	p.F1684S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGGTGGCTGAAGGAAATCTT	0.443													14	27	---	---	---	---	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64766898	64766898	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:64766898G>T	ENST00000536360.1	-	3	982	c.169C>A	c.(169-171)Ctc>Atc	p.L57I				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	57					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTAAAGCTGAGAAATGCTCCA	0.378													9	50	---	---	---	---	0	0
SRP19	6728	broad.mit.edu	37	5	112198210	112198210	+	Missense_Mutation	SNP	T	T	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:112198210T>C	ENST00000505459.1	+	2	202	c.47T>C	c.(46-48)aTt>aCt	p.I16T	CTC-554D6.1_ENST00000520401.1_Silent_p.Y87Y|CTC-487M23.8_ENST00000506997.1_Missense_Mutation_p.I16T|SRP19_ENST00000282999.3_Missense_Mutation_p.I16T|SRP19_ENST00000515463.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	16					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		GGCAGGTTTATTTGTATCTAT	0.458													5	19	---	---	---	---	0	0
FAT2	2196	broad.mit.edu	37	5	150908872	150908872	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:150908872G>T	ENST00000261800.5	-	14	9905	c.9893C>A	c.(9892-9894)tCc>tAc	p.S3298Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3298	Cadherin 29.|Poly-Ser.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGGAAGAGGAGCTCTTCCG	0.512													39	68	---	---	---	---	0	0
PGBD1	84547	broad.mit.edu	37	6	28269439	28269439	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:28269439G>T	ENST00000405948.2	+	7	2228	c.1808G>T	c.(1807-1809)gGt>gTt	p.G603V	PGBD1_ENST00000259883.3_Missense_Mutation_p.G603V	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	603					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTTGGGTTAGGTGGAAATCTA	0.403													43	76	---	---	---	---	0	0
GPR116	221395	broad.mit.edu	37	6	46826111	46826111	+	Missense_Mutation	SNP	T	T	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:46826111T>A	ENST00000283296.7	-	17	3817	c.3529A>T	c.(3529-3531)Atc>Ttc	p.I1177F	GPR116_ENST00000456426.2_Missense_Mutation_p.I1035F|GPR116_ENST00000362015.4_Missense_Mutation_p.I1177F|GPR116_ENST00000545669.1_Missense_Mutation_p.I606F|GPR116_ENST00000265417.7_Missense_Mutation_p.I1177F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1177					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGTGCTGGGATGGCGAAAGCC	0.547													5	80	---	---	---	---	0	0
TRRAP	8295	broad.mit.edu	37	7	98522824	98522824	+	Silent	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:98522824G>T	ENST00000359863.4	+	22	3122	c.2913G>T	c.(2911-2913)ctG>ctT	p.L971L	TRRAP_ENST00000355540.3_Silent_p.L971L|TRRAP_ENST00000446306.3_Silent_p.L970L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	971					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AATGCTTCCTGGTGGCCATGA	0.562													70	67	---	---	---	---	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621804	99621804	+	Missense_Mutation	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:99621804A>G	ENST00000324306.6	+	3	688	c.454A>G	c.(454-456)Atg>Gtg	p.M152V	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.M116V|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	152					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGACCTGAGATGCTCGCAAG	0.488													4	109	---	---	---	---	0	0
LAMB1	3912	broad.mit.edu	37	7	107642017	107642017	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:107642017C>T	ENST00000393561.1	-	1	455	c.271G>A	c.(271-273)Gtc>Atc	p.V91I	LAMB1_ENST00000393560.1_Missense_Mutation_p.V67I|LAMB1_ENST00000222399.6_Missense_Mutation_p.V67I			P07942	LAMB1_HUMAN	laminin, beta 1	67	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGTGGCTGACGATACAGTAG	0.652													4	28	---	---	---	---	0	0
EXOC4	60412	broad.mit.edu	37	7	133160106	133160106	+	Missense_Mutation	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:133160106A>G	ENST00000253861.4	+	8	1236	c.1207A>G	c.(1207-1209)Atg>Gtg	p.M403V	EXOC4_ENST00000393161.2_Missense_Mutation_p.M403V|EXOC4_ENST00000539845.1_Missense_Mutation_p.M302V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	403					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTACTTGGATATGAAAAATAC	0.358													117	104	---	---	---	---	0	0
GTF2E2	2961	broad.mit.edu	37	8	30472224	30472224	+	Silent	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr8:30472224A>G	ENST00000355904.4	-	4	549	c.267T>C	c.(265-267)caT>caC	p.H89H		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	89					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTCCTCGCTGATGCCGTGTCT	0.358													13	25	---	---	---	---	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767002	77767002	+	Silent	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr8:77767002A>G	ENST00000521891.2	+	10	8293	c.7845A>G	c.(7843-7845)gaA>gaG	p.E2615E	ZFHX4_ENST00000518282.1_Silent_p.E2589E|ZFHX4_ENST00000455469.2_Silent_p.E2570E|ZFHX4_ENST00000050961.6_Silent_p.E2570E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2570						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCACCCCGGAACAGCTGGAAA	0.433										HNSCC(33;0.089)			12	34	---	---	---	---	0	0
NR6A1	2649	broad.mit.edu	37	9	127289153	127289153	+	Missense_Mutation	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr9:127289153A>G	ENST00000487099.2	-	8	1263	c.1106T>C	c.(1105-1107)aTc>aCc	p.I369T	NR6A1_ENST00000373584.3_Missense_Mutation_p.I365T|NR6A1_ENST00000344523.4_Missense_Mutation_p.I368T|NR6A1_ENST00000416460.2_Missense_Mutation_p.I364T	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	369					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GAGCCGCTCGATCACCTCCAT	0.488													19	28	---	---	---	---	0	0
SPAG6	9576	broad.mit.edu	37	10	22634710	22634710	+	Silent	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr10:22634710G>A	ENST00000376603.2	+	2	226	c.84G>A	c.(82-84)gcG>gcA	p.A28A	SPAG6_ENST00000538630.1_5'UTR|SPAG6_ENST00000376601.1_Silent_p.A28A|SPAG6_ENST00000376624.3_Silent_p.A28A|SPAG6_ENST00000313311.6_Silent_p.A28A			O75602	SPAG6_HUMAN	sperm associated antigen 6	28					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CGGAGCTGGCGACTAGACCCC	0.687													4	14	---	---	---	---	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373292	373292	+	Splice_Site	SNP	G	G	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:373292G>C	ENST00000329962.6	+	6	636		c.e6+1			NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4							Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGGCAAGGTACCCCCACC	0.627													6	12	---	---	---	---	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379668	379668	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:379668C>T	ENST00000329962.6	+	15	2455	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	819						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGGCCTGGCGCCAGGACGT	0.687													3	10	---	---	---	---	0	0
TRIM22	10346	broad.mit.edu	37	11	5718478	5718478	+	Splice_Site	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:5718478G>A	ENST00000379965.3	+	3	701	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	142					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TTTCTTACAGGAAAAGCTGCA	0.458											OREG0003730	type=REGULATORY REGION|Gene=TRIM22|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	13	---	---	---	---	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810951	65810951	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:65810951G>T	ENST00000312006.4	-	3	604	c.323C>A	c.(322-324)cCc>cAc	p.P108H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P108H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	108					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GAAGTTGCGGGGGTAGCAGAA	0.692													11	65	---	---	---	---	0	0
P4HA3	283208	broad.mit.edu	37	11	74013632	74013632	+	Missense_Mutation	SNP	T	T	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:74013632T>G	ENST00000331597.4	-	3	394	c.349A>C	c.(349-351)Aag>Cag	p.K117Q	P4HA3_ENST00000427714.2_Missense_Mutation_p.K117Q	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	117						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TAGCCATCCTTCAGAGCTGTA	0.463													5	79	---	---	---	---	0	0
OPCML	4978	broad.mit.edu	37	11	132305999	132305999	+	Missense_Mutation	SNP	A	A	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:132305999A>T	ENST00000331898.7	-	6	1496	c.918T>A	c.(916-918)aaT>aaA	p.N306K	OPCML_ENST00000524381.1_Missense_Mutation_p.N299K|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.N265K|OPCML_ENST00000541867.1_Missense_Mutation_p.N306K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	306	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGATGCTGGCATTGGTGTTCC	0.493													15	16	---	---	---	---	0	0
KIAA1551	55196	broad.mit.edu	37	12	32138464	32138464	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr12:32138464G>T	ENST00000312561.4	+	4	4989	c.4575G>T	c.(4573-4575)caG>caT	p.Q1525H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		ACCATTCTCAGGAGTCTAAAA	0.363													17	27	---	---	---	---	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110456956	110456956	+	Missense_Mutation	SNP	A	A	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr12:110456956A>C	ENST00000261739.4	+	6	723	c.557A>C	c.(556-558)gAg>gCg	p.E186A	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	186										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AACTGGGCGGAGTTAATGGAA	0.423													48	90	---	---	---	---	0	0
ZNF770	54989	broad.mit.edu	37	15	35275466	35275466	+	Missense_Mutation	SNP	C	C	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr15:35275466C>A	ENST00000356321.4	-	3	514	c.170G>T	c.(169-171)tGt>tTt	p.C57F		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ACACACATCACATTCAAATGG	0.358													41	54	---	---	---	---	0	0
CA12	771	broad.mit.edu	37	15	63638797	63638797	+	Missense_Mutation	SNP	G	G	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr15:63638797G>T	ENST00000178638.3	-	3	658	c.218C>A	c.(217-219)cCc>cAc	p.P73H	CA12_ENST00000344366.3_Missense_Mutation_p.P73H|CA12_ENST00000422263.2_Intron	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	73					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GAACTCGAGGGGCGTGAGGCT	0.572													4	55	---	---	---	---	0	0
SPN	0	broad.mit.edu	37	16	29675595	29675595	+	Silent	SNP	C	C	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr16:29675595C>A	ENST00000360121.3	+	2	638	c.546C>A	c.(544-546)acC>acA	p.T182T	SPN_ENST00000395389.2_Silent_p.T182T	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	182					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CCAAAGGCACCTCTGGACCCC	0.592													41	145	---	---	---	---	0	0
MYH8	4626	broad.mit.edu	37	17	10296458	10296458	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:10296458C>T	ENST00000403437.2	-	36	5330	c.5236G>A	c.(5236-5238)Gaa>Aaa	p.E1746K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1746					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGATTACTTCTTCCACTTCA	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				45	184	---	---	---	---	0	0
PLXDC1	57125	broad.mit.edu	37	17	37243903	37243903	+	Silent	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:37243903G>A	ENST00000315392.4	-	8	1075	c.864C>T	c.(862-864)agC>agT	p.S288S	PLXDC1_ENST00000444911.2_Silent_p.S248S|PLXDC1_ENST00000394316.2_Silent_p.S288S|PLXDC1_ENST00000539608.1_Silent_p.S215S|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	288					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGTGACCTTGCTGGGGTCCA	0.557													7	22	---	---	---	---	0	0
ABCA8	10351	broad.mit.edu	37	17	66902187	66902187	+	Missense_Mutation	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:66902187G>A	ENST00000269080.2	-	17	2413	c.2276C>T	c.(2275-2277)tCg>tTg	p.S759L	ABCA8_ENST00000430352.2_Missense_Mutation_p.S799L|ABCA8_ENST00000586539.1_Missense_Mutation_p.S799L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	759						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTATTTACCCGATTCATTAAT	0.328													29	57	---	---	---	---	0	0
APC2	10297	broad.mit.edu	37	19	1465241	1465241	+	Silent	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:1465241C>T	ENST00000535453.1	+	14	3654	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G	APC2_ENST00000233607.2_Silent_p.G647G|APC2_ENST00000238483.4_Silent_p.G373G|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	647					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCGTGCGGCACGCTCTGGA	0.647													4	4	---	---	---	---	0	0
ZNF175	7728	broad.mit.edu	37	19	52090595	52090595	+	Missense_Mutation	SNP	C	C	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:52090595C>G	ENST00000262259.2	+	5	1369	c.1011C>G	c.(1009-1011)tgC>tgG	p.C337W	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	337					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCTGTATATGCAAGGAATGTG	0.408													13	48	---	---	---	---	0	0
ZNF347	84671	broad.mit.edu	37	19	53643640	53643640	+	Missense_Mutation	SNP	C	C	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:53643640C>A	ENST00000452676.2	-	5	2870	c.2444G>T	c.(2443-2445)gGt>gTt	p.G815V	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.G814V|ZNF347_ENST00000601469.2_Missense_Mutation_p.G815V	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGGTTTCCCACCAGTATGGAT	0.418													66	154	---	---	---	---	0	0
ZNF665	79788	broad.mit.edu	37	19	53668835	53668835	+	Nonsense_Mutation	SNP	G	G	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:53668835G>C	ENST00000600412.1	-	2	828	c.713C>G	c.(712-714)tCa>tGa	p.S238*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.S303*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGCAAGGTGTGAATTTTGAGT	0.423													52	179	---	---	---	---	0	0
NCR1	9437	broad.mit.edu	37	19	55418146	55418146	+	Missense_Mutation	SNP	G	G	C			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:55418146G>C	ENST00000594765.1	+	3	361	c.336G>C	c.(334-336)ttG>ttC	p.L112F	NCR1_ENST00000338835.5_Missense_Mutation_p.L112F|NCR1_ENST00000598576.1_Missense_Mutation_p.L100F|NCR1_ENST00000447255.1_Missense_Mutation_p.L112F|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.L112F			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	112	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCAGCAACTTGCTGGATCTGG	0.522													23	93	---	---	---	---	0	0
TRIM28	10155	broad.mit.edu	37	19	59061121	59061121	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:59061121C>T	ENST00000253024.5	+	14	2289	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	TRIM28_ENST00000341753.6_Missense_Mutation_p.S585L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	667					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGGAGCTGCTCACTCTGCCAT	0.592													53	73	---	---	---	---	0	0
GINS1	9837	broad.mit.edu	37	20	25388520	25388520	+	Missense_Mutation	SNP	C	C	T			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr20:25388520C>T	ENST00000262460.4	+	1	158	c.64C>T	c.(64-66)Cct>Tct	p.P22S	GINS1_ENST00000484893.1_3'UTR|GINS1_ENST00000429262.2_Missense_Mutation_p.P22S	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	22					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AGGGCAACTGCCTGCCTTCAA	0.677													7	22	---	---	---	---	0	0
U2AF1	7307	broad.mit.edu	37	21	44514890	44514890	+	Silent	SNP	A	A	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr21:44514890A>G	ENST00000459639.1	-	5	1162	c.138T>C	c.(136-138)cgT>cgC	p.R46R	U2AF1_ENST00000380276.2_Silent_p.R119R|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000291552.4_Silent_p.R119R|U2AF1_ENST00000398137.1_Silent_p.R46R			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	119					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						CATCTTCCTCACGGCGAAACT	0.448			Mis		"""CLL, MDS"""								3	38	---	---	---	---	0	0
C22orf43	51233	broad.mit.edu	37	22	23956371	23956371	+	Missense_Mutation	SNP	C	C	G			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr22:23956371C>G	ENST00000317749.5	-	9	869	c.572G>C	c.(571-573)tGc>tCc	p.C191S		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	191	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCTCAGTGAGCATCTTAAAAA	0.453													19	51	---	---	---	---	0	0
WAS	7454	broad.mit.edu	37	X	48547130	48547130	+	Missense_Mutation	SNP	G	G	A			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chrX:48547130G>A	ENST00000376701.4	+	10	1088	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	338					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AACAAGGGTCGTTCTGGTCCA	0.692			"""Mis, N, F, S"""			lymphoma							8	0	---	---	---	---	0	0
PMF1	11243	broad.mit.edu	37	1	156203419	156203419	+	Splice_Site	SNP	G	G	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:156203419G>T	ENST00000368277.3	+	3	277	c.268G>T	c.(268-270)Gag>Tag	p.E90*	PMF1_ENST00000565805.1_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.E90*|PMF1_ENST00000368273.4_Splice_Site_p.E92*|PMF1_ENST00000368279.3_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.E90*|PMF1_ENST00000567140.1_Splice_Site_p.E90*	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TTCTCTTCAGGAGGAAATCTC	0.443													4	110	---	---	---	---	0	0
CD96	0	broad.mit.edu	37	3	111263902	111263902	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:111263902A>G	ENST00000352690.4	+	2	311	c.71A>G	c.(70-72)gAa>gGa	p.E24G	CD96_ENST00000283285.5_Missense_Mutation_p.E24G|CD96_ENST00000438817.2_Missense_Mutation_p.E24G	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	24					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GGAGTTTGGGAAAAAACAGTC	0.403									Opitz Trigonocephaly syndrome				6	51	---	---	---	---	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546090	112546090	+	Splice_Site	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:112546090T>C	ENST00000488794.1	-	6	957		c.e6-2		CD200R1L_ENST00000448932.1_Splice_Site|CD200R1L_ENST00000398214.1_Splice_Site			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like							integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CGGGTGTAACTGCAGAGAGGA	0.428													10	53	---	---	---	---	0	0
KDM3B	51780	broad.mit.edu	37	5	137763721	137763721	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr5:137763721G>A	ENST00000314358.5	+	20	4899	c.4699G>A	c.(4699-4701)Gtt>Att	p.V1567I	KDM3B_ENST00000394866.1_Missense_Mutation_p.V1223I|KDM3B_ENST00000542866.1_Missense_Mutation_p.V599I	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1567	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTCTGATGCTGTTAATGTGAT	0.433													26	117	---	---	---	---	0	0
DDX41	51428	broad.mit.edu	37	5	176942200	176942200	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr5:176942200C>T	ENST00000507955.1	-	7	1154	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	211					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTGGGGATGCCCTGGATCTGA	0.527													7	72	---	---	---	---	0	0
SMPD2	6610	broad.mit.edu	37	6	109763184	109763184	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:109763184A>T	ENST00000258052.3	+	4	591	c.232A>T	c.(232-234)Att>Ttt	p.I78F		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	78					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CAGCGGAATCATTGGCAGTGG	0.502													28	156	---	---	---	---	0	0
UTRN	7402	broad.mit.edu	37	6	145157448	145157448	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:145157448T>C	ENST00000367545.3	+	70	9836	c.9836T>C	c.(9835-9837)gTg>gCg	p.V3279A	UTRN_ENST00000367526.4_Missense_Mutation_p.V834A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3279					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATCTACAGGTGGAGTATGAG	0.488													26	117	---	---	---	---	0	0
TRIL	9865	broad.mit.edu	37	7	28997483	28997483	+	RNA	SNP	G	G	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr7:28997483G>A	ENST00000322982.3	-	0	451				AC005013.5_ENST00000436594.1_lincRNA			Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										AGGTGAGCACGTCGTGGGGGC	0.652													7	56	---	---	---	---	0	0
NR4A3	0	broad.mit.edu	37	9	102590779	102590779	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr9:102590779C>T	ENST00000330847.1	+	2	532	c.488C>T	c.(487-489)gCg>gTg	p.A163V	NR4A3_ENST00000338488.4_Missense_Mutation_p.A152V|NR4A3_ENST00000395097.2_Missense_Mutation_p.A152V			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	152					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CCCCCGCAGGCGGGGGCGTTA	0.741			T	EWSR1	extraskeletal myxoid chondrosarcoma								4	28	---	---	---	---	0	0
XPOT	11260	broad.mit.edu	37	12	64825398	64825398	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr12:64825398C>A	ENST00000332707.5	+	18	2586	c.2057C>A	c.(2056-2058)aCa>aAa	p.T686K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	686	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGTTTACAGACATTCTTGCCA	0.413													4	51	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419126	105419126	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:105419126C>T	ENST00000333244.5	-	7	2781	c.2662G>A	c.(2662-2664)Gct>Act	p.A888T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	888						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGGTCAGCGGAAGGGGGC	0.647													11	165	---	---	---	---	0	0
HYDIN	54768	broad.mit.edu	37	16	70843713	70843713	+	Silent	SNP	T	T	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr16:70843713T>A	ENST00000393567.2	-	85	15006	c.14856A>T	c.(14854-14856)acA>acT	p.T4952T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4952										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTCTGCCGTGTGTAATTGA	0.507													9	89	---	---	---	---	0	0
SUPT6H	6830	broad.mit.edu	37	17	27011735	27011735	+	Silent	SNP	C	C	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr17:27011735C>A	ENST00000314616.6	+	18	2644	c.2361C>A	c.(2359-2361)tcC>tcA	p.S787S	SUPT6H_ENST00000347486.4_Silent_p.S787S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	787					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTGCTTTCTCCTCTGCCAGGT	0.468													3	36	---	---	---	---	0	0
GMIP	51291	broad.mit.edu	37	19	19745500	19745500	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:19745500C>T	ENST00000203556.4	-	18	2037	c.1900G>A	c.(1900-1902)Gtg>Atg	p.V634M	GMIP_ENST00000445806.2_Missense_Mutation_p.V605M|GMIP_ENST00000586269.1_Intron|GMIP_ENST00000587238.1_Missense_Mutation_p.V608M	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	634	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AAGGGGATCACGGGCTCGGTG	0.667													21	119	---	---	---	---	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767790	31767790	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:31767790T>C	ENST00000240587.4	-	2	3236	c.2909A>G	c.(2908-2910)gAc>gGc	p.D970G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	970					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGGCCAGTGTCCAAGTTTTT	0.522													5	43	---	---	---	---	0	0
ZNF587	84914	broad.mit.edu	37	19	58371137	58371137	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:58371137G>T	ENST00000339656.5	+	3	1539	c.1357G>T	c.(1357-1359)Gtt>Ttt	p.V453F	ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.V452F|ZNF587_ENST00000419854.1_Missense_Mutation_p.V410F|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TCATCTTCTGGTTCATGAGAG	0.433													11	72	---	---	---	---	0	0
CHDC2	286464	broad.mit.edu	37	X	36103579	36103579	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:36103579T>C	ENST00000313548.4	+	5	751	c.565T>C	c.(565-567)Tct>Cct	p.S189P		NM_173695.2	NP_775966.1			calponin homology domain containing 2																		TTCAAGTCAATCTTTACCTGT	0.368													9	19	---	---	---	---	0	0
BRWD3	254065	broad.mit.edu	37	X	79984395	79984395	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:79984395C>A	ENST00000373275.4	-	14	1458	c.1242G>T	c.(1240-1242)ttG>ttT	p.L414F		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	414										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCCAGATGGCAAATTATTGC	0.338													11	42	---	---	---	---	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185975	127185975	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:127185975G>T	ENST00000371124.3	-	1	407	c.211C>A	c.(211-213)Cac>Aac	p.H71N		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	71						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATGGGGTAGTGCAAATGTAGG	0.473													6	60	---	---	---	---	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870216	151870216	+	Silent	SNP	A	A	T			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:151870216A>T	ENST00000329342.5	+	3	1131	c.906A>T	c.(904-906)ccA>ccT	p.P302P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	302	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTACCCACTCCTGCATG	0.567													22	50	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152280684	152280684	+	Silent	SNP	G	G	C			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr1:152280684G>C	ENST00000368799.1	-	3	6713	c.6678C>G	c.(6676-6678)ggC>ggG	p.G2226G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2226	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTCCCTGGCCCACCAGTG	0.562									Ichthyosis				24	121	---	---	---	---	0	0
CCRL2	0	broad.mit.edu	37	3	46450522	46450522	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:46450522C>T	ENST00000399036.3	+	2	1304	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	CCRL2_ENST00000357392.4_Missense_Mutation_p.R330C|CCRL2_ENST00000400882.2_Missense_Mutation_p.R318C|CCRL2_ENST00000400880.3_Missense_Mutation_p.R318C	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2						chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TTTCCATCTGCGTAGTAACAC	0.512													25	77	---	---	---	---	0	0
DPPA2	151871	broad.mit.edu	37	3	109031399	109031399	+	Silent	SNP	G	G	A			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:109031399G>A	ENST00000478945.1	-	3	420	c.174C>T	c.(172-174)taC>taT	p.Y58Y		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	58						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TACCTGGATTGTATTTCTTAG	0.413													12	78	---	---	---	---	0	0
FER	2241	broad.mit.edu	37	5	108382846	108382846	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr5:108382846T>C	ENST00000281092.4	+	16	2255	c.1871T>C	c.(1870-1872)aTa>aCa	p.I624T	FER_ENST00000438717.2_Missense_Mutation_p.I449T	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	624	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTCAAACTTATAGGAGTTTGC	0.313													5	43	---	---	---	---	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145726591	145726591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr8:145726591C>T	ENST00000292539.4	+	10	2034	c.1117C>T	c.(1117-1119)Caa>Taa	p.Q373*	PPP1R16A_ENST00000435887.1_Nonsense_Mutation_p.Q373*			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	373						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CATCGTGTGGCAACAGCCGCC	0.716													3	10	---	---	---	---	0	0
FANCF	2188	broad.mit.edu	37	11	22647295	22647295	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:22647295G>C	ENST00000327470.3	-	1	92	c.62C>G	c.(61-63)aCc>aGc	p.T21S	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	21					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GCTGACGTAGGTAGTGCTTGA	0.637			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	15	---	---	---	---	0	0
PAMR1	25891	broad.mit.edu	37	11	35456159	35456159	+	Silent	SNP	C	C	G			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:35456159C>G	ENST00000378880.2	-	10	1972	c.1527G>C	c.(1525-1527)ctG>ctC	p.L509L	PAMR1_ENST00000378878.3_Silent_p.L398L|PAMR1_ENST00000278360.3_Silent_p.L526L|PAMR1_ENST00000532848.1_Silent_p.L469L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	509	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGACCTTCCCCAGGTCAGTAA	0.557													15	48	---	---	---	---	0	0
FAM181B	220382	broad.mit.edu	37	11	82443541	82443541	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:82443541C>T	ENST00000329203.3	-	1	1365	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	411										large_intestine(1)|lung(2)|prostate(1)	4						CAAACCCCGTCGGATCTCCAA	0.692													3	14	---	---	---	---	0	0
SLC2A13	114134	broad.mit.edu	37	12	40158559	40158559	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:40158559T>C	ENST00000280871.4	-	8	1597	c.1547A>G	c.(1546-1548)tAt>tGt	p.Y516C		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	516						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GAAGACAAGATATAAAATAAG	0.333										HNSCC(50;0.14)			7	38	---	---	---	---	0	0
LRP1	4035	broad.mit.edu	37	12	57593708	57593708	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:57593708G>A	ENST00000243077.3	+	62	10380	c.9914G>A	c.(9913-9915)tGc>tAc	p.C3305Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3305	EGF-like 13.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCAACCTGTGCCTGCTGTCC	0.587													9	48	---	---	---	---	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018420	101018420	+	Silent	SNP	C	C	T			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:101018420C>T	ENST00000537247.1	+	10	2479	c.1525C>T	c.(1525-1527)Ctg>Ttg	p.L509L	GAS2L3_ENST00000539410.1_Silent_p.L613L|GAS2L3_ENST00000547754.1_Silent_p.L613L|GAS2L3_ENST00000266754.5_Silent_p.L613L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	613					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGTACCCCACTGTCCATCGT	0.488													10	35	---	---	---	---	0	0
ALPK3	57538	broad.mit.edu	37	15	85402608	85402608	+	Nonsense_Mutation	SNP	G	G	T	rs142686791		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr15:85402608G>T	ENST00000258888.5	+	7	4725	c.4558G>T	c.(4558-4560)Gag>Tag	p.E1520*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1520	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCAGTGGGCGAGGTGGGCAG	0.552													8	34	---	---	---	---	0	0
HP1BP3	50809	broad.mit.edu	37	1	21083722	21083722	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:21083722C>A	ENST00000375003.2	-	5	1962	c.462G>T	c.(460-462)caG>caT	p.Q154H	HP1BP3_ENST00000312239.5_Missense_Mutation_p.Q306H			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	306					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CTACTGCTCTCTGCAGAGCGT	0.418													3	72	---	---	---	---	0	0
BCAR3	8412	broad.mit.edu	37	1	94032967	94032967	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:94032967G>A	ENST00000370244.1	-	13	2456	c.2168C>T	c.(2167-2169)aCt>aTt	p.T723I	BCAR3_ENST00000539242.1_Missense_Mutation_p.T399I|BCAR3_ENST00000370243.1_Missense_Mutation_p.T723I|BCAR3_ENST00000370247.3_Missense_Mutation_p.T632I|BCAR3_ENST00000260502.6_Missense_Mutation_p.T723I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	723	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCCTTCAAAAGTCACAGCCTG	0.502													27	22	---	---	---	---	0	0
CACNA1D	776	broad.mit.edu	37	3	53785827	53785827	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr3:53785827C>G	ENST00000288139.4	+	29	3746	c.3628C>G	c.(3628-3630)Ccc>Gcc	p.P1210A	CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1190A|CACNA1D_ENST00000540742.1_Missense_Mutation_p.P97A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1190A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAGATACATCCCCAAAAACCC	0.502													5	137	---	---	---	---	0	0
INSIG1	3638	broad.mit.edu	37	7	155094516	155094516	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr7:155094516G>A	ENST00000340368.4	+	5	975	c.764G>A	c.(763-765)gGa>gAa	p.G255E	INSIG1_ENST00000344756.4_Missense_Mutation_p.G103E|INSIG1_ENST00000342407.5_Missense_Mutation_p.E158K	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	255					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTTCTCAGGAGGCGTCACG	0.408													6	96	---	---	---	---	0	0
RGS3	5998	broad.mit.edu	37	9	116356449	116356449	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr9:116356449G>T	ENST00000462403.1	+	1	684	c.250G>T	c.(250-252)Gcc>Tcc	p.A84S	RGS3_ENST00000343817.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTGGCTGCAGCCTGCACCGT	0.677													19	41	---	---	---	---	0	0
ZNF215	7762	broad.mit.edu	37	11	6977301	6977301	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr11:6977301A>C	ENST00000278319.5	+	7	1681	c.1093A>C	c.(1093-1095)Aca>Cca	p.T365P	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.T365P|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	365					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GAGTTTGAGTACAGATATTCG	0.333													22	34	---	---	---	---	0	0
CEP57	9702	broad.mit.edu	37	11	95561040	95561040	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr11:95561040G>T	ENST00000325542.5	+	9	1214	c.976G>T	c.(976-978)Gtc>Ttc	p.V326F	CEP57_ENST00000325486.5_Missense_Mutation_p.V300F|CEP57_ENST00000537677.1_Missense_Mutation_p.V299F|CEP57_ENST00000541150.1_Missense_Mutation_p.V317F	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	326	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATGATCGAGTCATCAACAG	0.443									Mosaic Variegated Aneuploidy Syndrome				26	45	---	---	---	---	0	0
ITPR2	3709	broad.mit.edu	37	12	26780982	26780982	+	Silent	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr12:26780982G>A	ENST00000381340.3	-	23	3464	c.3048C>T	c.(3046-3048)gaC>gaT	p.D1016D	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1016					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTAGTAAAGTGTCTGGAGATC	0.333													81	102	---	---	---	---	0	0
ARMC5	79798	broad.mit.edu	37	16	31476480	31476480	+	Silent	SNP	G	G	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:31476480G>T	ENST00000457010.2	+	4	2837	c.2136G>T	c.(2134-2136)ctG>ctT	p.L712L	ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000538189.1_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	0							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGGCTGGTCTGTGCTTCTTTC	0.622													8	7	---	---	---	---	0	0
CNGB1	1258	broad.mit.edu	37	16	57921842	57921842	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:57921842C>T	ENST00000564448.1	-	32	3421	c.3361G>A	c.(3361-3363)Ggc>Agc	p.G1121S	CNGB1_ENST00000251102.8_Missense_Mutation_p.G1127S			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1127					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCAAGTTTGCCGCCTTTTGCC	0.612													29	50	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7577514	7577514	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:7577514G>A	ENST00000420246.2	-	7	899	c.767C>T	c.(766-768)aCa>aTa	p.T256I	TP53_ENST00000413465.2_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I|TP53_ENST00000269305.4_Missense_Mutation_p.T256I|TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000455263.2_Missense_Mutation_p.T256I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	256	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCTTCCAGTGTGATGATGGT	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	5	---	---	---	---	0	0
SCN4A	6329	broad.mit.edu	37	17	62049712	62049712	+	Splice_Site	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:62049712G>A	ENST00000435607.1	-	2	468	c.392C>T	c.(391-393)gCg>gTg	p.A131V	SCN4A_ENST00000578147.1_Splice_Site_p.A131V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	131					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGCAGGATATGCATGGATGAG	0.617													10	8	---	---	---	---	0	0
CDH20	28316	broad.mit.edu	37	18	59166542	59166542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr18:59166542C>T	ENST00000262717.4	+	3	768	c.370C>T	c.(370-372)Cga>Tga	p.R124*	CDH20_ENST00000536675.2_Nonsense_Mutation_p.R124*|CDH20_ENST00000538374.1_Nonsense_Mutation_p.R124*			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	124	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGGCTCGACCGAGAGGAAAG	0.537													12	13	---	---	---	---	0	0
OR7D2	162998	broad.mit.edu	37	19	9296747	9296747	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr19:9296747G>A	ENST00000344248.2	+	1	469	c.290G>A	c.(289-291)tGc>tAc	p.C97Y		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	97					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TACATGGACTGCCTCACACAG	0.517													6	90	---	---	---	---	0	0
FLRT3	23767	broad.mit.edu	37	20	14307317	14307317	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr20:14307317G>T	ENST00000378053.3	-	2	1092	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S279Y|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	279					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GTTATTATTGGACATATCCAG	0.413													24	34	---	---	---	---	0	0
INPP5B	3633	broad.mit.edu	37	1	38328017	38328017	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:38328017A>C	ENST00000373023.2	-	24	3045	c.2952T>G	c.(2950-2952)ttT>ttG	p.F984L	INPP5B_ENST00000373026.1_Missense_Mutation_p.F984L|INPP5B_ENST00000373024.3_Missense_Mutation_p.F904L|INPP5B_ENST00000373027.1_Missense_Mutation_p.F740L	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	984	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTGGTGAATAAATTCTTGAG	0.458													13	38	---	---	---	---	0	0
CAD	790	broad.mit.edu	37	2	27449052	27449052	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:27449052A>G	ENST00000264705.4	+	13	2058	c.1896A>G	c.(1894-1896)atA>atG	p.I632M	CAD_ENST00000403525.1_Intron	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	632	ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTGAGTCCATAGTGGTGGCCC	0.567													18	29	---	---	---	---	0	0
CD8B	926	broad.mit.edu	37	2	87085245	87085245	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:87085245A>C	ENST00000390655.6	-	2	396	c.338T>G	c.(337-339)aTc>aGc	p.I113S	CD8B_ENST00000393759.2_Missense_Mutation_p.I113S|CD8B_ENST00000393761.2_Missense_Mutation_p.I113S|CD8B_ENST00000349455.3_Missense_Mutation_p.I113S|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.I113S	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	113	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGAAGTAGATGCCACTGTC	0.542													40	33	---	---	---	---	0	0
IL36RN	26525	broad.mit.edu	37	2	113819703	113819703	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:113819703G>C	ENST00000393200.2	+	4	279	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	IL36RN_ENST00000346807.3_Missense_Mutation_p.E40Q	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	40						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCCCACAGGTGAAGAGATCAG	0.632													7	8	---	---	---	---	0	0
CCR2	729230	broad.mit.edu	37	3	46399612	46399612	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:46399612G>C	ENST00000292301.4	+	2	1079	c.594G>C	c.(592-594)tgG>tgC	p.W198C	CCR2_ENST00000445132.2_Missense_Mutation_p.W198C|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Missense_Mutation_p.W198C	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	198					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACGAGGATGGAATAATTTCC	0.463													5	178	---	---	---	---	0	0
SNX4	8723	broad.mit.edu	37	3	125176113	125176113	+	Silent	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:125176113A>G	ENST00000251775.4	-	11	1065	c.1041T>C	c.(1039-1041)acT>acC	p.T347T	SNX4_ENST00000536067.1_Silent_p.T202T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	347					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TACTCACCCCAGTTACCAGTT	0.473													4	57	---	---	---	---	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181641	57181641	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr4:57181641C>A	ENST00000504228.1	+	6	2078	c.1973C>A	c.(1972-1974)tCt>tAt	p.S658Y	KIAA1211_ENST00000264229.6_Missense_Mutation_p.S658Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S651Y			Q6ZU35	K1211_HUMAN	KIAA1211	658										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGCCAGGAGTCTCCCAGCAGC	0.677													5	16	---	---	---	---	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32714045	32714045	+	Silent	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr6:32714045G>A	ENST00000374940.3	+	4	744	c.642G>A	c.(640-642)gaG>gaA	p.E214E		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	214	Connecting peptide.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATGTCAGAGCTCACAGAGA	0.557													23	51	---	---	---	---	0	0
ETV1	2115	broad.mit.edu	37	7	13975392	13975392	+	Silent	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr7:13975392G>A	ENST00000343495.5	-	7	1179	c.441C>T	c.(439-441)ttC>ttT	p.F147F	ETV1_ENST00000403685.1_Silent_p.F147F|ETV1_ENST00000403527.1_Silent_p.F125F|ETV1_ENST00000405192.2_Silent_p.F165F|ETV1_ENST00000405358.4_Silent_p.F179F|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000242066.5_Silent_p.F147F|ETV1_ENST00000405218.2_Silent_p.F165F|ETV1_ENST00000430479.1_Silent_p.F165F|ETV1_ENST00000420159.2_Silent_p.F107F|ETV1_ENST00000476720.2_5'UTR			P50549	ETV1_HUMAN	ets variant 1	165					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGAGCTGGGAAGGCCCGGT	0.552			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								84	70	---	---	---	---	0	0
ESCO2	157570	broad.mit.edu	37	8	27650318	27650318	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr8:27650318C>A	ENST00000305188.8	+	9	1725	c.1487C>A	c.(1486-1488)cCc>cAc	p.P496H	ESCO2_ENST00000397418.2_Missense_Mutation_p.P144H	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	496					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		ATTGCAGAACCCATCAAACAG	0.328									SC Phocomelia syndrome				14	8	---	---	---	---	0	0
PEX2	5828	broad.mit.edu	37	8	77895648	77895648	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr8:77895648G>A	ENST00000419564.2	-	4	1231	c.767C>T	c.(766-768)aCc>aTc	p.T256I	PEX2_ENST00000520103.1_Missense_Mutation_p.T256I|PEX2_ENST00000522527.1_Missense_Mutation_p.T256I|PEX2_ENST00000357039.4_Missense_Mutation_p.T256I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	256					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ACATCCTATGGTGTGAGGCAT	0.433													17	92	---	---	---	---	0	0
ZNF483	158399	broad.mit.edu	37	9	114304902	114304902	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr9:114304902A>T	ENST00000309235.5	+	6	1845	c.1687A>T	c.(1687-1689)Agc>Tgc	p.S563C	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	563					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTTCAGTCATAGCTCATCCCT	0.408													12	54	---	---	---	---	0	0
AP3M1	26985	broad.mit.edu	37	10	75896496	75896496	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:75896496T>G	ENST00000355264.4	-	3	650	c.339A>C	c.(337-339)ttA>ttC	p.L113F	AP3M1_ENST00000372745.1_Missense_Mutation_p.L113F	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	113					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					ACATTTCTTCTAAGAGTTCAT	0.358													10	29	---	---	---	---	0	0
CCDC172	374355	broad.mit.edu	37	10	118117378	118117378	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:118117378G>T	ENST00000333254.3	+	7	832	c.581G>T	c.(580-582)tGt>tTt	p.C194F		NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		GAATCCATTTGTACTACCAAA	0.274													3	22	---	---	---	---	0	0
KNDC1	85442	broad.mit.edu	37	10	135025035	135025035	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:135025035G>T	ENST00000304613.3	+	22	4039	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1342W			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1340	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCGGAACAGCGGGCTGCTGGG	0.667													30	40	---	---	---	---	0	0
PIWIL1	9271	broad.mit.edu	37	12	130841508	130841508	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:130841508G>T	ENST00000245255.3	+	13	1722	c.1450G>T	c.(1450-1452)Ggt>Tgt	p.G484C		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	484					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGAAACAAGAGGTGCACCATT	0.353													6	39	---	---	---	---	0	0
PIWIL1	9271	broad.mit.edu	37	12	130851735	130851735	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:130851735G>C	ENST00000245255.3	+	19	2525	c.2253G>C	c.(2251-2253)caG>caC	p.Q751H	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	751	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTTTTGCTCAGTCTGGAGGAA	0.398													40	46	---	---	---	---	0	0
VRTN	55237	broad.mit.edu	37	14	74824966	74824966	+	Missense_Mutation	SNP	C	C	T	rs144045913		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr14:74824966C>T	ENST00000256362.4	+	2	1721	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	494					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCCGCCCCCGGGGAGCT	0.652													16	39	---	---	---	---	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929536	94929536	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr14:94929536G>T	ENST00000337425.5	-	5	1276	c.1202C>A	c.(1201-1203)tCt>tAt	p.S401Y	SERPINA9_ENST00000424550.2_Missense_Mutation_p.S252Y|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S301Y|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S383Y|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S303Y	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	383					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGTGAAGTAAGAGGGGCCATC	0.488													8	48	---	---	---	---	0	0
SLC12A6	9990	broad.mit.edu	37	15	34527452	34527452	+	Silent	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr15:34527452C>T	ENST00000354181.3	-	25	3783	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	SLC12A6_ENST00000290209.5_Silent_p.K1046K|SLC12A6_ENST00000397707.2_Silent_p.K1082K|SLC12A6_ENST00000397702.2_Silent_p.K1038K|SLC12A6_ENST00000558589.1_Silent_p.K1088K|SLC12A6_ENST00000458406.2_Silent_p.K1038K|SLC12A6_ENST00000560611.1_Silent_p.K1097K|SLC12A6_ENST00000558667.1_Silent_p.K1097K|SLC12A6_ENST00000451844.2_Silent_p.K909K|SLC12A6_ENST00000560164.1_Silent_p.K909K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1097					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTCATGGGACTTGTTAACTA	0.458													9	18	---	---	---	---	0	0
ZNF646	9726	broad.mit.edu	37	16	31090753	31090753	+	Silent	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:31090753C>T	ENST00000394979.2	+	1	3531	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	ZNF646_ENST00000300850.5_Silent_p.L1036L			O15015	ZN646_HUMAN	zinc finger protein 646	1036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGACAGCCTCTGCATCCAGG	0.597													64	52	---	---	---	---	0	0
NOB1	28987	broad.mit.edu	37	16	69786182	69786182	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:69786182A>G	ENST00000268802.5	-	3	318	c.289T>C	c.(289-291)Ttt>Ctt	p.F97L		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	97	PINc.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCCAACAAACTCTGCTTCC	0.433													8	52	---	---	---	---	0	0
MYH1	4619	broad.mit.edu	37	17	10399704	10399704	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:10399704C>A	ENST00000226207.5	-	34	4913	c.4819G>T	c.(4819-4821)Gct>Tct	p.A1607S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1607						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGATCTCAGCATCCAGTGTG	0.463													27	95	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696688	47696688	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:47696688T>G	ENST00000393331.3	-	6	730	c.260A>C	c.(259-261)tAc>tCc	p.Y87S	SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)			45	40	---	---	---	---	0	0
VAV1	7409	broad.mit.edu	37	19	6854100	6854100	+	Silent	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:6854100C>A	ENST00000304076.2	+	25	2503	c.2409C>A	c.(2407-2409)atC>atA	p.I803I	VAV1_ENST00000596764.1_Silent_p.I793I|VAV1_ENST00000602142.1_Silent_p.I825I|VAV1_ENST00000599806.1_Silent_p.I770I|VAV1_ENST00000539284.1_Silent_p.I728I	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	825	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GAGGGGAGATCTATGGCCGGG	0.612													3	40	---	---	---	---	0	0
CLASRP	11129	broad.mit.edu	37	19	45561124	45561124	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:45561124A>C	ENST00000544944.2	+	6	1273	c.581A>C	c.(580-582)aAc>aCc	p.N194T	CLASRP_ENST00000221455.3_Missense_Mutation_p.N194T|CLASRP_ENST00000391953.4_Missense_Mutation_p.N132T			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	194					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GAGGAGAGCAACTCGGACGAA	0.617													12	13	---	---	---	---	0	0
TRPC5	7224	broad.mit.edu	37	X	111095551	111095551	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:111095551G>A	ENST00000262839.2	-	5	2270	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	451					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATCTTCAGGGAAATAGTTGC	0.418													43	7	---	---	---	---	0	0
OCRL	4952	broad.mit.edu	37	X	128679013	128679013	+	Splice_Site	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:128679013A>C	ENST00000371113.4	+	3	363	c.198A>C	c.(196-198)caA>caC	p.Q66H	OCRL_ENST00000357121.5_Splice_Site_p.Q66H|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	66					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GATGTGTTCAAGGTACTAGCT	0.333													23	2	---	---	---	---	0	0
PARS2	25973	broad.mit.edu	37	1	55224300	55224300	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:55224300A>G	ENST00000371279.3	-	2	617	c.535T>C	c.(535-537)Ttc>Ctc	p.F179L		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	179					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TACAGCAGGAAGGGAAGCTGC	0.512													4	91	---	---	---	---	0	0
USP34	9736	broad.mit.edu	37	2	61456734	61456734	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:61456734C>G	ENST00000398571.2	-	59	7224	c.7148G>C	c.(7147-7149)aGg>aCg	p.R2383T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2383					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGGTCTCAGCCTCTGAATCAC	0.388													5	141	---	---	---	---	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514387	113514387	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:113514387G>T	ENST00000541405.1	-	4	589	c.66C>A	c.(64-66)aaC>aaA	p.N22K	CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000302450.6_Missense_Mutation_p.N187K			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	187						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TATCGAGCAAGTTCTCTTTGT	0.323													5	30	---	---	---	---	0	0
EPB41L5	57669	broad.mit.edu	37	2	120847945	120847945	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:120847945T>G	ENST00000263713.5	+	12	1110	c.896T>G	c.(895-897)tTt>tGt	p.F299C	EPB41L5_ENST00000443902.2_Missense_Mutation_p.F299C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.F299C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.F299C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.F299C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	299	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GAACATACATTTGTCTTTAGA	0.383													20	56	---	---	---	---	0	0
FZD7	8324	broad.mit.edu	37	2	202899587	202899587	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:202899587C>G	ENST00000286201.1	+	1	278	c.217C>G	c.(217-219)Cac>Gac	p.H73D		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	73	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCTGCTGGGCCACACGAACCA	0.612													9	23	---	---	---	---	0	0
LRRN1	57633	broad.mit.edu	37	3	3887996	3887996	+	Silent	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr3:3887996G>T	ENST00000319331.3	+	2	2432	c.1671G>T	c.(1669-1671)tcG>tcT	p.S557S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	557	Fibronectin type-III.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TAAAATGGTCGTCTGCCACCA	0.443													9	191	---	---	---	---	0	0
APBB2	323	broad.mit.edu	37	4	40829194	40829194	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr4:40829194A>G	ENST00000295974.8	-	14	2313	c.1684T>C	c.(1684-1686)Tcc>Ccc	p.S562P	APBB2_ENST00000513140.1_Missense_Mutation_p.S541P|APBB2_ENST00000506352.1_Missense_Mutation_p.S541P|APBB2_ENST00000543538.1_Missense_Mutation_p.S14P|APBB2_ENST00000508593.1_Missense_Mutation_p.S563P|APBB2_ENST00000504305.1_Missense_Mutation_p.S14P|APBB2_ENST00000502841.1_Missense_Mutation_p.S14P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	562	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TCCTGTAAGGAGCTGCAGGCC	0.532													7	84	---	---	---	---	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217407	26217407	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr6:26217407A>C	ENST00000303910.2	+	1	243	c.205A>C	c.(205-207)Aac>Cac	p.N69H		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	69					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GCTAGCTGGCAACGCGGCTCG	0.602													5	32	---	---	---	---	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99217321	99217321	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr7:99217321G>C	ENST00000394152.2	+	4	419	c.92G>C	c.(91-93)aGa>aCa	p.R31T	ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R31T|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R31T|ZSCAN25_ENST00000466948.1_3'UTR	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		CCATGGGGCAGAGGAAGGGAG	0.557													7	167	---	---	---	---	0	0
ADRA1A	148	broad.mit.edu	37	8	26623613	26623613	+	Silent	SNP	A	A	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr8:26623613A>G	ENST00000354550.4	-	3	1522	c.1323T>C	c.(1321-1323)caT>caC	p.H441H	ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380581.2_Intron	NM_033304.2	NP_150647.2	P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	0					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TAAAATTCACATGCTTGATAT	0.443													14	61	---	---	---	---	0	0
OC90	729330	broad.mit.edu	37	8	133053367	133053367	+	Silent	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr8:133053367G>A	ENST00000262283.5	-	9	1068	c.969C>T	c.(967-969)gcC>gcT	p.A323A	OC90_ENST00000443356.2_Silent_p.A127A|OC90_ENST00000603859.1_Silent_p.A127A|OC90_ENST00000254627.3_Silent_p.A127A			Q02509	OC90_HUMAN	otoconin 90	127	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.A133A(1)|p.A323A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCATCTCAGCGGCCTCCTCAT	0.577													14	87	---	---	---	---	0	0
CYP2C19	1557	broad.mit.edu	37	10	96580307	96580307	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr10:96580307G>A	ENST00000371321.3	+	6	956	c.874G>A	c.(874-876)Gct>Act	p.A292T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	292					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.A292P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AATCACTGCAGCTGACTTACT	0.418													5	80	---	---	---	---	0	0
C11orf42	160298	broad.mit.edu	37	11	6231080	6231080	+	Splice_Site	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:6231080G>A	ENST00000316375.2	+	2	123	c.73G>A	c.(73-75)Gtc>Atc	p.V25I		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	25										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCTGCAGGTCATCGAGGA	0.507													5	68	---	---	---	---	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956163	18956163	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:18956163G>A	ENST00000302797.3	-	1	393	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	57					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGTTCCTGCGCATGCGGCAG	0.557													4	150	---	---	---	---	0	0
BDNF	627	broad.mit.edu	37	11	27679584	27679584	+	Silent	SNP	T	T	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:27679584T>C	ENST00000525528.1	-	1	1621	c.528A>G	c.(526-528)caA>caG	p.Q176Q	BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395983.3_Silent_p.Q176Q|BDNF_ENST00000314915.6_Silent_p.Q184Q|BDNF_ENST00000439476.2_Silent_p.Q176Q|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395978.3_Silent_p.Q176Q|BDNF_ENST00000420794.1_Silent_p.Q176Q|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395986.2_Silent_p.Q191Q|BDNF_ENST00000532997.1_Silent_p.Q176Q|BDNF_ENST00000533246.1_Silent_p.Q176Q|BDNF_ENST00000356660.4_Silent_p.Q176Q|BDNF_ENST00000395980.2_Silent_p.Q176Q|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000418212.1_Silent_p.Q176Q|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000525950.1_Silent_p.Q176Q|BDNF_ENST00000395981.3_Silent_p.Q176Q|BDNF_ENST00000530861.1_Silent_p.Q176Q|BDNF_ENST00000438929.1_Silent_p.Q258Q|BDNF_ENST00000533131.1_Silent_p.Q176Q|BDNF-AS_ENST00000532965.1_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	176						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						ATTGCTTCAGTTGGCCTTTTG	0.502													11	115	---	---	---	---	0	0
STT3A	3703	broad.mit.edu	37	11	125483004	125483004	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:125483004G>T	ENST00000392708.4	+	13	1645	c.1486G>T	c.(1486-1488)Gat>Tat	p.D496Y	STT3A_ENST00000529196.1_Missense_Mutation_p.D496Y|STT3A_ENST00000531491.1_Missense_Mutation_p.D404Y	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	496					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CCGTGGTGGGGATGGCAGTAG	0.483													7	73	---	---	---	---	0	0
COMMD6	170622	broad.mit.edu	37	13	76104276	76104276	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr13:76104276A>G	ENST00000377615.3	-	4	345	c.181T>C	c.(181-183)Ttt>Ctt	p.F61L	COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000377619.5_Missense_Mutation_p.F76L|COMMD6_ENST00000406936.3_Missense_Mutation_p.F61L|COMMD6_ENST00000355801.4_Missense_Mutation_p.F61L			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	61	COMM.					cytoplasm|nucleus	protein binding			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		GTCATTTCAAAGCACTTGGTC	0.378													4	77	---	---	---	---	0	0
REC8	9985	broad.mit.edu	37	14	24642195	24642195	+	Silent	SNP	C	C	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:24642195C>T	ENST00000311457.3	+	4	812	c.213C>T	c.(211-213)gcC>gcT	p.A71A	REC8_ENST00000559919.1_Silent_p.A71A			O95072	REC8_HUMAN	REC8 meiotic recombination protein	71					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		ATCTCTCAGCCCAACTTCAGA	0.602													6	36	---	---	---	---	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054926	72054926	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:72054926A>T	ENST00000555818.1	+	2	685	c.337A>T	c.(337-339)Agc>Tgc	p.S113C	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S113C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S113C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	113	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCCTCCAAAAGCAGTCCTGT	0.453													7	84	---	---	---	---	0	0
NRXN3	9369	broad.mit.edu	37	14	79181239	79181239	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:79181239G>T	ENST00000554719.1	+	5	1173	c.682G>T	c.(682-684)Gcc>Tcc	p.A228S	NRXN3_ENST00000335750.5_Missense_Mutation_p.A228S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTGTGGACTGCCATGCTCAA	0.592													3	37	---	---	---	---	0	0
NEDD4	4734	broad.mit.edu	37	15	56126282	56126282	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr15:56126282T>C	ENST00000508342.1	-	22	3940	c.3641A>G	c.(3640-3642)aAa>aGa	p.K1214R	NEDD4_ENST00000338963.2_Missense_Mutation_p.K1142R|NEDD4_ENST00000435532.3_Missense_Mutation_p.K795R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K1198R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1214	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTAGCCATTTTTATACTTTGT	0.308													13	59	---	---	---	---	0	0
IGF1R	3480	broad.mit.edu	37	15	99467806	99467806	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr15:99467806A>C	ENST00000268035.6	+	13	3286	c.2675A>C	c.(2674-2676)aAg>aCg	p.K892T	IGF1R_ENST00000558762.1_Missense_Mutation_p.K892T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	892	Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGAGGGGCCAAGCTAAACCGG	0.498													22	64	---	---	---	---	0	0
ZNF516	9658	broad.mit.edu	37	18	74091976	74091976	+	Silent	SNP	T	T	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr18:74091976T>A	ENST00000443185.2	-	4	2411	c.2094A>T	c.(2092-2094)ggA>ggT	p.G698G	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCTCCGCTCCCGTACTGG	0.587													6	36	---	---	---	---	0	0
ZNF563	147837	broad.mit.edu	37	19	12430555	12430555	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:12430555C>A	ENST00000293725.5	-	4	489	c.284G>T	c.(283-285)aGc>aTc	p.S95I	ZNF563_ENST00000595977.1_Missense_Mutation_p.S95I	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	95	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGACAAATGCTGTTGTTCAC	0.398													4	129	---	---	---	---	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918364	51918364	+	Splice_Site	SNP	T	T	G			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:51918364T>G	ENST00000356298.5	-	8	1447		c.e8-2		SIGLEC10_ENST00000339313.5_Splice_Site|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Splice_Site|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000442846.3_Intron	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10						cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCGGGGAGTCTGAGGGGAGGG	0.682													3	14	---	---	---	---	0	0
TRIM28	10155	broad.mit.edu	37	19	59060745	59060745	+	Silent	SNP	G	G	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:59060745G>A	ENST00000253024.5	+	13	1999	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E	TRIM28_ENST00000341753.6_Silent_p.E488E	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	570					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGCCACTGAGGGCCCTGAGA	0.637													33	76	---	---	---	---	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525129	42525129	+	Silent	SNP	G	G	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr22:42525129G>T	ENST00000360608.5	-	3	525	c.411C>A	c.(409-411)tcC>tcA	p.S137S	CYP2D6_ENST00000389970.3_Silent_p.S137S|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	137							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCGCAAGGTGGAGACGGAGA	0.687													3	33	---	---	---	---	0	0
MXRA5	25878	broad.mit.edu	37	X	3240572	3240572	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrX:3240572C>T	ENST00000217939.6	-	5	3308	c.3154G>A	c.(3154-3156)Gac>Aac	p.D1052N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1052						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTAAGGTGTCTTGAGTGCTT	0.458													6	33	---	---	---	---	0	0
MAP7D3	79649	broad.mit.edu	37	X	135314095	135314095	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrX:135314095C>A	ENST00000316077.9	-	8	1241	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	MAP7D3_ENST00000370663.5_Missense_Mutation_p.V323L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.V306L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	341						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCCACGCTCACCACAGGGAAT	0.572													8	35	---	---	---	---	0	0
AMPD1	270	broad.mit.edu	37	1	115222328	115222328	+	Splice_Site	SNP	T	T	C			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:115222328T>C	ENST00000369538.3	-	6	903	c.856A>G	c.(856-858)Aag>Gag	p.K286E	AMPD1_ENST00000520113.2_Splice_Site_p.K290E|AMPD1_ENST00000353928.6_Splice_Site_p.K257E	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	257					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GTATAGGTCTTACTGTGAAAA	0.398													32	64	---	---	---	---	0	0
RUSC1	23623	broad.mit.edu	37	1	155296881	155296881	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:155296881C>T	ENST00000368352.5	+	8	2523	c.2372C>T	c.(2371-2373)cCt>cTt	p.P791L	RUSC1_ENST00000368349.4_Missense_Mutation_p.P322L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.P381L|RUSC1_ENST00000292254.4_Missense_Mutation_p.P322L|RUSC1_ENST00000368354.3_Missense_Mutation_p.P685L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	791						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TTTGGAGTGCCTGGGGGCCCC	0.562													20	41	---	---	---	---	0	0
ARF1	375	broad.mit.edu	37	1	228284842	228284842	+	Silent	SNP	C	C	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:228284842C>T	ENST00000541182.1	+	2	289	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ARF1_ENST00000272102.5_Silent_p.F9F|ARF1_ENST00000540651.1_Silent_p.F9F|ARF1_ENST00000478424.1_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	9					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCAACCTCTTCAAGGGCCTTT	0.542													28	68	---	---	---	---	0	0
GALNT14	79623	broad.mit.edu	37	2	31155004	31155004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr2:31155004G>A	ENST00000349752.5	-	10	1627	c.988C>T	c.(988-990)Cga>Tga	p.R330*	GALNT14_ENST00000324589.5_Nonsense_Mutation_p.R335*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.R295*|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.R297*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.R310*|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	330	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCCCCACTCGGCTGCAGGGG	0.577													20	38	---	---	---	---	0	0
LOXL3	84695	broad.mit.edu	37	2	74762802	74762802	+	Silent	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr2:74762802G>A	ENST00000264094.3	-	8	1400	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	LOXL3_ENST00000409986.1_Silent_p.G298G|LOXL3_ENST00000393937.2_Silent_p.G298G|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	443	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CACAGATGAGGCCCCAGCGAA	0.642													45	54	---	---	---	---	0	0
FANCD2	2177	broad.mit.edu	37	3	10128872	10128872	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:10128872T>A	ENST00000287647.3	+	34	3483	c.3390T>A	c.(3388-3390)tgT>tgA	p.C1130*	FANCD2_ENST00000383807.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000419585.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.C1130*	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1130					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTTTCCAGTGTGCTCTTTATC	0.378			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	56	---	---	---	---	0	0
CCDC36	339834	broad.mit.edu	37	3	49294572	49294572	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:49294572T>C	ENST00000438782.1	+	8	1878	c.1642T>C	c.(1642-1644)Tcc>Ccc	p.S548P	CCDC36_ENST00000296449.5_Missense_Mutation_p.S548P|CCDC36_ENST00000452691.2_Missense_Mutation_p.S548P			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	548										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CTGGCTACTTTCCAGCAGTTC	0.522													26	42	---	---	---	---	0	0
LTC4S	4056	broad.mit.edu	37	5	179221091	179221091	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr5:179221091G>A	ENST00000292596.10	+	1	105	c.10G>A	c.(10-12)Gag>Aag	p.E4K	MAML1_ENST00000503050.1_3'UTR|LTC4S_ENST00000401985.3_Missense_Mutation_p.E4K	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	leukotriene C4 synthase	4					hormone biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|prostanoid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear outer membrane	enzyme activator activity|glutathione peroxidase activity|leukotriene-C4 synthase activity|lipid binding			haematopoietic_and_lymphoid_tissue(1)	1	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Glutathione(DB00143)	CATGAAGGACGAGGTAGCTCT	0.617													9	28	---	---	---	---	0	0
TNXB	7148	broad.mit.edu	37	6	32017326	32017326	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:32017326C>A	ENST00000375244.3	-	28	9679	c.9478G>T	c.(9478-9480)Gcc>Tcc	p.A3160S	TNXB_ENST00000375247.2_Missense_Mutation_p.A3158S			P22105	TENX_HUMAN	tenascin XB	3205	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCTCCGGGGCCTCAGTGCTG	0.657													10	30	---	---	---	---	0	0
MANEA	79694	broad.mit.edu	37	6	96054103	96054103	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:96054103A>G	ENST00000358812.4	+	5	1345	c.1211A>G	c.(1210-1212)gAg>gGg	p.E404G		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	404	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TCTTTTAATGAGTGGCATGAA	0.418													15	33	---	---	---	---	0	0
CTAGE9	643854	broad.mit.edu	37	6	132032076	132032076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:132032076C>A	ENST00000314099.8	-	1	130	c.82G>T	c.(82-84)Gag>Tag	p.E28*	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	28						integral to membrane				endometrium(1)|lung(1)	2						CTCATACTCTCAGGTAGTGCT	0.522													16	41	---	---	---	---	0	0
C7orf60	154743	broad.mit.edu	37	7	112462373	112462373	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr7:112462373G>A	ENST00000297145.4	-	5	809	c.644C>T	c.(643-645)gCa>gTa	p.A215V		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	215										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AGCATCCTGTGCAAGCTGGAG	0.388													20	31	---	---	---	---	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14995921	14995921	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr10:14995921A>G	ENST00000378289.4	-	1	510	c.89T>C	c.(88-90)tTc>tCc	p.F30S	DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.F30S|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378249.1_5'UTR			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	30					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GTGGGACAGGAAGTAGGCGCG	0.652								Non-homologous end-joining					11	29	---	---	---	---	0	0
CD81	975	broad.mit.edu	37	11	2416275	2416275	+	Splice_Site	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:2416275A>G	ENST00000263645.5	+	4	609	c.353A>G	c.(352-354)cAg>cGg	p.Q118R	CD81_ENST00000526072.1_Splice_Site_p.Q47R|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_Splice_Site_p.Q47R|CD81_ENST00000381036.3_Splice_Site_p.Q156R|CD81_ENST00000481687.1_Splice_Site_p.Q124R	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	118					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		AACAAGGACCAGGTGAGCCTG	0.662													3	40	---	---	---	---	0	0
SBF2	81846	broad.mit.edu	37	11	9838385	9838385	+	Splice_Site	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:9838385A>G	ENST00000256190.8	-	29	4116		c.e29+1			NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2						myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAGAAATCTTACCCTTAGTTG	0.403													14	34	---	---	---	---	0	0
RAG1	5896	broad.mit.edu	37	11	36595191	36595191	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:36595191A>G	ENST00000299440.5	+	2	449	c.337A>G	c.(337-339)Atc>Gtc	p.I113V		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	113	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCTCTGCCGCATCTGTGGGAA	0.443									Familial Hemophagocytic Lymphohistiocytosis				29	37	---	---	---	---	0	0
CACNA1C	775	broad.mit.edu	37	12	2622020	2622020	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr12:2622020T>A	ENST00000399655.1	+	9	1525	c.1260T>A	c.(1258-1260)gaT>gaA	p.D420E	CACNA1C_ENST00000399606.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D420E|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D420E|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D420E|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D420E	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	420					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCCGGGGAGATTTCCAGAAGC	0.567													3	14	---	---	---	---	0	0
CHTF18	63922	broad.mit.edu	37	16	844192	844192	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr16:844192G>T	ENST00000317063.6	+	17	2568	c.2568G>T	c.(2566-2568)aaG>aaT	p.K856N	CHTF18_ENST00000455171.2_Missense_Mutation_p.K675N|CHTF18_ENST00000262315.9_Missense_Mutation_p.K647N			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	647					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				AGCACGAGAAGGTGGTCCAGG	0.682													10	24	---	---	---	---	0	0
SRCAP	10847	broad.mit.edu	37	16	30722964	30722964	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr16:30722964A>G	ENST00000262518.4	+	11	1776	c.1391A>G	c.(1390-1392)gAt>gGt	p.D464G	SRCAP_ENST00000344771.4_Missense_Mutation_p.D464G|SRCAP_ENST00000395059.2_Missense_Mutation_p.D464G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	464	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCAGTGAAGATGAGGATGAA	0.517													21	68	---	---	---	---	0	0
CCL14	6358	broad.mit.edu	37	17	34324881	34324881	+	Translation_Start_Site	SNP	C	C	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr17:34324881C>A	ENST00000536149.1	-	0	832				CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.K88N|CCL15_ENST00000354059.4_Missense_Mutation_p.K88N			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14						cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGCCGCCCCTTCTTGGTGA	0.507													13	32	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696689	47696689	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr17:47696689A>T	ENST00000393331.3	-	6	729	c.259T>A	c.(259-261)Tac>Aac	p.Y87N	SPOP_ENST00000393328.2_Missense_Mutation_p.Y87N|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.Y87N(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGTAACAGGTAAAGTGACAGG	0.403										Prostate(2;0.17)			20	55	---	---	---	---	0	0
USHBP1	83878	broad.mit.edu	37	19	17374839	17374839	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:17374839C>A	ENST00000252597.3	-	3	348	c.175G>T	c.(175-177)Gag>Tag	p.E59*	USHBP1_ENST00000598570.1_Intron|USHBP1_ENST00000431146.2_Intron	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	59							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCACTGACCTCCTCCATGGGG	0.617													3	14	---	---	---	---	0	0
SLC27A5	10998	broad.mit.edu	37	19	59012735	59012735	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:59012735A>T	ENST00000263093.2	-	4	1209	c.1100T>A	c.(1099-1101)tTc>tAc	p.F367Y	SLC27A5_ENST00000601355.1_Missense_Mutation_p.F283Y	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	367					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTCATCCCAGAAGCAGGAAGT	0.532													22	49	---	---	---	---	0	0
DIP2A	23181	broad.mit.edu	37	21	47987298	47987298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr21:47987298G>A	ENST00000318711.7	+	38	4665	c.4482G>A	c.(4480-4482)tgG>tgA	p.W1494*	DIP2A_ENST00000400274.1_Nonsense_Mutation_p.W1489*|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.W1493*|DIP2A_ENST00000479654.1_3'UTR	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1493					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TATTCACCTGGACCAACCTGC	0.592													18	79	---	---	---	---	0	0
MID1	0	broad.mit.edu	37	X	10417583	10417583	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chrX:10417583T>C	ENST00000317552.4	-	10	2229	c.1829A>G	c.(1828-1830)tAt>tGt	p.Y610C	MID1_ENST00000453318.2_Missense_Mutation_p.Y610C|MID1_ENST00000380780.1_Missense_Mutation_p.Y610C|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.Y610C|MID1_ENST00000380785.1_Missense_Mutation_p.Y610C|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.Y610C	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	610	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCGTTATCATAGTCCAGCAG	0.557													29	15	---	---	---	---	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593232	135593232	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chrX:135593232G>A	ENST00000535601.1	+	10	1750	c.1328G>A	c.(1327-1329)gGt>gAt	p.G443D	HTATSF1_ENST00000218364.4_Missense_Mutation_p.G443D	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	443	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TTTGAAGAAGGTGCTTCTGAA	0.428													3	53	---	---	---	---	0	0
ATF2	1386	broad.mit.edu	37	2	175962238	175962238	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:175962238C>A	ENST00000264110.2	-	11	1210	c.912G>T	c.(910-912)agG>agT	p.R304S	ATF2_ENST00000409437.1_Missense_Mutation_p.R188S|ATF2_ENST00000426833.3_Missense_Mutation_p.R286S|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Missense_Mutation_p.R246S|ATF2_ENST00000392544.1_Missense_Mutation_p.R304S|ATF2_ENST00000538946.1_Missense_Mutation_p.R286S|ATF2_ENST00000409635.1_Missense_Mutation_p.R246S|ATF2_ENST00000392543.2_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	304					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CTGACTGAGTCCTAACCAATC	0.453													44	52	---	---	---	---	0	0
ITGA4	3676	broad.mit.edu	37	2	182339937	182339937	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:182339937C>A	ENST00000397033.2	+	4	908	c.478C>A	c.(478-480)Ctc>Atc	p.L160I	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.L160I	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	160					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGAAAATAAGCTCCCCACTGG	0.383													41	52	---	---	---	---	0	0
DOCK10	55619	broad.mit.edu	37	2	225698898	225698898	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:225698898T>A	ENST00000409592.3	-	26	3028	c.2915A>T	c.(2914-2916)aAt>aTt	p.N972I	DOCK10_ENST00000258390.7_Missense_Mutation_p.N978I			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	978							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGTTGAGTCATTTGATTTCAA	0.403													33	35	---	---	---	---	0	0
SLC34A2	10568	broad.mit.edu	37	4	25673235	25673235	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr4:25673235G>A	ENST00000382051.3	+	9	990	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	SLC34A2_ENST00000503434.1_Missense_Mutation_p.V313I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V313I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	314					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCAGATTAACGTCACTGTTCC	0.522			T	ROS1	NSCLC								79	94	---	---	---	---	0	0
ANKHD1	54882	broad.mit.edu	37	5	139907827	139907827	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr5:139907827C>A	ENST00000297183.6	+	29	5420	c.5296C>A	c.(5296-5298)Cct>Act	p.P1766T	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1766T|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P149T|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1766T	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCAAGATCCTGCTAAGGA	0.383													28	39	---	---	---	---	0	0
RUFY2	55680	broad.mit.edu	37	10	70105526	70105526	+	Nonstop_Mutation	SNP	C	C	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:70105526C>A	ENST00000388768.2	-	18	2251	c.1925G>T	c.(1924-1926)tGa>tTa	p.*642L	RUFY2_ENST00000602465.1_Nonstop_Mutation_p.*607L|RUFY2_ENST00000265865.3_Nonstop_Mutation_p.*197L	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	0						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TCTGGAGTCTCAGGGCAAGTT	0.423													24	37	---	---	---	---	0	0
ZRANB1	54764	broad.mit.edu	37	10	126662251	126662251	+	Silent	SNP	A	A	G			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:126662251A>G	ENST00000359653.4	+	4	1565	c.1194A>G	c.(1192-1194)ttA>ttG	p.L398L		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	398	TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AAGAAAAATTATTTGATGAGG	0.303													4	207	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108218045	108218045	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr11:108218045A>G	ENST00000278616.4	+	59	9009	c.8624A>G	c.(8623-8625)aAt>aGt	p.N2875S	ATM_ENST00000452508.2_Missense_Mutation_p.N2875S|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2875	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.N2875T(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CATGTACAGAATATCTTGATA	0.303			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			61	5	---	---	---	---	0	0
VPS11	55823	broad.mit.edu	37	11	118949846	118949846	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr11:118949846G>T	ENST00000300793.6	+	15	2313	c.2271G>T	c.(2269-2271)caG>caT	p.Q757H	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	758					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CAGTGGTGCAGACCCTGGCCC	0.552													21	4	---	---	---	---	0	0
SLC35F4	341880	broad.mit.edu	37	14	58030926	58030926	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr14:58030926T>A	ENST00000556826.1	-	8	1621	c.1385A>T	c.(1384-1386)gAt>gTt	p.D462V	SLC35F4_ENST00000554729.1_Missense_Mutation_p.D339V|SLC35F4_ENST00000339762.6_Missense_Mutation_p.D498V	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCAGTCACATCATCCACATG	0.498													6	8	---	---	---	---	0	0
ATP10A	57194	broad.mit.edu	37	15	25959331	25959331	+	Silent	SNP	T	T	G			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:25959331T>G	ENST00000356865.6	-	10	1945	c.1834A>C	c.(1834-1836)Agg>Cgg	p.R612R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	612					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGTGTGAACCTCCGCAGGAAG	0.597													20	24	---	---	---	---	0	0
SQRDL	58472	broad.mit.edu	37	15	45968418	45968418	+	Silent	SNP	C	C	T			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:45968418C>T	ENST00000260324.7	+	6	1160	c.774C>T	c.(772-774)aaC>aaT	p.N258N	SQRDL_ENST00000568606.1_Silent_p.N258N|RP11-96O20.4_ENST00000564080.1_Silent_p.N258N	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	258							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCACTGTTAACTACAAGAAAA	0.458													49	65	---	---	---	---	0	0
ONECUT1	3175	broad.mit.edu	37	15	53080999	53080999	+	Silent	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:53080999G>A	ENST00000305901.5	-	1	1210	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	361					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GCGCGGACATGCGCTGGAACT	0.637													27	18	---	---	---	---	0	0
CLEC16A	23274	broad.mit.edu	37	16	11051757	11051757	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr16:11051757T>G	ENST00000409790.1	+	2	429	c.199T>G	c.(199-201)Tct>Gct	p.S67A	CLEC16A_ENST00000409552.3_Missense_Mutation_p.S67A	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	67										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAATGACAGCTCTGTATTTGA	0.403													4	83	---	---	---	---	0	0
MYH4	4622	broad.mit.edu	37	17	10356590	10356590	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:10356590G>A	ENST00000255381.2	-	24	3100	c.2990C>T	c.(2989-2991)aCc>aTc	p.T997I	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	997					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCTCCTTGGTCAGCTTAGC	0.478													8	181	---	---	---	---	0	0
FAM27L	284123	broad.mit.edu	37	17	21825425	21825425	+	RNA	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:21825425G>A	ENST00000426869.3	+	0	129					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		tcggggctccgaggctccggc	0.622													7	12	---	---	---	---	0	0
NLK	51701	broad.mit.edu	37	17	26488195	26488195	+	Silent	SNP	C	C	T			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:26488195C>T	ENST00000407008.3	+	4	1372	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	218	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GATATGTTGTCACAGAATTGA	0.393													10	34	---	---	---	---	0	0
RHOT1	55288	broad.mit.edu	37	17	30529851	30529851	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:30529851A>G	ENST00000358365.3	+	15	1491	c.1264A>G	c.(1264-1266)Aat>Gat	p.N422D	RHOT1_ENST00000333942.6_Missense_Mutation_p.N422D|RHOT1_ENST00000545287.2_Missense_Mutation_p.N422D|RHOT1_ENST00000394692.2_Missense_Mutation_p.N422D|RHOT1_ENST00000583994.1_Missense_Mutation_p.N295D|RHOT1_ENST00000354266.3_Missense_Mutation_p.N401D|RHOT1_ENST00000581094.1_Missense_Mutation_p.N422D	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	422	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GTTCAGATGTAATGTAATTGG	0.313													20	24	---	---	---	---	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902803	4902803	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:4902803G>A	ENST00000381781.2	-	1	76	c.77C>T	c.(76-78)cCc>cTc	p.P26L		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	26					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TCTATCCTCGGGCAGCACTAA	0.552													38	54	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9064067	9064067	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:9064067G>C	ENST00000397910.4	-	3	23582	c.23379C>G	c.(23377-23379)gaC>gaG	p.D7793E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7795	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGAGATGAGTCAGCTAGGA	0.502													4	196	---	---	---	---	0	0
EMR2	30817	broad.mit.edu	37	19	14875289	14875289	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:14875289T>A	ENST00000315576.3	-	11	1491	c.1040A>T	c.(1039-1041)aAc>aTc	p.N347I	EMR2_ENST00000601345.1_Missense_Mutation_p.N347I|EMR2_ENST00000596991.2_Missense_Mutation_p.N347I|EMR2_ENST00000353876.1_Missense_Mutation_p.N254I|EMR2_ENST00000594294.1_Missense_Mutation_p.N298I|EMR2_ENST00000392967.2_Missense_Mutation_p.N347I|EMR2_ENST00000392964.3_Missense_Mutation_p.N86I|EMR2_ENST00000392965.3_Missense_Mutation_p.N347I|EMR2_ENST00000346057.1_Missense_Mutation_p.N298I|EMR2_ENST00000594076.1_Missense_Mutation_p.N254I|EMR2_ENST00000353005.1_Missense_Mutation_p.N205I|EMR2_ENST00000595839.1_Missense_Mutation_p.N205I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	347					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						ATTGGAAAGGTTCTTGCTCAG	0.587													13	12	---	---	---	---	0	0
CHMP4B	128866	broad.mit.edu	37	20	32441333	32441333	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr20:32441333G>C	ENST00000217402.2	+	5	807	c.642G>C	c.(640-642)atG>atC	p.M214I		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	214					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						ACGACGACATGAAGGAATTGG	0.557													15	11	---	---	---	---	0	0
FLG2	388698	broad.mit.edu	37	1	152323407	152323407	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152323407C>A	ENST00000388718.5	-	3	6927	c.6855G>T	c.(6853-6855)caG>caT	p.Q2285H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2285							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGATCCTGGCTGTCTTTGTT	0.507													64	87	---	---	---	---	0	0
FLG2	388698	broad.mit.edu	37	1	152327428	152327428	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152327428G>T	ENST00000388718.5	-	3	2906	c.2834C>A	c.(2833-2835)aCt>aAt	p.T945N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	945	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATCCAAAAGTCTGTCCTGA	0.493													5	250	---	---	---	---	0	0
LCE2A	353139	broad.mit.edu	37	1	152671573	152671573	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152671573G>A	ENST00000368779.1	+	2	247	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	66	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGGGTGGCGGCTGCTGCCT	0.687													5	80	---	---	---	---	0	0
HEATR5B	54497	broad.mit.edu	37	2	37284597	37284597	+	Silent	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:37284597G>A	ENST00000233099.5	-	15	2181	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	HEATR5B_ENST00000354531.2_Silent_p.L696L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	696							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCCGCTACCAGTTCTCTAAGA	0.368													15	27	---	---	---	---	0	0
AAMP	14	broad.mit.edu	37	2	219129773	219129773	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:219129773G>A	ENST00000248450.4	-	10	1369	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	AAMP_ENST00000420660.1_Missense_Mutation_p.T381M|AAMP_ENST00000444053.1_Missense_Mutation_p.T401M			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	400					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATCTCAGCCGTGTGGCCCCG	0.592													4	98	---	---	---	---	0	0
RBM44	375316	broad.mit.edu	37	2	238737875	238737875	+	Silent	SNP	T	T	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:238737875T>C	ENST00000316997.4	+	13	2751	c.2619T>C	c.(2617-2619)gcT>gcC	p.A873A	RBM44_ENST00000409864.1_Silent_p.A873A	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	872	RRM.						nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CATCTCTTGCTTTTACAAAAA	0.323													2	4	---	---	---	---	0	0
ANKRD28	23243	broad.mit.edu	37	3	15736275	15736275	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:15736275T>A	ENST00000399451.2	-	17	2009	c.1642A>T	c.(1642-1644)Aga>Tga	p.R548*	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Nonsense_Mutation_p.R581*	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	548						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATTGTTGCTCTATTATCTGAA	0.373													22	30	---	---	---	---	0	0
MCM2	4171	broad.mit.edu	37	3	127327355	127327355	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:127327355A>G	ENST00000265056.7	+	7	1476	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	411					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CCAGGAGACGAGATAGTAAGT	0.642													16	20	---	---	---	---	0	0
NDST4	64579	broad.mit.edu	37	4	115767000	115767000	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr4:115767000G>C	ENST00000264363.2	-	10	2772	c.2094C>G	c.(2092-2094)gaC>gaG	p.D698E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	698	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTATGCCCTGTCTGAGGGGT	0.423													15	40	---	---	---	---	0	0
PCDHB1	0	broad.mit.edu	37	5	140432268	140432268	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:140432268G>T	ENST00000306549.3	+	1	1290	c.1213G>T	c.(1213-1215)Gtc>Ttc	p.V405F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		405	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTACTCACTGGTCACTGACAG	0.483													27	47	---	---	---	---	0	0
SPINK5	11005	broad.mit.edu	37	5	147505314	147505314	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:147505314T>C	ENST00000359874.3	+	30	2931	c.2858T>C	c.(2857-2859)aTa>aCa	p.I953T	SPINK5_ENST00000256084.7_Missense_Mutation_p.I923T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	923	Kazal-like 14.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAACTATATAAGGAACAAT	0.413													60	90	---	---	---	---	0	0
UBLCP1	134510	broad.mit.edu	37	5	158696066	158696066	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:158696066T>G	ENST00000296786.6	+	2	469	c.143T>G	c.(142-144)cTc>cGc	p.L48R		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	48	Ubiquitin-like.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTACTTGGACTCAAAGTTAAA	0.318													25	44	---	---	---	---	0	0
KIFC1	3833	broad.mit.edu	37	6	33374066	33374066	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr6:33374066C>A	ENST00000428849.2	+	8	2080	c.1630C>A	c.(1630-1632)Cta>Ata	p.L544I		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	544	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGTATTCCAGCTACAGATTTC	0.642													57	85	---	---	---	---	0	0
TBC1D32	221322	broad.mit.edu	37	6	121642938	121642938	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr6:121642938T>A	ENST00000275159.6	-	2	157	c.158A>T	c.(157-159)tAt>tTt	p.Y53F	TBC1D32_ENST00000398212.2_Missense_Mutation_p.Y53F					TBC1 domain family, member 32																		CACAAATTCATAGCTGAAACA	0.318													29	44	---	---	---	---	0	0
BMPER	168667	broad.mit.edu	37	7	34192862	34192862	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr7:34192862C>A	ENST00000297161.2	+	16	2409	c.2035C>A	c.(2035-2037)Cca>Aca	p.P679T	BMPER_ENST00000426693.1_Missense_Mutation_p.P679T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	679	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTGCATCAAGCCAGTCCTTTG	0.507													18	37	---	---	---	---	0	0
PTN	5764	broad.mit.edu	37	7	136936041	136936041	+	Silent	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr7:136936041G>A	ENST00000348225.2	-	4	814	c.387C>T	c.(385-387)gcC>gcT	p.A129A	PTN_ENST00000393083.2_Silent_p.A129A	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	129					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TCTGGCATTCGGCATTGTGCA	0.507													61	104	---	---	---	---	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39769118	39769118	+	Silent	SNP	A	A	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr14:39769118A>G	ENST00000553728.1	+	13	2541	c.2328A>G	c.(2326-2328)aaA>aaG	p.K776K	CTAGE5_ENST00000557038.1_Silent_p.K161K|CTAGE5_ENST00000341502.5_Silent_p.K241K|RP11-407N17.3_ENST00000603904.1_Silent_p.K212K|CTAGE5_ENST00000396165.4_Silent_p.K212K|CTAGE5_ENST00000553352.1_Silent_p.K212K|CTAGE5_ENST00000556148.1_Silent_p.K166K|CTAGE5_ENST00000280083.3_Silent_p.K241K|CTAGE5_ENST00000396158.2_Silent_p.K246K|CTAGE5_ENST00000341749.3_Silent_p.K229K|CTAGE5_ENST00000348007.3_Silent_p.K241K																							AACTTAATAAACAGAAAGTAA	0.323													28	32	---	---	---	---	0	0
TRIM9	114088	broad.mit.edu	37	14	51560842	51560842	+	Silent	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr14:51560842T>A	ENST00000298355.3	-	1	1937	c.816A>T	c.(814-816)ctA>ctT	p.L272L	TRIM9_ENST00000360392.4_Silent_p.L272L|TRIM9_ENST00000338969.5_Silent_p.L272L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	272					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCACCTTATGTAGTTTCCACA	0.567													20	31	---	---	---	---	0	0
EFCAB5	374786	broad.mit.edu	37	17	28434998	28434998	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr17:28434998T>C	ENST00000394835.3	+	23	4660	c.4468T>C	c.(4468-4470)Tat>Cat	p.Y1490H	EFCAB5_ENST00000394832.2_Missense_Mutation_p.Y962H|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Y1366H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1490							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACTGACAATTATATGTATGC	0.373													34	51	---	---	---	---	0	0
ZNF99	7652	broad.mit.edu	37	19	22942458	22942458	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:22942458A>T	ENST00000397104.3	-	4	315	c.316T>A	c.(316-318)Ttt>Att	p.F106I	ZNF99_ENST00000596209.1_Missense_Mutation_p.F85I					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTGGCCAAAAGTCTTGTGTA	0.289													6	7	---	---	---	---	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217750	130217750	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chrX:130217750T>A	ENST00000276211.5	+	4	707	c.362T>A	c.(361-363)cTg>cAg	p.L121Q	ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L109Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	121					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAAGAGGTCCTGGTGAACGAG	0.552													54	19	---	---	---	---	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809302	18809302	+	Silent	SNP	G	G	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:18809302G>C	ENST00000400664.1	+	1	1879	c.1827G>C	c.(1825-1827)ctG>ctC	p.L609L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	609						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCCGCCTGGACCGCTGGG	0.701													5	11	---	---	---	---	0	0
MOB3C	148932	broad.mit.edu	37	1	47075780	47075780	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:47075780C>T	ENST00000371940.1	-	2	3658	c.584G>A	c.(583-585)aGc>aAc	p.S195N	MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.S224N|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000319928.3_Missense_Mutation_p.S172N			Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	172							metal ion binding										GCTGAGGATGCTATCGAAGTG	0.557													4	95	---	---	---	---	0	0
KCNC4	3749	broad.mit.edu	37	1	110774894	110774894	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:110774894G>T	ENST00000369787.3	+	4	1898	c.1871G>T	c.(1870-1872)tGc>tTc	p.C624F	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000438661.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	624					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGGCTGCATGCCCTCCAACT	0.547													3	11	---	---	---	---	0	0
CD1E	913	broad.mit.edu	37	1	158325904	158325904	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:158325904C>A	ENST00000434258.1	+	4	918	c.907C>A	c.(907-909)Cag>Aag	p.Q303K	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368167.3_Intron			P15812	CD1E_HUMAN	CD1e molecule	0					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGGTGAGAAACAGCTGAGGCT	0.532													7	38	---	---	---	---	0	0
PGAP1	80055	broad.mit.edu	37	2	197791205	197791205	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:197791205G>C	ENST00000354764.4	-	1	250	c.136C>G	c.(136-138)Ccg>Gcg	p.P46A	PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.P46A	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TGATACTCCGGGTACTCAAAC	0.542													7	212	---	---	---	---	0	0
AOX1	316	broad.mit.edu	37	2	201499584	201499584	+	Silent	SNP	A	A	G			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:201499584A>G	ENST00000374700.2	+	21	2533	c.2292A>G	c.(2290-2292)ggA>ggG	p.G764G	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	764					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTCCCAAGGGAGAGGATCAAG	0.413													3	51	---	---	---	---	0	0
CFLAR	8837	broad.mit.edu	37	2	202025331	202025331	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:202025331G>A	ENST00000309955.3	+	9	1485	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	CFLAR_ENST00000457277.1_Missense_Mutation_p.V324M|CFLAR_ENST00000341582.6_Missense_Mutation_p.V289M|CFLAR_ENST00000443227.1_Missense_Mutation_p.V228M|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000423241.2_Missense_Mutation_p.V324M|CFLAR_ENST00000340870.5_Missense_Mutation_p.V324M|CFLAR_ENST00000479953.2_Missense_Mutation_p.V228M	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator		Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TGTGTATGGTGTGGATCAGAC	0.522													14	75	---	---	---	---	0	0
PFKFB4	5210	broad.mit.edu	37	3	48573816	48573816	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr3:48573816A>G	ENST00000232375.3	-	8	825	c.713T>C	c.(712-714)aTc>aCc	p.I238T	PFKFB4_ENST00000536104.1_Missense_Mutation_p.I227T|PFKFB4_ENST00000416568.1_Missense_Mutation_p.I238T|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.I204T|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Missense_Mutation_p.I238T	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	238	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTAATATACGATGCGGCTCTG	0.577													24	98	---	---	---	---	0	0
POLR2B	5431	broad.mit.edu	37	4	57856954	57856954	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:57856954G>T	ENST00000381227.1	+	4	546	c.133G>T	c.(133-135)Gat>Tat	p.D45Y	POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000314595.5_Missense_Mutation_p.D45Y|POLR2B_ENST00000441246.2_Missense_Mutation_p.D38Y			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	45					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ACAACAGCTGGATTCTTTTGA	0.408													30	96	---	---	---	---	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535901	69535901	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:69535901A>T	ENST00000338206.5	-	1	445	c.436T>A	c.(436-438)Ttt>Att	p.F146I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	146					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATGACATCAAACTTTGACTCT	0.373													12	307	---	---	---	---	0	0
NPY2R	4887	broad.mit.edu	37	4	156135918	156135918	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:156135918T>A	ENST00000329476.3	+	2	1316	c.827T>A	c.(826-828)gTg>gAg	p.V276E	NPY2R_ENST00000506608.1_Missense_Mutation_p.V276E	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	276					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GTGGTGGTGGTGTTTGCGGTC	0.512													7	33	---	---	---	---	0	0
DNAH8	1769	broad.mit.edu	37	6	38877389	38877389	+	Silent	SNP	G	G	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:38877389G>T	ENST00000359357.3	+	63	9212	c.8958G>T	c.(8956-8958)ctG>ctT	p.L2986L	DNAH8_ENST00000449981.2_Silent_p.L3203L|DNAH8_ENST00000441566.1_Silent_p.L2950L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGAGGCTCTGATTGCTGTGG	0.453													5	74	---	---	---	---	0	0
SMC2	10592	broad.mit.edu	37	9	106858474	106858474	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr9:106858474G>C	ENST00000286398.7	+	3	502	c.214G>C	c.(214-216)Gct>Cct	p.A72P	SMC2_ENST00000374787.3_Missense_Mutation_p.A72P|SMC2_ENST00000303219.8_Missense_Mutation_p.A72P|SMC2_ENST00000374793.3_Missense_Mutation_p.A72P	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	72					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAATGGGCAGGCTGGTATTAC	0.343													22	77	---	---	---	---	0	0
APBB1IP	54518	broad.mit.edu	37	10	26785235	26785235	+	Silent	SNP	T	T	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr10:26785235T>C	ENST00000376236.4	+	4	530	c.75T>C	c.(73-75)agT>agC	p.S25S	APBB1IP_ENST00000356785.4_Silent_p.S25S	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	25					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTCACAGAGTTTAGGAGTTG	0.378													4	61	---	---	---	---	0	0
PPIF	10105	broad.mit.edu	37	10	81113578	81113578	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr10:81113578G>A	ENST00000225174.3	+	6	675	c.604G>A	c.(604-606)Gac>Aac	p.D202N	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	202	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	TGTCATCACAGACTGTGGCCA	0.537													6	40	---	---	---	---	0	0
GDPD4	220032	broad.mit.edu	37	11	76980034	76980034	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr11:76980034A>C	ENST00000315938.4	-	8	809	c.559T>G	c.(559-561)Tgc>Ggc	p.C187G	GDPD4_ENST00000376217.2_Missense_Mutation_p.C187G	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	187					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TCCTGAATGCAGGGAGAATAA	0.438													53	94	---	---	---	---	0	0
IGFBP6	3489	broad.mit.edu	37	12	53494618	53494618	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:53494618G>A	ENST00000548547.1	+	2	733	c.451G>A	c.(451-453)Gcg>Acg	p.A151T	IGFBP6_ENST00000301464.3_Missense_Mutation_p.A153T|IGFBP6_ENST00000549628.1_3'UTR			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	153					negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GCCCAATTCTGCGGGTGTCCA	0.602													14	66	---	---	---	---	0	0
MYO1E	4643	broad.mit.edu	37	15	59500983	59500983	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr15:59500983C>T	ENST00000288235.4	-	14	1826	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	476	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTGATCTGCCCCCTCACCCAC	0.537													13	54	---	---	---	---	0	0
CIRH1A	84916	broad.mit.edu	37	16	69194341	69194341	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr16:69194341T>A	ENST00000563094.1	+	13	1561	c.1527T>A	c.(1525-1527)caT>caA	p.H509Q	CIRH1A_ENST00000352319.4_Missense_Mutation_p.H394Q|CIRH1A_ENST00000314423.7_Missense_Mutation_p.H509Q			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	509						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CTGGAGTCCATGTCTACAACG	0.478													4	82	---	---	---	---	0	0
CDH13	1012	broad.mit.edu	37	16	83636156	83636156	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr16:83636156T>A	ENST00000566620.1	+	8	1348	c.1058T>A	c.(1057-1059)aTc>aAc	p.I353N	CDH13_ENST00000428848.3_Missense_Mutation_p.I314N|CDH13_ENST00000268613.10_Missense_Mutation_p.I400N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	353	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACGATCATGATCGATGACAAA	0.453													34	115	---	---	---	---	0	0
DCDC2B	149069	broad.mit.edu	37	1	32674910	32674910	+	Silent	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:32674910G>A	ENST00000409358.1	+	1	216	c.216G>A	c.(214-216)aaG>aaA	p.K72K		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	72	Doublecortin 1.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGACTTGAAGAACAGAGGGC	0.582													22	53	---	---	---	---	0	0
RNF220	55182	broad.mit.edu	37	1	44877961	44877961	+	Silent	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:44877961C>T	ENST00000355387.2	+	2	642	c.192C>T	c.(190-192)aaC>aaT	p.N64N	RNF220_ENST00000361799.2_Silent_p.N64N|RNF220_ENST00000372247.2_Silent_p.N64N			Q5VTB9	RN220_HUMAN	ring finger protein 220	64					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTTTCACCAACGGTTCCTATA	0.547													78	244	---	---	---	---	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10915197	10915197	+	Splice_Site	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:10915197T>A	ENST00000381661.3	+	10	934	c.825T>A	c.(823-825)taT>taA	p.Y275*	ATP6V1C2_ENST00000272238.4_Splice_Site_p.Y275*	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	275					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGCAACAGTATGTGAGTATGT	0.498													11	32	---	---	---	---	0	0
KRCC1	51315	broad.mit.edu	37	2	88327466	88327466	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:88327466G>C	ENST00000347055.3	-	4	1010	c.617C>G	c.(616-618)aCc>aGc	p.T206S		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	206	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						GACATGTACGGTTTCTATTTC	0.383													64	145	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	140995791	140995791	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:140995791A>G	ENST00000389484.3	-	89	14461	c.13490T>C	c.(13489-13491)aTg>aCg	p.M4497T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4497					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACCTCATACATGTTATAAGA	0.338										TSP Lung(27;0.18)			13	41	---	---	---	---	0	0
FARP2	9855	broad.mit.edu	37	2	242373670	242373670	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:242373670T>G	ENST00000264042.3	+	10	1135	c.965T>G	c.(964-966)cTt>cGt	p.L322R	FARP2_ENST00000545004.1_Missense_Mutation_p.L322R|FARP2_ENST00000373287.4_Missense_Mutation_p.L322R	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	322	FERM.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTTTTTAGACTTTTGGACCAA	0.478													6	77	---	---	---	---	0	0
LRRC15	131578	broad.mit.edu	37	3	194080233	194080233	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr3:194080233C>A	ENST00000347624.3	-	2	1625	c.1540G>T	c.(1540-1542)Gac>Tac	p.D514Y	LRRC15_ENST00000428839.1_Missense_Mutation_p.D520Y|LRRC15_ENST00000439944.2_Missense_Mutation_p.D520Y	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	514						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCAGTGTAGTCTTCCACAGGG	0.557													12	32	---	---	---	---	0	0
NLN	57486	broad.mit.edu	37	5	65077143	65077143	+	Silent	SNP	T	T	C			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr5:65077143T>C	ENST00000380985.5	+	6	895	c.717T>C	c.(715-717)taT>taC	p.Y239Y	NLN_ENST00000502464.1_Silent_p.Y135Y	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	239					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATGACAAGTATAAAATTACCT	0.338													12	52	---	---	---	---	0	0
H2AFV	94239	broad.mit.edu	37	7	44874154	44874154	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:44874154G>C	ENST00000308153.4	-	5	424	c.333C>G	c.(331-333)atC>atG	p.I111M	H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000521529.1_3'UTR|H2AFV_ENST00000350771.3_Missense_Mutation_p.I85M|H2AFV_ENST00000349299.3_Missense_Mutation_p.I73M|H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000381124.5_3'UTR	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	111					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						GGATGTGAGGGATCACACCTA	0.333													6	43	---	---	---	---	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86537841	86537841	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:86537841G>A	ENST00000450689.2	-	17	2563	c.2378C>T	c.(2377-2379)aCa>aTa	p.T793I	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T553I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T626I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T722I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	793						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ATTTTTCAATGTGGTTTCAAC	0.303													22	34	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100685726	100685726	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:100685726G>T	ENST00000306151.4	+	3	11093	c.11029G>T	c.(11029-11031)Gtg>Ttg	p.V3677L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3677	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCATCTCCTGTGACTCCTGA	0.517													43	94	---	---	---	---	0	0
SMU1	55234	broad.mit.edu	37	9	33057683	33057683	+	Silent	SNP	A	A	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr9:33057683A>G	ENST00000397149.3	-	7	830	c.780T>C	c.(778-780)ttT>ttC	p.F260F	SMU1_ENST00000536631.1_Silent_p.F99F	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	260						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CCATCATCATAAAGTTATCTT	0.403													5	147	---	---	---	---	0	0
HSPA12A	259217	broad.mit.edu	37	10	118460629	118460629	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr10:118460629C>T	ENST00000369209.3	-	4	370	c.266G>A	c.(265-267)gGa>gAa	p.G89E		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	89							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AGGGTCACCTCCCTCCCATCG	0.527													17	48	---	---	---	---	0	0
SCYL1	57410	broad.mit.edu	37	11	65302785	65302785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:65302785G>T	ENST00000524944.1	+	10	1351	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	SCYL1_ENST00000527009.1_Nonsense_Mutation_p.E297*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.E440*|SCYL1_ENST00000270176.5_Nonsense_Mutation_p.E440*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.E440*			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	440					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GGCCAAGGATGAACAGGGCCC	0.592													17	63	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108224576	108224576	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:108224576G>A	ENST00000278616.4	+	60	9140	c.8755G>A	c.(8755-8757)Ggc>Agc	p.G2919S	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G2919S|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2919	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGATGGCATGGGCATTACGGG	0.408			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			28	97	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108224578	108224578	+	Silent	SNP	C	C	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:108224578C>G	ENST00000278616.4	+	60	9142	c.8757C>G	c.(8755-8757)ggC>ggG	p.G2919G	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Silent_p.G2919G|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2919	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATGGCATGGGCATTACGGGTG	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			28	97	---	---	---	---	0	0
UNC79	57578	broad.mit.edu	37	14	94008906	94008906	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr14:94008906T>A	ENST00000553484.1	+	14	1773	c.1619T>A	c.(1618-1620)aTg>aAg	p.M540K	UNC79_ENST00000256339.4_Missense_Mutation_p.M363K|UNC79_ENST00000555664.1_Missense_Mutation_p.M540K|UNC79_ENST00000393151.2_Missense_Mutation_p.M540K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	540						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACTGCGTATATGATGGATGAT	0.512													14	107	---	---	---	---	0	0
SLTM	79811	broad.mit.edu	37	15	59186349	59186349	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr15:59186349T>A	ENST00000380516.2	-	11	1508	c.1421A>T	c.(1420-1422)gAt>gTt	p.D474V	SLTM_ENST00000536328.1_Missense_Mutation_p.D43V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	474					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTCTTTTCATCATTTTCTTT	0.284													8	22	---	---	---	---	0	0
SLTM	79811	broad.mit.edu	37	15	59186350	59186350	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr15:59186350C>T	ENST00000380516.2	-	11	1507	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	SLTM_ENST00000536328.1_Missense_Mutation_p.D43N	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	474					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTTTTCATCATTTTCTTTC	0.284													8	21	---	---	---	---	0	0
ZNF319	0	broad.mit.edu	37	16	58030795	58030795	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr16:58030795G>A	ENST00000299237.2	-	2	1997	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AGCGTGCAGCGCAGGGGCTTC	0.662													3	8	---	---	---	---	0	0
FBXW10	10517	broad.mit.edu	37	17	18651256	18651256	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:18651256C>T	ENST00000308799.4	+	2	727	c.508C>T	c.(508-510)Ctc>Ttc	p.L170F	FBXW10_ENST00000395667.1_Missense_Mutation_p.L170F|FBXW10_ENST00000395665.4_Missense_Mutation_p.L170F|FBXW10_ENST00000301938.4_Missense_Mutation_p.L170F			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	170										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGTTTCAGGGCTCAATCAAGA	0.443													7	63	---	---	---	---	0	0
GOSR1	9527	broad.mit.edu	37	17	28808252	28808252	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:28808252T>A	ENST00000225724.5	+	2	195	c.123T>A	c.(121-123)agT>agA	p.S41R	GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000579905.1_3'UTR|GOSR1_ENST00000581721.1_Missense_Mutation_p.S41R|GOSR1_ENST00000451249.2_Missense_Mutation_p.S41R	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	41					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GTCATAGCAGTACCCGAGATG	0.373													23	82	---	---	---	---	0	0
SP2	6668	broad.mit.edu	37	17	46002397	46002397	+	Silent	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:46002397G>A	ENST00000376741.4	+	5	1622	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q	AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	495					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GAGAGACCCAGCCCGGGGAGA	0.602													13	39	---	---	---	---	0	0
LILRA6	79168	broad.mit.edu	37	19	54745451	54745451	+	Splice_Site	SNP	C	C	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr19:54745451C>A	ENST00000440558.2	-	4	707		c.e4+1		LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Splice_Site|LILRA6_ENST00000245621.5_Splice_Site|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000396365.2_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCTCCCTCACCTGAGGGCAG	0.572													14	41	---	---	---	---	0	0
BAGE2	85319	broad.mit.edu	37	21	11039424	11039424	+	RNA	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr21:11039424T>A	ENST00000470054.1	-	0	779									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCAATTCGGTATTCACTGTA	0.279													4	110	---	---	---	---	0	0
LHX8	431707	broad.mit.edu	37	1	75602926	75602926	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr1:75602926G>A	ENST00000294638.5	+	4	911	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	LHX8_ENST00000356261.3_Missense_Mutation_p.V73M|LHX8_ENST00000559413.1_3'UTR	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	83	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCTGGAGATCGTGGACAAATA	0.647													11	14	---	---	---	---	0	0
DTX2	113878	broad.mit.edu	37	7	76112081	76112081	+	Silent	SNP	A	A	G			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr7:76112081A>G	ENST00000324432.5	+	5	1035	c.525A>G	c.(523-525)caA>caG	p.Q175Q	DTX2_ENST00000446600.1_Silent_p.Q84Q|DTX2_ENST00000413936.2_Silent_p.Q175Q|DTX2_ENST00000446820.2_Silent_p.Q175Q|DTX2_ENST00000307569.8_Silent_p.Q175Q|DTX2_ENST00000430490.2_Silent_p.Q175Q	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	175					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TGCGGCGCCAAGCAGGGCCGC	0.647													23	17	---	---	---	---	0	0
CPA2	1358	broad.mit.edu	37	7	129912964	129912964	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr7:129912964A>C	ENST00000222481.4	+	5	488	c.433A>C	c.(433-435)Agc>Cgc	p.S145R		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	145					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGGTCTAGTGAGCAAAGTGAA	0.453													14	49	---	---	---	---	0	0
DNAI1	27019	broad.mit.edu	37	9	34490062	34490062	+	Silent	SNP	C	C	T			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr9:34490062C>T	ENST00000242317.4	+	6	612	c.441C>T	c.(439-441)gaC>gaT	p.D147D	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	147					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCGAAGAAGACGAAGAGCCCA	0.488									Kartagener syndrome				12	13	---	---	---	---	0	0
BCL9L	283149	broad.mit.edu	37	11	118773329	118773329	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr11:118773329G>A	ENST00000334801.3	-	6	2087	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	375	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCAGGGCCGGGGGCACTGCTG	0.692													9	23	---	---	---	---	0	0
CILP	8483	broad.mit.edu	37	15	65496880	65496880	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr15:65496880G>C	ENST00000261883.4	-	6	811	c.645C>G	c.(643-645)gaC>gaG	p.D215E		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	215					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGGCATCACAGTCAGCATTCA	0.577													12	16	---	---	---	---	0	0
USP31	57478	broad.mit.edu	37	16	23080009	23080009	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr16:23080009C>A	ENST00000219689.7	-	16	3416	c.3417G>T	c.(3415-3417)agG>agT	p.R1139S	USP31_ENST00000567975.1_Missense_Mutation_p.R432S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1139	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGAAAGGGCTCCTTGTGGCAG	0.592													27	41	---	---	---	---	0	0
PRR12	57479	broad.mit.edu	37	19	50123646	50123646	+	Silent	SNP	G	G	A			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr19:50123646G>A	ENST00000418929.2	+	10	5547	c.5535G>A	c.(5533-5535)gcG>gcA	p.A1845A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1024							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AAACCAGGGCGATGCGGGAGA	0.587													3	6	---	---	---	---	0	0
LPPR5	0	broad.mit.edu	37	1	99380467	99380467	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr1:99380467C>T	ENST00000370188.3	-	5	1168	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	LPPR5_ENST00000263177.4_Missense_Mutation_p.V270M	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		270						integral to membrane	hydrolase activity										TTATTCACCACGCACACAACC	0.393													4	99	---	---	---	---	0	0
USH2A	7399	broad.mit.edu	37	1	216246603	216246603	+	Missense_Mutation	SNP	C	C	T	rs140895792	byFrequency	TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr1:216246603C>T	ENST00000366943.2	-	28	5998	c.5612G>A	c.(5611-5613)gGt>gAt	p.G1871D	USH2A_ENST00000307340.3_Missense_Mutation_p.G1871D|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1871	Fibronectin type-III 5.|Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACGACAGCACCCCGTGTAAA	0.443										HNSCC(13;0.011)			10	6	---	---	---	---	0	0
ALMS1	7840	broad.mit.edu	37	2	73717897	73717897	+	Nonsense_Mutation	SNP	T	T	G			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr2:73717897T>G	ENST00000264448.6	+	10	8919	c.8808T>G	c.(8806-8808)taT>taG	p.Y2936*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Y2894*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2936					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGCCCCATATGTAGATCATC	0.428													5	136	---	---	---	---	0	0
IGKV1-6	0	broad.mit.edu	37	2	89265896	89265896	+	RNA	SNP	C	C	T			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr2:89265896C>T	ENST00000464162.1	-	0	264																											TGATGGGACCCCACTTTGTAA	0.488													37	120	---	---	---	---	0	0
POTEE	445582	broad.mit.edu	37	2	131976101	131976101	+	Silent	SNP	C	C	T			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr2:131976101C>T	ENST00000356920.5	+	1	220	c.126C>T	c.(124-126)aaC>aaT	p.N42N	POTEE_ENST00000358087.5_Silent_p.N42N|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	42							ATP binding										GCAAGAGCAACGTGGGCACTT	0.592													4	160	---	---	---	---	0	0
ITGA2	3673	broad.mit.edu	37	5	52344214	52344214	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr5:52344214C>A	ENST00000296585.5	+	5	552	c.409C>A	c.(409-411)Cag>Aag	p.Q137K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	137					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCTGTGGGCACAGCAATGTGG	0.438													13	6	---	---	---	---	0	0
NRG2	9542	broad.mit.edu	37	5	139232068	139232068	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr5:139232068G>C	ENST00000541337.1	-	6	1524	c.1295C>G	c.(1294-1296)tCc>tGc	p.S432C	NRG2_ENST00000289409.4_Missense_Mutation_p.S492C|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000340391.3_Missense_Mutation_p.S295C|NRG2_ENST00000289422.7_Missense_Mutation_p.S506C|NRG2_ENST00000545385.1_Missense_Mutation_p.S500C|NRG2_ENST00000361474.1_Missense_Mutation_p.S498C|NRG2_ENST00000358522.3_Missense_Mutation_p.S500C|NRG2_ENST00000394770.1_3'UTR	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	498					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACAGGAGTGGCTCCC	0.537													11	26	---	---	---	---	0	0
PCDHGA8	0	broad.mit.edu	37	5	140772818	140772818	+	Silent	SNP	G	G	A			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr5:140772818G>A	ENST00000398604.2	+	1	438	c.438G>A	c.(436-438)gcG>gcA	p.A146A	PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAAATCGCGGTTCCTGGAG	0.453													26	39	---	---	---	---	0	0
C6orf89	221477	broad.mit.edu	37	6	36891198	36891198	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr6:36891198C>A	ENST00000480824.2	+	9	1319	c.1025C>A	c.(1024-1026)aCc>aAc	p.T342N	C6orf89_ENST00000510325.2_Missense_Mutation_p.T236N|C6orf89_ENST00000359359.2_Missense_Mutation_p.T236N|C6orf89_ENST00000355190.3_Missense_Mutation_p.T349N|C6orf89_ENST00000373685.1_Missense_Mutation_p.T342N			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	342						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TGCGATGGAACCGCTTTCTCA	0.473													12	40	---	---	---	---	0	0
HGF	3082	broad.mit.edu	37	7	81359092	81359092	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr7:81359092T>C	ENST00000222390.5	-	8	1095	c.869A>G	c.(868-870)gAc>gGc	p.D290G	HGF_ENST00000457544.2_Missense_Mutation_p.D285G	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	290					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CATAGTATTGTCAGCTATTGG	0.358													21	42	---	---	---	---	0	0
LAMB1	3912	broad.mit.edu	37	7	107626753	107626753	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr7:107626753C>A	ENST00000393561.1	-	4	735	c.551G>T	c.(550-552)tGg>tTg	p.W184L	LAMB1_ENST00000393560.1_Missense_Mutation_p.W160L|LAMB1_ENST00000222399.6_Missense_Mutation_p.W160L			P07942	LAMB1_HUMAN	laminin, beta 1	160	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATACACACCCCAGGTTTTCCC	0.438													15	40	---	---	---	---	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794525	37794525	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr8:37794525C>A	ENST00000307599.4	-	5	669	c.570G>T	c.(568-570)aaG>aaT	p.K190N		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	190					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TTGGTGTCAACTTGCAGTCGA	0.537													14	29	---	---	---	---	0	0
LRP12	29967	broad.mit.edu	37	8	105509398	105509398	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr8:105509398T>C	ENST00000276654.5	-	5	1490	c.1382A>G	c.(1381-1383)aAt>aGt	p.N461S	LRP12_ENST00000424843.2_Missense_Mutation_p.N442S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	461	LDL-receptor class A 5.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CACACAACGATTGTTTTTACA	0.423													13	44	---	---	---	---	0	0
A1CF	29974	broad.mit.edu	37	10	52573721	52573721	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr10:52573721C>G	ENST00000374001.2	-	9	1358	c.1219G>C	c.(1219-1221)Gga>Cga	p.G407R	A1CF_ENST00000373995.3_Missense_Mutation_p.G415R|A1CF_ENST00000493415.1_5'UTR|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Missense_Mutation_p.G360R|A1CF_ENST00000373997.3_Missense_Mutation_p.G407R|A1CF_ENST00000395489.2_Missense_Mutation_p.G408R|A1CF_ENST00000282641.2_Missense_Mutation_p.G415R|A1CF_ENST00000373993.1_Missense_Mutation_p.G415R			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor		Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTTTTGTCTCCTTTGACCTGG	0.493													17	39	---	---	---	---	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687766	68687766	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr10:68687766T>G	ENST00000361320.4	+	2	1670	c.1092T>G	c.(1090-1092)agT>agG	p.S364R	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	364						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GTGGCAAAAGTACTACAGAGA	0.512													4	36	---	---	---	---	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118352048	118352048	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr10:118352048T>A	ENST00000528052.1	+	4	396	c.325T>A	c.(325-327)Tgc>Agc	p.C109S	PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.C109S|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.C109S|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.C109S			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	109					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GACAGACATGTGCAAGGTAGG	0.448													12	28	---	---	---	---	0	0
LRP4	4038	broad.mit.edu	37	11	46924428	46924428	+	Silent	SNP	T	T	G			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr11:46924428T>G	ENST00000378623.1	-	2	347	c.105A>C	c.(103-105)gcA>gcC	p.A35A		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	35	LDL-receptor class A 1.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GAGCACTCACTGCACATGTGA	0.587													11	22	---	---	---	---	0	0
OR5L2	26338	broad.mit.edu	37	11	55594965	55594965	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr11:55594965G>A	ENST00000378397.1	+	1	271	c.271G>A	c.(271-273)Gcc>Acc	p.A91T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A91T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CAAGGACAAAGCCATCTCCTT	0.463										HNSCC(27;0.073)			5	132	---	---	---	---	0	0
TBX3	6926	broad.mit.edu	37	12	115118775	115118775	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr12:115118775T>A	ENST00000349155.2	-	2	1529	c.566A>T	c.(565-567)gAc>gTc	p.D189V	TBX3_ENST00000257566.3_Missense_Mutation_p.D189V	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	189					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGCGGGGCTGTCCGGGTGAAT	0.468													5	58	---	---	---	---	0	0
THTPA	0	broad.mit.edu	37	14	24026130	24026130	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr14:24026130G>A	ENST00000288014.6	+	1	900	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.R55Q|THTPA_ENST00000556015.1_Missense_Mutation_p.R55Q|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.R55Q|THTPA_ENST00000554970.1_Missense_Mutation_p.R55Q|RP11-66N24.4_ENST00000556354.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	55					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	CACTGGCTGCGACGACGAGAG	0.577													4	10	---	---	---	---	0	0
DDX24	57062	broad.mit.edu	37	14	94526642	94526642	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr14:94526642G>C	ENST00000330836.5	-	5	1846	c.1715C>G	c.(1714-1716)aCt>aGt	p.T572S	DDX24_ENST00000555054.1_Missense_Mutation_p.T529S|DDX24_ENST00000544005.1_Missense_Mutation_p.T322S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	572					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTCTCATCAGTCTCACAATG	0.498													28	46	---	---	---	---	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414154	105414154	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr14:105414154C>T	ENST00000333244.5	-	7	7753	c.7634G>A	c.(7633-7635)gGc>gAc	p.G2545D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2545						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCACTTGGCCAGCCTGGAC	0.642													4	157	---	---	---	---	0	0
TCF12	6938	broad.mit.edu	37	15	57484403	57484403	+	Silent	SNP	A	A	G			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr15:57484403A>G	ENST00000267811.5	+	7	742	c.438A>G	c.(436-438)ctA>ctG	p.L146L	TCF12_ENST00000452095.2_Silent_p.L142L|TCF12_ENST00000557843.1_Silent_p.L146L|TCF12_ENST00000333725.5_Silent_p.L146L|TCF12_ENST00000438423.2_Silent_p.L146L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	146					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAGCACAGCTATCTTCTTCAG	0.468			T	TEC	extraskeletal myxoid chondrosarcoma								16	42	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr17:47696644A>C	ENST00000393331.3	-	6	774	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408										Prostate(2;0.17)			23	62	---	---	---	---	0	0
GYS1	2997	broad.mit.edu	37	19	49490530	49490530	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr19:49490530T>C	ENST00000323798.3	-	3	609	c.413A>G	c.(412-414)aAc>aGc	p.N138S	GYS1_ENST00000263276.6_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.N58S|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Missense_Mutation_p.N58S|GYS1_ENST00000457974.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	138					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CACTCCGATGTTGCAGGTATC	0.637													3	5	---	---	---	---	0	0
NCOA3	8202	broad.mit.edu	37	20	46267838	46267838	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr20:46267838A>G	ENST00000372004.3	+	14	2815	c.2599A>G	c.(2599-2601)Agt>Ggt	p.S867G	NCOA3_ENST00000371998.3_Missense_Mutation_p.S867G|NCOA3_ENST00000371997.3_Missense_Mutation_p.S877G|NCOA3_ENST00000341724.6_Intron	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	867					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGTTGGCTCAAGTCCTCCAGT	0.438													25	56	---	---	---	---	0	0
THOC5	8563	broad.mit.edu	37	22	29904508	29904508	+	Splice_Site	SNP	C	C	A			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr22:29904508C>A	ENST00000490103.1	-	20	2112	c.1990G>T	c.(1990-1992)Ggt>Tgt	p.G664C	THOC5_ENST00000397873.2_Splice_Site_p.G664C|THOC5_ENST00000397871.1_Splice_Site_p.G664C|THOC5_ENST00000397872.1_Splice_Site_p.G664C	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	664					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGCTAGGACCCCTAGAGAAA	0.458													3	14	---	---	---	---	0	0
OR11L1	391189	broad.mit.edu	37	1	248004453	248004453	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr1:248004453G>C	ENST00000355784.2	-	1	801	c.746C>G	c.(745-747)aCt>aGt	p.T249S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTAGTAGAGAGTGACAACAGC	0.498													9	28	---	---	---	---	0	0
PLB1	151056	broad.mit.edu	37	2	28752252	28752252	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:28752252G>T	ENST00000422425.2	+	7	438	c.394G>T	c.(394-396)Gtc>Ttc	p.V132F	PLB1_ENST00000327757.5_Missense_Mutation_p.V132F	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	132	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGAAAGAGAGTCATACCCCA	0.483													8	53	---	---	---	---	0	0
GHRL	51738	broad.mit.edu	37	3	10331494	10331494	+	Silent	SNP	C	C	T	rs113751742	byFrequency	TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:10331494C>T	ENST00000335542.8	-	4	1047	c.177G>A	c.(175-177)ccG>ccA	p.P59P	GHRL_ENST00000449238.2_Silent_p.P46P|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000422159.1_Silent_p.P59P|GHRL_ENST00000450603.1_Silent_p.P59P|GHRL_ENST00000449554.2_Silent_p.P58P|GHRL_ENST00000457360.1_Silent_p.P59P|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000446937.2_Intron|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000430179.1_Silent_p.P58P|GHRL_ENST00000287656.7_Silent_p.P58P|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000437422.2_Silent_p.P47P|GHRL_ENST00000429122.1_Silent_p.P59P			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	59					actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						CTCCATCTTCCGGGCGGAGCC	0.587													5	130	---	---	---	---	0	0
SI	6476	broad.mit.edu	37	3	164714349	164714349	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:164714349T>C	ENST00000264382.3	-	40	4728	c.4666A>G	c.(4666-4668)Agg>Ggg	p.R1556G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1556	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTGTGATTCCTTGAGTATGGA	0.353										HNSCC(35;0.089)			54	146	---	---	---	---	0	0
WDFY3	23001	broad.mit.edu	37	4	85656271	85656271	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr4:85656271C>A	ENST00000322366.6	-	43	7325	c.6918G>T	c.(6916-6918)gaG>gaT	p.E2306D	WDFY3_ENST00000295888.4_Missense_Mutation_p.E2306D			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2306						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTGCGAAATCTCCTAACAAT	0.299													18	38	---	---	---	---	0	0
GRM1	2911	broad.mit.edu	37	6	146755853	146755853	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:146755853C>T	ENST00000361719.2	+	9	3976	c.3506C>T	c.(3505-3507)tCg>tTg	p.S1169L	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.S1169L|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1169	Ser-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTGTCCGAGTCGGTGCTCTGC	0.627													16	34	---	---	---	---	0	0
CLDN20	49861	broad.mit.edu	37	6	155597385	155597385	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:155597385G>A	ENST00000367165.3	+	2	912	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	178					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		GTTTATCTCTGGCATGATTTT	0.438													18	58	---	---	---	---	0	0
NPTX2	4885	broad.mit.edu	37	7	98257788	98257788	+	Silent	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr7:98257788C>T	ENST00000265634.3	+	5	1308	c.1143C>T	c.(1141-1143)cgC>cgT	p.R381R		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	381	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TATGGGACCGCGTCCTTCGCG	0.557													4	8	---	---	---	---	0	0
NRAP	4892	broad.mit.edu	37	10	115364399	115364399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr10:115364399C>T	ENST00000369358.4	-	35	4464	c.4220G>A	c.(4219-4221)tGg>tAg	p.W1407*	NRAP_ENST00000359988.3_Nonsense_Mutation_p.W1399*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.W1372*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.W1364*			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1399						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTTCTTGGCCCAGGCCATCTT	0.582													15	20	---	---	---	---	0	0
NKX6-2	84504	broad.mit.edu	37	10	134598510	134598510	+	Silent	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr10:134598510G>A	ENST00000368592.5	-	3	847	c.744C>T	c.(742-744)gaC>gaT	p.D248D		NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	248						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		TGATCTTCTCGTCGTCCGAGT	0.672													3	24	---	---	---	---	0	0
TENM4	26011	broad.mit.edu	37	11	78380123	78380123	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr11:78380123C>A	ENST00000278550.7	-	32	7729	c.7267G>T	c.(7267-7269)Gtg>Ttg	p.V2423L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CCGGCCAGCACATCATAATCT	0.498													8	19	---	---	---	---	0	0
ITPR2	3709	broad.mit.edu	37	12	26596569	26596569	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr12:26596569A>C	ENST00000381340.3	-	46	6773	c.6357T>G	c.(6355-6357)aaT>aaG	p.N2119K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2119					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCAACAGTTTATTGTGGCGGG	0.423													13	24	---	---	---	---	0	0
C12orf42	374470	broad.mit.edu	37	12	103700092	103700092	+	Silent	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr12:103700092C>T	ENST00000548048.1	-	8	586	c.90G>A	c.(88-90)gcG>gcA	p.A30A	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.A97A|C12orf42_ENST00000548883.1_Silent_p.A97A|C12orf42_ENST00000548789.1_5'UTR			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	97								p.A97A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GTCTTTTACACGCCATTGAAT	0.378													3	17	---	---	---	---	0	0
FRMD5	84978	broad.mit.edu	37	15	44166604	44166604	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr15:44166604C>T	ENST00000417257.1	-	14	1368	c.1192G>A	c.(1192-1194)Ggg>Agg	p.G398R	FRMD5_ENST00000402883.1_Missense_Mutation_p.G398R|FRMD5_ENST00000484674.1_Missense_Mutation_p.G304R	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	398						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AAGGTGTCCCCATGGGAAGTG	0.562													10	38	---	---	---	---	0	0
SRCAP	10847	broad.mit.edu	37	16	30732587	30732587	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr16:30732587C>T	ENST00000262518.4	+	21	3716	c.3331C>T	c.(3331-3333)Cct>Tct	p.P1111S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1111S|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1111	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCAACACCACCTGCCCCAGT	0.632													22	54	---	---	---	---	0	0
ALOX12B	242	broad.mit.edu	37	17	7983166	7983166	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:7983166A>T	ENST00000319144.4	-	7	1108	c.848T>A	c.(847-849)aTc>aAc	p.I283N	AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	283	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CTTGTCTGGGATCCGCGTGCA	0.657										Multiple Myeloma(8;0.094)			5	11	---	---	---	---	0	0
SMCR8	140775	broad.mit.edu	37	17	18219934	18219934	+	Silent	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:18219934G>A	ENST00000406438.3	+	1	1311	c.831G>A	c.(829-831)caG>caA	p.Q277Q		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	277										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCCAGGATCAGGCCAGCCAGG	0.512													7	27	---	---	---	---	0	0
KIAA1468	57614	broad.mit.edu	37	18	59894681	59894681	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr18:59894681A>G	ENST00000256858.6	+	6	1266	c.1018A>G	c.(1018-1020)Ata>Gta	p.I340V	KIAA1468_ENST00000398130.2_Missense_Mutation_p.I340V			Q9P260	K1468_HUMAN	KIAA1468	340							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TACACCAATTATAAGCAACCT	0.403													10	77	---	---	---	---	0	0
RBM12	10137	broad.mit.edu	37	20	34240454	34240454	+	Silent	SNP	A	A	G			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr20:34240454A>G	ENST00000374114.3	-	3	3054	c.2791T>C	c.(2791-2793)Tta>Cta	p.L931L	CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Silent_p.L931L|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.L931L|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000317619.3_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	931	RRM 3.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGCTACCCTAATACAAGTTTT	0.403													11	77	---	---	---	---	0	0
MOV10L1	54456	broad.mit.edu	37	22	50581567	50581567	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr22:50581567G>T	ENST00000262794.5	+	17	2358	c.2275G>T	c.(2275-2277)Ggt>Tgt	p.G759C	MOV10L1_ENST00000540615.1_Missense_Mutation_p.G739C|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G759C|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G759C	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	759					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GATTCTGAGTGGTGACTGCCG	0.443													6	122	---	---	---	---	0	0
SCMH1	22955	broad.mit.edu	37	1	41503177	41503177	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:41503177G>A	ENST00000402904.2	-	13	1873	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	SCMH1_ENST00000372596.1_Missense_Mutation_p.S441F|SCMH1_ENST00000361705.3_Missense_Mutation_p.S455F|SCMH1_ENST00000397174.2_Missense_Mutation_p.S482F|SCMH1_ENST00000372597.1_Missense_Mutation_p.S455F|SCMH1_ENST00000326197.7_Missense_Mutation_p.S502F|SCMH1_ENST00000456518.2_Missense_Mutation_p.S344F|SCMH1_ENST00000361191.5_Missense_Mutation_p.S441F|SCMH1_ENST00000397171.2_Missense_Mutation_p.S441F|SCMH1_ENST00000337495.5_Missense_Mutation_p.S512F|SCMH1_ENST00000372595.1_Missense_Mutation_p.S441F	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	502					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGGTTCCAAGGAGCGGGCCAG	0.532													24	80	---	---	---	---	0	0
S100A8	6279	broad.mit.edu	37	1	153362588	153362588	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:153362588G>T	ENST00000368733.3	-	3	442	c.273C>A	c.(271-273)caC>caA	p.H91Q	S100A8_ENST00000368732.1_Missense_Mutation_p.H91Q	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	91				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).	chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTACTCTTTGTGGCTTTCTT	0.468													18	88	---	---	---	---	0	0
RANBP2	5903	broad.mit.edu	37	2	109365442	109365442	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:109365442C>T	ENST00000283195.6	+	9	1256	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	377					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAACTTTTGCCAACAAAAGC	0.348													5	301	---	---	---	---	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547510	125547510	+	Silent	SNP	A	A	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:125547510A>G	ENST00000431078.1	+	18	3145	c.2781A>G	c.(2779-2781)ctA>ctG	p.L927L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	927	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGGCTTCCTAGGATGCATTC	0.463													11	34	---	---	---	---	0	0
UGGT1	56886	broad.mit.edu	37	2	128917179	128917179	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:128917179C>T	ENST00000375990.3	+	23	2778	c.2375C>T	c.(2374-2376)gCa>gTa	p.A792V	UGGT1_ENST00000259253.6_Missense_Mutation_p.A816V			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	816					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCAATCTGGGCAGCTCTCCAA	0.478													16	63	---	---	---	---	0	0
IGSF11	152404	broad.mit.edu	37	3	118621499	118621499	+	Silent	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr3:118621499G>A	ENST00000354673.2	-	9	1541	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	IGSF11_ENST00000491903.1_Silent_p.S360S|IGSF11_ENST00000489689.1_Silent_p.S364S|IGSF11_ENST00000393775.2_Silent_p.S388S|IGSF11_ENST00000425327.2_Silent_p.S387S|IGSF11_ENST00000441144.2_Silent_p.S363S	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	388					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGAGCCATTGCTCCTGGACA	0.527													14	40	---	---	---	---	0	0
WFS1	7466	broad.mit.edu	37	4	6302392	6302392	+	Silent	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr4:6302392G>A	ENST00000226760.1	+	8	1040	c.870G>A	c.(868-870)aaG>aaA	p.K290K	WFS1_ENST00000503569.1_Silent_p.K290K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	290					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGTGGTCAAGTACCCCCTGC	0.617													11	19	---	---	---	---	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95067675	95067675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr5:95067675G>T	ENST00000379982.3	+	2	623	c.115G>T	c.(115-117)Gag>Tag	p.E39*	RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Nonsense_Mutation_p.E39*	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	39	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CTCCGGGGACGAGAGCAGCTT	0.642													3	36	---	---	---	---	0	0
BAI3	577	broad.mit.edu	37	6	70071345	70071345	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr6:70071345G>A	ENST00000370598.1	+	29	5001	c.4180G>A	c.(4180-4182)Gat>Aat	p.D1394N	BAI3_ENST00000238918.8_Missense_Mutation_p.D600N|BAI3_ENST00000546190.1_Missense_Mutation_p.D358N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1394					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGAGTTGGATGATAATGCAGG	0.403													27	49	---	---	---	---	0	0
SYNE1	23345	broad.mit.edu	37	6	152453342	152453342	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr6:152453342G>A	ENST00000367255.5	-	144	26610	c.26009C>T	c.(26008-26010)tCt>tTt	p.S8670F	SYNE1_ENST00000341594.5_Missense_Mutation_p.S8282F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.S848F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8670F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000539504.1_Missense_Mutation_p.S825F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S3194F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8622F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8670	Ser-rich.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGACCAGGAAGACAAATCCTA	0.512										HNSCC(10;0.0054)			24	86	---	---	---	---	0	0
CA13	377677	broad.mit.edu	37	8	86163132	86163132	+	Silent	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr8:86163132C>T	ENST00000321764.3	+	2	503	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	67					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.F67F(2)		large_intestine(1)|lung(6)	7						GCCATTCCTTCAATGTTGACT	0.398													5	221	---	---	---	---	0	0
PSAT1	29968	broad.mit.edu	37	9	80923474	80923474	+	Silent	SNP	T	T	C			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr9:80923474T>C	ENST00000376588.3	+	6	783	c.715T>C	c.(715-717)Ttg>Ctg	p.L239L	PSAT1_ENST00000347159.2_Silent_p.L239L	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	239					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	AAACAGCTCCTTGTACAACAC	0.537													3	59	---	---	---	---	0	0
SETX	23064	broad.mit.edu	37	9	135153581	135153581	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr9:135153581T>G	ENST00000372169.2	-	21	6900	c.6718A>C	c.(6718-6720)Aat>Cat	p.N2240H	SETX_ENST00000224140.5_Missense_Mutation_p.N2240H|SETX_ENST00000393220.1_Missense_Mutation_p.N2240H			Q7Z333	SETX_HUMAN	senataxin	2240					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGTTCTACATTCTCTTCCAGC	0.453													16	77	---	---	---	---	0	0
DLG5	9231	broad.mit.edu	37	10	79571813	79571813	+	Silent	SNP	G	G	A			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:79571813G>A	ENST00000372391.2	-	22	4196	c.4191C>T	c.(4189-4191)ttC>ttT	p.F1397F	DLG5_ENST00000372388.2_Silent_p.F1057F|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1397	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TTATGCCGTTGAACTGGGGAA	0.647													10	43	---	---	---	---	0	0
LRIT1	26103	broad.mit.edu	37	10	85992631	85992631	+	Silent	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:85992631C>T	ENST00000372105.3	-	4	945	c.924G>A	c.(922-924)acG>acA	p.T308T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	308	Ig-like C2-type.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GAGTCCAGCTCGTGCCGTCAC	0.572													8	30	---	---	---	---	0	0
MORN4	118812	broad.mit.edu	37	10	99376049	99376049	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:99376049A>T	ENST00000335628.3	-	4	585	c.586T>A	c.(586-588)Tcc>Acc	p.S196T	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_3'UTR|MORN4_ENST00000307450.6_Missense_Mutation_p.S138T			Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	138										large_intestine(1)|lung(1)|stomach(2)	4						GCTGACTTGGAGGCGCTCTGG	0.532													3	32	---	---	---	---	0	0
SIDT2	51092	broad.mit.edu	37	11	117052521	117052521	+	Splice_Site	SNP	A	A	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr11:117052521A>G	ENST00000324225.4	+	3	836		c.e3-1		SIDT2_ENST00000431081.2_Splice_Site|SIDT2_ENST00000530948.1_Splice_Site	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2							integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTCGGGCCATAGGTTTCAGCG	0.592											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	55	---	---	---	---	0	0
ATN1	1822	broad.mit.edu	37	12	7048124	7048124	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr12:7048124C>G	ENST00000356654.4	+	7	3235	c.2998C>G	c.(2998-3000)Cga>Gga	p.R1000G	ATN1_ENST00000396684.2_Missense_Mutation_p.R1000G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1000					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCCCCTGGAGCGAGAACGTCT	0.682													22	84	---	---	---	---	0	0
CCER1	196477	broad.mit.edu	37	12	91347894	91347894	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr12:91347894C>T	ENST00000358859.2	-	1	1059	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CTCCTGCTGACGCTCCACCTT	0.647													12	95	---	---	---	---	0	0
MAP1A	4130	broad.mit.edu	37	15	43817506	43817506	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr15:43817506A>G	ENST00000382031.1	+	5	4580	c.4549A>G	c.(4549-4551)Atc>Gtc	p.I1517V	MAP1A_ENST00000399453.1_Missense_Mutation_p.I1279V|MAP1A_ENST00000300231.5_Missense_Mutation_p.I1279V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1279						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACAGACAGACATCACAGATGA	0.542													4	39	---	---	---	---	0	0
USP31	57478	broad.mit.edu	37	16	23116855	23116855	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr16:23116855G>C	ENST00000219689.7	-	5	995	c.996C>G	c.(994-996)caC>caG	p.H332Q		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	332					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCCTCATGCAGTGAGAACATT	0.433													6	60	---	---	---	---	0	0
ZNF420	147923	broad.mit.edu	37	19	37619569	37619569	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:37619569A>G	ENST00000337995.3	+	5	1891	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCATATCAATGTAAG	0.418													4	59	---	---	---	---	0	0
MIR519A2	0	broad.mit.edu	37	19	54265626	54265626	+	RNA	SNP	C	C	T	rs142071806	by1000genomes	TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:54265626C>T	ENST00000384990.1	+	0	29					NR_030222.1																						TACAGGGAAGCGCTTTCTGTT	0.408													27	115	---	---	---	---	0	0
LILRB3	11025	broad.mit.edu	37	19	54721088	54721088	+	Silent	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:54721088G>T	ENST00000391750.1	-	14	1906	c.1770C>A	c.(1768-1770)tcC>tcA	p.S590S	LILRB3_ENST00000245620.9_Silent_p.S591S|LILRA6_ENST00000419410.2_Silent_p.S591S|LILRB3_ENST00000424807.1_Silent_p.S590S|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Silent_p.S607S|LILRA6_ENST00000440558.2_Silent_p.S590S|LILRA6_ENST00000270464.5_Silent_p.S591S|LILRB3_ENST00000346401.6_Silent_p.S602S			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	590					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACATCCTGGGAGGCTTCAG	0.637													14	45	---	---	---	---	0	0
PTPRH	5794	broad.mit.edu	37	19	55693512	55693512	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:55693512C>T	ENST00000376350.3	-	19	3092	c.3070G>A	c.(3070-3072)Gtg>Atg	p.V1024M	PTPRH_ENST00000263434.5_Missense_Mutation_p.V846M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1024	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GTGCGACCCACGCCAGCACTA	0.587													17	64	---	---	---	---	0	0
ZNF471	57573	broad.mit.edu	37	19	57036932	57036932	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:57036932G>T	ENST00000308031.5	+	5	1629	c.1496G>T	c.(1495-1497)aGt>aTt	p.S499I	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTTAGAATCAGTTCACAGCTG	0.378													17	45	---	---	---	---	0	0
SSX3	10214	broad.mit.edu	37	X	48207020	48207020	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chrX:48207020A>T	ENST00000298396.2	-	7	538	c.486T>A	c.(484-486)caT>caA	p.H162Q	SSX3_ENST00000376895.1_Missense_Mutation_p.H74Q	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						GGGTCCAGGCATGTTCCCCCC	0.478													66	112	---	---	---	---	0	0
CLSTN1	22883	broad.mit.edu	37	1	9804060	9804060	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:9804060A>T	ENST00000377298.4	-	9	2030	c.1238T>A	c.(1237-1239)aTg>aAg	p.M413K	CLSTN1_ENST00000361311.4_Missense_Mutation_p.M403K|CLSTN1_ENST00000377288.3_Missense_Mutation_p.M413K	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	413					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCCGATTCATATCTGCAAA	0.438													24	33	---	---	---	---	0	0
POMGNT1	55624	broad.mit.edu	37	1	46663480	46663480	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:46663480T>G	ENST00000396420.3	-	2	650	c.14A>C	c.(13-15)aAg>aCg	p.K5T	POMGNT1_ENST00000371986.3_Missense_Mutation_p.K5T|POMGNT1_ENST00000371992.1_Missense_Mutation_p.K5T|POMGNT1_ENST00000371984.3_Missense_Mutation_p.K5T			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	5					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GGGGCTGGGCTTCCAGTCGTC	0.582													32	44	---	---	---	---	0	0
OLFML3	56944	broad.mit.edu	37	1	114524076	114524076	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:114524076T>G	ENST00000369551.1	+	4	1134	c.846T>G	c.(844-846)gaT>gaG	p.D282E	OLFML3_ENST00000320334.4_Missense_Mutation_p.D302E|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.D282E			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	302	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAAGTTAGATCCACAGACAC	0.547													12	54	---	---	---	---	0	0
TBX15	6913	broad.mit.edu	37	1	119428032	119428032	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:119428032C>G	ENST00000369429.3	-	8	1141	c.1132G>C	c.(1132-1134)Gcc>Ccc	p.A378P	TBX15_ENST00000207157.3_Missense_Mutation_p.A272P			Q96SF7	TBX15_HUMAN	T-box 15	378						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTGTTGGGGGCCAGATGAAAA	0.522													6	32	---	---	---	---	0	0
GPA33	10223	broad.mit.edu	37	1	167038355	167038355	+	Silent	SNP	C	C	T	rs144380186	byFrequency	TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:167038355C>T	ENST00000367868.3	-	3	562	c.219G>A	c.(217-219)ccG>ccA	p.P73P	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	73	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTTTGAAAACGGCCAGATGA	0.507													13	19	---	---	---	---	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186925324	186925324	+	Nonsense_Mutation	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:186925324C>G	ENST00000367466.3	+	14	1579	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*	PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.S416*	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	476	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GTGAGTGATTCAGCTTTATTC	0.418													22	30	---	---	---	---	0	0
PTPRC	5788	broad.mit.edu	37	1	198713285	198713285	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:198713285A>C	ENST00000367376.2	+	26	2965	c.2794A>C	c.(2794-2796)Aaa>Caa	p.K932Q	PTPRC_ENST00000594404.1_Missense_Mutation_p.K771Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.K884Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.K773Q|PTPRC_ENST00000442510.2_Missense_Mutation_p.K934Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	932					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAACATGAAGAAAAGGGATCC	0.378													15	21	---	---	---	---	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212515567	212515567	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:212515567C>G	ENST00000261461.2	+	4	1092	c.518C>G	c.(517-519)cCt>cGt	p.P173R	PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.P116R	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	173					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTGGAGAGCCCTGATTTCCAG	0.348													48	72	---	---	---	---	0	0
SMYD2	56950	broad.mit.edu	37	1	214491465	214491465	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:214491465T>C	ENST00000366957.5	+	4	414	c.392T>C	c.(391-393)gTg>gCg	p.V131A	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.V131A	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	131	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TTGTTAGCTGTGAAGGAGTTT	0.448													31	52	---	---	---	---	0	0
USH2A	7399	broad.mit.edu	37	1	216251433	216251433	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:216251433T>G	ENST00000366943.2	-	27	5956	c.5570A>C	c.(5569-5571)cAa>cCa	p.Q1857P	USH2A_ENST00000307340.3_Missense_Mutation_p.Q1857P|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1857	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAACTTACCTTGTTCCAAACA	0.458										HNSCC(13;0.011)			31	35	---	---	---	---	0	0
SEC22A	26984	broad.mit.edu	37	3	122990559	122990559	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:122990559A>C	ENST00000309934.4	+	6	1810	c.914A>C	c.(913-915)tAt>tCt	p.Y305S	SEC22A_ENST00000481965.2_3'UTR|SEC22A_ENST00000492595.1_Missense_Mutation_p.Y305S	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	305					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		GCTCCCGATTATGATGTCTGA	0.493													14	22	---	---	---	---	0	0
PIK3CB	5291	broad.mit.edu	37	3	138417865	138417865	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:138417865C>T	ENST00000477593.1	-	12	1727	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	PIK3CB_ENST00000544716.1_5'UTR|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E552K			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	552	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E552K(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATTTCATTTTCACACAGTTGA	0.373													7	71	---	---	---	---	0	0
GSX2	170825	broad.mit.edu	37	4	54966544	54966544	+	Silent	SNP	C	C	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr4:54966544C>A	ENST00000326902.2	+	1	347	c.33C>A	c.(31-33)atC>atA	p.I11I	GSX2_ENST00000503800.1_Silent_p.I11I|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	11						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			ACTCGCTCATCATCAAGGACA	0.642													3	29	---	---	---	---	0	0
AC026703.1	0	broad.mit.edu	37	5	32789763	32789763	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr5:32789763C>T	ENST00000326958.1	+	1	819	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	NPR3_ENST00000265074.8_3'UTR																							TTACTCAAGGCACATGTGCCT	0.408													4	126	---	---	---	---	0	0
GPR110	266977	broad.mit.edu	37	6	46973590	46973590	+	Silent	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:46973590C>T	ENST00000371253.2	-	13	2771	c.2556G>A	c.(2554-2556)aaG>aaA	p.K852K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.K655K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	852					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGCAGACAACTTGTTGAACA	0.373													15	20	---	---	---	---	0	0
SMPD2	6610	broad.mit.edu	37	6	109762786	109762786	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:109762786G>A	ENST00000258052.3	+	3	538	c.179G>A	c.(178-180)aGa>aAa	p.R60K		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	60					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CAGTACCTGAGACAGAAGCTG	0.607													35	42	---	---	---	---	0	0
KIF25	0	broad.mit.edu	37	6	168440860	168440860	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:168440860G>A	ENST00000443060.2	+	7	1001	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	KIF25_ENST00000351261.3_Missense_Mutation_p.V204M|KIF25_ENST00000354419.2_Missense_Mutation_p.V204M			Q9UIL4	KIF25_HUMAN	kinesin family member 25	204	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GATAATTACGGTGACTCTAAC	0.507													11	18	---	---	---	---	0	0
CHST12	55501	broad.mit.edu	37	7	2473422	2473422	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:2473422A>G	ENST00000258711.6	+	2	1283	c.1148A>G	c.(1147-1149)aAg>aGg	p.K383R		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	383					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGGTTCGCCAAGATCCCCCTG	0.627													28	27	---	---	---	---	0	0
TRBV6-1	0	broad.mit.edu	37	7	142028602	142028602	+	RNA	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:142028602C>G	ENST00000390353.2	+	0	393																											TCTGTGCCAGCAGTGAAGCCA	0.587													40	65	---	---	---	---	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110479773	110479773	+	Splice_Site	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr11:110479773C>T	ENST00000260283.4	-	9	994	c.710G>A	c.(709-711)gGc>gAc	p.G237D	ARHGAP20_ENST00000533353.1_Splice_Site_p.G211D|ARHGAP20_ENST00000528829.1_Splice_Site_p.G201D|ARHGAP20_ENST00000527598.1_Splice_Site_p.G201D|ARHGAP20_ENST00000524756.1_Splice_Site_p.G214D|ARHGAP20_ENST00000357139.3_Splice_Site_p.G211D	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	237	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTCTCAGAGCCCTTAGAGAT	0.373													51	65	---	---	---	---	0	0
POTEG	404785	broad.mit.edu	37	14	19553754	19553754	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr14:19553754G>A	ENST00000409832.3	+	1	390	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	113										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGGGGAGCGGCAAGAGCAAA	0.597													5	609	---	---	---	---	0	0
OR4L1	122742	broad.mit.edu	37	14	20528658	20528658	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr14:20528658G>T	ENST00000315683.1	+	1	455	c.455G>T	c.(454-456)gGt>gTt	p.G152V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGGATAATTGGTTTTTTACAC	0.403													48	34	---	---	---	---	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64464144	64464144	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr15:64464144G>A	ENST00000303052.7	-	12	1678	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	CSNK1G1_ENST00000607537.1_Intron	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	419					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTGTGGCGCTGAGCAGTCTTC	0.547													38	68	---	---	---	---	0	0
RBL2	5934	broad.mit.edu	37	16	53487463	53487463	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr16:53487463A>G	ENST00000262133.6	+	6	1003	c.866A>G	c.(865-867)gAa>gGa	p.E289G	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.E73G	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	289					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTAGTTTTGGAAGCAAAGGGG	0.358													19	76	---	---	---	---	0	0
PRSS54	221191	broad.mit.edu	37	16	58314536	58314536	+	Silent	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr16:58314536G>A	ENST00000219301.4	-	7	1174	c.780C>T	c.(778-780)taC>taT	p.Y260Y	PRSS54_ENST00000567164.1_Silent_p.Y260Y|PRSS54_ENST00000543437.1_Silent_p.Y161Y|CCDC113_ENST00000443128.2_3'UTR|CCDC113_ENST00000219299.4_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	260	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCATTTGCTGTAGTCTTCCA	0.547													15	11	---	---	---	---	0	0
ADPRM	56985	broad.mit.edu	37	17	10614356	10614356	+	Silent	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:10614356C>G	ENST00000379774.4	+	4	1015	c.924C>G	c.(922-924)gcC>gcG	p.A308A	ADPRM_ENST00000609540.1_3'UTR	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		ACAGCCAAGCCTTTGGCACAG	0.438													25	20	---	---	---	---	0	0
KRT28	162605	broad.mit.edu	37	17	38956166	38956166	+	Translation_Start_Site	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:38956166C>T	ENST00000306658.7	-	0	45					NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28							cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GAAATGTTCACCTTGTCTATG	0.398													12	15	---	---	---	---	0	0
SLC16A6	9120	broad.mit.edu	37	17	66274395	66274395	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:66274395A>G	ENST00000327268.4	-	3	231	c.67T>C	c.(67-69)Tgg>Cgg	p.W23R	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.W23R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	23						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GCCCAGCCCCATCCTCCATCA	0.378													29	38	---	---	---	---	0	0
GPR32	2854	broad.mit.edu	37	19	51274218	51274218	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:51274218G>T	ENST00000270590.4	+	1	498	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	121						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CATCACCTTTGTGTTCCTCAG	0.537													36	27	---	---	---	---	0	0
LILRB1	0	broad.mit.edu	37	19	55143638	55143638	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:55143638C>T	ENST00000396331.1	+	6	968	c.611C>T	c.(610-612)tCt>tTt	p.S204F	LILRB1_ENST00000396327.3_Missense_Mutation_p.S204F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S204F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S204F|LILRB1_ENST00000448689.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396317.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S204F|LILRB1_ENST00000418536.2_Missense_Mutation_p.S204F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S240F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	204	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GACTCGAACTCTCCCTATGAG	0.602										HNSCC(37;0.09)			14	60	---	---	---	---	0	0
NRIP1	8204	broad.mit.edu	37	21	16339649	16339649	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr21:16339649T>C	ENST00000400202.1	-	3	1577	c.865A>G	c.(865-867)Aat>Gat	p.N289D	NRIP1_ENST00000400199.1_Missense_Mutation_p.N289D|NRIP1_ENST00000318948.4_Missense_Mutation_p.N289D			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	289	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGATTTGCATTTTGCGTTTTT	0.448													32	54	---	---	---	---	0	0
PRDM15	63977	broad.mit.edu	37	21	43230589	43230589	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr21:43230589G>A	ENST00000422911.1	-	22	2845	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	PRDM15_ENST00000269844.3_Missense_Mutation_p.A1224V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A858V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A878V|PRDM15_ENST00000398548.1_Missense_Mutation_p.A895V|PRDM15_ENST00000470586.1_5'UTR	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCAGCTCTGCGCCTCCACCTT	0.627													4	29	---	---	---	---	0	0
PI4KA	5297	broad.mit.edu	37	22	21097023	21097023	+	Silent	SNP	G	G	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr22:21097023G>T	ENST00000255882.6	-	31	3572	c.3486C>A	c.(3484-3486)acC>acA	p.T1162T	PI4KA_ENST00000572273.1_Silent_p.T1104T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1104					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTGGCCTGTGGTGCCTGAGA	0.478													15	76	---	---	---	---	0	0
USP9X	8239	broad.mit.edu	37	X	41082490	41082490	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chrX:41082490C>T	ENST00000324545.8	+	39	7219	c.6586C>T	c.(6586-6588)Ctt>Ttt	p.L2196F	USP9X_ENST00000378308.2_Missense_Mutation_p.L2196F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAGACACAGCTTCTGAAATT	0.398													34	5	---	---	---	---	0	0
DNAJB4	11080	broad.mit.edu	37	1	78478968	78478968	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:78478968G>T	ENST00000370763.5	+	2	702	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	149					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CAGGAATTCTGTGGGGCCATC	0.413													20	68	---	---	---	---	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056908	120056908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:120056908C>A	ENST00000235547.6	+	4	907	c.768C>A	c.(766-768)taC>taA	p.Y256*	HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.Y254*|HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.Y254*	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	254					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GACAGTTCTACTATATCTCAG	0.522													18	62	---	---	---	---	0	0
TARS2	80222	broad.mit.edu	37	1	150468986	150468986	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:150468986G>T	ENST00000369064.3	+	8	837	c.803G>T	c.(802-804)gGg>gTg	p.G268V	TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	268					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AGGTCTTCAGGGGCCCCAGAG	0.517													7	102	---	---	---	---	0	0
CLK2	1196	broad.mit.edu	37	1	155239353	155239353	+	Missense_Mutation	SNP	G	G	A	rs139555196		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:155239353G>A	ENST00000368361.4	-	3	640	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	CLK2_ENST00000361168.5_Missense_Mutation_p.R109C|CLK2_ENST00000536801.1_Missense_Mutation_p.R109C|CLK2_ENST00000355560.4_Missense_Mutation_p.R108C			P49760	CLK2_HUMAN	CDC-like kinase 2	109						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R109S(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCTGGCTGCGGTAACTGCTG	0.592								Other conserved DNA damage response genes					4	103	---	---	---	---	0	0
TPR	7175	broad.mit.edu	37	1	186326600	186326600	+	Silent	SNP	T	T	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:186326600T>C	ENST00000367478.4	-	14	1949	c.1653A>G	c.(1651-1653)caA>caG	p.Q551Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTAAGAGACGTTGATTTTGTT	0.388			T	NTRK1	papillary thyroid								11	46	---	---	---	---	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649718	232649718	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:232649718G>A	ENST00000366630.1	-	2	1726	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	SIPA1L2_ENST00000262861.4_Silent_p.S456S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	456					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.S456S(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTCCAAGACGGAGACACCTG	0.493													4	137	---	---	---	---	0	0
OTOF	9381	broad.mit.edu	37	2	26689990	26689990	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:26689990C>T	ENST00000272371.2	-	35	4465	c.4339G>A	c.(4339-4341)Gag>Aag	p.E1447K	OTOF_ENST00000339598.3_Missense_Mutation_p.E680K|OTOF_ENST00000402415.3_Missense_Mutation_p.E757K|OTOF_ENST00000403946.3_Missense_Mutation_p.E1447K|OTOF_ENST00000338581.6_Missense_Mutation_p.E680K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1447					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAATGCGCTCCTCCTCGGTG	0.627													9	29	---	---	---	---	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373													4	296	---	---	---	---	0	0
TLK1	9874	broad.mit.edu	37	2	171902685	171902685	+	Splice_Site	SNP	G	G	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:171902685G>C	ENST00000442919.2	-	11	1639	c.1024C>G	c.(1024-1026)Ctg>Gtg	p.L342V	TLK1_ENST00000360843.3_Splice_Site_p.L411V|TLK1_ENST00000431350.2_Splice_Site_p.L390V|TLK1_ENST00000434911.2_Splice_Site_p.L294V|TLK1_ENST00000521943.1_Splice_Site_p.L342V	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	390					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GAGGCTTACAGTTGTGGTAAA	0.333													4	78	---	---	---	---	0	0
COL4A4	1286	broad.mit.edu	37	2	227924243	227924243	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:227924243C>T	ENST00000396625.3	-	28	2468	c.2261G>A	c.(2260-2262)gGt>gAt	p.G754D	COL4A4_ENST00000329662.7_Missense_Mutation_p.G754D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	754	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTTTCTGACCATTCACTCC	0.587													19	39	---	---	---	---	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916185	42916185	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr3:42916185A>T	ENST00000316161.4	-	1	1448	c.1124T>A	c.(1123-1125)cTg>cAg	p.L375Q	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L375Q	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	375					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		ATGGCGGAACAGATACTCCTG	0.582													17	45	---	---	---	---	0	0
PLCH1	23007	broad.mit.edu	37	3	155205833	155205833	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr3:155205833T>C	ENST00000460012.1	-	21	2870	c.2513A>G	c.(2512-2514)aAt>aGt	p.N838S	PLCH1_ENST00000414191.1_Missense_Mutation_p.N838S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N838S|PLCH1_ENST00000340059.7_Missense_Mutation_p.N856S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N856S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N856S			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	856					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATAGATTTCATTGATGGTTAT	0.338													14	25	---	---	---	---	0	0
G3BP2	9908	broad.mit.edu	37	4	76579226	76579226	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr4:76579226G>A	ENST00000359707.4	-	8	1551	c.766C>T	c.(766-768)Cct>Tct	p.P256S	G3BP2_ENST00000395719.3_Missense_Mutation_p.P256S|G3BP2_ENST00000357854.3_Intron	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	256					cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTACCACTAGGAGGCAGGTTT	0.443													3	12	---	---	---	---	0	0
SPARCL1	8404	broad.mit.edu	37	4	88401672	88401672	+	Splice_Site	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr4:88401672C>T	ENST00000418378.1	-	10	2240	c.1669G>A	c.(1669-1671)Gtc>Atc	p.V557I	SPARCL1_ENST00000282470.6_Splice_Site_p.V557I|SPARCL1_ENST00000503414.1_Splice_Site_p.V432I	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	557					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ATTTTCTTGACCTGGGATTAG	0.398													20	49	---	---	---	---	0	0
BYSL	705	broad.mit.edu	37	6	41900430	41900430	+	Missense_Mutation	SNP	A	A	T	rs144306191	by1000genomes	TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:41900430A>T	ENST00000230340.4	+	7	1675	c.1300A>T	c.(1300-1302)Atc>Ttc	p.I434F		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	434					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGATGTTCCCATCACCGTGGA	0.557													8	15	---	---	---	---	0	0
VGLL2	245806	broad.mit.edu	37	6	117589488	117589488	+	Silent	SNP	A	A	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:117589488A>C	ENST00000326274.5	+	2	415	c.225A>C	c.(223-225)ccA>ccC	p.P75P	VGLL2_ENST00000352536.3_Silent_p.P75P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	75					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AAGAGCGCCCACCAGAGGCAG	0.577													13	102	---	---	---	---	0	0
TAAR2	9287	broad.mit.edu	37	6	132939259	132939259	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:132939259C>T	ENST00000367931.1	-	2	85	c.86G>A	c.(85-87)gGa>gAa	p.G29E	TAAR2_ENST00000275191.2_5'UTR|TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	29						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGATCTATTTCCATATTCAGA	0.308													4	70	---	---	---	---	0	0
EPM2A	7957	broad.mit.edu	37	6	145956563	145956563	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:145956563T>A	ENST00000367519.3	-	3	1061	c.536A>T	c.(535-537)aAa>aTa	p.K179I	EPM2A_ENST00000496228.1_5'UTR	NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	179					glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		ATGCTTCAGTTTGATGGTTAC	0.438													33	71	---	---	---	---	0	0
AEBP1	165	broad.mit.edu	37	7	44152662	44152662	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr7:44152662C>A	ENST00000223357.3	+	19	2947	c.2642C>A	c.(2641-2643)cCt>cAt	p.P881H	AEBP1_ENST00000450684.2_Missense_Mutation_p.P456H	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	881	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GACAAGTTCCCTCATGAGAGT	0.577													6	238	---	---	---	---	0	0
CCT6P3	0	broad.mit.edu	37	7	64525465	64525465	+	RNA	SNP	T	T	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr7:64525465T>G	ENST00000426828.1	+	0	295					NR_033416.1																						TCCAACGTCCTAATCATTGGA	0.398													39	80	---	---	---	---	0	0
RAD21	5885	broad.mit.edu	37	8	117859877	117859877	+	Silent	SNP	T	T	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr8:117859877T>G	ENST00000297338.2	-	14	2045	c.1758A>C	c.(1756-1758)cgA>cgC	p.R586R	RAD21_ENST00000523986.1_Silent_p.R90R|RAD21_ENST00000517749.1_Silent_p.R24R|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron|RAD21_ENST00000518055.1_Silent_p.R131R	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	586					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGTTCGTATTTCGACATAACT	0.388													9	62	---	---	---	---	0	0
NOL6	65083	broad.mit.edu	37	9	33468419	33468419	+	Splice_Site	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr9:33468419G>A	ENST00000379471.2	-	10	1295	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	NOL6_ENST00000455041.2_Splice_Site_p.P343L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	403					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGCCAGGGCCGGCTTGGGGGG	0.577													6	17	---	---	---	---	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882195	7882195	+	Missense_Mutation	SNP	T	T	C	rs147980423		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr12:7882195T>C	ENST00000542353.1	-	7	1129	c.639A>G	c.(637-639)atA>atG	p.I213M	CLEC4C_ENST00000354629.5_Missense_Mutation_p.I182M|CLEC4C_ENST00000360345.3_Missense_Mutation_p.I213M|CLEC4C_ENST00000540085.1_Missense_Mutation_p.I182M	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	213					innate immune response	integral to membrane	sugar binding	p.I213M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		ATTTCATTTATATGTAGATCT	0.353													5	38	---	---	---	---	0	0
CCNA1	8900	broad.mit.edu	37	13	37014263	37014263	+	Silent	SNP	T	T	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr13:37014263T>C	ENST00000418263.1	+	6	1388	c.1038T>C	c.(1036-1038)ttT>ttC	p.F346F	CCNA1_ENST00000255465.4_Silent_p.F347F|CCNA1_ENST00000440264.1_Silent_p.F303F|CCNA1_ENST00000449823.1_Silent_p.F303F	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	347					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCAACCAGTTTCTCCTTCAGT	0.458													28	86	---	---	---	---	0	0
TRMT61A	115708	broad.mit.edu	37	14	104000981	104000981	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr14:104000981G>A	ENST00000389749.4	+	4	800	c.693G>A	c.(691-693)ctG>ctA	p.L231L		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	231						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						TGAGCACCCTGGAGGTGCTGC	0.682													13	11	---	---	---	---	0	0
IGHG2	0	broad.mit.edu	37	14	106110960	106110960	+	RNA	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr14:106110960G>A	ENST00000390545.2	-	0	167																											AGGACTGTAGGACAGCCGGGA	0.632													11	45	---	---	---	---	0	0
GRIN2A	0	broad.mit.edu	37	16	9857616	9857616	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr16:9857616G>C	ENST00000396573.2	-	14	4094	c.3785C>G	c.(3784-3786)aCc>aGc	p.T1262S	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1262S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1262S|GRIN2A_ENST00000562109.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1262					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGCTCCCCGGTGGCTGGGTT	0.522													3	81	---	---	---	---	0	0
OR1D2	4991	broad.mit.edu	37	17	2995484	2995484	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:2995484C>A	ENST00000331459.1	-	1	806	c.807G>T	c.(805-807)aaG>aaT	p.K269N		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	269					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CTACTGAGTCCTTCACAGAGT	0.512													4	62	---	---	---	---	0	0
DNAH2	146754	broad.mit.edu	37	17	7680790	7680790	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:7680790A>C	ENST00000572933.1	+	33	6545	c.5085A>C	c.(5083-5085)gaA>gaC	p.E1695D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1695D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1695	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTATTCAGAAGCCATCAGGG	0.498													18	322	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			39	85	---	---	---	---	0	0
ACTG1	71	broad.mit.edu	37	17	79478956	79478956	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:79478956G>A	ENST00000575842.1	-	2	762	c.336C>T	c.(334-336)ccC>ccT	p.P112P	ACTG1_ENST00000573283.1_Silent_p.P112P|ACTG1_ENST00000575087.1_Silent_p.P112P|ACTG1_ENST00000331925.2_Silent_p.P112P			P63261	ACTG_HUMAN	actin, gamma 1	112					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGTTGGCCTTGGGGTTCAGGG	0.622													19	38	---	---	---	---	0	0
CATSPERD	257062	broad.mit.edu	37	19	5751816	5751816	+	Silent	SNP	C	C	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:5751816C>G	ENST00000381624.3	+	12	1207	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	CATSPERD_ENST00000381614.2_Silent_p.L40L	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	382						integral to membrane											ACCCTGAACTCCACGTTGGAA	0.468													9	57	---	---	---	---	0	0
MUC16	94025	broad.mit.edu	37	19	9086501	9086501	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:9086501C>T	ENST00000397910.4	-	1	5517	c.5314G>A	c.(5314-5316)Gag>Aag	p.E1772K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1772	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTGACCTCCTTGGTCCAA	0.493													25	57	---	---	---	---	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610375	38610375	+	Silent	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:38610375G>A	ENST00000222345.6	+	9	3230	c.2721G>A	c.(2719-2721)gtG>gtA	p.V907V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	907					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAAGGAGGTGGTGTTCAACT	0.542													6	98	---	---	---	---	0	0
ZNF836	162962	broad.mit.edu	37	19	52658800	52658800	+	Silent	SNP	A	A	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:52658800A>G	ENST00000322146.8	-	5	2657	c.2136T>C	c.(2134-2136)taT>taC	p.Y712Y	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.Y712Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATTTCTGTGATATCTTGCAA	0.398													7	56	---	---	---	---	0	0
PLCB4	5332	broad.mit.edu	37	20	9388600	9388600	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr20:9388600G>T	ENST00000378501.2	+	18	1663	c.1648G>T	c.(1648-1650)Gca>Tca	p.A550S	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.A550S|PLCB4_ENST00000414679.2_Missense_Mutation_p.A562S|PLCB4_ENST00000334005.3_Missense_Mutation_p.A550S|PLCB4_ENST00000278655.4_Missense_Mutation_p.A550S|PLCB4_ENST00000378473.3_Missense_Mutation_p.A562S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	550					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCGTGGATGGCATCTTATAA	0.448													26	96	---	---	---	---	0	0
SSX5	6758	broad.mit.edu	37	X	48053626	48053626	+	Silent	SNP	A	A	G			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:48053626A>G	ENST00000311798.1	-	5	394	c.342T>C	c.(340-342)aaT>aaC	p.N114N	SSX5_ENST00000347757.1_Silent_p.N73N|SSX5_ENST00000376923.1_Silent_p.N73N	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CGACCCGTTTATTACGCATGA	0.483													27	25	---	---	---	---	0	0
ATP7A	538	broad.mit.edu	37	X	77264645	77264645	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:77264645G>A	ENST00000341514.6	+	7	1909	c.1754G>A	c.(1753-1755)aGt>aAt	p.S585N	ATP7A_ENST00000343533.5_Missense_Mutation_p.S585N|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	585	HMA 6.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ATAGAGTCTAGTCTCACAAAA	0.408													5	142	---	---	---	---	0	0
GPR112	139378	broad.mit.edu	37	X	135426829	135426829	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:135426829T>A	ENST00000394143.1	+	6	1255	c.964T>A	c.(964-966)Tca>Aca	p.S322T	GPR112_ENST00000412101.1_Missense_Mutation_p.S117T|GPR112_ENST00000287534.4_Missense_Mutation_p.S259T|GPR112_ENST00000370652.1_Missense_Mutation_p.S322T|GPR112_ENST00000394141.1_Missense_Mutation_p.S117T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	322					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCAACTTCATCAGCCATCTC	0.383													23	22	---	---	---	---	0	0
CNTN2	6900	broad.mit.edu	37	1	205033529	205033529	+	Silent	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:205033529C>T	ENST00000331830.4	+	11	1604	c.1320C>T	c.(1318-1320)tgC>tgT	p.C440C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	440	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTATCCCCTGCCAGCCCCGGG	0.637													4	185	---	---	---	---	0	0
POTEF	728378	broad.mit.edu	37	2	130877697	130877697	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr2:130877697G>A	ENST00000357462.5	-	1	485	c.392C>T	c.(391-393)cCc>cTc	p.P131L	POTEF_ENST00000409914.2_Missense_Mutation_p.P131L|POTEF_ENST00000360967.5_Missense_Mutation_p.P131L|POTEF_ENST00000361163.4_Missense_Mutation_p.P131L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	131						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTGGTACCTGGGCTCCATGAA	0.592													38	60	---	---	---	---	0	0
POTEE	445582	broad.mit.edu	37	2	131976367	131976367	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr2:131976367C>T	ENST00000356920.5	+	1	486	c.392C>T	c.(391-393)cCc>cTc	p.P131L	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P131L	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	131							ATP binding										TTCATGGAGCCCAGGTACCAC	0.602													5	96	---	---	---	---	0	0
DCHS2	54798	broad.mit.edu	37	4	155253687	155253687	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr4:155253687G>T	ENST00000357232.4	-	9	2175	c.2176C>A	c.(2176-2178)Cag>Aag	p.Q726K	DCHS2_ENST00000339452.1_Missense_Mutation_p.Q1225K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TATAATAGCTGTCCATTCTTT	0.383													35	37	---	---	---	---	0	0
PDZD2	23037	broad.mit.edu	37	5	32069683	32069683	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr5:32069683G>T	ENST00000438447.1	+	15	2848	c.2460G>T	c.(2458-2460)gaG>gaT	p.E820D	PDZD2_ENST00000282493.3_Missense_Mutation_p.E820D			O15018	PDZD2_HUMAN	PDZ domain containing 2	820					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGGTTTCCGAGCAGGAAATGG	0.413													5	35	---	---	---	---	0	0
COL19A1	1310	broad.mit.edu	37	6	70854121	70854121	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr6:70854121G>A	ENST00000322773.4	+	24	1748	c.1646G>A	c.(1645-1647)gGt>gAt	p.G549D	COL19A1_ENST00000393344.1_Missense_Mutation_p.G171D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	549	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAGAACATGGTATCCCAGGA	0.358													5	160	---	---	---	---	0	0
SRSF12	135295	broad.mit.edu	37	6	89814872	89814872	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr6:89814872C>T	ENST00000452027.2	-	4	575	c.382G>A	c.(382-384)Gga>Aga	p.G128R		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	128	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						CTATTTCTTCCCCATGAAGAA	0.383													4	11	---	---	---	---	0	0
EGFR	1956	broad.mit.edu	37	7	55268923	55268923	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr7:55268923T>G	ENST00000275493.2	+	25	3166	c.2989T>G	c.(2989-2991)Ttc>Gtc	p.F997V	EGFR_ENST00000454757.2_Missense_Mutation_p.F944V|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.F952V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	997					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGACTCCAACTTCTACCGTGC	0.522		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			38	71	---	---	---	---	0	0
ABRA	137735	broad.mit.edu	37	8	107782091	107782091	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr8:107782091A>G	ENST00000311955.3	-	1	382	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	110					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ACCGTTTTGGACACCTCTTTC	0.562													5	61	---	---	---	---	0	0
SORCS1	114815	broad.mit.edu	37	10	108469017	108469017	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr10:108469017G>T	ENST00000263054.6	-	7	1114	c.1107C>A	c.(1105-1107)gaC>gaA	p.D369E	SORCS1_ENST00000344440.6_Missense_Mutation_p.D369E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	369						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAATCAAAGAGTCTGGGTCAA	0.388													30	49	---	---	---	---	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955897	18955897	+	Silent	SNP	C	C	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr11:18955897C>G	ENST00000302797.3	-	1	659	c.435G>C	c.(433-435)ctG>ctC	p.L145L	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	145					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGGCCCAGAGCAGGACACACA	0.597													28	25	---	---	---	---	0	0
MEDAG	84935	broad.mit.edu	37	13	31498491	31498491	+	Silent	SNP	A	A	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr13:31498491A>T	ENST00000380482.4	+	5	1156	c.831A>T	c.(829-831)tcA>tcT	p.S277S	TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586464.1_RNA	NM_032849.3	NP_116238			mesenteric estrogen-dependent adipogenesis									p.S277S(1)									CACCCAGATCATCTCTGACAG	0.363													31	52	---	---	---	---	0	0
VWA8	23078	broad.mit.edu	37	13	42267091	42267091	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr13:42267091C>A	ENST00000379310.3	-	30	3650	c.3582G>T	c.(3580-3582)ttG>ttT	p.L1194F	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TAGTATCTAACAACAGGATAA	0.383													10	23	---	---	---	---	0	0
KDM4B	23030	broad.mit.edu	37	19	5039897	5039897	+	Silent	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:5039897C>T	ENST00000159111.4	+	4	410	c.192C>T	c.(190-192)gaC>gaT	p.D64D	KDM4B_ENST00000381759.4_Silent_p.D64D|KDM4B_ENST00000536461.1_Silent_p.D64D	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	64					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATGACATCGACGACGTGGTGA	0.612													23	56	---	---	---	---	0	0
ZNF676	163223	broad.mit.edu	37	19	22363305	22363305	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:22363305G>A	ENST00000397121.2	-	3	1531	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GAGCTTTGAGGATGAGTTGGA	0.423													50	73	---	---	---	---	0	0
SERINC3	10955	broad.mit.edu	37	20	43142587	43142587	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr20:43142587A>C	ENST00000342374.4	-	2	291	c.134T>G	c.(133-135)aTt>aGt	p.I45S	SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.I45S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	45						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CAGGAGGAGAATGAAAGCATA	0.448													30	49	---	---	---	---	0	0
ABCG1	9619	broad.mit.edu	37	21	43706090	43706090	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr21:43706090A>G	ENST00000398437.1	+	9	1545	c.1397A>G	c.(1396-1398)aAc>aGc	p.N466S	ABCG1_ENST00000340588.4_Missense_Mutation_p.N428S|ABCG1_ENST00000398449.3_Missense_Mutation_p.N320S|ABCG1_ENST00000347800.2_Missense_Mutation_p.N317S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.N331S|ABCG1_ENST00000398457.2_Missense_Mutation_p.N322S|ABCG1_ENST00000361802.2_Missense_Mutation_p.N320S			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	320	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ACCTACCACAACCCAGCAGAT	0.517													74	81	---	---	---	---	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121968	38121968	+	Silent	SNP	A	A	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr22:38121968A>G	ENST00000406386.3	+	7	3660	c.3405A>G	c.(3403-3405)ttA>ttG	p.L1135L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1135					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTTCCCTCTTATTCCAGGACC	0.642													40	49	---	---	---	---	0	0
MXRA5	25878	broad.mit.edu	37	X	3238698	3238698	+	Silent	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrX:3238698C>T	ENST00000217939.6	-	5	5182	c.5028G>A	c.(5026-5028)ttG>ttA	p.L1676L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1676						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGACATGTGCAATGGGAGAG	0.418													14	141	---	---	---	---	0	0
PIK3CD	5293	broad.mit.edu	37	1	9776098	9776098	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:9776098C>T	ENST00000536656.1	+	5	770	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R188W|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R188W			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	188					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCCCGAACCGGGCCCTTCT	0.657													6	16	---	---	---	---	0	0
NBPF1	55672	broad.mit.edu	37	1	16893756	16893756	+	Silent	SNP	T	T	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:16893756T>C	ENST00000430580.2	-	25	3644	c.2757A>G	c.(2755-2757)gaA>gaG	p.E919E	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	919	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTCAGTCAGTTCAAGATAAC	0.488													26	2935	---	---	---	---	0	0
FLG	2312	broad.mit.edu	37	1	152277018	152277018	+	Silent	SNP	G	G	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:152277018G>A	ENST00000368799.1	-	3	10379	c.10344C>T	c.(10342-10344)tcC>tcT	p.S3448S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3448	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCGTAGTGGGATCCCTGCC	0.602									Ichthyosis				45	359	---	---	---	---	0	0
CACNA1E	777	broad.mit.edu	37	1	181546961	181546961	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:181546961C>A	ENST00000526775.1	+	4	737	c.572C>A	c.(571-573)gCt>gAt	p.A191D	CACNA1E_ENST00000367570.1_Missense_Mutation_p.A191D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A191D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A191D|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	191					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A191V(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCCTCCGGGCTGTGCGTGTC	0.547													3	14	---	---	---	---	0	0
OR2G6	391211	broad.mit.edu	37	1	248685230	248685230	+	Missense_Mutation	SNP	G	G	A	rs148238174		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:248685230G>A	ENST00000343414.4	+	1	315	c.283G>A	c.(283-285)Ggt>Agt	p.G95S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGCTACGGTGGCTGTGT	0.537													20	60	---	---	---	---	0	0
RGPD4	285190	broad.mit.edu	37	2	108487639	108487639	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:108487639T>G	ENST00000408999.3	+	20	3256	c.3179T>G	c.(3178-3180)cTg>cGg	p.L1060R	RGPD4_ENST00000354986.4_Missense_Mutation_p.L1060R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1060	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAAAAAGTTCTGTATTCACAG	0.393													108	506	---	---	---	---	0	0
BCL2L11	10018	broad.mit.edu	37	2	111907651	111907651	+	Missense_Mutation	SNP	T	T	A	rs114585494	byFrequency	TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:111907651T>A	ENST00000393256.3	+	3	698	c.425T>A	c.(424-426)aTg>aAg	p.M142K	BCL2L11_ENST00000308659.8_Missense_Mutation_p.M82K|BCL2L11_ENST00000357757.2_Missense_Mutation_p.M142K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.M52K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	142					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CCTGCAGATATGCGCCCAGAG	0.448													5	45	---	---	---	---	0	0
NBEAL1	65065	broad.mit.edu	37	2	204073899	204073899	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:204073899A>G	ENST00000449802.1	+	52	7885	c.7552A>G	c.(7552-7554)Ata>Gta	p.I2518V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2518							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACGGTGATTATACATACCAT	0.388													22	85	---	---	---	---	0	0
FZD5	7855	broad.mit.edu	37	2	208632400	208632400	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:208632400C>A	ENST00000295417.3	-	2	1617	c.1064G>T	c.(1063-1065)gGc>gTc	p.G355V		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	355					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CTGCGCGTAGCCCGCGATGGC	0.662													3	18	---	---	---	---	0	0
DOCK10	55619	broad.mit.edu	37	2	225719727	225719727	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:225719727G>T	ENST00000409592.3	-	16	1936	c.1823C>A	c.(1822-1824)cCt>cAt	p.P608H	DOCK10_ENST00000258390.7_Missense_Mutation_p.P614H			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	614							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CAGGCTTCCAGGAATGGTCTG	0.428													3	16	---	---	---	---	0	0
UBA7	7318	broad.mit.edu	37	3	49845862	49845862	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr3:49845862A>C	ENST00000333486.3	-	19	2545	c.2387T>G	c.(2386-2388)gTc>gGc	p.V796G		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	796					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CACACTCCAGACTTCCAGGGC	0.587													16	48	---	---	---	---	0	0
ZNF732	654254	broad.mit.edu	37	4	265718	265718	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:265718C>T	ENST00000419098.1	-	4	938	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TTGCCACATTCCTGACATTTG	0.388													3	15	---	---	---	---	0	0
FRAS1	80144	broad.mit.edu	37	4	79340185	79340185	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:79340185A>G	ENST00000264895.6	+	33	4948	c.4508A>G	c.(4507-4509)tAc>tGc	p.Y1503C	FRAS1_ENST00000325942.6_Missense_Mutation_p.Y1503C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1502					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGATTGTCTACAACATCACT	0.363													6	104	---	---	---	---	0	0
TACR3	6870	broad.mit.edu	37	4	104579429	104579429	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:104579429A>C	ENST00000304883.2	-	2	820	c.680T>G	c.(679-681)aTg>aGg	p.M227R		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	227						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACGGCCTGGCATGACTTTGGT	0.398													10	48	---	---	---	---	0	0
RAB33B	83452	broad.mit.edu	37	4	140375467	140375467	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:140375467G>C	ENST00000305626.5	+	1	507	c.118G>C	c.(118-120)Ggc>Cgc	p.G40R		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	40					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					AATCGTGATCGGCGACTCCAA	0.622													16	21	---	---	---	---	0	0
DNAH5	1767	broad.mit.edu	37	5	13871697	13871697	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr5:13871697C>T	ENST00000265104.4	-	23	3678	c.3574G>A	c.(3574-3576)Gtg>Atg	p.V1192M	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1192	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGGAACCCACACAGACATAT	0.368									Kartagener syndrome				43	46	---	---	---	---	0	0
GFPT2	9945	broad.mit.edu	37	5	179740918	179740918	+	Silent	SNP	G	G	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr5:179740918G>A	ENST00000253778.8	-	14	1489	c.1320C>T	c.(1318-1320)cgC>cgT	p.R440R		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	440	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGAGAGCGCCGCGGTCCTTAC	0.726													12	13	---	---	---	---	0	0
TRIM10	10107	broad.mit.edu	37	6	30128486	30128486	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr6:30128486G>T	ENST00000449742.2	-	1	225	c.150C>A	c.(148-150)gaC>gaA	p.D50E	TRIM10_ENST00000376704.3_Missense_Mutation_p.D50E	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	50						cytoplasm	zinc ion binding			ovary(1)	1						ACTCCTCCAGGTCTGGGCCTG	0.612													33	127	---	---	---	---	0	0
DNAH11	8701	broad.mit.edu	37	7	21920441	21920441	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr7:21920441A>G	ENST00000328843.6	+	76	12369	c.12338A>G	c.(12337-12339)tAt>tGt	p.Y4113C	DNAH11_ENST00000409508.3_Missense_Mutation_p.Y4106C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4113	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGCCGAAGCTATCCTTTTAAT	0.483									Kartagener syndrome				12	80	---	---	---	---	0	0
TNFSF15	9966	broad.mit.edu	37	9	117552950	117552950	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr9:117552950C>T	ENST00000374045.4	-	4	651	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	TNFSF15_ENST00000374044.1_Missense_Mutation_p.V103I	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	180					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TTGGTGATGACCACAGTGATG	0.522													11	48	---	---	---	---	0	0
HERC4	26091	broad.mit.edu	37	10	69748522	69748522	+	Silent	SNP	T	T	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr10:69748522T>G	ENST00000395198.3	-	15	1951	c.1704A>C	c.(1702-1704)gtA>gtC	p.V568V	HERC4_ENST00000412272.2_Silent_p.V568V|HERC4_ENST00000277817.6_Silent_p.V458V|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Silent_p.V568V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	568					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCAAAAGATGTACCACAACTT	0.328													5	143	---	---	---	---	0	0
NFRKB	4798	broad.mit.edu	37	11	129752042	129752042	+	Missense_Mutation	SNP	G	G	A	rs139629776		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr11:129752042G>A	ENST00000446488.3	-	10	1233	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	NFRKB_ENST00000524794.1_Missense_Mutation_p.S402F|NFRKB_ENST00000304521.5_Missense_Mutation_p.S377F|NFRKB_ENST00000524746.1_Missense_Mutation_p.S377F	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	377					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GAAGAAGCTGGAAGATATTTC	0.418											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	35	---	---	---	---	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58020538	58020538	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr12:58020538T>C	ENST00000341156.4	-	11	2175	c.1591A>G	c.(1591-1593)Acc>Gcc	p.T531A	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.T476A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	531					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CACTGGGAGGTCATGCACTGC	0.592													22	153	---	---	---	---	0	0
RAB5C	5878	broad.mit.edu	37	17	40280287	40280287	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr17:40280287C>G	ENST00000393860.3	-	5	749	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	RAB5C_ENST00000547517.1_Missense_Mutation_p.E178Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E145Q|RAB5C_ENST00000346213.4_Missense_Mutation_p.E145Q	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	145					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		ACCTGGAATTCCACGGCTCTC	0.622													10	42	---	---	---	---	0	0
CDH19	28513	broad.mit.edu	37	18	64235830	64235830	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr18:64235830G>A	ENST00000262150.2	-	3	605	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F	CDH19_ENST00000540086.1_Missense_Mutation_p.L105F	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	105	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCTCTATCAAGCTTCTGTATG	0.433													4	78	---	---	---	---	0	0
ZNF845	91664	broad.mit.edu	37	19	53854634	53854634	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr19:53854634A>T	ENST00000458035.1	+	4	823	c.706A>T	c.(706-708)Atc>Ttc	p.I236F	ZNF845_ENST00000595091.1_Missense_Mutation_p.I236F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACATCAGATAATCCATTTAGG	0.373													7	57	---	---	---	---	0	0
FAM83F	113828	broad.mit.edu	37	22	40417338	40417338	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr22:40417338T>C	ENST00000333407.6	+	4	918	c.824T>C	c.(823-825)cTc>cCc	p.L275P	FAM83F_ENST00000473717.1_Missense_Mutation_p.L107P	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F											breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTCCTCCTGCTCCTGACAGGA	0.602													14	148	---	---	---	---	0	0
KDM6A	7403	broad.mit.edu	37	X	44945222	44945222	+	Silent	SNP	A	A	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chrX:44945222A>G	ENST00000377967.4	+	24	3587	c.3546A>G	c.(3544-3546)gaA>gaG	p.E1182E	KDM6A_ENST00000382899.4_Silent_p.E1189E|KDM6A_ENST00000543216.1_Silent_p.E1103E|KDM6A_ENST00000536777.1_Silent_p.E1137E	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1182	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACTTCTGTGAAAAGTAGGTTT	0.358			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								9	35	---	---	---	---	0	0
NOL9	79707	broad.mit.edu	37	1	6592683	6592683	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:6592683T>A	ENST00000377705.5	-	8	1407	c.1375A>T	c.(1375-1377)Aaa>Taa	p.K459*		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	459					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTTGCTTTTTGTGTACAAG	0.463													8	119	---	---	---	---	0	0
AADACL4	343066	broad.mit.edu	37	1	12721809	12721809	+	Nonsense_Mutation	SNP	C	C	G			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:12721809C>G	ENST00000376221.1	+	3	393	c.393C>G	c.(391-393)taC>taG	p.Y131*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	131						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CAGATTGTTACCATGGCCTGT	0.527													11	86	---	---	---	---	0	0
C1orf87	127795	broad.mit.edu	37	1	60520927	60520927	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:60520927G>C	ENST00000371201.3	-	3	398	c.291C>G	c.(289-291)aaC>aaG	p.N97K	C1orf87_ENST00000450089.2_Missense_Mutation_p.N97K	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	97							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTTTCTGGTTGTTTTCTGATT	0.393													50	145	---	---	---	---	0	0
POLR1A	25885	broad.mit.edu	37	2	86327179	86327179	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr2:86327179G>T	ENST00000263857.6	-	2	572	c.194C>A	c.(193-195)tCc>tAc	p.S65Y	POLR1A_ENST00000409681.1_Missense_Mutation_p.S65Y			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	65					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACGCAGGTGGAGCACACCTC	0.557													3	39	---	---	---	---	0	0
ERBB4	2066	broad.mit.edu	37	2	212530061	212530061	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr2:212530061T>C	ENST00000342788.4	-	15	2168	c.1858A>G	c.(1858-1860)Aac>Gac	p.N620D	ERBB4_ENST00000436443.1_Missense_Mutation_p.N620D|ERBB4_ENST00000402597.1_Missense_Mutation_p.N620D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	620	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGGGTGCAGTTTGGATGGCAT	0.478										TSP Lung(8;0.080)			21	51	---	---	---	---	0	0
CIDEC	63924	broad.mit.edu	37	3	9911609	9911609	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr3:9911609G>A	ENST00000336832.2	-	5	650	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.L97F|CIDEC_ENST00000455015.1_Missense_Mutation_p.L97F|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.L181F	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	171					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					TCATAGGAAAGGGAGTATGTA	0.512													3	45	---	---	---	---	0	0
XIRP1	165904	broad.mit.edu	37	3	39225734	39225734	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr3:39225734G>T	ENST00000340369.3	-	2	5431	c.5203C>A	c.(5203-5205)Cct>Act	p.P1735T	XIRP1_ENST00000421646.1_Missense_Mutation_p.P418T|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1735	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCTGAGGGAGGGGCAGGTTCA	0.587													6	94	---	---	---	---	0	0
ATP13A4	84239	broad.mit.edu	37	3	193183888	193183888	+	Silent	SNP	T	T	G			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr3:193183888T>G	ENST00000342695.4	-	11	1520	c.1198A>C	c.(1198-1200)Agg>Cgg	p.R400R	ATP13A4_ENST00000295548.3_Silent_p.R400R|ATP13A4_ENST00000392443.3_Silent_p.R400R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	400					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGGAGGAACCTGATGGCATCC	0.448													32	119	---	---	---	---	0	0
C4orf29	80167	broad.mit.edu	37	4	128930134	128930134	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr4:128930134T>G	ENST00000388795.5	+	5	495	c.92T>G	c.(91-93)cTt>cGt	p.L31R	C4orf29_ENST00000444616.1_Missense_Mutation_p.L113R|C4orf29_ENST00000398965.1_Missense_Mutation_p.L113R			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	113						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGCATTCATCTTGCTGGAACA	0.299													11	26	---	---	---	---	0	0
SNTG1	54212	broad.mit.edu	37	8	51617164	51617164	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr8:51617164G>A	ENST00000522124.1	+	16	1704	c.1043G>A	c.(1042-1044)aGt>aAt	p.S348N	SNTG1_ENST00000517473.1_Missense_Mutation_p.S348N|SNTG1_ENST00000518864.1_Missense_Mutation_p.S348N|SNTG1_ENST00000276467.5_Missense_Mutation_p.S348N	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	348	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CACCAGGACAGTGACCTGCTG	0.557													4	76	---	---	---	---	0	0
FAM208B	54906	broad.mit.edu	37	10	5781751	5781751	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr10:5781751C>G	ENST00000328090.5	+	13	2243	c.1618C>G	c.(1618-1620)Cta>Gta	p.L540V	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	540																	GTTAGCCGATCTAGCATTAAG	0.418													29	77	---	---	---	---	0	0
OR4P4	81300	broad.mit.edu	37	11	55405907	55405907	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr11:55405907G>C	ENST00000314612.2	+	1	74	c.74G>C	c.(73-75)tGc>tCc	p.C25S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GAAGTCCTCTGCTTTGTATTA	0.353													3	56	---	---	---	---	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137888	63137888	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr11:63137888G>T	ENST00000279178.3	+	1	609	c.360G>T	c.(358-360)tgG>tgT	p.W120C	SLC22A9_ENST00000310969.4_Missense_Mutation_p.W120C	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	120					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGGATGGCTGGGTGTATGACA	0.507													15	57	---	---	---	---	0	0
C1S	716	broad.mit.edu	37	12	7169982	7169982	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:7169982T>C	ENST00000406697.1	+	6	837	c.209T>C	c.(208-210)gTg>gCg	p.V70A	C1S_ENST00000402681.3_Intron|C1S_ENST00000328916.3_Missense_Mutation_p.V70A|C1S_ENST00000360817.5_Missense_Mutation_p.V70A			P09871	C1S_HUMAN	complement component 1, s subcomponent	70	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TATGACTCAGTGCAGGTATGT	0.463													31	41	---	---	---	---	0	0
TESPA1	9840	broad.mit.edu	37	12	55361659	55361659	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:55361659A>T	ENST00000449076.1	-	4	356	c.224T>A	c.(223-225)tTt>tAt	p.F75Y	TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.F75Y	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	75																	TTCCTCAGAAAATCCTTCTTC	0.373													11	27	---	---	---	---	0	0
OTOGL	283310	broad.mit.edu	37	12	80647288	80647288	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:80647288G>T	ENST00000458043.2	+	13	1307	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F	OTOGL_ENST00000547103.1_Missense_Mutation_p.C434F	NM_173591.3	NP_775862.3			otogelin-like									p.C434F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGGAAAATTGCCCATGCGGT	0.353													11	39	---	---	---	---	0	0
PLXNC1	10154	broad.mit.edu	37	12	94603368	94603368	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:94603368G>T	ENST00000258526.4	+	5	1691	c.1442G>T	c.(1441-1443)tGc>tTc	p.C481F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	481					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTTTAGGTGCACTTTTCAA	0.393													4	142	---	---	---	---	0	0
IGHV3-23	0	broad.mit.edu	37	14	106725617	106725617	+	RNA	SNP	A	A	G			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr14:106725617A>G	ENST00000390609.2	-	0	116																											ACCTTTTAAAATAGCCACAAG	0.428													25	119	---	---	---	---	0	0
ANPEP	290	broad.mit.edu	37	15	90349645	90349645	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr15:90349645G>A	ENST00000300060.6	-	2	483	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	57	Cytosolic Ser/Thr-rich junction.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGCGGGGTTGGTGGTGGCTGA	0.607													5	102	---	---	---	---	0	0
IGSF6	10261	broad.mit.edu	37	16	21658767	21658767	+	Silent	SNP	T	T	C			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr16:21658767T>C	ENST00000268389.4	-	2	175	c.114A>G	c.(112-114)ctA>ctG	p.L38L	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	38	Ig-like C2-type.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		AGTCCACTTCTAGGTACCACG	0.552													11	38	---	---	---	---	0	0
MPP2	4355	broad.mit.edu	37	17	41958703	41958703	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr17:41958703T>A	ENST00000269095.4	-	8	1132	c.828A>T	c.(826-828)gaA>gaT	p.E276D	MPP2_ENST00000518766.1_Missense_Mutation_p.E321D|MPP2_ENST00000461854.1_Missense_Mutation_p.E300D|MPP2_ENST00000523501.1_Missense_Mutation_p.E265D|MPP2_ENST00000377184.3_Missense_Mutation_p.E293D|MPP2_ENST00000536246.1_Missense_Mutation_p.E265D|MPP2_ENST00000520305.1_Missense_Mutation_p.E137D	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	300	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CACTGCCCCCTTCGACATGGC	0.582											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	46	---	---	---	---	0	0
ABCA7	10347	broad.mit.edu	37	19	1045143	1045143	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr19:1045143C>T	ENST00000263094.6	+	12	1589	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	ABCA7_ENST00000433129.1_Missense_Mutation_p.P453L|ABCA7_ENST00000435683.2_Missense_Mutation_p.P315L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	453					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAGCACCCAACCCCAGAC	0.627													23	66	---	---	---	---	0	0
BLCAP	10904	broad.mit.edu	37	20	36147327	36147327	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr20:36147327C>T	ENST00000414542.2	-	3	697	c.250G>A	c.(250-252)Gtt>Att	p.V84I	BLCAP_ENST00000397134.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397131.1_Missense_Mutation_p.V84I|BLCAP_ENST00000373537.2_Missense_Mutation_p.V84I|BLCAP_ENST00000397137.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397135.1_Missense_Mutation_p.V84I	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	84					apoptosis|cell cycle	integral to membrane				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				GTGCCCACAACGCCGGGATCA	0.547													14	34	---	---	---	---	0	0
PRDM16	63976	broad.mit.edu	37	1	3328822	3328822	+	Silent	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:3328822C>T	ENST00000378398.3	+	10	2146	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	PRDM16_ENST00000511072.1_Silent_p.G688G|PRDM16_ENST00000378391.2_Silent_p.G687G|PRDM16_ENST00000442529.2_Silent_p.G687G|PRDM16_ENST00000441472.2_Silent_p.G687G|PRDM16_ENST00000270722.5_Silent_p.G687G|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.G688G			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	687	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTGCAACGGGCGCCGCCGGGG	0.657			T	EVI1	"""MDS, AML"""								18	43	---	---	---	---	0	0
RNF186	54546	broad.mit.edu	37	1	20141158	20141158	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:20141158C>T	ENST00000375121.2	-	1	613	c.437G>A	c.(436-438)aGt>aAt	p.S146N	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	146						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTTTGCACTTACTTCATC	0.607													5	80	---	---	---	---	0	0
SZT2	23334	broad.mit.edu	37	1	43888957	43888957	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:43888957T>C	ENST00000562955.1	+	15	2225	c.2225T>C	c.(2224-2226)cTg>cCg	p.L742P	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	742						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTTGTGGTCCTGCATAAGCCA	0.627													3	31	---	---	---	---	0	0
TRIM33	51592	broad.mit.edu	37	1	114968071	114968071	+	Splice_Site	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:114968071C>T	ENST00000358465.2	-	9	1778	c.1695G>A	c.(1693-1695)caG>caA	p.Q565Q	TRIM33_ENST00000450349.2_Splice_Site_p.Q173Q|TRIM33_ENST00000369543.2_Splice_Site_p.Q565Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	565					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGATACTTACCTGTTGTTGTA	0.383			T	RET	papillary thyroid								42	85	---	---	---	---	0	0
SHE	126669	broad.mit.edu	37	1	154459160	154459160	+	Splice_Site	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:154459160C>G	ENST00000304760.2	-	4	1111		c.e4-1			NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E											breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAAACTGGACTGGAAGGAAG	0.542													23	20	---	---	---	---	0	0
CD5L	922	broad.mit.edu	37	1	157804238	157804238	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:157804238T>G	ENST00000368174.4	-	4	773	c.677A>C	c.(676-678)aAc>aCc	p.N226T		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	226	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTTGCAGGTGTTCTTCCCCCA	0.493													25	20	---	---	---	---	0	0
SMEK2	57223	broad.mit.edu	37	2	55825874	55825874	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:55825874C>G	ENST00000272313.5	-	4	926	c.599G>C	c.(598-600)gGa>gCa	p.G200A	SMEK2_ENST00000345102.5_Missense_Mutation_p.G200A|SMEK2_ENST00000407823.3_Missense_Mutation_p.G200A	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	200						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAATAAGATTCCTCTAATAAT	0.373													23	53	---	---	---	---	0	0
MAP2	4133	broad.mit.edu	37	2	210559664	210559664	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:210559664A>G	ENST00000360351.4	+	7	3276	c.2770A>G	c.(2770-2772)Aga>Gga	p.R924G	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R920G|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	924					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCAGCCGGAAGAGTCAAAGA	0.453													8	43	---	---	---	---	0	0
SAG	6295	broad.mit.edu	37	2	234237211	234237211	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:234237211C>G	ENST00000409110.1	+	8	830	c.600C>G	c.(598-600)ttC>ttG	p.F200L	SAG_ENST00000449594.2_Missense_Mutation_p.F66L	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	200					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CCTGGCAGTTCTTCATGTCTG	0.602													13	40	---	---	---	---	0	0
RTP1	132112	broad.mit.edu	37	3	186917361	186917361	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr3:186917361C>T	ENST00000312295.4	+	2	325	c.295C>T	c.(295-297)Cac>Tac	p.H99Y	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	99					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CTGGTGCTGGCACACCTGGCA	0.647													34	57	---	---	---	---	0	0
FGA	2243	broad.mit.edu	37	4	155507284	155507284	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr4:155507284G>T	ENST00000302053.3	-	5	1375	c.1297C>A	c.(1297-1299)Ctg>Atg	p.L433M	FGA_ENST00000403106.3_Missense_Mutation_p.L433M	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	433					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAAGTGACCAGTTTTTCTGTG	0.498													34	65	---	---	---	---	0	0
SNX25	83891	broad.mit.edu	37	4	186241903	186241903	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr4:186241903A>G	ENST00000504273.1	+	8	1163	c.869A>G	c.(868-870)gAt>gGt	p.D290G	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.D290G			Q9H3E2	SNX25_HUMAN	sorting nexin 25	290	RGS.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CAGTTTGAAGATATCTTGGCC	0.328													20	35	---	---	---	---	0	0
LSM11	134353	broad.mit.edu	37	5	157181082	157181082	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr5:157181082T>G	ENST00000286307.5	+	3	715	c.659T>G	c.(658-660)cTg>cGg	p.L220R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	220					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATTCTTCACTGACTCTCACT	0.473													30	21	---	---	---	---	0	0
ZNF76	7629	broad.mit.edu	37	6	35259145	35259145	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr6:35259145C>T	ENST00000373953.3	+	8	982	c.716C>T	c.(715-717)tCa>tTa	p.S239L	ZNF76_ENST00000339411.5_Missense_Mutation_p.S239L|ZNF76_ENST00000440666.2_Missense_Mutation_p.S213L	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	239					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TTCAAGACCTCAGGAGACCTG	0.552													12	7	---	---	---	---	0	0
PKD1L1	168507	broad.mit.edu	37	7	47920335	47920335	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:47920335C>A	ENST00000289672.2	-	21	3561	c.3511G>T	c.(3511-3513)Gtg>Ttg	p.V1171L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1171	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCCACAGACACTTGCAGGACG	0.473													6	55	---	---	---	---	0	0
ABCA13	154664	broad.mit.edu	37	7	48280530	48280530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:48280530G>T	ENST00000435803.1	+	10	1153	c.1129G>T	c.(1129-1131)Gag>Tag	p.E377*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	377					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCATAGTCTGGAGGCTCTCAG	0.493													23	38	---	---	---	---	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558913	113558913	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:113558913C>G	ENST00000284601.3	-	1	207	c.139G>C	c.(139-141)Gat>Cat	p.D47H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	47					glycogen metabolic process	integral to membrane		p.D47Y(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCAGAAGAATCAGAACCTCGT	0.368													17	129	---	---	---	---	0	0
CADPS2	93664	broad.mit.edu	37	7	122111518	122111518	+	Silent	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:122111518C>G	ENST00000334010.7	-	13	2521	c.2100G>C	c.(2098-2100)ctG>ctC	p.L700L	CADPS2_ENST00000412584.2_Silent_p.L696L|CADPS2_ENST00000313070.7_Silent_p.L696L|CADPS2_ENST00000449022.2_Silent_p.L699L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	699					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AATGTTCCATCAGTTCTGCAA	0.478													11	15	---	---	---	---	0	0
CNOT4	4850	broad.mit.edu	37	7	135106950	135106950	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:135106950G>T	ENST00000428680.2	-	3	606	c.327C>A	c.(325-327)aaC>aaA	p.N109K	CNOT4_ENST00000361528.4_Missense_Mutation_p.N109K|CNOT4_ENST00000356162.4_Missense_Mutation_p.N109K|CNOT4_ENST00000541284.1_Missense_Mutation_p.N109K|CNOT4_ENST00000414802.1_Missense_Mutation_p.N109K|CNOT4_ENST00000451834.1_Missense_Mutation_p.N109K|CNOT4_ENST00000315544.5_Missense_Mutation_p.N109K|CNOT4_ENST00000423368.2_Missense_Mutation_p.N109K	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	109	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CAAAGACGAGGTTTTTTTGTA	0.353													42	54	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151845693	151845693	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:151845693T>C	ENST00000355193.2	-	53	13708	c.13490A>G	c.(13489-13491)tAt>tGt	p.Y4497C	KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C					lysine (K)-specific methyltransferase 2C									p.Y4497C(1)|p.Y4440C(1)									CTGAGTCTCATAGACCTCCGT	0.507													45	68	---	---	---	---	0	0
STAU2	27067	broad.mit.edu	37	8	74529544	74529544	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr8:74529544G>A	ENST00000355780.5	-	6	675	c.457C>T	c.(457-459)Cca>Tca	p.P153S	STAU2_ENST00000521210.1_Missense_Mutation_p.P81S|STAU2_ENST00000522695.1_Missense_Mutation_p.P153S|STAU2_ENST00000521727.1_Missense_Mutation_p.P165S|STAU2_ENST00000519961.1_Missense_Mutation_p.P185S|STAU2_ENST00000523558.1_Missense_Mutation_p.P13S|STAU2_ENST00000524300.1_Missense_Mutation_p.P185S|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000522509.1_Missense_Mutation_p.P153S|STAU2_ENST00000517542.1_Missense_Mutation_p.P147S	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	185	DRBM 2.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GATCTTTCTGGAATAGGTTCA	0.398													10	30	---	---	---	---	0	0
DNA2	1763	broad.mit.edu	37	10	70196776	70196776	+	Silent	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:70196776T>C	ENST00000399180.2	-	10	1895	c.1896A>G	c.(1894-1896)ttA>ttG	p.L632L	DNA2_ENST00000399179.2_Silent_p.L546L|DNA2_ENST00000358410.3_Silent_p.L546L			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	546					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ACCTGTCTAATAAACAAGTTA	0.333													46	59	---	---	---	---	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540343	96540343	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:96540343A>C	ENST00000371321.3	+	4	651	c.569A>C	c.(568-570)aAa>aCa	p.K190T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	190					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTCGATTATAAAGATCAGCAA	0.418													101	88	---	---	---	---	0	0
SOX6	55553	broad.mit.edu	37	11	16117662	16117662	+	Silent	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:16117662C>T	ENST00000352083.6	-	9	1058	c.981G>A	c.(979-981)aaG>aaA	p.K327K	SOX6_ENST00000528429.1_Silent_p.K327K|SOX6_ENST00000316399.6_Silent_p.K327K|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000396356.3_Silent_p.K327K			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	327					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AGACATGACCCTTCTGTTTAG	0.398													26	41	---	---	---	---	0	0
DBX1	120237	broad.mit.edu	37	11	20178066	20178066	+	Silent	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:20178066G>A	ENST00000524983.2	-	4	1014	c.726C>T	c.(724-726)cgC>cgT	p.R242R	DBX1_ENST00000227256.3_Silent_p.R281R			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	242					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						ACAGGAGTTCGCGCTCCTTGG	0.622													13	33	---	---	---	---	0	0
FAT3	120114	broad.mit.edu	37	11	92592421	92592421	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:92592421G>A	ENST00000298047.6	+	20	11608	c.11591G>A	c.(11590-11592)cGt>cAt	p.R3864H	FAT3_ENST00000525166.1_Missense_Mutation_p.R3714H|FAT3_ENST00000533797.1_Missense_Mutation_p.R199H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3864H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3864	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTAGCTCTGCGTCTTCGAACA	0.393										TCGA Ovarian(4;0.039)			16	15	---	---	---	---	0	0
HSPA8	3312	broad.mit.edu	37	11	122930210	122930210	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:122930210T>C	ENST00000534624.1	-	5	1367	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S	HSPA8_ENST00000227378.3_Missense_Mutation_p.N364S|HSPA8_ENST00000453788.2_Missense_Mutation_p.N364S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N218S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N345S|HSPA8_ENST00000532636.1_Missense_Mutation_p.N364S|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534319.1_Missense_Mutation_p.N128S	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	364	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCATCAGGGTTGATGCTCTT	0.438													13	112	---	---	---	---	0	0
DDX23	9416	broad.mit.edu	37	12	49225958	49225958	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr12:49225958A>G	ENST00000308025.3	-	15	2046	c.1967T>C	c.(1966-1968)cTg>cCg	p.L656P		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	656	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CAAGATTGCCAGCAGCTTTTT	0.483													24	52	---	---	---	---	0	0
NPAP1	23742	broad.mit.edu	37	15	24924310	24924310	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr15:24924310G>T	ENST00000329468.2	+	1	3770	c.3296G>T	c.(3295-3297)tGc>tTc	p.C1099F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGAATTCATGCAGTGGTATG	0.507													69	101	---	---	---	---	0	0
GRIN2A	0	broad.mit.edu	37	16	10031896	10031896	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:10031896C>G	ENST00000396573.2	-	4	1236	c.927G>C	c.(925-927)aaG>aaC	p.K309N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	309					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTAGGAGAACTTCTCCAGCA	0.572													6	37	---	---	---	---	0	0
GPR139	124274	broad.mit.edu	37	16	20043950	20043950	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:20043950T>C	ENST00000570682.1	-	2	469	c.169A>G	c.(169-171)Aga>Gga	p.R57G		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	57						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCTGTCTTCTTGCCACCAGC	0.458													13	21	---	---	---	---	0	0
ZFHX3	463	broad.mit.edu	37	16	72828630	72828630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:72828630C>A	ENST00000268489.5	-	9	8623	c.7951G>T	c.(7951-7953)Gaa>Taa	p.E2651*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1737*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2651					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.E2651Q(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTAGTTGTTCCGGTGTGATG	0.498													10	318	---	---	---	---	0	0
OR3A1	4994	broad.mit.edu	37	17	3195619	3195619	+	Silent	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:3195619A>G	ENST00000323404.1	-	1	257	c.258T>C	c.(256-258)agT>agC	p.S86S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						ACAGGAGACGACTCAACATTG	0.562													15	8	---	---	---	---	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4457112	4457112	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:4457112A>T	ENST00000254718.4	-	5	860	c.554T>A	c.(553-555)cTc>cAc	p.L185H	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L185H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	185	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TACCTCGGAGAGGATGTCCAC	0.592													28	8	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:7577570C>T	ENST00000420246.2	-	7	843	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AACTGTTACACATGTAGTTGT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	9	---	---	---	---	0	0
BRIP1	83990	broad.mit.edu	37	17	59760933	59760933	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:59760933C>A	ENST00000259008.2	-	20	3741	c.3474G>T	c.(3472-3474)ttG>ttT	p.L1158F		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1158					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AATTGTTAGCCAATCTATTTC	0.333			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					17	47	---	---	---	---	0	0
JAK3	3718	broad.mit.edu	37	19	17950368	17950368	+	Silent	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:17950368G>T	ENST00000458235.1	-	10	1458	c.1359C>A	c.(1357-1359)ctC>ctA	p.L453L	JAK3_ENST00000527670.1_Silent_p.L453L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Silent_p.L453L	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	453	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGGTTGCCAGGAGCTCTCGAA	0.627		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	6	---	---	---	---	0	0
JAK3	3718	broad.mit.edu	37	19	17950369	17950369	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:17950369A>T	ENST00000458235.1	-	10	1457	c.1358T>A	c.(1357-1359)cTc>cAc	p.L453H	JAK3_ENST00000527670.1_Missense_Mutation_p.L453H|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.L453H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	453	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGTTGCCAGGAGCTCTCGAAG	0.627		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	6	---	---	---	---	0	0
ZNF160	90338	broad.mit.edu	37	19	53573131	53573131	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:53573131G>A	ENST00000601421.1	-	3	1424	c.548C>T	c.(547-549)cCa>cTa	p.P183L	ZNF160_ENST00000429604.1_Missense_Mutation_p.P219L|ZNF160_ENST00000418871.1_Missense_Mutation_p.P219L|ZNF160_ENST00000599056.1_Missense_Mutation_p.P219L			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	219					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTGTTGAAGTGGTGACACTGA	0.383													24	110	---	---	---	---	0	0
ZNRF3	84133	broad.mit.edu	37	22	29438481	29438481	+	Splice_Site	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr22:29438481A>G	ENST00000544604.2	+	3	601		c.e3-1		ZNRF3_ENST00000332811.4_Splice_Site|ZNRF3_ENST00000402174.1_Splice_Site|ZNRF3_ENST00000406323.3_Splice_Site	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3							integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TAACTCTGGCAGGCCAAGCGA	0.493													17	15	---	---	---	---	0	0
MXRA5	25878	broad.mit.edu	37	X	3227766	3227766	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:3227766G>C	ENST00000217939.6	-	7	8632	c.8478C>G	c.(8476-8478)caC>caG	p.H2826Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2826	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCAGAAGACGTGGATGTAAG	0.458													14	2	---	---	---	---	0	0
WDR13	64743	broad.mit.edu	37	X	48458010	48458010	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:48458010A>T	ENST00000218056.5	+	4	933	c.428A>T	c.(427-429)gAg>gTg	p.E143V	WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Missense_Mutation_p.E143V	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	143						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCAGCAGCAGAGGCAAGTCGG	0.602													34	12	---	---	---	---	0	0
AMOT	154796	broad.mit.edu	37	X	112022741	112022741	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:112022741T>C	ENST00000371959.3	-	10	2640	c.2641A>G	c.(2641-2643)Atc>Gtc	p.I881V	AMOT_ENST00000371962.1_Missense_Mutation_p.I649V|AMOT_ENST00000524145.1_Missense_Mutation_p.I881V|AMOT_ENST00000304758.1_Missense_Mutation_p.I472V	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	881					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ggaacagagatgggagcaaca	0.597													14	4	---	---	---	---	0	0
RPRD2	23248	broad.mit.edu	37	1	150445317	150445317	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:150445317C>G	ENST00000401000.4	+	10	3880	c.3815C>G	c.(3814-3816)cCt>cGt	p.P1272R	RPRD2_ENST00000369068.4_Missense_Mutation_p.P1298R|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1298	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTCCACCCCCTGTTGACCAC	0.607													3	9	---	---	---	---	0	0
SPTA1	6708	broad.mit.edu	37	1	158646058	158646058	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158646058T>C	ENST00000368147.4	-	8	1165	c.985A>G	c.(985-987)Aag>Gag	p.K329E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTGTCAGCTTCTCTGCTTTA	0.498													72	99	---	---	---	---	0	0
OR6K3	391114	broad.mit.edu	37	1	158687669	158687669	+	Silent	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158687669G>A	ENST00000368146.1	-	1	284	c.285C>T	c.(283-285)ccC>ccT	p.P95P	OR6K3_ENST00000368145.1_Silent_p.P79P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAGCATCTTGGGAATGGTGG	0.453													40	74	---	---	---	---	0	0
OR6K3	391114	broad.mit.edu	37	1	158687670	158687670	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158687670G>T	ENST00000368146.1	-	1	283	c.284C>A	c.(283-285)cCc>cAc	p.P95H	OR6K3_ENST00000368145.1_Missense_Mutation_p.P79H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAGCATCTTGGGAATGGTGGC	0.453													40	77	---	---	---	---	0	0
APOB	338	broad.mit.edu	37	2	21233084	21233084	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:21233084C>T	ENST00000233242.1	-	26	6783	c.6656G>A	c.(6655-6657)cGt>cAt	p.R2219H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2219					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAAATTTACACGGATATGATA	0.259													18	41	---	---	---	---	0	0
NCOA1	8648	broad.mit.edu	37	2	24929887	24929887	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:24929887C>G	ENST00000405141.1	+	14	2259	c.1548C>G	c.(1546-1548)agC>agG	p.S516R	NCOA1_ENST00000538539.1_Missense_Mutation_p.S516R|NCOA1_ENST00000288599.5_Missense_Mutation_p.S516R|NCOA1_ENST00000348332.3_Missense_Mutation_p.S516R|NCOA1_ENST00000406961.1_Missense_Mutation_p.S516R|NCOA1_ENST00000395856.3_Missense_Mutation_p.S516R|NCOA1_ENST00000407230.1_Missense_Mutation_p.S365R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	516	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGACATTAAGCTCTCCCGTTG	0.418			T	PAX3	alveolar rhadomyosarcoma								27	45	---	---	---	---	0	0
C2orf61	285051	broad.mit.edu	37	2	47378575	47378575	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:47378575T>G	ENST00000294947.2	-	3	256	c.221A>C	c.(220-222)aAt>aCt	p.N74T	RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000445927.2_Missense_Mutation_p.N74T	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	74								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTTTTTAAAATTGTAGGTTGC	0.398													46	59	---	---	---	---	0	0
IL18RAP	8807	broad.mit.edu	37	2	103063627	103063627	+	Silent	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:103063627G>A	ENST00000264260.2	+	10	1759	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L	IL18RAP_ENST00000409369.1_Silent_p.L248L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	390					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAATAGTGCTGCTGTACCGGA	0.577													65	73	---	---	---	---	0	0
XIRP2	129446	broad.mit.edu	37	2	168107563	168107563	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:168107563C>G	ENST00000409195.1	+	9	9750	c.9661C>G	c.(9661-9663)Ctt>Gtt	p.L3221V	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2999V|XIRP2_ENST00000295237.9_Missense_Mutation_p.L3221V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3046					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCTGCAACACTTCGTCGTCA	0.453													26	30	---	---	---	---	0	0
TTC30A	92104	broad.mit.edu	37	2	178482390	178482390	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:178482390G>A	ENST00000355689.5	-	1	1304	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGTCAAATGGGCATTTTCTGC	0.448													36	50	---	---	---	---	0	0
WDR75	84128	broad.mit.edu	37	2	190315668	190315668	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:190315668G>T	ENST00000314761.4	+	3	316	c.256G>T	c.(256-258)Gac>Tac	p.D86Y		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	86						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TAAACTGTGGGACTATATAGA	0.284													20	57	---	---	---	---	0	0
DCLK3	85443	broad.mit.edu	37	3	36779816	36779816	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr3:36779816G>A	ENST00000416516.2	-	2	825	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	112						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTCCAGAGTGGCTTCCCTGGG	0.557													24	136	---	---	---	---	0	0
PTPN23	25930	broad.mit.edu	37	3	47437635	47437635	+	Silent	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr3:47437635T>C	ENST00000265562.4	+	2	164	c.87T>C	c.(85-87)ttT>ttC	p.F29F	PTPN23_ENST00000431726.1_5'UTR	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	29	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCTGTAGTTTGTCCTGAAGA	0.478													10	83	---	---	---	---	0	0
GLP1R	2740	broad.mit.edu	37	6	39046951	39046951	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr6:39046951A>C	ENST00000373256.4	+	10	1061	c.1018A>C	c.(1018-1020)Atg>Ctg	p.M340L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	340					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GGCCAATCTCATGTGCAAGAC	0.542													60	28	---	---	---	---	0	0
ZNF318	24149	broad.mit.edu	37	6	43325471	43325471	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr6:43325471C>T	ENST00000361428.2	-	3	658	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R194Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	194					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGGGAGCTTCGAGTGAAGAC	0.473													40	92	---	---	---	---	0	0
GLI3	2737	broad.mit.edu	37	7	42018254	42018254	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr7:42018254A>G	ENST00000395925.3	-	11	1675	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	531					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACCAACATATACTGGGCTTTG	0.502									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				11	128	---	---	---	---	0	0
TEX15	56154	broad.mit.edu	37	8	30699598	30699598	+	Silent	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr8:30699598T>C	ENST00000256246.2	-	1	7010	c.6936A>G	c.(6934-6936)cgA>cgG	p.R2312R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2312										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAGTGCTCGGTCGTTTTTTAG	0.343													28	105	---	---	---	---	0	0
RANBP6	26953	broad.mit.edu	37	9	6015581	6015581	+	Silent	SNP	C	C	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:6015581C>A	ENST00000259569.5	-	1	37	c.27G>T	c.(25-27)gtG>gtT	p.V9V	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	9					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CGGTCGCCGGCACCCCTGCAG	0.577													19	34	---	---	---	---	0	0
ABCA1	19	broad.mit.edu	37	9	107564358	107564358	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:107564358T>C	ENST00000374736.3	-	34	5069	c.4675A>G	c.(4675-4677)Aag>Gag	p.K1559E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1559					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGGTGTTTCTTCATTTGTTTG	0.423													4	49	---	---	---	---	0	0
SBF2	81846	broad.mit.edu	37	11	9990086	9990086	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr11:9990086G>T	ENST00000256190.8	-	14	1539	c.1402C>A	c.(1402-1404)Cca>Aca	p.P468T		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	468					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGAGGATTTGGATTCTCCTGT	0.448													30	52	---	---	---	---	0	0
KCNA1	3736	broad.mit.edu	37	12	5020567	5020567	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:5020567A>T	ENST00000382545.3	+	2	1130	c.23A>T	c.(22-24)aAc>aTc	p.N8I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	8					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTGGGGAGAACGTGGACGAG	0.731													8	18	---	---	---	---	0	0
RP11-266K4.9	0	broad.mit.edu	37	12	8388294	8388294	+	RNA	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:8388294C>T	ENST00000304751.9	+	0	284				FAM86FP_ENST00000427893.2_RNA																							GAGATGATGGCTGTGCTCTCG	0.587													8	25	---	---	---	---	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57994722	57994722	+	Silent	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:57994722C>T	ENST00000354947.5	+	8	958	c.942C>T	c.(940-942)agC>agT	p.S314S	PIP4K2C_ENST00000540759.2_Silent_p.S314S|PIP4K2C_ENST00000422156.3_Silent_p.S266S|PIP4K2C_ENST00000550465.1_Silent_p.S296S			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	314	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GGGACTGCAGCCTGACTGGAC	0.617													29	52	---	---	---	---	0	0
METAP2	10988	broad.mit.edu	37	12	95868032	95868032	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:95868032G>A	ENST00000323666.5	+	1	306	c.77G>A	c.(76-78)gGa>gAa	p.G26E	METAP2_ENST00000261220.9_Missense_Mutation_p.G26E|METAP2_ENST00000546753.1_Missense_Mutation_p.G26E|METAP2_ENST00000551840.1_Missense_Mutation_p.G26E|METAP2_ENST00000550777.1_Missense_Mutation_p.G26E	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	26					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AGGGAAGAAGGAGCTGCCTCT	0.557													15	25	---	---	---	---	0	0
MIPOL1	145282	broad.mit.edu	37	14	37736347	37736347	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr14:37736347C>G	ENST00000327441.7	+	5	690	c.224C>G	c.(223-225)tCt>tGt	p.S75C	MIPOL1_ENST00000545536.1_Missense_Mutation_p.S44C|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S75C|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S75C|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S44C|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S44C	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	75										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GATGATGAGTCTGTTTACTGC	0.423													14	16	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38061313	38061313	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr14:38061313C>T	ENST00000250448.2	-	2	737	c.676G>A	c.(676-678)Gac>Aac	p.D226N	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	226					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.D226N(2)|p.D226Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGAAGCAGTCATTGAAGGAC	0.607													16	18	---	---	---	---	0	0
TSC2	7249	broad.mit.edu	37	16	2136230	2136230	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr16:2136230G>C	ENST00000219476.3	+	37	5329	c.4699G>C	c.(4699-4701)Ggc>Cgc	p.G1567R	TSC2_ENST00000439673.2_Missense_Mutation_p.G1464R|TSC2_ENST00000382538.6_Missense_Mutation_p.G1452R|TSC2_ENST00000401874.2_Missense_Mutation_p.G1500R|TSC2_ENST00000353929.4_Missense_Mutation_p.G1524R|TSC2_ENST00000350773.4_Missense_Mutation_p.G1544R|TSC2_ENST00000568454.1_Missense_Mutation_p.G1511R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1567	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAATGAGCATGGCTCCTACAG	0.667			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				16	17	---	---	---	---	0	0
CETP	1071	broad.mit.edu	37	16	57003576	57003576	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr16:57003576A>T	ENST00000200676.3	+	4	552	c.422A>T	c.(421-423)cAg>cTg	p.Q141L	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Missense_Mutation_p.Q141L|CETP_ENST00000566128.1_Missense_Mutation_p.Q76L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	141					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ATTGACCTCCAGATCAACACA	0.577													17	42	---	---	---	---	0	0
TOP3A	7156	broad.mit.edu	37	17	18181563	18181563	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr17:18181563T>A	ENST00000321105.5	-	18	2467	c.2253A>T	c.(2251-2253)agA>agT	p.R751S	TOP3A_ENST00000540524.1_Missense_Mutation_p.R281S|TOP3A_ENST00000542570.1_Missense_Mutation_p.R656S	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	751					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CCCCTGAAAATCTCAGGTCCA	0.622													21	30	---	---	---	---	0	0
ABCA7	10347	broad.mit.edu	37	19	1050920	1050920	+	Splice_Site	SNP	G	G	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:1050920G>C	ENST00000263094.6	+	19	2784	c.2553G>C	c.(2551-2553)ctG>ctC	p.L851L	ABCA7_ENST00000433129.1_Splice_Site_p.L851L|ABCA7_ENST00000435683.2_Splice_Site_p.L713L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	851	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATCCACAGGTCCATCTTGA	0.527													9	72	---	---	---	---	0	0
NCAN	1463	broad.mit.edu	37	19	19335210	19335210	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:19335210A>G	ENST00000252575.6	+	5	845	c.746A>G	c.(745-747)tAc>tGc	p.Y249C		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CAGGAACTCTACGATGTGTAT	0.587													21	25	---	---	---	---	0	0
ZNF146	7705	broad.mit.edu	37	19	36727583	36727583	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:36727583T>C	ENST00000456324.1	+	3	1690	c.241T>C	c.(241-243)Ttt>Ctt	p.F81L	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Missense_Mutation_p.F81L	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	81					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGGAAAATCATTTAGCCAGAA	0.398													9	85	---	---	---	---	0	0
SCAF1	58506	broad.mit.edu	37	19	50156102	50156102	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:50156102C>T	ENST00000360565.3	+	7	2580	c.2456C>T	c.(2455-2457)tCt>tTt	p.S819F		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	819	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGCTCAGGCTCTTCATCCTCG	0.662													9	8	---	---	---	---	0	0
KLK4	9622	broad.mit.edu	37	19	51412612	51412612	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:51412612G>C	ENST00000324041.1	-	2	119	c.120C>G	c.(118-120)caC>caG	p.H40Q		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	40	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AGGGCTGCGAGTGCGGGCTGC	0.632													19	153	---	---	---	---	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996226	140996226	+	Silent	SNP	C	C	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chrX:140996226C>A	ENST00000285879.4	+	4	3322	c.3036C>A	c.(3034-3036)acC>acA	p.T1012T	MAGEC1_ENST00000406005.2_Silent_p.T79T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1012	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TAAAGGGCACCTATGCCTCTG	0.547										HNSCC(15;0.026)			50	7	---	---	---	---	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800433	28800433	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:28800433G>C	ENST00000373839.3	+	7	1452	c.1191G>C	c.(1189-1191)agG>agC	p.R397S	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R407S	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	397	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCAAGAGGATACTGGACC	0.512													6	37	---	---	---	---	0	0
HFM1	164045	broad.mit.edu	37	1	91846485	91846485	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:91846485G>A	ENST00000370425.3	-	7	955	c.857C>T	c.(856-858)tCc>tTc	p.S286F	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	286							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAAGGCCTTGGACTGTATATA	0.279													9	45	---	---	---	---	0	0
HFM1	164045	broad.mit.edu	37	1	91846486	91846486	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:91846486A>C	ENST00000370425.3	-	7	954	c.856T>G	c.(856-858)Tcc>Gcc	p.S286A	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	286							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAGGCCTTGGACTGTATATAG	0.279													9	45	---	---	---	---	0	0
HRNR	388697	broad.mit.edu	37	1	152187688	152187688	+	Silent	SNP	T	T	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:152187688T>C	ENST00000368801.2	-	3	6492	c.6417A>G	c.(6415-6417)agA>agG	p.R2139R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2139					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTCCTGATCTAGAGCCGT	0.577													8	837	---	---	---	---	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373													6	312	---	---	---	---	0	0
NPHP1	4867	broad.mit.edu	37	2	110922636	110922636	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:110922636T>A	ENST00000316534.4	-	7	794	c.721A>T	c.(721-723)Aag>Tag	p.K241*	NPHP1_ENST00000445609.2_Nonsense_Mutation_p.K241*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.K179*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.K241*|NPHP1_ENST00000393272.3_Nonsense_Mutation_p.K241*			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	241					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TACCTTTGCTTAACTTCTGCT	0.348													14	52	---	---	---	---	0	0
LRP1B	53353	broad.mit.edu	37	2	141108382	141108382	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:141108382G>T	ENST00000389484.3	-	77	12847	c.11876C>A	c.(11875-11877)gCa>gAa	p.A3959E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3959					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCACTGTTTGCTTGCCTTTT	0.318										TSP Lung(27;0.18)			7	38	---	---	---	---	0	0
ZNF142	7701	broad.mit.edu	37	2	219508714	219508714	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:219508714G>C	ENST00000411696.2	-	7	3304	c.2525C>G	c.(2524-2526)cCt>cGt	p.P842R	ZNF142_ENST00000449707.1_Missense_Mutation_p.P842R			P52746	ZN142_HUMAN	zinc finger protein 142	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGTGATAAAAGGGCAGTGTGG	0.627													19	58	---	---	---	---	0	0
PCDH10	57575	broad.mit.edu	37	4	134073272	134073272	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:134073272G>C	ENST00000264360.5	+	1	2803	c.1977G>C	c.(1975-1977)gaG>gaC	p.E659D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGTGATCGAGGTGCGCGACC	0.711													6	23	---	---	---	---	0	0
FGA	2243	broad.mit.edu	37	4	155507041	155507041	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:155507041G>T	ENST00000302053.3	-	5	1618	c.1540C>A	c.(1540-1542)Cct>Act	p.P514T	FGA_ENST00000403106.3_Missense_Mutation_p.P514T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	514					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCTTCATCAGGGTGCCTATGG	0.498													21	69	---	---	---	---	0	0
FSTL5	56884	broad.mit.edu	37	4	162307016	162307016	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:162307016G>T	ENST00000306100.5	-	16	2863	c.2427C>A	c.(2425-2427)taC>taA	p.Y809*	FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Y808*|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Y808*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Y799*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	809						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTGTCATCAGGTATTGACCAA	0.418													33	105	---	---	---	---	0	0
COL28A1	340267	broad.mit.edu	37	7	7514264	7514264	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr7:7514264C>T	ENST00000399429.3	-	15	1410	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	424					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTTGTAATCCCTGTGGGCCA	0.393													5	44	---	---	---	---	0	0
MYPN	84665	broad.mit.edu	37	10	69881645	69881645	+	Silent	SNP	T	T	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr10:69881645T>C	ENST00000358913.5	+	2	938	c.450T>C	c.(448-450)ttT>ttC	p.F150F	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.F150F|MYPN_ENST00000540630.1_Silent_p.F150F	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	150	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAAAAGTATTTTTAAATAAGG	0.458													5	29	---	---	---	---	0	0
MS4A14	84689	broad.mit.edu	37	11	60183438	60183438	+	Missense_Mutation	SNP	C	C	A	rs150784858		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr11:60183438C>A	ENST00000300187.6	+	5	1274	c.997C>A	c.(997-999)Caa>Aaa	p.Q333K	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.Q366K|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q316K|MS4A14_ENST00000531787.1_Missense_Mutation_p.Q221K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	333						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTGTCAGAACAAACCATGCC	0.453													7	32	---	---	---	---	0	0
OR10G8	219869	broad.mit.edu	37	11	123901102	123901102	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr11:123901102A>G	ENST00000431524.1	+	1	806	c.773A>G	c.(772-774)tAc>tGc	p.Y258C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTTTTCATTTACCTGAGGCCA	0.557													19	93	---	---	---	---	0	0
FREM2	341640	broad.mit.edu	37	13	39263438	39263438	+	Silent	SNP	C	C	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:39263438C>T	ENST00000280481.7	+	1	2173	c.1957C>T	c.(1957-1959)Ctg>Ttg	p.L653L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	653					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGAGGGCAGGCTGTTCTATAG	0.532													7	24	---	---	---	---	0	0
PCDH17	27253	broad.mit.edu	37	13	58299274	58299274	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:58299274G>A	ENST00000377918.3	+	4	3352	c.3326G>A	c.(3325-3327)cGg>cAg	p.R1109Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1109					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAGCCAGCCGGGATTCCAGT	0.517													21	80	---	---	---	---	0	0
SCEL	8796	broad.mit.edu	37	13	78167665	78167665	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:78167665A>G	ENST00000535157.1	+	11	813	c.643A>G	c.(643-645)Aac>Gac	p.N215D	SCEL_ENST00000377246.3_Intron|SCEL_ENST00000349847.3_Missense_Mutation_p.N237D	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	237					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GGATCTTGATAACATCGTCAA	0.373													5	34	---	---	---	---	0	0
PDPR	55066	broad.mit.edu	37	16	70176575	70176575	+	Missense_Mutation	SNP	A	A	G	rs2549566	by1000genomes	TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr16:70176575A>G	ENST00000288050.4	+	13	2548	c.1591A>G	c.(1591-1593)Aag>Gag	p.K531E	PDPR_ENST00000398122.3_Missense_Mutation_p.K431E|PDPR_ENST00000568530.1_Missense_Mutation_p.K531E|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	531					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTCTTTCACAAAGTTTGAGAT	0.353													4	73	---	---	---	---	0	0
KRT38	8687	broad.mit.edu	37	17	39595066	39595066	+	Silent	SNP	A	A	G			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr17:39595066A>G	ENST00000246646.3	-	4	776	c.777T>C	c.(775-777)atT>atC	p.I259I		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	259	Linker 12.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGTCCAGCTCAATCCGGAGCT	0.567													4	90	---	---	---	---	0	0
METRNL	284207	broad.mit.edu	37	17	81042876	81042876	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr17:81042876G>T	ENST00000320095.7	+	2	358	c.233G>T	c.(232-234)gGt>gTt	p.G78V	METRNL_ENST00000570778.1_5'UTR|METRNL_ENST00000571814.1_5'UTR	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	78						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TGTGCGGCGGGTGCCGTGGAG	0.642													12	42	---	---	---	---	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000203	73000203	+	Silent	SNP	G	G	A			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr18:73000203G>A	ENST00000322038.5	+	2	3290	c.2706G>A	c.(2704-2706)gtG>gtA	p.V902V	TSHZ1_ENST00000580243.1_Silent_p.V947V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	947						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGGCCAATGTGAAGTACCAGT	0.522													7	26	---	---	---	---	0	0
ZNF554	115196	broad.mit.edu	37	19	2833764	2833764	+	Silent	SNP	A	A	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr19:2833764A>T	ENST00000317243.5	+	5	729	c.531A>T	c.(529-531)atA>atT	p.I177I	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAATATGATAAAGCTTATCA	0.463													3	58	---	---	---	---	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096646	41096646	+	Silent	SNP	G	G	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr19:41096646G>T	ENST00000291842.5	+	17	1828	c.1779G>T	c.(1777-1779)ctG>ctT	p.L593L	SHKBP1_ENST00000600733.1_Silent_p.L568L	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	593						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTGGCCTGACGGAGCAAG	0.662													4	42	---	---	---	---	0	0
ARSF	416	broad.mit.edu	37	X	2990116	2990116	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chrX:2990116C>A	ENST00000381127.1	+	3	282	c.61C>A	c.(61-63)Cag>Aag	p.Q21K	ARSF_ENST00000537104.1_Missense_Mutation_p.Q21K|ARSF_ENST00000359361.2_Missense_Mutation_p.Q21K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	21				CQAHRVHDDK -> WPGHTGCMTTR (in Ref. 1; CAA66462).		extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAACACATGCCAGGCACACAG	0.493													10	12	---	---	---	---	0	0
TENM1	10178	broad.mit.edu	37	X	123514728	123514728	+	Silent	SNP	C	C	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chrX:123514728C>T	ENST00000422452.2	-	32	7920	c.7857G>A	c.(7855-7857)ttG>ttA	p.L2619L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.L2612L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCCTCCCATTCAACACAGAAG	0.522													15	20	---	---	---	---	0	0
RPRD2	23248	broad.mit.edu	37	1	150429782	150429782	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr1:150429782A>T	ENST00000401000.4	+	7	876	c.811A>T	c.(811-813)Aac>Tac	p.N271Y	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.N297Y|RPRD2_ENST00000539519.1_Missense_Mutation_p.N271Y			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	297							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AACCTTTGCTAACCGAGTAAA	0.388													10	49	---	---	---	---	0	0
ASH1L	55870	broad.mit.edu	37	1	155348170	155348170	+	Silent	SNP	A	A	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr1:155348170A>T	ENST00000368346.3	-	10	6888	c.6249T>A	c.(6247-6249)gtT>gtA	p.V2083V	ASH1L_ENST00000392403.3_Silent_p.V2078V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2083					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTTTGACATCAACGTAGACAT	0.413													23	110	---	---	---	---	0	0
MIA3	375056	broad.mit.edu	37	1	222838751	222838751	+	Silent	SNP	A	A	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr1:222838751A>T	ENST00000344922.5	+	28	5539	c.5514A>T	c.(5512-5514)ggA>ggT	p.G1838G	MIA3_ENST00000340535.7_Silent_p.G716G|MIA3_ENST00000344441.6_Silent_p.G1838G|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1838	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TTTTACCTGGACACGCACCAT	0.547													17	301	---	---	---	---	0	0
NDUFB5	4711	broad.mit.edu	37	3	179341804	179341804	+	Silent	SNP	T	T	A			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr3:179341804T>A	ENST00000493866.1	+	4	415	c.390T>A	c.(388-390)tcT>tcA	p.S130S	NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.S170S|NDUFB5_ENST00000259037.3_Silent_p.S182S	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	182					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TTGATCATTCTCCGAAAGCAA	0.333													7	129	---	---	---	---	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22886093	22886093	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr8:22886093C>T	ENST00000276431.4	-	5	783	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.V16I|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.V167I|TNFRSF10B_ENST00000519910.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	167					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CAATCACCGACCTTGACCATC	0.567													5	88	---	---	---	---	0	0
ZFAT	57623	broad.mit.edu	37	8	135524840	135524840	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr8:135524840G>A	ENST00000520727.1	-	15	3502	c.3203C>T	c.(3202-3204)gCa>gTa	p.A1068V	ZFAT_ENST00000429442.2_Missense_Mutation_p.A1068V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A1068V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A1018V|ZFAT_ENST00000377838.3_Missense_Mutation_p.A1080V|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000517307.1_5'UTR	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1080					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCTTCTGTTGCTGTCTAAAT	0.473													6	99	---	---	---	---	0	0
PAX5	5079	broad.mit.edu	37	9	37015117	37015117	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr9:37015117A>G	ENST00000358127.4	-	3	361	c.287T>C	c.(286-288)gTg>gCg	p.V96A	PAX5_ENST00000414447.1_Missense_Mutation_p.V96A|PAX5_ENST00000377853.2_Missense_Mutation_p.V96A|PAX5_ENST00000377847.2_Missense_Mutation_p.V96A|PAX5_ENST00000520281.1_Missense_Mutation_p.V96A|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000520154.1_Missense_Mutation_p.V96A|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377852.2_Missense_Mutation_p.V96A|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.V96A	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	96	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GATTTTTTCCACCACTTTGGG	0.502			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								30	202	---	---	---	---	0	0
HSPA14	51182	broad.mit.edu	37	10	14909224	14909224	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr10:14909224T>C	ENST00000378372.3	+	11	1375	c.1136T>C	c.(1135-1137)aTt>aCt	p.I379T		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	379					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						GGAATTCTTATTGGGAAAGAA	0.383													10	106	---	---	---	---	0	0
RP11-574K11.31	0	broad.mit.edu	37	10	75567743	75567743	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr10:75567743T>C	ENST00000603027.1	-	3	1027	c.404A>G	c.(403-405)tAt>tGt	p.Y135C	NDST2_ENST00000309979.6_Missense_Mutation_p.Y135C|NDST2_ENST00000299641.4_Missense_Mutation_p.Y12C						135																	GACCAAGACATAGCGGCCATG	0.522													11	62	---	---	---	---	0	0
PRMT3	10196	broad.mit.edu	37	11	20515515	20515515	+	Splice_Site	SNP	G	G	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr11:20515515G>T	ENST00000331079.6	+	14	1615	c.1398G>T	c.(1396-1398)agG>agT	p.R466S	PRMT3_ENST00000437750.2_Splice_Site_p.R404S	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	466							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GCCACAACAGGGTAAGTATCA	0.279													16	111	---	---	---	---	0	0
GRIA4	0	broad.mit.edu	37	11	105797470	105797470	+	Silent	SNP	C	C	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr11:105797470C>T	ENST00000393127.2	+	13	2297	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	GRIA4_ENST00000282499.5_Silent_p.S617S|GRIA4_ENST00000530497.1_Silent_p.S617S|GRIA4_ENST00000525187.1_Silent_p.S617S	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	617					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	tgtttagaTCCCTCTCAGGTC	0.363													8	109	---	---	---	---	0	0
SLC6A15	55117	broad.mit.edu	37	12	85270287	85270287	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr12:85270287A>G	ENST00000266682.5	-	6	1397	c.856T>C	c.(856-858)Ttt>Ctt	p.F286L	SLC6A15_ENST00000552192.1_Missense_Mutation_p.F179L|SLC6A15_ENST00000551388.1_5'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	286					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTAGGGGTAAACATGTGGCGA	0.299													5	66	---	---	---	---	0	0
HSPH1	10808	broad.mit.edu	37	13	31727071	31727071	+	Silent	SNP	T	T	G			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:31727071T>G	ENST00000320027.5	-	5	791	c.447A>C	c.(445-447)acA>acC	p.T149T	HSPH1_ENST00000445273.2_Silent_p.T151T|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380406.5_Silent_p.T108T|HSPH1_ENST00000380405.4_Silent_p.T149T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	149					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCTCAGCATCTGTAAAGAAGG	0.358													53	182	---	---	---	---	0	0
RFXAP	5994	broad.mit.edu	37	13	37399674	37399674	+	Splice_Site	SNP	T	T	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:37399674T>C	ENST00000255476.2	+	2	842		c.e2+2		RFXAP_ENST00000472888.1_Splice_Site	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		AAAAGACTGGTAAATATCTGT	0.313													11	47	---	---	---	---	0	0
KDELC1	79070	broad.mit.edu	37	13	103445972	103445972	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:103445972G>C	ENST00000376004.4	-	3	909	c.573C>G	c.(571-573)caC>caG	p.H191Q	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	191						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTAAGGTGTAGTGACATAGGC	0.368													24	105	---	---	---	---	0	0
CUL4A	8451	broad.mit.edu	37	13	113899533	113899533	+	Silent	SNP	C	C	T	rs141571594		TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:113899533C>T	ENST00000451881.1	+	14	1461	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	CUL4A_ENST00000375440.4_Silent_p.I504I|CUL4A_ENST00000326335.4_Silent_p.I404I|CUL4A_ENST00000375441.3_Silent_p.I404I	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	504					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGAAGGACATCATGGTTCATT	0.488													3	54	---	---	---	---	0	0
UNC79	57578	broad.mit.edu	37	14	94053216	94053216	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr14:94053216A>T	ENST00000553484.1	+	22	3148	c.2994A>T	c.(2992-2994)caA>caT	p.Q998H	UNC79_ENST00000256339.4_Missense_Mutation_p.Q821H|UNC79_ENST00000393151.2_Missense_Mutation_p.Q998H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q998H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	998						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCACCCTCAATTTTTAGCCT	0.353													33	141	---	---	---	---	0	0
ZNF839	55778	broad.mit.edu	37	14	102793195	102793195	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr14:102793195G>A	ENST00000262236.5	+	2	1169	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	ZNF839_ENST00000559185.1_Missense_Mutation_p.V272M|ZNF839_ENST00000558850.1_Missense_Mutation_p.V272M|ZNF839_ENST00000442396.2_Missense_Mutation_p.V388M	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	272						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCCTGCTTGGTGACAGAGTC	0.577													4	14	---	---	---	---	0	0
NPAP1	23742	broad.mit.edu	37	15	24923886	24923886	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr15:24923886C>A	ENST00000329468.2	+	1	3346	c.2872C>A	c.(2872-2874)Cct>Act	p.P958T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ATTGGGCACACCTGTTAATGC	0.483													15	92	---	---	---	---	0	0
WDR72	256764	broad.mit.edu	37	15	53907788	53907788	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr15:53907788T>C	ENST00000396328.1	-	15	2854	c.2615A>G	c.(2614-2616)gAt>gGt	p.D872G	WDR72_ENST00000360509.5_Missense_Mutation_p.D872G|WDR72_ENST00000557913.1_Missense_Mutation_p.D869G|WDR72_ENST00000559418.1_Missense_Mutation_p.D882G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	872										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTGTATTTATCTGACAAGTC	0.353													4	90	---	---	---	---	0	0
RASL12	51285	broad.mit.edu	37	15	65347485	65347485	+	Missense_Mutation	SNP	G	G	A	rs148588039	byFrequency	TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr15:65347485G>A	ENST00000220062.4	-	5	829	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RASL12_ENST00000434605.2_Missense_Mutation_p.R174W|RASL12_ENST00000421977.3_Missense_Mutation_p.R166W	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	185					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TCCAGCTCCCGCCGTGCCTCT	0.662													3	16	---	---	---	---	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291297	1291297	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr16:1291297G>T	ENST00000461509.2	+	2	420	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L	TPSAB1_ENST00000338844.3_Missense_Mutation_p.V69L			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	69	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CCCCCAGTGGGTGCTGACCGC	0.706													8	65	---	---	---	---	0	0
GLYR1	84656	broad.mit.edu	37	16	4873833	4873833	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr16:4873833T>C	ENST00000321919.9	-	6	689	c.613A>G	c.(613-615)Acc>Gcc	p.T205A	GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Missense_Mutation_p.T124A|GLYR1_ENST00000591451.1_Missense_Mutation_p.T205A|GLYR1_ENST00000381983.3_Missense_Mutation_p.T205A	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	205					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCGCTTGCGGTTGGCTGCCAT	0.532													32	125	---	---	---	---	0	0
AFG3L2	10939	broad.mit.edu	37	18	12370900	12370900	+	Silent	SNP	T	T	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr18:12370900T>C	ENST00000269143.3	-	3	471	c.240A>G	c.(238-240)ggA>ggG	p.G80G		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	80					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TTCCATTTTTTCCATTAGGAA	0.279													4	24	---	---	---	---	0	0
ZNF521	25925	broad.mit.edu	37	18	22807246	22807246	+	Silent	SNP	C	C	T			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr18:22807246C>T	ENST00000361524.3	-	4	784	c.636G>A	c.(634-636)ctG>ctA	p.L212L	ZNF521_ENST00000538137.2_Silent_p.L212L|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	212					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AACTAGAGGACAGAAACCCAC	0.493			T	PAX5	ALL								13	60	---	---	---	---	0	0
FCGBP	8857	broad.mit.edu	37	19	40362965	40362965	+	Silent	SNP	C	C	A			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:40362965C>A	ENST00000221347.6	-	32	15112	c.15105G>T	c.(15103-15105)gtG>gtT	p.V5035V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5035	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCCAAGCACACTGGGCAGC	0.706													5	40	---	---	---	---	0	0
PRKD2	25865	broad.mit.edu	37	19	47219514	47219514	+	Silent	SNP	G	G	A			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:47219514G>A	ENST00000433867.1	-	2	591	c.114C>T	c.(112-114)atC>atT	p.I38I	PRKD2_ENST00000601806.1_5'UTR|PRKD2_ENST00000291281.4_Silent_p.I38I|PRKD2_ENST00000595515.1_Silent_p.I38I	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	38					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCGGGGCCGGGATCTGGGGCA	0.716													7	61	---	---	---	---	0	0
ZNF83	55769	broad.mit.edu	37	19	53117664	53117664	+	Silent	SNP	A	A	G			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:53117664A>G	ENST00000597597.1	-	2	2407	c.154T>C	c.(154-156)Tta>Cta	p.L52L	ZNF83_ENST00000301096.3_Silent_p.L52L|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.L52L|ZNF83_ENST00000544146.1_Silent_p.L52L|ZNF83_ENST00000536937.1_Silent_p.L52L|ZNF83_ENST00000545872.1_Silent_p.L52L|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.L52L			P51522	ZNF83_HUMAN	zinc finger protein 83	52						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GGGGAAACTAAGGAACTACTG	0.353													13	87	---	---	---	---	0	0
DISC1	27185	broad.mit.edu	37	1	232144704	232144704	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr1:232144704A>G	ENST00000439617.2	+	11	2269	c.2216A>G	c.(2215-2217)gAg>gGg	p.E739G	DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000366637.3_Missense_Mutation_p.E71G|DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000535983.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	739	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTCCACTCCGAGGATAAAAGG	0.537													5	10	---	---	---	---	0	0
SIX3	6496	broad.mit.edu	37	2	45170030	45170030	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:45170030G>A	ENST00000260653.3	+	1	1129	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	263	Poly-Ala.				visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGCGACCGCGCCGCGGCGGC	0.677													5	12	---	---	---	---	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373													4	237	---	---	---	---	0	0
DNAJC10	54431	broad.mit.edu	37	2	183622509	183622509	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:183622509A>G	ENST00000264065.7	+	19	2315	c.1900A>G	c.(1900-1902)Ata>Gta	p.I634V		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10		Thioredoxin 3.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATACCCTGAGATAAGATTTTT	0.308													3	34	---	---	---	---	0	0
SPAG16	79582	broad.mit.edu	37	2	214174863	214174863	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:214174863G>C	ENST00000413312.1	+	3	513	c.267G>C	c.(265-267)atG>atC	p.M89I	SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000331683.5_Missense_Mutation_p.M120I|SPAG16_ENST00000432529.2_Missense_Mutation_p.M120I|SPAG16_ENST00000447990.1_Missense_Mutation_p.M120I|SPAG16_ENST00000272898.7_Missense_Mutation_p.M120I			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	120					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGATCAAAATGGGAATGACCA	0.318													7	41	---	---	---	---	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937445	82937445	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr5:82937445C>T	ENST00000274341.4	-	5	1785	c.935G>A	c.(934-936)gGc>gAc	p.G312D		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	312	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCGGACGCTGCCATCCGCCAA	0.532													24	96	---	---	---	---	0	0
PCDHGA6	0	broad.mit.edu	37	5	140756065	140756065	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr5:140756065G>T	ENST00000517434.1	+	1	2415	c.2415G>T	c.(2413-2415)agG>agT	p.R805S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACCCAGGCAACTTCAGG	0.478													11	28	---	---	---	---	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838015	92838015	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr7:92838015G>A	ENST00000394468.2	-	4	967	c.890C>T	c.(889-891)cCt>cTt	p.P297L	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P285L|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P285L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P320L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	297	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTCTAAGCGAGGCCCATGCTT	0.448													18	48	---	---	---	---	0	0
BAG1	573	broad.mit.edu	37	9	33262714	33262714	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr9:33262714T>A	ENST00000472232.3	-	2	652	c.566A>T	c.(565-567)aAa>aTa	p.K189I	BAG1_ENST00000379704.2_Missense_Mutation_p.K74I	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314	Q99933	BAG1_HUMAN	BCL2-associated athanogene	189	Interaction with HSPA8.|Ubiquitin-like.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			AAATATGAGTTTCTGAAAAGA	0.438													5	25	---	---	---	---	0	0
ODF2	4957	broad.mit.edu	37	9	131231507	131231507	+	Silent	SNP	C	C	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr9:131231507C>T	ENST00000434106.3	+	5	658	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	ODF2_ENST00000546203.1_Silent_p.L80L|ODF2_ENST00000444119.2_Silent_p.L75L|ODF2_ENST00000351030.3_Silent_p.L94L|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000393527.3_Silent_p.L75L|ODF2_ENST00000372814.3_Silent_p.L143L|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000604420.1_Silent_p.L99L|ODF2_ENST00000372791.3_Silent_p.L80L|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372807.5_Silent_p.L94L|ODF2_ENST00000393533.2_Silent_p.L99L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TTCAGAAAAGCTGGTCTCAGT	0.443													10	38	---	---	---	---	0	0
PCDH15	65217	broad.mit.edu	37	10	55955442	55955442	+	Splice_Site	SNP	C	C	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr10:55955442C>T	ENST00000373965.2	-	11	1700		c.e11+1		PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTTAACTTACATCTTCTATG	0.368										HNSCC(58;0.16)			12	26	---	---	---	---	0	0
MEN1	0	broad.mit.edu	37	11	64575501	64575501	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr11:64575501A>T	ENST00000337652.1	-	3	1034	c.531T>A	c.(529-531)gaT>gaA	p.D177E	MEN1_ENST00000394376.1_Missense_Mutation_p.D177E|MEN1_ENST00000377321.1_Missense_Mutation_p.D172E|MEN1_ENST00000394374.2_Missense_Mutation_p.D177E|MEN1_ENST00000312049.6_Missense_Mutation_p.D172E|MEN1_ENST00000377326.3_Missense_Mutation_p.D172E|MEN1_ENST00000377313.1_Missense_Mutation_p.D177E|MEN1_ENST00000443283.1_Missense_Mutation_p.D177E|MEN1_ENST00000315422.4_Missense_Mutation_p.D172E|MEN1_ENST00000377316.2_Missense_Mutation_p.D172E	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	177			D -> Y (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.A167fs*10(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CGAGGTGGACATCCCGGAGAC	0.622			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				8	18	---	---	---	---	0	0
HOXC4	3221	broad.mit.edu	37	12	54448678	54448678	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr12:54448678G>C	ENST00000430889.2	+	2	530	c.484G>C	c.(484-486)Gcc>Ccc	p.A162P	HOXC4_ENST00000303406.4_Missense_Mutation_p.A162P|HOXC4_ENST00000609810.1_Missense_Mutation_p.A162P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CTCGAGGACAGCCTATACCCG	0.572													7	22	---	---	---	---	0	0
RNF17	56163	broad.mit.edu	37	13	25348980	25348980	+	Silent	SNP	C	C	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr13:25348980C>T	ENST00000255324.5	+	3	307	c.255C>T	c.(253-255)cgC>cgT	p.R85R	RNF17_ENST00000381921.1_Silent_p.R85R|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Silent_p.R85R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	85					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTAGACAACGCTACTACCCAA	0.353													5	26	---	---	---	---	0	0
LCP1	3936	broad.mit.edu	37	13	46733779	46733779	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr13:46733779A>G	ENST00000398576.2	-	5	407	c.19T>C	c.(19-21)Tcc>Ccc	p.S7P	LCP1_ENST00000323076.2_Missense_Mutation_p.S7P|LCP1_ENST00000460190.1_5'UTR			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	7					regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCTCATCGGACACTGATCCT	0.403			T	BCL6	NHL								10	39	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696689	47696689	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr17:47696689A>T	ENST00000393331.3	-	6	729	c.259T>A	c.(259-261)Tac>Aac	p.Y87N	SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.Y87N(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGTAACAGGTAAAGTGACAGG	0.403										Prostate(2;0.17)			19	55	---	---	---	---	0	0
MBD1	4152	broad.mit.edu	37	18	47801395	47801395	+	Silent	SNP	G	G	A			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr18:47801395G>A	ENST00000591416.1	-	10	1361	c.930C>T	c.(928-930)ccC>ccT	p.P310P	MBD1_ENST00000457839.2_Silent_p.P335P|MBD1_ENST00000269468.5_Silent_p.P310P|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000585595.1_Silent_p.P335P|MBD1_ENST00000398493.1_Silent_p.P310P|MBD1_ENST00000349085.2_Silent_p.P310P|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000585672.1_Silent_p.P261P|MBD1_ENST00000590208.1_Silent_p.P310P|MBD1_ENST00000382948.5_Silent_p.P310P|MBD1_ENST00000339998.6_Silent_p.P310P|MBD1_ENST00000398488.1_Silent_p.P310P|MBD1_ENST00000424334.2_Silent_p.P361P|MBD1_ENST00000398495.2_Silent_p.P335P|MBD1_ENST00000347968.3_Silent_p.P310P|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000353909.3_Silent_p.P261P|MBD1_ENST00000587605.1_Silent_p.P310P			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	310	Pro-rich.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CAGGTGGCGAGGGGGCCAGGG	0.602													7	30	---	---	---	---	0	0
ZNF285	26974	broad.mit.edu	37	19	44891979	44891979	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:44891979T>C	ENST00000330997.4	-	4	492	c.428A>G	c.(427-429)cAg>cGg	p.Q143R	ZNF285_ENST00000544719.2_Missense_Mutation_p.Q143R|ZNF285_ENST00000591679.1_Missense_Mutation_p.Q150R|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGTAAGAACCTGTGTCAGGCT	0.413													26	104	---	---	---	---	0	0
TBC1D17	79735	broad.mit.edu	37	19	50386969	50386969	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:50386969A>C	ENST00000221543.5	+	10	1392	c.1093A>C	c.(1093-1095)Aac>Cac	p.N365H	TBC1D17_ENST00000535102.2_Missense_Mutation_p.N332H	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	365	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GGAGCGGAGAAACTCACTTCT	0.567													10	39	---	---	---	---	0	0
ZNF468	90333	broad.mit.edu	37	19	53344800	53344800	+	Silent	SNP	G	G	A			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:53344800G>A	ENST00000595646.1	-	4	867	c.747C>T	c.(745-747)ggC>ggT	p.G249G	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.G196G|ZNF468_ENST00000396409.4_Silent_p.G196G			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TAAAGACCTTGCCACATACAT	0.378													12	45	---	---	---	---	0	0
NLRP4	147945	broad.mit.edu	37	19	56369989	56369989	+	Silent	SNP	C	C	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:56369989C>T	ENST00000301295.6	+	3	1652	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	NLRP4_ENST00000346986.5_Silent_p.D410D|NLRP4_ENST00000587891.1_Silent_p.D335D	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	410	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTGGACAGACACATTTGAGT	0.577													18	39	---	---	---	---	0	0
MYO18B	84700	broad.mit.edu	37	22	26422469	26422469	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr22:26422469G>A	ENST00000335473.7	+	43	6779	c.6529G>A	c.(6529-6531)Gcc>Acc	p.A2177T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A2177T|MYO18B_ENST00000407587.2_Missense_Mutation_p.A2178T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2177						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACTGAGCAGAGCCCGGTCCAC	0.527													19	67	---	---	---	---	0	0
XIST	0	broad.mit.edu	37	X	73062517	73062517	+	RNA	SNP	C	C	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chrX:73062517C>T	ENST00000429829.1	-	0	10071					NR_001564.2																						AGAAGCAATGCGAAAGGAAGT	0.438													4	9	---	---	---	---	0	0
WDR77	79084	broad.mit.edu	37	1	111983955	111983955	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:111983955T>C	ENST00000235090.5	-	10	1132	c.926A>G	c.(925-927)aAt>aGt	p.N309S	WDR77_ENST00000411751.2_Missense_Mutation_p.N245S|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	309					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGGGAGTGATTGAGCGGGGA	0.532													13	43	---	---	---	---	0	0
INSRR	3645	broad.mit.edu	37	1	156819190	156819190	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:156819190G>A	ENST00000368195.3	-	6	1688	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	431					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTGAGCCCCGCGGCCACCCA	0.622													14	49	---	---	---	---	0	0
MARK1	4139	broad.mit.edu	37	1	220791998	220791998	+	Silent	SNP	A	A	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:220791998A>G	ENST00000402574.1	+	9	1407	c.405A>G	c.(403-405)ttA>ttG	p.L135L	MARK1_ENST00000366917.4_Silent_p.L270L|MARK1_ENST00000366918.4_Silent_p.L248L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	270	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGCGAGTTTTACGAGGGAAGT	0.353													23	36	---	---	---	---	0	0
TLR5	7100	broad.mit.edu	37	1	223284141	223284141	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:223284141G>T	ENST00000540964.1	-	4	2694	c.2233C>A	c.(2233-2235)Cag>Aag	p.Q745K	TLR5_ENST00000342210.6_Missense_Mutation_p.Q745K			O60602	TLR5_HUMAN	toll-like receptor 5	745	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		ATGGCATCCTGGATATTGGCA	0.473													3	21	---	---	---	---	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394212	233394212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:233394212G>A	ENST00000258229.9	-	5	1630	c.1396C>T	c.(1396-1398)Cag>Tag	p.Q466*	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCAGAACACTGATTGGTGGAT	0.572													11	11	---	---	---	---	0	0
NCOA1	8648	broad.mit.edu	37	2	24990954	24990954	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:24990954A>C	ENST00000405141.1	+	24	4873	c.4162A>C	c.(4162-4164)Aag>Cag	p.K1388Q	NCOA1_ENST00000407230.1_Missense_Mutation_p.K1237Q|NCOA1_ENST00000406961.1_Intron|NCOA1_ENST00000395856.3_Intron|NCOA1_ENST00000348332.3_Intron|NCOA1_ENST00000538539.1_Missense_Mutation_p.K1388Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.K1388Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1388									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGGACAAGAAGACAGAAGA	0.438			T	PAX3	alveolar rhadomyosarcoma								31	97	---	---	---	---	0	0
TANK	10010	broad.mit.edu	37	2	162091959	162091959	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:162091959T>C	ENST00000392749.2	+	8	1447	c.1208T>C	c.(1207-1209)tTc>tCc	p.F403S	AC009299.2_ENST00000421122.2_RNA|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_3'UTR|TANK_ENST00000259075.2_Missense_Mutation_p.F403S	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	403						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CAAGCAGTTTTCCCACCATCC	0.433													30	71	---	---	---	---	0	0
GAD1	2571	broad.mit.edu	37	2	171700581	171700581	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:171700581T>C	ENST00000358196.3	+	7	1215	c.665T>C	c.(664-666)tTt>tCt	p.F222S	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	222					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCACCAGTGTTTGTCCTCATG	0.368													9	22	---	---	---	---	0	0
ADAM23	8745	broad.mit.edu	37	2	207414876	207414876	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:207414876C>G	ENST00000264377.3	+	9	1253	c.925C>G	c.(925-927)Cac>Gac	p.H309D	ADAM23_ENST00000374415.3_Missense_Mutation_p.H309D|ADAM23_ENST00000374416.1_Missense_Mutation_p.H309D	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	309	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGTTAATGATCACAAAACGGT	0.269													10	24	---	---	---	---	0	0
CP	1356	broad.mit.edu	37	3	148916153	148916153	+	Splice_Site	SNP	C	C	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr3:148916153C>G	ENST00000264613.6	-	9	1976		c.e9+1		CP_ENST00000462336.1_Splice_Site	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTTGGACTTACCTGTCTCCCA	0.338													13	32	---	---	---	---	0	0
NOA1	84273	broad.mit.edu	37	4	57842862	57842862	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr4:57842862C>A	ENST00000264230.4	-	1	2127	c.890G>T	c.(889-891)gGg>gTg	p.G297V		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	297							GTP binding										CGGATTCTCCCCGTCCTGTGG	0.677													4	29	---	---	---	---	0	0
FNIP1	96459	broad.mit.edu	37	5	131008040	131008040	+	Silent	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:131008040T>C	ENST00000307968.7	-	13	2012	c.2013A>G	c.(2011-2013)ttA>ttG	p.L671L	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.L654L|FNIP1_ENST00000510461.1_Silent_p.L699L	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CTGTTGACTCTAAGCCTGACT	0.428													56	148	---	---	---	---	0	0
MYOT	9499	broad.mit.edu	37	5	137219277	137219277	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:137219277C>A	ENST00000239926.4	+	7	1395	c.1021C>A	c.(1021-1023)Ctt>Att	p.L341I	RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.L157I|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.L226I|MYOT_ENST00000509812.1_Intron	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	341	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTGGATGTCCTTGGTAAGCC	0.413													3	28	---	---	---	---	0	0
PCDHA12	0	broad.mit.edu	37	5	140256423	140256423	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:140256423G>A	ENST00000398631.2	+	1	1366	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1												p.A456T(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCGTTCGCGCAGCCCGA	0.662													36	114	---	---	---	---	0	0
TDRD6	221400	broad.mit.edu	37	6	46658755	46658755	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr6:46658755A>C	ENST00000544460.1	+	1	3144	c.2890A>C	c.(2890-2892)Aag>Cag	p.K964Q	TDRD6_ENST00000316081.6_Missense_Mutation_p.K964Q	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	964					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAAACTTCAGAAGCCTTTGGA	0.363													25	58	---	---	---	---	0	0
FAM83B	222584	broad.mit.edu	37	6	54806506	54806506	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr6:54806506A>G	ENST00000306858.7	+	5	2853	c.2737A>G	c.(2737-2739)Act>Gct	p.T913A		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	913										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGAAGACCTACTTCTTCTCC	0.463													20	45	---	---	---	---	0	0
MUC17	140453	broad.mit.edu	37	7	100679721	100679721	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:100679721C>A	ENST00000306151.4	+	3	5088	c.5024C>A	c.(5023-5025)gCt>gAt	p.A1675D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1675	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTACACCTGCTGAAGGTACC	0.493													61	186	---	---	---	---	0	0
BRAF	673	broad.mit.edu	37	7	140481405	140481405	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:140481405A>C	ENST00000288602.6	-	11	1463	c.1403T>G	c.(1402-1404)tTt>tGt	p.F468C		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	468	Protein kinase.		F -> S (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.F468S(1)|p.F468C(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GACTGTTCCAAATGATCCAGA	0.378		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				12	57	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151860195	151860195	+	Silent	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:151860195T>C	ENST00000355193.2	-	43	10685	c.10467A>G	c.(10465-10467)caA>caG	p.Q3489Q	KMT2C_ENST00000262189.6_Silent_p.Q3489Q					lysine (K)-specific methyltransferase 2C																		TTGATCCTTGTTGTATATTCT	0.463													28	96	---	---	---	---	0	0
GLE1	2733	broad.mit.edu	37	9	131296231	131296231	+	Splice_Site	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr9:131296231G>A	ENST00000309971.4	+	11	1752		c.e11+1		GLE1_ENST00000372770.4_Splice_Site|GLE1_ENST00000539582.1_Splice_Site|RP11-216B9.6_ENST00000434999.1_RNA	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator						poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						ACTATCAGAGGTAAAGTTGTT	0.398													24	43	---	---	---	---	0	0
PFKP	5214	broad.mit.edu	37	10	3177927	3177927	+	Splice_Site	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr10:3177927G>A	ENST00000381075.2	+	23	2322		c.e23-1		PFKP_ENST00000381072.1_Splice_Site|PFKP_ENST00000381125.4_Splice_Site	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet						glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ATCTTTTATAGGAAAAAAATT	0.408													11	44	---	---	---	---	0	0
ZFAND4	93550	broad.mit.edu	37	10	46113586	46113586	+	Splice_Site	SNP	G	G	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr10:46113586G>C	ENST00000374366.3	-	10	2292		c.e10+1		ZFAND4_ENST00000344646.5_Splice_Site|ZFAND4_ENST00000374371.2_Splice_Site|ZFAND4_ENST00000374370.1_Splice_Site	NM_001282905.1|NM_001282906.1	NP_001269834.1|NP_001269835.1	Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4								zinc ion binding										TCGCCAACCTGCCTGCATTCG	0.408													12	29	---	---	---	---	0	0
DDX6	1656	broad.mit.edu	37	11	118635928	118635928	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:118635928A>C	ENST00000264018.4	-	6	940	c.635T>G	c.(634-636)cTt>cGt	p.L212R	DDX6_ENST00000534980.1_Missense_Mutation_p.L212R|DDX6_ENST00000526070.2_Missense_Mutation_p.L212R	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	212	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TGTATCATCAAGCCTCATTAT	0.368			T	IGH@	B-NHL								62	166	---	---	---	---	0	0
DCN	1634	broad.mit.edu	37	12	91572146	91572146	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:91572146G>T	ENST00000551354.1	-	2	388	c.184C>A	c.(184-186)Ctt>Att	p.L62I	DCN_ENST00000546745.1_Missense_Mutation_p.L62I|DCN_ENST00000547568.2_Missense_Mutation_p.L62I|DCN_ENST00000546370.1_Missense_Mutation_p.L62I|DCN_ENST00000303320.3_Missense_Mutation_p.L62I|DCN_ENST00000456569.2_Missense_Mutation_p.L62I|DCN_ENST00000552962.1_Missense_Mutation_p.L62I|DCN_ENST00000425043.1_Missense_Mutation_p.L62I|DCN_ENST00000441303.2_Missense_Mutation_p.L62I|DCN_ENST00000550099.1_Missense_Mutation_p.L62I|DCN_ENST00000393155.1_Missense_Mutation_p.L62I|DCN_ENST00000420120.2_Missense_Mutation_p.L62I|DCN_ENST00000228329.5_Missense_Mutation_p.L62I|DCN_ENST00000052754.5_Missense_Mutation_p.L62I			P07585	PGS2_HUMAN	decorin	62	Cys-rich.				organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ACCACTCGAAGATGGCATTGA	0.512											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	58	---	---	---	---	0	0
SLC17A8	246213	broad.mit.edu	37	12	100811862	100811862	+	Silent	SNP	G	G	T	rs145178639	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:100811862G>T	ENST00000323346.5	+	11	1666	c.1353G>T	c.(1351-1353)ggG>ggT	p.G451G	SLC17A8_ENST00000392989.3_Silent_p.G401G|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	451					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTCATGGGGATCTCAAACG	0.488													25	103	---	---	---	---	0	0
BTBD11	121551	broad.mit.edu	37	12	107914363	107914363	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:107914363C>A	ENST00000280758.5	+	2	1763	c.1235C>A	c.(1234-1236)aCc>aAc	p.T412N	BTBD11_ENST00000420571.2_Missense_Mutation_p.T412N|BTBD11_ENST00000490090.2_Missense_Mutation_p.T412N	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	412						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGCTGAGGACCATCGAGCAG	0.562													13	52	---	---	---	---	0	0
LINC00173	0	broad.mit.edu	37	12	116972454	116972454	+	RNA	SNP	C	C	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:116972454C>G	ENST00000480237.1	+	0	725					NR_027345.1																						CCGTACAGCACGATGATTACA	0.448													13	57	---	---	---	---	0	0
SACS	26278	broad.mit.edu	37	13	23914995	23914995	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr13:23914995T>A	ENST00000382298.3	-	10	3608	c.3020A>T	c.(3019-3021)gAa>gTa	p.E1007V	SACS_ENST00000382292.3_Missense_Mutation_p.E1007V|SACS_ENST00000402364.1_Missense_Mutation_p.E257V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1007					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTTACCTCTTCATGTGAATA	0.328													29	100	---	---	---	---	0	0
TMCO3	55002	broad.mit.edu	37	13	114203965	114203965	+	Silent	SNP	C	C	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr13:114203965C>G	ENST00000375391.1	+	8	1553	c.1242C>G	c.(1240-1242)ctC>ctG	p.L414L	TMCO3_ENST00000434316.2_3'UTR			Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	0						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GAACAGCCCTCTAGCAGAGCG	0.498													4	13	---	---	---	---	0	0
ATG14	22863	broad.mit.edu	37	14	55844786	55844786	+	Silent	SNP	A	A	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr14:55844786A>G	ENST00000247178.5	-	8	1037	c.1002T>C	c.(1000-1002)ttT>ttC	p.F334F		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	334					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TTTCGCCACAAAATTCACTGT	0.289													8	34	---	---	---	---	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77492213	77492213	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr14:77492213C>A	ENST00000238647.3	-	1	2821	c.1923G>T	c.(1921-1923)aaG>aaT	p.K641N		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	641						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						AACTGCCATCCTTGGGCGAGT	0.682													7	26	---	---	---	---	0	0
PAK6	56924	broad.mit.edu	37	15	40558520	40558520	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr15:40558520C>T	ENST00000455577.2	+	5	1594	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	PAK6_ENST00000441369.1_Missense_Mutation_p.R228W|PAK6_ENST00000453867.1_Missense_Mutation_p.R228W|PAK6_ENST00000542403.2_Missense_Mutation_p.R228W|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R228W|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.R228W	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	228	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TGAGGAGGCCCGGCCACAGTC	0.672													6	15	---	---	---	---	0	0
SV2B	9899	broad.mit.edu	37	15	91827401	91827401	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr15:91827401A>G	ENST00000394232.1	+	11	2128	c.1658A>G	c.(1657-1659)aAc>aGc	p.N553S	SV2B_ENST00000545111.2_Missense_Mutation_p.N402S|SV2B_ENST00000330276.4_Missense_Mutation_p.N553S	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	553					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTACCCGGGAACATCATTTCT	0.537													22	85	---	---	---	---	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568326	7568326	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:7568326G>A	ENST00000340209.4	+	2	517	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	RBFOX1_ENST00000550418.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A105T|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A112T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A89T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A89T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A89T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A112T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A105T			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	69					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.A89T(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GTACCCTCCCGCCCAGACGCA	0.642													36	103	---	---	---	---	0	0
SF3B3	23450	broad.mit.edu	37	16	70602298	70602298	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:70602298T>C	ENST00000302516.5	+	22	3276	c.3065T>C	c.(3064-3066)aTc>aCc	p.I1022T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1022					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AACCAGCTTATCATCTTTGCT	0.468													28	66	---	---	---	---	0	0
APRT	353	broad.mit.edu	37	16	88878005	88878005	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:88878005G>C	ENST00000378364.3	-	2	184	c.140C>G	c.(139-141)gCg>gGg	p.A47G	APRT_ENST00000426324.2_Missense_Mutation_p.A47G|APRT_ENST00000563655.1_Missense_Mutation_p.A47G	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	47					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CAGGTGTCGCGCCAGGAGGCC	0.721													4	7	---	---	---	---	0	0
GLOD4	51031	broad.mit.edu	37	17	663460	663460	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:663460T>A	ENST00000301329.6	-	9	935	c.850A>T	c.(850-852)Agt>Tgt	p.S284C	GLOD4_ENST00000536578.1_Missense_Mutation_p.S275C|GLOD4_ENST00000301328.5_Missense_Mutation_p.S299C	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	299						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CACTCGTCACTTTTATCTGCT	0.428													18	48	---	---	---	---	0	0
DHRS7C	201140	broad.mit.edu	37	17	9676090	9676090	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:9676090A>G	ENST00000330255.5	-	5	736	c.724T>C	c.(724-726)Tgg>Cgg	p.W242R	DHRS7C_ENST00000571134.1_Missense_Mutation_p.W241R	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C							extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCACATTTCCAAATGGAAGCT	0.557													9	36	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:47696424G>T	ENST00000393331.3	-	7	869	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)			36	87	---	---	---	---	0	0
GH1	2688	broad.mit.edu	37	17	61995198	61995198	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:61995198G>T	ENST00000323322.5	-	4	420	c.378C>A	c.(376-378)agC>agA	p.S126R	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.S111R|GH1_ENST00000351388.4_Missense_Mutation_p.S86R|GH1_ENST00000342364.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	126					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CGTACACCAGGCTGTTGGCGA	0.612													20	65	---	---	---	---	0	0
ZNF571	51276	broad.mit.edu	37	19	38056575	38056575	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:38056575T>G	ENST00000328550.2	-	4	854	c.755A>C	c.(754-756)gAa>gCa	p.E252A	ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E252A|ZNF571_ENST00000451802.2_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000358744.3_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000586139.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	252			E -> D (in dbSNP:rs28512414).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTTACATTCATATGGTTT	0.368													14	22	---	---	---	---	0	0
PSG3	5671	broad.mit.edu	37	19	43244510	43244510	+	Silent	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:43244510G>A	ENST00000327495.5	-	1	211	c.27C>T	c.(25-27)tgC>tgT	p.C9C	PSG3_ENST00000595140.1_Silent_p.C9C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	9					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGCGCTGTGTGCAGGGAGGGG	0.607													44	113	---	---	---	---	0	0
ERCC2	2068	broad.mit.edu	37	19	45856355	45856355	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:45856355T>C	ENST00000391945.4	-	19	1894	c.1817A>G	c.(1816-1818)gAg>gGg	p.E606G	ERCC2_ENST00000391944.3_Missense_Mutation_p.E528G	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	606	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GTCGATTCCCTCGGACACTTT	0.642			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				19	40	---	---	---	---	0	0
FRG1B	0	broad.mit.edu	37	20	29632688	29632688	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr20:29632688A>G	ENST00000278882.3	+	8	883	c.503A>G	c.(502-504)aAa>aGa	p.K168R	FRG1B_ENST00000358464.4_Missense_Mutation_p.K168R																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGGCTCAGAAAGATGGATTT	0.318													23	604	---	---	---	---	0	0
BTG3	10950	broad.mit.edu	37	21	18966461	18966461	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr21:18966461G>A	ENST00000339775.6	-	6	994	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	BTG3_ENST00000348354.6_Missense_Mutation_p.H237Y	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	237					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		CGGTCACAATGCATTCCAGGA	0.413													22	55	---	---	---	---	0	0
TTC22	55001	broad.mit.edu	37	1	55266618	55266618	+	Silent	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr1:55266618G>A	ENST00000371276.4	-	1	322	c.219C>T	c.(217-219)ggC>ggT	p.G73G	TTC22_ENST00000371274.4_Silent_p.G73G	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	73							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						ATGCGAAAGCGCCCAGGAGGT	0.711													3	7	---	---	---	---	0	0
BIRC6	57448	broad.mit.edu	37	2	32740210	32740210	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr2:32740210T>A	ENST00000421745.2	+	55	10856	c.10722T>A	c.(10720-10722)caT>caA	p.H3574Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3574					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGCAATGTCATCATAGACTGT	0.418													5	15	---	---	---	---	0	0
OR5K3	403277	broad.mit.edu	37	3	98109899	98109899	+	Silent	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:98109899G>A	ENST00000383695.1	+	1	390	c.390G>A	c.(388-390)ctG>ctA	p.L130L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GCAACCCACTGCAGTACCACA	0.473													16	67	---	---	---	---	0	0
ZNF827	152485	broad.mit.edu	37	4	146686246	146686246	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr4:146686246G>A	ENST00000508784.1	-	13	3351	c.3124C>T	c.(3124-3126)Ctc>Ttc	p.L1042F	ZNF827_ENST00000513320.1_Missense_Mutation_p.L692F|ZNF827_ENST00000379448.4_Missense_Mutation_p.L1042F			Q17R98	ZN827_HUMAN	zinc finger protein 827	1042					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CGGGTGATGAGGTGTATCTGC	0.502													8	50	---	---	---	---	0	0
PCDHB7	0	broad.mit.edu	37	5	140553634	140553634	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:140553634G>C	ENST00000231137.3	+	1	1392	c.1218G>C	c.(1216-1218)gaG>gaC	p.E406D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		406	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTAACAGAGAAACCTTTGG	0.502													11	33	---	---	---	---	0	0
HDAC3	8841	broad.mit.edu	37	5	141009253	141009253	+	Silent	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:141009253G>C	ENST00000305264.3	-	6	553	c.474C>G	c.(472-474)ctC>ctG	p.L158L		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	158	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTACTTACTTGAGCAGCTCCA	0.532													9	57	---	---	---	---	0	0
FAT2	2196	broad.mit.edu	37	5	150922533	150922533	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:150922533G>C	ENST00000261800.5	-	9	8167	c.8155C>G	c.(8155-8157)Caa>Gaa	p.Q2719E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2719	Cadherin 24.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGGATCTTGAGCTGCCACT	0.478													34	72	---	---	---	---	0	0
GRIA1	0	broad.mit.edu	37	5	153144077	153144077	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:153144077C>A	ENST00000285900.5	+	12	2250	c.1907C>A	c.(1906-1908)gCc>gAc	p.A636D	GRIA1_ENST00000518142.1_Missense_Mutation_p.A556D|GRIA1_ENST00000340592.5_Missense_Mutation_p.A636D|GRIA1_ENST00000518783.1_Missense_Mutation_p.A646D|GRIA1_ENST00000521843.2_Missense_Mutation_p.A567D|GRIA1_ENST00000448073.4_Missense_Mutation_p.A646D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	636					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AATCTGGCCGCCTTCCTGACC	0.547													3	47	---	---	---	---	0	0
MYLK4	340156	broad.mit.edu	37	6	2680489	2680489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr6:2680489G>A	ENST00000274643.7	-	8	1066	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	MYLK4_ENST00000268446.5_Intron	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	242	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ATTTTTATTTGCTTAGCATCC	0.418													21	80	---	---	---	---	0	0
TNXB	7148	broad.mit.edu	37	6	32013021	32013021	+	Silent	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr6:32013021G>A	ENST00000375244.3	-	32	10890	c.10689C>T	c.(10687-10689)acC>acT	p.T3563T	TNXB_ENST00000375247.2_Silent_p.T3561T|TNXB_ENST00000451343.1_5'UTR			P22105	TENX_HUMAN	tenascin XB	3608	Fibronectin type-III 27.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTCGGTCACGGTCAGCACTC	0.647													3	25	---	---	---	---	0	0
PAPOLB	56903	broad.mit.edu	37	7	4901353	4901353	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr7:4901353G>A	ENST00000404991.1	-	1	272	c.86C>T	c.(85-87)gCg>gTg	p.A29V	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	29					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTTGGGGACCGCTAGACTGAT	0.627													4	16	---	---	---	---	0	0
FREM1	158326	broad.mit.edu	37	9	14805023	14805023	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr9:14805023C>A	ENST00000380881.4	-	20	4220	c.3405G>T	c.(3403-3405)gaG>gaT	p.E1135D	FREM1_ENST00000422223.2_Missense_Mutation_p.E1134D|FREM1_ENST00000380880.3_Missense_Mutation_p.E1134D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1134					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAAATGGTATCTCCAAGGAGT	0.413													3	51	---	---	---	---	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111734982	111734982	+	Silent	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr9:111734982G>C	ENST00000374595.4	-	9	1399	c.1320C>G	c.(1318-1320)ctC>ctG	p.L440L	CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325551.4_Silent_p.L440L|CTNNAL1_ENST00000325580.6_Intron			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	440					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TCTGTTCAGAGAGTTTACAGG	0.338													3	64	---	---	---	---	0	0
GSTO1	9446	broad.mit.edu	37	10	106014945	106014945	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr10:106014945C>G	ENST00000369713.5	+	2	253	c.59C>G	c.(58-60)cCg>cGg	p.P20R	GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Missense_Mutation_p.P20R|GSTO1_ENST00000539281.1_5'UTR	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	20					xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	GGGCCGGTCCCGGAGGGCTCG	0.687													5	31	---	---	---	---	0	0
FREM2	341640	broad.mit.edu	37	13	39438593	39438593	+	Silent	SNP	T	T	G			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr13:39438593T>G	ENST00000280481.7	+	16	8049	c.7833T>G	c.(7831-7833)ccT>ccG	p.P2611P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2611					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGACATATCCTTACCAGTACA	0.438													19	78	---	---	---	---	0	0
PCNX	22990	broad.mit.edu	37	14	71540394	71540394	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr14:71540394T>C	ENST00000304743.2	+	27	5431	c.4985T>C	c.(4984-4986)cTa>cCa	p.L1662P	PCNX_ENST00000238570.5_Missense_Mutation_p.L1590P|PCNX_ENST00000439984.3_Missense_Mutation_p.L1551P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1662						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGCGATGGCTAGCTTGGGAA	0.418													22	84	---	---	---	---	0	0
DCAF4	26094	broad.mit.edu	37	14	73418524	73418524	+	Silent	SNP	C	C	T			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr14:73418524C>T	ENST00000553457.1	+	8	737	c.447C>T	c.(445-447)ctC>ctT	p.L149L	DCAF4_ENST00000509153.1_Silent_p.L188L|DCAF4_ENST00000555042.1_Silent_p.L249L|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000358377.2_Silent_p.L249L|DCAF4_ENST00000394234.2_Silent_p.L149L			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	249						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TCATGGGACTCGCAGAGACTC	0.517													6	118	---	---	---	---	0	0
RFWD3	55159	broad.mit.edu	37	16	74670338	74670338	+	Silent	SNP	T	T	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr16:74670338T>C	ENST00000361070.4	-	8	1429	c.1332A>G	c.(1330-1332)gtA>gtG	p.V444V	RFWD3_ENST00000571750.1_Silent_p.V444V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	444					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGCCTGAGATACTGTGAAGG	0.547													7	43	---	---	---	---	0	0
FAM209A	200232	broad.mit.edu	37	20	55099933	55099933	+	Silent	SNP	T	T	G			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr20:55099933T>G	ENST00000371328.3	+	1	392	c.69T>G	c.(67-69)tcT>tcG	p.S23S	FAM209A_ENST00000481560.1_Intron|GCNT7_ENST00000243913.4_Intron	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A																		TTATGTTCTCTTCTCTGAGAC	0.537													15	63	---	---	---	---	0	0
SUN2	25777	broad.mit.edu	37	22	39147338	39147338	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr22:39147338G>C	ENST00000405510.1	-	4	521	c.163C>G	c.(163-165)Cca>Gca	p.P55A	SUN2_ENST00000216064.4_Missense_Mutation_p.P55A|SUN2_ENST00000411587.2_Missense_Mutation_p.P90A|SUN2_ENST00000405018.1_Missense_Mutation_p.P55A|SUN2_ENST00000406622.1_Missense_Mutation_p.P55A	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	55	LMNA-binding (By similarity).|Ser-rich.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TGTGGCGCTGGGGACAGGCGC	0.617													12	34	---	---	---	---	0	0
SI	6476	broad.mit.edu	37	3	164712161	164712161	+	Frame_Shift_Del	DEL	A	A	-	rs148726149		TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr3:164712161delA	ENST00000264382.3	-	41	4787	c.4725delT	c.(4723-4725)tttfs	p.F1575fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1575	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACATTTCAGCAAAAGTTTCAT	0.328										HNSCC(35;0.089)			7	187	---	---	---	---	0	0
RP11-305B6.3	0	broad.mit.edu	37	14	44589519	44589520	+	RNA	DEL	TC	TC	-			TCGA-2A-A8W1-01A-11D-A377-08	TCGA-2A-A8W1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaee15be-7d62-47c8-bd51-6468b83855e4	1b8d7af8-3100-4f69-9f2c-4916afd1298b	g.chr14:44589519_44589520delTC	ENST00000553827.1	-	0	69																											TTGGAGTTCTTCAGCAGATTCT	0.391													17	34	---	---	---	---	0	0
ALMS1	7840	broad.mit.edu	37	2	73835695	73835696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:73835695_73835696insA	ENST00000264448.6	+	22	12564_12565	c.12453_12454insA	c.(12454-12456)aaafs	p.K4152fs	ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.K4110fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4152					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCAGCTATATAAAAAGGTCAG	0.426													7	25	---	---	---	---	0	0
PDZRN3	23024	broad.mit.edu	37	3	73437147	73437148	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr3:73437147_73437148insA	ENST00000263666.4	-	8	1603_1604	c.1489_1490insT	c.(1489-1491)tcafs	p.S497fs	PDZRN3_ENST00000466780.1_Frame_Shift_Ins_p.S154fs|PDZRN3_ENST00000462146.2_Frame_Shift_Ins_p.S154fs|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Frame_Shift_Ins_p.S214fs|PDZRN3_ENST00000535920.1_Frame_Shift_Ins_p.S219fs	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	497	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AATCAGCAATGAAAAGTTTTTA	0.421													265	502	---	---	---	---	0	0
FAT2	2196	broad.mit.edu	37	5	150886733	150886733	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:150886733delA	ENST00000261800.5	-	22	12511	c.12499delT	c.(12499-12501)tggfs	p.W4167fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4167					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCTGGACCAGGTTCTCTTA	0.557													57	163	---	---	---	---	0	0
RP11-468E2.4	0	broad.mit.edu	37	14	24621084	24621085	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:24621084_24621085delGA	ENST00000558468.1	+	3	438_439	c.438_439delGA	c.(436-441)aggaacfs	p.N147fs	RNF31_ENST00000559275.1_Frame_Shift_Del_p.N521fs|RNF31_ENST00000324103.6_Frame_Shift_Del_p.N672fs|RNF31_ENST00000382687.3_Frame_Shift_Del_p.N521fs																							AGACACCCAGGAACTATGAGTT	0.634													29	213	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38061220	38061225	+	In_Frame_Del	DEL	CGTTCT	CGTTCT	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:38061220_38061225delCGTTCT	ENST00000250448.2	-	2	825_830	c.764_769delAGAACG	c.(763-771)gagaacggc>ggc	p.EN255del	FOXA1_ENST00000540786.1_In_Frame_Del_p.EN222del|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	255					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGTAGCAGCCGTTCTCGAACATGTT	0.694													12	24	---	---	---	---	0	0
OSER1	51526	broad.mit.edu	37	20	42831694	42831697	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:42831694_42831697delACAG	ENST00000372970.2	-	5	275_278	c.95_98delCTGT	c.(94-99)tctgttfs	p.SV32fs	OSER1_ENST00000255174.2_Frame_Shift_Del_p.SV32fs					oxidative stress responsive serine-rich 1																		GCCTTCTCCAACAGACAGAGATGC	0.417													35	72	---	---	---	---	0	0
RASL11B	65997	broad.mit.edu	37	4	53730662	53730662	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:53730662delC	ENST00000248706.3	+	3	435	c.217delC	c.(217-219)caafs	p.Q73fs	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	73	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CTATACTAGACAAGTTCAGAT	0.378													7	785	---	---	---	---	0	0
PACS1	55690	broad.mit.edu	37	11	66000448	66000449	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr11:66000448_66000449insA	ENST00000320580.4	+	15	1782_1783	c.1749_1750insA	c.(1750-1752)cagfs	p.Q584fs	PACS1_ENST00000529757.1_Frame_Shift_Ins_p.Q120fs	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	584					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTGAGCTGCTCCAGGACCAGCG	0.624													35	423	---	---	---	---	0	0
MECOM	2122	broad.mit.edu	37	3	168807995	168807995	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr3:168807995delT	ENST00000464456.1	-	13	3803	c.2603delA	c.(2602-2604)aagfs	p.K868fs	MECOM_ENST00000460814.1_Frame_Shift_Del_p.K868fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K877fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K1056fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K878fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K877fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K878fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K942fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACCAAAGCCTTTTCATCTTT	0.318													38	286	---	---	---	---	0	0
CEP57L1	285753	broad.mit.edu	37	6	109476463	109476466	+	Frame_Shift_Del	DEL	AAGG	AAGG	-			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:109476463_109476466delAAGG	ENST00000521277.1	+	7	1087_1090	c.562_565delAAGG	c.(562-567)aaggaafs	p.KE188fs	CEP57L1_ENST00000517392.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000523787.1_Frame_Shift_Del_p.KE207fs|CEP57L1_ENST00000519095.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368970.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000359793.3_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000521522.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000407272.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368968.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000336977.4_Frame_Shift_Del_p.KE128fs|CEP57L1_ENST00000520883.1_Frame_Shift_Del_p.KE128fs			Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	204						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AGAAAAACTTAAGGAAGAAGAACA	0.275													33	134	---	---	---	---	0	0
VRK3	51231	broad.mit.edu	37	19	50511057	50511058	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:50511057_50511058insG	ENST00000599538.1	-	5	979_980	c.315_316insC	c.(313-318)cccaaafs	p.K106fs	VRK3_ENST00000601912.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000594092.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000316763.3_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000594948.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000377011.2_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000601341.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000443401.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	106						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGGCTGCTTTTGGGGGTTGGGG	0.564													7	251	---	---	---	---	0	0
CERS6	253782	broad.mit.edu	37	2	169417720	169417720	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:169417720delT	ENST00000305747.6	+	3	882	c.295delT	c.(295-297)ttgfs	p.L99fs	CERS6_ENST00000392687.4_Frame_Shift_Del_p.L99fs	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	99						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGAAAAGAGATTGGAAGGCCT	0.428													14	250	---	---	---	---	0	0
GPR64	10149	broad.mit.edu	37	X	19026198	19026199	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:19026198_19026199insT	ENST00000379878.3	-	18	1658_1659	c.1417_1418insA	c.(1417-1419)attfs	p.I473fs	GPR64_ENST00000379873.2_Frame_Shift_Ins_p.I489fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.I486fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.I467fs|GPR64_ENST00000379869.3_Frame_Shift_Ins_p.I489fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.I459fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.I475fs|GPR64_ENST00000379876.1_Frame_Shift_Ins_p.I465fs|GPR64_ENST00000354791.3_Frame_Shift_Ins_p.I473fs|GPR64_ENST00000340581.3_Intron	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	489					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGGAAGAGTAATTGTGCCAATA	0.391													91	23	---	---	---	---	0	0
MBD6	0	broad.mit.edu	37	12	57920425	57920425	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:57920425delG	ENST00000355673.3	+	7	1853	c.1497delG	c.(1495-1497)ctgfs	p.L499fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.L499fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	499	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCGAAGGACTGGGGATGGGGG	0.647													51	217	---	---	---	---	0	0
HERC2	8924	broad.mit.edu	37	15	28387490	28387490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr15:28387490delC	ENST00000261609.7	-	76	11702	c.11594delG	c.(11593-11595)tgtfs	p.C3865fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3865					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTCTCGGCACAGCAAGGCAG	0.547													8	51	---	---	---	---	0	0
SRCAP	10847	broad.mit.edu	37	16	30732660	30732666	+	Frame_Shift_Del	DEL	CAGGCTA	CAGGCTA	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:30732660_30732666delCAGGCTA	ENST00000262518.4	+	21	3789_3795	c.3404_3410delCAGGCTA	c.(3403-3411)ccaggctacfs	p.PGY1135fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.PGY1135fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1135	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACAGTGCCACCAGGCTACACCTTCCCT	0.623													10	202	---	---	---	---	0	0
C19orf53	28974	broad.mit.edu	37	19	13888971	13888971	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:13888971delA	ENST00000588234.1	+	3	569	c.259delA	c.(259-261)aaafs	p.K87fs	C19orf53_ENST00000593274.1_Frame_Shift_Del_p.K44fs	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	87										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AGCCAAGAAGAAAGGGGCAGC	0.597													26	66	---	---	---	---	0	0
ETV3	2117	broad.mit.edu	37	1	157104016	157104017	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:157104016_157104017insT	ENST00000368192.4	-	4	351_352	c.287_288insA	c.(286-288)tacfs	p.Y96fs	ETV3_ENST00000326786.4_Frame_Shift_Ins_p.Y96fs	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	96							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGTTGTAATAGTATCTGTAAAA	0.371													46	39	---	---	---	---	0	0
DHFR	1719	broad.mit.edu	37	5	79945228	79945232	+	Frame_Shift_Del	DEL	TAAAT	TAAAT	-			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:79945228_79945232delTAAAT	ENST00000439211.2	-	3	711_715	c.218_222delATTTA	c.(217-222)aatttafs	p.NL73fs	DHFR_ENST00000504396.1_Frame_Shift_Del_p.NL21fs|DHFR_ENST00000505337.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000511032.1_Frame_Shift_Del_p.NL73fs	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	73	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGCTGAGAACTAAATTAATTCTACC	0.332													23	74	---	---	---	---	0	0
NOL8	55035	broad.mit.edu	37	9	95069196	95069199	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr9:95069196_95069199delTGTT	ENST00000545558.1	-	11	3286_3289	c.2794_2797delAACA	c.(2794-2799)aacagafs	p.NR932fs	NOL8_ENST00000535387.1_Frame_Shift_Del_p.NR894fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.NR932fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.NR864fs			Q76FK4	NOL8_HUMAN	nucleolar protein 8	932					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ACTGATCCTCTGTTTGTAGAATTG	0.338													7	281	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151853293	151853293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151853293delC	ENST00000355193.2	-	46	12198	c.11980delG	c.(11980-11982)gaafs	p.E3994fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.E3937fs					lysine (K)-specific methyltransferase 2C																		ATCATACCTTCATGGCTCACT	0.438													22	271	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151859486	151859487	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151859486_151859487insTT	ENST00000355193.2	-	43	11393_11394	c.11175_11176insAA	c.(11173-11178)acagagfs	p.E3726fs	KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.E3726fs					lysine (K)-specific methyltransferase 2C																		GGGCAGGACTCTGTCTCAGCCT	0.48													196	453	---	---	---	---	0	0
DSCC1	79075	broad.mit.edu	37	8	120850633	120850638	+	In_Frame_Del	DEL	CACCAG	CACCAG	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:120850633_120850638delCACCAG	ENST00000313655.4	-	8	1148_1153	c.934_939delCTGGTG	c.(934-939)ctggtgdel	p.LV312del		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	312					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTGTCTATCCACCAGCGCTAAACCC	0.364													47	170	---	---	---	---	0	0
CYC1	1537	broad.mit.edu	37	8	145151373	145151373	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:145151373delA	ENST00000318911.4	+	4	660	c.587delA	c.(586-588)gacfs	p.D196fs		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	196	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGCCCCCTGACCTCAGCTAC	0.577											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	145	---	---	---	---	0	0
C9orf84	158401	broad.mit.edu	37	9	114489999	114490000	+	Frame_Shift_Ins	INS	-	-	CCAAA			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr9:114489999_114490000insCCAAA	ENST00000394779.3	-	9	1682_1683	c.1438_1439insTTTGG	c.(1438-1440)gacfs	p.D480fs	C9orf84_ENST00000394777.4_Frame_Shift_Ins_p.D480fs|C9orf84_ENST00000374287.3_Frame_Shift_Ins_p.D519fs|C9orf84_ENST00000318737.4_Frame_Shift_Ins_p.D519fs	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	519										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCTCAAAAGGTCCAAATCATTC	0.332													22	326	---	---	---	---	0	0
CDKN1B	1027	broad.mit.edu	37	12	12870803	12870803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:12870803delC	ENST00000228872.4	+	1	746	c.30delC	c.(28-30)agcfs	p.S10fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.S10fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	10					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CTAACGGGAGCCCTAGCCTGG	0.607													10	77	---	---	---	---	0	0
ARID2	196528	broad.mit.edu	37	12	46246234	46246241	+	Frame_Shift_Del	DEL	GTGGTACT	GTGGTACT	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:46246234_46246241delGTGGTACT	ENST00000334344.6	+	15	4500_4507	c.4328_4335delGTGGTACT	c.(4327-4335)agtggtactfs	p.SGT1443fs	ARID2_ENST00000444670.1_Frame_Shift_Del_p.SGT1053fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.SGT1294fs|ARID2_ENST00000457135.1_Frame_Shift_Del_p.SGT51fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1443					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGCAATTTAGTGGTACTGATTTGCTTA	0.418			"""N, S, F"""		hepatocellular carcinoma								67	315	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179498718	179498718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:179498718delT	ENST00000589042.1	-	231	42732	c.42508delA	c.(42508-42510)atgfs	p.M14170fs	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.M5105fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.M11602fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.M5297fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.M5230fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.M12529fs|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12529	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTACATGCATTTTTTCATGA	0.363													249	403	---	---	---	---	0	0
THAP9	79725	broad.mit.edu	37	4	83838140	83838141	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:83838140_83838141insT	ENST00000302236.5	+	5	826_827	c.775_776insT	c.(775-777)attfs	p.I259fs	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	259							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CAACAGCAACATTTTTTCTTTT	0.361													30	437	---	---	---	---	0	0
TLL1	7092	broad.mit.edu	37	4	166986834	166986834	+	Splice_Site	DEL	G	G	-			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:166986834delG	ENST00000061240.2	+	16	2654		c.e16-1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTTTTCTAGGTTTGCAAAT	0.363													7	224	---	---	---	---	0	0
FBXO4	26272	broad.mit.edu	37	5	41927295	41927296	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:41927295_41927296delTT	ENST00000296812.2	+	2	426_427	c.370_371delTT	c.(370-372)ttafs	p.L124fs	FBXO4_ENST00000281623.3_Frame_Shift_Del_p.L124fs|FBXO4_ENST00000509134.1_Frame_Shift_Del_p.L124fs	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	124					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTAGAAATCTTAAAAAAGCCT	0.351													18	360	---	---	---	---	0	0
SRFBP1	153443	broad.mit.edu	37	5	121356088	121356088	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:121356088delA	ENST00000339397.4	+	6	730	c.658delA	c.(658-660)aagfs	p.K220fs		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TGAGTCCCAGAAGACACCTGC	0.403													58	96	---	---	---	---	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47121400	47121400	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr17:47121400delG	ENST00000290341.3	+	11	1606	c.1272delG	c.(1270-1272)aagfs	p.K424fs	IGF2BP1_ENST00000431824.2_Frame_Shift_Del_p.K285fs	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	424	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCGGCAAGAAGGGGCAGCACA	0.597													55	153	---	---	---	---	0	0
ATAD2	29028	broad.mit.edu	37	8	124350061	124350065	+	Splice_Site	DEL	ACTTC	ACTTC	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:124350061_124350065delACTTC	ENST00000287394.5	-	21	2962	c.2855delGAAGT	c.(2854-2856)gga>ga	p.G952fs	ATAD2_ENST00000521903.1_Splice_Site_p.G270fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	952					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCCTGCAAAACTTCACATGAATGG	0.41													18	130	---	---	---	---	0	0
C12orf57	113246	broad.mit.edu	37	12	7053872	7053877	+	In_Frame_Del	DEL	GAGGGC	GAGGGC	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:7053872_7053877delGAGGGC	ENST00000544681.1	+	2	591_596	c.286_291delGAGGGC	c.(286-291)gagggcdel	p.EG96del	C12orf57_ENST00000229281.5_Intron|C12orf57_ENST00000542222.1_Intron|C12orf57_ENST00000537087.1_Intron|C12orf57_ENST00000540506.2_Intron			Q99622	C10_HUMAN	chromosome 12 open reading frame 57	0										kidney(1)|large_intestine(1)	2						TGGGTCGGGAGAGGGCGCCGGATCTG	0.636											OREG0011073|OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	13	62	---	---	---	---	0	0
BRCA2	675	broad.mit.edu	37	13	32906912	32906912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr13:32906912delA	ENST00000544455.1	+	10	1524	c.1297delA	c.(1297-1299)aacfs	p.N433fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.N433fs	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	433					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGACACAGAGAACAAAAGAAA	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			82	149	---	---	---	---	0	0
KLK1	3816	broad.mit.edu	37	19	51322517	51322527	+	Frame_Shift_Del	DEL	GGCTTATTGGG	GGCTTATTGGG	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:51322517_51322527delGGCTTATTGGG	ENST00000448701.2	-	6	1730_1740	c.406_416delCCCAATAAGCC	c.(406-417)cccaataagcctfs	p.PNKP136fs	KLK1_ENST00000301420.2_Frame_Shift_Del_p.PNKP238fs			P06870	KLK1_HUMAN	kallikrein 1	238	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCGACAGAAGGCTTATTGGGGGTGCCACAA	0.583													13	147	---	---	---	---	0	0
SGSM1	129049	broad.mit.edu	37	22	25246361	25246381	+	In_Frame_Del	DEL	CCTGGACAAAATTGTGCATTA	CCTGGACAAAATTGTGCATTA	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:25246361_25246381delCCTGGACAAAATTGTGCATTA	ENST00000400358.4	+	5	474_494	c.417_437delCCTGGACAAAATTGTGCATTA	c.(415-438)gtcctggacaaaattgtgcattac>gtc	p.LDKIVHY140del	SGSM1_ENST00000400359.4_In_Frame_Del_p.LDKIVHY140del	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	140	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTGAGAAGGTCCTGGACAAAATTGTGCATTACCTTGTGGAA	0.557											OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	36	---	---	---	---	0	0
GAPVD1	26130	broad.mit.edu	37	9	128122940	128122940	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:128122940delC	ENST00000470056.1	+	24	4257	c.4097delC	c.(4096-4098)gccfs	p.A1366fs	GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.A1345fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.A1372fs|GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.A1393fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.A1385fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.A1420fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.A1411fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1411	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGAGCCTGGCCAATGAGGAC	0.468													93	200	---	---	---	---	0	0
FZD4	8322	broad.mit.edu	37	11	86663230	86663231	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86663230_86663231insT	ENST00000531380.1	-	2	872_873	c.567_568insA	c.(565-570)gatcagfs	p.Q190fs	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	190					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGATGTACTGATCAGAATTGG	0.515													7	234	---	---	---	---	0	0
ITFG1	81533	broad.mit.edu	37	16	47189674	47189674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:47189674delC	ENST00000320640.6	-	18	2023	c.1795delG	c.(1795-1797)gaafs	p.E599fs	ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_3'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	599						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TGTCGTTTTTCTCTATCATCT	0.323													208	362	---	---	---	---	0	0
SLC20A1	6574	broad.mit.edu	37	2	113420507	113420507	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:113420507delA	ENST00000272542.3	+	11	2484	c.1945delA	c.(1945-1947)aacfs	p.N649fs		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	649					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TCTCTTTCGTAACATTTTTAT	0.478													37	238	---	---	---	---	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216797	26216799	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:26216797_26216799delCTT	ENST00000244601.3	-	1	73_75	c.73_75delAAG	c.(73-75)aagdel	p.K25del		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	25					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TCTTGCCATCCTTCTTCTGCGCC	0.517													9	352	---	---	---	---	0	0
TRPA1	8989	broad.mit.edu	37	8	72936093	72936099	+	Frame_Shift_Del	DEL	ATTTGGT	ATTTGGT	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:72936093_72936099delATTTGGT	ENST00000262209.4	-	26	3306_3312	c.3099_3105delACCAAAT	c.(3097-3105)ataccaaatfs	p.IPN1033fs	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1033						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTTATCAGCATTTGGTATTTCTTGTC	0.266													11	109	---	---	---	---	0	0
ANGPT1	284	broad.mit.edu	37	8	108348408	108348408	+	Translation_Start_Site	DEL	T	T	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:108348408delT	ENST00000520734.1	-	0	230				ANGPT1_ENST00000520052.1_De_novo_Start_InFrame			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CAAGATTTCATTTGTCTGTTG	0.363													9	115	---	---	---	---	0	0
CHD3	1107	broad.mit.edu	37	17	7801306	7801307	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:7801306_7801307insT	ENST00000380358.4	+	12	2115_2116	c.2114_2115insT	c.(2113-2118)aattacfs	p.Y706fs	CHD3_ENST00000330494.7_Frame_Shift_Ins_p.Y647fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.Y647fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	647					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AAAAAGGGGAATTACCACTATC	0.45													29	203	---	---	---	---	0	0
FOXP1	27086	broad.mit.edu	37	3	71027051	71027051	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr3:71027051delT	ENST00000318789.4	-	15	1801	c.1276delA	c.(1276-1278)accfs	p.T427fs	FOXP1_ENST00000491238.1_Frame_Shift_Del_p.T429fs|FOXP1_ENST00000484350.1_Frame_Shift_Del_p.T351fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000475937.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000498215.1_Frame_Shift_Del_p.T427fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	427					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATGCTGGTGGTTGTGATGACA	0.577			T	PAX5	ALL								11	265	---	---	---	---	0	0
MED1	5469	broad.mit.edu	37	17	37566389	37566390	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:37566389_37566390delTA	ENST00000300651.6	-	17	2307_2308	c.2084_2085delTA	c.(2083-2085)ttafs	p.L695fs	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	695	Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCTCAGGTGGTAATCTTGATGA	0.46										HNSCC(31;0.082)			15	410	---	---	---	---	0	0
CCDC39	339829	broad.mit.edu	37	3	180381743	180381743	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:180381743delA	ENST00000273654.4	-	8	993	c.374delT	c.(373-375)ttgfs	p.L125fs	CCDC39_ENST00000442201.2_Frame_Shift_Del_p.L41fs			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	41					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTCATCTTGCAAGCTTGCTCT	0.338													35	141	---	---	---	---	0	0
ESCO1	114799	broad.mit.edu	37	18	19153404	19153406	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:19153404_19153406delATC	ENST00000269214.5	-	4	2336_2338	c.1399_1401delGAT	c.(1399-1401)gatdel	p.D467del		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	467					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTACTGTAATATCATTAATTTTC	0.33													57	126	---	---	---	---	0	0
HEXB	3074	broad.mit.edu	37	5	74016258	74016259	+	In_Frame_Ins	INS	-	-	AGA			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:74016258_74016259insAGA	ENST00000511181.1	+	12	1660_1661	c.748_749insAGA	c.(748-750)cag>cAGAag	p.251_252insK	HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000261416.7_In_Frame_Ins_p.476_477insK|HEXB_ENST00000513539.1_3'UTR			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	476					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTTAGGTACTCAGAAACAGAAA	0.361													20	74	---	---	---	---	0	0
CHD6	0	broad.mit.edu	37	20	40118655	40118656	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr20:40118655_40118656insT	ENST00000373233.3	-	12	1619_1620	c.1442_1443insA	c.(1441-1443)aacfs	p.N481fs	CHD6_ENST00000309279.7_Frame_Shift_Ins_p.N481fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	481	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAAAATACAGTTTTTTCTGCA	0.376													73	126	---	---	---	---	0	0
OR2M7	391196	broad.mit.edu	37	1	248487570	248487570	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:248487570delT	ENST00000317965.2	-	1	329	c.301delA	c.(301-303)attfs	p.I101fs		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGAAGAAAATTTGTGTGGCA	0.468													9	513	---	---	---	---	0	0
THADA	63892	broad.mit.edu	37	2	43458187	43458187	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:43458187delA	ENST00000405006.4	-	38	6113	c.5762delT	c.(5761-5763)ttgfs	p.L1921fs	THADA_ENST00000405975.2_Frame_Shift_Del_p.L1921fs|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Frame_Shift_Del_p.L1602fs	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1921							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTTTCCTTCCAAAAAGGCCAG	0.488													7	78	---	---	---	---	0	0
IL1F10	84639	broad.mit.edu	37	2	113832281	113832282	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:113832281_113832282delTC	ENST00000337569.3	+	3	175_176	c.100_101delTC	c.(100-102)tctfs	p.S34fs	IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron			Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	34						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CCTTGACTCTTCTCTCTCTTCC	0.584													16	321	---	---	---	---	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144381770	144381770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:144381770delT	ENST00000295095.6	+	12	1239	c.1072delT	c.(1072-1074)tttfs	p.F359fs		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	359	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ACTGAAGATGTTTTTCCGGGA	0.502													15	87	---	---	---	---	0	0
ENAM	10117	broad.mit.edu	37	4	71509665	71509666	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:71509665_71509666insAG	ENST00000396073.3	+	9	2803_2804	c.2522_2523insAG	c.(2521-2526)ccagagfs	p.PE841fs	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	841					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATGAATTCTCCAGAGAGAGAAC	0.421													15	145	---	---	---	---	0	0
DIMT1	27292	broad.mit.edu	37	5	61688029	61688029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:61688029delT	ENST00000199320.4	-	10	921	c.761delA	c.(760-762)aacfs	p.N254fs	DIMT1_ENST00000506390.1_Frame_Shift_Del_p.N254fs|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	254						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity										AATTCTGTAGTTTTTTTCCAA	0.299													7	185	---	---	---	---	0	0
ERCC6	2074	broad.mit.edu	37	10	50680468	50680469	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:50680468_50680469delAC	ENST00000355832.5	-	16	2955_2956	c.2877_2878delGT	c.(2875-2880)gtgtacfs	p.Y960fs	ERCC6_ENST00000542458.1_Frame_Shift_Del_p.Y330fs|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	960	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGGAGCCTGTACACAGTCACTT	0.55								Direct reversal of damage;Nucleotide excision repair (NER)					8	298	---	---	---	---	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925494	114925494	+	Frame_Shift_Del	DEL	C	C	-	rs61724286		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:114925494delC	ENST00000355995.4	+	15	2130	c.1623delC	c.(1621-1623)gacfs	p.D541fs	TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000355717.4_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	541					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TGAAGCCCGACCCCCTGGCCC	0.697			T	VTI1A	colorectal								49	188	---	---	---	---	0	0
TRIM5	85363	broad.mit.edu	37	11	5686351	5686352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:5686351_5686352insT	ENST00000305836.5	-	8	1471_1472	c.1169_1170insA	c.(1168-1170)aatfs	p.N390fs	TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Frame_Shift_Ins_p.N390fs|TRIM5_ENST00000396847.3_3'UTR			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	390	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GATAATTTTCATTTTTTTCAAT	0.421													11	223	---	---	---	---	0	0
SNRPN	6638	broad.mit.edu	37	15	25223444	25223444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:25223444delC	ENST00000444203.2	+	7	1715	c.676delC	c.(676-678)cccfs	p.P229fs	SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000400100.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P225fs			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	225	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGAATGAGACCCCCTCCACC	0.552									Prader-Willi syndrome				14	256	---	---	---	---	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762300	37762308	+	In_Frame_Del	DEL	GGTCTGGCC	GGTCTGGCC	-			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr17:37762300_37762308delGGTCTGGCC	ENST00000302584.4	-	2	765_773	c.545_553delGGCCAGACC	c.(544-555)cggccagaccta>cta	p.RPD182del		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	182					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TAGGACACTAGGTCTGGCCGCTTGCCGGA	0.603													8	81	---	---	---	---	0	0
ZNF638	27332	broad.mit.edu	37	2	71582900	71582900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:71582900delT	ENST00000409544.1	+	3	1999	c.1369delT	c.(1369-1371)ttafs	p.L457fs	ZNF638_ENST00000264447.4_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000355812.3_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Frame_Shift_Del_p.L457fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	457					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGTCGACAGTTACGTCAACA	0.289													7	74	---	---	---	---	0	0
ZCCHC10	54819	broad.mit.edu	37	5	132334285	132334287	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:132334285_132334287delTTC	ENST00000324170.3	-	4	567_569	c.501_503delGAA	c.(499-504)aagaaa>aaa	p.167_168KK>K	ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000509437.1_In_Frame_Del_p.189_190KK>K|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_In_Frame_Del_p.183_184KK>K|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_In_Frame_Del_p.153_154KK>K	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	189	Ser-rich.						nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATTTCTTTTTCTTCTTCTTTG	0.419													7	109	---	---	---	---	0	0
ATP5A1	498	broad.mit.edu	37	18	43668136	43668137	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr18:43668136_43668137insT	ENST00000593152.2	-	6	1126_1127	c.587_588insA	c.(586-588)tatfs	p.Y196fs	ATP5A1_ENST00000590665.1_Frame_Shift_Ins_p.Y224fs|ATP5A1_ENST00000282050.2_Frame_Shift_Ins_p.Y246fs|ATP5A1_ENST00000398752.6_Frame_Shift_Ins_p.Y246fs	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	246					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CAATAGCAACATAAATACAGTA	0.347													43	229	---	---	---	---	0	0
ZMYM3	9203	broad.mit.edu	37	X	70463721	70463722	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:70463721_70463722delAT	ENST00000373998.1	-	21	4050_4051	c.3353_3354delAT	c.(3352-3354)tatfs	p.Y1118fs	ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.Y1132fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.Y1125fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1130					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGTCAGGTTCATATCGTTCACC	0.495													53	26	---	---	---	---	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50655021	50655042	+	Frame_Shift_Del	DEL	CAGGGGGGCCCTGTGCCCCCGC	CAGGGGGGCCCTGTGCCCCCGC	-	rs149349769	byFrequency	TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:50655021_50655042delCAGGGGGGCCCTGTGCCCCCGC	ENST00000446044.1	+	4	621_642	c.25_46delCAGGGGGGCCCTGTGCCCCCGC	c.(25-48)caggggggccctgtgcccccgccafs	p.QGGPVPPP9fs	MAPKAPK3_ENST00000357955.2_Frame_Shift_Del_p.QGGPVPPP9fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	9					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGCAGAGGAGCAGGGGGGCCCTGTGCCCCCGCCAGTTGCACC	0.698													9	68	---	---	---	---	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519968	113519968	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:113519968delT	ENST00000284601.3	-	4	1247	c.1179delA	c.(1177-1179)aaafs	p.K393fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	393					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGAGGAATATTTTTCATTGC	0.393													8	413	---	---	---	---	0	0
PCDHGB3	0	broad.mit.edu	37	5	140751730	140751739	+	Frame_Shift_Del	DEL	AGGTGGTGGC	AGGTGGTGGC	-			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr5:140751730_140751739delAGGTGGTGGC	ENST00000576222.1	+	1	1900_1909	c.1769_1778delAGGTGGTGGC	c.(1768-1779)aaggtggtggcgfs	p.KVVA590fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGACCAAGGTGGTGGCGGTGGACGCA	0.657													20	81	---	---	---	---	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691205	122691209	+	Frame_Shift_Del	DEL	CTATC	CTATC	-			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:122691205_122691209delCTATC	ENST00000535274.1	+	1	2059_2063	c.332_336delCTATC	c.(331-336)gctatcfs	p.AI111fs	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Del_p.AI111fs|B3GNT4_ENST00000324189.4_Frame_Shift_Del_p.AI136fs			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	136					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.I137M(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGACGTGCGGCTATCCGCAGCACGT	0.629													9	169	---	---	---	---	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691220	122691221	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:122691220_122691221insCT	ENST00000535274.1	+	1	2074_2075	c.347_348insCT	c.(346-351)tggggcfs	p.WG116fs	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Ins_p.WG116fs|B3GNT4_ENST00000324189.4_Frame_Shift_Ins_p.WG141fs			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	141					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGCAGCACGTGGGGCAGGGTGG	0.644													22	131	---	---	---	---	0	0
IRS1	3667	broad.mit.edu	37	2	227661593	227661593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:227661593delG	ENST00000305123.5	-	1	2882	c.1862delC	c.(1861-1863)ccafs	p.P621fs		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACTGGGCACTGGGGCCACCCC	0.632											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	98	---	---	---	---	0	0
P2RX5-TAX1BP3	0	broad.mit.edu	37	17	3595042	3595042	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:3595042delG	ENST00000550383.1	-	2	372	c.184delC	c.(184-186)ctgfs	p.L62fs	P2RX5_ENST00000551178.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552050.1_Frame_Shift_Del_p.L26fs|P2RX5_ENST00000345901.3_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000225328.5_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552276.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000435558.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000547178.1_Frame_Shift_Del_p.L62fs																							GCACTCTGCAGGGAGGTGTCG	0.592													39	215	---	---	---	---	0	0
IQCJ-SCHIP1	0	broad.mit.edu	37	3	158980372	158980373	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:158980372_158980373insG	ENST00000485419.1	+	4	360_361	c.191_192insG	c.(190-195)caggagfs	p.E65fs	IQCJ-SCHIP1_ENST00000476809.1_Frame_Shift_Ins_p.E38fs|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000451172.1_Frame_Shift_Ins_p.E65fs|IQCJ_ENST00000482126.1_Frame_Shift_Ins_p.E38fs|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000397832.2_Frame_Shift_Ins_p.E65fs	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0	Ser-rich.					cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CTGCAGCGGCAGGAGCCCCTGG	0.54													7	250	---	---	---	---	0	0
FMNL3	91010	broad.mit.edu	37	12	50041517	50041519	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr12:50041517_50041519delGGG	ENST00000335154.5	-	23	2978_2980	c.2745_2747delCCC	c.(2743-2748)ttccca>tta	p.915_916FP>L	FMNL3_ENST00000550488.1_In_Frame_Del_p.914_915FP>L|FMNL3_ENST00000293590.5_In_Frame_Del_p.915_916FP>L|FMNL3_ENST00000352151.5_In_Frame_Del_p.864_865FP>L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	915	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GACAAATACTGGGAAGAATACAG	0.512													17	92	---	---	---	---	0	0
ASH1L	55870	broad.mit.edu	37	1	155448689	155448689	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:155448689delA	ENST00000368346.3	-	3	4611	c.3972delT	c.(3970-3972)tttfs	p.F1324fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.F1324fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1324					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGAAACTATTAAAGTTGATTC	0.408													7	268	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38060721	38060721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr14:38060721delG	ENST00000250448.2	-	2	1329	c.1268delC	c.(1267-1269)gcafs	p.A423fs	FOXA1_ENST00000540786.1_Frame_Shift_Del_p.A390fs|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	423					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTATTGCAGTGCCTGTTCGTA	0.612													12	66	---	---	---	---	0	0
TTC4	7268	broad.mit.edu	37	1	55186887	55186893	+	Frame_Shift_Del	DEL	CCTGCCA	CCTGCCA	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:55186887_55186893delCCTGCCA	ENST00000371281.3	+	4	530_536	c.443_449delCCTGCCA	c.(442-450)ccctgccacfs	p.PCH148fs	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	148							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAGCTAAAACCCTGCCACCTCAAAGCA	0.357													8	85	---	---	---	---	0	0
RASAL2	9462	broad.mit.edu	37	1	178433459	178433461	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:178433459_178433461delCAG	ENST00000448150.3	+	15	4084_4086	c.3266_3268delCAG	c.(3265-3270)acagca>aca	p.A1091del	RASAL2_ENST00000367649.3_In_Frame_Del_p.A1102del|RASAL2_ENST00000462775.1_In_Frame_Del_p.A961del	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	961					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTAGAGAGGACAGCAGCCTGGGT	0.483													14	103	---	---	---	---	0	0
SDAD1	55153	broad.mit.edu	37	4	76888458	76888458	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:76888458delC	ENST00000356260.5	-	12	1135	c.1017delG	c.(1015-1017)ttgfs	p.L339fs	SDAD1_ENST00000513089.1_Intron|SDAD1_ENST00000395711.4_Frame_Shift_Del_p.L302fs	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	339					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAACCTTTGCAAAAAGGGAT	0.418													15	60	---	---	---	---	0	0
GAPVD1	26130	broad.mit.edu	37	9	128113082	128113086	+	Frame_Shift_Del	DEL	TGCGC	TGCGC	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:128113082_128113086delTGCGC	ENST00000470056.1	+	20	3579_3583	c.3419_3423delTGCGC	c.(3418-3423)atgcgcfs	p.MR1140fs	GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.MR1167fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.MR1119fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.MR1159fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.MR1146fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.MR1185fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.MR1194fs|GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.MR1185fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1185					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAAGAAACAATGCGCTGTGTGTGCC	0.361													32	264	---	---	---	---	0	0
PEAK1	79834	broad.mit.edu	37	15	77407550	77407566	+	Frame_Shift_Del	DEL	CAGCAAGGAAATGACCA	CAGCAAGGAAATGACCA	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr15:77407550_77407566delCAGCAAGGAAATGACCA	ENST00000560626.2	-	7	4648_4664	c.4173_4189delTGGTCATTTCCTTGCTG	c.(4171-4191)tgtggtcatttccttgctgaafs	p.CGHFLAE1391fs	PEAK1_ENST00000312493.4_Frame_Shift_Del_p.CGHFLAE1391fs			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1391	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TTAGGGACTTCAGCAAGGAAATGACCACAGTCCTGCT	0.479													16	218	---	---	---	---	0	0
DSCAM	1826	broad.mit.edu	37	21	41424003	41424003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr21:41424003delA	ENST00000400454.1	-	30	5544	c.5067delT	c.(5065-5067)gctfs	p.A1689fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1689					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCAAAGTCAGCATCCGTCA	0.532													19	168	---	---	---	---	0	0
FASTKD2	22868	broad.mit.edu	37	2	207636634	207636634	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:207636634delA	ENST00000236980.6	+	5	1355	c.1007delA	c.(1006-1008)gaafs	p.E336fs	FASTKD2_ENST00000402774.3_Frame_Shift_Del_p.E336fs|FASTKD2_ENST00000403094.3_Frame_Shift_Del_p.E336fs	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	336					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GCCTTGAGGGAATTAGACAGA	0.318													38	164	---	---	---	---	0	0
CSMD3	114788	broad.mit.edu	37	8	113275870	113275870	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:113275870delA	ENST00000297405.5	-	61	10104	c.9860delT	c.(9859-9861)ttafs	p.L3287fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.L3118fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L3247fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L3217fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3287	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACTTACGTAAGCACTGCGG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	58	---	---	---	---	0	0
NINL	22981	broad.mit.edu	37	20	25436392	25436392	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:25436392delC	ENST00000278886.6	-	23	3947	c.3874delG	c.(3874-3876)gaafs	p.E1293fs	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Frame_Shift_Del_p.E944fs	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1293					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACCCGCTCTTCTGTGGCTTTC	0.527													11	428	---	---	---	---	0	0
AMZ2P1	0	broad.mit.edu	37	17	62968909	62968909	+	RNA	DEL	T	T	-			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr17:62968909delT	ENST00000430983.1	-	0	1426					NR_026903.1																						TCTCATTGACTCTAAAGGAAC	0.358													11	56	---	---	---	---	0	0
C12orf55	144535	broad.mit.edu	37	12	97093817	97093817	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:97093817delA	ENST00000524981.4	+	46	6443	c.6420delA	c.(6418-6420)ggafs	p.G2140fs						chromosome 12 open reading frame 55																		TTTTCTATGGAAAAAACATGC	0.343													56	247	---	---	---	---	0	0
TBC1D13	54662	broad.mit.edu	37	9	131553912	131553912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:131553912delG	ENST00000372648.5	+	5	390	c.240delG	c.(238-240)cagfs	p.Q80fs	TBC1D13_ENST00000539497.1_Intron|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.Q80fs|TBC1D13_ENST00000466056.1_3'UTR	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	80	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TGATCATCCAGCCTGGCATTG	0.552													14	67	---	---	---	---	0	0
TBX3	6926	broad.mit.edu	37	12	115114119	115114120	+	Splice_Site	DEL	TT	TT	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:115114119_115114120delTT	ENST00000349155.2	-	5	2000_2001	c.1037_1038delAA	c.(1036-1038)aaa>a	p.K346fs	TBX3_ENST00000257566.3_Splice_Site_p.K366fs	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	366					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ATGGTTTACCTTTGAGGTTCGA	0.545													14	91	---	---	---	---	0	0
VPS13C	54832	broad.mit.edu	37	15	62214732	62214734	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr15:62214732_62214734delACA	ENST00000261517.5	-	54	6910_6912	c.6837_6839delTGT	c.(6835-6840)gttgta>gta	p.2279_2280VV>V	VPS13C_ENST00000249837.3_In_Frame_Del_p.2236_2237VV>V|VPS13C_ENST00000395896.4_In_Frame_Del_p.2279_2280VV>V|VPS13C_ENST00000395898.3_In_Frame_Del_p.2236_2237VV>V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2279					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AATGGATTCTACAACAACACCAC	0.365													25	165	---	---	---	---	0	0
EFHC1	114327	broad.mit.edu	37	6	52288788	52288803	+	Frame_Shift_Del	DEL	CTATGCAATTGTTCGA	CTATGCAATTGTTCGA	-			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:52288788_52288803delCTATGCAATTGTTCGA	ENST00000371068.5	+	2	211_226	c.108_123delCTATGCAATTGTTCGA	c.(106-123)ggctatgcaattgttcgafs	p.GYAIVR36fs	EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Frame_Shift_Del_p.GYAIVR17fs|EFHC1_ENST00000433625.2_5'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	36						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ACAGGAACGGCTATGCAATTGTTCGACGTCCAACAG	0.458													27	164	---	---	---	---	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20591999	20592002	+	Frame_Shift_Del	DEL	TTTA	TTTA	-			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr20:20591999_20592002delTTTA	ENST00000202677.7	-	14	1764_1767	c.1757_1760delTAAA	c.(1756-1761)ataaagfs	p.IK586fs		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAACAAGTCCTTTATTTGTTTATC	0.382													8	773	---	---	---	---	0	0
GARS	2617	broad.mit.edu	37	7	30661990	30661992	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:30661990_30661992delAAG	ENST00000389266.3	+	12	1766_1768	c.1525_1527delAAG	c.(1525-1527)aagdel	p.K510del		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	510					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TAAGGCATATAAGAAGGATGCAA	0.404													8	322	---	---	---	---	0	0
MYEOV	26579	broad.mit.edu	37	11	69063421	69063425	+	Frame_Shift_Del	DEL	CTTTA	CTTTA	-			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:69063421_69063425delCTTTA	ENST00000535407.1	+	2	973_977	c.330_334delCTTTA	c.(328-336)gcctttagafs	p.FR111fs	MYEOV_ENST00000308946.3_Frame_Shift_Del_p.FR169fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.FR169fs			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	169										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGGGAGAAGCCTTTAGAGTGGGCGT	0.585													90	356	---	---	---	---	0	0
PPP5C	5536	broad.mit.edu	37	19	46850390	46850400	+	Frame_Shift_Del	DEL	GAGCCCCCCCG	GAGCCCCCCCG	-	rs150667064	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:46850390_46850400delGAGCCCCCCCG	ENST00000012443.4	+	1	140_150	c.37_47delGAGCCCCCCCG	c.(37-48)gagcccccccggfs	p.EPPR13fs	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	13					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	p.R16fs*7(1)|p.P14H(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGAGTGTGCTGAGCCCCCCCGGGACGAACCC	0.687											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9	---	---	---	---	0	0
DISP1	84976	broad.mit.edu	37	1	223178140	223178162	+	Frame_Shift_Del	DEL	TTGGACCACAGGGTACCTGTGGT	TTGGACCACAGGGTACCTGTGGT	-			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:223178140_223178162delTTGGACCACAGGGTACCTGTGGT	ENST00000284476.6	+	8	3565_3587	c.3401_3423delTTGGACCACAGGGTACCTGTGGT	c.(3400-3423)cttggaccacagggtacctgtggtfs	p.LGPQGTCG1134fs		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1134					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGCCGGTGCCTTGGACCACAGGGTACCTGTGGTCAGATTCCTT	0.48													8	186	---	---	---	---	0	0
MSTN	2660	broad.mit.edu	37	2	190925125	190925125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:190925125delC	ENST00000260950.4	-	2	542	c.410delG	c.(409-411)tgtfs	p.C138fs	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	138					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AAAGAAGCAACATTTGGGTTT	0.328													10	160	---	---	---	---	0	0
ZDHHC20	253832	broad.mit.edu	37	13	21987884	21987895	+	In_Frame_Del	DEL	GTTCCTTTTCAG	GTTCCTTTTCAG	-			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:21987884_21987895delGTTCCTTTTCAG	ENST00000400590.3	-	4	464_475	c.266_277delCTGAAAAGGAAC	c.(265-279)tctgaaaaggaacgt>tgt	p.89_93SEKER>C	ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000320220.9_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000415724.1_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000542645.1_In_Frame_Del_p.26_30SEKER>C|ZDHHC20_ENST00000382466.3_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000422251.1_In_Frame_Del_p.89_93SEKER>C			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	89						integral to membrane	acyltransferase activity|zinc ion binding	p.K91N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TTTTCATAACGTTCCTTTTCAGAATTGGACAA	0.302													8	83	---	---	---	---	0	0
GNPNAT1	0	broad.mit.edu	37	14	53245162	53245163	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr14:53245162_53245163delAG	ENST00000216410.3	-	6	608_609	c.421_422delCT	c.(421-423)cttfs	p.L141fs	GNPNAT1_ENST00000554230.1_Frame_Shift_Del_p.L70fs	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	141	N-acetyltransferase.				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TAGCAAAGTAAGGGTTGATAAT	0.292													24	130	---	---	---	---	0	0
FGGY	55277	broad.mit.edu	37	1	59805628	59805629	+	Splice_Site	DEL	AG	AG	-			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:59805628_59805629delAG	ENST00000371218.4	+	3	385		c.e3-1		FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Splice_Site	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing						carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TTTTTAAAACAGAAAGTTGTAC	0.342													9	37	---	---	---	---	0	0
ARID4B	51742	broad.mit.edu	37	1	235345290	235345317	+	Frame_Shift_Del	DEL	CACTGGGTGAACAACTCTCCTCTTCAGC	CACTGGGTGAACAACTCTCCTCTTCAGC	-	rs148934238	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:235345290_235345317delCACTGGGTGAACAACTCTCCTCTTCAGC	ENST00000264183.3	-	20	3414_3441	c.2917_2944delGCTGAAGAGGAGAGTTGTTCACCCAGTG	c.(2917-2946)gctgaagaggagagttgttcacccagtgtafs	p.AEEESCSPSV973fs	ARID4B_ENST00000366603.2_Frame_Shift_Del_p.AEEESCSPSV973fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.AEEESCSPSV887fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	973					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.V982L(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTAGTTCTACACTGGGTGAACAACTCTCCTCTTCAGCCACAGTCTGC	0.487													21	202	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179425049	179425050	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:179425049_179425050insT	ENST00000589042.1	-	326	86033_86034	c.85809_85810insA	c.(85807-85812)aaaccafs	p.P28604fs	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P19539fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P19664fs|TTN_ENST00000591111.1_Frame_Shift_Ins_p.P26963fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P19731fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P26036fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26963	Fibronectin type-III 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATAAACTGGTTTTTTGTTTA	0.406													15	98	---	---	---	---	0	0
DGKD	8527	broad.mit.edu	37	2	234296911	234296912	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:234296911_234296912insA	ENST00000264057.2	+	2	177_178	c.165_166insA	c.(166-168)aaafs	p.K56fs	DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_Frame_Shift_Ins_p.K12fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	56	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGACCATCATCAAAGAGGGGAT	0.441													15	159	---	---	---	---	0	0
ABHD10	55347	broad.mit.edu	37	3	111705862	111705863	+	Frame_Shift_Ins	INS	-	-	ACCTTAG			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:111705862_111705863insACCTTAG	ENST00000273359.3	+	4	567_568	c.540_541insACCTTAG	c.(541-543)accfs	p.-181fs	ABHD10_ENST00000494817.1_Frame_Shift_Ins_p.-181fs|ABHD10_ENST00000534857.1_Frame_Shift_Ins_p.-24fs	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10							mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						CAGCTGCAGATACCTTAGTGAC	0.441													12	134	---	---	---	---	0	0
USP31	57478	broad.mit.edu	37	16	23080918	23080918	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:23080918delT	ENST00000219689.7	-	16	2507	c.2508delA	c.(2506-2508)ccafs	p.P836fs	USP31_ENST00000567975.1_Frame_Shift_Del_p.P129fs	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	836	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCTCACAAATGGTCGAGTTG	0.443													12	49	---	---	---	---	0	0
AIM2	9447	broad.mit.edu	37	1	159033322	159033322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:159033322delT	ENST00000368130.4	-	5	1247	c.959delA	c.(958-960)aatfs	p.N320fs		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	320	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTCTCCATTTTTTGACAG	0.408													209	379	---	---	---	---	0	0
TPR	7175	broad.mit.edu	37	1	186307316	186307316	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:186307316delT	ENST00000367478.4	-	31	4507	c.4211delA	c.(4210-4212)aatfs	p.N1404fs		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTACTTTATTTAGATCTTC	0.294			T	NTRK1	papillary thyroid								27	195	---	---	---	---	0	0
CNTN6	27255	broad.mit.edu	37	3	1262421	1262422	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr3:1262421_1262422insT	ENST00000446702.2	+	3	733_734	c.106_107insT	c.(106-108)attfs	p.I36fs	CNTN6_ENST00000539053.1_5'UTR|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.I36fs			Q9UQ52	CNTN6_HUMAN	contactin 6	36	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACATGATGTCATTTTTCCTTTG	0.401													8	324	---	---	---	---	0	0
SLC22A4	6583	broad.mit.edu	37	5	131676278	131676278	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:131676278delC	ENST00000200652.3	+	9	1639	c.1465delC	c.(1465-1467)cccfs	p.P489fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	489					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CAGAATGCTGCCCTACATCGT	0.458													15	665	---	---	---	---	0	0
SCAMP1	9522	broad.mit.edu	37	5	77755186	77755186	+	Splice_Site	DEL	G	G	-			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:77755186delG	ENST00000538629.1	+	8	1009		c.e8+1		SCAMP1_ENST00000339292.4_Splice_Site	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1						post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		GTTCAAAAAAGTAAGTGAAAT	0.323													8	18	---	---	---	---	0	0
CDKN1B	1027	broad.mit.edu	37	12	12870993	12870994	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:12870993_12870994insA	ENST00000228872.4	+	1	936_937	c.220_221insA	c.(220-222)tacfs	p.Y74fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.Y74fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	74					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		AGAGGGCAAGTACGAGTGGCAA	0.589													49	50	---	---	---	---	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098722	78098723	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:78098722_78098723delTC	ENST00000370801.3	-	5	792_793	c.317_318delGA	c.(316-318)agafs	p.R107fs	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTGTTTGCCTTCTCTCACAATT	0.391													117	268	---	---	---	---	0	0
RP11-85M11.2	0	broad.mit.edu	37	3	165320296	165320297	+	RNA	DEL	TA	TA	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:165320296_165320297delTA	ENST00000496693.1	+	0	508																											TGTTGTAACTTACCCTTCTGCC	0.391													44	127	---	---	---	---	0	0
SERINC1	57515	broad.mit.edu	37	6	122768119	122768119	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:122768119delA	ENST00000339697.4	-	9	1110	c.1026delT	c.(1024-1026)aatfs	p.N342fs		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1						phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGTCAGTTTATTAACCTGAC	0.363													58	116	---	---	---	---	0	0
LINGO2	158038	broad.mit.edu	37	9	27949103	27949103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:27949103delC	ENST00000379992.2	-	6	2016	c.1567delG	c.(1567-1569)gacfs	p.D523fs	LINGO2_ENST00000308675.3_Frame_Shift_Del_p.D523fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	523						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAAATGGTGTCATTGGAGTCG	0.458													7	325	---	---	---	---	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14951253	14951253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:14951253delA	ENST00000453695.2	-	14	1317	c.873delT	c.(871-873)tttfs	p.F291fs	DCLRE1C_ENST00000378278.2_Frame_Shift_Del_p.F411fs|DCLRE1C_ENST00000378255.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378249.1_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000357717.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378254.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378246.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378242.1_Frame_Shift_Del_p.F64fs|DCLRE1C_ENST00000378258.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000396817.2_Frame_Shift_Del_p.F291fs	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	411					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCTCAGGGTGAAAAGTTTCCG	0.448								Non-homologous end-joining					17	112	---	---	---	---	0	0
GANAB	23193	broad.mit.edu	37	11	62402415	62402416	+	Frame_Shift_Ins	INS	-	-	GGAC			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:62402415_62402416insGGAC	ENST00000346178.4	-	5	452_453	c.437_438insGTCC	c.(436-438)cccfs	p.-146fs	GANAB_ENST00000356638.3_Frame_Shift_Ins_p.-146fs|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Frame_Shift_Ins_p.-49fs|GANAB_ENST00000534779.1_Frame_Shift_Ins_p.-32fs	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGATCTTGTAGGGTCCCTCAGC	0.48													46	136	---	---	---	---	0	0
ROCK1	6093	broad.mit.edu	37	18	18690838	18690839	+	In_Frame_Ins	INS	-	-	AAA			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr18:18690838_18690839insAAA	ENST00000399799.2	-	1	973_974	c.33_34insTTT	c.(31-36)tttgaa>tttTTTgaa	p.11_12insF		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1						actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCATTTTTTCAAATCGAGTCT	0.485													43	140	---	---	---	---	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176768285	176768286	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:176768285_176768286insA	ENST00000430069.1	-	6	799_800	c.540_541insT	c.(538-543)gttagtfs	p.S181fs	TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.S181fs			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	181					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AGGAGATCACTAACAGGGTTCC	0.361													15	64	---	---	---	---	0	0
CPEB4	80315	broad.mit.edu	37	5	173317315	173317316	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:173317315_173317316insG	ENST00000265085.5	+	1	2033_2034	c.579_580insG	c.(580-582)gggfs	p.G194fs	CPEB4_ENST00000334035.5_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000520867.1_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000519835.1_Frame_Shift_Ins_p.G194fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	194							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCACCAGGGAGGGGTCCCTGC	0.505													15	157	---	---	---	---	0	0
MKRN1	23608	broad.mit.edu	37	7	140158897	140158897	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:140158897delG	ENST00000255977.2	-	4	905	c.681delC	c.(679-681)aacfs	p.N227fs	MKRN1_ENST00000443720.2_Frame_Shift_Del_p.N227fs|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000474576.1_Frame_Shift_Del_p.N163fs|MKRN1_ENST00000437223.2_Intron	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	227							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GATACACACAGTTCTCCCCGT	0.522													19	233	---	---	---	---	0	0
DYNLRB1	83658	broad.mit.edu	37	20	33122618	33122618	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:33122618delC	ENST00000417166.2	+	3	299	c.266delC	c.(265-267)tccfs	p.S89fs	DYNLRB1_ENST00000357156.2_Intron|DYNLRB1_ENST00000374846.3_Intron|DYNLRB1_ENST00000480759.1_Intron			Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	0					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						TCTTCTACCTCCCCATGTAGG	0.532													7	51	---	---	---	---	0	0
NCAM2	4685	broad.mit.edu	37	21	22658654	22658655	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr21:22658654_22658655insT	ENST00000400546.1	+	4	652_653	c.403_404insT	c.(403-405)gttfs	p.V135fs	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.V160fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	135	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGCAGAAGTGGTTTGCCGAGTT	0.401													25	87	---	---	---	---	0	0
PLAU	5328	broad.mit.edu	37	10	75673298	75673298	+	Splice_Site	DEL	A	A	-			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr10:75673298delA	ENST00000446342.1	+	6	893	c.411delA	c.(409-411)gga>gg	p.G137fs	PLAU_ENST00000372764.3_Splice_Site_p.G154fs|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Splice_Site_p.G118fs|PLAU_ENST00000494287.1_3'UTR	NM_001145031.1	NP_001138503	P00749	UROK_HUMAN	plasminogen activator, urokinase	154	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GTCCTCCAGGAAAAAAGCCCT	0.517													7	790	---	---	---	---	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32920998	32921007	+	Splice_Site	DEL	GAATTGGTAG	GAATTGGTAG	-			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:32920998_32921007delGAATTGGTAG	ENST00000361627.3	+	7	1654_1659	c.932_937delGAATTGGTAG	c.(931-939)agaattggt>agt	p.RIG311fs	ARHGAP11A_ENST00000565905.1_Splice_Site_p.RIG122fs|ARHGAP11A_ENST00000543522.1_Splice_Site_p.RIG122fs|ARHGAP11A_ENST00000563864.1_Splice_Site_p.RIG311fs|ARHGAP11A_ENST00000567348.1_Splice_Site_p.RIG311fs	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	311					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.A313P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CAAGAAGAAAGAATTGGTAGGTATTTATTA	0.238													13	141	---	---	---	---	0	0
NR1D2	9975	broad.mit.edu	37	3	24001168	24001168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:24001168delT	ENST00000312521.4	+	4	698	c.379delT	c.(379-381)tttfs	p.F127fs	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	127					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TTAGGGTTTCTTTCGGAGAAG	0.358													82	127	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7578242	7578242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:7578242delC	ENST00000420246.2	-	6	739	c.607delG	c.(607-609)gtgfs	p.V203fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	203	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.V203L(3)|p.V203fs*44(2)|p.V203M(2)|p.N200fs*4(1)|p.V203_E204>LV(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAATACTCCACACGCAAATTT	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	13	---	---	---	---	0	0
SRSF2	6427	broad.mit.edu	37	17	74732433	74732456	+	In_Frame_Del	DEL	GACCGAGATCGAGAACGAGTGCGG	GACCGAGATCGAGAACGAGTGCGG	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:74732433_74732456delGACCGAGATCGAGAACGAGTGCGG	ENST00000392485.2	-	2	625_648	c.453_476delCCGCACTCGTTCTCGATCTCGGTC	c.(451-477)tcccgcactcgttctcgatctcggtcg>tcg	p.151_159SRTRSRSRS>S	RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.139_147SRTRSRSRS>S|SRSF2_ENST00000359995.5_In_Frame_Del_p.151_159SRTRSRSRS>S|MFSD11_ENST00000588460.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	151	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	p.R156R(1)|p.R136R(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTTGGAGGTCGACCGAGATCGAGAACGAGTGCGGGACCGAGACT	0.661			Mis		"""MDS, CLL"""								25	231	---	---	---	---	0	0
ITSN1	6453	broad.mit.edu	37	21	35195922	35195922	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:35195922delT	ENST00000381318.3	+	25	3436	c.3148delT	c.(3148-3150)ttcfs	p.F1050fs	ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F1045fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F1008fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1050	SH3 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGCCGGAGTCTTCCCTTCTAA	0.473													71	115	---	---	---	---	0	0
IL6ST	3572	broad.mit.edu	37	5	55250760	55250772	+	Frame_Shift_Del	DEL	CATTCCACCCAAA	CATTCCACCCAAA	-			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr5:55250760_55250772delCATTCCACCCAAA	ENST00000381298.2	-	11	1628_1640	c.1316_1328delTTTGGGTGGAATG	c.(1315-1329)ctttgggtggaatggfs	p.LWVEW439fs	IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Frame_Shift_Del_p.LWVEW439fs|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Frame_Shift_Del_p.LWVEW439fs	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	439	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGAGTAGTCCATTCCACCCAAAGCATGTTATC	0.347			O		hepatocellular ca								45	290	---	---	---	---	0	0
PRRC2A	7916	broad.mit.edu	37	6	31590596	31590598	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr6:31590596_31590598delGGG	ENST00000376033.2	+	2	264_266	c.30_32delGGG	c.(28-33)aaggga>aaa	p.G11del	PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_In_Frame_Del_p.G11del	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	11						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CGACTGCCAAGGGAAAGGATGGA	0.547													46	298	---	---	---	---	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38793568	38793569	+	Splice_Site	DEL	GG	GG	-			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr8:38793568_38793569delGG	ENST00000420274.1	+	3	432	c.198delGG	c.(196-198)aag>aa	p.K66fs	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Splice_Site_p.K66fs	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	66	PH 1.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			ACATCTCGAAGGTAATGTTGAC	0.46													24	203	---	---	---	---	0	0
PLIN3	10226	broad.mit.edu	37	19	4847750	4847750	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr19:4847750delG	ENST00000221957.4	-	6	963	c.787delC	c.(787-789)cagfs	p.Q263fs	PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q263fs|PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q251fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	263					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TGTGCCCTCTGCTTGGTGGCT	0.662													9	16	---	---	---	---	0	0
CCNYL1	151195	broad.mit.edu	37	2	208618360	208618362	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:208618360_208618362delAGA	ENST00000295414.3	+	10	1229_1231	c.1018_1020delAGA	c.(1018-1020)agadel	p.R341del	CCNYL1_ENST00000468768.1_3'UTR|CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del|CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	341					regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		AGCCGCTATGAGAAGGTCTTTCA	0.404													72	356	---	---	---	---	0	0
UBA6	55236	broad.mit.edu	37	4	68529609	68529610	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:68529609_68529610insT	ENST00000322244.5	-	11	1012_1013	c.953_954insA	c.(952-954)aacfs	p.N318fs	UBA6_ENST00000420827.2_Frame_Shift_Ins_p.N318fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTACCTCAGGGTTGCTAAAATC	0.386													8	279	---	---	---	---	0	0
SURF4	6836	broad.mit.edu	37	9	136231748	136231748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136231748delT	ENST00000371989.3	-	5	640	c.511delA	c.(511-513)accfs	p.T171fs	SURF4_ENST00000545297.1_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Frame_Shift_Del_p.T171fs|SURF4_ENST00000485435.2_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	171						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGAAGGAGGGTCATGAACATC	0.562													12	69	---	---	---	---	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717743	142717743	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:142717743delT	ENST00000381779.4	-	2	1407	c.1182delA	c.(1180-1182)gtafs	p.V394fs	SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.V394fs|SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.V394fs	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	394						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGTCTGATACGTCCACAT	0.393													110	164	---	---	---	---	0	0
FBXO6	26270	broad.mit.edu	37	1	11733821	11733821	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:11733821delG	ENST00000376753.4	+	6	930	c.795delG	c.(793-795)cagfs	p.Q265fs		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	265					DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGAACCAGGCCTCCTCCG	0.617													8	91	---	---	---	---	0	0
PNPLA7	375775	broad.mit.edu	37	9	140437911	140437912	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr9:140437911_140437912insC	ENST00000406427.1	-	6	814_815	c.478_479insG	c.(478-480)gaafs	p.E160fs	PNPLA7_ENST00000277531.4_Frame_Shift_Ins_p.E135fs	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	135					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTACAGAACTTCCGATGGCAGG	0.639													7	197	---	---	---	---	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256160	15256160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr10:15256160delC	ENST00000378116.4	-	8	1433	c.1427delG	c.(1426-1428)ggcfs	p.G476fs		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	476						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGACTCGTAGCCTTCTCTTTC	0.483													21	132	---	---	---	---	0	0
ANK3	288	broad.mit.edu	37	10	61832387	61832388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr10:61832387_61832388insT	ENST00000280772.2	-	37	8442_8443	c.8251_8252insA	c.(8251-8253)atafs	p.I2751fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTCTCCTGTATTTTTTTAACT	0.401													18	156	---	---	---	---	0	0
FLG2	388698	broad.mit.edu	37	1	152329411	152329415	+	Frame_Shift_Del	DEL	TTGCT	TTGCT	-			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:152329411_152329415delTTGCT	ENST00000388718.5	-	3	919_923	c.847_851delAGCAA	c.(847-852)agcaatfs	p.SN283fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	283	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCACTTGAATTGCTATAACCACAT	0.429													78	272	---	---	---	---	0	0
ZNF292	23036	broad.mit.edu	37	6	87965133	87965137	+	Frame_Shift_Del	DEL	AGTAA	AGTAA	-			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr6:87965133_87965137delAGTAA	ENST00000369577.3	+	8	1829_1833	c.1786_1790delAGTAA	c.(1786-1791)agtaaafs	p.SK596fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.SK591fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAACAATCTAGTAAAGAGAGACTA	0.361													10	76	---	---	---	---	0	0
GGCX	2677	broad.mit.edu	37	2	85777103	85777106	+	Frame_Shift_Del	DEL	GAAT	GAAT	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:85777103_85777106delGAAT	ENST00000233838.4	-	15	2308_2311	c.2228_2231delATTC	c.(2227-2232)cattctfs	p.HS743fs	GGCX_ENST00000430215.3_Frame_Shift_Del_p.HS686fs	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	AGGAGGATTAGAATGTGAAGAATC	0.515													25	61	---	---	---	---	0	0
MAP3K7	6885	broad.mit.edu	37	6	91226267	91226269	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:91226267_91226269delGTT	ENST00000369329.3	-	17	1933_1935	c.1772_1774delAAC	c.(1771-1776)caacta>cta	p.Q591del	MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369332.3_In_Frame_Del_p.Q564del|MAP3K7_ENST00000369320.1_In_Frame_Del_p.Q245del|MAP3K7_ENST00000479630.1_5'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	591					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGACCTCTAGTTGTTTTTTGCA	0.374													18	107	---	---	---	---	0	0
MAGOH	4116	broad.mit.edu	37	1	53692751	53692752	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:53692751_53692752delAG	ENST00000371470.3	-	5	567_568	c.406_407delCT	c.(406-408)cttfs	p.L136fs	MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	136					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						TAATCCAATAAGACTGAAGACC	0.376													8	34	---	---	---	---	0	0
MRPS25	64432	broad.mit.edu	37	3	15094107	15094108	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:15094107_15094108insT	ENST00000253686.2	-	4	502_503	c.362_363insA	c.(361-363)aagfs	p.K121fs	MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.S92fs|MRPS25_ENST00000449354.2_Intron	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	121					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						GAGAAAGCTGCTTTTTCTCCTC	0.579													16	261	---	---	---	---	0	0
CDH9	1007	broad.mit.edu	37	5	26886127	26886127	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:26886127delT	ENST00000231021.4	-	10	1750	c.1578delA	c.(1576-1578)gaafs	p.E526fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGCACTGGTTCAAAAAAGA	0.313													33	171	---	---	---	---	0	0
DUSP13	0	broad.mit.edu	37	10	76855428	76855429	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:76855428_76855429insAA	ENST00000491677.2	-	7	1227_1228	c.685_686insTT	c.(685-687)tatfs	p.Y229fs	DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.Y236fs|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.Y122fs|DUSP13_ENST00000472493.2_Frame_Shift_Ins_p.Y100fs|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.Y193fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.Y150fs|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Intron	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	91						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTCGATGCCATAGTACTCCAGG	0.559													35	178	---	---	---	---	0	0
CEP112	201134	broad.mit.edu	37	17	63739297	63739297	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:63739297delT	ENST00000392769.2	-	23	2714	c.2496delA	c.(2494-2496)aaafs	p.K832fs	CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs|CEP112_ENST00000541355.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	832						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TGTTCTCTTCTTTCAGAGAGG	0.408													40	152	---	---	---	---	0	0
MALAT1	0	broad.mit.edu	37	11	65273529	65273531	+	RNA	DEL	TTG	TTG	-			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:65273529_65273531delTTG	ENST00000534336.1	+	0	8297_8299					NR_002819.2																						ACAACACGTATTGTTTTCTCAGG	0.414													21	66	---	---	---	---	0	0
MIB1	57534	broad.mit.edu	37	18	19395662	19395663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19395662_19395663insT	ENST00000261537.6	+	11	1829_1830	c.1565_1566insT	c.(1564-1569)gatttgfs	p.L523fs	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	523					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGTAGTGCTGATTTGAATGCTC	0.411													21	61	---	---	---	---	0	0
PDK3	5165	broad.mit.edu	37	X	24545741	24545741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chrX:24545741delC	ENST00000441463.2	+	8	801	c.801delC	c.(799-801)tacfs	p.Y267fs	PDK3_ENST00000379162.4_Frame_Shift_Del_p.Y267fs	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	267	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAGAGGGCTACCCTGCTGTTA	0.338													2	4	---	---	---	---	0	0
CAPSL	133690	broad.mit.edu	37	5	35910128	35910128	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:35910128delT	ENST00000397367.2	-	4	491	c.365delA	c.(364-366)aagfs	p.K122fs	CAPSL_ENST00000397366.1_Frame_Shift_Del_p.K122fs|CAPSL_ENST00000514524.1_Frame_Shift_Del_p.K122fs	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	122	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CTTGTCTAACTTTCTAAAAGC	0.388													33	68	---	---	---	---	0	0
FABP4	2167	broad.mit.edu	37	8	82391107	82391107	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:82391107delC	ENST00000256104.4	-	4	487	c.392delG	c.(391-393)agafs	p.R131fs	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	131					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GGCTTATGCTCTCTCATAAAC	0.383													18	59	---	---	---	---	0	0
ASPN	54829	broad.mit.edu	37	9	95228754	95228754	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr9:95228754delT	ENST00000375544.3	-	4	730	c.487delA	c.(487-489)agtfs	p.S163fs	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	163					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373													22	110	---	---	---	---	0	0
MCM3AP	8888	broad.mit.edu	37	21	47692564	47692565	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr21:47692564_47692565delGT	ENST00000397708.1	-	9	2629_2630	c.2375_2376delAC	c.(2374-2376)gacfs	p.D792fs	MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.D792fs			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	792					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGTTTCTCAGGTCCTGGTACAT	0.5													45	102	---	---	---	---	0	0
CREB3	10488	broad.mit.edu	37	9	35736505	35736506	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr9:35736505_35736506delTG	ENST00000353704.2	+	9	1336_1337	c.898_899delTG	c.(898-900)tgtfs	p.C300fs	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	324					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CGGCTCAGACTGTGTACTCCAG	0.614											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	129	---	---	---	---	0	0
TTLL12	23170	broad.mit.edu	37	22	43578990	43578991	+	Frame_Shift_Ins	INS	-	-	G	rs34872708		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr22:43578990_43578991insG	ENST00000216129.6	-	2	405_406	c.342_343insC	c.(340-345)cccaacfs	p.N115fs		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	115					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCCTACCTGTTGGGGTGGGCTG	0.639													18	32	---	---	---	---	0	0
FKBP7	51661	broad.mit.edu	37	2	179343217	179343217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:179343217delT	ENST00000424785.2	-	1	68	c.10delA	c.(10-12)accfs	p.T4fs	FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	4					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AAATGCATGGTTTTTGGCATC	0.522													7	303	---	---	---	---	0	0
KIAA1257	57501	broad.mit.edu	37	3	128696988	128696988	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:128696988delT	ENST00000265068.5	-	5	875	c.708delA	c.(706-708)gaafs	p.E236fs	KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs|KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358													7	66	---	---	---	---	0	0
KDM6A	7403	broad.mit.edu	37	X	44969453	44969453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chrX:44969453delA	ENST00000377967.4	+	28	4176	c.4135delA	c.(4135-4137)aaafs	p.K1379fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs|KDM6A_ENST00000479423.1_3'UTR	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1379					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.Y1378fs(2)|p.M1380fs*9(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGAACAGTACAAAATGGAGGA	0.388			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								63	22	---	---	---	---	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342400	40342400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:40342400delC	ENST00000406785.2	-	8	2996	c.2807delG	c.(2806-2808)ggcfs	p.G936fs	SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.G972fs|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.G936fs|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.G964fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000599740.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCTTTAGAAGCCTTTTATGTG	0.398													25	41	---	---	---	---	0	0
POGZ	23126	broad.mit.edu	37	1	151377502	151377515	+	Frame_Shift_Del	DEL	TAATGTTGCCATCG	TAATGTTGCCATCG	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:151377502_151377515delTAATGTTGCCATCG	ENST00000271715.2	-	19	4310_4323	c.3996_4009delCGATGGCAACATTA	c.(3994-4011)cccgatggcaacattaacfs	p.DGNIN1333fs	POGZ_ENST00000540984.1_Frame_Shift_Del_p.DGNIN695fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.DGNIN1289fs|POGZ_ENST00000531094.1_Frame_Shift_Del_p.DGNIN1271fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.DGNIN1280fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.DGNIN1238fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.DGNIN1324fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.DGNIN1280fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1333					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCA	0.542											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	35	---	---	---	---	0	0
IRF4	3662	broad.mit.edu	37	6	397161	397161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:397161delC	ENST00000380956.4	+	5	672	c.546delC	c.(544-546)gtcfs	p.V182fs	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	182					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGGACTACGTCCCGGATCAGC	0.567			T	IGH@	MM								25	119	---	---	---	---	0	0
PHACTR1	221692	broad.mit.edu	37	6	13206177	13206177	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:13206177delG	ENST00000379350.1	+	7	924	c.795delG	c.(793-795)aagfs	p.K265fs	PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs|PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	265						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAGCCCAGAAGAGTGGCCAGC	0.627													18	58	---	---	---	---	0	0
DNAH11	8701	broad.mit.edu	37	7	21882351	21882351	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr7:21882351delT	ENST00000328843.6	+	67	10933	c.10902delT	c.(10900-10902)gatfs	p.D3634fs	DNAH11_ENST00000409508.3_Frame_Shift_Del_p.D3627fs			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3634	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGGCCAGATTTGGAGAAAC	0.423									Kartagener syndrome				2	4	---	---	---	---	0	0
BRCA2	675	broad.mit.edu	37	13	32972737	32972738	+	Frame_Shift_Ins	INS	-	-	T	rs55881945		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr13:32972737_32972738insT	ENST00000544455.1	+	27	10314_10315	c.10087_10088insT	c.(10087-10089)atafs	p.I3363fs	BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3363					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAACAATTTATATCTGTCAGT	0.381			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			14	63	---	---	---	---	0	0
CCDC101	112869	broad.mit.edu	37	16	28597027	28597027	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:28597027delA	ENST00000317058.3	+	4	397	c.210delA	c.(208-210)gcafs	p.A70fs		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	70					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						AGGCCGATGCAGAGGCTGAGT	0.607													21	93	---	---	---	---	0	0
SPEN	23013	broad.mit.edu	37	1	16265833	16265834	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:16265833_16265834delGA	ENST00000375759.3	+	15	11110_11111	c.10906_10907delGA	c.(10906-10908)gagfs	p.E3636fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCTG	0.584													80	347	---	---	---	---	0	0
PARVG	64098	broad.mit.edu	37	22	44581708	44581708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr22:44581708delC	ENST00000444313.3	+	4	584	c.100delC	c.(100-102)ccafs	p.P35fs	PARVG_ENST00000422871.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000453888.3_3'UTR	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma						cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GAAATACCTGCCACCCACTTC	0.587													10	56	---	---	---	---	0	0
UBXN4	23190	broad.mit.edu	37	2	136536538	136536540	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:136536538_136536540delTAA	ENST00000272638.9	+	11	1385_1387	c.1074_1076delTAA	c.(1072-1077)ggtaat>ggt	p.N359del	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	359	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACACTTACGGTAATTTTTCGTTA	0.35													9	81	---	---	---	---	0	0
PDZD2	23037	broad.mit.edu	37	5	32091103	32091104	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:32091103_32091104insC	ENST00000438447.1	+	20	7937_7938	c.7549_7550insC	c.(7549-7551)accfs	p.T2517fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T2517fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2517					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTGGAGATCACCCCCAGGAGG	0.614													9	93	---	---	---	---	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578194	67578195	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:67578194_67578195insA	ENST00000310421.4	-	1	1257_1258	c.999_1000insT	c.(997-1002)actgggfs	p.G334fs		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	334	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATCTTTCCCAGTGCACTTCT	0.47													13	146	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7576890	7576890	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:7576890delT	ENST00000420246.2	-	9	1088	c.956delA	c.(955-957)aagfs	p.K321fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	321	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		K -> E (in kidney cancer; germline mutation).|K -> R (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K319R(1)|p.S314fs*25(1)|p.L308fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGTTTCTTCTTTGGCTGGGG	0.468		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	40	---	---	---	---	0	0
BRCC3	79184	broad.mit.edu	37	X	154305487	154305487	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:154305487delT	ENST00000369462.1	+	4	263	c.238delT	c.(238-240)ttafs	p.L80fs	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	80					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTCATCATCTTACGACGTTC	0.433													21	23	---	---	---	---	0	0
LMNA	4000	broad.mit.edu	37	1	156104218	156104218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:156104218delA	ENST00000368300.4	+	3	750	c.538delA	c.(538-540)aagfs	p.K181fs	LMNA_ENST00000368301.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000361308.4_Frame_Shift_Del_p.K181fs|LMNA_ENST00000368299.3_Frame_Shift_Del_p.K181fs|LMNA_ENST00000473598.2_Frame_Shift_Del_p.K82fs|LMNA_ENST00000347559.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000448611.2_Frame_Shift_Del_p.K69fs|LMNA_ENST00000392353.3_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368297.1_Frame_Shift_Del_p.K100fs	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	181	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGGTGAGGCCAAGAAGCAACT	0.542									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				15	33	---	---	---	---	0	0
PGBD2	0	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:249211828delT	ENST00000355360.4	+	3	562	c.292delT	c.(292-294)tttfs	p.F99fs	PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs|PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438													7	144	---	---	---	---	0	0
MSH2	4436	broad.mit.edu	37	2	47693894	47693895	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:47693894_47693895insA	ENST00000406134.1	+	10	1670_1671	c.1608_1609insA	c.(1609-1611)aaafs	p.K537fs	MSH2_ENST00000233146.2_Frame_Shift_Ins_p.K537fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.K471fs			P43246	MSH2_HUMAN	mutS homolog 2	537					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCGTAACAATAAAAACTTTAG	0.342			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				22	40	---	---	---	---	0	0
ATP2B2	491	broad.mit.edu	37	3	10429962	10429962	+	Splice_Site	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10429962delT	ENST00000397077.1	-	8	1481	c.906delA	c.(904-906)aaa>aa	p.K302fs	ATP2B2_ENST00000343816.4_Splice_Site_p.K302fs|ATP2B2_ENST00000360273.2_Splice_Site_p.K302fs|ATP2B2_ENST00000352432.4_Splice_Site_p.K302fs|ATP2B2_ENST00000383800.4_Splice_Site_p.K302fs			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	302					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.A303fs*56(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TAGGCTTACCTTTTTTGTCTT	0.453													48	94	---	---	---	---	0	0
TOP2B	7155	broad.mit.edu	37	3	25674067	25674067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:25674067delT	ENST00000435706.2	-	10	1322	c.1121delA	c.(1120-1122)aacfs	p.N374fs	TOP2B_ENST00000264331.4_Frame_Shift_Del_p.N379fs			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	379					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CCATATATGGTTTTTTACCTG	0.299													14	21	---	---	---	---	0	0
LPP	4026	broad.mit.edu	37	3	188327517	188327519	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:188327517_188327519delCTC	ENST00000312675.4	+	6	1244_1246	c.998_1000delCTC	c.(997-1002)actcct>act	p.P335del	LPP_ENST00000543006.1_In_Frame_Del_p.P335del|LPP_ENST00000448637.1_In_Frame_Del_p.P335del|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	335	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCAGGGTACACTCCTCCTGGAGC	0.552			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								17	66	---	---	---	---	0	0
GP5	2814	broad.mit.edu	37	3	194117340	194117341	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:194117340_194117341delCT	ENST00000401815.1	-	1	1742_1743	c.1671_1672delAG	c.(1669-1674)agagccfs	p.RA557fs	GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs			P40197	GPV_HUMAN	glycoprotein V (platelet)	557					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCCAAGGGCTCTCTCTCTGA	0.446													7	198	---	---	---	---	0	0
KIF2A	3796	broad.mit.edu	37	5	61677057	61677057	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:61677057delT	ENST00000381103.2	+	20	2437	c.1952delT	c.(1951-1953)atafs	p.I651fs	KIF2A_ENST00000407818.3_Frame_Shift_Del_p.I709fs|KIF2A_ENST00000401507.3_Frame_Shift_Del_p.I671fs|KIF2A_ENST00000506857.1_Frame_Shift_Del_p.I625fs|KIF2A_ENST00000509663.2_Intron	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	671					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GAGCAAAAAATAGACATTTTA	0.348													49	101	---	---	---	---	0	0
GPR98	84059	broad.mit.edu	37	5	89979676	89979677	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:89979676_89979677insT	ENST00000405460.2	+	28	6034_6035	c.5938_5939insT	c.(5938-5940)attfs	p.I1980fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1980					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S1982fs*2(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGATATTCATTTTTTCTGAG	0.401													15	23	---	---	---	---	0	0
ADRA1B	147	broad.mit.edu	37	5	159344293	159344293	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:159344293delG	ENST00000306675.3	+	1	504	c.381delG	c.(379-381)ctgfs	p.L127fs		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	127					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	TGGATGTCCTGTGCTGCACAG	0.622													32	38	---	---	---	---	0	0
NT5C3A	51251	broad.mit.edu	37	7	33061665	33061666	+	Splice_Site	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:33061665_33061666insT	ENST00000396152.2	-	5	553_554	c.251_252insA	c.(250-252)aag>aaAg	p.K84fs	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000610140.1_Splice_Site_p.K118fs|NT5C3A_ENST00000242210.7_Splice_Site_p.K123fs|NT5C3A_ENST00000405342.1_Splice_Site_p.K84fs|NT5C3A_ENST00000409467.1_Splice_Site_p.K72fs|NT5C3A_ENST00000381626.2_Splice_Site_p.K72fs|NT5C3A_ENST00000409787.1_Splice_Site_p.K84fs	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA									p.K123K(1)|p.K84K(1)									TAGTGTTTACCTTTTTTCTACA	0.322													4	7	---	---	---	---	0	0
KCNT1	57582	broad.mit.edu	37	9	138657029	138657029	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:138657029delC	ENST00000298480.5	+	12	1262	c.1188delC	c.(1186-1188)cacfs	p.H396fs	KCNT1_ENST00000490355.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000488444.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000263604.3_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.H351fs|KCNT1_ENST00000491806.2_Frame_Shift_Del_p.H363fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000486577.2_Frame_Shift_Del_p.H357fs			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	396						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCTACGCCCACCCCCGGCTCC	0.642													12	40	---	---	---	---	0	0
OR5F1	338674	broad.mit.edu	37	11	55762087	55762088	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:55762087_55762088insT	ENST00000278409.1	-	1	13_14	c.14_15insA	c.(13-15)aatfs	p.N5fs		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGAGGTATAATTTTTTCTGGT	0.307													16	44	---	---	---	---	0	0
OR8J1	219477	broad.mit.edu	37	11	56128471	56128471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:56128471delT	ENST00000303039.3	+	1	781	c.749delT	c.(748-750)attfs	p.I250fs		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCAGTCACAATTTTTTATGGG	0.348													8	113	---	---	---	---	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27829391	27829391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:27829391delG	ENST00000318304.8	+	18	1775	c.1492delG	c.(1492-1494)gggfs	p.G498fs	PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs|PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs|PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	498					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552													22	55	---	---	---	---	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72013161	72013161	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:72013161delA	ENST00000378743.3	-	27	5436	c.5078delT	c.(5077-5079)ttgfs	p.L1693fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1693					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAATTTCCGCAAAAATGGAAG	0.348													15	21	---	---	---	---	0	0
PDE8A	5151	broad.mit.edu	37	15	85659319	85659325	+	Frame_Shift_Del	DEL	ATTTTTG	ATTTTTG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:85659319_85659325delATTTTTG	ENST00000310298.4	+	17	1756_1762	c.1504_1510delATTTTTG	c.(1504-1512)atttttgaafs	p.IFE502fs	PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	502					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGACTTTGATATTTTTGAACTGGAGGC	0.493													22	55	---	---	---	---	0	0
PFN1	5216	broad.mit.edu	37	17	4850039	4850041	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:4850039_4850041delTTC	ENST00000225655.5	-	2	826_828	c.207_209delGAA	c.(205-210)cagaaa>caa	p.K70del	PFN1_ENST00000574872.1_In_Frame_Del_p.K34del	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	70					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CACCGAACATTTCTGGCCCCCAA	0.562													22	67	---	---	---	---	0	0
NCOR1	9611	broad.mit.edu	37	17	15965099	15965099	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:15965099delG	ENST00000268712.3	-	37	5754	c.5497delC	c.(5497-5499)cagfs	p.Q1833fs	NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1833	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACATCCATCTGGGGTGCAGAA	0.532													17	56	---	---	---	---	0	0
CACNB1	782	broad.mit.edu	37	17	37331578	37331579	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:37331578_37331579delAT	ENST00000394303.3	-	14	1871_1872	c.1664_1665delAT	c.(1663-1665)tatfs	p.Y555fs	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	555					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GCTCTTCCTCATAGTCTTCTTC	0.649											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	204	---	---	---	---	0	0
ENGASE	64772	broad.mit.edu	37	17	77079175	77079177	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:77079175_77079177delAGA	ENST00000579016.1	+	8	1112_1114	c.1112_1114delAGA	c.(1111-1116)gagaag>gag	p.K373del	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	373	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGTGTCTGGAGAAGAAGGATTT	0.562											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	67	---	---	---	---	0	0
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:45805663_45805664insC	ENST00000300843.4	+	18	2331_2332	c.2034_2035insC	c.(2035-2037)cccfs	p.P679fs	MARK4_ENST00000262891.4_Frame_Shift_Ins_p.A652fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	0					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639													42	132	---	---	---	---	0	0
ZNF616	90317	broad.mit.edu	37	19	52618188	52618188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:52618188delT	ENST00000600228.1	-	4	2490	c.2229delA	c.(2227-2229)aaafs	p.K743fs	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P744fs*3(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTTATAAGGTTTTTTGCCAG	0.393													11	85	---	---	---	---	0	0
PAXBP1	94104	broad.mit.edu	37	21	34132172	34132173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:34132172_34132173insT	ENST00000331923.4	-	6	1297_1298	c.1108_1109insA	c.(1108-1110)acafs	p.T370fs	PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.T370fs|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TGTATTATCTGTTTTTTGAGAT	0.406													26	85	---	---	---	---	0	0
CLTCL1	8218	broad.mit.edu	37	22	19226837	19226837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:19226837delA	ENST00000263200.10	-	5	828	c.756delT	c.(754-756)tttfs	p.F252fs	CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.F252fs|CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.F252fs	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	252	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCTCTGGAGGAAAAAACACAT	0.428			T	?	ALCL								42	97	---	---	---	---	0	0
GNAZ	2781	broad.mit.edu	37	22	23438097	23438099	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:23438097_23438099delTCA	ENST00000248996.4	+	2	881_883	c.215_217delTCA	c.(214-219)ctcatc>ctc	p.I74del	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	74						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TACAAGCCCCTCATCATCTACAA	0.606													17	160	---	---	---	---	0	0
GTSE1	51512	broad.mit.edu	37	22	46725429	46725429	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:46725429delA	ENST00000454366.1	+	11	2313	c.2101delA	c.(2101-2103)aaafs	p.K701fs		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	682					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGACATGAATAAAAATGTGGC	0.517													23	59	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108121643	108121643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr11:108121643delG	ENST00000278616.4	+	10	1836	c.1451delG	c.(1450-1452)tggfs	p.W484fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.W484fs	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	484					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTAAAACTCTGGAATAAAATT	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			15	54	---	---	---	---	0	0
DNASE2B	58511	broad.mit.edu	37	1	84880355	84880356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:84880355_84880356insT	ENST00000370665.3	+	6	923_924	c.890_891insT	c.(889-894)tcttatfs	p.Y298fs	DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.Y90fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	298					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TCACGACACTCTTATTTCAGTT	0.406													18	54	---	---	---	---	0	0
NEB	4703	broad.mit.edu	37	2	152521933	152521933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:152521933delG	ENST00000427231.2	-	42	5354	c.5152delC	c.(5152-5154)cagfs	p.Q1718fs	NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.Q1718fs	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	1718					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGGGGTGCTGGCGATACTTC	0.493													21	16	---	---	---	---	0	0
DNAH8	1769	broad.mit.edu	37	6	38875871	38875872	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:38875871_38875872insA	ENST00000359357.3	+	62	9091_9092	c.8837_8838insA	c.(8836-8841)ttacatfs	p.H2947fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.H3164fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.H2911fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAAGAACTTACATGTTGTTC	0.356													7	39	---	---	---	---	0	0
CSMD1	64478	broad.mit.edu	37	8	2807750	2807753	+	Splice_Site	DEL	TACA	TACA	-			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:2807750_2807753delTACA	ENST00000520002.1	-	68	10872_10873	c.10317_10318delTGTA	c.(10315-10320)tatgta>tata	p.V3440fs	CSMD1_ENST00000542608.1_Splice_Site_p.V3262fs|CSMD1_ENST00000602557.1_Splice_Site_p.V3440fs|CSMD1_ENST00000537824.1_Splice_Site_p.V3439fs|CSMD1_ENST00000400186.3_Splice_Site_p.V3263fs|CSMD1_ENST00000602723.1_Splice_Site_p.V3263fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3440						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACATGTACTTACATAACCATCTA	0.441													11	151	---	---	---	---	0	0
CDKN1B	1027	broad.mit.edu	37	12	12871144	12871145	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:12871144_12871145insCT	ENST00000228872.4	+	1	1087_1088	c.371_372insCT	c.(370-375)aactctfs	p.NS124fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.NS124fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	124					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GCTCCGGCTAACTCTGAGGACA	0.653													16	42	---	---	---	---	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748185	43748186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:43748185_43748186insT	ENST00000263801.3	-	12	2857_2858	c.2605_2606insA	c.(2605-2607)atgfs	p.M869fs	TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.M874fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	869					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCATTAGCCATTTTTGAGTCT	0.47								Other conserved DNA damage response genes					7	189	---	---	---	---	0	0
MED26	9441	broad.mit.edu	37	19	16688490	16688490	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:16688490delT	ENST00000263390.3	-	3	413	c.151delA	c.(151-153)acafs	p.T51fs	CTC-429P9.4_ENST00000593962.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Del_p.T59fs	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	51	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCAAGTCGTGTTTCCTACAAC	0.537													23	44	---	---	---	---	0	0
RP11-85M11.2	0	broad.mit.edu	37	3	165320249	165320250	+	RNA	DEL	TA	TA	-			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr3:165320249_165320250delTA	ENST00000496693.1	+	0	508																											TTTGCTCCAGTACTTCCAGCAA	0.351													8	63	---	---	---	---	0	0
PTEN	5728	broad.mit.edu	37	10	89720811	89720812	+	Frame_Shift_Ins	INS	-	-	A	rs121913291		TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr10:89720811_89720812insA	ENST00000371953.3	+	8	2319_2320	c.962_963insA	c.(961-966)acaaaafs	p.TK321fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	321	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTACTTTAACAAAAAATGATC	0.327	N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			15	108	---	---	---	---	0	0
MAN2A1	4124	broad.mit.edu	37	5	109124684	109124684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr5:109124684delT	ENST00000261483.4	+	11	2862	c.1810delT	c.(1810-1812)tttfs	p.F604fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	604					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAATTCTGCATTTCTTCTTAT	0.303													15	59	---	---	---	---	0	0
LAMA2	3908	broad.mit.edu	37	6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:129762070_129762072delGAA	ENST00000421865.2	+	43	6244_6246	c.6195_6197delGAA	c.(6193-6198)ctgaag>ctg	p.K2067del		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2067	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438													7	38	---	---	---	---	0	0
JAG2	3714	broad.mit.edu	37	14	105615582	105615582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr14:105615582delA	ENST00000331782.3	-	13	2081	c.1678delT	c.(1678-1680)tgcfs	p.C560fs	JAG2_ENST00000347004.2_Frame_Shift_Del_p.C522fs	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	560	EGF-like 9.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGGCAGGCGCAGTAATAGTCA	0.662													62	334	---	---	---	---	0	0
MACF1	23499	broad.mit.edu	37	1	39907713	39907717	+	Frame_Shift_Del	DEL	AAATG	AAATG	-			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:39907713_39907717delAAATG	ENST00000564288.1	+	75	19539_19543	c.18762_18766delAAATG	c.(18760-18768)ttaaatgaafs	p.NE6255fs	MACF1_ENST00000372915.3_Frame_Shift_Del_p.NE6154fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.NE4066fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.NE6292fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.NE4698fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.NE4196fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6264					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGATCAGTTAAATGAAATGAAGGT	0.356													14	64	---	---	---	---	0	0
CHD1	1105	broad.mit.edu	37	5	98205472	98205473	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr5:98205472_98205473insAT	ENST00000284049.3	-	29	4241_4242	c.4092_4093insAT	c.(4090-4095)gatgaafs	p.E1365fs	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1365					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCATCATCTTCATCAGACTTCT	0.317													18	22	---	---	---	---	0	0
FAS	355	broad.mit.edu	37	10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:90768708delT	ENST00000355740.2	+	4	617	c.397delT	c.(397-399)tttfs	p.F134fs	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	134					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TAAACCAAACTTTTTTTGTAA	0.368													7	831	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62299465	62299466	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:62299465_62299466insA	ENST00000378024.4	-	5	2697_2698	c.2423_2424insT	c.(2422-2424)atgfs	p.M808fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	808					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCATCTCAGGCATCTTAAACTT	0.46													16	429	---	---	---	---	0	0
NCR2	9436	broad.mit.edu	37	6	41304075	41304075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr6:41304075delG	ENST00000373083.4	+	2	525	c.303delG	c.(301-303)gagfs	p.E102fs	NCR2_ENST00000373086.3_Frame_Shift_Del_p.E102fs|NCR2_ENST00000373089.5_Frame_Shift_Del_p.E102fs	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	102	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ATCTGAGAGAGGAAGACTCAG	0.517													7	189	---	---	---	---	0	0
FLT1	2321	broad.mit.edu	37	13	28919605	28919605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr13:28919605delG	ENST00000282397.4	-	16	2583	c.2332delC	c.(2332-2334)ctcfs	p.L778fs	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	778					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGGATAAAGAGGGTTAATAGG	0.413													12	29	---	---	---	---	0	0
PDZD2	23037	broad.mit.edu	37	5	32090268	32090268	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:32090268delC	ENST00000438447.1	+	20	7102	c.6714delC	c.(6712-6714)cacfs	p.H2238fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2238					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGAGGGTCACCCCCCACACA	0.637													8	701	---	---	---	---	0	0
CXorf22	170063	broad.mit.edu	37	X	36007559	36007559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:36007559delT	ENST00000297866.5	+	16	2903	c.2837delT	c.(2836-2838)gttfs	p.V946fs		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	946										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTAAAATGTGTTGCACATGTA	0.363													38	14	---	---	---	---	0	0
EVI5	7813	broad.mit.edu	37	1	92979385	92979385	+	Frame_Shift_Del	DEL	C	C	-	rs146602523		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:92979385delC	ENST00000370331.1	-	18	2270	c.2261delG	c.(2260-2262)ggtfs	p.G754fs	EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	754	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAAACCAACACCAGTTTCCTG	0.433													36	79	---	---	---	---	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864115	31864115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr21:31864115delC	ENST00000334063.4	-	1	160	c.161delG	c.(160-162)ggafs	p.G54fs		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	54						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AGAGCCATATCCATAGCCTCC	0.537													8	343	---	---	---	---	0	0
NUDT12	83594	broad.mit.edu	37	5	102888022	102888022	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:102888022delT	ENST00000230792.2	-	6	1270	c.1174delA	c.(1174-1176)atgfs	p.M392fs	NUDT12_ENST00000507423.1_Frame_Shift_Del_p.M374fs	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	392	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GAGGAAGGCATTGGCCATGGT	0.423													12	22	---	---	---	---	0	0
CDK12	51755	broad.mit.edu	37	17	37619348	37619349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:37619348_37619349insT	ENST00000447079.4	+	1	1057_1058	c.1024_1025insT	c.(1024-1026)ctgfs	p.L342fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.L342fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	342					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAAGCGGTCTCTGAGTCGGAGT	0.554			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			14	60	---	---	---	---	0	0
PDS5B	23047	broad.mit.edu	37	13	33226030	33226030	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr13:33226030delT	ENST00000315596.10	+	3	384	c.198delT	c.(196-198)gatfs	p.D66fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	66					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTGCTTCAGATTTTTTTCTCA	0.383													32	82	---	---	---	---	0	0
AMBP	259	broad.mit.edu	37	9	116825038	116825054	+	Splice_Site	DEL	TCTGCGGGGGAGAGAAA	TCTGCGGGGGAGAGAAA	-			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:116825038_116825054delTCTGCGGGGGAGAGAAA	ENST00000265132.3	-	7	866	c.604delTTTCTCTCCCCCGCAGA	c.(604-606)ttt>tt	p.F202fs		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	202					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CTCCGGACTCTCTGCGGGGGAGAGAAAGAGAAGAAGC	0.498													7	63	---	---	---	---	0	0
OR4F6	390648	broad.mit.edu	37	15	102346462	102346470	+	In_Frame_Del	DEL	TCTTCCTCG	TCTTCCTCG	-			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:102346462_102346470delTCTTCCTCG	ENST00000328882.4	+	1	561_569	c.540_548delTCTTCCTCG	c.(538-549)gatcttcctcga>gaa	p.180_183DLPR>E		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTTTTGTGATCTTCCTCGATTTATCAAA	0.368													14	108	---	---	---	---	0	0
ZNF287	57336	broad.mit.edu	37	17	16455883	16455885	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:16455883_16455885delGAA	ENST00000395824.1	-	6	2188_2190	c.1571_1573delTTC	c.(1570-1575)cttcag>cag	p.L524del	ZNF287_ENST00000395825.3_In_Frame_Del_p.L524del			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	517					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTTGATGCTGAAGAAGGTGTGT	0.35													23	74	---	---	---	---	0	0
OR5M10	390167	broad.mit.edu	37	11	56344440	56344440	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:56344440delC	ENST00000526812.2	-	1	823	c.758delG	c.(757-759)ggafs	p.G253fs		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GAAGAGGGTTCCATAAAACAA	0.438													48	184	---	---	---	---	0	0
RBKS	64080	broad.mit.edu	37	2	28004505	28004506	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr2:28004505_28004506insT	ENST00000302188.3	-	8	1697_1698	c.945_946insA	c.(943-948)aaagacfs	p.D316fs	AC110084.1_ENST00000601759.1_Intron	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	316					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCGGAAGGTCTTTTTTGTAAG	0.421													38	67	---	---	---	---	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43630134	43630136	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-EJ-A7NF-01A-11D-A33T-08	TCGA-EJ-A7NF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1f24ca-9ea6-45b4-aae1-2174a9670065	db974012-6d0c-44c3-ae87-e0f05d96abdc	g.chr1:43630134_43630136delTCT	ENST00000431635.2	-	10	1212_1214	c.1064_1066delAGA	c.(1063-1068)aagatg>atg	p.K355del	EBNA1BP2_ENST00000236051.2_In_Frame_Del_p.K300del	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	300					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTTCTTCATCTTCTCTCTTGT	0.424													32	50	---	---	---	---	0	0
BCL6	604	broad.mit.edu	37	3	187446240	187446240	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr3:187446240delG	ENST00000406870.2	-	6	1814	c.1448delC	c.(1447-1449)ccafs	p.P483fs	BCL6_ENST00000450123.2_Frame_Shift_Del_p.P483fs|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.P483fs	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	483					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGCATGCTGTGGGGACTGAGA	0.617			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								2	4	---	---	---	---	0	0
CUL9	23113	broad.mit.edu	37	6	43173002	43173002	+	Splice_Site	DEL	T	T	-			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr6:43173002delT	ENST00000252050.4	+	24	4718	c.4634delT	c.(4633-4635)atg>ag	p.M1545fs	CUL9_ENST00000372647.2_Splice_Site_p.M1545fs|CUL9_ENST00000354495.3_Splice_Site_p.M1435fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1545					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCCCCCAGATGAGTGAGCAG	0.572													16	238	---	---	---	---	0	0
SACS	26278	broad.mit.edu	37	13	23906843	23906852	+	Frame_Shift_Del	DEL	AAGGTCACTA	AAGGTCACTA	-			TCGA-EJ-A7NJ-01A-22D-A34U-08	TCGA-EJ-A7NJ-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eafb824c-0e84-48ec-886f-8c499ac06f94	0fe4914b-4eed-4620-bd08-4a854ee94df6	g.chr13:23906843_23906852delAAGGTCACTA	ENST00000382298.3	-	10	11751_11760	c.11163_11172delTAGTGACCTT	c.(11161-11172)ggtagtgaccttfs	p.GSDL3721fs	SACS_ENST00000382292.3_Frame_Shift_Del_p.GSDL3721fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.GSDL2971fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3721					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTGTGGACCAAGGTCACTACCTTCTTGTT	0.386													7	94	---	---	---	---	0	0
EQTN	54586	broad.mit.edu	37	9	27291028	27291030	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr9:27291028_27291030delATT	ENST00000380032.3	-	5	491_493	c.408_410delAAT	c.(406-411)acaatg>acg	p.M137del	EQTN_ENST00000537675.1_In_Frame_Del_p.M108del	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		TTTAGCTAACATTGTCCAAAATG	0.335													13	22	---	---	---	---	0	0
SGCD	6444	broad.mit.edu	37	5	156186353	156186353	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr5:156186353delG	ENST00000435422.3	+	8	1309	c.822delG	c.(820-822)cagfs	p.Q274fs	SGCD_ENST00000337851.4_Frame_Shift_Del_p.Q275fs	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	274					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTGTCTCAGGCAGGAGCTG	0.502													9	157	---	---	---	---	0	0
KMT2D	8085	broad.mit.edu	37	12	49445273	49445274	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr12:49445273_49445274delCT	ENST00000301067.7	-	10	2191_2192	c.2192_2193delAG	c.(2191-2193)gagfs	p.E731fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGAGTTGCGGCTCCTCAGGTAG	0.688													28	59	---	---	---	---	0	0
SMARCA1	6594	broad.mit.edu	37	X	128631828	128631829	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:128631828_128631829insT	ENST00000371122.4	-	11	1626_1627	c.1497_1498insA	c.(1495-1500)aaagaafs	p.E500fs	SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.E500fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.E500fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	500	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCACCCTGTTCTTTGAGTTTGG	0.312													28	18	---	---	---	---	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671567	112671568	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr6:112671567_112671568insT	ENST00000441065.2	+	3	969_970	c.657_658insT	c.(658-660)tttfs	p.F220fs		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	220	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAGAAATCCAGTTTTTTGATGT	0.455													17	25	---	---	---	---	0	0
SRP54	6729	broad.mit.edu	37	14	35480857	35480857	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A8FU-01A-11D-A364-08	TCGA-EJ-A8FU-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293f781c-c2c7-479b-b1a6-5f951a2c5e5a	e77da017-5dc6-4e32-9568-755e4ee9b533	g.chr14:35480857delA	ENST00000556994.1	+	9	1025	c.628delA	c.(628-630)aatfs	p.N210fs	SRP54_ENST00000546080.1_Frame_Shift_Del_p.N161fs|SRP54_ENST00000216774.6_Frame_Shift_Del_p.N210fs|SRP54_ENST00000555557.1_Frame_Shift_Del_p.N146fs			P61011	SRP54_HUMAN	signal recognition particle 54kDa	210	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		TCAAGTTGCTAATGCTATAGT	0.274													9	174	---	---	---	---	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216686	26216706	+	In_Frame_Del	DEL	GATGCCCATGGCCTTGGATGA	GATGCCCATGGCCTTGGATGA	-	rs140919872	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:26216686_26216706delGATGCCCATGGCCTTGGATGA	ENST00000244601.3	-	1	166_186	c.166_186delTCATCCAAGGCCATGGGCATC	c.(166-186)tcatccaaggccatgggcatcdel	p.SSKAMGI56del		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	56					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				AGGAATTCATGATGCCCATGGCCTTGGATGAGATGCCAGTA	0.538													12	228	---	---	---	---	0	0
PCID2	55795	broad.mit.edu	37	13	113854766	113854766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:113854766delG	ENST00000375457.2	-	2	691	c.95delC	c.(94-96)cctfs	p.P32fs	PCID2_ENST00000375459.1_Frame_Shift_Del_p.P32fs|PCID2_ENST00000246505.5_Frame_Shift_Del_p.P34fs|PCID2_ENST00000337344.4_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375479.2_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375477.1_Frame_Shift_Del_p.P34fs	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	34					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TGCAACATGAGGATGTTTAAA	0.443													35	93	---	---	---	---	0	0
RNF31	55072	broad.mit.edu	37	14	24619808	24619809	+	Splice_Site	INS	-	-	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:24619808_24619809insG	ENST00000324103.6	+	8	1519_1520	c.1199_1200insG	c.(1198-1203)cagggg>caGgggg	p.QG400fs	RNF31_ENST00000559275.1_Splice_Site_p.QG249fs|RNF31_ENST00000382687.3_Splice_Site_p.QG249fs	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	400	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCTTCCCAGCAGGGGGATGCTT	0.52													51	382	---	---	---	---	0	0
BRPF1	7862	broad.mit.edu	37	3	9783062	9783063	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:9783062_9783063insG	ENST00000383829.2	+	5	2197_2198	c.1793_1794insG	c.(1792-1797)ttggagfs	p.E599fs	BRPF1_ENST00000457855.1_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000302054.3_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000433861.2_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000424362.1_Frame_Shift_Ins_p.E599fs	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	599	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGGCATGACTTGGAGCGAGCTC	0.51													52	99	---	---	---	---	0	0
PTEN	5728	broad.mit.edu	37	10	89717695	89717696	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:89717695_89717696insT	ENST00000371953.3	+	7	2077_2078	c.720_721insT	c.(721-723)tttfs	p.F241fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	241	C2 tensin-type.		F -> S (in MCEPHAS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241L(1)|p.G165_*404del(1)|p.?(1)|p.F241fs*1(1)|p.Y240*(1)|p.R234fs*9(1)|p.F241fs*17(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTCATGTACTTTGAGTTCCC	0.411		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			28	58	---	---	---	---	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767137	41767137	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:41767137delT	ENST00000379483.3	-	1	1565	c.1257delA	c.(1255-1257)gcafs	p.A419fs		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	419							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCAAGCGATCTGCAAGTTGCT	0.498													20	83	---	---	---	---	0	0
BCHE	590	broad.mit.edu	37	3	165491240	165491240	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:165491240delT	ENST00000264381.3	-	4	1905	c.1739delA	c.(1738-1740)aatfs	p.N580fs	BCHE_ENST00000540653.1_Frame_Shift_Del_p.N42fs	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	580					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CATCATGTAATTGTTCCAGCG	0.313													13	7	---	---	---	---	0	0
GALNT13	114805	broad.mit.edu	37	2	155099377	155099377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:155099377delA	ENST00000392825.3	+	6	1212	c.645delA	c.(643-645)ttafs	p.L215fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	215	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AATGCACGTTAGGATGGCTGG	0.473													8	51	---	---	---	---	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68719842	68719845	+	Frame_Shift_Del	DEL	ACTG	ACTG	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:68719842_68719845delACTG	ENST00000283916.6	-	3	288_291	c.190_193delCAGT	c.(190-195)cagttafs	p.QL64fs	TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.Q64*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGAATTTAACTGACTATTATAT	0.304													7	119	---	---	---	---	0	0
VEZF1	7716	broad.mit.edu	37	17	56060635	56060635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:56060635delT	ENST00000584396.1	-	2	214	c.126delA	c.(124-126)aaafs	p.K42fs	VEZF1_ENST00000581208.1_Frame_Shift_Del_p.K51fs			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	51					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CACCCTGAGGTTTCTGAGTTA	0.473													7	212	---	---	---	---	0	0
ZNF333	84449	broad.mit.edu	37	19	14829233	14829251	+	Frame_Shift_Del	DEL	CCTATGCATGTAACAAATG	CCTATGCATGTAACAAATG	-			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:14829233_14829251delCCTATGCATGTAACAAATG	ENST00000292530.6	+	12	1185_1203	c.1094_1112delCCTATGCATGTAACAAATG	c.(1093-1113)tcctatgcatgtaacaaatgtfs	p.SYACNKC365fs	ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGGGATAAATCCTATGCATGTAACAAATGTGAAAAATCC	0.438													8	67	---	---	---	---	0	0
MUC3A	4584	broad.mit.edu	37	7	100552898	100552898	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr7:100552898delG	ENST00000319509.7	+	2	1543	c.1543delG	c.(1543-1545)ggcfs	p.G515fs						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGACAATGGTGGCACCTGGGA	0.567													9	157	---	---	---	---	0	0
GSE1	23199	broad.mit.edu	37	16	85701839	85701840	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr16:85701839_85701840insT	ENST00000253458.7	+	14	3400_3401	c.3224_3225insT	c.(3223-3228)cctccafs	p.P1076fs	GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P972fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P1003fs	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		AGCCGCGCCCCTCCACCCCAGC	0.639													14	123	---	---	---	---	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377297	104377297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:104377297delA	ENST00000535008.1	+	4	745	c.621delA	c.(619-621)gcafs	p.A207fs	LHFPL3_ENST00000401970.2_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000543266.1_Frame_Shift_Del_p.A207fs|LHFPL3_ENST00000424859.1_Frame_Shift_Del_p.A193fs			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	193						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						CATTTCTAGCATTTGTGCTTG	0.448													9	12	---	---	---	---	0	0
OR5H14	403273	broad.mit.edu	37	3	97868429	97868429	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:97868429delC	ENST00000437310.1	+	1	260	c.200delC	c.(199-201)gctfs	p.A67fs		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGGAATTTAGCTTTTGTGGAT	0.398													10	296	---	---	---	---	0	0
MTUS1	57509	broad.mit.edu	37	8	17613213	17613215	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr8:17613213_17613215delGGT	ENST00000381869.3	-	2	575_577	c.102_104delACC	c.(100-105)ccacct>cct	p.34_35PP>P	MTUS1_ENST00000262102.6_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000381862.3_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000519263.1_In_Frame_Del_p.34_35PP>P	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	34						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTTTTGTGTAGGTGGTGATTTCG	0.399													10	158	---	---	---	---	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227525	43227526	+	In_Frame_Ins	INS	-	-	GGAGCT			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:43227525_43227526insGGAGCT	ENST00000332499.2	+	1	2842_2843	c.968_969insGGAGCT	c.(967-972)cgggag>cgGGAGCTggag	p.328_329insLE		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	328	Required for inhibition of ESR1-dependent transcription.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCGTGTGCGGGAGCTGGAGC	0.668													17	112	---	---	---	---	0	0
CLASRP	11129	broad.mit.edu	37	19	45567373	45567375	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:45567373_45567375delGAG	ENST00000544944.2	+	11	1701_1703	c.1009_1011delGAG	c.(1009-1011)gagdel	p.E338del	CLASRP_ENST00000391953.4_In_Frame_Del_p.E276del|CLASRP_ENST00000221455.3_In_Frame_Del_p.E338del			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	338					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGGCAGCGATGAGGAGGCAGCCG	0.704													7	35	---	---	---	---	0	0
UBR2	23304	broad.mit.edu	37	6	42609419	42609427	+	In_Frame_Del	DEL	CTAGTAAAC	CTAGTAAAC	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:42609419_42609427delCTAGTAAAC	ENST00000372899.1	+	17	2278_2286	c.2020_2028delCTAGTAAAC	c.(2020-2028)ctagtaaacdel	p.LVN674del	UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del|UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	674					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGGGTTCTCTCTAGTAAACCAGGTAAGTG	0.411													31	88	---	---	---	---	0	0
KRT18	3875	broad.mit.edu	37	12	53344130	53344156	+	In_Frame_Del	DEL	GACAATGCCCGCATCGTTCTGCAGATT	GACAATGCCCGCATCGTTCTGCAGATT	-	rs59979366	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT	ENST00000550600.1	+	3	490_516	c.436_462delGACAATGCCCGCATCGTTCTGCAGATT	c.(436-462)gacaatgcccgcatcgttctgcagattdel	p.DNARIVLQI146del	KRT18_ENST00000388837.2_In_Frame_Del_p.DNARIVLQI146del|KRT18_ENST00000388835.3_In_Frame_Del_p.DNARIVLQI146del			P05783	K1C18_HUMAN	keratin 18	146	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAATACTGTGGACAATGCCCGCATCGTTCTGCAGATTGACAATGCCC	0.498													7	759	---	---	---	---	0	0
PDZD4	57595	broad.mit.edu	37	X	153072793	153072793	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chrX:153072793delC	ENST00000164640.4	-	3	519	c.328delG	c.(328-330)gcgfs	p.A110fs	PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_Frame_Shift_Del_p.A35fs|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	110						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATAAACTCCGCCGGGTCATAA	0.667													9	18	---	---	---	---	0	0
TMCC2	9911	broad.mit.edu	37	1	205238670	205238670	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:205238670delA	ENST00000358024.3	+	3	1729	c.1340delA	c.(1339-1341)gacfs	p.D447fs	TMCC2_ENST00000545499.1_Frame_Shift_Del_p.D369fs|TMCC2_ENST00000329800.7_Frame_Shift_Del_p.D207fs|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	447						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACCTGAAGGACCCCCTGGAA	0.642													7	104	---	---	---	---	0	0
POM121C	100101267	broad.mit.edu	37	7	75053866	75053867	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:75053866_75053867insT	ENST00000453279.2	-	11	1677_1678	c.813_814insA	c.(811-816)ctagacfs	p.D272fs	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Frame_Shift_Ins_p.D514fs	NM_001099415.1	NP_001092885	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	514	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TTCTCTAAGTCTAGGTCCTCGG	0.51													102	194	---	---	---	---	0	0
MALAT1	0	broad.mit.edu	37	11	65273415	65273415	+	RNA	DEL	T	T	-			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr11:65273415delT	ENST00000534336.1	+	0	8183					NR_002819.2																						CTGCTAAGACTTTTTCAGGTG	0.448													18	127	---	---	---	---	0	0
ITPR2	3709	broad.mit.edu	37	12	26864155	26864156	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr12:26864155_26864156insT	ENST00000381340.3	-	9	1317_1318	c.901_902insA	c.(901-903)agcfs	p.S301fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	301	MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTGAACAAGCTGTTCCACTGT	0.416													7	74	---	---	---	---	0	0
PCSK5	5125	broad.mit.edu	37	9	78790077	78790078	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr9:78790077_78790078insGG	ENST00000376767.3	+	14	2444_2445	c.1932_1933insGG	c.(1933-1935)aagfs	p.K645fs	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACAGGCTAAAAAGAGGCAGCT	0.485													10	51	---	---	---	---	0	0
RC3H1	149041	broad.mit.edu	37	1	173941766	173941767	+	Splice_Site	INS	-	-	TA			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:173941766_173941767insTA	ENST00000367696.2	-	8	1454		c.e8-1		RC3H1_ENST00000258349.4_Splice_Site|RC3H1_ENST00000367694.2_Splice_Site			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1						cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGAGGAGCATCTATACAACCAA	0.361													11	69	---	---	---	---	0	0
ERCC6	2074	broad.mit.edu	37	10	50736488	50736492	+	Frame_Shift_Del	DEL	ATCTA	ATCTA	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:50736488_50736492delATCTA	ENST00000355832.5	-	4	701_705	c.623_627delTAGAT	c.(622-627)ctagatfs	p.LD208fs	ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.LD208fs|PGBD3_ENST00000603152.1_Frame_Shift_Del_p.LD208fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	208					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACTGGCGTGATCTAGTTCAATTTT	0.459								Direct reversal of damage;Nucleotide excision repair (NER)					16	56	---	---	---	---	0	0
KLK2	3817	broad.mit.edu	37	19	51379825	51379826	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:51379825_51379826delAA	ENST00000325321.3	+	3	529_530	c.304_305delAA	c.(304-306)aatfs	p.N102fs	KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Frame_Shift_Del_p.N102fs			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	102	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCCGCTCTACAATATGAGCCTT	0.554			T	ETV4	prostate								15	34	---	---	---	---	0	0
SFI1	9814	broad.mit.edu	37	22	32007282	32007282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr22:32007282delG	ENST00000432498.1	+	22	2708	c.2315delG	c.(2314-2316)aggfs	p.R772fs	SFI1_ENST00000400288.2_Frame_Shift_Del_p.R803fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.R748fs|SFI1_ENST00000414585.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000400289.1_Frame_Shift_Del_p.R721fs	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	803					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAGTGTGTCAGGAAGAGGGTG	0.622													10	26	---	---	---	---	0	0
CD63	0	broad.mit.edu	37	12	56119956	56119956	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:56119956delA	ENST00000549117.1	-	6	952	c.516delT	c.(514-516)aatfs	p.N172fs	CD63_ENST00000552754.1_Frame_Shift_Del_p.N149fs|CD63_ENST00000552692.1_Frame_Shift_Del_p.N172fs|CD63_ENST00000420846.3_Frame_Shift_Del_p.N172fs|CD63_ENST00000548160.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000546939.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000552067.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000548898.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000257857.4_Frame_Shift_Del_p.N172fs|CD63_ENST00000550776.1_Frame_Shift_Del_p.N90fs	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	172					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCACAGTAACATTAATGCAGC	0.498													13	99	---	---	---	---	0	0
ZFHX3	463	broad.mit.edu	37	16	72831219	72831223	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:72831219_72831223delGCAGG	ENST00000268489.5	-	9	6030_6034	c.5358_5362delCCTGC	c.(5356-5364)accctgctgfs	p.LL1787fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.LL873fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1787					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTAGTTGCAGCAGGGTCTCAGTTG	0.58													7	146	---	---	---	---	0	0
TSPAN7	7102	broad.mit.edu	37	X	38525456	38525456	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chrX:38525456delT	ENST00000378482.2	+	2	340	c.163delT	c.(163-165)tccfs	p.S55fs	TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.S85fs|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.S81fs|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.S29fs|TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.S72fs	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	55					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCCGAGAACTCCACAAATGC	0.512													17	38	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47696457	47696462	+	In_Frame_Del	DEL	TGCCCG	TGCCCG	-			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:47696457_47696462delTGCCCG	ENST00000393331.3	-	7	831_836	c.361_366delCGGGCA	c.(361-366)cgggcadel	p.RA121del	SPOP_ENST00000503676.1_In_Frame_Del_p.RA121del|SPOP_ENST00000393328.2_In_Frame_Del_p.RA121del|SPOP_ENST00000347630.2_In_Frame_Del_p.RA121del|SPOP_ENST00000504102.1_In_Frame_Del_p.RA121del	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	121	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.R121Q(1)|p.A122delA(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAAACCTATATGCCCGTTGACTCTCT	0.427										Prostate(2;0.17)			8	102	---	---	---	---	0	0
SLC4A7	9497	broad.mit.edu	37	3	27472797	27472798	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:27472797_27472798delAA	ENST00000295736.5	-	7	1184_1185	c.1114_1115delTT	c.(1114-1116)ttafs	p.L372fs	SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000425128.2_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.L381fs|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000455077.1_Intron	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	372						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GCCTGGAGTTAAGTCAACATTT	0.455													20	93	---	---	---	---	0	0
SLC9A3	6550	broad.mit.edu	37	5	480012	480012	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr5:480012delT	ENST00000264938.3	-	10	1595	c.1586delA	c.(1585-1587)gacfs	p.D529fs	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.D520fs|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	529						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CAGGATCCGGTCTCGAGACTT	0.607													9	130	---	---	---	---	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144070332	144070332	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr7:144070332delA	ENST00000056217.5	+	10	4269	c.4095delA	c.(4093-4095)acafs	p.T1365fs	ARHGEF5_ENST00000471847.2_Frame_Shift_Del_p.T287fs	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1365					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGCGACGGACAGAGGAACTAA	0.522													18	201	---	---	---	---	0	0
AHNAK	79026	broad.mit.edu	37	11	62299581	62299581	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr11:62299581delC	ENST00000378024.4	-	5	2582	c.2308delG	c.(2308-2310)gatfs	p.D770fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	770					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTTCACATCCACTTCTGGG	0.502													46	333	---	---	---	---	0	0
DMTF1	9988	broad.mit.edu	37	7	86795841	86795851	+	Frame_Shift_Del	DEL	ATAAAAGGCTT	ATAAAAGGCTT	-			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:86795841_86795851delATAAAAGGCTT	ENST00000394703.5	+	6	715_725	c.152_162delATAAAAGGCTT	c.(151-162)cataaaaggcttfs	p.HKRL51fs	DMTF1_ENST00000413276.2_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000394702.3_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000414194.2_5'UTR	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	51	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GAACCTCCACATAAAAGGCTTTGTTTGTCCT	0.365													8	42	---	---	---	---	0	0
LRRC41	10489	broad.mit.edu	37	1	46751117	46751117	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:46751117delG	ENST00000343304.6	-	4	1697	c.1412delC	c.(1411-1413)ccafs	p.P471fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	471										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGTGGAGAGTGGAACTGTGAA	0.567													13	77	---	---	---	---	0	0
SF1	7536	broad.mit.edu	37	11	64536550	64536551	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:64536550_64536551delTG	ENST00000377390.3	-	8	1167_1168	c.830_831delCA	c.(829-831)acafs	p.T277fs	SF1_ENST00000489544.1_5'UTR|SF1_ENST00000422298.2_Frame_Shift_Del_p.T162fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.T251fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.T277fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.T402fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.T277fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.T277fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	277					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGTACACACTGTGGTGTTGGT	0.505													82	330	---	---	---	---	0	0
KIAA0247	9766	broad.mit.edu	37	14	70125381	70125381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr14:70125381delC	ENST00000342745.4	+	2	385	c.72delC	c.(70-72)ttcfs	p.F24fs		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	24						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ATGGAGTGTTCCTTCCGCTAG	0.493													23	122	---	---	---	---	0	0
CDH5	1003	broad.mit.edu	37	16	66431906	66431906	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:66431906delC	ENST00000341529.3	+	9	1530	c.1382delC	c.(1381-1383)tccfs	p.S461fs	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	461	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GGAAAAGAATCCATTGTGCAA	0.542													45	131	---	---	---	---	0	0
SSB	6741	broad.mit.edu	37	2	170667531	170667531	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:170667531delC	ENST00000409333.1	+	10	1221	c.974delC	c.(973-975)tccfs	p.S325fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.S325fs|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	325					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CAACAAGAATCCCTAAACAAA	0.343													23	10	---	---	---	---	0	0
CLEC16A	23274	broad.mit.edu	37	16	11076736	11076738	+	Splice_Site	DEL	TCT	TCT	-			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:11076736_11076738delTCT	ENST00000409790.1	+	10	1189_1191	c.959_961delTCT	c.(958-963)gtcttc>gtc	p.F321del	CLEC16A_ENST00000409552.3_Splice_Site_p.F319del	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	321										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTCCGCCAGGTCTTCTTAATTAT	0.448													18	36	---	---	---	---	0	0
NBPF1	55672	broad.mit.edu	37	1	16893822	16893822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:16893822delC	ENST00000430580.2	-	25	3578	c.2691delG	c.(2689-2691)gagfs	p.E897fs	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	897	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGGCCCTTTCTCATCCAGCA	0.493													9	1785	---	---	---	---	0	0
NT5DC3	51559	broad.mit.edu	37	12	104192373	104192374	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:104192373_104192374delAA	ENST00000392876.3	-	5	646_647	c.606_607delTT	c.(604-609)ttttacfs	p.FY202fs	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	202							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ACCTTTCCGTAAAAGTCACTCA	0.441													8	89	---	---	---	---	0	0
ZNF568	374900	broad.mit.edu	37	19	37440624	37440627	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:37440624_37440627delACTT	ENST00000415168.1	+	5	753_756	c.377_380delACTT	c.(376-381)gacttafs	p.DL126fs	ZNF568_ENST00000333987.7_Frame_Shift_Del_p.DL190fs|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATAATTTAGACTTACTTAGATAT	0.363													34	93	---	---	---	---	0	0
RXFP1	59350	broad.mit.edu	37	4	159549858	159549858	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:159549858delA	ENST00000307765.5	+	11	1147	c.896delA	c.(895-897)gaafs	p.E299fs	RXFP1_ENST00000460056.2_Frame_Shift_Del_p.E218fs|RXFP1_ENST00000343542.5_Frame_Shift_Del_p.E299fs|RXFP1_ENST00000470033.1_Frame_Shift_Del_p.E266fs|RXFP1_ENST00000448688.2_Frame_Shift_Del_p.E194fs	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	299						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAACTGGATGAATTGTAAGTA	0.264													11	31	---	---	---	---	0	0
A1CF	29974	broad.mit.edu	37	10	52603796	52603796	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:52603796delT	ENST00000374001.2	-	3	325	c.186delA	c.(184-186)aaafs	p.K62fs	A1CF_ENST00000395495.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000282641.2_Frame_Shift_Del_p.K62fs|A1CF_ENST00000395489.2_Frame_Shift_Del_p.K55fs|A1CF_ENST00000373997.3_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373993.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373995.3_Frame_Shift_Del_p.K70fs			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor		RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTCGGGGAAGTTTTCCAATAA	0.403													36	82	---	---	---	---	0	0
ARID2	196528	broad.mit.edu	37	12	46245168	46245168	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr12:46245168delA	ENST00000334344.6	+	15	3434	c.3262delA	c.(3262-3264)aatfs	p.N1089fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.N940fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.N699fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1089	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCTCCCCCTAATAATGCAAG	0.522			"""N, S, F"""		hepatocellular carcinoma								30	111	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38061220	38061228	+	In_Frame_Del	DEL	CGTTCTCGA	CGTTCTCGA	-			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr14:38061220_38061228delCGTTCTCGA	ENST00000250448.2	-	2	822_830	c.761_769delTCGAGAACG	c.(760-771)ttcgagaacggc>tgc	p.254_257FENG>C	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.221_224FENG>C	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGTAGCAGCCGTTCTCGAACATGTTGCC	0.694													7	18	---	---	---	---	0	0
ABCA9	10350	broad.mit.edu	37	17	67016632	67016632	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr17:67016632delT	ENST00000340001.4	-	19	2708	c.2497delA	c.(2497-2499)aggfs	p.R833fs	ABCA9_ENST00000453985.2_Frame_Shift_Del_p.R833fs|ABCA9_ENST00000370732.2_Frame_Shift_Del_p.R833fs	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	833					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTGTTTTCCTTGTTTCGTGG	0.428													35	117	---	---	---	---	0	0
PTEN	5728	broad.mit.edu	37	10	89720833	89720833	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:89720833delA	ENST00000371953.3	+	8	2341	c.984delA	c.(982-984)gcafs	p.A328fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	328	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGACAAAGCAAATAAAGACA	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			21	74	---	---	---	---	0	0
HBG2	3048	broad.mit.edu	37	11	5275612	5275612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:5275612delG	ENST00000380259.2	-	7	1465	c.225delC	c.(223-225)gccfs	p.A75fs	HBG2_ENST00000380252.1_Frame_Shift_Del_p.A65fs|HBG2_ENST00000336906.4_Frame_Shift_Del_p.A75fs					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTTTATGGCATCTCCCA	0.527													11	217	---	---	---	---	0	0
KDM6A	7403	broad.mit.edu	37	X	44966780	44966783	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chrX:44966780_44966783delAAGT	ENST00000377967.4	+	27	4045_4046	c.4004_4005delAAGT	c.(4003-4005)gaa>g	p.E1335fs	KDM6A_ENST00000382899.4_Splice_Site_p.E1342fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Splice_Site_p.E1256fs|KDM6A_ENST00000536777.1_Splice_Site_p.E1290fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1335					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGCATTTGTGAAGTAAGTAATTGT	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								12	42	---	---	---	---	0	0
HSPA9	3313	broad.mit.edu	37	5	137892208	137892209	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:137892208_137892209delTT	ENST00000297185.3	-	16	2019_2020	c.1894_1895delAA	c.(1894-1896)aatfs	p.N632fs	HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	632					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTCTAATATTTTCTCCTGTT	0.401													86	100	---	---	---	---	0	0
CASZ1	54897	broad.mit.edu	37	1	10706334	10706334	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:10706334delG	ENST00000377022.3	-	17	3864	c.3547delC	c.(3547-3549)cacfs	p.H1183fs	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AAGAGACAGTGGAAGTGGAAC	0.547													28	49	---	---	---	---	0	0
SETDB1	9869	broad.mit.edu	37	1	150923074	150923075	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:150923074_150923075insA	ENST00000271640.5	+	13	1911_1912	c.1721_1722insA	c.(1720-1725)ttacctfs	p.P575fs	SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P575fs|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTTTCTACTTACCTCATGTCT	0.579													43	114	---	---	---	---	0	0
NBPF1	55672	broad.mit.edu	37	1	16891388	16891393	+	In_Frame_Del	DEL	CTTCCC	CTTCCC	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:16891388_16891393delCTTCCC	ENST00000430580.2	-	28	3972_3977	c.3085_3090delGGGAAG	c.(3085-3090)gggaagdel	p.GK1029del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1026	NBPF 6.|Poly-Glu.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		cccttcttttcttccccttccccttc	0.432													7	311	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	152012422	152012424	+	Splice_Site	DEL	CAC	CAC	-			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:152012422_152012424delCAC	ENST00000355193.2	-	4	608_609	c.390_391delGTG	c.(388-393)aggtga>agga	p.*131del	KMT2C_ENST00000262189.6_Splice_Site_p.*131del					lysine (K)-specific methyltransferase 2C																		CAGAGCTGTTCACTAGTAAAAAT	0.35													8	45	---	---	---	---	0	0
DOCK7	85440	broad.mit.edu	37	1	63099200	63099216	+	Frame_Shift_Del	DEL	TATGGTTCTGCACACTC	TATGGTTCTGCACACTC	-			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:63099200_63099216delTATGGTTCTGCACACTC	ENST00000251157.5	-	10	1102_1118	c.1069_1085delGAGTGTGCAGAACCATA	c.(1069-1086)gagtgtgcagaaccatatfs	p.ECAEPY357fs	DOCK7_ENST00000340370.5_Frame_Shift_Del_p.ECAEPY357fs|DOCK7_ENST00000404627.2_Frame_Shift_Del_p.ECAEPY357fs	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	357					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAAAATCATATATGGTTCTGCACACTCTCCAATGTCT	0.364													13	186	---	---	---	---	0	0
ETAA1	54465	broad.mit.edu	37	2	67631946	67631946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr2:67631946delA	ENST00000272342.5	+	5	2262	c.2132delA	c.(2131-2133)caafs	p.Q711fs	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	711						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AATAGCTCACAAATAGATAAG	0.348													16	86	---	---	---	---	0	0
RYK	6259	broad.mit.edu	37	3	133896849	133896850	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:133896849_133896850delAT	ENST00000427044.2	-	12	1283_1284	c.673_674delAT	c.(673-675)atgfs	p.M225fs	RYK_ENST00000296084.4_Frame_Shift_Del_p.M415fs			P34925	RYK_HUMAN	receptor-like tyrosine kinase	411					corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						CCCCCAATTCATGTAAGGCAAT	0.337													13	32	---	---	---	---	0	0
EPC1	80314	broad.mit.edu	37	10	32576086	32576086	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr10:32576086delG	ENST00000319778.6	-	7	1394	c.1092delC	c.(1090-1092)ttcfs	p.F364fs	EPC1_ENST00000375110.2_Frame_Shift_Del_p.F314fs|EPC1_ENST00000263062.8_Frame_Shift_Del_p.F364fs	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	364					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CTTTAGCATTGAAGACTGGCA	0.463													11	128	---	---	---	---	0	0
NAA25	80018	broad.mit.edu	37	12	112486111	112486113	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr12:112486111_112486113delAGA	ENST00000261745.4	-	16	2111_2113	c.1863_1865delTCT	c.(1861-1866)cttcta>cta	p.621_622LL>L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	621						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGCTTCAAGTAGAAGGTCTAACA	0.399													8	65	---	---	---	---	0	0
BRAF	673	broad.mit.edu	37	7	140453122	140453133	+	In_Frame_Del	DEL	TCCATCGAGATT	TCCATCGAGATT	-	rs121913365		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:140453122_140453133delTCCATCGAGATT	ENST00000288602.6	-	15	1862_1873	c.1802_1813delAATCTCGATGGA	c.(1801-1815)aaatctcgatggagt>agt	p.KSRW601del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.K601N(10)|p.R603*(4)|p.S605G(3)|p.T599_R603>I(2)|p.W604del(2)|p.S605F(2)|p.W604G(2)|p.W604R(1)|p.K601I(1)|p.K601K(1)|p.K601del(1)|p.S602S(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.W604*(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGGGACCCACTCCATCGAGATTTCACTGTAGC	0.382	K601N(U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	93	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:7578222_7578223delTC	ENST00000420246.2	-	6	758_759	c.626_627delGA	c.(625-627)agafs	p.R209fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAAAGTGTTTCTGTCATCCAA	0.535		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			40	42	---	---	---	---	0	0
CNOT1	23019	broad.mit.edu	37	16	58559108	58559109	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr16:58559108_58559109insT	ENST00000317147.5	-	46	7090_7091	c.6758_6759insA	c.(6757-6759)aatfs	p.N2253fs	CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.N2248fs|CNOT1_ENST00000245138.4_Frame_Shift_Ins_p.N1104fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2253					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCACAGCCAAATTCTGGAAGAT	0.47													9	243	---	---	---	---	0	0
NCOR1	9611	broad.mit.edu	37	17	15968316	15968317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:15968316_15968317insG	ENST00000268712.3	-	34	5225_5226	c.4968_4969insC	c.(4966-4971)accaatfs	p.N1657fs	NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.N1673fs|NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.N241fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1657	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGAGGCATATTGGTCAGGTCAA	0.396													80	169	---	---	---	---	0	0
EXO5	64789	broad.mit.edu	37	1	40980662	40980663	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:40980662_40980663delAC	ENST00000372703.1	+	2	1520_1521	c.446_447delAC	c.(445-447)aacfs	p.N149fs	EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs					exonuclease 5																		AAGTTTCTGAACATACTTTTGC	0.46													7	102	---	---	---	---	0	0
ATP2A2	488	broad.mit.edu	37	12	110777198	110777199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:110777198_110777199insG	ENST00000395494.2	+	11	2014_2015	c.1451_1452insG	c.(1450-1455)atgtttfs	p.F485fs	ATP2A2_ENST00000539276.2_Frame_Shift_Ins_p.F512fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.F512fs			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	512					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGAGCAAGATGTTTGTGAAGG	0.381													18	60	---	---	---	---	0	0
FAM105A	54491	broad.mit.edu	37	5	14601484	14601487	+	Frame_Shift_Del	DEL	TTGA	TTGA	-			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr5:14601484_14601487delTTGA	ENST00000274217.3	+	4	401_404	c.281_284delTTGA	c.(280-285)gttgatfs	p.VD94fs		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	94										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GAGGCAGAGGTTGATTTACTCAGT	0.426													11	59	---	---	---	---	0	0
ZCCHC3	85364	broad.mit.edu	37	20	279007	279007	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:279007delC	ENST00000382352.3	+	1	1271	c.780delC	c.(778-780)ttcfs	p.F260fs		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	260							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TCATCCTCTTCCGGAACGAGA	0.597													25	74	---	---	---	---	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672552	44672552	+	Frame_Shift_Del	DEL	G	G	-	rs145624716		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:44672552delG	ENST00000243964.3	+	11	1472	c.1374delG	c.(1372-1374)gagfs	p.E458fs	SLC12A5_ENST00000454036.2_Frame_Shift_Del_p.E481fs	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	481					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTGCATTGAGGGGGTCGTCC	0.557													8	187	---	---	---	---	0	0
HEATR5B	54497	broad.mit.edu	37	2	37310452	37310453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:37310452_37310453insT	ENST00000233099.5	-	2	200_201	c.105_106insA	c.(103-108)aaagtcfs	p.V36fs	HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.V36fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	36							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAACCAAGACTTTATCAAGAA	0.371													31	58	---	---	---	---	0	0
XYLT1	64131	broad.mit.edu	37	16	17221576	17221577	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr16:17221576_17221577insT	ENST00000261381.6	-	10	2253_2254	c.2169_2170insA	c.(2167-2172)aaagtcfs	p.V724fs		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	724					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTTGAAGACTTTTTTCGGCA	0.49													22	186	---	---	---	---	0	0
CAP1	10487	broad.mit.edu	37	1	40535451	40535451	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:40535451delT	ENST00000372797.3	+	9	1459	c.898delT	c.(898-900)ttcfs	p.F300fs	CAP1_ENST00000372805.3_Frame_Shift_Del_p.F300fs|CAP1_ENST00000372798.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372802.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372792.2_Frame_Shift_Del_p.F300fs	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	300					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCCAAACCATTCTCTGCACC	0.527													19	101	---	---	---	---	0	0
FABP2	2169	broad.mit.edu	37	4	120240226	120240226	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr4:120240226delT	ENST00000274024.3	-	4	656	c.369delA	c.(367-369)gtafs	p.V123fs		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	123							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						TTTTGGCTTCTACTCCTTCAT	0.294													14	161	---	---	---	---	0	0
CLCNKB	1188	broad.mit.edu	37	1	16375645	16375646	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:16375645_16375646delCC	ENST00000375679.4	+	8	797_798	c.686_687delCC	c.(685-687)tccfs	p.S229fs	CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GTCATGTCTTCCCACTTCTCTG	0.634													23	131	---	---	---	---	0	0
CLUH	23277	broad.mit.edu	37	17	2606635	2606635	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr17:2606635delC	ENST00000570628.2	-	3	443	c.338delG	c.(337-339)ggcfs	p.G113fs	CLUH_ENST00000538975.1_Frame_Shift_Del_p.G113fs|CLUH_ENST00000435359.1_Frame_Shift_Del_p.G113fs					clustered mitochondria (cluA/CLU1) homolog																		CAGCACAGAGCCCTCCTGCAG	0.667													7	11	---	---	---	---	0	0
SSMEM1	136263	broad.mit.edu	37	7	129856199	129856221	+	Frame_Shift_Del	DEL	ATGGTTGGCGCACCATTCCCGAC	ATGGTTGGCGCACCATTCCCGAC	-	rs140752649	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:129856199_129856221delATGGTTGGCGCACCATTCCCGAC	ENST00000297819.3	+	3	675_697	c.624_646delATGGTTGGCGCACCATTCCCGAC	c.(622-648)gaatggttggcgcaccattcccgacagfs	p.WLAHHSRQ209fs		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1									p.R215R(1)									GAACCAACGAATGGTTGGCGCACCATTCCCGACAGAAGCCTTC	0.426													7	208	---	---	---	---	0	0
DDX47	51202	broad.mit.edu	37	12	12980209	12980226	+	In_Frame_Del	DEL	AACACTTAATTGGGAAGA	AACACTTAATTGGGAAGA	-			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr12:12980209_12980226delAACACTTAATTGGGAAGA	ENST00000358007.3	+	11	1158_1175	c.1136_1153delAACACTTAATTGGGAAGA	c.(1135-1155)gaacacttaattgggaagaaa>gaa	p.HLIGKK380del	DDX47_ENST00000352940.4_In_Frame_Del_p.HLIGKK331del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	380	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CAGCGCATAGAACACTTAATTGGGAAGAAACTACCAGG	0.454													11	72	---	---	---	---	0	0
SMARCA1	6594	broad.mit.edu	37	X	128638774	128638774	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chrX:128638774delA	ENST00000371122.4	-	9	1233	c.1104delT	c.(1102-1104)tttfs	p.F368fs	SMARCA1_ENST00000371121.3_Frame_Shift_Del_p.F368fs|SMARCA1_ENST00000371123.1_Frame_Shift_Del_p.F368fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	368					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACCAAGAATCAAAGTCCTGTA	0.343													44	46	---	---	---	---	0	0
TRPM4	54795	broad.mit.edu	37	19	49713988	49713988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:49713988delC	ENST00000252826.5	+	22	3476	c.3350delC	c.(3349-3351)gccfs	p.A1117fs	TRPM4_ENST00000355712.5_Frame_Shift_Del_p.A763fs|TRPM4_ENST00000427978.2_Frame_Shift_Del_p.A972fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1117	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCTAAGGAAGCCGAGCGGAAG	0.622													23	41	---	---	---	---	0	0
GBA3	57733	broad.mit.edu	37	4	22729298	22729299	+	RNA	INS	-	-	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:22729298_22729299insT	ENST00000511446.2	+	0	62				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTTCTTTCACATTTTCAAATGA	0.421													58	119	---	---	---	---	0	0
MAPRE1	22919	broad.mit.edu	37	20	31421540	31421540	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr20:31421540delT	ENST00000375571.5	+	3	278	c.139delT	c.(139-141)tttfs	p.F47fs		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	47	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GTATTGTCAGTTTATGGACAT	0.413													27	48	---	---	---	---	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83411191	83411194	+	Frame_Shift_Del	DEL	TCCT	TCCT	-			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:83411191_83411194delTCCT	ENST00000262752.2	-	3	154_157	c.147_150delAGGA	c.(145-150)gaaggafs	p.EG49fs	RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.EG49fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	49					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTTAACAACTCCTTCATCCTGTA	0.358													4	8	---	---	---	---	0	0
ALG14	199857	broad.mit.edu	37	1	95538385	95538385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:95538385delC	ENST00000370205.5	-	1	116	c.70delG	c.(70-72)gtafs	p.V25fs	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit						dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		CGAAGCACTACCCATATTCGC	0.577													9	146	---	---	---	---	0	0
UTP15	84135	broad.mit.edu	37	5	72866487	72866502	+	Frame_Shift_Del	DEL	AGTGGAGAGTGTCCTA	AGTGGAGAGTGTCCTA	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:72866487_72866502delAGTGGAGAGTGTCCTA	ENST00000296792.4	+	6	879_894	c.624_639delAGTGGAGAGTGTCCTA	c.(622-639)ccagtggagagtgtcctafs	p.PVESVL208fs	UTP15_ENST00000508491.1_Frame_Shift_Del_p.PVESVL189fs|UTP15_ENST00000543251.1_Frame_Shift_Del_p.PVESVL18fs	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	208					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		ATGGGCAGCCAGTGGAGAGTGTCCTACTTTTCCCCT	0.398													9	162	---	---	---	---	0	0
SEMA6A	57556	broad.mit.edu	37	5	115813744	115813744	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:115813744delG	ENST00000343348.6	-	14	2321	c.1534delC	c.(1534-1536)cttfs	p.L512fs	SEMA6A_ENST00000257414.8_Frame_Shift_Del_p.L512fs|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Del_p.L44fs|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Del_p.L512fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	512	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CACCGGCCAAGGGGAACCTTT	0.463													31	125	---	---	---	---	0	0
DMXL1	1657	broad.mit.edu	37	5	118507503	118507504	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:118507503_118507504insT	ENST00000311085.8	+	25	6600_6601	c.6520_6521insT	c.(6520-6522)ctgfs	p.L2174fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.L2174fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2174										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCTAGCCCTCTGTCAGAGCAA	0.381													52	170	---	---	---	---	0	0
ZDHHC14	79683	broad.mit.edu	37	6	157803172	157803172	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:157803172delG	ENST00000359775.5	+	1	1008	c.119delG	c.(118-120)tggfs	p.W40fs	ZDHHC14_ENST00000414563.2_Frame_Shift_Del_p.W40fs			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	40						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGGAGGAAATGGGAGGTGTTC	0.587													7	12	---	---	---	---	0	0
SYPL1	0	broad.mit.edu	37	7	105739618	105739619	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:105739618_105739619insT	ENST00000455385.2	-	2	301_302	c.179_180insA	c.(178-180)tttfs	p.F60fs	SYPL1_ENST00000470347.1_Frame_Shift_Ins_p.F60fs|SYPL1_ENST00000011473.2_Frame_Shift_Ins_p.F78fs	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	78	MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						ATGGATAACCAAAAGTAGCTGT	0.351													13	82	---	---	---	---	0	0
RBMS2	5939	broad.mit.edu	37	12	56915827	56915827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:56915827delC	ENST00000262031.5	+	1	115	c.20delC	c.(19-21)tccfs	p.S7fs	RBMS2_ENST00000552247.2_Frame_Shift_Del_p.S7fs|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000542360.1_5'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	7					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TCCGTGACTTCCAGGCCCGGG	0.478													28	56	---	---	---	---	0	0
PTPRD	5789	broad.mit.edu	37	9	8484295	8484295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:8484295delT	ENST00000381196.4	-	27	3780	c.3237delA	c.(3235-3237)aaafs	p.K1079fs	PTPRD_ENST00000356435.5_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.K1066fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.K1057fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.K1079fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1079	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGAATATGATTTCTCAGGCT	0.448										TSP Lung(15;0.13)			2	4	---	---	---	---	0	0
FAM186B	84070	broad.mit.edu	37	12	49994194	49994203	+	Frame_Shift_Del	DEL	GTGTCCTTGC	GTGTCCTTGC	-			TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr12:49994194_49994203delGTGTCCTTGC	ENST00000544141.1	-	4	1549_1558	c.950_959delGCAAGGACAC	c.(949-960)agcaaggacactfs	p.SKDT317fs	FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000257894.2_Frame_Shift_Del_p.SKDT407fs			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	407						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGGCTCTCAGTGTCCTTGCTGCCGAACAC	0.538													21	85	---	---	---	---	0	0
SCNN1B	0	broad.mit.edu	37	16	23379203	23379205	+	In_Frame_Del	DEL	ACT	ACT	-	rs138004955		TCGA-HC-A76W-01A-11D-A33T-08	TCGA-HC-A76W-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de77175f-808b-4fb9-9413-5e99254a9325	0f5b9970-388e-406b-ba7a-bad4b7724b53	g.chr16:23379203_23379205delACT	ENST00000343070.2	+	5	979_981	c.803_805delACT	c.(802-807)cactat>cat	p.Y269del	SCNN1B_ENST00000568085.1_In_Frame_Del_p.Y269del|SCNN1B_ENST00000568923.1_In_Frame_Del_p.Y242del|SCNN1B_ENST00000307331.5_In_Frame_Del_p.Y314del	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	269					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTCTACCCTCACTATGGCAACTG	0.537													36	133	---	---	---	---	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205618	100205618	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr7:100205618delA	ENST00000223061.5	+	9	1522	c.1242delA	c.(1240-1242)ccafs	p.P414fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	414	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCCTTCCTCCAGAGAGCTTTG	0.567													30	49	---	---	---	---	0	0
FMR1NB	158521	broad.mit.edu	37	X	147084823	147084824	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chrX:147084823_147084824insT	ENST00000370467.3	+	2	454_455	c.380_381insT	c.(379-384)aattttfs	p.NF127fs		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	127	P-type.					integral to membrane		p.F130fs*17(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTTGCTGAATTTTTTCTTTC	0.371													8	53	---	---	---	---	0	0
GATA6	2627	broad.mit.edu	37	18	19751408	19751408	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr18:19751408delC	ENST00000269216.3	+	2	580	c.303delC	c.(301-303)ggcfs	p.G101fs	GATA6_ENST00000581694.1_Frame_Shift_Del_p.G101fs	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	101					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGGTCGCGGGCCCCGGGGGCA	0.726													2	4	---	---	---	---	0	0
KMT2D	8085	broad.mit.edu	37	12	49437439	49437440	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr12:49437439_49437440insA	ENST00000301067.7	-	23	5444_5445	c.5445_5446insT	c.(5443-5448)aaggaafs	p.E1816fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTGGGGAGTTCCTTCCTTTCTG	0.525											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	45	---	---	---	---	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349914	89349916	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr16:89349914_89349916delCTT	ENST00000301030.4	-	9	3494_3496	c.3034_3036delAAG	c.(3034-3036)aagdel	p.K1012del	ANKRD11_ENST00000378330.2_In_Frame_Del_p.K1012del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1012	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGGGCCATCCTTCTTCTCCTTC	0.512													27	94	---	---	---	---	0	0
HELQ	113510	broad.mit.edu	37	4	84375053	84375060	+	Frame_Shift_Del	DEL	TAAAGCTA	TAAAGCTA	-			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr4:84375053_84375060delTAAAGCTA	ENST00000295488.3	-	2	498_505	c.336_343delTAGCTTTA	c.(334-345)gatagctttactfs	p.SFT113fs	HELQ_ENST00000510985.1_Frame_Shift_Del_p.SFT113fs|HELQ_ENST00000440639.2_5'UTR	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	113							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GAGTTTTCAGTAAAGCTATCATAGTCAC	0.375								Other identified genes with known or suspected DNA repair function					27	135	---	---	---	---	0	0
NAV3	89795	broad.mit.edu	37	12	78593154	78593155	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr12:78593154_78593155insT	ENST00000397909.2	+	37	6731_6732	c.6558_6559insT	c.(6559-6561)tttfs	p.F2187fs	NAV3_ENST00000536525.2_Frame_Shift_Ins_p.F2165fs|NAV3_ENST00000541270.1_Frame_Shift_Ins_p.F17fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.F2165fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.F1988fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2187						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTGAAAGGCTTTTTAGGCAG	0.302										HNSCC(70;0.22)			8	92	---	---	---	---	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100222192	100222193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr5:100222192_100222193insG	ENST00000231461.5	-	3	667_668	c.357_358insC	c.(355-360)aacattfs	p.I120fs	ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Frame_Shift_Ins_p.I120fs	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	120					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCATGAGAAATGTTTAGTGTCC	0.436													29	130	---	---	---	---	0	0
USP28	57646	broad.mit.edu	37	11	113683078	113683079	+	In_Frame_Ins	INS	-	-	GAA	rs142728209		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr11:113683078_113683079insGAA	ENST00000003302.4	-	16	1959_1960	c.1891_1892insTTC	c.(1891-1893)aga>aTTCga	p.630_631insI	USP28_ENST00000260188.5_In_Frame_Ins_p.630_631insI|USP28_ENST00000544967.1_In_Frame_Ins_p.338_339insI|USP28_ENST00000545540.1_In_Frame_Ins_p.505_506insI	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	630					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATAGGAATCTCTTTCAACTTCT	0.416													7	100	---	---	---	---	0	0
ROBO1	6091	broad.mit.edu	37	3	78666863	78666863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr3:78666863delC	ENST00000436010.2	-	25	5084	c.4087delG	c.(4087-4089)gacfs	p.D1363fs	ROBO1_ENST00000467549.1_Frame_Shift_Del_p.D1302fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.D1357fs|ROBO1_ENST00000464233.1_Frame_Shift_Del_p.D1402fs			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1402					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGGCAAAGTCAGCATCAGTG	0.552													9	41	---	---	---	---	0	0
CFL1	1072	broad.mit.edu	37	11	65623504	65623504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr11:65623504delA	ENST00000525451.2	-	3	928	c.213delT	c.(211-213)tttfs	p.F71fs	CFL1_ENST00000531407.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000308162.5_Frame_Shift_Del_p.F71fs|CFL1_ENST00000524553.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000527344.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000531413.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000534769.1_Frame_Shift_Del_p.F109fs			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	71	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		GCATCTTGACAAAGGTGGCGT	0.537													16	121	---	---	---	---	0	0
EXOSC10	5394	broad.mit.edu	37	1	11155880	11155881	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:11155880_11155881insT	ENST00000544779.1	-	3	311_312	c.306_307insA	c.(304-309)aaagtgfs	p.V103fs	EXOSC10_ENST00000376936.4_Frame_Shift_Ins_p.V103fs|EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.V103fs			Q01780	EXOSX_HUMAN	exosome component 10	103					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AGCTCAGTCACTTTACTTCGAT	0.381													74	127	---	---	---	---	0	0
OR4P4	81300	broad.mit.edu	37	11	55405837	55405838	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:55405837_55405838insA	ENST00000314612.2	+	1	4_5	c.4_5insA	c.(4-6)gaafs	p.E2fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CTGGACCATGGAAAAAAGCAAT	0.302													61	28	---	---	---	---	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407722	148407722	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J4-A83K-01A-11D-A34U-08	TCGA-J4-A83K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d93fb9-005b-4fc2-9c1d-409da6817ba8	03fd3a9c-8dae-4e30-9439-2c509bcaae9c	g.chr5:148407722delA	ENST00000538184.1	-	7	1102	c.214delT	c.(214-216)tggfs	p.W72fs	SH3TC2_ENST00000394358.2_Frame_Shift_Del_p.W410fs|SH3TC2_ENST00000512049.1_Frame_Shift_Del_p.W518fs|SH3TC2_ENST00000515425.1_Frame_Shift_Del_p.W525fs			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	525							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGGGCCCAGGTCATGTGG	0.547													55	86	---	---	---	---	0	0
CCT6P3	0	broad.mit.edu	37	7	64498862	64498862	+	RNA	DEL	G	G	-			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:64498862delG	ENST00000426828.1	+	0	125					NR_033416.1																						CATGTGGAGAGGCAGAAGGAG	0.687													2	4	---	---	---	---	0	0
NPDC1	56654	broad.mit.edu	37	9	139935547	139935547	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr9:139935547delG	ENST00000371600.3	-	2	1258	c.586delC	c.(586-588)ctafs	p.L196fs	NPDC1_ENST00000371601.4_Frame_Shift_Del_p.L118fs|NPDC1_ENST00000488145.1_5'UTR			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	118						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TCCTTGGGTAGGGGCGGAGTT	0.672													2	4	---	---	---	---	0	0
CCDC73	493860	broad.mit.edu	37	11	32697164	32697164	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr11:32697164delT	ENST00000335185.5	-	9	635	c.592delA	c.(592-594)agafs	p.R198fs	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	198										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GCTGAAAGTCTTTTGTTTGAT	0.259													24	44	---	---	---	---	0	0
ANKRD37	353322	broad.mit.edu	37	4	186318457	186318458	+	Splice_Site	INS	-	-	T			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr4:186318457_186318458insT	ENST00000335174.4	+	2	620		c.e2+1		ANKRD37_ENST00000507479.1_Splice_Site	NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37							cytoplasm|nucleus				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		CAACCAGCAGGTAACTAGGTAA	0.535													14	44	---	---	---	---	0	0
PLIN3	10226	broad.mit.edu	37	19	4852140	4852141	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr19:4852140_4852141delTT	ENST00000221957.4	-	5	697_698	c.521_522delAA	c.(520-522)caafs	p.Q174fs	PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q162fs|PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q174fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	174					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCATGACCGATTGGACGCCGCC	0.663											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	45	---	---	---	---	0	0
ATF4	468	broad.mit.edu	37	22	39917951	39917951	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr22:39917951delC	ENST00000337304.2	+	2	1282	c.400delC	c.(400-402)cccfs	p.P135fs	ATF4_ENST00000404241.2_Frame_Shift_Del_p.P135fs|ATF4_ENST00000396680.1_Frame_Shift_Del_p.P135fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	135					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					TAATAAGCAGCCCCCCCAGAC	0.527													80	264	---	---	---	---	0	0
LIMCH1	22998	broad.mit.edu	37	4	41682030	41682030	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr4:41682030delA	ENST00000313860.7	+	19	2429	c.2375delA	c.(2374-2376)tacfs	p.Y792fs	LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.Y792fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.Y637fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.Y715fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.Y645fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.Y804fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.Y791fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.Y1176fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.Y632fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	792	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CAGGAGAGATACCAGAAGGAG	0.448													2	4	---	---	---	---	0	0
CREB3L2	64764	broad.mit.edu	37	7	137569752	137569752	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr7:137569752delG	ENST00000330387.6	-	10	1610	c.1259delC	c.(1258-1260)acafs	p.T420fs	CREB3L2_ENST00000456390.1_Frame_Shift_Del_p.T420fs	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	420					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CACGGAGGCTGTGTAGGGCTC	0.532			T	FUS	fibromyxoid sarcoma								16	71	---	---	---	---	0	0
ZNF408	79797	broad.mit.edu	37	11	46727386	46727386	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A8CK-01A-11D-A34U-08	TCGA-J9-A8CK-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc4c0fab-2cb2-4203-a0ed-c5fef2446f5e	aca8551c-6477-4cd2-a7d0-72b093c56a69	g.chr11:46727386delG	ENST00000311764.2	+	5	2366	c.2136delG	c.(2134-2136)gagfs	p.E712fs		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTGGGCAGAGGTGGTGGAGG	0.572													2	4	---	---	---	---	0	0
BRCA2	675	broad.mit.edu	37	13	32911237	32911237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr13:32911237delT	ENST00000544455.1	+	11	2972	c.2745delT	c.(2743-2745)actfs	p.T915fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.T915fs	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	915	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGACTTGACTTGTGTAAACG	0.333			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			17	34	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38061202	38061208	+	Frame_Shift_Del	DEL	GGCGGCG	GGCGGCG	-			TCGA-J9-A8CP-01A-11D-A34U-08	TCGA-J9-A8CP-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6fc7ff0-f510-4b66-b422-4e9a5c0552d6	38604397-3014-4f48-9b92-dbdb45f28a33	g.chr14:38061202_38061208delGGCGGCG	ENST00000250448.2	-	2	842_848	c.781_787delCGCCGCC	c.(781-789)cgccgccagfs	p.RRQ261fs	FOXA1_ENST00000540786.1_Frame_Shift_Del_p.RRQ228fs|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	261					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGCGCTTCTGGCGGCGCAAGTAGCAG	0.71													8	27	---	---	---	---	0	0
MGA	23269	broad.mit.edu	37	15	42041985	42041986	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr15:42041985_42041986delAG	ENST00000219905.7	+	17	6361_6362	c.6180_6181delAG	c.(6178-6183)caagatfs	p.D2061fs	MGA_ENST00000566586.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.D2022fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000570161.1_Frame_Shift_Del_p.D2061fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2022						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATACAGATCAAGATTATAAAGA	0.406													22	204	---	---	---	---	0	0
TUBB8	347688	broad.mit.edu	37	10	93834	93835	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr10:93834_93835delTG	ENST00000447903.2	-	4	596_597	c.281_282delCA	c.(280-282)acafs	p.T94fs	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Frame_Shift_Del_p.T166fs|TUBB8_ENST00000332708.5_3'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	166					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGATGCTGAATGTGTTTATGAT	0.584													8	199	---	---	---	---	0	0
UBQLN4	56893	broad.mit.edu	37	1	156011291	156011292	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:156011291_156011292insA	ENST00000368309.3	-	10	1729_1730	c.1637_1638insT	c.(1636-1638)ggafs	p.G546fs		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	546						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					AGTTTCCACTTCCAGCCAAAAG	0.569													12	29	---	---	---	---	0	0
PTEN	5728	broad.mit.edu	37	10	89711886	89711887	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:89711886_89711887insC	ENST00000371953.3	+	6	1861_1862	c.504_505insC	c.(505-507)cccfs	p.P169fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	169	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.I168fs*15(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAGTAACTATTCCCAGTCAGAG	0.361		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			13	20	---	---	---	---	0	0
OASL	8638	broad.mit.edu	37	12	121476763	121476764	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr12:121476763_121476764insA	ENST00000257570.5	-	1	281_282	c.11_12insT	c.(10-12)atgfs	p.M4fs	OASL_ENST00000339275.5_Frame_Shift_Ins_p.M4fs	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	4					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACAGTTCCTGCATCAGTGCCAT	0.589													11	28	---	---	---	---	0	0
FAM107B	83641	broad.mit.edu	37	10	14563937	14563938	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr10:14563937_14563938insG	ENST00000181796.2	-	4	967_968	c.734_735insC	c.(733-735)gaafs	p.E245fs	FAM107B_ENST00000378467.4_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000478076.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378465.3_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000479731.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378458.2_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378462.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000468747.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000496330.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378470.1_Frame_Shift_Ins_p.E70fs	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	70										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGCTTCTTCTTCCTTCTGCTT	0.426													25	73	---	---	---	---	0	0
ABCA10	10349	broad.mit.edu	37	17	67210954	67210959	+	In_Frame_Del	DEL	AAAAAT	AAAAAT	-			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:67210954_67210959delAAAAAT	ENST00000269081.4	-	10	1801_1806	c.892_897delATTTTT	c.(892-897)atttttdel	p.IF298del	ABCA10_ENST00000416101.2_In_Frame_Del_p.IF298del|ABCA10_ENST00000432313.2_In_Frame_Del_p.IF298del	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	298					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGGGATCAGGAAAAATAACACCACTT	0.267													11	57	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7579402	7579418	+	Frame_Shift_Del	DEL	AGATGACAGGGGCCAGG	AGATGACAGGGGCCAGG	-			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr17:7579402_7579418delAGATGACAGGGGCCAGG	ENST00000420246.2	-	4	401_417	c.269_285delCCTGGCCCCTGTCATCT	c.(268-285)tcctggcccctgtcatctfs	p.SWPLSS90fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.SWPLSS90fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	90	Interaction with WWOX.		S -> F (in sporadic cancers; somatic mutation).|S -> Y (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W91*(20)|p.0?(8)|p.L93fs*30(5)|p.A88fs*32(3)|p.S95F(3)|p.A76_S90del15(3)|p.S94*(3)|p.G59fs*23(3)|p.S94T(2)|p.S94fs*29(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.S96fs*53(1)|p.P92fs*57(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGG	0.631		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	31	---	---	---	---	0	0
RSPH3	83861	broad.mit.edu	37	6	159420666	159420667	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr6:159420666_159420667insT	ENST00000252655.1	-	1	531_532	c.342_343insA	c.(340-345)ttacatfs	p.H115fs	RSPH3_ENST00000297262.3_Frame_Shift_Ins_p.H115fs|RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_5'UTR	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	115										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CCGGAGAGATGTAAGTAGTGCC	0.634													33	56	---	---	---	---	0	0
KMT2D	8085	broad.mit.edu	37	12	49431090	49431105	+	Frame_Shift_Del	DEL	ACCATAGCCATGGATG	ACCATAGCCATGGATG	-	rs80149580	by1000genomes	TCGA-KC-A7FA-01A-21D-A33T-08	TCGA-KC-A7FA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b63f37c1-b80c-44ba-9d98-1e621ee926d9	a792ba94-7862-4a44-9d3f-fbc56914f409	g.chr12:49431090_49431105delACCATAGCCATGGATG	ENST00000301067.7	-	34	10033_10048	c.10034_10049delCATCCATGGCTATGGT	c.(10033-10050)ccatccatggctatggtgfs	p.PSMAMV3345fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.M3079T(1)									TTGATTGGACACCATAGCCATGGATGGAGCCAGGCG	0.616													9	17	---	---	---	---	0	0
BTG1	694	broad.mit.edu	37	12	92537884	92537884	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr12:92537884delT	ENST00000256015.3	-	2	849	c.488delA	c.(487-489)aacfs	p.N163fs		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	163					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CATATTGTAGTTTTTGGAAGG	0.443			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	69	---	---	---	---	0	0
USP24	23358	broad.mit.edu	37	1	55538531	55538532	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:55538531_55538532delAC	ENST00000294383.6	-	65	7528_7529	c.7529_7530delGT	c.(7528-7530)tgtfs	p.C2510fs	USP24_ENST00000484447.1_5'UTR|USP24_ENST00000407756.1_Frame_Shift_Del_p.C2350fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2510					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TAGCTGCAGGACACCTGATGAC	0.406													7	20	---	---	---	---	0	0
IL6ST	3572	broad.mit.edu	37	5	55259975	55259975	+	Splice_Site	DEL	T	T	-			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:55259975delT	ENST00000381298.2	-	6	969	c.657delA	c.(655-657)aaa>aa	p.K219fs	IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Splice_Site_p.K219fs|IL6ST_ENST00000381294.3_Splice_Site_p.K219fs|IL6ST_ENST00000522633.2_Splice_Site_p.K219fs|IL6ST_ENST00000336909.5_Splice_Site_p.K219fs|IL6ST_ENST00000381287.4_Splice_Site_p.K219fs|IL6ST_ENST00000536319.1_Splice_Site_p.K219fs|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	219					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TATAACTACCTTTATATACAG	0.294			O		hepatocellular ca								9	23	---	---	---	---	0	0
IRF4	3662	broad.mit.edu	37	6	397192	397193	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:397192_397193insAA	ENST00000380956.4	+	5	703_704	c.577_578insAA	c.(577-579)caafs	p.Q193fs	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	193					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AATCCCGTACCAATGTCCCATG	0.554			T	IGH@	MM								119	161	---	---	---	---	0	0
VLDLR	7436	broad.mit.edu	37	9	2643660	2643661	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr9:2643660_2643661delTG	ENST00000382100.3	+	6	1209_1210	c.853_854delTG	c.(853-855)tgtfs	p.C285fs	VLDLR_ENST00000382099.2_Frame_Shift_Del_p.C285fs	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor		LDL-receptor class A 7.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CCAATTTGAATGTGAGGATGGC	0.485													40	43	---	---	---	---	0	0
CHD6	0	broad.mit.edu	37	20	40141606	40141607	+	In_Frame_Ins	INS	-	-	GCTTTA			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr20:40141606_40141607insGCTTTA	ENST00000373233.3	-	5	907_908	c.730_731insTAAAGC	c.(730-732)cgc>cTAAAGCgc	p.243_244insLK	CHD6_ENST00000309279.7_In_Frame_Ins_p.243_244insLK|CHD6_ENST00000373222.3_In_Frame_Ins_p.278_279insLK	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	243					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTATTTTCTGCGCTTTACTTGC	0.49													57	243	---	---	---	---	0	0
ADAM28	10863	broad.mit.edu	37	8	24157535	24157558	+	In_Frame_Del	DEL	ATCCTATAAGACTTCATCCACTGC	ATCCTATAAGACTTCATCCACTGC	-			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:24157535_24157558delATCCTATAAGACTTCATCCACTGC	ENST00000265769.4	+	2	205_228	c.95_118delATCCTATAAGACTTCATCCACTGC	c.(94-120)tatcctataagacttcatccactgcat>tat	p.PIRLHPLH33del	ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_In_Frame_Del_p.PIRLHPLH33del|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	33					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.R35I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAAGTGGTTTATCCTATAAGACTTCATCCACTGCATAAAAGAGA	0.362													7	53	---	---	---	---	0	0
SACS	26278	broad.mit.edu	37	13	23914964	23914967	+	Frame_Shift_Del	DEL	AAGG	AAGG	-			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:23914964_23914967delAAGG	ENST00000382298.3	-	10	3636_3639	c.3048_3051delCCTT	c.(3046-3051)gtccttfs	p.VL1016fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.VL266fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.VL1016fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1016					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAGATTCTCAAGGACCCATAACA	0.343													35	73	---	---	---	---	0	0
NRXN1	9378	broad.mit.edu	37	2	50765580	50765580	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr2:50765580delG	ENST00000404971.1	-	11	3413	c.2074delC	c.(2074-2076)caafs	p.Q692fs	NRXN1_ENST00000406316.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.Q644fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507													32	338	---	---	---	---	0	0
C3orf72	401089	broad.mit.edu	37	3	138669318	138669323	+	In_Frame_Del	DEL	TGAGCG	TGAGCG	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr3:138669318_138669323delTGAGCG	ENST00000383165.3	+	3	563_568	c.432_437delTGAGCG	c.(430-438)cctgagcgg>ccg	p.ER147del		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	147										large_intestine(1)|lung(3)	4						TTCCCGCTCCTGAGCGGGAGAGAATA	0.626													17	40	---	---	---	---	0	0
IFT81	28981	broad.mit.edu	37	12	110630424	110630424	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:110630424delG	ENST00000242591.5	+	14	1976	c.1470delG	c.(1468-1470)gtgfs	p.V490fs	IFT81_ENST00000552912.1_Frame_Shift_Del_p.V490fs	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	490					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		p.L493fs*7(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AATAACAGGTGAAAAAACTGT	0.279													12	25	---	---	---	---	0	0
MIS12	79003	broad.mit.edu	37	17	5392653	5392653	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:5392653delT	ENST00000381165.3	+	3	1024	c.471delT	c.(469-471)actfs	p.T157fs	MIS12_ENST00000573759.1_Frame_Shift_Del_p.T157fs	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	157					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AGACGTTGACTTTCTTTGATG	0.398													79	156	---	---	---	---	0	0
BCL2L13	23786	broad.mit.edu	37	22	18178954	18178954	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:18178954delT	ENST00000317582.5	+	5	781	c.434delT	c.(433-435)gttfs	p.V145fs	BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000399782.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000493680.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000538149.1_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	145					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GAGACCACAGTTCATGCCAGC	0.378													8	38	---	---	---	---	0	0
UNK	85451	broad.mit.edu	37	17	73780852	73780852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:73780852delG	ENST00000293218.3	+	2	119	c.119delG	c.(118-120)tggfs	p.W40fs	H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGCCGTGTGGGGGGTCTTC	0.617													7	28	---	---	---	---	0	0
KCNQ5	56479	broad.mit.edu	37	6	73830210	73830210	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:73830210delT	ENST00000342056.2	+	8	1528	c.1130delT	c.(1129-1131)gttfs	p.V377fs	KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370398.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.V377fs	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	377					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATGCAGTGTGTTTGGCGTAGT	0.413													8	26	---	---	---	---	0	0
RBBP5	5929	broad.mit.edu	37	1	205068139	205068144	+	In_Frame_Del	DEL	ATCTTC	ATCTTC	-			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:205068139_205068144delATCTTC	ENST00000264515.6	-	10	1210_1215	c.1069_1074delGAAGAT	c.(1069-1074)gaagatdel	p.ED357del	RBBP5_ENST00000367164.1_In_Frame_Del_p.ED357del	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	357					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GCTCACTCTTATCTTCATCTTCAATA	0.35													13	62	---	---	---	---	0	0
C14orf79	122616	broad.mit.edu	37	14	105461072	105461072	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr14:105461072delA	ENST00000549240.1	+	3	2036	c.228delA	c.(226-228)acafs	p.T76fs	C14orf79_ENST00000549584.1_Intron|C14orf79_ENST00000550614.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000547315.1_Frame_Shift_Del_p.T318fs			Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	318										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCAAACTGACACTCTTTAATA	0.473													35	48	---	---	---	---	0	0
MYLK3	91807	broad.mit.edu	37	16	46772020	46772020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chr16:46772020delC	ENST00000394809.4	-	3	719	c.604delG	c.(604-606)gagfs	p.E202fs	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	202					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCAGCCTCTCCGCTGTCCCC	0.637													9	16	---	---	---	---	0	0
ZMYM3	9203	broad.mit.edu	37	X	70470452	70470480	+	Frame_Shift_Del	DEL	CCCGGCCCTTTGTGACACACTTGAGCGTA	CCCGGCCCTTTGTGACACACTTGAGCGTA	-			TCGA-KK-A7AP-01A-12D-A33T-08	TCGA-KK-A7AP-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c45a477-5a37-40de-a023-e282662b95d5	a1af817f-0d34-41c4-95e5-d61b174e3c6a	g.chrX:70470452_70470480delCCCGGCCCTTTGTGACACACTTGAGCGTA	ENST00000373998.1	-	5	1572_1600	c.875_903delTACGCTCAAGTGTGTCACAAAGGGCCGGG	c.(874-903)ctacgctcaagtgtgtcacaaagggccgggfs	p.LRSSVSQRAG292fs	ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.LRSSVSQRAG294fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	292					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCAGAGCGCCCGGCCCTTTGTGACACACTTGAGCGTAGGGACATGCG	0.581													2	4	---	---	---	---	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32712958	32712958	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr6:32712958delT	ENST00000374940.3	+	2	207	c.105delT	c.(103-105)ggtfs	p.G35fs		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	35	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTCCTATGGTGTGAACTTCT	0.488													7	210	---	---	---	---	0	0
BMPR1B	658	broad.mit.edu	37	4	96046274	96046275	+	Splice_Site	INS	-	-	A			TCGA-KK-A7B1-01A-11D-A32B-08	TCGA-KK-A7B1-11A-12D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866d486-7422-4b92-89e2-f77933384d64	d47e6a60-b436-4ee5-b201-819ac01c600b	g.chr4:96046274_96046275insA	ENST00000515059.1	+	8	868		c.e8+2		BMPR1B_ENST00000440890.2_Splice_Site|BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB						BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CCTCTGCTGGTATGAGAAGAAC	0.421													11	36	---	---	---	---	0	0
NTRK1	4914	broad.mit.edu	37	1	156849931	156849936	+	In_Frame_Del	DEL	CCAGCT	CCAGCT	-			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr1:156849931_156849936delCCAGCT	ENST00000368196.3	+	15	2289_2294	c.2169_2174delCCAGCT	c.(2167-2175)taccagctc>tac	p.QL724del	NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000524377.1_In_Frame_Del_p.QL730del|NTRK1_ENST00000392302.2_In_Frame_Del_p.QL694del|NTRK1_ENST00000358660.3_In_Frame_Del_p.QL727del	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	730	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AGCCCTGGTACCAGCTCTCCAACACG	0.621			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			14	82	---	---	---	---	0	0
MBD1	4152	broad.mit.edu	37	18	47806261	47806262	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-KK-A7B3-01A-11D-A33T-08	TCGA-KK-A7B3-11A-21D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22aff19c-f5e8-4648-b758-b92784cd8cdf	3b8bec14-e3b8-4447-a11a-96144843d4c1	g.chr18:47806261_47806262delAT	ENST00000591416.1	-	2	532_533	c.101_102delAT	c.(100-102)tatfs	p.Y35fs	MBD1_ENST00000398495.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.Y61fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.Y35fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	35	MBD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						ACCTCTGGTAATAGGTGTCTGA	0.554													26	32	---	---	---	---	0	0
LMTK2	22853	broad.mit.edu	37	7	97788717	97788720	+	Frame_Shift_Del	DEL	GTGT	GTGT	-			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr7:97788717_97788720delGTGT	ENST00000297293.5	+	6	930_933	c.637_640delGTGT	c.(637-642)gtgtttfs	p.VF213fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	213	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTACCTCCTGGTGTTTGAGTTCTG	0.412													31	121	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7579315	7579316	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr17:7579315_7579316insC	ENST00000420246.2	-	4	503_504	c.371_372insG	c.(370-372)tgcfs	p.C124fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	124	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AACTGACCGTGCAAGTCACAGA	0.545		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	29	---	---	---	---	0	0
IFNB1	3456	broad.mit.edu	37	9	21077860	21077860	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr9:21077860delG	ENST00000380232.2	-	1	83	c.9delC	c.(7-9)aacfs	p.N3fs		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	3					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	GGAGACACTTGTTGGTCATGT	0.458													7	32	---	---	---	---	0	0
HSPA5	3309	broad.mit.edu	37	9	128003114	128003115	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr9:128003114_128003115delAT	ENST00000324460.6	-	2	397_398	c.194_195delAT	c.(193-195)tatfs	p.Y65fs		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	65					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TGAAGGCGACATAGGACGGCGT	0.599										Prostate(1;0.17)			26	60	---	---	---	---	0	0
MYOF	26509	broad.mit.edu	37	10	95072931	95072931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr10:95072931delG	ENST00000371501.4	-	51	5857	c.5735delC	c.(5734-5736)cctfs	p.P1912fs	MYOF_ENST00000371502.4_Frame_Shift_Del_p.P1902fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.P1899fs|MYOF_ENST00000359263.4_Frame_Shift_Del_p.P1912fs			Q9NZM1	MYOF_HUMAN	myoferlin	1912					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGATTTTGCAGGAATGATCGT	0.468													71	63	---	---	---	---	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110475354	110475354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A8I5-01A-11D-A364-08	TCGA-KK-A8I5-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b87ca7d-24d1-4192-8562-96b302bb907f	f4eca61d-ecdb-483b-bfe1-b1dfd5db648b	g.chr12:110475354delA	ENST00000261739.4	+	15	1934	c.1768delA	c.(1768-1770)aaafs	p.K590fs	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	590										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						ACTCACTGACAAATAGACCTT	0.572													11	12	---	---	---	---	0	0
EIF4G1	1981	broad.mit.edu	37	3	184046495	184046496	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr3:184046495_184046496insT	ENST00000342981.4	+	26	4447_4448	c.4033_4034insT	c.(4033-4035)gtafs	p.V1345fs	EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.V1344fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.V1258fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.V1304fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.V1180fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.V1149fs|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.V1351fs|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.V1344fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.V1181fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.V1148fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.V1257fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.V1305fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.V1351fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.V1351fs	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1344	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCGGAACTGGTAACACCCATT	0.53													45	69	---	---	---	---	0	0
KAT6B	23522	broad.mit.edu	37	10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-KK-A8IA-01A-11D-A364-08	TCGA-KK-A8IA-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4302b78b-6ed4-42e0-b730-520da1966483	48663fd9-664b-4ba1-a992-df8b0bc460e8	g.chr10:76784946_76784949delACAA	ENST00000287239.4	+	17	4092_4095	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.RQ1201fs	KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1201					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GGAAGAAAAGACAAACAGAGGAAG	0.451													14	23	---	---	---	---	0	0
TRIP12	9320	broad.mit.edu	37	2	230656648	230656649	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:230656648_230656649delTC	ENST00000283943.5	-	28	4301_4302	c.4123_4124delGA	c.(4123-4125)gaafs	p.E1375fs	TRIP12_ENST00000389045.3_Frame_Shift_Del_p.E1105fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.E1423fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1375					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCTGTGGATTCTCTTTCATCT	0.396													16	98	---	---	---	---	0	0
TMEM184A	202915	broad.mit.edu	37	7	1594921	1594922	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr7:1594921_1594922delAG	ENST00000297477.5	-	2	515_516	c.199_200delCT	c.(199-201)ctgfs	p.L67fs		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	67						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGTGAGCACCAGGGCAGTCCAC	0.688													2	4	---	---	---	---	0	0
KIF1B	23095	broad.mit.edu	37	1	10364565	10364566	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:10364565_10364566insA	ENST00000377093.4	+	21	3475_3476	c.3322_3323insA	c.(3322-3324)cagfs	p.Q1108fs	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.Q1108fs|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACTGGAGGTCAGTTAGAGGGC	0.505													35	29	---	---	---	---	0	0
FMN2	56776	broad.mit.edu	37	1	240256589	240256591	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr1:240256589_240256591delGCC	ENST00000319653.9	+	1	1410_1412	c.1180_1182delGCC	c.(1180-1182)gccdel	p.A395del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	395					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCCCCGCGGCCGCTTCCCTGC	0.719													16	21	---	---	---	---	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68255450	68255453	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr8:68255450_68255453delCTTC	ENST00000262215.3	-	1	459_462	c.70_73delGAAG	c.(70-75)gaagtgfs	p.EV24fs		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	24					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCCTTCTTCACTTCCTTGTCGGCC	0.623													35	44	---	---	---	---	0	0
GAD2	2572	broad.mit.edu	37	10	26581461	26581462	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr10:26581461_26581462insA	ENST00000376261.3	+	14	1957_1958	c.1454_1455insA	c.(1453-1458)ataaaafs	p.IK485fs	GAD2_ENST00000259271.3_Frame_Shift_Ins_p.IK485fs	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	485					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TACAACATCATAAAAAACCGAG	0.396													12	111	---	---	---	---	0	0
CCDC113	29070	broad.mit.edu	37	16	58301442	58301468	+	In_Frame_Del	DEL	AAAAGAGCTACTTGAAAAAATTGAAAA	AAAAGAGCTACTTGAAAAAATTGAAAA	-			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr16:58301442_58301468delAAAAGAGCTACTTGAAAAAATTGAAAA	ENST00000219299.4	+	7	922_948	c.843_869delAAAAGAGCTACTTGAAAAAATTGAAAA	c.(841-870)agaaaagagctacttgaaaaaattgaaaaa>aga	p.KELLEKIEK282del	CCDC113_ENST00000443128.2_In_Frame_Del_p.KELLEKIEK228del	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	282						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TCTTGCTGAGAAAAGAGCTACTTGAAAAAATTGAAAAAGAAACACTA	0.396													27	79	---	---	---	---	0	0
CDK12	51755	broad.mit.edu	37	17	37676253	37676254	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr17:37676253_37676254delTA	ENST00000447079.4	+	11	3041_3042	c.3008_3009delTA	c.(3007-3009)ctafs	p.L1003fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.L1003fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1003	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATGCTGACACTAGATCCTAGTA	0.45			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			56	91	---	---	---	---	0	0
CDC27	996	broad.mit.edu	37	17	45234690	45234706	+	Frame_Shift_Del	DEL	CAGTTGCTAAAGTTCTG	CAGTTGCTAAAGTTCTG	-	rs113608268		TCGA-KK-A8ID-01A-11D-A364-08	TCGA-KK-A8ID-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	434c8d21-e732-4485-a382-84e8abf8bdb5	686e0817-587f-49c3-b654-8141a09dd79b	g.chr17:45234690_45234706delCAGTTGCTAAAGTTCTG	ENST00000066544.3	-	6	613_629	c.520_536delCAGAACTTTAGCAACTG	c.(520-537)cagaactttagcaactgtfs	p.QNFSNC174fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.QNFSNC113fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	174					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTTGGGCAGACAGTTGCTAAAGTTCTGTAAAGATGTG	0.387													9	85	---	---	---	---	0	0
TYW3	127253	broad.mit.edu	37	1	75229587	75229589	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr1:75229587_75229589delCTG	ENST00000370867.3	+	6	659_661	c.570_572delCTG	c.(568-573)aactgc>aac	p.C191del	TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000479111.1_In_Frame_Del_p.C71del|TYW3_ENST00000457880.2_In_Frame_Del_p.C158del|TYW3_ENST00000421739.2_In_Frame_Del_p.C107del	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	191					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GGTTTTACAACTGCCTACAGCAT	0.32													24	36	---	---	---	---	0	0
KERA	11081	broad.mit.edu	37	12	91449367	91449367	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr12:91449367delT	ENST00000266719.3	-	2	939	c.692delA	c.(691-693)aatfs	p.N231fs		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	231					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATTAAAATAATTTTCTGGTAT	0.373													7	108	---	---	---	---	0	0
TFAP2C	7022	broad.mit.edu	37	20	55208584	55208594	+	Frame_Shift_Del	DEL	TGAATGCTTAA	TGAATGCTTAA	-			TCGA-KK-A8IF-01A-11D-A364-08	TCGA-KK-A8IF-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0af96576-f308-4fec-bda0-f431f6531409	727485ca-631f-41a3-8f98-7450503b45f0	g.chr20:55208584_55208594delTGAATGCTTAA	ENST00000201031.2	+	4	1005_1015	c.762_772delTGAATGCTTAA	c.(760-774)cctgaatgcttaaatfs	p.ECLN255fs	TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.ECLN86fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	255					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TGTCCCCACCTGAATGCTTAAATGCCTCGTT	0.512													12	62	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38061202	38061203	+	Frame_Shift_Ins	INS	-	-	GCGGC			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:38061202_38061203insGCGGC	ENST00000250448.2	-	2	847_848	c.786_787insGCCGC	c.(784-789)cgccagfs	p.Q263fs	FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.Q230fs|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	263					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGCGCTTCTGGCGGCGCAAGT	0.713													5	8	---	---	---	---	0	0
EVPLL	645027	broad.mit.edu	37	17	18286659	18286659	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr17:18286659delG	ENST00000399134.4	+	8	1105	c.747delG	c.(745-747)gtgfs	p.V249fs	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	249										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCGCATGGTGGAGCTGCGGC	0.711													2	4	---	---	---	---	0	0
CAMKMT	79823	broad.mit.edu	37	2	44599960	44599960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr2:44599960delG	ENST00000378494.3	+	2	288	c.244delG	c.(244-246)gaafs	p.E84fs	CAMKMT_ENST00000402247.1_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000403853.3_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000407131.1_Frame_Shift_Del_p.E84fs	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	84						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						AAGGGAAACTGAAGAGGAGGT	0.373													20	30	---	---	---	---	0	0
BAZ2B	29994	broad.mit.edu	37	2	160285752	160285754	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr2:160285752_160285754delTCT	ENST00000392783.2	-	11	2707_2709	c.2212_2214delAGA	c.(2212-2214)agadel	p.R738del	BAZ2B_ENST00000355831.2_In_Frame_Del_p.R738del|BAZ2B_ENST00000343439.5_In_Frame_Del_p.R638del|BAZ2B_ENST00000392782.1_In_Frame_Del_p.R736del	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATCTGTTACTCTTCTTCTTTTG	0.266													9	35	---	---	---	---	0	0
CYP2W1	54905	broad.mit.edu	37	7	1027017	1027017	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr7:1027017delC	ENST00000340150.6	+	7	847	c.825delC	c.(823-825)ggcfs	p.G275fs	CYP2W1_ENST00000308919.7_Frame_Shift_Del_p.G331fs			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	331					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCGTGCTGGGCCCTGGGCGGA	0.731													2	4	---	---	---	---	0	0
VAPA	9218	broad.mit.edu	37	18	9954142	9954143	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr18:9954142_9954143delTC	ENST00000400000.2	+	6	939_940	c.684_685delTC	c.(682-687)cttcctfs	p.P229fs	VAPA_ENST00000340541.4_Frame_Shift_Del_p.P274fs	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	229					cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						CCAGTCCTCTTCCTTCACTTCT	0.391													11	97	---	---	---	---	0	0
MCM8	84515	broad.mit.edu	37	20	5965634	5965639	+	In_Frame_Del	DEL	AGAAAG	AGAAAG	-			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr20:5965634_5965639delAGAAAG	ENST00000378896.3	+	15	2318_2323	c.1941_1946delAGAAAG	c.(1939-1947)tcagaaaga>tca	p.ER648del	MCM8_ENST00000378886.2_In_Frame_Del_p.ER688del|MCM8_ENST00000378883.1_In_Frame_Del_p.ER601del|MCM8_ENST00000265187.4_In_Frame_Del_p.ER632del	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	648					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGCCATTATCAGAAAGACTAAAGGTA	0.374													9	26	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7578555	7578556	+	Splice_Site	DEL	CT	CT	-			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr17:7578555_7578556delCT	ENST00000420246.2	-	5	508		c.e5-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(72)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGAGTACTGTAGGAAGAG	0.554		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	5	---	---	---	---	0	0
NUMA1	0	broad.mit.edu	37	11	71719830	71719830	+	Frame_Shift_Del	DEL	A	A	-	rs139169825	byFrequency	TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr11:71719830delA	ENST00000393695.3	-	20	5451	c.5120delT	c.(5119-5121)ttafs	p.L1707fs	NUMA1_ENST00000358965.6_Frame_Shift_Del_p.L1693fs|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.L571fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1707					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACGGCTCTTTAAAGCATCAGT	0.577			T	RARA	APL								15	66	---	---	---	---	0	0
NARG2	79664	broad.mit.edu	37	15	60741602	60741602	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr15:60741602delT	ENST00000261520.4	-	10	1798	c.1564delA	c.(1564-1566)attfs	p.I522fs	NARG2_ENST00000439632.1_Frame_Shift_Del_p.I385fs	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	522						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GAAGTTTCAATTTCCTGAGAA	0.313													15	98	---	---	---	---	0	0
ZNF615	284370	broad.mit.edu	37	19	52496378	52496378	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:52496378delA	ENST00000602063.1	-	6	2300	c.1951delT	c.(1951-1953)tccfs	p.S651fs	ZNF615_ENST00000391795.3_Frame_Shift_Del_p.S656fs|ZNF615_ENST00000594083.1_Frame_Shift_Del_p.S662fs|ZNF615_ENST00000376716.5_Frame_Shift_Del_p.S651fs|ZNF615_ENST00000598071.1_Frame_Shift_Del_p.S662fs			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CATGCAAAGGAAGTCTTTCCT	0.388													19	178	---	---	---	---	0	0
FOXA1	3169	broad.mit.edu	37	14	38061200	38061202	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chr14:38061200_38061202delCTG	ENST00000250448.2	-	2	848_850	c.787_789delCAG	c.(787-789)cagdel	p.Q263del	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.Q230del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	263					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGAAGCGCTTCTGGCGGCGCAAG	0.719													13	9	---	---	---	---	0	0
MAOA	4128	broad.mit.edu	37	X	43591988	43591988	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A8IK-01A-11D-A364-08	TCGA-KK-A8IK-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640ab7e7-1e44-444d-b470-196a000a9958	3a8cd4b7-4379-4fcc-b252-6c053077a0d8	g.chrX:43591988delT	ENST00000338702.3	+	9	1121	c.998delT	c.(997-999)attfs	p.I333fs	MAOA_ENST00000542639.1_Frame_Shift_Del_p.I200fs	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	333					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GATGCTCCAATTTCAATAACC	0.443													65	6	---	---	---	---	0	0
KMT2C	58508	broad.mit.edu	37	7	151845543	151845555	+	Frame_Shift_Del	DEL	TTAATGGCGCAAG	TTAATGGCGCAAG	-	rs138230031		TCGA-KK-A8IL-01A-11D-A364-08	TCGA-KK-A8IL-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	defe4c4d-743a-4352-8020-f614ba5bfe2d	ecf06be2-7f7e-4833-a200-287d4835fec1	g.chr7:151845543_151845555delTTAATGGCGCAAG	ENST00000355193.2	-	53	13846_13858	c.13628_13640delCTTGCGCCATTAA	c.(13627-13641)acttgcgccattaaafs	p.TCAIK4543fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.TCAIK4486fs					lysine (K)-specific methyltransferase 2C																		GCATTGTGCTTTAATGGCGCAAGTGAAGTGATA	0.432													30	97	---	---	---	---	0	0
ZNF347	84671	broad.mit.edu	37	19	53645401	53645401	+	Frame_Shift_Del	DEL	G	G	-			TCGA-M7-A71Y-01A-22D-A32B-08	TCGA-M7-A71Y-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d703ae-a5d1-4dd9-a97a-8122c6a58b25	38ab93fd-6d00-4329-92f0-ca4d05d80a11	g.chr19:53645401delG	ENST00000452676.2	-	5	1109	c.683delC	c.(682-684)cctfs	p.P228fs	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.P227fs|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.P228fs	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GACATTATAAGGCATTTGTTG	0.343													12	181	---	---	---	---	0	0
TRIP10	9322	broad.mit.edu	37	19	6743220	6743221	+	Frame_Shift_Ins	INS	-	-	G	rs147776897		TCGA-M7-A720-01A-12D-A32B-08	TCGA-M7-A720-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cba5884-4340-40e8-a83c-7377f5436f29	cd75bca3-514a-46d7-9c45-64d7da925e78	g.chr19:6743220_6743221insG	ENST00000600428.1	+	5	683_684	c.37_38insG	c.(37-39)cggfs	p.R13fs	TRIP10_ENST00000313285.8_Frame_Shift_Ins_p.R121fs|TRIP10_ENST00000313244.9_Frame_Shift_Ins_p.R121fs|TRIP10_ENST00000596758.1_Frame_Shift_Ins_p.R121fs			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	121	FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	p.R121L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCAAGAAGGGCGGCGGGCCCAG	0.559													7	82	---	---	---	---	0	0
ASPA	443	broad.mit.edu	37	17	3386885	3386885	+	Splice_Site	DEL	G	G	-			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:3386885delG	ENST00000263080.2	+	3	683	c.525delG	c.(523-525)gtg>gt	p.V175fs	ASPA_ENST00000456349.2_Splice_Site_p.V175fs|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	175					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AGTATCCTGTGGGTAAGTCAT	0.383													12	113	---	---	---	---	0	0
TAF1L	138474	broad.mit.edu	37	9	32634331	32634333	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-M7-A725-01A-12D-A32B-08	TCGA-M7-A725-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc15245-4b29-4381-929e-2e40cf170982	9b19febe-309d-4958-8102-f0fc7490dabb	g.chr9:32634331_32634333delAGA	ENST00000242310.4	-	1	1334_1336	c.1245_1247delTCT	c.(1243-1248)cttctg>ctg	p.415_416LL>L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	415					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCGTCAGCCAGAAGATCAGTGC	0.433													7	316	---	---	---	---	0	0
ATE1	11101	broad.mit.edu	37	10	123659394	123659395	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr10:123659394_123659395insGC	ENST00000535655.1	-	5	983_984	c.31_32insGC	c.(31-33)ccafs	p.P11fs	ATE1_ENST00000369040.3_Intron|ATE1_ENST00000224652.6_Frame_Shift_Ins_p.P310fs|ATE1_ENST00000543447.1_Frame_Shift_Ins_p.P195fs|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000369043.3_Intron			O95260	ATE1_HUMAN	arginyltransferase 1	310				AGGSPSV -> GGGFAAS (in Ref. 4; AAD12366).	protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GCTTTCGGTTGGCGTATCAGGT	0.431													15	71	---	---	---	---	0	0
ARMC5	79798	broad.mit.edu	37	16	31473879	31473881	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr16:31473879_31473881delTAA	ENST00000457010.2	+	3	1712_1714	c.1011_1013delTAA	c.(1009-1014)cctaat>cct	p.N338del	ARMC5_ENST00000408912.3_In_Frame_Del_p.N433del|ARMC5_ENST00000563544.1_In_Frame_Del_p.N338del|ARMC5_ENST00000538189.1_In_Frame_Del_p.N370del|ARMC5_ENST00000268314.4_In_Frame_Del_p.N338del|ARMC5_ENST00000412665.2_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	338							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCGGGATCCTAATGGAGCTAGC	0.66													9	69	---	---	---	---	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44216408	44216409	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr6:44216408_44216409delTT	ENST00000371554.1	+	2	256_257	c.42_43delTT	c.(40-45)acttttfs	p.F15fs	HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F15fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F15fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	15					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGTGGAGACTTTTGCCTTTCA	0.411													11	115	---	---	---	---	0	0
SLC17A5	26503	broad.mit.edu	37	6	74351528	74351537	+	Frame_Shift_Del	DEL	CATTTTCCCC	CATTTTCCCC	-	rs80338795		TCGA-TK-A8OK-01A-22D-A364-08	TCGA-TK-A8OK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5f0491-82d8-49de-8420-fa14d8185bdc	577739c4-abfc-466f-9bce-1bbb1f35040b	g.chr6:74351528_74351537delCATTTTCCCC	ENST00000355773.5	-	3	670_679	c.402_411delGGGGAAAATG	c.(400-411)ggggggaaaatgfs	p.GGKM134fs	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.GGKM134fs	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	134					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCCTAGCAGCATTTTCCCCCCTATTTTGC	0.471													29	121	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179539084	179539086	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:179539084_179539086delTTC	ENST00000589042.1	-	151	34887_34889	c.34663_34665delGAA	c.(34663-34665)gaadel	p.E11555del	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E10254del|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_In_Frame_Del_p.E11181del|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11318	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTAGGTGGTTCTTCTGGGATT	0.34													5	2	---	---	---	---	0	0
HDAC10	83933	broad.mit.edu	37	22	50684778	50684779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr22:50684778_50684779insC	ENST00000216271.5	-	17	1950_1951	c.1598_1599insG	c.(1597-1599)ggcfs	p.G533fs	HDAC10_ENST00000448072.1_Frame_Shift_Ins_p.G483fs|HDAC10_ENST00000349505.4_Frame_Shift_Ins_p.G513fs|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	533					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGCCTCCTTGCCCCTGATGTT	0.614													19	69	---	---	---	---	0	0
TLR8	51311	broad.mit.edu	37	X	12937492	12937492	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chrX:12937492delA	ENST00000218032.6	+	2	420	c.333delA	c.(331-333)tcafs	p.S111fs	TLR8_ENST00000311912.5_Frame_Shift_Del_p.S129fs	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	111					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTATACAATCAAATGGCTTGA	0.418													22	46	---	---	---	---	0	0
ASH1L	55870	broad.mit.edu	37	1	155349888	155349889	+	Frame_Shift_Ins	INS	-	-	T			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr1:155349888_155349889insT	ENST00000368346.3	-	8	6776_6777	c.6137_6138insA	c.(6136-6138)aagfs	p.K2046fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K2041fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2046					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTCAATTCTCTTTTGTCTTAG	0.347													11	74	---	---	---	---	0	0
AC022596.6	0	broad.mit.edu	37	17	16722880	16722881	+	RNA	DEL	AG	AG	-			TCGA-V1-A8ML-01A-11D-A377-08	TCGA-V1-A8ML-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cec2fc20-36ef-4bd5-9496-d19a0ff4b6e1	291dc91d-9f58-4a35-8a15-ebbc601c6bdb	g.chr17:16722880_16722881delAG	ENST00000417510.1	-	0	932_933																											GGTCCACACCAGGTGCATCGTC	0.554													12	29	---	---	---	---	0	0
EHHADH	1962	broad.mit.edu	37	3	184922509	184922509	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr3:184922509delG	ENST00000231887.3	-	6	680	c.605delC	c.(604-606)ccafs	p.P202fs	EHHADH_ENST00000456310.1_Frame_Shift_Del_p.P106fs	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	202	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GCTCTGAATTGGCTTGTTGCA	0.468													13	79	---	---	---	---	0	0
IKBIP	121457	broad.mit.edu	37	12	99007629	99007635	+	Frame_Shift_Del	DEL	AGCTTAG	AGCTTAG	-			TCGA-V1-A8MU-01A-11D-A377-08	TCGA-V1-A8MU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	942a31bd-5417-43df-bc54-b74f9d8745ce	3f2fdbd9-19b0-41e2-87f3-ebc0f5fa5215	g.chr12:99007629_99007635delAGCTTAG	ENST00000342502.2	-	3	1192_1198	c.781_787delCTAAGCT	c.(781-789)ctaagcttafs	p.LSL261fs	IKBIP_ENST00000420861.1_Frame_Shift_Del_p.LSL155fs|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	261					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCACCTTCTAAGCTTAGAAATCTATCT	0.377													17	47	---	---	---	---	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377936	60377936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:60377936delT	ENST00000371204.3	-	3	464	c.421delA	c.(421-423)actfs	p.T141fs	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	141					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GCTGTCAGAGTGAACCTTCTT	0.418													9	124	---	---	---	---	0	0
OR2T7	81458	broad.mit.edu	37	1	248604929	248604930	+	Frame_Shift_Ins	INS	-	-	G			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:248604929_248604930insG	ENST00000460972.3	+	1	422_423	c.422_423insG	c.(421-426)ctgggafs	p.LG141fs						olfactory receptor, family 2, subfamily T, member 7																		GCAGCCTGGCTGGGAGGGTCTA	0.579													4	7	---	---	---	---	0	0
MXD4	10608	broad.mit.edu	37	4	2263671	2263671	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr4:2263671delC	ENST00000337190.2	-	1	350	c.37delG	c.(37-39)gccfs	p.A13fs	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	13	Interaction with SIN3A and SIN3B (By similarity).				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AGGTACTCGGCCGCCTCCAGC	0.801													2	4	---	---	---	---	0	0
AJAP1	55966	broad.mit.edu	37	1	4772288	4772288	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A8WS-01A-11D-A377-08	TCGA-V1-A8WS-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8340e524-5498-4243-b80f-416915f3604c	ba0467ad-64f1-43df-81e1-529e66e6e6fe	g.chr1:4772288delC	ENST00000378191.4	+	2	739	c.358delC	c.(358-360)cccfs	p.P121fs	AJAP1_ENST00000378190.3_Frame_Shift_Del_p.P121fs	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	121					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGGCCAAGCCCCCAGCTGC	0.726													2	4	---	---	---	---	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52947299	52947319	+	Splice_Site	DEL	GCCTTCAATCTATATAAAAAG	GCCTTCAATCTATATAAAAAG	-			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:52947299_52947319delGCCTTCAATCTATATAAAAAG	ENST00000371544.3	-	11	1898_1906	c.1636_1644delCTTTTTATATAGATTGAAGGC	c.(1636-1644)ctttttatadel	p.LFI546del	ZCCHC11_ENST00000257177.4_Splice_Site_p.LFI546del|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	546					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	p.E547*(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGGGTCAAAGCCTTCAATCTATATAAAAAGGCATTCCAAA	0.335													12	47	---	---	---	---	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357907	149357907	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr5:149357907delT	ENST00000286298.4	+	2	960	c.692delT	c.(691-693)gttfs	p.V231fs		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	231						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATAGCTGGAGTTTATCAGGTA	0.343													11	45	---	---	---	---	0	0
ACTR6	64431	broad.mit.edu	37	12	100617651	100617657	+	Frame_Shift_Del	DEL	AGAAAAT	AGAAAAT	-			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:100617651_100617657delAGAAAAT	ENST00000188312.2	+	11	1914_1920	c.1149_1155delAGAAAAT	c.(1147-1155)gaagaaaatfs	p.EEN383fs	ACTR6_ENST00000551617.1_Frame_Shift_Del_p.EEN281fs|ACTR6_ENST00000546902.1_Frame_Shift_Del_p.EEN301fs|ACTR6_ENST00000552376.1_Frame_Shift_Del_p.EEN363fs	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	383						cytoplasm|cytoskeleton		p.E384K(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						AAGATTACGAAGAAAATGGACATAGCG	0.329													7	46	---	---	---	---	0	0
MBD1	4152	broad.mit.edu	37	18	47806259	47806260	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr18:47806259_47806260insA	ENST00000591416.1	-	2	534_535	c.103_104insT	c.(103-105)tacfs	p.Y35fs	MBD1_ENST00000590208.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000591535.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398495.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Ins_p.Y61fs|MBD1_ENST00000436910.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398493.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Ins_p.Y35fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	35	MBD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GTACCTCTGGTAATAGGTGTCT	0.554													19	21	---	---	---	---	0	0
TMEM5	10329	broad.mit.edu	37	12	64199185	64199186	+	Splice_Site	INS	-	-	T			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr12:64199185_64199186insT	ENST00000537373.1	+	5	1082		c.e5+1		TMEM5_ENST00000261234.6_Splice_Site	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5							integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CAAGAGAACAGTAAGTTCTATG	0.347													7	82	---	---	---	---	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677872	37677873	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VN-A88I-01A-11D-A34U-08	TCGA-VN-A88I-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3	bd4e531f-404d-4daa-8842-9718b657a281	g.chr19:37677872_37677873insT	ENST00000532828.2	-	5	817_818	c.566_567insA	c.(565-567)aatfs	p.N189fs	ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.N134fs|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCACATTCATTGCACTTATA	0.376													15	165	---	---	---	---	0	0
BCOR	54880	broad.mit.edu	37	X	39932270	39932279	+	Frame_Shift_Del	DEL	GATGTAACTT	GATGTAACTT	-			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chrX:39932270_39932279delGATGTAACTT	ENST00000342274.4	-	4	2682_2691	c.2320_2329delAAGTTACATC	c.(2320-2331)aagttacatccafs	p.KLHP774fs	BCOR_ENST00000378444.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KLHP774fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	774					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGACATCTGGATGTAACTTGGTGCTGCTA	0.524			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						71	58	---	---	---	---	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590830	83590830	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr7:83590830delC	ENST00000265362.4	-	17	2487	c.2173delG	c.(2173-2175)gttfs	p.V725fs	SEMA3A_ENST00000436949.1_Frame_Shift_Del_p.V725fs	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTTTCCAAACTTGTTCACAG	0.453													7	141	---	---	---	---	0	0
PI15	51050	broad.mit.edu	37	8	75761482	75761485	+	Frame_Shift_Del	DEL	TAAA	TAAA	-			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr8:75761482_75761485delTAAA	ENST00000260113.2	+	6	950_953	c.771_774delTAAA	c.(769-774)tttaaafs	p.FK257fs	PI15_ENST00000523773.1_Frame_Shift_Del_p.FK257fs|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	257						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TGTACTGGTTTAAATAAGTTTACC	0.358													38	41	---	---	---	---	0	0
KMT2D	8085	broad.mit.edu	37	12	49440431	49440431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:49440431delG	ENST00000301067.7	-	15	4378	c.4379delC	c.(4378-4380)ccafs	p.P1460fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGTGAGCAGTGGGGGGTCCAG	0.562													48	91	---	---	---	---	0	0
CD37	0	broad.mit.edu	37	19	49842112	49842114	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr19:49842112_49842114delCAG	ENST00000535669.2	+	6	717_719	c.603_605delCAG	c.(601-606)ctcagc>ctc	p.S202del	CD37_ENST00000323906.4_In_Frame_Del_p.S202del|CD37_ENST00000426897.2_In_Frame_Del_p.S134del|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_In_Frame_Del_p.S134del			P11049	CD37_HUMAN	CD37 molecule	202						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		TGCCCCAGCTCAGCAGGCTTGGA	0.621													22	55	---	---	---	---	0	0
NUP160	23279	broad.mit.edu	37	11	47861461	47861461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:47861461delG	ENST00000378460.2	-	4	728	c.682delC	c.(682-684)ctgfs	p.L228fs	NUP160_ENST00000528071.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000530326.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000526870.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	228					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGGCAAACAGGGCCTCCCCA	0.458													32	68	---	---	---	---	0	0
PACS1	55690	broad.mit.edu	37	11	65838130	65838130	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr11:65838130delC	ENST00000320580.4	+	1	206	c.173delC	c.(172-174)tcgfs	p.S59fs		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	59	Ser-rich.				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCGTCGTCCTCGTCCACCTCG	0.766													2	4	---	---	---	---	0	0
ZFHX3	463	broad.mit.edu	37	16	72828649	72828650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VN-A88R-01A-11D-A364-08	TCGA-VN-A88R-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d624f520-0cf2-479f-a434-493117b54ed0	f3aa6d62-dfca-43e4-8c16-a07c4a3ad3e9	g.chr16:72828649_72828650insA	ENST00000268489.5	-	9	8603_8604	c.7931_7932insT	c.(7930-7932)ttgfs	p.L2644fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.L1730fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2644					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGTTGTTCTCAAACGCTTGTC	0.49													7	194	---	---	---	---	0	0
TCERG1	10915	broad.mit.edu	37	5	145849150	145849151	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr5:145849150_145849151insCC	ENST00000296702.5	+	7	1280_1281	c.1242_1243insCC	c.(1243-1245)cccfs	p.P415fs	TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.P394fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	415					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGATACATCCCCAGGTTGC	0.386													54	156	---	---	---	---	0	0
TCF20	6942	broad.mit.edu	37	22	42605693	42605694	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr22:42605693_42605694insT	ENST00000359486.3	-	1	5754_5755	c.5618_5619insA	c.(5617-5619)tatfs	p.Y1873fs	TCF20_ENST00000404876.1_Frame_Shift_Ins_p.Y174fs|TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Y1873fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTGCAGGCCATAGAGCCTGCC	0.446													8	195	---	---	---	---	0	0
KMT2E	55904	broad.mit.edu	37	7	104747889	104747890	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr7:104747889_104747890delAA	ENST00000334877.4	+	22	3519_3520	c.2985_2986delAA	c.(2983-2988)ataaagfs	p.K996fs	KMT2E_ENST00000257745.4_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000334914.7_Frame_Shift_Del_p.K51fs					lysine (K)-specific methyltransferase 2E																		TGCAAGAAATAAAGACTATTGG	0.406													14	58	---	---	---	---	0	0
ZMYND11	10771	broad.mit.edu	37	10	288038	288041	+	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr10:288038_288041delCAAT	ENST00000397962.3	+	10	1337_1340	c.909_912delCAAT	c.(907-912)gacaatfs	p.DN303fs	ZMYND11_ENST00000602682.1_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000545619.1_Frame_Shift_Del_p.DN183fs|ZMYND11_ENST00000509513.2_Frame_Shift_Del_p.DN302fs|ZMYND11_ENST00000381591.1_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000397959.3_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000381584.1_Frame_Shift_Del_p.DN286fs|ZMYND11_ENST00000381602.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000403354.1_Frame_Shift_Del_p.DN223fs|ZMYND11_ENST00000309776.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000558098.2_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000402736.1_Frame_Shift_Del_p.DN272fs|ZMYND11_ENST00000381607.4_Frame_Shift_Del_p.DN209fs|ZMYND11_ENST00000535374.1_Frame_Shift_Del_p.DN98fs|ZMYND11_ENST00000381604.4_Frame_Shift_Del_p.DN263fs			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	263					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAAAGAAGACAATCAAGTCGACG	0.426													15	73	---	---	---	---	0	0
SPOP	8405	broad.mit.edu	37	17	47699392	47699392	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VP-A878-01A-31D-A34U-08	TCGA-VP-A878-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c8781c-f2c7-4eb3-beb6-322e4c08e79b	62240b66-a483-4a6a-a55c-06b9734d523a	g.chr17:47699392delT	ENST00000393331.3	-	5	586	c.116delA	c.(115-117)aatfs	p.N40fs	SPOP_ENST00000503676.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Frame_Shift_Del_p.N40fs|SPOP_ENST00000504102.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000393328.2_Frame_Shift_Del_p.N40fs	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	40	MATH.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GCTAAAGTTATTGATGGTCCA	0.368										Prostate(2;0.17)			22	61	---	---	---	---	0	0
SLC30A9	10463	broad.mit.edu	37	4	42024869	42024869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr4:42024869delT	ENST00000264451.7	+	5	629	c.449delT	c.(448-450)cttfs	p.L150fs		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTAGAACAACTTCGAAAAATC	0.343													28	60	---	---	---	---	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62484484	62484486	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr11:62484484_62484486delTTC	ENST00000301785.5	-	11	2148_2150	c.1956_1958delGAA	c.(1954-1959)cagaac>cac	p.652_653QN>H	HNRNPUL2-BSCL2_ENST00000403734.2_In_Frame_Del_p.652_653QN>H	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	652					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCGGCTTCGGTTCTGCCGGTTAC	0.557													20	72	---	---	---	---	0	0
CCNI	10983	broad.mit.edu	37	4	77969728	77969728	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr4:77969728delA	ENST00000237654.4	-	7	1354	c.778delT	c.(778-780)tatfs	p.Y260fs	CCNI_ENST00000537948.1_Frame_Shift_Del_p.Y246fs	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	260					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CGGTAGACATAAACGGAATTC	0.527													9	54	---	---	---	---	0	0
LIFR	3977	broad.mit.edu	37	5	38482128	38482129	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr5:38482128_38482129insA	ENST00000263409.4	-	20	3024_3025	c.2862_2863insT	c.(2860-2865)attgagfs	p.E955fs	LIFR_ENST00000453190.2_Frame_Shift_Ins_p.E955fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	955					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATTTCTTCCTCAATGATGGGTG	0.46			T	PLAG1	salivary adenoma								7	162	---	---	---	---	0	0
ILF3	3609	broad.mit.edu	37	19	10781285	10781286	+	Splice_Site	INS	-	-	T	rs111709385		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:10781285_10781286insT	ENST00000449870.1	+	2	320		c.e2+1		ILF3_ENST00000407004.3_Splice_Site|ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000590261.1_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000592763.1_Splice_Site	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa						M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGTAAAAATGGTAAGTTTGTTT	0.332													9	52	---	---	---	---	0	0
SENP7	57337	broad.mit.edu	37	3	101086791	101086800	+	Frame_Shift_Del	DEL	TTTAACATCC	TTTAACATCC	-			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:101086791_101086800delTTTAACATCC	ENST00000394095.2	-	8	905_914	c.852_861delGGATGTTAAA	c.(850-861)aaggatgttaaafs	p.KDVK284fs	SENP7_ENST00000314261.7_Frame_Shift_Del_p.KDVK218fs|SENP7_ENST00000394091.1_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.KDVK219fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.KDVK251fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.KDVK120fs	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	284					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AATCAGAATATTTAACATCCTTGTTTCTGC	0.333													10	100	---	---	---	---	0	0
FAT1	2195	broad.mit.edu	37	4	187525553	187525554	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr4:187525553_187525554delTC	ENST00000441802.2	-	18	10734_10735	c.10525_10526delGA	c.(10525-10527)gatfs	p.D3509fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3509	Cadherin 32.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAAGTAATGATCTTTCTCCTTC	0.431										HNSCC(5;0.00058)			9	36	---	---	---	---	0	0
OR2V2	285659	broad.mit.edu	37	5	180582423	180582423	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr5:180582423delA	ENST00000328275.1	+	1	481	c.481delA	c.(481-483)atgfs	p.M161fs		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGATCCAGATGGTGGTAGT	0.488													39	126	---	---	---	---	0	0
LSM14A	26065	broad.mit.edu	37	19	34685513	34685514	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr19:34685513_34685514insT	ENST00000544216.3	+	2	329_330	c.252_253insT	c.(253-255)tgtfs	p.C85fs	LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.C85fs|LSM14A_ENST00000433627.5_Frame_Shift_Ins_p.C85fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	85					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CAAAACCACAGTGTTCTTTGCC	0.431													14	117	---	---	---	---	0	0
SGSH	6448	broad.mit.edu	37	17	78187632	78187632	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VP-A87K-01A-11D-A34U-08	TCGA-VP-A87K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd313ed-de0b-435e-864c-1169b729acaf	abe6e709-1d51-4e6b-92a2-7e5c49b553ab	g.chr17:78187632delT	ENST00000326317.6	-	6	802	c.716delA	c.(715-717)cagfs	p.Q239fs	SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Frame_Shift_Del_p.S251fs|SGSH_ENST00000534910.1_Frame_Shift_Del_p.Q36fs	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	239					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTGGTGTACTGAGCGGCCAG	0.706													2	4	---	---	---	---	0	0
BCLAF1	9774	broad.mit.edu	37	6	136594312	136594313	+	Frame_Shift_Ins	INS	-	-	TTGAAGTATTGCTCTG			TCGA-WW-A8ZI-01A-11D-A377-08	TCGA-WW-A8ZI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f032fb5f-6499-4cd4-82c5-fec6bdb5caad	e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6	g.chr6:136594312_136594313insTTGAAGTATTGCTCTG	ENST00000531224.1	-	7	2117_2118	c.1865_1866insCAGAGCAATACTTCAA	c.(1864-1866)aagfs	p.K622fs	BCLAF1_ENST00000527759.1_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.K449fs|BCLAF1_ENST00000353331.4_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.K622fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	622					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGCAGCTGACTTGAAGTATTG	0.401													11	259	---	---	---	---	0	0
LYST	1130	broad.mit.edu	37	1	235933474	235933482	+	In_Frame_Del	DEL	AAGTCAGTA	AAGTCAGTA	-			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chr1:235933474_235933482delAAGTCAGTA	ENST00000389794.3	-	20	6074_6082	c.5900_5908delTACTGACTT	c.(5899-5910)ctactgacttgt>cgt	p.1967_1970LLTC>R	LYST_ENST00000389793.2_In_Frame_Del_p.1967_1970LLTC>R|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1967					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.L1968L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAACCTGACAAGTCAGTAGAAAGTGATG	0.354													7	108	---	---	---	---	0	0
KDM6A	7403	broad.mit.edu	37	X	44918544	44918545	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XA-A8JR-01A-11D-A364-08	TCGA-XA-A8JR-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6df7e9e-c584-4526-afb2-fa4b5199b174	814a1d39-a0af-491b-bb21-8afa1dd84729	g.chrX:44918544_44918545insG	ENST00000377967.4	+	12	1068_1069	c.1027_1028insG	c.(1027-1029)tgtfs	p.C343fs	KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.C343fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	343					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGCCTATATTTGTGCTGTACAA	0.436			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								8	16	---	---	---	---	0	0
PKHD1	5314	broad.mit.edu	37	6	51882246	51882251	+	In_Frame_Del	DEL	TGCCCA	TGCCCA	-			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr6:51882246_51882251delTGCCCA	ENST00000371117.3	-	34	5832_5837	c.5557_5562delTGGGCA	c.(5557-5562)tgggcadel	p.WA1853del	PKHD1_ENST00000340994.4_In_Frame_Del_p.WA1853del	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1853					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.W1853L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACATTGACTCTGCCCAATGATCTGGC	0.49													15	70	---	---	---	---	0	0
EXT1	2131	broad.mit.edu	37	8	118831983	118831983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr8:118831983delG	ENST00000378204.2	-	6	2274	c.1468delC	c.(1468-1470)ctgfs	p.L490fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	490					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGAGAGACCAGGGGGGTCACC	0.547			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				13	84	---	---	---	---	0	0
ITPR2	3709	broad.mit.edu	37	12	26714879	26714879	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr12:26714879delT	ENST00000381340.3	-	35	5053	c.4637delA	c.(4636-4638)aatfs	p.N1546fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1546					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AATTCCACGATTTTTTGCTGA	0.318													7	26	---	---	---	---	0	0
RPL5	6125	broad.mit.edu	37	1	93301888	93301890	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:93301888_93301890delGGC	ENST00000370321.3	+	5	556_558	c.466_468delGGC	c.(466-468)ggcdel	p.G156del		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	156					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AACTACCACTGGCAATAAAGTTT	0.493													14	114	---	---	---	---	0	0
CHD1	1105	broad.mit.edu	37	5	98234109	98234112	+	Frame_Shift_Del	DEL	AACC	AACC	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:98234109_98234112delAACC	ENST00000284049.3	-	9	1362_1365	c.1213_1216delGGTT	c.(1213-1218)ggttatfs	p.GY405fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	405	Chromo 2.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.G405V(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TAATCAGGATAACCAGCTGCTGAC	0.363													7	25	---	---	---	---	0	0
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								32	98	---	---	---	---	0	0
TUBA4B	0	broad.mit.edu	37	2	220136477	220136480	+	RNA	DEL	TGTG	TGTG	-			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:220136477_220136480delTGTG	ENST00000490341.1	+	0	947_950					NR_003063.1																						ACCATGGAGATGTGGTGCCCAAGG	0.529													9	47	---	---	---	---	0	0
KRT85	3891	broad.mit.edu	37	12	52757020	52757031	+	Splice_Site	DEL	TGCCACTCACCT	TGCCACTCACCT	-			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:52757020_52757031delTGCCACTCACCT	ENST00000257901.3	-	5	1025_1027	c.950_952delAGGTGAGTGGCA	c.(949-954)aaggtg>atg	p.317_318KV>M	KRT85_ENST00000544265.1_Splice_Site_p.105_106KV>M	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	317	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTGTCCTGTGCCACTCACCTTGCTACGGTA	0.547													8	21	---	---	---	---	0	0
PDCD11	22984	broad.mit.edu	37	10	105201643	105201643	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:105201643delA	ENST00000369797.3	+	31	4712	c.4618delA	c.(4618-4620)aatfs	p.N1540fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1540					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTCGCTTGGAATGTGGGACT	0.577													10	25	---	---	---	---	0	0
PRPF40B	25766	broad.mit.edu	37	12	50036730	50036730	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr12:50036730delC	ENST00000261897.1	+	21	2585	c.2034delC	c.(2032-2034)ctcfs	p.L678fs	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.L712fs|PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.L691fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	691					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCCAGCACCTCCACACCAAAG	0.542													2	4	---	---	---	---	0	0
MICAL3	57553	broad.mit.edu	37	22	18389469	18389477	+	In_Frame_Del	DEL	TCACAGAGC	TCACAGAGC	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr22:18389469_18389477delTCACAGAGC	ENST00000441493.2	-	2	454_462	c.102_110delGCTCTGTGA	c.(100-111)gagctctgtgac>gac	p.ELC34del	MICAL3_ENST00000585038.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000400561.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000444520.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000207726.7_In_Frame_Del_p.ELC34del|MICAL3_ENST00000383094.3_In_Frame_Del_p.ELC34del|MICAL3_ENST00000414725.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000429452.1_In_Frame_Del_p.ELC34del	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	34						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTCCAGGTGGTCACAGAGCTCCTGGAAAG	0.526													13	148	---	---	---	---	0	0
TPP1	1200	broad.mit.edu	37	11	6636110	6636111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr11:6636110_6636111insC	ENST00000533371.1	-	11	1606_1607	c.808_809insG	c.(808-810)gcafs	p.A270fs	TPP1_ENST00000299427.6_Frame_Shift_Ins_p.A513fs			O14773	TPP1_HUMAN	tripeptidyl peptidase I	513					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AAAGAGTCCTGCCCCATGCTGC	0.54													120	314	---	---	---	---	0	0
RLIM	51132	broad.mit.edu	37	X	73811565	73811565	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chrX:73811565delG	ENST00000332687.6	-	4	1803	c.1585delC	c.(1585-1587)cttfs	p.L529fs	RLIM_ENST00000349225.2_Frame_Shift_Del_p.L529fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	529					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCAGGCTAAGGAAGGGCAAA	0.478													19	1	---	---	---	---	0	0
SEMA3F	6405	broad.mit.edu	37	3	50225399	50225399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:50225399delC	ENST00000002829.3	+	19	2693	c.2209delC	c.(2209-2211)ccafs	p.P737fs	SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P638fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P706fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	737					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCTGGCCCAGCCAGAAGTGGG	0.697													2	4	---	---	---	---	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466440	57466440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr11:57466440delA	ENST00000287169.3	+	11	2894	c.1532delA	c.(1531-1533)gaafs	p.E511fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.E458fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	511						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CAGCAACGGGAAGCTGAGAGG	0.602													14	31	---	---	---	---	0	0
F8	2157	broad.mit.edu	37	X	154158843	154158844	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:154158843_154158844insT	ENST00000360256.4	-	14	3421_3422	c.3221_3222insA	c.(3220-3222)aatfs	p.N1074fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1074	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGCTGTAGCATTTTTGTCCAT	0.356													42	27	---	---	---	---	0	0
LACE1	246269	broad.mit.edu	37	6	108768474	108768474	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr6:108768474delC	ENST00000368977.4	+	8	1051	c.865delC	c.(865-867)cctfs	p.P289fs		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	289							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AAGGGAACTTCCTGCTGCAGG	0.328													7	92	---	---	---	---	0	0
NEURL4	84461	broad.mit.edu	37	17	7227518	7227519	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr17:7227518_7227519delCT	ENST00000399464.2	-	11	1985_1986	c.1970_1971delAG	c.(1969-1971)cagfs	p.Q657fs	NEURL4_ENST00000570460.1_Frame_Shift_Del_p.Q635fs|NEURL4_ENST00000315614.7_Frame_Shift_Del_p.Q657fs	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCAGGGCCCTGAGTCATCCC	0.653											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	57	---	---	---	---	0	0
CDC20	991	broad.mit.edu	37	1	43825955	43825955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:43825955delC	ENST00000372462.1	+	5	851	c.648delC	c.(646-648)atcfs	p.I216fs	CDC20_ENST00000310955.6_Frame_Shift_Del_p.I216fs|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	216					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGTGACATCCTGCAGCTTT	0.537													26	46	---	---	---	---	0	0
NSL1	25936	broad.mit.edu	37	1	212964929	212964930	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:212964929_212964930insTT	ENST00000366977.3	-	1	194_195	c.176_177insAA	c.(175-177)aagfs	p.K59fs	NSL1_ENST00000366975.6_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000422588.2_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.K59fs	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	59					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		CGTCCCCGAGCTTTTGCACGAA	0.609													32	165	---	---	---	---	0	0
FBXO38	81545	broad.mit.edu	37	5	147803625	147803626	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr5:147803625_147803626insA	ENST00000340253.5	+	13	1851_1852	c.1683_1684insA	c.(1684-1686)actfs	p.T562fs	FBXO38_ENST00000394370.3_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000513826.1_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000296701.6_Frame_Shift_Ins_p.T562fs			Q6PIJ6	FBX38_HUMAN	F-box protein 38	562						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAATAATACTCCAGCTCA	0.426													36	44	---	---	---	---	0	0
RBP1	5947	broad.mit.edu	37	3	139258317	139258318	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr3:139258317_139258318delAC	ENST00000483943.2	-	1	243_244	c.243_244delGT	c.(241-246)gagtacfs	p.Y82fs	RBP1_ENST00000232219.2_Frame_Shift_Del_p.Y82fs|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Frame_Shift_Del_p.Y82fs	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	20						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	GCGCGCAGGTACTCCTCGAAAT	0.673													11	2	---	---	---	---	0	0
ANK3	288	broad.mit.edu	37	10	62038573	62038574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:62038573_62038574insT	ENST00000280772.2	-	4	563_564	c.372_373insA	c.(370-375)aaagtcfs	p.V125fs	ANK3_ENST00000503366.1_Frame_Shift_Ins_p.V108fs|ANK3_ENST00000373827.2_Frame_Shift_Ins_p.V119fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTAACCAAGACTTTTACCACCT	0.396													86	79	---	---	---	---	0	0
TRAV26-2	0	broad.mit.edu	37	14	22670555	22670567	+	RNA	DEL	TAATGACAAAAGA	TAATGACAAAAGA	-			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr14:22670555_22670567delTAATGACAAAAGA	ENST00000390460.1	+	0	40																											GTTTTGTGGCTAATGACAAAAGAGAGTTATCTG	0.404													8	5	---	---	---	---	0	0
SCN2A	6326	broad.mit.edu	37	2	166165198	166165198	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:166165198delA	ENST00000375437.2	+	5	789	c.499delA	c.(499-501)actfs	p.T167fs	SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.T167fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	167					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGGAATTTATACTTTTGAATC	0.313													24	51	---	---	---	---	0	0
PUS7L	83448	broad.mit.edu	37	12	44148985	44148996	+	In_Frame_Del	DEL	CAACGTGATCAT	CAACGTGATCAT	-	rs145711853	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr12:44148985_44148996delCAACGTGATCAT	ENST00000416848.2	-	2	541_552	c.53_64delATGATCACGTTG	c.(52-66)aatgatcacgttgga>aga	p.18_22NDHVG>R	PUS7L_ENST00000553166.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000551923.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000344862.5_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	18					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CCATGAAATCCAACGTGATCATTAAAGAAACA	0.33													10	17	---	---	---	---	0	0
KMT2D	8085	broad.mit.edu	37	12	49434822	49434822	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:49434822delA	ENST00000301067.7	-	31	6730	c.6731delT	c.(6730-6732)ttcfs	p.F2244fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGTTTGAGGAATGGGTCAGG	0.662													11	41	---	---	---	---	0	0
SLC1A6	6511	broad.mit.edu	37	19	15083615	15083616	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:15083615_15083616delGC	ENST00000598504.1	-	4	1466_1467	c.107_108delGC	c.(106-108)cgcfs	p.R36fs	SLC1A6_ENST00000221742.3_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000600144.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000544886.2_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000430939.2_Frame_Shift_Del_p.H41fs	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	36					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCAGGCGCGTGCGCAGTGCTCT	0.678													9	22	---	---	---	---	0	0
ERF	2077	broad.mit.edu	37	19	42754713	42754713	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:42754713delA	ENST00000222329.4	-	2	184	c.27delT	c.(25-27)tttfs	p.F9fs	ERF_ENST00000440177.2_5'UTR|ERF_ENST00000595941.1_5'UTR|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	9					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CCGGGAAGGCAAACCCTGGGG	0.637													10	13	---	---	---	---	0	0
SDCBP2	27111	broad.mit.edu	37	20	1293985	1293985	+	Splice_Site	DEL	T	T	-			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr20:1293985delT	ENST00000360779.3	-	5	556	c.383delA	c.(382-384)cag>cg	p.Q128fs	SDCBP2_ENST00000381812.1_Splice_Site_p.Q128fs|SDCBP2_ENST00000339987.3_Splice_Site_p.Q128fs|SDCBP2_ENST00000381808.3_Splice_Site_p.Q43fs	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	128	PDZ 1.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GCGCCCTACCTGGTCGACCTT	0.697													2	4	---	---	---	---	0	0
ASXL2	55252	broad.mit.edu	37	2	25972970	25972979	+	Frame_Shift_Del	DEL	ATCCTTTGGG	ATCCTTTGGG	-			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:25972970_25972979delATCCTTTGGG	ENST00000435504.4	-	12	1739_1748	c.1446_1455delCCCAAAGGAT	c.(1444-1455)tgcccaaaggatfs	p.CPKD482fs	ASXL2_ENST00000336112.4_Frame_Shift_Del_p.CPKD454fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.CPKD222fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.CPKD222fs			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGATCCTCATCCTTTGGGCACTTGATGG	0.481													29	110	---	---	---	---	0	0
GBA3	57733	broad.mit.edu	37	4	22737844	22737845	+	RNA	INS	-	-	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr4:22737844_22737845insA	ENST00000511446.2	+	0	290				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGTGTTTCTTAAAAATAGAAG	0.396													7	78	---	---	---	---	0	0
ATM	472	broad.mit.edu	37	11	108180935	108180935	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr11:108180935delT	ENST00000278616.4	+	39	6196	c.5811delT	c.(5809-5811)aatfs	p.N1937fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.N1937fs|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1937					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGGATTTAAATTATCTAGAAG	0.328			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			12	34	---	---	---	---	0	0
TP53	7157	broad.mit.edu	37	17	7578435	7578436	+	Frame_Shift_Ins	INS	-	-	AGCA			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:7578435_7578436insAGCA	ENST00000420246.2	-	5	626_627	c.494_495insTGCT	c.(493-495)cagfs	p.Q165fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q165fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	165	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q165L(3)|p.Q165R(2)|p.S166fs*15(2)|p.Q165P(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q165fs*4(1)|p.Q165del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q165H(1)|p.Q165fs*16(1)|p.Q165_S166insXXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTGCTGTGACTGCTTGTAGAT	0.629		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	46	---	---	---	---	0	0
RANBP2	5903	broad.mit.edu	37	2	109382805	109382805	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:109382805delT	ENST00000283195.6	+	20	5936	c.5810delT	c.(5809-5811)attfs	p.I1937fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1937					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGTGGTGTGATTTTTGGCCAA	0.413													7	539	---	---	---	---	0	0
PROC	5624	broad.mit.edu	37	2	128186333	128186333	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:128186333delG	ENST00000453608.2	+	8	1370	c.1362delG	c.(1360-1362)gagfs	p.E454fs	PROC_ENST00000422777.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000234071.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000409048.1_Frame_Shift_Del_p.E433fs			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	399					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATGCCTGCGAGGGCGACAGTG	0.652													18	99	---	---	---	---	0	0
CASR	846	broad.mit.edu	37	3	122002787	122002792	+	In_Frame_Del	DEL	CTCCAG	CTCCAG	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:122002787_122002792delCTCCAG	ENST00000498619.1	+	7	2454_2459	c.2016_2021delCTCCAG	c.(2014-2022)ttctccagc>ttc	p.SS673del	CASR_ENST00000296154.5_In_Frame_Del_p.SS663del|CASR_ENST00000490131.1_In_Frame_Del_p.SS663del	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	663					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGCTGCTTCTCCAGCTCCCTGTTC	0.592													19	58	---	---	---	---	0	0
IFNA16	3449	broad.mit.edu	37	9	21217216	21217216	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr9:21217216delT	ENST00000380216.1	-	1	94	c.89delA	c.(88-90)cacfs	p.H30fs		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	30					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ACCCAGGCTGTGAGTCTGAGG	0.507													42	100	---	---	---	---	0	0
IDE	3416	broad.mit.edu	37	10	94269859	94269859	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr10:94269859delT	ENST00000265986.6	-	6	901	c.845delA	c.(844-846)aatfs	p.N282fs		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	282					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAATGGAACATTTTTGTTCTC	0.318													13	62	---	---	---	---	0	0
CTD-3187F8.14	0	broad.mit.edu	37	19	51671586	51671587	+	RNA	DEL	GT	GT	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:51671586_51671587delGT	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							CCCGGAGCTGGTGTGACCACGG	0.629													7	19	---	---	---	---	0	0
ANK3	288	broad.mit.edu	37	10	61834099	61834099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr10:61834099delA	ENST00000280772.2	-	37	6731	c.6540delT	c.(6538-6540)gctfs	p.A2180fs	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAACATCCCCAGCTGAGGGAT	0.463													10	134	---	---	---	---	0	0
KMT2A	4297	broad.mit.edu	37	11	118374348	118374348	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr11:118374348delA	ENST00000534358.1	+	27	7764	c.7741delA	c.(7741-7743)accfs	p.T2581fs	KMT2A_ENST00000389506.5_Frame_Shift_Del_p.T2578fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T2540fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCCCAATAATACCTCATGCCA	0.478													11	35	---	---	---	---	0	0
BCORL1	63035	broad.mit.edu	37	X	129148368	129148369	+	Frame_Shift_Ins	INS	-	-	C			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrX:129148368_129148369insC	ENST00000540052.1	+	3	1664_1665	c.1620_1621insC	c.(1621-1623)cccfs	p.P541fs	BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.P541fs	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	541	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCCAGCCTGCACCCGATGGGGT	0.624													7	105	---	---	---	---	0	0
TTN	7273	broad.mit.edu	37	2	179425080	179425081	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:179425080_179425081insT	ENST00000589042.1	-	326	86002_86003	c.85778_85779insA	c.(85777-85779)aatfs	p.N28593fs	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.N26025fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.N19720fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.N19528fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.N26952fs|TTN_ENST00000359218.5_Frame_Shift_Ins_p.N19653fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26952	Fibronectin type-III 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTAGGCTATTTTTCTCTCG	0.386													24	24	---	---	---	---	0	0
UTP3	57050	broad.mit.edu	37	4	71555199	71555210	+	In_Frame_Del	DEL	TACAACCTCTAC	TACAACCTCTAC	-			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:71555199_71555210delTACAACCTCTAC	ENST00000254803.2	+	1	1004_1015	c.805_816delTACAACCTCTAC	c.(805-816)tacaacctctacdel	p.YNLY269del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	269					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GAGGACCAAGTACAACCTCTACTTGAATTATT	0.443													25	156	---	---	---	---	0	0
SLC22A3	6581	broad.mit.edu	37	6	160857879	160857879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr6:160857879delG	ENST00000392145.1	+	6	1070	c.1043delG	c.(1042-1044)aggfs	p.R348fs	SLC22A3_ENST00000275300.2_Frame_Shift_Del_p.R348fs			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	348						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CCCCAAATGAGGAAATGCACA	0.353													13	63	---	---	---	---	0	0
LRFN4	78999	broad.mit.edu	37	11	66625250	66625251	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr11:66625250_66625251delGT	ENST00000309602.4	+	1	278_279	c.35_36delGT	c.(34-36)agtfs	p.S12fs	LRFN4_ENST00000393952.3_Frame_Shift_Del_p.S12fs|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	12						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CTGCTGGCCAGTGGAGCGGCCG	0.713													12	20	---	---	---	---	0	0
ZNF7	7553	broad.mit.edu	37	8	146068408	146068409	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr8:146068408_146068409insT	ENST00000528372.1	+	5	2156_2157	c.1916_1917insT	c.(1915-1920)tgtgagfs	p.E640fs	ZNF7_ENST00000325241.6_Frame_Shift_Ins_p.E640fs|ZNF7_ENST00000446747.2_Frame_Shift_Ins_p.E651fs|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Frame_Shift_Ins_p.E544fs			P17097	ZNF7_HUMAN	zinc finger protein 7	640					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TGTGAAGACTGTGAGAAGATAT	0.426													12	112	---	---	---	---	0	0
APC	324	broad.mit.edu	37	5	112175225	112175231	+	Frame_Shift_Del	DEL	GGAACTA	GGAACTA	-			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr5:112175225_112175231delGGAACTA	ENST00000457016.1	+	16	4314_4320	c.3934_3940delGGAACTA	c.(3934-3942)ggaactaggfs	p.GTR1312fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.GTR1312fs|APC_ENST00000508376.2_Frame_Shift_Del_p.GTR1312fs			P25054	APC_HUMAN	adenomatous polyposis coli	1312	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		G -> E (in gastric cancer).		canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.G1312*(25)|p.G1312fs*9(2)|p.G1312E(1)|p.T1313fs*8(1)|p.?(1)|p.T1313A(1)|p.K1192fs*3(1)|p.G1312R(1)|p.G1312fs*4(1)|p.T1313fs*2(1)|p.G1312fs*1(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAAAGATTGGAACTAGGTCAGCTGA	0.43		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			14	9	---	---	---	---	0	0
SMC5	23137	broad.mit.edu	37	9	72933829	72933830	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:72933829_72933830delAA	ENST00000361138.5	+	15	2158_2159	c.2100_2101delAA	c.(2098-2103)agaaaafs	p.K701fs		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	701					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTCTTGAGAGAAAAACCAAGAA	0.401													26	35	---	---	---	---	0	0
EXOC4	60412	broad.mit.edu	37	7	132937913	132937914	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr7:132937913_132937914insC	ENST00000253861.4	+	1	85_86	c.56_57insC	c.(55-60)gaccccfs	p.DP19fs	EXOC4_ENST00000393161.2_Frame_Shift_Ins_p.DP19fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	19					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAAAGCAAAGACCCCTCGGGGC	0.624													15	64	---	---	---	---	0	0
CASZ1	54897	broad.mit.edu	37	1	10725511	10725511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr1:10725511delT	ENST00000377022.3	-	5	451	c.134delA	c.(133-135)gagfs	p.E45fs	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.E45fs	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGCTCGCTTCTCCACCACCAC	0.721													13	37	---	---	---	---	0	0
IFT172	26160	broad.mit.edu	37	2	27680743	27680756	+	Frame_Shift_Del	DEL	CTGGATGGTGCTTC	CTGGATGGTGCTTC	-	rs61747068	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:27680743_27680756delCTGGATGGTGCTTC	ENST00000260570.3	-	28	3166_3179	c.3063_3076delGAAGCACCATCCAG	c.(3061-3078)gggaagcaccatccagatfs	p.KHHPD1022fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1022					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTGAGGAGATCTGGATGGTGCTTCCCTACCAGGC	0.514													9	56	---	---	---	---	0	0
PCF11	51585	broad.mit.edu	37	11	82877752	82877752	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:82877752delA	ENST00000298281.4	+	5	2265	c.1813delA	c.(1813-1815)aaafs	p.K605fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	605					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGAAGAAAATAAAAGGTATGA	0.323													21	49	---	---	---	---	0	0
DLG2	1740	broad.mit.edu	37	11	83676415	83676427	+	Frame_Shift_Del	DEL	TGGGTTTGCCAAC	TGGGTTTGCCAAC	-	rs144952538		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:83676415_83676427delTGGGTTTGCCAAC	ENST00000398309.2	-	8	1296_1308	c.826_838delGTTGGCAAACCCA	c.(826-840)gttggcaaacccactfs	p.VGKPT276fs	DLG2_ENST00000524982.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000280241.8_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000376104.2_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000543673.1_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000418306.2_Frame_Shift_Del_p.VGKPT225fs|DLG2_ENST00000398301.2_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000537455.1_Frame_Shift_Del_p.VGKPT30fs|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000532653.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000531015.1_Frame_Shift_Del_p.VGKPT243fs|DLG2_ENST00000330014.6_Frame_Shift_Del_p.VGKPT215fs	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	276	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TAAATGGTAGTGGGTTTGCCAACTTTTAAATAA	0.371													12	82	---	---	---	---	0	0
KDM6B	23135	broad.mit.edu	37	17	7753140	7753146	+	Splice_Site	DEL	AATGCCA	AATGCCA	-			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:7753140_7753146delAATGCCA	ENST00000254846.5	+	12	3831_3837	c.3442_3448delAATGCCA	c.(3442-3450)aatgccaag>ag	p.NAK1148fs	KDM6B_ENST00000448097.2_Splice_Site_p.NAK1148fs	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1148					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTCCCGCAGGAATGCCAAGGTGAAAGG	0.565													27	88	---	---	---	---	0	0
WDR48	57599	broad.mit.edu	37	3	39104561	39104561	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:39104561delT	ENST00000302313.5	+	2	97	c.69delT	c.(67-69)gatfs	p.D23fs	WDR48_ENST00000544962.1_Intron|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	23					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTATTCGAGATGAAGTGGAGA	0.388													15	73	---	---	---	---	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								7	143	---	---	---	---	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								20	53	---	---	---	---	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	93	---	---	---	---	0	0